From 9bdc11442ed7d96b5ec8366c6ecfadc1ec3ba999 Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:24:53 +0100 Subject: [PATCH 001/120] [Package]: migrate DirectionOfEffectTooltip component to TypeScript (#439) --- ...fEffectTooltip.jsx => DirectionOfEffectTooltip.tsx} | 10 ++++++++-- 1 file changed, 8 insertions(+), 2 deletions(-) rename packages/ui/src/components/{DirectionOfEffectTooltip.jsx => DirectionOfEffectTooltip.tsx} (52%) diff --git a/packages/ui/src/components/DirectionOfEffectTooltip.jsx b/packages/ui/src/components/DirectionOfEffectTooltip.tsx similarity index 52% rename from packages/ui/src/components/DirectionOfEffectTooltip.jsx rename to packages/ui/src/components/DirectionOfEffectTooltip.tsx index afd3dbf0d..ffa73abc3 100644 --- a/packages/ui/src/components/DirectionOfEffectTooltip.jsx +++ b/packages/ui/src/components/DirectionOfEffectTooltip.tsx @@ -1,15 +1,21 @@ import OTTooltip from "./Tooltip"; import Link from "./Link"; +import { ReactElement } from "react"; -function DirectionOfEffectTooltip({ docsUrl }) { +type DirectionOfEffectTooltipProps = { + docsUrl: string; +}; + +function DirectionOfEffectTooltip({ docsUrl }: DirectionOfEffectTooltipProps): ReactElement { return ( + More info on our assessment method } + style={{}} > Direction of Effect From 583d1e4dee407f1e4cca13732e9586e51ae9dbb7 Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:25:40 +0100 Subject: [PATCH 002/120] [Package]: migrate Header component to TypeScript (#460) --- .../src/components/{Header.jsx => Header.tsx} | 26 ++++++++++++++++--- 1 file changed, 22 insertions(+), 4 deletions(-) rename packages/ui/src/components/{Header.jsx => Header.tsx} (75%) diff --git a/packages/ui/src/components/Header.jsx b/packages/ui/src/components/Header.tsx similarity index 75% rename from packages/ui/src/components/Header.jsx rename to packages/ui/src/components/Header.tsx index 54919ac43..a245b2e5b 100644 --- a/packages/ui/src/components/Header.jsx +++ b/packages/ui/src/components/Header.tsx @@ -1,9 +1,11 @@ -import { Grid, Skeleton, Typography } from "@mui/material"; +import { Grid, Skeleton, Theme, Typography } from "@mui/material"; import { makeStyles } from "@mui/styles"; import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { ReactElement, ReactNode } from "react"; +import { IconProp } from "@fortawesome/fontawesome-svg-core"; -const useStyles = makeStyles(theme => ({ +const useStyles = makeStyles((theme: Theme) => ({ externalLinks: { "& > :not(:first-child):before": { content: '" | "', @@ -35,7 +37,23 @@ const useStyles = makeStyles(theme => ({ }, })); -function Header({ loading, Icon, title, subtitle = null, externalLinks, rightContent = null }) { +type HeaderProps = { + externalLinks?: ReactNode; + Icon: IconProp; + loading: boolean; + rightContent?: ReactNode; + subtitle?: string | null; + title: string; +}; + +function Header({ + loading, + Icon, + title, + subtitle = null, + externalLinks, + rightContent = null, +}: HeaderProps): ReactElement { const classes = useStyles(); return ( @@ -48,7 +66,7 @@ function Header({ loading, Icon, title, subtitle = null, externalLinks, rightCon - {loading ? : title} + {loading ? : title} {loading ? : subtitle} From dad6c961c6700e31fec6d79c54cc3f7e718ae5b5 Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:26:21 +0100 Subject: [PATCH 003/120] [Package]: migrate Highlights component to TypeScript (#461) --- .../components/{Highlights.jsx => Highlights.tsx} | 14 ++++++++++---- 1 file changed, 10 insertions(+), 4 deletions(-) rename packages/ui/src/components/{Highlights.jsx => Highlights.tsx} (77%) diff --git a/packages/ui/src/components/Highlights.jsx b/packages/ui/src/components/Highlights.tsx similarity index 77% rename from packages/ui/src/components/Highlights.jsx rename to packages/ui/src/components/Highlights.tsx index 32608c5fc..539314315 100644 --- a/packages/ui/src/components/Highlights.jsx +++ b/packages/ui/src/components/Highlights.tsx @@ -1,8 +1,8 @@ -import { useState } from "react"; -import { Typography } from "@mui/material"; +import { ReactNode, useState } from "react"; +import { Theme, Typography } from "@mui/material"; import { makeStyles } from "@mui/styles"; -const useStyles = makeStyles(theme => ({ +const useStyles = makeStyles((theme: Theme) => ({ showMore: { cursor: "pointer", color: theme.palette.primary.main, @@ -12,7 +12,13 @@ const useStyles = makeStyles(theme => ({ }, })); -function Highlights({ highlights }) { +type HighlightItem = string | TrustedHTML; + +type HighlightsProps = { + highlights: HighlightItem[]; +}; + +function Highlights({ highlights }: HighlightsProps): ReactNode { const classes = useStyles(); const [showMore, setShowMore] = useState(false); From 70c5d14329c2d76ebe2e69b915164b5317b8cee4 Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:26:50 +0100 Subject: [PATCH 004/120] [Package]: migrate BasePage component to TypeScript (#467) --- .../ui/src/components/{BasePage.jsx => BasePage.tsx} | 12 +++++++++++- 1 file changed, 11 insertions(+), 1 deletion(-) rename packages/ui/src/components/{BasePage.jsx => BasePage.tsx} (74%) diff --git a/packages/ui/src/components/BasePage.jsx b/packages/ui/src/components/BasePage.tsx similarity index 74% rename from packages/ui/src/components/BasePage.jsx rename to packages/ui/src/components/BasePage.tsx index 5d40ba136..de0ae3857 100644 --- a/packages/ui/src/components/BasePage.jsx +++ b/packages/ui/src/components/BasePage.tsx @@ -12,7 +12,17 @@ import { } from "../constants"; import GlobalSearch from "./GlobalSearch/GlobalSearch"; -function BasePage({ title, children, description, location }) { +import { ReactElement } from "react"; +import { Location } from "history"; + +type BasePageProps = { + children: ReactElement; + description?: string; + location?: Location; + title?: string; +}; + +function BasePage({ title, children, description, location }: BasePageProps): ReactElement { const composedTitle = `${title ? `${title} | ` : ""} ${appTitle}`; return ( From 515a594dcbb5069b72cd80747d64d98788efd65a Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:28:03 +0100 Subject: [PATCH 005/120] [Package]: migrate ScrollToTop component to TypeScript (#470) --- packages/ui/src/components/ScrollToTop.jsx | 21 --------------------- packages/ui/src/components/ScrollToTop.tsx | 20 ++++++++++++++++++++ 2 files changed, 20 insertions(+), 21 deletions(-) delete mode 100644 packages/ui/src/components/ScrollToTop.jsx create mode 100644 packages/ui/src/components/ScrollToTop.tsx diff --git a/packages/ui/src/components/ScrollToTop.jsx b/packages/ui/src/components/ScrollToTop.jsx deleted file mode 100644 index 08beac2b3..000000000 --- a/packages/ui/src/components/ScrollToTop.jsx +++ /dev/null @@ -1,21 +0,0 @@ -import { Component } from "react"; -import { withRouter } from "react-router-dom"; - -class ScrollToTop extends Component { - componentDidMount() { - window.scrollTo(0, 0); - } - - componentDidUpdate(prevProps) { - const { location } = this.props; - if (location.pathname !== prevProps.location.pathname) { - window.scrollTo(0, 0); - } - } - - render() { - return null; - } -} - -export default withRouter(ScrollToTop); diff --git a/packages/ui/src/components/ScrollToTop.tsx b/packages/ui/src/components/ScrollToTop.tsx new file mode 100644 index 000000000..41bf06c62 --- /dev/null +++ b/packages/ui/src/components/ScrollToTop.tsx @@ -0,0 +1,20 @@ +import { Component } from "react"; +import { RouteComponentProps, withRouter } from "react-router-dom"; + +class ScrollToTop extends Component { + componentDidMount() { + window.scrollTo(0, 0); + } + + componentDidUpdate(prevProps: RouteComponentProps) { + if (this.props.location.pathname !== prevProps.location.pathname) { + window.scrollTo(0, 0); + } + } + + render() { + return null; + } +} + +export default withRouter(ScrollToTop); From e6d029f043b1d7b366df4f3aa6d3e080e78d05ed Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:29:05 +0100 Subject: [PATCH 006/120] [Package]: migrate HeaderMenu component to TypeScript (#476) --- .../{HeaderMenu.jsx => HeaderMenu.tsx} | 41 +++++++++++++------ 1 file changed, 28 insertions(+), 13 deletions(-) rename packages/ui/src/components/{HeaderMenu.jsx => HeaderMenu.tsx} (73%) diff --git a/packages/ui/src/components/HeaderMenu.jsx b/packages/ui/src/components/HeaderMenu.tsx similarity index 73% rename from packages/ui/src/components/HeaderMenu.jsx rename to packages/ui/src/components/HeaderMenu.tsx index 099969b76..99d79086a 100644 --- a/packages/ui/src/components/HeaderMenu.jsx +++ b/packages/ui/src/components/HeaderMenu.tsx @@ -1,4 +1,4 @@ -import { useState } from "react"; +import { ReactElement, useState, MouseEvent, KeyboardEvent } from "react"; import { v1 } from "uuid"; import { MenuItem, @@ -8,6 +8,7 @@ import { Fade, Paper, ClickAwayListener, + PopperPlacementType, } from "@mui/material"; import { faXmark, faBars } from "@fortawesome/free-solid-svg-icons"; import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; @@ -15,7 +16,7 @@ import { makeStyles } from "@mui/styles"; import Link from "./Link"; import PrivateWrapper from "./PrivateWrapper"; -const useStyles = makeStyles(theme => ({ +const useStyles = makeStyles(() => ({ icon: { marginLeft: "20px", }, @@ -32,12 +33,24 @@ const useStyles = makeStyles(theme => ({ }, })); -function HeaderMenu({ items, placement }) { +type HeaderMenuItem = { + external: boolean; + name: string; + showOnlyPartner?: boolean; + url: string; +}; + +type HeaderMenuProps = { + items: HeaderMenuItem[]; + placement?: PopperPlacementType; +}; + +function HeaderMenu({ items, placement }: HeaderMenuProps): ReactElement { const classes = useStyles(); - const [anchorEl, setAnchorEl] = useState(null); + const [anchorEl, setAnchorEl] = useState(null); const isMenuOpen = Boolean(anchorEl); - const handleMenuToggle = event => { + const handleMenuToggle = (event: MouseEvent) => { setAnchorEl(anchorEl === null ? event.currentTarget : null); }; @@ -45,7 +58,7 @@ function HeaderMenu({ items, placement }) { setAnchorEl(null); }; - const handleListKeyDown = event => { + const handleListKeyDown = (event: KeyboardEvent) => { if (event.key === "Tab") { event.preventDefault(); setAnchorEl(null); @@ -62,11 +75,7 @@ function HeaderMenu({ items, placement }) { aria-haspopup="true" onClick={handleMenuToggle} > - {isMenuOpen ? ( - - ) : ( - - )} + - {items.map((item, i) => { + {items.map((item: HeaderMenuItem) => { if (item.showOnlyPartner) { return ( @@ -93,6 +102,7 @@ function HeaderMenu({ items, placement }) { external={item.external} to={item.url} className={classes.menuLink} + footer={false} > {item.name} @@ -107,7 +117,12 @@ function HeaderMenu({ items, placement }) { dense className={classes.menuItem} > - + {item.name} From 7db34dc903ff49f33e9edf24e36fc51c1084e0a4 Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:29:26 +0100 Subject: [PATCH 007/120] [Package]: migrate LabelChip component to TypeScript (#482) --- .../src/components/{LabelChip.jsx => LabelChip.tsx} | 12 ++++++++++-- 1 file changed, 10 insertions(+), 2 deletions(-) rename packages/ui/src/components/{LabelChip.jsx => LabelChip.tsx} (77%) diff --git a/packages/ui/src/components/LabelChip.jsx b/packages/ui/src/components/LabelChip.tsx similarity index 77% rename from packages/ui/src/components/LabelChip.jsx rename to packages/ui/src/components/LabelChip.tsx index abd4a7ff1..8a27532f0 100644 --- a/packages/ui/src/components/LabelChip.jsx +++ b/packages/ui/src/components/LabelChip.tsx @@ -1,7 +1,15 @@ import { Typography } from "@mui/material"; import OTTooltip from "./Tooltip"; +import { ReactElement } from "react"; -function LabelChip({ label, value, to, tooltip = null }) { +type LabelChipProps = { + label?: string; + to: string; + tooltip?: string | null; + value?: string; +}; + +function LabelChip({ label, value, to, tooltip = null }: LabelChipProps): ReactElement { const containerStyle = { display: "flex", borderRadius: "5px", @@ -27,7 +35,7 @@ function LabelChip({ label, value, to, tooltip = null }) { borderLeft: "1px solid #3489ca", }; return ( - + {label && (
From 8953508356450d8acbc580067005d58c66e0c9bb Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:30:03 +0100 Subject: [PATCH 008/120] [Package]: migrate Page component to TypeScript (#484) --- packages/ui/src/components/{Page.jsx => Page.tsx} | 13 ++++++++++--- 1 file changed, 10 insertions(+), 3 deletions(-) rename packages/ui/src/components/{Page.jsx => Page.tsx} (70%) diff --git a/packages/ui/src/components/Page.jsx b/packages/ui/src/components/Page.tsx similarity index 70% rename from packages/ui/src/components/Page.jsx rename to packages/ui/src/components/Page.tsx index 7f0c0ccdb..5d47a83a2 100644 --- a/packages/ui/src/components/Page.jsx +++ b/packages/ui/src/components/Page.tsx @@ -1,7 +1,8 @@ -import Grid from "@mui/material/Grid"; +import { Theme, Grid } from "@mui/material"; import { makeStyles } from "@mui/styles"; +import { ReactElement } from "react"; -const useStyles = makeStyles(theme => ({ +const useStyles = makeStyles((theme: Theme) => ({ page: { background: theme.palette.grey["50"], minHeight: "100vh", @@ -18,7 +19,13 @@ const useStyles = makeStyles(theme => ({ }, })); -function Page({ header, footer, children }) { +type PageProps = { + children: ReactElement; + footer: ReactElement; + header: ReactElement; +}; + +function Page({ header, footer, children }: PageProps) { const classes = useStyles(); return (
From 1d2a6d49e1641a081eae0b89c47d67ebd319b957 Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:30:24 +0100 Subject: [PATCH 009/120] [Package]: migrate Field component to TypeScript (#485) --- .../components/ProfileHeader/{Field.jsx => Field.tsx} | 9 ++++++++- 1 file changed, 8 insertions(+), 1 deletion(-) rename packages/ui/src/components/ProfileHeader/{Field.jsx => Field.tsx} (67%) diff --git a/packages/ui/src/components/ProfileHeader/Field.jsx b/packages/ui/src/components/ProfileHeader/Field.tsx similarity index 67% rename from packages/ui/src/components/ProfileHeader/Field.jsx rename to packages/ui/src/components/ProfileHeader/Field.tsx index 0a68af80b..a08b847bf 100644 --- a/packages/ui/src/components/ProfileHeader/Field.jsx +++ b/packages/ui/src/components/ProfileHeader/Field.tsx @@ -1,6 +1,13 @@ import { Skeleton, Typography } from "@mui/material"; +import { ReactNode } from "react"; -function Field({ title, loading, children }) { +type FieldProps = { + children?: ReactNode; + loading: boolean; + title: string; +}; + +function Field({ title, loading, children }: FieldProps): ReactNode { if (loading) return ; if (!children || (Array.isArray(children) && children.length === 0)) { From 58c4370661baa37bed55ba17c428a184124ea427 Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Tue, 8 Oct 2024 23:31:01 +0100 Subject: [PATCH 010/120] [Package]: migrate Description component to TypeScript (#486) --- .../{Description.jsx => Description.tsx} | 12 ++++++++++-- 1 file changed, 10 insertions(+), 2 deletions(-) rename packages/ui/src/components/ProfileHeader/{Description.jsx => Description.tsx} (56%) diff --git a/packages/ui/src/components/ProfileHeader/Description.jsx b/packages/ui/src/components/ProfileHeader/Description.tsx similarity index 56% rename from packages/ui/src/components/ProfileHeader/Description.jsx rename to packages/ui/src/components/ProfileHeader/Description.tsx index e4a878db9..aeda68a09 100644 --- a/packages/ui/src/components/ProfileHeader/Description.jsx +++ b/packages/ui/src/components/ProfileHeader/Description.tsx @@ -1,10 +1,18 @@ import { Skeleton, Typography } from "@mui/material"; import LongText from "../LongText"; +import { ReactNode } from "react"; -function Description({ children, loading = false }) { +type DescriptionProps = { + children?: ReactNode; + loading?: boolean; +}; + +function Description({ children, loading = false }: DescriptionProps): ReactNode { const content = children ? ( - {children} + + {children} + ) : ( "No description available" ); From a1d2c2dfafe3d03193add8647df8195282d07a7a Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Tue, 29 Oct 2024 11:30:08 +0000 Subject: [PATCH 011/120] [Platform]: table column and chart view (#479) Co-authored-by: Carlos Cruz --- apps/platform/src/theme.js | 3 +- .../sections/src/target/DepMap/DepmapPlot.jsx | 36 ++--- packages/ui/src/components/DataDownloader.jsx | 32 ++-- packages/ui/src/components/OtPopper.tsx | 10 ++ .../ui/src/components/OtTable/OtTable.tsx | 101 ++++++------ .../OtTable/OtTableColumnFilter.tsx | 6 +- .../OtTable/OtTableColumnVisibility.tsx | 76 +++++++++ .../src/components/OtTable/otTableLayout.tsx | 81 ++++++---- .../ui/src/components/OtTable/table.types.ts | 7 +- .../ui/src/components/OtTable/tableUtil.ts | 4 +- .../ui/src/components/Section/SectionItem.jsx | 112 -------------- .../ui/src/components/Section/SectionItem.tsx | 145 ++++++++++++++++++ .../components/Section/SectionViewToggle.tsx | 38 +++++ .../src/components/Section/sectionStyles.js | 16 +- packages/ui/src/components/Table/Table.jsx | 30 ++-- packages/ui/src/constants.js | 10 ++ packages/ui/src/index.tsx | 1 + 17 files changed, 456 insertions(+), 252 deletions(-) create mode 100644 packages/ui/src/components/OtPopper.tsx create mode 100644 packages/ui/src/components/OtTable/OtTableColumnVisibility.tsx delete mode 100644 packages/ui/src/components/Section/SectionItem.jsx create mode 100644 packages/ui/src/components/Section/SectionItem.tsx create mode 100644 packages/ui/src/components/Section/SectionViewToggle.tsx diff --git a/apps/platform/src/theme.js b/apps/platform/src/theme.js index 1c82c990e..24632de87 100644 --- a/apps/platform/src/theme.js +++ b/apps/platform/src/theme.js @@ -17,8 +17,7 @@ const theme = { }, monoText: { fontFamily: "'Roboto Mono', monospace", - fontWeight: 500, - fontSize: ".80rem", + fontSize: ".875rem", }, controlHeader: { fontSize: "1rem", diff --git a/packages/sections/src/target/DepMap/DepmapPlot.jsx b/packages/sections/src/target/DepMap/DepmapPlot.jsx index c839041f9..6be4e7308 100644 --- a/packages/sections/src/target/DepMap/DepmapPlot.jsx +++ b/packages/sections/src/target/DepMap/DepmapPlot.jsx @@ -36,28 +36,24 @@ function ChartControls({ data, query, variables }) { borderColor: grey[300], borderRadius: 1, display: "flex", - justifyContent: "space-between", - py: 1, - px: 2, + justifyContent: "flex-end", + gap: 1, }} > - - - row.depmapId, id: "depmapId" }, - { exportValue: row => row.cellLineName, id: "cellLineName" }, - { exportValue: row => row.diseaseFromSource, id: "diseaseFromSource" }, - { exportValue: row => row.geneEffect, id: "geneEffect" }, - { exportValue: row => row.expression, id: "expression" }, - { exportValue: row => row.tissueName, id: "tissueName" }, - ]} - /> - + row.depmapId, id: "depmapId" }, + { exportValue: row => row.cellLineName, id: "cellLineName" }, + { exportValue: row => row.diseaseFromSource, id: "diseaseFromSource" }, + { exportValue: row => row.geneEffect, id: "geneEffect" }, + { exportValue: row => row.expression, id: "expression" }, + { exportValue: row => row.tissueName, id: "tissueName" }, + ]} + /> ); } diff --git a/packages/ui/src/components/DataDownloader.jsx b/packages/ui/src/components/DataDownloader.jsx index 324397ad9..4870838fd 100644 --- a/packages/ui/src/components/DataDownloader.jsx +++ b/packages/ui/src/components/DataDownloader.jsx @@ -6,7 +6,6 @@ import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; import { faCode, faFileArrowDown, faTable } from "@fortawesome/free-solid-svg-icons"; import { Button, - Grid, CircularProgress, Snackbar, Slide, @@ -15,6 +14,7 @@ import { ListItemIcon, ListItemText, Typography, + Box, } from "@mui/material"; import "graphiql/graphiql.min.css"; import ApiPlaygroundDrawer from "./ApiPlaygroundDrawer"; @@ -159,20 +159,19 @@ function DataDownloader({ columns, rows, fileStem, query, variables, btnLabel = return ( <> - - - - - {query ? : null} - + + + + {query ? : null} @@ -195,6 +194,9 @@ function DataDownloader({ columns, rows, fileStem, query, variables, btnLabel = + + * Column settings and filters will not affect export + ({ + maxHeight: "60vh", + borderRadius: 4, + border: `1px solid ${theme.palette.grey[400]}`, + background: "white", +})); + +export default OtPopper; diff --git a/packages/ui/src/components/OtTable/OtTable.tsx b/packages/ui/src/components/OtTable/OtTable.tsx index a0f0304d6..eefd33620 100644 --- a/packages/ui/src/components/OtTable/OtTable.tsx +++ b/packages/ui/src/components/OtTable/OtTable.tsx @@ -34,6 +34,7 @@ import { OtTH, OtTableHeaderText, OtTD, + OtTableCellContainer, } from "./otTableLayout"; import DataDownloader from "../DataDownloader"; import { @@ -43,6 +44,7 @@ import { mapTableColumnToTanstackColumns, } from "./tableUtil"; import Tooltip from "../Tooltip"; +import OtTableColumnVisibility from "./OtTableColumnVisibility"; declare module "@tanstack/table-core" { interface FilterFns { @@ -88,6 +90,7 @@ function OtTable({ dataDownloaderFileStem, query, variables, + showColumnVisibilityControl = true, }: OtTableProps): ReactElement { const [globalFilter, setGlobalFilter] = useState(""); const [columnFilters, setColumnFilters] = useState([]); @@ -120,14 +123,14 @@ function OtTable({ return (
{/* Global Search */} - - {showGlobalFilter && ( - - - - )} - {dataDownloader && ( - + + + {showGlobalFilter && } + + + + {showColumnVisibilityControl && } + {dataDownloader && ( - - )} + )} + {/* Table component container */} theme.spacing(3) }}> @@ -153,40 +156,41 @@ function OtTable({ stickyColumn={header.column.columnDef.sticky} > {header.isPlaceholder ? null : ( - <> - - + + - - {flexRender(header.column.columnDef.header, header.getContext())} - - {!header.column.getIsSorted() && header.column.getCanSort() && ( - - )} - {{ - asc: , - desc: , - }[header.column.getIsSorted() as string] ?? null} - + {flexRender(header.column.columnDef.header, header.getContext())} + + {!header.column.getIsSorted() && header.column.getCanSort() && ( + + )} + {{ + asc: , + desc: , + }[header.column.getIsSorted() as string] ?? null} + - {header.column.getCanFilter() ? ( - - ) : null} - - + {header.column.getCanFilter() ? ( + + ) : null} + )} ); @@ -201,12 +205,12 @@ function OtTable({ {row.getVisibleCells().map(cell => { return ( - + {flexRender(cell.column.columnDef.cell, cell.getContext())} {/* TODO: check NA value */} {/* {Boolean(flexRender(cell.column.columnDef.cell, cell.getContext())) || naLabel} */} - + ); })} @@ -216,8 +220,6 @@ function OtTable({ - - {/* Table footer component container */}
+ + {/* + ************************ + * TABLE FOOTER ACTIONS * + ************************ + */} + }): ReactElement { /***************************************** @@ -64,7 +64,7 @@ function OtTableColumnFilter({ column }: { column: Column }): Reac {/* FILTER POPOVER */} - + {/* INPUT FOR COLUMN FILTER */} @@ -118,7 +118,7 @@ function OtTableColumnFilter({ column }: { column: Column }): Reac - +
diff --git a/packages/ui/src/components/OtTable/OtTableColumnVisibility.tsx b/packages/ui/src/components/OtTable/OtTableColumnVisibility.tsx new file mode 100644 index 000000000..ac296a820 --- /dev/null +++ b/packages/ui/src/components/OtTable/OtTableColumnVisibility.tsx @@ -0,0 +1,76 @@ +import { MouseEvent, ReactElement, useState } from "react"; +import { + Badge, + Box, + Button, + Checkbox, + ClickAwayListener, + FormControlLabel, + FormGroup, + List, + ListItemButton, +} from "@mui/material"; +import { faGear } from "@fortawesome/free-solid-svg-icons"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; + +import { OtTableColumnVisibilityProps } from "./table.types"; +import OtPopper from "../OtPopper"; + +function OtTableColumnVisibility({ table }: OtTableColumnVisibilityProps): ReactElement { + const [anchorEl, setAnchorEl] = useState(); + const open = Boolean(anchorEl); + const id = open ? "column-visibility-button" : undefined; + + function handleClick(event: MouseEvent): void { + setAnchorEl(event.currentTarget); + } + + function handleClose(): void { + setAnchorEl(null); + } + + function isLastColumnActive(column): boolean { + return table.getVisibleLeafColumns().length === 1 && column.getIsVisible(); + } + + function isColumnVisibilityStateChanged(): boolean { + return table.getVisibleLeafColumns().length !== table.getAllColumns().length; + } + + return ( + <> + + + + + + + + + + {table.getAllLeafColumns().map(column => ( + + + } + disabled={isLastColumnActive(column)} + label={column.columnDef.header || column.id} + /> + + ))} + + + + + + + ); +} +export default OtTableColumnVisibility; diff --git a/packages/ui/src/components/OtTable/otTableLayout.tsx b/packages/ui/src/components/OtTable/otTableLayout.tsx index cc05b2ad8..cb5b58164 100644 --- a/packages/ui/src/components/OtTable/otTableLayout.tsx +++ b/packages/ui/src/components/OtTable/otTableLayout.tsx @@ -1,5 +1,5 @@ import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; -import { Box, Popper, styled } from "@mui/material"; +import { Box, styled } from "@mui/material"; export const OtTableContainer = styled("table")(({ theme }) => ({ whiteSpace: "nowrap", @@ -33,33 +33,33 @@ export const OtTableContainer = styled("table")(({ theme }) => ({ export const OtTableHeader = styled("div", { shouldForwardProp: prop => prop !== "canBeSorted", -})(({ canBeSorted }) => ({ - display: "flex", - flexDirection: "row", - justifyContent: "space-between", - alignItems: "center", - cursor: canBeSorted ? "pointer" : "auto", - "& .sortableColumn": { - visibility: "hidden", - padding: "0 0.4rem", - }, - "&:hover .sortableColumn": { - visibility: "visible", - opacity: "0.5", - }, -})); +})(({ theme, canBeSorted, numeric }) => + theme.unstable_sx({ + display: "flex", + flexDirection: "row", + justifyContent: "flex-start", + alignItems: "center", + cursor: canBeSorted ? "pointer" : "auto", + "& .sortableColumn": { + visibility: "hidden", + padding: "0 0.4rem", + }, + "&:hover .sortableColumn": { + visibility: "visible", + opacity: "0.5", + }, + ...(numeric && { + display: "flex", + justifyContent: "flex-end", + pr: 2, + }), + }) +); export const FontAwesomeIconPadded = styled(FontAwesomeIcon)(({ theme }) => ({ padding: `0 ${theme.spacing(1)}`, })); -export const ColumnFilterPopper = styled(Popper)(({ theme }) => ({ - maxHeight: "60vh", - borderRadius: 4, - border: `1px solid ${theme.palette.grey[400]}`, - background: "white", -})); - export const OtTH = styled("th", { shouldForwardProp: prop => prop !== "stickyColumn", })(({ theme, stickyColumn }) => ({ @@ -84,13 +84,28 @@ export const OtTD = styled("td", { export const OtTableHeaderText = styled(Box, { shouldForwardProp: prop => prop !== "verticalHeader", -})(({ verticalHeader }) => ({ - typography: "subtitle2", - ...(verticalHeader && { - writingMode: "vertical-rl", - transform: "rotate(180deg)", - // TODO: TBC - maxHeight: "20rem", - height: "14rem", - }), -})); +})(({ theme, verticalHeader }) => + theme.unstable_sx({ + typography: "subtitle2", + ...(verticalHeader && { + writingMode: "vertical-rl", + transform: "rotate(180deg)", + maxHeight: "20rem", + height: "14rem", + }), + }) +); + +export const OtTableCellContainer = styled(Box, { + shouldForwardProp: prop => prop !== "numeric", +})(({ theme, numeric }) => + theme.unstable_sx({ + typography: "body2", + ...(numeric && { + display: "flex", + justifyContent: "flex-end", + typography: "monoText", + pr: 2, + }), + }) +); diff --git a/packages/ui/src/components/OtTable/table.types.ts b/packages/ui/src/components/OtTable/table.types.ts index 140455c71..5d853c425 100644 --- a/packages/ui/src/components/OtTable/table.types.ts +++ b/packages/ui/src/components/OtTable/table.types.ts @@ -1,5 +1,5 @@ import { DocumentNode } from "@apollo/client"; -import { ColumnDef } from "@tanstack/table-core"; +import { ColumnDef, Table } from "@tanstack/table-core"; /****************************** * OT TABLE CLIENT SIDE TYPES * @@ -24,6 +24,7 @@ export type OtTableProps = { dataDownloaderFileStem: string; query: DocumentNode; variables: Record; + showColumnVisibilityControl: boolean; }; /************************* @@ -33,3 +34,7 @@ export type OtTableProps = { export type OtTableSearchProps = { setGlobalSearchTerm: React.Dispatch>; }; + +export type OtTableColumnVisibilityProps = { + table: Table; +}; diff --git a/packages/ui/src/components/OtTable/tableUtil.ts b/packages/ui/src/components/OtTable/tableUtil.ts index 022e9b88b..cfe600ade 100644 --- a/packages/ui/src/components/OtTable/tableUtil.ts +++ b/packages/ui/src/components/OtTable/tableUtil.ts @@ -103,13 +103,13 @@ function mapToTanstackColumnObject( sortingFn: (rowA, rowB, column) => originalTableObject.comparator(rowA.original, rowB.original), }), - // ASSIGN EITHER CUSTOM FILTERVALUE OR ID accessorFn: (row: Record) => { + // ASSIGN EITHER CUSTOM FILTERVALUE OR ID if (originalTableObject.filterValue) return originalTableObject.filterValue(row); return getValueFromChainedId(originalTableObject.id, row); }, - // ASSIGN CELL EITHER CUSTOM RENDER CELL OR ID cell: ({ row }: { row: Record }) => { + // ASSIGN CELL EITHER CUSTOM RENDER CELL OR ID if (originalTableObject.renderCell) return originalTableObject.renderCell(row.original); return getValueFromChainedId(originalTableObject.id, row.original); }, diff --git a/packages/ui/src/components/Section/SectionItem.jsx b/packages/ui/src/components/Section/SectionItem.jsx deleted file mode 100644 index ff2e431a2..000000000 --- a/packages/ui/src/components/Section/SectionItem.jsx +++ /dev/null @@ -1,112 +0,0 @@ -import classNames from "classnames"; -import { - Avatar, - Box, - Card, - CardContent, - CardHeader, - Grid, - LinearProgress, - Typography, -} from "@mui/material"; -import { Element } from "react-scroll"; - -import ErrorBoundary from "../ErrorBoundary"; -import Chip from "../Chip"; -import SectionError from "./SectionError"; -import sectionStyles from "./sectionStyles"; -import { createShortName } from "../Summary/utils"; -import PartnerLockIcon from "../PartnerLockIcon"; - -function SectionItem({ - definition, - request, - renderDescription, - renderBody, - tags, - chipText, - entity, - showEmptySection = false, - showContentLoading = false, -}) { - const classes = sectionStyles(); - const { loading, error, data } = request; - const shortName = createShortName(definition); - let hasData = false; - - if (data && entity && data[entity]) { - hasData = definition.hasData(data[entity]); - } - - if (!hasData && !showEmptySection && !loading) return null; - - return ( - -
- - - - - {shortName} - - } - title={ - - - {definition.name} {definition.isPrivate ? : null} - - {chipText ? : null} - - } - subheader={ - - {renderDescription(data)} - - } - action={tags} - /> - {loading ? ( - - ) : ( - - )} - {error && } - {!loading && hasData && ( - {renderBody(data)} - )} - {!loading && !hasData && showEmptySection && ( - -
No data available for this {entity}.
-
- )} -
-
-
-
-
- ); -} - -export default SectionItem; diff --git a/packages/ui/src/components/Section/SectionItem.tsx b/packages/ui/src/components/Section/SectionItem.tsx new file mode 100644 index 000000000..b18ddc756 --- /dev/null +++ b/packages/ui/src/components/Section/SectionItem.tsx @@ -0,0 +1,145 @@ +import classNames from "classnames"; +import { + Avatar, + Box, + Card, + CardContent, + Divider, + Grid, + LinearProgress, + Typography, +} from "@mui/material"; +import { Element } from "react-scroll"; + +import ErrorBoundary from "../ErrorBoundary"; +import SectionError from "./SectionError"; +import sectionStyles from "./sectionStyles"; +import { createShortName } from "../Summary/utils"; +import PartnerLockIcon from "../PartnerLockIcon"; +import SectionViewToggle from "./SectionViewToggle"; +import { ReactNode, useState } from "react"; +import { VIEW } from "../../constants"; + +type definitionType = { + id: string; + name: string; + shortName?: string; + hasData: any; + isPrivate: boolean; +}; + +type SectionItemProps = { + definition: definitionType; + request: Record; + renderDescription: (data: any) => void; + renderChart: (data: any) => void | null; + renderBody: (data: any) => void; + // check tags + tags: string[]; + chipText: string; + entity: string; + showEmptySection: boolean; + // check use + showContentLoading: boolean; + defaultView: string; +}; + +function SectionItem({ + definition, + request, + renderDescription, + renderBody, + tags, + chipText, + entity, + showEmptySection = false, + showContentLoading = false, + renderChart, + defaultView = VIEW.table, +}: SectionItemProps): ReactNode { + const classes = sectionStyles(); + const { loading, error, data } = request; + const shortName = createShortName(definition); + let hasData = false; + const [selectedView, setSelectedView] = useState(defaultView); + + if (data && entity && data[entity]) { + hasData = definition.hasData(data[entity]); + } + + if (!hasData && !showEmptySection && !loading) return null; + + function getSelectedView() { + if (selectedView === VIEW.table) return renderBody(data); + return renderChart(data); + } + + return ( + +
+ + + + + {/* AVATAR */} + + {shortName} + + {/* HEADER, SUB-HEADER & CHIP */} + +
+ {definition.name} + {definition.isPrivate && } + {chipText && ( + + {chipText} + + )} +
+ + {renderDescription(data)} + +
+ {/* CHART VIEW SWITCH */} + + {renderChart && ( + + )} + +
+ + + {loading && ( + + )} + {error && } + {!loading && hasData && getSelectedView()} + {!loading && !hasData && showEmptySection && ( +
No data available for this {entity}.
+ )} +
+
+
+
+
+
+ ); +} + +export default SectionItem; diff --git a/packages/ui/src/components/Section/SectionViewToggle.tsx b/packages/ui/src/components/Section/SectionViewToggle.tsx new file mode 100644 index 000000000..fedea64e9 --- /dev/null +++ b/packages/ui/src/components/Section/SectionViewToggle.tsx @@ -0,0 +1,38 @@ +import { faChartPie, faTableColumns } from "@fortawesome/free-solid-svg-icons"; +import { FormControl, MenuItem, Select, SelectChangeEvent } from "@mui/material"; +import { ReactElement, useState } from "react"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { VIEW } from "../../constants"; + +type SectionViewToggleProps = { + defaultValue: string; + viewChange: (s: string) => void; +}; + +function SectionViewToggle({ + defaultValue = VIEW.table, + viewChange, +}: SectionViewToggleProps): ReactElement { + const [alignment, setAlignment] = useState(defaultValue); + + const handleAlignment = (event: SelectChangeEvent) => { + if (event.target.value) { + setAlignment(event.target.value); + viewChange(event.target.value); + } + }; + + return ( + + + + ); +} +export default SectionViewToggle; diff --git a/packages/ui/src/components/Section/sectionStyles.js b/packages/ui/src/components/Section/sectionStyles.js index 6867dd3d2..ecca7b859 100644 --- a/packages/ui/src/components/Section/sectionStyles.js +++ b/packages/ui/src/components/Section/sectionStyles.js @@ -19,6 +19,13 @@ const sectionStyles = makeStyles(theme => ({ paddingTop: 8, paddingBottom: 8, }, + cardHeaderContainer: { + display: "flex", + alignItems: "center", + justifyContent: "space-between", + gap: "1rem", + padding: "1rem", + }, cardContent: { borderTop: `1px solid ${theme.palette.grey[300]}`, minHeight: 36, @@ -41,6 +48,10 @@ const sectionStyles = makeStyles(theme => ({ color: theme.palette.grey[400], fontWeight: "bold !important", fontSize: "1.2rem !important", + display: "flex", + gap: "1rem", + alignItems: "center", + height: "100%", }, titleHasData: { color: theme.palette.grey[700], @@ -49,8 +60,9 @@ const sectionStyles = makeStyles(theme => ({ color: theme.palette.secondary.main, }, chip: { - position: "relative", - top: "5px", + padding: "0 8px", + borderRadius: 10, + border: `1px solid ${theme.palette.grey[500]}`, }, noData: { display: "flex", diff --git a/packages/ui/src/components/Table/Table.jsx b/packages/ui/src/components/Table/Table.jsx index dedbd3357..60632250d 100644 --- a/packages/ui/src/components/Table/Table.jsx +++ b/packages/ui/src/components/Table/Table.jsx @@ -83,20 +83,18 @@ const Table = ({ return ( - {showGlobalFilter && ( - - - - )} - {dataDownloader && ( - + + {showGlobalFilter && } + + + {dataDownloader && ( - - )} + )} + { return { baseUrl, body }; }; + +export const VIEW = { + chart: "Chart", + table: "Table", +}; + +// export enum DISPLAY_TYPE { +// CHART = "chart", +// TABLE = "table", +// } diff --git a/packages/ui/src/index.tsx b/packages/ui/src/index.tsx index 38b48130d..02557ac2d 100644 --- a/packages/ui/src/index.tsx +++ b/packages/ui/src/index.tsx @@ -35,6 +35,7 @@ export { default as DataDownloader } from "./components/DataDownloader"; export { default as Legend } from "./components/Legend"; export { default as ApiPlaygroundDrawer } from "./components/ApiPlaygroundDrawer"; export { default as OtTable } from "./components/OtTable/OtTable"; +export { default as OtPopper } from "./components/OtPopper"; export { default as EmptyPage } from "./pages/EmptyPage"; export { default as NotFoundPage } from "./pages/NotFoundPage"; From eb569b408a0ded2f1b133a102128e7599ab595f2 Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Wed, 30 Oct 2024 15:25:36 +0000 Subject: [PATCH 012/120] [Platform]: Section item logic update (#510) Co-authored-by: Carlos Cruz --- .../src/pages/DiseasePage/DiseasePage.tsx | 28 +- apps/platform/src/pages/DrugPage/DrugPage.jsx | 23 +- .../src/pages/EvidencePage/EvidencePage.jsx | 9 +- .../src/pages/TargetPage/TargetPage.tsx | 28 +- .../sections/src/common/KnownDrugs/Body.jsx | 31 +- .../sections/src/common/Literature/Body.jsx | 3 +- .../sections/src/disease/OTProjects/Body.jsx | 6 +- .../sections/src/disease/Ontology/Body.jsx | 26 +- .../sections/src/disease/Phenotypes/Body.jsx | 6 +- .../sections/src/drug/AdverseEvents/Body.jsx | 5 +- .../sections/src/drug/DrugWarnings/Body.jsx | 6 +- .../sections/src/drug/Indications/Body.jsx | 8 +- .../src/drug/MechanismsOfAction/Body.jsx | 7 +- .../src/drug/Pharmacogenomics/Body.jsx | 8 +- .../sections/src/evidence/CRISPR/Body.jsx | 6 +- .../src/evidence/CRISPRScreen/Body.jsx | 8 +- .../src/evidence/CancerBiomarkers/Body.jsx | 6 +- .../src/evidence/CancerGeneCensus/Body.jsx | 22 +- .../sections/src/evidence/Chembl/Body.jsx | 1 + .../sections/src/evidence/ClinGen/Body.jsx | 6 +- packages/sections/src/evidence/EVA/Body.jsx | 1 + .../sections/src/evidence/EVASomatic/Body.jsx | 1 + .../sections/src/evidence/EuropePmc/Body.jsx | 8 +- .../src/evidence/ExpressionAtlas/Body.jsx | 6 +- .../src/evidence/Gene2Phenotype/Body.jsx | 7 +- .../sections/src/evidence/GeneBurden/Body.jsx | 11 +- .../src/evidence/GenomicsEngland/Body.jsx | 9 +- packages/sections/src/evidence/Impc/Body.jsx | 1 + .../sections/src/evidence/IntOgen/Body.jsx | 16 +- .../sections/src/evidence/OTCRISPR/Body.jsx | 15 +- .../sections/src/evidence/OTEncore/Body.jsx | 7 +- .../sections/src/evidence/OTGenetics/Body.jsx | 9 +- .../src/evidence/OTValidation/Body.jsx | 9 +- .../sections/src/evidence/Orphanet/Body.jsx | 7 +- .../sections/src/evidence/Progeny/Body.jsx | 5 +- .../sections/src/evidence/Reactome/Body.jsx | 6 +- .../sections/src/evidence/SlapEnrich/Body.jsx | 7 +- .../sections/src/evidence/SysBio/Body.jsx | 7 +- .../src/evidence/UniProtLiterature/Body.jsx | 7 +- .../src/evidence/UniProtVariants/Body.jsx | 6 +- .../src/target/CancerHallmarks/Body.jsx | 9 +- .../src/target/ChemicalProbes/Body.jsx | 9 +- .../src/target/ComparativeGenomics/Body.jsx | 137 ++++++++- .../ComparativeGenomics/HomologyTable.jsx | 141 --------- packages/sections/src/target/DepMap/Body.jsx | 5 +- .../sections/src/target/Expression/Body.jsx | 7 +- .../sections/src/target/GeneOntology/Body.jsx | 8 +- .../src/target/GeneticConstraint/Body.jsx | 108 ++++++- .../GeneticConstraintTable.jsx | 112 ------- .../src/target/MolecularInteractions/Body.jsx | 1 + .../src/target/MousePhenotypes/Body.jsx | 72 ++++- .../MousePhenotypes/PhenotypesTable.jsx | 76 ----- .../sections/src/target/Pathways/Body.jsx | 48 ++- .../src/target/Pathways/PathwaysTable.jsx | 49 --- .../src/target/Pharmacogenomics/Body.jsx | 275 ++++++++++++++++- .../PharmacogenomicsTable.jsx | 278 ------------------ .../sections/src/target/ProtVista/Body.jsx | 6 +- packages/sections/src/target/Safety/Body.jsx | 149 +++++++++- .../src/target/Safety/SafetyTable.jsx | 151 ---------- .../src/target/SubcellularLocation/Body.jsx | 3 +- .../sections/src/target/Tractability/Body.jsx | 5 +- .../ui/src/components/OtTable/OtTable.tsx | 35 ++- .../src/components/OtTable/otTableLayout.tsx | 2 +- .../ui/src/components/OtTable/table.types.ts | 17 +- .../ui/src/components/OtTable/tableUtil.ts | 20 +- ...tionContainer.jsx => SectionContainer.tsx} | 7 +- .../{SectionError.jsx => SectionError.tsx} | 7 +- .../ui/src/components/Section/SectionItem.tsx | 34 +-- .../src/components/Section/SectionLoader.tsx | 22 +- 69 files changed, 1068 insertions(+), 1113 deletions(-) delete mode 100644 packages/sections/src/target/ComparativeGenomics/HomologyTable.jsx delete mode 100644 packages/sections/src/target/GeneticConstraint/GeneticConstraintTable.jsx delete mode 100644 packages/sections/src/target/MousePhenotypes/PhenotypesTable.jsx delete mode 100644 packages/sections/src/target/Pathways/PathwaysTable.jsx delete mode 100644 packages/sections/src/target/Pharmacogenomics/PharmacogenomicsTable.jsx delete mode 100644 packages/sections/src/target/Safety/SafetyTable.jsx rename packages/ui/src/components/Section/{SectionContainer.jsx => SectionContainer.tsx} (54%) rename packages/ui/src/components/Section/{SectionError.jsx => SectionError.tsx} (53%) diff --git a/apps/platform/src/pages/DiseasePage/DiseasePage.tsx b/apps/platform/src/pages/DiseasePage/DiseasePage.tsx index eaea4011e..b03260a4b 100644 --- a/apps/platform/src/pages/DiseasePage/DiseasePage.tsx +++ b/apps/platform/src/pages/DiseasePage/DiseasePage.tsx @@ -1,8 +1,8 @@ -import { ReactElement, Suspense } from "react"; +import { ReactElement } from "react"; import { useQuery } from "@apollo/client"; import { Box, Tab, Tabs } from "@mui/material"; import { Link, Redirect, Route, Switch, useLocation, useParams } from "react-router-dom"; -import { LoadingBackdrop, BasePage, ScrollToTop } from "ui"; +import { BasePage, ScrollToTop } from "ui"; import Header from "./Header"; import NotFoundPage from "../NotFoundPage"; @@ -69,19 +69,17 @@ function DiseasePage(): ReactElement { )} /> - }> - - - - - - - - - - - - + + + + + + + + + + + ); } diff --git a/apps/platform/src/pages/DrugPage/DrugPage.jsx b/apps/platform/src/pages/DrugPage/DrugPage.jsx index a46d743a0..92f384dbc 100644 --- a/apps/platform/src/pages/DrugPage/DrugPage.jsx +++ b/apps/platform/src/pages/DrugPage/DrugPage.jsx @@ -1,6 +1,5 @@ -import { lazy, Suspense } from "react"; import { useQuery } from "@apollo/client"; -import { BasePage, ScrollToTop, LoadingBackdrop } from "ui"; +import { BasePage, ScrollToTop } from "ui"; import { Box, Tabs, Tab } from "@mui/material"; import { useLocation, @@ -16,7 +15,7 @@ import Header from "./Header"; import NotFoundPage from "../NotFoundPage"; import DRUG_PAGE_QUERY from "./DrugPage.gql"; -const Profile = lazy(() => import("./Profile")); +import Profile from "./Profile"; function DrugPage() { const location = useLocation(); @@ -57,16 +56,14 @@ function DrugPage() { )} /> - }> - - - - - - - - - + + + + + + + + ); } diff --git a/apps/platform/src/pages/EvidencePage/EvidencePage.jsx b/apps/platform/src/pages/EvidencePage/EvidencePage.jsx index de1f537cb..d54043692 100644 --- a/apps/platform/src/pages/EvidencePage/EvidencePage.jsx +++ b/apps/platform/src/pages/EvidencePage/EvidencePage.jsx @@ -1,15 +1,14 @@ -import { Suspense, lazy } from "react"; import { useQuery } from "@apollo/client"; import { useLocation, useParams } from "react-router-dom"; -import { LoadingBackdrop, BasePage, ScrollToTop } from "ui"; +import { BasePage, ScrollToTop } from "ui"; import Header from "./Header"; import NotFoundPage from "../NotFoundPage"; import EVIDENCE_PAGE_QUERY from "./EvidencePageQuery.gql"; -const Profile = lazy(() => import("./Profile")); +import Profile from "./Profile"; function EvidencePage() { const location = useLocation(); @@ -33,9 +32,7 @@ function EvidencePage() { >
- }> - - + ); } diff --git a/apps/platform/src/pages/TargetPage/TargetPage.tsx b/apps/platform/src/pages/TargetPage/TargetPage.tsx index 9c3699799..d59368d6d 100644 --- a/apps/platform/src/pages/TargetPage/TargetPage.tsx +++ b/apps/platform/src/pages/TargetPage/TargetPage.tsx @@ -1,4 +1,4 @@ -import { ReactElement, Suspense } from "react"; +import { ReactElement } from "react"; import { useQuery } from "@apollo/client"; import { Box, Tab, Tabs } from "@mui/material"; import { @@ -10,7 +10,7 @@ import { useParams, Redirect, } from "react-router-dom"; -import { LoadingBackdrop, BasePage, ScrollToTop } from "ui"; +import { BasePage, ScrollToTop } from "ui"; import Header from "./Header"; import NotFoundPage from "../NotFoundPage"; @@ -90,19 +90,17 @@ function TargetPage(): ReactElement { )} /> - }> - - - - - - - - - - - - + + + + + + + + + + + ); } diff --git a/packages/sections/src/common/KnownDrugs/Body.jsx b/packages/sections/src/common/KnownDrugs/Body.jsx index 00fe1a642..8a9133dd4 100644 --- a/packages/sections/src/common/KnownDrugs/Body.jsx +++ b/packages/sections/src/common/KnownDrugs/Body.jsx @@ -129,6 +129,7 @@ function Body({ client, }) { const [initialLoading, setInitialLoading] = useState(true); + const [error, setError] = useState(null); const [loading, setLoading] = useState(false); const [count, setCount] = useState(0); const [cursor, setCursor] = useState(""); @@ -174,15 +175,24 @@ function Body({ () => { let isCurrent = true; - fetchDrugs(variables, null, pageSize).then(res => { - setInitialLoading(false); - if (res.data[entity].knownDrugs && isCurrent) { - const { cursor: newCursor, count: newCount, rows: newRows } = res.data[entity].knownDrugs; - setCursor(newCursor); - setCount(newCount); - setRows(newRows); - } - }); + fetchDrugs(variables, null, pageSize) + .then(res => { + setInitialLoading(false); + if (res.data[entity].knownDrugs && isCurrent) { + const { + cursor: newCursor, + count: newCount, + rows: newRows, + } = res.data[entity].knownDrugs; + setCursor(newCursor); + setCount(newCount); + setRows(newRows); + } + }) + .catch(e => { + setInitialLoading(false); + setError(e); + }); return () => { isCurrent = false; @@ -268,7 +278,7 @@ function Body({ entity={entity} request={{ loading: initialLoading, - error: false, + error, data: { [entity]: { knownDrugs: { @@ -279,6 +289,7 @@ function Body({ }, }, }} + showContentLoading={true} renderDescription={Description} renderBody={() => ( } + showContentLoading={true} renderBody={() => ( <> diff --git a/packages/sections/src/disease/OTProjects/Body.jsx b/packages/sections/src/disease/OTProjects/Body.jsx index 29c2af500..2738fac58 100644 --- a/packages/sections/src/disease/OTProjects/Body.jsx +++ b/packages/sections/src/disease/OTProjects/Body.jsx @@ -54,15 +54,15 @@ function Body({ label, id: efoId, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => ( + renderBody={() => ( )} /> diff --git a/packages/sections/src/disease/Ontology/Body.jsx b/packages/sections/src/disease/Ontology/Body.jsx index 762a9fc90..ce0c53ea7 100644 --- a/packages/sections/src/disease/Ontology/Body.jsx +++ b/packages/sections/src/disease/Ontology/Body.jsx @@ -7,7 +7,10 @@ import config from "../../config"; import { definition } from "./index"; function Body({ id: efoId, label: name, entity }) { - const [efoNodes, setEfoNodes] = useState(null); + const [efoNodes, setEfoNodes] = useState({ + allNodes: null, + filteredNodes: null, + }); useEffect(() => { let isCurrent = true; @@ -16,7 +19,11 @@ function Body({ id: efoId, label: name, entity }) { .then(lines => { if (isCurrent) { const nodes = lines.trim().split("\n").map(JSON.parse); - setEfoNodes(nodes); + const idToDisease = nodes.reduce((acc, disease) => { + acc[disease.id] = disease; + return acc; + }, {}); + setEfoNodes({ allNodes: nodes, filteredNodes: idToDisease }); } }); @@ -30,23 +37,20 @@ function Body({ id: efoId, label: name, entity }) { definition={definition} entity={entity} request={{ - loading: !efoNodes, + loading: !efoNodes.filteredNodes, data: { - [entity]: { efoNodes }, + [entity]: { efoNodes: efoNodes.allNodes }, }, }} + showContentLoading={true} renderDescription={() => } - renderBody={data => { - const idToDisease = data[entity].efoNodes.reduce((acc, disease) => { - acc[disease.id] = disease; - return acc; - }, {}); + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/disease/Phenotypes/Body.jsx b/packages/sections/src/disease/Phenotypes/Body.jsx index 78bd9c1ed..5be5fa74f 100644 --- a/packages/sections/src/disease/Phenotypes/Body.jsx +++ b/packages/sections/src/disease/Phenotypes/Body.jsx @@ -213,10 +213,10 @@ function Body({ label: name, id: efoId, entity }) { entity={entity} request={request} renderDescription={() => } - renderBody={({ disease }) => { + renderBody={() => { // process the data const rows = []; - disease.phenotypes.rows.forEach(p => + request.data?.disease.phenotypes.rows.forEach(p => p.evidence.forEach(e => { const p1 = { ...p }; p1.evidence = e; @@ -231,9 +231,9 @@ function Body({ label: name, id: efoId, entity }) { dataDownloader dataDownloaderFileStem={`${efoId}-phenotypes`} showGlobalFilter - rowsPerPageOptions={[10, 25, 50, 100]} query={PHENOTYPES_BODY_QUERY.loc.source.body} variables={variables} + loading={request.loading} /> ); }} diff --git a/packages/sections/src/drug/AdverseEvents/Body.jsx b/packages/sections/src/drug/AdverseEvents/Body.jsx index be417240b..c5fb26605 100644 --- a/packages/sections/src/drug/AdverseEvents/Body.jsx +++ b/packages/sections/src/drug/AdverseEvents/Body.jsx @@ -110,13 +110,14 @@ function Body({ id: chemblId, label: name, entity }) { definition={definition} request={{ loading, error, data }} entity={entity} + showContentLoading={true} renderDescription={() => } renderBody={res => { // TODO: Change GraphQL schema to have a maxLlr field instead of having // to get the first item of adverse events to get the largest llr since // items are sorted in decreasing llr order. - const maxLlr = res.drug.maxLlr.rows[0].logLR; - const { criticalValue, rows, count } = res.drug.adverseEvents; + const maxLlr = data?.drug.maxLlr.rows[0].logLR; + const { criticalValue, rows, count } = data?.drug.adverseEvents; return (
} - renderBody={({ drug }) => ( + renderBody={() => ( )} /> diff --git a/packages/sections/src/drug/Indications/Body.jsx b/packages/sections/src/drug/Indications/Body.jsx index 1ee0f7bee..3e2565a4d 100644 --- a/packages/sections/src/drug/Indications/Body.jsx +++ b/packages/sections/src/drug/Indications/Body.jsx @@ -74,22 +74,20 @@ function Body({ id: chemblId, label: name, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={data => { - const { rows } = data.drug.indications; - + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/drug/MechanismsOfAction/Body.jsx b/packages/sections/src/drug/MechanismsOfAction/Body.jsx index 95ab6da54..909d3e61a 100644 --- a/packages/sections/src/drug/MechanismsOfAction/Body.jsx +++ b/packages/sections/src/drug/MechanismsOfAction/Body.jsx @@ -75,18 +75,17 @@ function Body({ id: chemblId, label: name, entity }) { childMolecules={request.childMolecules || []} /> )} - renderBody={data => { - const { rows } = data.drug.mechanismsOfAction; - + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/drug/Pharmacogenomics/Body.jsx b/packages/sections/src/drug/Pharmacogenomics/Body.jsx index 281f5cee3..04b0b8fa6 100644 --- a/packages/sections/src/drug/Pharmacogenomics/Body.jsx +++ b/packages/sections/src/drug/Pharmacogenomics/Body.jsx @@ -202,7 +202,7 @@ function Body({ id: chemblId, label: name, entity }) { }, }, { - id: "confidenceLevel", + id: "evidenceLevel", label: "Confidence Level", sortable: true, tooltip: ( @@ -272,16 +272,16 @@ function Body({ id: chemblId, label: name, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ drug }) => ( + renderBody={() => ( )} /> diff --git a/packages/sections/src/evidence/CRISPR/Body.jsx b/packages/sections/src/evidence/CRISPR/Body.jsx index fe579426a..6c9271a6e 100644 --- a/packages/sections/src/evidence/CRISPR/Body.jsx +++ b/packages/sections/src/evidence/CRISPR/Body.jsx @@ -66,16 +66,16 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.crisprSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/CRISPRScreen/Body.jsx b/packages/sections/src/evidence/CRISPRScreen/Body.jsx index c3bceeb67..be9fbe11b 100644 --- a/packages/sections/src/evidence/CRISPRScreen/Body.jsx +++ b/packages/sections/src/evidence/CRISPRScreen/Body.jsx @@ -107,7 +107,7 @@ const getColumns = label => [ return row.resourceScore ? parseFloat(row.resourceScore.toFixed(6)) : naLabel; } }, - filterValue: row => `${parseFloat(row.resourceScore.toFixed(6))} ${row.statisticalTestTail}`, + filterValue: row => `${parseFloat(row.resourceScore?.toFixed(6))} ${row.statisticalTestTail}`, width: "9%", }, { @@ -206,12 +206,11 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.CrisprScreenSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/CancerBiomarkers/Body.jsx b/packages/sections/src/evidence/CancerBiomarkers/Body.jsx index 2444493b8..514bd31ec 100644 --- a/packages/sections/src/evidence/CancerBiomarkers/Body.jsx +++ b/packages/sections/src/evidence/CancerBiomarkers/Body.jsx @@ -107,17 +107,17 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.cancerBiomarkersSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/CancerGeneCensus/Body.jsx b/packages/sections/src/evidence/CancerGeneCensus/Body.jsx index 06b0d8d5a..2c02376c6 100644 --- a/packages/sections/src/evidence/CancerGeneCensus/Body.jsx +++ b/packages/sections/src/evidence/CancerGeneCensus/Body.jsx @@ -17,7 +17,10 @@ import CANCER_GENE_CENSUS_QUERY from "./sectionQuery.gql"; const samplePercent = item => (item.numberSamplesWithMutationType / item.numberSamplesTested) * 100; -const getMaxPercent = row => Math.max(...row.mutatedSamples.map(item => samplePercent(item))); +const getMaxPercent = row => { + if (row.mutatedSamples) return Math.max(...row.mutatedSamples.map(item => samplePercent(item))); + return null; +}; const getColumns = label => [ { @@ -57,7 +60,7 @@ const getColumns = label => [ { id: "mutatedSamples", propertyPath: "mutatedSamples.numberSamplesWithMutationType", - sortable: "true", + sortable: true, label: "Mutated / Total samples", renderCell: ({ mutatedSamples }) => { if (!mutatedSamples) return naLabel; @@ -140,15 +143,10 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ - disease: { - cancerGeneCensusSummary: { rows }, - }, - target: { hallmarks }, - }) => { + renderBody={() => { const roleInCancerItems = - hallmarks && hallmarks.attributes.length > 0 - ? hallmarks.attributes + request.data?.target.hallmarks && request.data?.target.hallmarks.attributes.length > 0 + ? request.data?.target.hallmarks.attributes .filter(attribute => attribute.name === "role in cancer") .map(attribute => ({ label: attribute.description, @@ -168,12 +166,12 @@ function Body({ id, label, entity }) { columns={columns} dataDownloader order="asc" - rows={rows} - rowsPerPageOptions={defaultRowsPerPageOptions} + rows={request.data?.disease.cancerGeneCensusSummary.rows} showGlobalFilter sortBy="mutatedSamples" query={CANCER_GENE_CENSUS_QUERY.loc.source.body} variables={variables} + loading={request.loading} /> ); diff --git a/packages/sections/src/evidence/Chembl/Body.jsx b/packages/sections/src/evidence/Chembl/Body.jsx index 614d2b55c..f8a4c1b54 100644 --- a/packages/sections/src/evidence/Chembl/Body.jsx +++ b/packages/sections/src/evidence/Chembl/Body.jsx @@ -380,6 +380,7 @@ function Body({ id, label, entity }) { definition={definition} chipText={dataTypesMap.known_drug} entity={entity} + showContentLoading={true} request={{ loading: initialLoading, data: { [entity]: { chembl: { rows, count: rows.length } } }, diff --git a/packages/sections/src/evidence/ClinGen/Body.jsx b/packages/sections/src/evidence/ClinGen/Body.jsx index 05bd8b3e5..0f1d55b6f 100644 --- a/packages/sections/src/evidence/ClinGen/Body.jsx +++ b/packages/sections/src/evidence/ClinGen/Body.jsx @@ -101,17 +101,17 @@ function Body({ id, label, entity }) { chipText={dataTypesMap.genetic_association} request={request} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.clingenSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/EVA/Body.jsx b/packages/sections/src/evidence/EVA/Body.jsx index 51398677c..d6010a747 100644 --- a/packages/sections/src/evidence/EVA/Body.jsx +++ b/packages/sections/src/evidence/EVA/Body.jsx @@ -404,6 +404,7 @@ function Body({ id, label, entity }) { definition={definition} chipText={dataTypesMap.genetic_association} entity={entity} + showContentLoading={true} request={{ loading: initialLoading, data: { [entity]: { eva: { rows, count: rows.length } } }, diff --git a/packages/sections/src/evidence/EVASomatic/Body.jsx b/packages/sections/src/evidence/EVASomatic/Body.jsx index cca2edd26..f1770c898 100644 --- a/packages/sections/src/evidence/EVASomatic/Body.jsx +++ b/packages/sections/src/evidence/EVASomatic/Body.jsx @@ -373,6 +373,7 @@ function Body({ id, label, entity }) { loading: initialLoading, data: { [entity]: { eva_somatic: { rows, count: rows.length } } }, }} + showContentLoading={true} entity={entity} renderDescription={() => } renderBody={() => { diff --git a/packages/sections/src/evidence/EuropePmc/Body.jsx b/packages/sections/src/evidence/EuropePmc/Body.jsx index 06bffeea0..02ec58edb 100644 --- a/packages/sections/src/evidence/EuropePmc/Body.jsx +++ b/packages/sections/src/evidence/EuropePmc/Body.jsx @@ -252,8 +252,12 @@ function Body({ id, label, entity }) { chipText={dataTypesMap.literature} request={{ loading, error, data }} renderDescription={() => } - renderBody={res => { - const rows = mergeData(getPage(res.disease.europePmc.rows, page, pageSize), literatureData); + showContentLoading={true} + renderBody={() => { + const rows = mergeData( + getPage(data?.disease.europePmc.rows, page, pageSize), + literatureData + ); return (
} - renderBody={({ disease }) => { - const { rows } = disease.expressionAtlasSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/Gene2Phenotype/Body.jsx b/packages/sections/src/evidence/Gene2Phenotype/Body.jsx index c0833bf19..49f2ad191 100644 --- a/packages/sections/src/evidence/Gene2Phenotype/Body.jsx +++ b/packages/sections/src/evidence/Gene2Phenotype/Body.jsx @@ -156,17 +156,16 @@ function Body({ id: { ensgId, efoId }, label: { symbol, name }, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={data => ( + renderBody={() => ( )} /> diff --git a/packages/sections/src/evidence/GeneBurden/Body.jsx b/packages/sections/src/evidence/GeneBurden/Body.jsx index a1a7241eb..d2e420348 100644 --- a/packages/sections/src/evidence/GeneBurden/Body.jsx +++ b/packages/sections/src/evidence/GeneBurden/Body.jsx @@ -241,23 +241,22 @@ export function Body({ id, label, entity }) { chipText={dataTypesMap.genetic_association} entity={entity} request={request} - renderDescription={data => ( - + renderDescription={() => ( + )} - renderBody={({ disease }) => { - const { rows } = disease.geneBurdenSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/GenomicsEngland/Body.jsx b/packages/sections/src/evidence/GenomicsEngland/Body.jsx index 96ec70346..02d28482c 100644 --- a/packages/sections/src/evidence/GenomicsEngland/Body.jsx +++ b/packages/sections/src/evidence/GenomicsEngland/Body.jsx @@ -35,7 +35,7 @@ const confidenceMap = confidence => ({ green: 20, amber: 10, - }[confidence.toLowerCase()] || 0); + }[confidence?.toLowerCase()] || 0); const allelicRequirementsCaption = allelicRequirements => { const caption = sentenceCase(allelicRequirements.split(" ", 1)[0].replace(/[;:,]*/g, "")); @@ -177,19 +177,18 @@ export function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={data => ( + renderBody={() => ( )} /> diff --git a/packages/sections/src/evidence/Impc/Body.jsx b/packages/sections/src/evidence/Impc/Body.jsx index 8bca7f37a..e6b81540a 100644 --- a/packages/sections/src/evidence/Impc/Body.jsx +++ b/packages/sections/src/evidence/Impc/Body.jsx @@ -264,6 +264,7 @@ function Body({ id, label, entity }) { data: { [entity]: { impc: { rows, count: rows.length } } }, }} entity={entity} + showContentLoading={true} renderDescription={() => } renderBody={() => (
} - renderBody={({ - disease: { - intOgen: { rows }, - }, - target: { hallmarks }, - }) => { + renderBody={() => { const roleInCancerItems = - hallmarks && hallmarks.attributes.length > 0 - ? hallmarks.attributes + request.data?.target.hallmarks && request.data?.target.hallmarks.attributes.length > 0 + ? request.data?.target.hallmarks.attributes .filter(attribute => attribute.name === "role in cancer") .map(attribute => ({ label: attribute.description, @@ -191,13 +186,12 @@ function Body({ id, label, entity }) { dataDownloader dataDownloaderFileStem={`otgenetics-${ensgId}-${efoId}`} order="asc" - rows={rows} + rows={request.data?.disease.intOgen.rows} sortBy="resourceScore" - pageSize={10} - rowsPerPageOptions={defaultRowsPerPageOptions} showGlobalFilter query={INTOGEN_QUERY.loc.source.body} variables={variables} + loading={request.loading} /> ); diff --git a/packages/sections/src/evidence/OTCRISPR/Body.jsx b/packages/sections/src/evidence/OTCRISPR/Body.jsx index 3ce9d85b9..25407dea4 100644 --- a/packages/sections/src/evidence/OTCRISPR/Body.jsx +++ b/packages/sections/src/evidence/OTCRISPR/Body.jsx @@ -5,7 +5,7 @@ import { SectionItem, Link, Tooltip, OtTable, TooltipStyledLabel } from "ui"; import { definition } from "."; import Description from "./Description"; import { dataTypesMap } from "../../dataTypes"; -import { defaultRowsPerPageOptions, sectionsBaseSizeQuery } from "../../constants"; +import { defaultRowsPerPageOptions, naLabel, sectionsBaseSizeQuery } from "../../constants"; import CRISPR_QUERY from "./OTCrisprQuery.gql"; @@ -83,7 +83,7 @@ const getColumns = () => [ id: "resourceScore", label: "Significance", filterValue: row => `${row.resourceScore}; ${row.statisticalTestTail}`, - renderCell: row => (row.resourceScore ? parseFloat(row.resourceScore.toFixed(6)) : "N/A"), + renderCell: row => (row.resourceScore ? parseFloat(row.resourceScore?.toFixed(6)) : naLabel), }, { id: "releaseVersion", @@ -152,15 +152,14 @@ function Body({ id, label, entity }) { chipText={dataTypesMap.ot_partner} request={request} entity={entity} - renderDescription={data => ( - + renderDescription={() => ( + )} - renderBody={({ disease }) => { - const { rows } = disease.OtCrisprSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/OTEncore/Body.jsx b/packages/sections/src/evidence/OTEncore/Body.jsx index f6160395e..08effeda4 100644 --- a/packages/sections/src/evidence/OTEncore/Body.jsx +++ b/packages/sections/src/evidence/OTEncore/Body.jsx @@ -233,12 +233,11 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.otEncoreSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/OTGenetics/Body.jsx b/packages/sections/src/evidence/OTGenetics/Body.jsx index 79fdc4060..88ffd4062 100644 --- a/packages/sections/src/evidence/OTGenetics/Body.jsx +++ b/packages/sections/src/evidence/OTGenetics/Body.jsx @@ -233,7 +233,7 @@ function getColumns(label) { ), numeric: true, sortable: true, - renderCell: ({ resourceScore }) => parseFloat(resourceScore.toFixed(5)), + renderCell: ({ resourceScore }) => parseFloat(resourceScore?.toFixed(5)), }, ]; } @@ -255,19 +255,18 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={data => ( + renderBody={() => ( )} /> diff --git a/packages/sections/src/evidence/OTValidation/Body.jsx b/packages/sections/src/evidence/OTValidation/Body.jsx index ec378aa8b..6632daf63 100644 --- a/packages/sections/src/evidence/OTValidation/Body.jsx +++ b/packages/sections/src/evidence/OTValidation/Body.jsx @@ -221,25 +221,22 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.otValidationSummary; + renderBody={() => { return ( <> ); diff --git a/packages/sections/src/evidence/Orphanet/Body.jsx b/packages/sections/src/evidence/Orphanet/Body.jsx index a63376169..761a65b55 100644 --- a/packages/sections/src/evidence/Orphanet/Body.jsx +++ b/packages/sections/src/evidence/Orphanet/Body.jsx @@ -179,19 +179,18 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.orphanetSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/Progeny/Body.jsx b/packages/sections/src/evidence/Progeny/Body.jsx index 0207bc4bc..ae97ec726 100644 --- a/packages/sections/src/evidence/Progeny/Body.jsx +++ b/packages/sections/src/evidence/Progeny/Body.jsx @@ -85,13 +85,12 @@ function Body({ id, label, entity }) { dataDownloader dataDownloaderFileStem={`otgenetics-${ensgId}-${efoId}`} order="asc" - rows={data.disease.progeny.rows} - pageSize={10} - rowsPerPageOptions={defaultRowsPerPageOptions} + rows={request.data?.disease.progeny.rows} showGlobalFilter sortBy="resourceScore" query={PROGENY_QUERY.loc.source.body} variables={variables} + loading={request.loading} /> )} /> diff --git a/packages/sections/src/evidence/Reactome/Body.jsx b/packages/sections/src/evidence/Reactome/Body.jsx index b3af8d2f6..517d59d4b 100644 --- a/packages/sections/src/evidence/Reactome/Body.jsx +++ b/packages/sections/src/evidence/Reactome/Body.jsx @@ -159,12 +159,11 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.reactomeSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/SlapEnrich/Body.jsx b/packages/sections/src/evidence/SlapEnrich/Body.jsx index 2fe643f4f..a4feb1680 100644 --- a/packages/sections/src/evidence/SlapEnrich/Body.jsx +++ b/packages/sections/src/evidence/SlapEnrich/Body.jsx @@ -78,19 +78,18 @@ function Body({ id, label, entity }) { chipText={dataTypesMap.affected_pathway} request={request} renderDescription={() => } - renderBody={data => ( + renderBody={() => ( )} /> diff --git a/packages/sections/src/evidence/SysBio/Body.jsx b/packages/sections/src/evidence/SysBio/Body.jsx index e1e615307..121875f18 100644 --- a/packages/sections/src/evidence/SysBio/Body.jsx +++ b/packages/sections/src/evidence/SysBio/Body.jsx @@ -76,17 +76,16 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={data => ( + renderBody={() => ( )} /> diff --git a/packages/sections/src/evidence/UniProtLiterature/Body.jsx b/packages/sections/src/evidence/UniProtLiterature/Body.jsx index 7c38310de..f3aa8cb9e 100644 --- a/packages/sections/src/evidence/UniProtLiterature/Body.jsx +++ b/packages/sections/src/evidence/UniProtLiterature/Body.jsx @@ -91,17 +91,16 @@ function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.uniprotLiteratureSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/evidence/UniProtVariants/Body.jsx b/packages/sections/src/evidence/UniProtVariants/Body.jsx index 7e1b894ed..fa9d575c0 100644 --- a/packages/sections/src/evidence/UniProtVariants/Body.jsx +++ b/packages/sections/src/evidence/UniProtVariants/Body.jsx @@ -121,17 +121,17 @@ export function Body({ id, label, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ disease }) => { - const { rows } = disease.uniprotVariantsSummary; + renderBody={() => { return ( ); }} diff --git a/packages/sections/src/target/CancerHallmarks/Body.jsx b/packages/sections/src/target/CancerHallmarks/Body.jsx index dac40c2d1..b3f4c8919 100644 --- a/packages/sections/src/target/CancerHallmarks/Body.jsx +++ b/packages/sections/src/target/CancerHallmarks/Body.jsx @@ -67,14 +67,14 @@ function Section({ id, label: symbol, entity }) { entity={entity} request={request} renderDescription={() => } - renderBody={data => { - const roleInCancer = data.target.hallmarks.attributes + renderBody={() => { + const roleInCancer = request.data?.target.hallmarks.attributes .filter(a => a.name === "role in cancer") .map(r => ({ label: r.description, url: `http://europepmc.org/search?query=EXT_ID:${r.pmid}`, })); - const rows = data.target.hallmarks.cancerHallmarks.map(r => ({ + const rows = request.data?.target.hallmarks.cancerHallmarks.map(r => ({ label: r.label, activity: r.impact === "promotes" ? "promotes" : "suppresses", description: r.description, @@ -85,7 +85,7 @@ function Section({ id, label: symbol, entity }) { <> Role in cancer: - 0 ? roleInCancer : [{ label: "Unknown" }]} /> + 0 ? roleInCancer : [{ label: "Unknown" }]} /> ); diff --git a/packages/sections/src/target/ChemicalProbes/Body.jsx b/packages/sections/src/target/ChemicalProbes/Body.jsx index 81c2b466b..5b32fd15e 100644 --- a/packages/sections/src/target/ChemicalProbes/Body.jsx +++ b/packages/sections/src/target/ChemicalProbes/Body.jsx @@ -94,10 +94,10 @@ function Body({ id, label: symbol, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={data => { + renderBody={() => { // sort probes manually as we need a custom sort based score, quality and origin const sortedProbes = _.orderBy( - data.target.chemicalProbes, + request.data?.target.chemicalProbes, [ "probesDrugsScore", "isHighQuality", @@ -106,7 +106,7 @@ function Body({ id, label: symbol, entity }) { ["desc", "desc", "desc"] ); - return data.target.chemicalProbes?.length > 0 ? ( + return request.data?.target.chemicalProbes?.length > 0 ? ( ) : null; }} diff --git a/packages/sections/src/target/ComparativeGenomics/Body.jsx b/packages/sections/src/target/ComparativeGenomics/Body.jsx index 47fa4fa27..6f0707fcd 100644 --- a/packages/sections/src/target/ComparativeGenomics/Body.jsx +++ b/packages/sections/src/target/ComparativeGenomics/Body.jsx @@ -1,26 +1,151 @@ import { useQuery } from "@apollo/client"; -import { SectionItem } from "ui"; +import { makeStyles } from "@mui/styles"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faStar as faStarSolid } from "@fortawesome/free-solid-svg-icons"; +import { faStar } from "@fortawesome/free-regular-svg-icons"; +import { SectionItem, Link, Tooltip, OtTable } from "ui"; import { definition } from "."; -import HomologyTable from "./HomologyTable"; import Description from "./Description"; - import COMP_GENOMICS_QUERY from "./CompGenomics.gql"; +import ChimpanzeeIcon from "./ChimpanzeeIcon"; +import HumanIcon from "./HumanIcon"; +import RatIcon from "./RatIcon"; +import FrogIcon from "./FrogIcon"; +import DogIcon from "./DogIcon"; +import FlyIcon from "./FlyIcon"; +import RabbitIcon from "./RabbitIcon"; +import MacaqueIcon from "./MacaqueIcon"; +import PigIcon from "./PigIcon"; +import WormIcon from "./WormIcon"; +import ZebrafishIcon from "./ZebrafishIcon"; +import GuineaPigIcon from "./GuineaPigIcon"; +import MouseIcon from "./MouseIcon"; + +import { identifiersOrgLink } from "../../utils/global"; +import { decimalPlaces } from "../../constants"; + +// map species ids to species icon component +const speciesIcons = { + 9598: ChimpanzeeIcon, + 10116: RatIcon, + 9606: HumanIcon, + 8364: FrogIcon, + 9615: DogIcon, + 7227: FlyIcon, + 9986: RabbitIcon, + 9544: MacaqueIcon, + 9823: PigIcon, + 6239: WormIcon, + 7955: ZebrafishIcon, + 10141: GuineaPigIcon, + 10090: MouseIcon, +}; + +const useStyles = makeStyles(theme => ({ + star: { + color: theme.palette.primary.main, + }, + iconContainer: { + display: "inline-block", + textAlign: "right", + width: "43px", + marginRight: "5px", + }, + container: { + display: "inline-block", + width: "16px", + }, +})); + +function getColumns(classes) { + return [ + { + id: "speciesName", + label: "Species", + renderCell: ({ speciesId, speciesName }) => { + const SpeciesIcon = speciesIcons[speciesId]; + return ( + <> + + + {" "} + {speciesName} + + ); + }, + }, + { + id: "homologyType", + label: "Homology type", + renderCell: ({ isHighConfidence, homologyType }) => ( + <> + + {isHighConfidence === "NULL" ? null : ( + + + + + + )} + {" "} + {homologyType.replaceAll("_", " ")} + + ), + }, + { + id: "targetGeneSymbol", + label: "Homologue", + renderCell: ({ targetGeneId, targetGeneSymbol }) => ( + + {targetGeneSymbol || targetGeneId} + + ), + }, + { + id: "queryPercentageIdentity", + label: `Query %id`, + renderCell: ({ queryPercentageIdentity }) => + queryPercentageIdentity ? queryPercentageIdentity.toFixed(decimalPlaces) : "N/A", + }, + { + id: "targetPercentageIdentity", + label: `Target %id`, + renderCell: ({ targetPercentageIdentity }) => + targetPercentageIdentity ? targetPercentageIdentity.toFixed(decimalPlaces) : "N/A", + }, + ]; +} function Body({ id: ensemblId, label: symbol, entity }) { + const classes = useStyles(); const variables = { ensemblId }; const request = useQuery(COMP_GENOMICS_QUERY, { variables }); + return ( } - renderBody={data => ( - ( + )} /> diff --git a/packages/sections/src/target/ComparativeGenomics/HomologyTable.jsx b/packages/sections/src/target/ComparativeGenomics/HomologyTable.jsx deleted file mode 100644 index 8e452535c..000000000 --- a/packages/sections/src/target/ComparativeGenomics/HomologyTable.jsx +++ /dev/null @@ -1,141 +0,0 @@ -import { makeStyles } from "@mui/styles"; -import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; -import { faStar as faStarSolid } from "@fortawesome/free-solid-svg-icons"; -import { faStar } from "@fortawesome/free-regular-svg-icons"; -import { Link, Tooltip, OtTable } from "ui"; - -import { identifiersOrgLink } from "../../utils/global"; -import { defaultRowsPerPageOptions, decimalPlaces } from "../../constants"; - -import ChimpanzeeIcon from "./ChimpanzeeIcon"; -import HumanIcon from "./HumanIcon"; -import RatIcon from "./RatIcon"; -import FrogIcon from "./FrogIcon"; -import DogIcon from "./DogIcon"; -import FlyIcon from "./FlyIcon"; -import RabbitIcon from "./RabbitIcon"; -import MacaqueIcon from "./MacaqueIcon"; -import PigIcon from "./PigIcon"; -import WormIcon from "./WormIcon"; -import ZebrafishIcon from "./ZebrafishIcon"; -import GuineaPigIcon from "./GuineaPigIcon"; -import MouseIcon from "./MouseIcon"; - -// map species ids to species icon component -const speciesIcons = { - 9598: ChimpanzeeIcon, - 10116: RatIcon, - 9606: HumanIcon, - 8364: FrogIcon, - 9615: DogIcon, - 7227: FlyIcon, - 9986: RabbitIcon, - 9544: MacaqueIcon, - 9823: PigIcon, - 6239: WormIcon, - 7955: ZebrafishIcon, - 10141: GuineaPigIcon, - 10090: MouseIcon, -}; - -const useStyles = makeStyles(theme => ({ - star: { - color: theme.palette.primary.main, - }, - iconContainer: { - display: "inline-block", - textAlign: "right", - width: "43px", - marginRight: "5px", - }, - container: { - display: "inline-block", - width: "16px", - }, -})); - -function getColumns(classes) { - return [ - { - id: "speciesName", - label: "Species", - renderCell: ({ speciesId, speciesName }) => { - const SpeciesIcon = speciesIcons[speciesId]; - return ( - <> - - - {" "} - {speciesName} - - ); - }, - }, - { - id: "homologyType", - label: "Homology type", - renderCell: ({ isHighConfidence, homologyType }) => ( - <> - - {isHighConfidence === "NULL" ? null : ( - - - - - - )} - {" "} - {homologyType.replaceAll("_", " ")} - - ), - }, - { - id: "targetGeneSymbol", - label: "Homologue", - renderCell: ({ targetGeneId, targetGeneSymbol }) => ( - - {targetGeneSymbol || targetGeneId} - - ), - }, - { - id: "queryPercentageIdentity", - label: `Query %id`, - renderCell: ({ queryPercentageIdentity }) => - queryPercentageIdentity ? queryPercentageIdentity.toFixed(decimalPlaces) : "N/A", - }, - { - id: "targetPercentageIdentity", - label: `Target %id`, - renderCell: ({ targetPercentageIdentity }) => - targetPercentageIdentity ? targetPercentageIdentity.toFixed(decimalPlaces) : "N/A", - }, - ]; -} - -function HomologyTableTab({ homologues, query, variables }) { - const classes = useStyles(); - - return ( - - ); -} - -export default HomologyTableTab; diff --git a/packages/sections/src/target/DepMap/Body.jsx b/packages/sections/src/target/DepMap/Body.jsx index b90bcd0e0..bcd08b12e 100644 --- a/packages/sections/src/target/DepMap/Body.jsx +++ b/packages/sections/src/target/DepMap/Body.jsx @@ -16,9 +16,10 @@ function Section({ id, label: symbol, entity }) { entity={entity} request={request} renderDescription={() => } - renderBody={data => ( + showContentLoading={true} + renderBody={() => ( diff --git a/packages/sections/src/target/Expression/Body.jsx b/packages/sections/src/target/Expression/Body.jsx index ec085a9cc..e652e0b7f 100644 --- a/packages/sections/src/target/Expression/Body.jsx +++ b/packages/sections/src/target/Expression/Body.jsx @@ -57,17 +57,18 @@ function Section({ id: ensgId, label: symbol, entity }) { definition={definition} entity={entity} request={request} + showContentLoading={true} renderDescription={() => } - renderBody={data => ( + renderBody={() => ( <> - {tab === "summary" && } + {tab === "summary" && } {tab === "atlas" && } - {tab === "gtex" && } + {tab === "gtex" && } )} /> diff --git a/packages/sections/src/target/GeneOntology/Body.jsx b/packages/sections/src/target/GeneOntology/Body.jsx index 16eb6afad..5cd031a71 100644 --- a/packages/sections/src/target/GeneOntology/Body.jsx +++ b/packages/sections/src/target/GeneOntology/Body.jsx @@ -147,8 +147,11 @@ function Section({ id, label: symbol, entity }) { entity={entity} request={request} renderDescription={() => } - renderBody={({ target }) => { - const rows = sortBy(target.geneOntology.map(extractCategory), "category.label"); + renderBody={() => { + const rows = sortBy( + request.data?.target.geneOntology.map(extractCategory), + "category.label" + ); return ( ); }} diff --git a/packages/sections/src/target/GeneticConstraint/Body.jsx b/packages/sections/src/target/GeneticConstraint/Body.jsx index bf37c3351..cb846357f 100644 --- a/packages/sections/src/target/GeneticConstraint/Body.jsx +++ b/packages/sections/src/target/GeneticConstraint/Body.jsx @@ -1,11 +1,104 @@ -import { SectionItem } from "ui"; +import { makeStyles } from "@mui/styles"; import { useQuery } from "@apollo/client"; -import GeneticConstraintTable from "./GeneticConstraintTable"; +import { SectionItem, Link, Tooltip, OtTable } from "ui"; import { definition } from "."; import Description from "./Description"; +import upperBin6Map from "./upperBin6Map"; import GENETIC_CONSTRAINT from "./GeneticConstraint.gql"; +const useStyles = makeStyles(theme => ({ + filled: { + display: "inline-block", + border: "1px solid black", + backgroundColor: theme.palette.primary.main, + height: "16px", + width: "16px", + borderRadius: "50%", + marginRight: "3px", + }, + notFilled: { + display: "inline-block", + border: "1px solid black", + height: "16px", + width: "16px", + borderRadius: "50%", + marginRight: "3px", + }, + title: { + display: "inline-block", + marginTop: "11px", + }, +})); + +const constraintTypeMap = { + syn: "Synonymous", + mis: "Missense", + lof: "pLoF", +}; + +function ConstraintAssessment({ ensemblId, symbol, upperBin6 }) { + const classes = useStyles(); + const circles = []; + + for (let i = 0; i < 5; i++) { + circles.push( + i ? classes.filled : classes.notFilled} /> + ); + } + + return ( + <> + + Constraint assessment + + +
{circles}
+ + {5 - upperBin6}/5 {upperBin6Map[upperBin6]} + + + ); +} + +function getColumns(ensemblId, symbol) { + return [ + { + id: "constraintType", + label: "Category", + renderCell: ({ constraintType }) => constraintTypeMap[constraintType], + }, + { + id: "exp", + label: "Expected SNVs", + }, + { + id: "obs", + label: "Observed SNVs", + }, + { + id: "metrics", + label: "Constraint metrics", + renderCell: ({ score, oe, oeLower, oeUpper, upperBin6 }) => ( + <> +
+ {upperBin6 === null ? "Z" : "pLI"} = {score} +
+
+ o/e = {oe} ({oeLower} - {oeUpper}) +
+ {upperBin6 === null ? null : ( + + )} + + ), + }, + ]; +} + function Body({ id: ensemblId, label: symbol, entity }) { const variables = { ensemblId }; const request = useQuery(GENETIC_CONSTRAINT, { variables: { ensemblId } }); @@ -15,13 +108,14 @@ function Body({ id: ensemblId, label: symbol, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={({ target }) => ( - ( + )} /> diff --git a/packages/sections/src/target/GeneticConstraint/GeneticConstraintTable.jsx b/packages/sections/src/target/GeneticConstraint/GeneticConstraintTable.jsx deleted file mode 100644 index bf30378c0..000000000 --- a/packages/sections/src/target/GeneticConstraint/GeneticConstraintTable.jsx +++ /dev/null @@ -1,112 +0,0 @@ -import { makeStyles } from "@mui/styles"; -import { Link, Tooltip, OtTable } from "ui"; - -import { defaultRowsPerPageOptions } from "../../constants"; -import upperBin6Map from "./upperBin6Map"; - -const useStyles = makeStyles(theme => ({ - filled: { - display: "inline-block", - border: "1px solid black", - backgroundColor: theme.palette.primary.main, - height: "16px", - width: "16px", - borderRadius: "50%", - marginRight: "3px", - }, - notFilled: { - display: "inline-block", - border: "1px solid black", - height: "16px", - width: "16px", - borderRadius: "50%", - marginRight: "3px", - }, - title: { - display: "inline-block", - marginTop: "11px", - }, -})); - -const constraintTypeMap = { - syn: "Synonymous", - mis: "Missense", - lof: "pLoF", -}; - -function ConstraintAssessment({ ensemblId, symbol, upperBin6 }) { - const classes = useStyles(); - const circles = []; - - for (let i = 0; i < 5; i++) { - circles.push( - i ? classes.filled : classes.notFilled} /> - ); - } - - return ( - <> - - Constraint assessment - - -
{circles}
- - {5 - upperBin6}/5 {upperBin6Map[upperBin6]} - - - ); -} - -function getColumns(ensemblId, symbol) { - return [ - { - id: "constraintType", - label: "Category", - renderCell: ({ constraintType }) => constraintTypeMap[constraintType], - }, - { - id: "exp", - label: "Expected SNVs", - }, - { - id: "obs", - label: "Observed SNVs", - }, - { - id: "metrics", - label: "Constraint metrics", - renderCell: ({ score, oe, oeLower, oeUpper, upperBin6 }) => ( - <> -
- {upperBin6 === null ? "Z" : "pLI"} = {score} -
-
- o/e = {oe} ({oeLower} - {oeUpper}) -
- {upperBin6 === null ? null : ( - - )} - - ), - }, - ]; -} - -function GeneticConstraintTable({ ensemblId, symbol, geneticConstraint, query, variables }) { - return ( - - ); -} - -export default GeneticConstraintTable; diff --git a/packages/sections/src/target/MolecularInteractions/Body.jsx b/packages/sections/src/target/MolecularInteractions/Body.jsx index b39460dc9..1ae3d2a53 100644 --- a/packages/sections/src/target/MolecularInteractions/Body.jsx +++ b/packages/sections/src/target/MolecularInteractions/Body.jsx @@ -90,6 +90,7 @@ function Body({ label: symbol, id, entity }) { definition={definition} request={request} renderDescription={() => } + showContentLoading={true} renderBody={() => ( <> {/* Interaction Resource */} diff --git a/packages/sections/src/target/MousePhenotypes/Body.jsx b/packages/sections/src/target/MousePhenotypes/Body.jsx index 0401dbd5a..cb98eef14 100644 --- a/packages/sections/src/target/MousePhenotypes/Body.jsx +++ b/packages/sections/src/target/MousePhenotypes/Body.jsx @@ -1,11 +1,65 @@ import { useQuery } from "@apollo/client"; -import { SectionItem } from "ui"; +import { Link, TableDrawer, OtTable, SectionItem } from "ui"; import { definition } from "."; import Description from "./Description"; -import PhenotypesTable from "./PhenotypesTable"; - import MOUSE_PHENOTYPES_QUERY from "./MousePhenotypes.gql"; +import AllelicCompositionDrawer from "./AllelicCompositionDrawer"; + +const columns = [ + { + id: "targetInModel", + label: "Mouse gene", + renderCell: ({ targetInModel, targetInModelMgiId }) => ( + + {targetInModel} + + ), + }, + { + id: "modelPhenotypeLabel", + label: "Phenotype", + renderCell: ({ modelPhenotypeLabel, modelPhenotypeId }) => ( + + {modelPhenotypeLabel} + + ), + }, + { + id: "modelPhenotypeClasses", + label: "Category", + filterValue: ({ modelPhenotypeClasses }) => { + if (modelPhenotypeClasses.length === 1) { + return modelPhenotypeClasses[0].label; + } + return "categories"; + }, + renderCell: ({ modelPhenotypeClasses }) => { + const entries = modelPhenotypeClasses.map(phenotypeClass => ({ + name: phenotypeClass.label, + url: `https://identifiers.org/${phenotypeClass.id}`, + group: "Categories", + })); + return ( + + ); + }, + exportValue: ({ modelPhenotypeClasses }) => + modelPhenotypeClasses.map(phenotypeClass => phenotypeClass.label), + }, + { + id: "allelicComposition", + label: "Allelic composition", + renderCell: ({ biologicalModels }) => ( + + ), + exportValue: ({ biologicalModels }) => biologicalModels.map(bm => bm.allelicComposition), + }, +]; function Body({ id, label: symbol, entity }) { const variables = { ensemblId: id }; @@ -19,12 +73,16 @@ function Body({ id, label: symbol, entity }) { entity={entity} request={request} renderDescription={() => } - renderBody={({ target }) => ( - ( + )} /> diff --git a/packages/sections/src/target/MousePhenotypes/PhenotypesTable.jsx b/packages/sections/src/target/MousePhenotypes/PhenotypesTable.jsx deleted file mode 100644 index 7088f8a44..000000000 --- a/packages/sections/src/target/MousePhenotypes/PhenotypesTable.jsx +++ /dev/null @@ -1,76 +0,0 @@ -import { Link, TableDrawer, OtTable } from "ui"; -import { defaultRowsPerPageOptions } from "../../constants"; - -import AllelicCompositionDrawer from "./AllelicCompositionDrawer"; - -const columns = [ - { - id: "targetInModel", - label: "Mouse gene", - renderCell: ({ targetInModel, targetInModelMgiId }) => ( - - {targetInModel} - - ), - }, - { - id: "modelPhenotypeLabel", - label: "Phenotype", - renderCell: ({ modelPhenotypeLabel, modelPhenotypeId }) => ( - - {modelPhenotypeLabel} - - ), - }, - { - id: "modelPhenotypeClasses", - label: "Category", - filterValue: ({ modelPhenotypeClasses }) => { - if (modelPhenotypeClasses.length === 1) { - return modelPhenotypeClasses[0].label; - } - return "categories"; - }, - renderCell: ({ modelPhenotypeClasses }) => { - const entries = modelPhenotypeClasses.map(phenotypeClass => ({ - name: phenotypeClass.label, - url: `https://identifiers.org/${phenotypeClass.id}`, - group: "Categories", - })); - return ( - - ); - }, - exportValue: ({ modelPhenotypeClasses }) => - modelPhenotypeClasses.map(phenotypeClass => phenotypeClass.label), - }, - { - id: "allelicComposition", - label: "Allelic composition", - renderCell: ({ biologicalModels }) => ( - - ), - exportValue: ({ biologicalModels }) => biologicalModels.map(bm => bm.allelicComposition), - }, -]; - -function PhenotypesTable({ mousePhenotypes, query, variables, symbol }) { - return ( - - ); -} - -export default PhenotypesTable; diff --git a/packages/sections/src/target/Pathways/Body.jsx b/packages/sections/src/target/Pathways/Body.jsx index 92a597c50..1076f8528 100644 --- a/packages/sections/src/target/Pathways/Body.jsx +++ b/packages/sections/src/target/Pathways/Body.jsx @@ -1,12 +1,42 @@ import { useQuery } from "@apollo/client"; -import { SectionItem } from "ui"; +import { SectionItem, Link, OtTable } from "ui"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faMapMarker } from "@fortawesome/free-solid-svg-icons"; import { definition } from "."; import Description from "./Description"; -import PathwaysTable from "./PathwaysTable"; - import PATHWAYS_QUERY from "./Pathways.gql"; +import { identifiersOrgLink } from "../../utils/global"; +import { defaultRowsPerPageOptions } from "../../constants"; + +function getColumns(symbol) { + return [ + { + id: "pathway", + label: "Pathway", + renderCell: ({ pathwayId, pathway }) => ( + + {pathway} + + ), + }, + { + id: "topLevelTerm", + label: "Top-level parent pathway", + }, + { + id: "pathwayId", + label: "View target and pathway", + renderCell: ({ pathwayId }) => ( + + Reactome pathway browser + + ), + }, + ]; +} + function Body({ id: ensemblId, label: symbol, entity }) { const variables = { ensemblId }; const request = useQuery(PATHWAYS_QUERY, { @@ -19,12 +49,16 @@ function Body({ id: ensemblId, label: symbol, entity }) { entity={entity} request={request} renderDescription={() => } - renderBody={({ target }) => ( - ( + )} /> diff --git a/packages/sections/src/target/Pathways/PathwaysTable.jsx b/packages/sections/src/target/Pathways/PathwaysTable.jsx deleted file mode 100644 index b322bcb23..000000000 --- a/packages/sections/src/target/Pathways/PathwaysTable.jsx +++ /dev/null @@ -1,49 +0,0 @@ -import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; -import { faMapMarker } from "@fortawesome/free-solid-svg-icons"; -import { Link, OtTable } from "ui"; - -import { identifiersOrgLink } from "../../utils/global"; -import { defaultRowsPerPageOptions } from "../../constants"; - -function getColumns(symbol) { - return [ - { - id: "pathway", - label: "Pathway", - renderCell: ({ pathwayId, pathway }) => ( - - {pathway} - - ), - }, - { - id: "topLevelTerm", - label: "Top-level parent pathway", - }, - { - id: "pathwayId", - label: "View target and pathway", - renderCell: ({ pathwayId }) => ( - - Reactome pathway browser - - ), - }, - ]; -} - -function OverviewTab({ symbol, pathways, query, variables }) { - return ( - - ); -} - -export default OverviewTab; diff --git a/packages/sections/src/target/Pharmacogenomics/Body.jsx b/packages/sections/src/target/Pharmacogenomics/Body.jsx index c4abfffe0..1685948f6 100644 --- a/packages/sections/src/target/Pharmacogenomics/Body.jsx +++ b/packages/sections/src/target/Pharmacogenomics/Body.jsx @@ -1,13 +1,271 @@ import { useQuery } from "@apollo/client"; -import { SectionItem } from "ui"; +import classNames from "classnames"; +import { makeStyles } from "@mui/styles"; +import { SectionItem, Link, Tooltip, LabelChip, PublicationsDrawer, OtTable } from "ui"; + +import { epmcUrl } from "../../utils/urls"; +import { naLabel, PHARM_GKB_COLOR, variantConsequenceSource } from "../../constants"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faCircleCheck } from "@fortawesome/free-solid-svg-icons"; +import { faCircleXmark } from "@fortawesome/free-regular-svg-icons"; +import { Box } from "@mui/material"; import { definition } from "."; import Description from "./Description"; -import PharmacogenomicsTable from "./PharmacogenomicsTable"; - import PHARMACOGENOMICS_QUERY from "./Pharmacogenomics.gql"; +import { identifiersOrgLink, sentenceCase } from "../../utils/global"; + +const useStyles = makeStyles(theme => ({ + level: { + color: "white", + padding: theme.spacing(0.5), + borderRadius: theme.spacing(0.5), + }, + green: { + background: PHARM_GKB_COLOR.green, + }, + red: { + background: PHARM_GKB_COLOR.red, + }, + yellow: { + background: PHARM_GKB_COLOR.yellow, + }, + blue: { + background: theme.palette.primary.main, + }, + blueIcon: { + color: theme.palette.primary.main, + }, +})); + +const getLevelElementClassName = level => { + switch (level) { + case "1": + return "green"; + case "1A": + return "green"; + case "1B": + return "green"; + case "2": + return "blue"; + case "2A": + return "blue"; + case "2B": + return "blue"; + case "3": + return "yellow"; + case "4": + return "red"; + default: + return "red"; + } +}; + +function getColumns(classes) { + return [ + { + id: "variantRsId", + label: "rsID", + renderCell: ({ variantRsId }) => + variantRsId ? ( + + {variantRsId} + + ) : ( + naLabel + ), + }, + { + id: "starAllele", + label: "Star Allele", + renderCell: ({ haplotypeId, haplotypeFromSourceId }) => { + const displayId = haplotypeId || haplotypeFromSourceId || naLabel; + const LinkComponent = haplotypeFromSourceId && ( + + {displayId} + + ); + + return LinkComponent || displayId || naLabel; + }, + }, + { + id: "genotypeId", + label: "Genotype ID", + tooltip: ( + <> + VCF-style(chr_pos_ref_allele1,allele2). See{" "} + + here + {" "} + for more details. + + ), + renderCell: ({ genotypeId }) => genotypeId || naLabel, + }, + { + id: "variantConsequence", + label: "Variant Consequence", + renderCell: ({ variantFunctionalConsequence, genotypeId }) => { + const pvparams = genotypeId?.split(",")[0].split("_") || []; + return ( +
+ {variantFunctionalConsequence ? ( + + ) : ( + naLabel + )} + {(variantFunctionalConsequence?.id === "SO:0001583" || + variantFunctionalConsequence?.id === "SO:0001587") && ( + + )} +
+ ); + }, + filterValue: ({ variantFunctionalConsequence }) => + `${sentenceCase(variantFunctionalConsequence?.label)}`, + }, + { + id: "drug", + label: "Drug(s)", + renderCell: ({ drugs }) => { + if (!drugs || drugs.length <= 0) return naLabel; + + return drugs.map((el, index) => { + if (el.drugId) + return ( + + {index > 0 && ,} + {el.drugFromSource || el.drugId} + + ); + else return el.drugFromSource || el.drugId; + }); + }, + filterValue: ({ drugId, drugFromSource }) => `${drugFromSource} ${drugId}`, + }, + { + id: "drugResponse", + label: "Drug Response Phenotype", + renderCell: ({ phenotypeText = naLabel, phenotypeFromSourceId, genotypeAnnotationText }) => { + let phenotypeTextElement; + + if (phenotypeText) { + phenotypeTextElement = phenotypeText; + } else phenotypeTextElement = naLabel; + + if (phenotypeFromSourceId) + phenotypeTextElement = ( + {phenotypeTextElement} + ); + + if (genotypeAnnotationText) + phenotypeTextElement = ( + + {phenotypeTextElement} + + ); + + return phenotypeTextElement; + }, + filterValue: ({ phenotypeText }) => `${phenotypeText}`, + }, + { + id: "drugResponseCategory", + label: "Drug Response Category", + renderCell: ({ pgxCategory }) => pgxCategory || naLabel, + filterValue: ({ pgxCategory }) => pgxCategory, + }, + { + id: "isDirectTarget", + label: "Direct Drug Target", + renderCell: ({ isDirectTarget }) => { + const ICON_NAME = isDirectTarget ? faCircleCheck : faCircleXmark; + return ; + }, + }, + { + id: "evidenceLevel", + label: "Confidence Level", + comparator: (a, b) => (b.evidenceLevel < a.evidenceLevel ? 1 : -1), + sortable: true, + tooltip: ( + <> + As defined by + + {" "} + PharmGKB ClinAnn Levels + + + ), + renderCell: ({ evidenceLevel }) => { + if (evidenceLevel) { + const levelClass = getLevelElementClassName(evidenceLevel); + return ( + + Level {evidenceLevel} + + ); + } + return naLabel; + }, + filterValue: ({ evidenceLevel }) => `Level ${evidenceLevel}`, + }, + { + id: "source", + label: "Source", + renderCell: ({ studyId }) => + studyId ? ( + + PharmGKB + + ) : ( + naLabel + ), + }, + { + id: "literature", + label: "Literature", + renderCell: ({ literature }) => { + const literatureList = + literature?.reduce((acc, id) => { + if (id === "NA") return acc; + + return [ + ...acc, + { + name: id, + url: epmcUrl(id), + group: "literature", + }, + ]; + }, []) || []; + + return ; + }, + }, + ]; +} + function Body({ id: ensemblId, label: symbol, entity }) { + const classes = useStyles(); + const columns = getColumns(classes); const variables = { ensemblId }; const request = useQuery(PHARMACOGENOMICS_QUERY, { variables, @@ -19,11 +277,16 @@ function Body({ id: ensemblId, label: symbol, entity }) { entity={entity} request={request} renderDescription={() => } - renderBody={({ target }) => ( - ( + )} /> diff --git a/packages/sections/src/target/Pharmacogenomics/PharmacogenomicsTable.jsx b/packages/sections/src/target/Pharmacogenomics/PharmacogenomicsTable.jsx deleted file mode 100644 index a01a1e6d5..000000000 --- a/packages/sections/src/target/Pharmacogenomics/PharmacogenomicsTable.jsx +++ /dev/null @@ -1,278 +0,0 @@ -import classNames from "classnames"; -import { makeStyles } from "@mui/styles"; -import { Link, Tooltip, LabelChip, PublicationsDrawer, OtTable } from "ui"; - -import { epmcUrl } from "../../utils/urls"; -import { - defaultRowsPerPageOptions, - naLabel, - PHARM_GKB_COLOR, - variantConsequenceSource, -} from "../../constants"; -import { identifiersOrgLink, sentenceCase } from "../../utils/global"; -import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; -import { faCircleCheck } from "@fortawesome/free-solid-svg-icons"; -import { faCircleXmark } from "@fortawesome/free-regular-svg-icons"; -import { Box } from "@mui/material"; - -const useStyles = makeStyles(theme => ({ - level: { - color: "white", - padding: theme.spacing(0.5), - borderRadius: theme.spacing(0.5), - }, - green: { - background: PHARM_GKB_COLOR.green, - }, - red: { - background: PHARM_GKB_COLOR.red, - }, - yellow: { - background: PHARM_GKB_COLOR.yellow, - }, - blue: { - background: theme.palette.primary.main, - }, - blueIcon: { - color: theme.palette.primary.main, - }, -})); - -const getLevelElementClassName = level => { - switch (level) { - case "1": - return "green"; - case "1A": - return "green"; - case "1B": - return "green"; - case "2": - return "blue"; - case "2A": - return "blue"; - case "2B": - return "blue"; - case "3": - return "yellow"; - case "4": - return "red"; - default: - return "red"; - } -}; - -function OverviewTab({ pharmacogenomics, query, variables }) { - const classes = useStyles(); - const columns = [ - { - id: "variantRsId", - label: "rsID", - renderCell: ({ variantRsId }) => - variantRsId ? ( - - {variantRsId} - - ) : ( - naLabel - ), - }, - { - id: "starAllele", - label: "Star Allele", - renderCell: ({ haplotypeId, haplotypeFromSourceId }) => { - const displayId = haplotypeId || haplotypeFromSourceId || naLabel; - const LinkComponent = haplotypeFromSourceId && ( - - {displayId} - - ); - - return LinkComponent || displayId || naLabel; - }, - }, - { - id: "genotypeId", - label: "Genotype ID", - tooltip: ( - <> - VCF-style(chr_pos_ref_allele1,allele2). See{" "} - - here - {" "} - for more details. - - ), - renderCell: ({ genotypeId }) => genotypeId || naLabel, - }, - { - id: "variantConsequence", - label: "Variant Consequence", - renderCell: ({ variantFunctionalConsequence, genotypeId }) => { - const pvparams = genotypeId?.split(",")[0].split("_") || []; - return ( -
- {variantFunctionalConsequence ? ( - - ) : ( - naLabel - )} - {(variantFunctionalConsequence?.id === "SO:0001583" || - variantFunctionalConsequence?.id === "SO:0001587") && ( - - )} -
- ); - }, - filterValue: ({ variantFunctionalConsequence }) => - `${sentenceCase(variantFunctionalConsequence?.label)}`, - }, - { - id: "drug", - label: "Drug(s)", - renderCell: ({ drugs }) => { - if (!drugs || drugs.length <= 0) return naLabel; - - return drugs.map((el, index) => { - if (el.drugId) - return ( - - {index > 0 && ,} - {el.drugFromSource || el.drugId} - - ); - else return el.drugFromSource || el.drugId; - }); - }, - filterValue: ({ drugId, drugFromSource }) => `${drugFromSource} ${drugId}`, - }, - { - id: "drugResponse", - label: "Drug Response Phenotype", - renderCell: ({ phenotypeText = naLabel, phenotypeFromSourceId, genotypeAnnotationText }) => { - let phenotypeTextElement; - - if (phenotypeText) { - phenotypeTextElement = phenotypeText; - } else phenotypeTextElement = naLabel; - - if (phenotypeFromSourceId) - phenotypeTextElement = ( - {phenotypeTextElement} - ); - - if (genotypeAnnotationText) - phenotypeTextElement = ( - - {phenotypeTextElement} - - ); - - return phenotypeTextElement; - }, - filterValue: ({ phenotypeText }) => `${phenotypeText}`, - }, - { - id: "drugResponseCategory", - label: "Drug Response Category", - renderCell: ({ pgxCategory }) => pgxCategory || naLabel, - filterValue: ({ pgxCategory }) => pgxCategory, - }, - { - id: "isDirectTarget", - label: "Direct Drug Target", - renderCell: ({ isDirectTarget }) => { - const ICON_NAME = isDirectTarget ? faCircleCheck : faCircleXmark; - return ; - }, - }, - { - id: "confidenceLevel", - label: "Confidence Level", - comparator: (a, b) => (b.evidenceLevel < a.evidenceLevel ? 1 : -1), - sortable: true, - tooltip: ( - <> - As defined by - - {" "} - PharmGKB ClinAnn Levels - - - ), - renderCell: ({ evidenceLevel }) => { - if (evidenceLevel) { - const levelClass = getLevelElementClassName(evidenceLevel); - return ( - - Level {evidenceLevel} - - ); - } - return naLabel; - }, - filterValue: ({ evidenceLevel }) => `Level ${evidenceLevel}`, - }, - { - id: "source", - label: "Source", - renderCell: ({ studyId }) => - studyId ? ( - - PharmGKB - - ) : ( - naLabel - ), - }, - { - id: "literature", - label: "Literature", - renderCell: ({ literature }) => { - const literatureList = - literature?.reduce((acc, id) => { - if (id === "NA") return acc; - - return [ - ...acc, - { - name: id, - url: epmcUrl(id), - group: "literature", - }, - ]; - }, []) || []; - - return ; - }, - }, - ]; - return ( - - ); -} - -export default OverviewTab; diff --git a/packages/sections/src/target/ProtVista/Body.jsx b/packages/sections/src/target/ProtVista/Body.jsx index 1d915d4e2..7db2f4193 100644 --- a/packages/sections/src/target/ProtVista/Body.jsx +++ b/packages/sections/src/target/ProtVista/Body.jsx @@ -16,9 +16,9 @@ function Body({ label: symbol, entity }) { entity={entity} request={{ ...request, data: { [entity]: request.data } }} renderDescription={() => } - renderBody={data => { - const uniprotId = getUniprotIds(data[entity].proteinIds)[0]; - + showContentLoading={true} + renderBody={() => { + const uniprotId = getUniprotIds(request.data?.proteinIds)[0]; return ; }} /> diff --git a/packages/sections/src/target/Safety/Body.jsx b/packages/sections/src/target/Safety/Body.jsx index 51a99a0cc..00120bcf2 100644 --- a/packages/sections/src/target/Safety/Body.jsx +++ b/packages/sections/src/target/Safety/Body.jsx @@ -1,12 +1,146 @@ -import { SectionItem } from "ui"; import { useQuery } from "@apollo/client"; +import { SectionItem, Link, Tooltip, PublicationsDrawer, TableDrawer, OtTable } from "ui"; +import { makeStyles } from "@mui/styles"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faArrowAltCircleDown, faArrowAltCircleUp } from "@fortawesome/free-solid-svg-icons"; + +import SafetyStudiesDrawer from "./SafetyStudiesDrawer"; +import { naLabel, defaultRowsPerPageOptions } from "../../constants"; + import { definition } from "."; import Description from "./Description"; -import SafetyTable from "./SafetyTable"; import SAFETY_QUERY from "./Safety.gql"; +const useStyles = makeStyles(theme => ({ + blue: { + color: theme.palette.primary.main, + }, + grey: { + color: theme.palette.grey[300], + }, + direction: { + marginBottom: "7px", + }, + circleUp: { + marginRight: "10px", + }, +})); + +function EffectTooltipContent({ classes, effect }) { + return ( + <> + Direction: +
{effect.direction}
+ Dosing: +
{effect.dosing}
+ + ); +} + +function getColumns(classes) { + return [ + { + id: "event", + label: "Safety event", + renderCell: ({ event, eventId }) => + eventId ? {event ?? naLabel} : event ?? naLabel, + }, + { + id: "biosamples", + label: "Biosystems", + filterValue: ({ biosamples }) => { + if (biosamples?.length === 1) { + const sample = biosamples[0]; + return `${sample.cellFormat} ${sample.cellLabel} ${sample.tissueLabel}`.trim(); + } + return "biosamples"; + }, + renderCell: ({ biosamples }) => { + /* TODO: remove to handle only arrays */ + if (!biosamples) return "N/A"; + const entries = biosamples.map(({ cellFormat, cellLabel, tissueLabel, tissueId }) => ({ + name: cellFormat ? `${cellFormat}${cellLabel ? ` (${cellLabel})` : ""}` : tissueLabel, + url: + cellFormat || !tissueId + ? null + : `https://identifiers.org/${tissueId.replace("_", ":")}`, + group: cellFormat ? "Assay" : "Organ system", + })); + + return ( + + ); + }, + }, + { + id: "dosing", + label: "Dosing effects", + renderCell: ({ effects }) => { + const circleUpData = effects + ? effects.find(effect => effect.direction === "Activation/Increase/Upregulation") + : null; + const circleDownData = effects + ? effects.find(effect => effect.direction === "Inhibition/Decrease/Downregulation") + : null; + return ( + <> + {circleUpData ? ( + }> + + + + + ) : ( + + )} + {circleDownData ? ( + }> + + + + + ) : ( + + )} + + ); + }, + }, + { + id: "studies", + label: "Experimental studies", + renderCell: ({ studies }) => { + /* TODO: remove to handle only arrays */ + if (!studies) return "N/A"; + return ; + }, + }, + { + id: "datasource", + label: "Source", + renderCell: ({ datasource, literature, url }) => + literature ? ( + + ) : ( + + {datasource} + + ), + }, + ]; +} + function Body({ id: ensemblId, label: symbol, entity }) { + const classes = useStyles(); const variables = { ensemblId }; const request = useQuery(SAFETY_QUERY, { variables }); return ( @@ -15,11 +149,16 @@ function Body({ id: ensemblId, label: symbol, entity }) { request={request} renderDescription={() => } entity={entity} - renderBody={data => ( - ( + )} /> diff --git a/packages/sections/src/target/Safety/SafetyTable.jsx b/packages/sections/src/target/Safety/SafetyTable.jsx deleted file mode 100644 index 779a4194e..000000000 --- a/packages/sections/src/target/Safety/SafetyTable.jsx +++ /dev/null @@ -1,151 +0,0 @@ -import { Link, Tooltip, PublicationsDrawer, TableDrawer, OtTable } from "ui"; -import { makeStyles } from "@mui/styles"; -import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; -import { faArrowAltCircleDown, faArrowAltCircleUp } from "@fortawesome/free-solid-svg-icons"; - -import SafetyStudiesDrawer from "./SafetyStudiesDrawer"; -import { naLabel, defaultRowsPerPageOptions } from "../../constants"; - -const useStyles = makeStyles(theme => ({ - blue: { - color: theme.palette.primary.main, - }, - grey: { - color: theme.palette.grey[300], - }, - direction: { - marginBottom: "7px", - }, - circleUp: { - marginRight: "10px", - }, -})); - -function EffectTooltipContent({ classes, effect }) { - return ( - <> - Direction: -
{effect.direction}
- Dosing: -
{effect.dosing}
- - ); -} - -function getColumns(classes) { - return [ - { - id: "event", - label: "Safety event", - renderCell: ({ event, eventId }) => - eventId ? {event ?? naLabel} : event ?? naLabel, - }, - { - id: "biosamples", - label: "Biosystems", - filterValue: ({ biosamples }) => { - if (biosamples?.length === 1) { - const sample = biosamples[0]; - return `${sample.cellFormat} ${sample.cellLabel} ${sample.tissueLabel}`.trim(); - } - return "biosamples"; - }, - renderCell: ({ biosamples }) => { - /* TODO: remove to handle only arrays */ - if (!biosamples) return "N/A"; - const entries = biosamples.map(({ cellFormat, cellLabel, tissueLabel, tissueId }) => ({ - name: cellFormat ? `${cellFormat}${cellLabel ? ` (${cellLabel})` : ""}` : tissueLabel, - url: - cellFormat || !tissueId - ? null - : `https://identifiers.org/${tissueId.replace("_", ":")}`, - group: cellFormat ? "Assay" : "Organ system", - })); - - return ( - - ); - }, - }, - { - id: "dosing", - label: "Dosing effects", - renderCell: ({ effects }) => { - const circleUpData = effects - ? effects.find(effect => effect.direction === "Activation/Increase/Upregulation") - : null; - const circleDownData = effects - ? effects.find(effect => effect.direction === "Inhibition/Decrease/Downregulation") - : null; - return ( - <> - {circleUpData ? ( - }> - - - - - ) : ( - - )} - {circleDownData ? ( - }> - - - - - ) : ( - - )} - - ); - }, - }, - { - id: "studies", - label: "Experimental studies", - renderCell: ({ studies }) => { - /* TODO: remove to handle only arrays */ - if (!studies) return "N/A"; - return ; - }, - }, - { - id: "datasource", - label: "Source", - renderCell: ({ datasource, literature, url }) => - literature ? ( - - ) : ( - - {datasource} - - ), - }, - ]; -} - -function SafetyTable({ safetyLiabilities, query, variables }) { - const classes = useStyles(); - return ( - - ); -} - -export default SafetyTable; diff --git a/packages/sections/src/target/SubcellularLocation/Body.jsx b/packages/sections/src/target/SubcellularLocation/Body.jsx index 39a728694..d4c138462 100644 --- a/packages/sections/src/target/SubcellularLocation/Body.jsx +++ b/packages/sections/src/target/SubcellularLocation/Body.jsx @@ -17,7 +17,8 @@ function Body({ id: ensemblId, label: symbol, entity }) { definition={definition} request={request} renderDescription={() => } - renderBody={({ target }) => } + showContentLoading={true} + renderBody={() => } /> ); } diff --git a/packages/sections/src/target/Tractability/Body.jsx b/packages/sections/src/target/Tractability/Body.jsx index bcf0f42b3..a4a399b3f 100644 --- a/packages/sections/src/target/Tractability/Body.jsx +++ b/packages/sections/src/target/Tractability/Body.jsx @@ -98,14 +98,15 @@ function Body({ label: symbol, id: ensemblId, entity }) { request={request} entity={entity} renderDescription={() => } - renderBody={data => ( + showContentLoading={true} + renderBody={() => ( {modalities.map(m => ( {m.label} - + ))} diff --git a/packages/ui/src/components/OtTable/OtTable.tsx b/packages/ui/src/components/OtTable/OtTable.tsx index eefd33620..afef5aa41 100644 --- a/packages/ui/src/components/OtTable/OtTable.tsx +++ b/packages/ui/src/components/OtTable/OtTable.tsx @@ -1,5 +1,5 @@ -import { ReactElement, useState } from "react"; -import { Box, CircularProgress, Grid, IconButton, NativeSelect } from "@mui/material"; +import { ReactElement, ReactNode, useState } from "react"; +import { Box, CircularProgress, Grid, IconButton, NativeSelect, Skeleton } from "@mui/material"; import { useReactTable, ColumnFiltersState, @@ -41,6 +41,7 @@ import { getCurrentPagePosition, getDefaultSortObj, getFilterValueFromObject, + getLoadingRows, mapTableColumnToTanstackColumns, } from "./tableUtil"; import Tooltip from "../Tooltip"; @@ -74,7 +75,6 @@ const searchFilter: FilterFn = (row, columnId, value, addMeta) => { /************ * WIDTH * * minWidth - * numeric ************/ function OtTable({ @@ -91,14 +91,17 @@ function OtTable({ query, variables, showColumnVisibilityControl = true, + loading, }: OtTableProps): ReactElement { const [globalFilter, setGlobalFilter] = useState(""); const [columnFilters, setColumnFilters] = useState([]); const mappedColumns = mapTableColumnToTanstackColumns(columns); + const data = loading ? getLoadingRows(mappedColumns, 10) : rows; + const table = useReactTable({ - data: rows, + data, columns: mappedColumns, filterFns: { searchFilterFn: searchFilter, @@ -108,7 +111,7 @@ function OtTable({ globalFilter, }, initialState: { - sorting: [getDefaultSortObj(sortBy, order)], + sorting: getDefaultSortObj(sortBy, order), }, onColumnFiltersChange: setColumnFilters, onGlobalFilterChange: setGlobalFilter, @@ -120,6 +123,11 @@ function OtTable({ getFacetedUniqueValues: getFacetedUniqueValues(), }); + function getCellData(cell: ReactNode): ReactNode { + if (loading) return ; + return <>{cell}; + } + return (
{/* Global Search */} @@ -165,7 +173,6 @@ function OtTable({ header.column.columnDef.verticalHeader || verticalHeaders } onClick={header.column.getToggleSortingHandler()} - // sx={{ typography: "subtitle2" }} > - {flexRender(cell.column.columnDef.cell, cell.getContext())} + {getCellData(flexRender(cell.column.columnDef.cell, cell.getContext()))} + {/* {flexRender(cell.column.columnDef.cell, cell.getContext())} */} {/* TODO: check NA value */} {/* {Boolean(flexRender(cell.column.columnDef.cell, cell.getContext())) || naLabel} */} @@ -220,6 +228,13 @@ function OtTable({ + + {/* + ************************ + * TABLE FOOTER ACTIONS * + ************************ + */} +
- {/* - ************************ - * TABLE FOOTER ACTIONS * - ************************ - */} - ({ })); export const OtTableHeader = styled("div", { - shouldForwardProp: prop => prop !== "canBeSorted", + shouldForwardProp: prop => prop !== "canBeSorted" && prop !== "numeric", })(({ theme, canBeSorted, numeric }) => theme.unstable_sx({ display: "flex", diff --git a/packages/ui/src/components/OtTable/table.types.ts b/packages/ui/src/components/OtTable/table.types.ts index 5d853c425..9c706c9d5 100644 --- a/packages/ui/src/components/OtTable/table.types.ts +++ b/packages/ui/src/components/OtTable/table.types.ts @@ -5,10 +5,14 @@ import { ColumnDef, Table } from "@tanstack/table-core"; * OT TABLE CLIENT SIDE TYPES * ******************************/ -export type DefaultSortProp = { - id: string; - desc: boolean; -}; +export type DefaultSortProp = + | [ + { + id: string; + desc: boolean; + } + ] + | undefined; export type OtTableProps = { showGlobalFilter: boolean; @@ -25,6 +29,11 @@ export type OtTableProps = { query: DocumentNode; variables: Record; showColumnVisibilityControl: boolean; + loading: boolean; +}; + +export type loadingTableRows = { + id: string; }; /************************* diff --git a/packages/ui/src/components/OtTable/tableUtil.ts b/packages/ui/src/components/OtTable/tableUtil.ts index cfe600ade..33905533d 100644 --- a/packages/ui/src/components/OtTable/tableUtil.ts +++ b/packages/ui/src/components/OtTable/tableUtil.ts @@ -1,4 +1,4 @@ -import { DefaultSortProp } from "./table.types"; +import { DefaultSortProp, loadingTableRows } from "./table.types"; /********************************************************************* * FN TO CONVERT CLASSIC MUI TABLE COLUMNS TO TANSTACK TABLE COLUMNS * @@ -35,10 +35,13 @@ export function getFilterValueFromObject(obj: Record): string { * @return: { id: "pValue", desc: false}: type DefaultSortProp **********************************************************/ export function getDefaultSortObj(sortBy: string, order: string): DefaultSortProp { - return { - id: sortBy, - desc: order === "desc", - }; + if (!sortBy) return undefined; + return [ + { + id: sortBy, + desc: order === "desc", + }, + ]; } /***************************************************** @@ -87,6 +90,13 @@ export function getCurrentPagePosition( return `${currentPageStartRange} - ${pageEndResultSize} of ${totalRows}`; } +export function getLoadingRows(columns, size = 10): loadingTableRows[] { + const rowObject = columns.map(e => ({ + [e.id]: null, + })); + return new Array(size).fill(rowObject); +} + /**************************************************************************** * FN TO MAP EACH KEY FROM CLASSIC MUI COLUMN OBJECT TO NEW TANSTACK COLUMN * ****************************************************************************/ diff --git a/packages/ui/src/components/Section/SectionContainer.jsx b/packages/ui/src/components/Section/SectionContainer.tsx similarity index 54% rename from packages/ui/src/components/Section/SectionContainer.jsx rename to packages/ui/src/components/Section/SectionContainer.tsx index 8a2e713ca..500c48878 100644 --- a/packages/ui/src/components/Section/SectionContainer.jsx +++ b/packages/ui/src/components/Section/SectionContainer.tsx @@ -1,6 +1,11 @@ import { Grid } from "@mui/material"; +import { ReactNode } from "react"; -function SectionContainer({ children }) { +type SectionContainerProps = { + children: ReactNode; +}; + +function SectionContainer({ children }: SectionContainerProps): ReactNode { return ( {children} diff --git a/packages/ui/src/components/Section/SectionError.jsx b/packages/ui/src/components/Section/SectionError.tsx similarity index 53% rename from packages/ui/src/components/Section/SectionError.jsx rename to packages/ui/src/components/Section/SectionError.tsx index 4119e0705..0e474d615 100644 --- a/packages/ui/src/components/Section/SectionError.jsx +++ b/packages/ui/src/components/Section/SectionError.tsx @@ -1,6 +1,11 @@ import { Typography } from "@mui/material"; +import { ReactNode } from "react"; -function SectionError({ message }) { +type SectionErrorProps = { + message: string; +}; + +function SectionError({ message }: SectionErrorProps): ReactNode { return ( {message} diff --git a/packages/ui/src/components/Section/SectionItem.tsx b/packages/ui/src/components/Section/SectionItem.tsx index b18ddc756..6cc60a4b7 100644 --- a/packages/ui/src/components/Section/SectionItem.tsx +++ b/packages/ui/src/components/Section/SectionItem.tsx @@ -7,6 +7,7 @@ import { Divider, Grid, LinearProgress, + Skeleton, Typography, } from "@mui/material"; import { Element } from "react-scroll"; @@ -31,9 +32,9 @@ type definitionType = { type SectionItemProps = { definition: definitionType; request: Record; - renderDescription: (data: any) => void; - renderChart: (data: any) => void | null; - renderBody: (data: any) => void; + renderDescription: () => ReactNode; + renderChart?: () => ReactNode; + renderBody: () => ReactNode; // check tags tags: string[]; chipText: string; @@ -69,9 +70,14 @@ function SectionItem({ if (!hasData && !showEmptySection && !loading) return null; - function getSelectedView() { - if (selectedView === VIEW.table) return renderBody(data); - return renderChart(data); + function getSelectedView(): ReactNode { + if (error) return ; + if (showContentLoading && loading) + return ; + if (selectedView === VIEW.table) return renderBody(); + if (selectedView === VIEW.chart) return renderChart(); + // if (!loading && !hasData && showEmptySection) + return
No data available for this {entity}.
; } return ( @@ -110,7 +116,7 @@ function SectionItem({ })} variant="body2" > - {renderDescription(data)} + {renderDescription()}
{/* CHART VIEW SWITCH */} @@ -121,19 +127,7 @@ function SectionItem({ - - {loading && ( - - )} - {error && } - {!loading && hasData && getSelectedView()} - {!loading && !hasData && showEmptySection && ( -
No data available for this {entity}.
- )} -
+ {getSelectedView()} diff --git a/packages/ui/src/components/Section/SectionLoader.tsx b/packages/ui/src/components/Section/SectionLoader.tsx index 4b31d8225..51626ace1 100644 --- a/packages/ui/src/components/Section/SectionLoader.tsx +++ b/packages/ui/src/components/Section/SectionLoader.tsx @@ -1,4 +1,4 @@ -import { Skeleton } from "@mui/material"; +import { Box, Card, CardContent, Divider, Grid, Skeleton } from "@mui/material"; import { v1 } from "uuid"; type SectionContainerLoaderProps = { @@ -8,6 +8,24 @@ type SectionContainerLoaderProps = { function SectionLoader({ sectionsCount = 1 }: SectionContainerLoaderProps) { const loadingSections = Array.from(Array(sectionsCount)); - return loadingSections.map((_, i) => ); + return loadingSections.map((_, i) => ( + +
+ + + + + + + + + + + + + +
+
+ )); } export default SectionLoader; From 364cd720504a7b4c45d3c805abc94043559d600c Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Wed, 6 Nov 2024 15:43:54 +0000 Subject: [PATCH 013/120] [Platform]: fix data prop in table (#520) --- packages/sections/src/drug/AdverseEvents/Body.jsx | 2 +- .../sections/src/drug/MechanismsOfAction/Body.jsx | 4 ++-- packages/ui/src/components/OtTable/OtTable.tsx | 13 +++++++++---- packages/ui/src/components/OtTable/tableUtil.ts | 11 ++++++++--- packages/ui/src/components/Section/SectionItem.tsx | 12 +----------- 5 files changed, 21 insertions(+), 21 deletions(-) diff --git a/packages/sections/src/drug/AdverseEvents/Body.jsx b/packages/sections/src/drug/AdverseEvents/Body.jsx index c5fb26605..ec67c13a7 100644 --- a/packages/sections/src/drug/AdverseEvents/Body.jsx +++ b/packages/sections/src/drug/AdverseEvents/Body.jsx @@ -112,7 +112,7 @@ function Body({ id: chemblId, label: name, entity }) { entity={entity} showContentLoading={true} renderDescription={() => } - renderBody={res => { + renderBody={() => { // TODO: Change GraphQL schema to have a maxLlr field instead of having // to get the first item of adverse events to get the largest llr since // items are sorted in decreasing llr order. diff --git a/packages/sections/src/drug/MechanismsOfAction/Body.jsx b/packages/sections/src/drug/MechanismsOfAction/Body.jsx index 909d3e61a..dc86f6688 100644 --- a/packages/sections/src/drug/MechanismsOfAction/Body.jsx +++ b/packages/sections/src/drug/MechanismsOfAction/Body.jsx @@ -71,8 +71,8 @@ function Body({ id: chemblId, label: name, entity }) { renderDescription={() => ( )} renderBody={() => { diff --git a/packages/ui/src/components/OtTable/OtTable.tsx b/packages/ui/src/components/OtTable/OtTable.tsx index afef5aa41..ade34b5bb 100644 --- a/packages/ui/src/components/OtTable/OtTable.tsx +++ b/packages/ui/src/components/OtTable/OtTable.tsx @@ -1,4 +1,4 @@ -import { ReactElement, ReactNode, useState } from "react"; +import { ReactElement, ReactNode, useEffect, useState } from "react"; import { Box, CircularProgress, Grid, IconButton, NativeSelect, Skeleton } from "@mui/material"; import { useReactTable, @@ -26,7 +26,7 @@ import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; import OtTableColumnFilter from "./OtTableColumnFilter"; // import { naLabel } from "../../constants"; import OtTableSearch from "./OtTableSearch"; -import { OtTableProps } from "./table.types"; +import { loadingTableRows, OtTableProps } from "./table.types"; import { FontAwesomeIconPadded, OtTableContainer, @@ -95,10 +95,10 @@ function OtTable({ }: OtTableProps): ReactElement { const [globalFilter, setGlobalFilter] = useState(""); const [columnFilters, setColumnFilters] = useState([]); + const [data, setData] = useState[] | loadingTableRows[]>([]); const mappedColumns = mapTableColumnToTanstackColumns(columns); - - const data = loading ? getLoadingRows(mappedColumns, 10) : rows; + const loadingRows = getLoadingRows(mappedColumns, 10); const table = useReactTable({ data, @@ -128,6 +128,11 @@ function OtTable({ return <>{cell}; } + useEffect(() => { + const displayRows = loading ? loadingRows : rows; + setData(displayRows); + }, [loading]); + return (
{/* Global Search */} diff --git a/packages/ui/src/components/OtTable/tableUtil.ts b/packages/ui/src/components/OtTable/tableUtil.ts index 33905533d..ca552c7df 100644 --- a/packages/ui/src/components/OtTable/tableUtil.ts +++ b/packages/ui/src/components/OtTable/tableUtil.ts @@ -90,10 +90,15 @@ export function getCurrentPagePosition( return `${currentPageStartRange} - ${pageEndResultSize} of ${totalRows}`; } +/***************************************************************** + * CREATES EMPTY ROWS WITH COLUMN OBJECT TO IMITATE LOADING ROWS * + *****************************************************************/ export function getLoadingRows(columns, size = 10): loadingTableRows[] { - const rowObject = columns.map(e => ({ - [e.id]: null, - })); + const rowObject: Record = {}; + for (const e in columns) { + const item = columns[e].id; + rowObject[item] = null; + } return new Array(size).fill(rowObject); } diff --git a/packages/ui/src/components/Section/SectionItem.tsx b/packages/ui/src/components/Section/SectionItem.tsx index 6cc60a4b7..a62f360f2 100644 --- a/packages/ui/src/components/Section/SectionItem.tsx +++ b/packages/ui/src/components/Section/SectionItem.tsx @@ -1,15 +1,5 @@ import classNames from "classnames"; -import { - Avatar, - Box, - Card, - CardContent, - Divider, - Grid, - LinearProgress, - Skeleton, - Typography, -} from "@mui/material"; +import { Avatar, Box, Card, CardContent, Divider, Grid, Skeleton, Typography } from "@mui/material"; import { Element } from "react-scroll"; import ErrorBoundary from "../ErrorBoundary"; From 9062be4aa11d0d541ed7c60143a66402c9acc22f Mon Sep 17 00:00:00 2001 From: Graham McNeill Date: Wed, 6 Nov 2024 15:58:00 +0000 Subject: [PATCH 014/120] [Platform] Integrate genetics into platform (#509) Co-authored-by: Carlos Cruz Co-authored-by: Chintan Mehta --- apps/platform/.env | 2 +- apps/platform/public/data/variant-data-1.json | 404 --------- apps/platform/public/data/variant-data-2.json | 792 ------------------ apps/platform/src/App.tsx | 10 +- apps/platform/src/client.js | 6 + .../src/components/Search/SearchQuery.gql | 28 +- .../pages/CredibleSetPage/CredibleSetPage.gql | 12 + .../pages/CredibleSetPage/CredibleSetPage.tsx | 75 ++ .../src/pages/CredibleSetPage/Header.tsx | 50 ++ .../src/pages/CredibleSetPage/Profile.tsx | 93 ++ .../pages/CredibleSetPage/ProfileHeader.gql | 47 ++ .../pages/CredibleSetPage/ProfileHeader.tsx | 222 +++++ .../src/pages/CredibleSetPage/index.ts | 1 + .../src/pages/DiseasePage/Profile.jsx | 16 +- apps/platform/src/pages/HomePage/HomePage.jsx | 19 +- .../src/pages/HomePage/PPHomePage.jsx | 9 + .../src/pages/HomePage/searchExamples.ts | 17 +- .../src/pages/SearchPage/SearchContainer.jsx | 25 +- .../src/pages/SearchPage/SearchPageQuery.gql | 18 + .../src/pages/SearchPage/VariantDetail.jsx | 78 ++ .../src/pages/SearchPage/VariantResult.jsx | 45 + apps/platform/src/pages/StudyPage/Header.tsx | 99 +++ apps/platform/src/pages/StudyPage/Profile.tsx | 110 +++ .../src/pages/StudyPage/ProfileHeader.gql | 27 + .../src/pages/StudyPage/ProfileHeader.tsx | 186 ++++ .../src/pages/StudyPage/StudyPage.gql | 17 + .../src/pages/StudyPage/StudyPage.tsx | 80 ++ apps/platform/src/pages/StudyPage/index.ts | 1 + .../platform/src/pages/VariantPage/Header.tsx | 102 ++- .../src/pages/VariantPage/Profile.tsx | 119 +++ .../src/pages/VariantPage/ProfileHeader.gql | 14 + .../src/pages/VariantPage/ProfileHeader.tsx | 171 ++++ .../src/pages/VariantPage/VariantPage.gql | 13 + .../src/pages/VariantPage/VariantPage.tsx | 60 +- apps/platform/src/pages/VariantPage/index.js | 2 - apps/platform/src/pages/VariantPage/index.ts | 1 + apps/platform/src/pages/VariantPage/types.ts | 165 +++- apps/platform/src/possibleTypes.json | 2 +- apps/platform/src/sections/variantSections.js | 7 + apps/platform/src/utils/global.js | 24 +- .../src/credibleSet/GWASColoc/Body.tsx | 193 +++++ .../src/credibleSet/GWASColoc/Description.tsx | 14 + .../credibleSet/GWASColoc/GWASColocQuery.gql | 29 + .../GWASColoc/GWASColocSummaryFragment.gql | 5 + .../src/credibleSet/GWASColoc/Summary.tsx | 16 + .../src/credibleSet/GWASColoc/index.ts | 7 + .../src/credibleSet/Variants/Body.tsx | 193 +++++ .../src/credibleSet/Variants/Description.tsx | 14 + .../src/credibleSet/Variants/Summary.tsx | 16 + .../credibleSet/Variants/VariantsQuery.gql | 21 + .../Variants/VariantsSummaryFragment.gql | 5 + .../src/credibleSet/Variants/index.ts | 7 + .../sections/src/disease/GWASStudies/Body.tsx | 143 ++++ .../src/disease/GWASStudies/Description.tsx | 19 + .../disease/GWASStudies/GWASStudiesQuery.gql | 17 + .../src/disease/GWASStudies/Summary.tsx | 11 + .../sections/src/disease/GWASStudies/index.ts | 9 + .../src/study/GWASCredibleSets/Body.tsx | 147 ++++ .../study/GWASCredibleSets/Description.tsx | 19 + .../GWASCredibleSetsQuery.gql | 29 + .../GWASCredibleSetsSummaryFragment.gql | 5 + .../src/study/GWASCredibleSets/Summary.tsx | 16 + .../src/study/GWASCredibleSets/index.ts | 8 + .../src/study/QTLCredibleSets/Body.tsx | 122 +++ .../src/study/QTLCredibleSets/Description.tsx | 19 + .../QTLCredibleSets/QTLCredibleSetsQuery.gql | 22 + .../QTLCredibleSetsSummaryFragment.gql | 5 + .../src/study/QTLCredibleSets/Summary.tsx | 16 + .../src/study/QTLCredibleSets/index.ts | 8 + .../src/study/SharedTraitStudies/Body.tsx | 188 +++++ .../study/SharedTraitStudies/Description.tsx | 24 + .../SharedTraitStudiesQuery.gql | 21 + .../src/study/SharedTraitStudies/Summary.tsx | 11 + .../src/study/SharedTraitStudies/index.ts | 14 + packages/sections/src/utils/comparators.js | 37 - packages/sections/src/utils/comparators.ts | 83 ++ .../sections/src/utils/getStudyCategory.ts | 7 + packages/sections/src/variant/EVA/Body.tsx | 192 +++++ .../sections/src/variant/EVA/Description.tsx | 28 + .../sections/src/variant/EVA/EVAQuery.gql | 24 + .../src/variant/EVA/EVASummaryFragment.gql | 5 + packages/sections/src/variant/EVA/Summary.tsx | 18 + packages/sections/src/variant/EVA/index.ts | 10 + .../src/variant/GWASCredibleSets/Body.tsx | 275 ++++++ .../variant/GWASCredibleSets/Description.tsx | 28 + .../GWASCredibleSetsQuery.gql | 43 + .../GWASCredibleSetsSummaryFragment.gql | 8 + .../src/variant/GWASCredibleSets/Summary.tsx | 16 + .../src/variant/GWASCredibleSets/index.ts | 8 + .../src/variant/InSilicoPredictors/Body.tsx | 88 ++ .../InSilicoPredictors/Description.tsx | 32 + .../InSilicoPredictorsQuery.gql | 13 + .../InSilicoPredictorsSummaryFragment.gql | 5 + .../variant/InSilicoPredictors/Summary.tsx | 16 + .../src/variant/InSilicoPredictors/index.ts | 7 + .../src/variant/Pharmacogenomics/Body.tsx | 235 ++++++ .../variant/Pharmacogenomics/Description.tsx | 29 + .../PharmacogenomicsQuery.gql | 22 + .../PharmacogenomicsSummaryFragment.gql | 5 + .../src/variant/Pharmacogenomics/Summary.tsx | 18 + .../src/variant/Pharmacogenomics/index.ts | 6 + .../src/variant/QTLCredibleSets/Body.tsx | 238 ++++++ .../variant/QTLCredibleSets/Description.tsx | 28 + .../QTLCredibleSets/QTLCredibleSetsQuery.gql | 41 + .../QTLCredibleSetsSummaryFragment.gql | 8 + .../src/variant/QTLCredibleSets/Summary.tsx | 16 + .../src/variant/QTLCredibleSets/index.ts | 8 + .../src/variant/UniProtVariants/Body.tsx | 110 +++ .../variant/UniProtVariants/Description.tsx | 35 + .../src/variant/UniProtVariants/Summary.tsx | 18 + .../UniProtVariants/UniProtVariantsQuery.gql | 20 + .../UniProtVariantsSummaryFragment.gql | 5 + .../src/variant/UniProtVariants/index.ts | 10 + .../variant/VariantEffectPredictor/Body.tsx | 152 ++++ .../VariantEffectPredictor/Description.tsx | 27 + .../VariantEffectPredictor/Summary.tsx | 19 + .../VariantEffectPredictorQuery.gql | 29 + .../VariantEffectPredictorSummaryFragment.gql | 5 + .../variant/VariantEffectPredictor/index.ts | 7 + .../ui/src/components/DisplayVariantId.tsx | 228 +++++ .../src/components/ExternalLink/XRefLinks.tsx | 13 +- .../GlobalSearch/GlobalSearchListHeader.jsx | 2 + .../GlobalSearch/GlobalSearchListItem.jsx | 91 +- .../ui/src/components/Section/SectionItem.tsx | 2 +- packages/ui/src/components/Summary/utils.js | 9 +- .../ui/src/contexts/PlatformApiProvider.jsx | 1 + packages/ui/src/hooks/useListOption.js | 6 +- packages/ui/src/index.tsx | 1 + 128 files changed, 5603 insertions(+), 1346 deletions(-) delete mode 100644 apps/platform/public/data/variant-data-1.json delete mode 100644 apps/platform/public/data/variant-data-2.json create mode 100644 apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql create mode 100644 apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx create mode 100644 apps/platform/src/pages/CredibleSetPage/Header.tsx create mode 100644 apps/platform/src/pages/CredibleSetPage/Profile.tsx create mode 100644 apps/platform/src/pages/CredibleSetPage/ProfileHeader.gql create mode 100644 apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx create mode 100644 apps/platform/src/pages/CredibleSetPage/index.ts create mode 100644 apps/platform/src/pages/SearchPage/VariantDetail.jsx create mode 100644 apps/platform/src/pages/SearchPage/VariantResult.jsx create mode 100644 apps/platform/src/pages/StudyPage/Header.tsx create mode 100644 apps/platform/src/pages/StudyPage/Profile.tsx create mode 100644 apps/platform/src/pages/StudyPage/ProfileHeader.gql create mode 100644 apps/platform/src/pages/StudyPage/ProfileHeader.tsx create mode 100644 apps/platform/src/pages/StudyPage/StudyPage.gql create mode 100644 apps/platform/src/pages/StudyPage/StudyPage.tsx create mode 100644 apps/platform/src/pages/StudyPage/index.ts create mode 100644 apps/platform/src/pages/VariantPage/Profile.tsx create mode 100644 apps/platform/src/pages/VariantPage/ProfileHeader.gql create mode 100644 apps/platform/src/pages/VariantPage/ProfileHeader.tsx create mode 100644 apps/platform/src/pages/VariantPage/VariantPage.gql delete mode 100644 apps/platform/src/pages/VariantPage/index.js create mode 100644 apps/platform/src/pages/VariantPage/index.ts create mode 100644 apps/platform/src/sections/variantSections.js create mode 100644 packages/sections/src/credibleSet/GWASColoc/Body.tsx create mode 100644 packages/sections/src/credibleSet/GWASColoc/Description.tsx create mode 100644 packages/sections/src/credibleSet/GWASColoc/GWASColocQuery.gql create mode 100644 packages/sections/src/credibleSet/GWASColoc/GWASColocSummaryFragment.gql create mode 100644 packages/sections/src/credibleSet/GWASColoc/Summary.tsx create mode 100644 packages/sections/src/credibleSet/GWASColoc/index.ts create mode 100644 packages/sections/src/credibleSet/Variants/Body.tsx create mode 100644 packages/sections/src/credibleSet/Variants/Description.tsx create mode 100644 packages/sections/src/credibleSet/Variants/Summary.tsx create mode 100644 packages/sections/src/credibleSet/Variants/VariantsQuery.gql create mode 100644 packages/sections/src/credibleSet/Variants/VariantsSummaryFragment.gql create mode 100644 packages/sections/src/credibleSet/Variants/index.ts create mode 100644 packages/sections/src/disease/GWASStudies/Body.tsx create mode 100644 packages/sections/src/disease/GWASStudies/Description.tsx create mode 100644 packages/sections/src/disease/GWASStudies/GWASStudiesQuery.gql create mode 100644 packages/sections/src/disease/GWASStudies/Summary.tsx create mode 100644 packages/sections/src/disease/GWASStudies/index.ts create mode 100644 packages/sections/src/study/GWASCredibleSets/Body.tsx create mode 100644 packages/sections/src/study/GWASCredibleSets/Description.tsx create mode 100644 packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql create mode 100644 packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql create mode 100644 packages/sections/src/study/GWASCredibleSets/Summary.tsx create mode 100644 packages/sections/src/study/GWASCredibleSets/index.ts create mode 100644 packages/sections/src/study/QTLCredibleSets/Body.tsx create mode 100644 packages/sections/src/study/QTLCredibleSets/Description.tsx create mode 100644 packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsQuery.gql create mode 100644 packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql create mode 100644 packages/sections/src/study/QTLCredibleSets/Summary.tsx create mode 100644 packages/sections/src/study/QTLCredibleSets/index.ts create mode 100644 packages/sections/src/study/SharedTraitStudies/Body.tsx create mode 100644 packages/sections/src/study/SharedTraitStudies/Description.tsx create mode 100644 packages/sections/src/study/SharedTraitStudies/SharedTraitStudiesQuery.gql create mode 100644 packages/sections/src/study/SharedTraitStudies/Summary.tsx create mode 100644 packages/sections/src/study/SharedTraitStudies/index.ts delete mode 100644 packages/sections/src/utils/comparators.js create mode 100644 packages/sections/src/utils/comparators.ts create mode 100644 packages/sections/src/utils/getStudyCategory.ts create mode 100644 packages/sections/src/variant/EVA/Body.tsx create mode 100644 packages/sections/src/variant/EVA/Description.tsx create mode 100644 packages/sections/src/variant/EVA/EVAQuery.gql create mode 100644 packages/sections/src/variant/EVA/EVASummaryFragment.gql create mode 100644 packages/sections/src/variant/EVA/Summary.tsx create mode 100644 packages/sections/src/variant/EVA/index.ts create mode 100644 packages/sections/src/variant/GWASCredibleSets/Body.tsx create mode 100644 packages/sections/src/variant/GWASCredibleSets/Description.tsx create mode 100644 packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql create mode 100644 packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql create mode 100644 packages/sections/src/variant/GWASCredibleSets/Summary.tsx create mode 100644 packages/sections/src/variant/GWASCredibleSets/index.ts create mode 100644 packages/sections/src/variant/InSilicoPredictors/Body.tsx create mode 100644 packages/sections/src/variant/InSilicoPredictors/Description.tsx create mode 100644 packages/sections/src/variant/InSilicoPredictors/InSilicoPredictorsQuery.gql create mode 100644 packages/sections/src/variant/InSilicoPredictors/InSilicoPredictorsSummaryFragment.gql create mode 100644 packages/sections/src/variant/InSilicoPredictors/Summary.tsx create mode 100644 packages/sections/src/variant/InSilicoPredictors/index.ts create mode 100644 packages/sections/src/variant/Pharmacogenomics/Body.tsx create mode 100644 packages/sections/src/variant/Pharmacogenomics/Description.tsx create mode 100644 packages/sections/src/variant/Pharmacogenomics/PharmacogenomicsQuery.gql create mode 100644 packages/sections/src/variant/Pharmacogenomics/PharmacogenomicsSummaryFragment.gql create mode 100644 packages/sections/src/variant/Pharmacogenomics/Summary.tsx create mode 100644 packages/sections/src/variant/Pharmacogenomics/index.ts create mode 100644 packages/sections/src/variant/QTLCredibleSets/Body.tsx create mode 100644 packages/sections/src/variant/QTLCredibleSets/Description.tsx create mode 100644 packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql create mode 100644 packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql create mode 100644 packages/sections/src/variant/QTLCredibleSets/Summary.tsx create mode 100644 packages/sections/src/variant/QTLCredibleSets/index.ts create mode 100644 packages/sections/src/variant/UniProtVariants/Body.tsx create mode 100644 packages/sections/src/variant/UniProtVariants/Description.tsx create mode 100644 packages/sections/src/variant/UniProtVariants/Summary.tsx create mode 100644 packages/sections/src/variant/UniProtVariants/UniProtVariantsQuery.gql create mode 100644 packages/sections/src/variant/UniProtVariants/UniProtVariantsSummaryFragment.gql create mode 100644 packages/sections/src/variant/UniProtVariants/index.ts create mode 100644 packages/sections/src/variant/VariantEffectPredictor/Body.tsx create mode 100644 packages/sections/src/variant/VariantEffectPredictor/Description.tsx create mode 100644 packages/sections/src/variant/VariantEffectPredictor/Summary.tsx create mode 100644 packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorQuery.gql create mode 100644 packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorSummaryFragment.gql create mode 100644 packages/sections/src/variant/VariantEffectPredictor/index.ts create mode 100644 packages/ui/src/components/DisplayVariantId.tsx diff --git a/apps/platform/.env b/apps/platform/.env index 4ceb89976..10e7d0df2 100644 --- a/apps/platform/.env +++ b/apps/platform/.env @@ -1,3 +1,3 @@ -VITE_API_URL=https://api.platform.dev.opentargets.xyz/api/v4/graphql +VITE_API_URL=https://api.genetics.dev.opentargets.xyz/api/v4/graphql VITE_AI_API_URL=https://dev-ai-api-w37vlfsidq-ew.a.run.app VITE_PROFILE=default \ No newline at end of file diff --git a/apps/platform/public/data/variant-data-1.json b/apps/platform/public/data/variant-data-1.json deleted file mode 100644 index 95433f564..000000000 --- a/apps/platform/public/data/variant-data-1.json +++ /dev/null @@ -1,404 +0,0 @@ -[ - { - "variantId": "X_27135701_T_C", - "chromosome": "X", - "position": 27135701, - "chromosomeB37": "X", - "positionB37": 27153818, - "referenceAllele": "T", - "alternateAllele": "C", - "rsIds": [ - "rs899125696" - ], - "alleleType": "snv", - "alleleFrequencies": [ - { - "populationName": "afr_adj", - "alleleFrequency": 0.00006494560805325539 - }, - { - "populationName": "ami_adj", - "alleleFrequency": 0 - }, - { - "populationName": "amr_adj", - "alleleFrequency": 0 - }, - { - "populationName": "asj_adj", - "alleleFrequency": 0 - }, - { - "populationName": "eas_adj", - "alleleFrequency": 0 - }, - { - "populationName": "fin_adj", - "alleleFrequency": 0 - }, - { - "populationName": "mid_adj", - "alleleFrequency": 0 - }, - { - "populationName": 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29845539, - "referenceAllele": "G", - "alternateAllele": "A", - "rsIds": [ - "rs754890194" - ], - "alleleType": "snv", - "alleleFrequencies": [ - { - "populationName": "afr_adj", - "alleleFrequency": 0.00007241479192816453 - }, - { - "populationName": "ami_adj", - "alleleFrequency": 0 - }, - { - "populationName": "amr_adj", - "alleleFrequency": 0 - }, - { - "populationName": "asj_adj", - "alleleFrequency": 0 - }, - { - "populationName": "eas_adj", - "alleleFrequency": 0 - }, - { - "populationName": "fin_adj", - "alleleFrequency": 0 - }, - { - "populationName": "mid_adj", - "alleleFrequency": 0 - }, - { - "populationName": "nfe_adj", - "alleleFrequency": 0 - }, - { - "populationName": "remaining_adj", - "alleleFrequency": 0 - }, - { - "populationName": "sas_adj", - "alleleFrequency": 0 - } - ], - "vep": { - "mostSevereConsequence": "missense_variant", - "transcriptConsequences": [ - { - "aminoAcids": "V/I", - "consequenceTerms": [ - "missense_variant" - ], - "geneId": "ENSG00000215547" - } - ] - }, - "inSilicoPredictors": { - "cadd": { - "phred": 11.31, - "raw": 0.974809 - }, - "revelMax": 0.05, - "spliceaiDsMax": 0, - "pangolinLargestDs": 0, - "phylop": 0.631, - "siftMax": 0.3, - "polyphenMax": 0.328 - } - } -] \ No newline at end of file diff --git a/apps/platform/src/App.tsx b/apps/platform/src/App.tsx index 55e02bfbf..587a0d686 100644 --- a/apps/platform/src/App.tsx +++ b/apps/platform/src/App.tsx @@ -14,6 +14,8 @@ import DrugPage from "./pages/DrugPage"; import TargetPage from "./pages/TargetPage"; import EvidencePage from "./pages/EvidencePage"; import VariantPage from "./pages/VariantPage"; +import StudyPage from "./pages/StudyPage"; +import CredibleSetPage from "./pages/CredibleSetPage"; import APIPage from "./pages/APIPage"; import NotFoundPage from "./pages/NotFoundPage"; import ProjectsPage from "./pages/ProjectsPage"; @@ -57,6 +59,12 @@ function App(): ReactElement { + + + + + + @@ -69,7 +77,7 @@ function App(): ReactElement { - + {/* */} diff --git a/apps/platform/src/client.js b/apps/platform/src/client.js index 8d743ffc4..9b4903125 100644 --- a/apps/platform/src/client.js +++ b/apps/platform/src/client.js @@ -19,6 +19,12 @@ const client = new ApolloClient({ Hallmarks: { keyFields: [], }, + AlleleFrequency: { + keyFields: ["populationName"], + }, + InSilicoPredictor: { + keyFields: ["method"], + }, }, }), headers: { "OT-Platform": true }, diff --git a/apps/platform/src/components/Search/SearchQuery.gql b/apps/platform/src/components/Search/SearchQuery.gql index 5093e70e6..8c4d92382 100644 --- a/apps/platform/src/components/Search/SearchQuery.gql +++ b/apps/platform/src/components/Search/SearchQuery.gql @@ -1,13 +1,21 @@ query SearchQuery($queryString: String!) { topHit: search( queryString: $queryString - entityNames: ["target", "disease", "drug"] + entityNames: ["target", "disease", "drug", "variant"] page: { index: 0, size: 1 } ) { hits { id entity object { + ... on Variant { + id + referenceAllele + alternateAllele + rsIds + __typename + } + ... on Target { id approvedSymbol @@ -34,6 +42,24 @@ query SearchQuery($queryString: String!) { } } } + variants: search( + queryString: $queryString + entityNames: ["variant"] + page: {index: 0, size: 3} + ) { + hits { + id + entity + object { + ... on Variant { + id + referenceAllele + alternateAllele + rsIds + } + } + } + } targets: search( queryString: $queryString entityNames: ["target"] diff --git a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql new file mode 100644 index 000000000..9767b96a9 --- /dev/null +++ b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql @@ -0,0 +1,12 @@ +query CredibleSetPageQuery($studyLocusIds: [String!]!) { + credibleSets(studyLocusIds: $studyLocusIds) { + variant { + id, + referenceAllele, + alternateAllele + } + study { + studyId + } + } +} \ No newline at end of file diff --git a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx new file mode 100644 index 000000000..fb712c95e --- /dev/null +++ b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx @@ -0,0 +1,75 @@ +import { useQuery } from "@apollo/client"; +import { useLocation, useParams, Switch, Route, useRouteMatch, Link } from "react-router-dom"; +import { Box, Tabs, Tab } from "@mui/material"; +import { BasePage, ScrollToTop } from "ui"; +import Header from "./Header"; +import NotFoundPage from "../NotFoundPage"; +import CREDIBLE_SET_PAGE_QUERY from "./CredibleSetPage.gql"; +import Profile from "./Profile"; + +function CredibleSetPage() { + const location = useLocation(); + const { studyLocusId } = useParams() as { studyLocusId: string }; + const { path } = useRouteMatch(); + + const { loading, data } = useQuery(CREDIBLE_SET_PAGE_QUERY, { + variables: { studyLocusIds: [studyLocusId] }, + }); + + if (data && !data?.credibleSets.length) { + return ; + } + + const credibleSet = data?.credibleSets[0]; + const variantId = credibleSet?.variant?.id; + const referenceAllele = credibleSet?.variant?.referenceAllele; + const alternateAllele = credibleSet?.variant?.alternateAllele; + const studyId = credibleSet?.study?.studyId; + + return ( + +
+ + ( + + + Profile} + value={`/credible-set/${studyLocusId}`} + component={Link} + to={`/credible-set/${studyLocusId}`} + /> + + + )} + /> + + + + + + + + ); +} + +export default CredibleSetPage; diff --git a/apps/platform/src/pages/CredibleSetPage/Header.tsx b/apps/platform/src/pages/CredibleSetPage/Header.tsx new file mode 100644 index 000000000..2b05d2222 --- /dev/null +++ b/apps/platform/src/pages/CredibleSetPage/Header.tsx @@ -0,0 +1,50 @@ +import { faDiagramProject } from "@fortawesome/free-solid-svg-icons"; +import { Header as HeaderBase, DisplayVariantId, ExternalLink } from "ui"; + +type HeaderProps = { + loading: boolean; + variantId: string; + referenceAllele: string; + alternateAllele: string; + studyId: string; +}; + +function Header({ + loading, + variantId, + referenceAllele, + alternateAllele, + studyId + }: HeaderProps) { + + return ( + + + } + url={`../variant/${variantId}`} + /> + + + } + /> + ); +} + +export default Header; \ No newline at end of file diff --git a/apps/platform/src/pages/CredibleSetPage/Profile.tsx b/apps/platform/src/pages/CredibleSetPage/Profile.tsx new file mode 100644 index 000000000..e55ca3f8b --- /dev/null +++ b/apps/platform/src/pages/CredibleSetPage/Profile.tsx @@ -0,0 +1,93 @@ +import { Suspense, lazy } from "react"; +import { gql } from "@apollo/client"; +import { + PlatformApiProvider, + SectionContainer, + SummaryContainer, + SectionLoader, + summaryUtils, +} from "ui"; + +import VariantsSummary from "sections/src/credibleSet/Variants/Summary"; +import GWASColocSummary from "sections/src/credibleSet/GWASColoc/Summary"; + +import client from "../../client"; +import ProfileHeader from "./ProfileHeader"; +const VariantsSection = lazy( + () => import("sections/src/credibleSet/Variants/Body") +); +const GWASColocSection = lazy( + () => import("sections/src/credibleSet/GWASColoc/Body") +); + +const summaries = [ + VariantsSummary, + GWASColocSummary, +]; + +const CREDIBLE_SET = "credibleSets"; +const CREDIBLE_SET_PROFILE_SUMMARY_FRAGMENT = summaryUtils.createSummaryFragment( + summaries, + "credibleSet", + "CredibleSetProfileSummaryFragment" +); +const CREDIBLE_SET_PROFILE_QUERY = gql` + query CredibleSetProfileQuery($studyLocusIds: [String!]!) { + credibleSets(studyLocusIds: $studyLocusIds) { + studyLocusId + ...CredibleSetProfileHeaderFragment + ...CredibleSetProfileSummaryFragment + } + } + ${ProfileHeader.fragments.profileHeader} + ${CREDIBLE_SET_PROFILE_SUMMARY_FRAGMENT} +`; + +type ProfileProps = { + studyLocusId: string; + variantId: string; + referenceAllele: string; + alternateAllele: string; +}; + +function Profile({ + studyLocusId, + variantId, + referenceAllele, + alternateAllele, + }: ProfileProps) { + + return ( + + + + + + + + + + }> + + + }> + + + + + ); + +} + +export default Profile; diff --git a/apps/platform/src/pages/CredibleSetPage/ProfileHeader.gql b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.gql new file mode 100644 index 000000000..b4461e25e --- /dev/null +++ b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.gql @@ -0,0 +1,47 @@ +fragment CredibleSetProfileHeaderFragment on credibleSet { + pValueMantissa + pValueExponent + beta + standardError + effectAlleleFrequencyFromSource + locus { + posteriorProbability + pValueMantissa + pValueExponent + beta + standardError + variant { + id + } + } + variant { + chromosome + position + rsIds + } + finemappingMethod + credibleSetIndex + purityMinR2 + locusStart + locusEnd + study { + projectId + publicationFirstAuthor + publicationDate + traitFromSource + diseases { + id + name + } + target { + id + approvedSymbol + } + biosample { + biosampleId + } + publicationJournal + pubmedId + nSamples + } +} \ No newline at end of file diff --git a/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx new file mode 100644 index 000000000..8f2bceada --- /dev/null +++ b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx @@ -0,0 +1,222 @@ +import { Fragment } from "react"; +import { + usePlatformApi, + Field, + ProfileHeader as BaseProfileHeader, + Link, + ScientificNotation, + Tooltip, + PublicationsDrawer, +} from "ui"; +import { Box, Typography } from "@mui/material"; +import CREDIBLE_SET_PROFILE_HEADER_FRAGMENT from "./ProfileHeader.gql"; +import { getStudyCategory } from "sections/src/utils/getStudyCategory"; +import { epmcUrl } from "../../utils/urls"; + +type ProfileHeaderProps = { + variantId: string; +}; + +function ProfileHeader({ variantId }: ProfileHeaderProps) { + + const { loading, error, data } = usePlatformApi(); + + // TODO: Errors! + if (error) return null; + + const credibleSet = data?.credibleSets?.[0]; + const study = credibleSet?.study; + const studyCategory = study ? getStudyCategory(study.projectId) : null; + const target = study?.target; + const leadVariant = credibleSet?.locus?.find(loc => loc?.variant.id === variantId); + const beta = leadVariant?.beta ?? credibleSet?.beta; + const standardError = leadVariant?.standardError ?? credibleSet?.standardError; + const { pValueMantissa, pValueExponent } = + typeof leadVariant?.pValueMantissa === "number" && + typeof leadVariant?.pValueExponent === "number" + ? leadVariant + : credibleSet ?? {}; + + return ( + + + + Lead Variant + {typeof pValueMantissa === "number" && typeof pValueExponent === "number" && + + + + } + {typeof beta === 'number' && + + Beta with respect to the ALT allele + + } + showHelpIcon + > + Beta + + } + > + {beta.toPrecision(3)} + + } + {typeof standardError === 'number' && + + Standard error: Estimate of the standard deviation of the sampling distribution of the beta + + } + showHelpIcon + > + Standard error + + } + > + {standardError.toPrecision(3)} + + } + {typeof credibleSet?.effectAlleleFrequencyFromSource === "number" && + + {credibleSet.effectAlleleFrequencyFromSource.toPrecision(3)} + + } + {typeof leadVariant?.posteriorProbability === "number" && + + Posterior inclusion probability from fine-mapping that this variant is causal + + } + showHelpIcon + > + Posterior probability + + } + > + {leadVariant.posteriorProbability.toPrecision(3)} + + } + + {credibleSet?.variant && + `${credibleSet.variant.chromosome}:${credibleSet.variant.position}` + } + + { + credibleSet?.variant?.rsIds.length > 0 && + + { + credibleSet.variant.rsIds.map((rsid, index) => ( + + {index > 0 && ", "} + + {rsid} + + + )) + } + + } + + Credible Set + + {credibleSet?.finemappingMethod} + + + {credibleSet?.credibleSetIndex} + + + {credibleSet?.purityMinR2?.toPrecision(3)} + + + {credibleSet?.locusStart} + + + {credibleSet?.locusEnd} + + + + + Study + + {study?.publicationFirstAuthor} + + + {study?.publicationDate?.slice(0, 4)} + + {studyCategory !== "QTL" && + <> + + {study?.traitFromSource} + + {study?.diseases?.length > 0 && + + {study.diseases.map(({ id, name }, index) => ( + + {index > 0 ? ", " : null} + {name} + + ))} + + } + + } + {studyCategory === "QTL" && + <> + {target?.id && + + + {target.approvedSymbol} + + + } + { study?.biosample?.biosampleId && + + + {study.biosample.biosampleId} + + + } + + } + + {study?.publicationJournal} + + {study?.pubmedId && + + + {study.pubmedId} + + + } + + {study?.nSamples} + + + + + ); +} + +ProfileHeader.fragments = { + profileHeader: CREDIBLE_SET_PROFILE_HEADER_FRAGMENT, +}; + +export default ProfileHeader; \ No newline at end of file diff --git a/apps/platform/src/pages/CredibleSetPage/index.ts b/apps/platform/src/pages/CredibleSetPage/index.ts new file mode 100644 index 000000000..abed1aace --- /dev/null +++ b/apps/platform/src/pages/CredibleSetPage/index.ts @@ -0,0 +1 @@ +export { default } from "./CredibleSetPage"; diff --git a/apps/platform/src/pages/DiseasePage/Profile.jsx b/apps/platform/src/pages/DiseasePage/Profile.jsx index 9992506cf..8453a920d 100644 --- a/apps/platform/src/pages/DiseasePage/Profile.jsx +++ b/apps/platform/src/pages/DiseasePage/Profile.jsx @@ -15,6 +15,7 @@ import KnownDrugsSummary from "sections/src/disease/KnownDrugs/Summary"; import BibliographySummary from "sections/src/disease/Bibliography/Summary"; import PhenotypesSummary from "sections/src/disease/Phenotypes/Summary"; import OTProjectsSummary from "sections/src/disease/OTProjects/Summary"; +import GWASStudiesSummary from "sections/src/disease/GWASStudies/Summary"; import client from "../../client"; import ProfileHeader from "./ProfileHeader"; @@ -24,7 +25,11 @@ const KnownDrugsSection = lazy(() => import("sections/src/disease/KnownDrugs/Bod const BibliographySection = lazy(() => import("sections/src/disease/Bibliography/Body")); const PhenotypesSection = lazy(() => import("sections/src/disease/Phenotypes/Body")); const OTProjectsSection = lazy(() => import("sections/src/disease/OTProjects/Body")); +const GWASStudiesSection = lazy(() => import("sections/src/disease/GWASStudies/Body")); +// no GWASStudiesSummary as we add section to the query below directly +// (the summary cannot be written as a fragment as it uses a different +// endpoint - gwasStudy rather than disease) const summaries = [ OntologySummary, KnownDrugsSummary, @@ -42,6 +47,9 @@ const DISEASE_PROFILE_QUERY = gql` ...DiseaseProfileHeaderFragment ...DiseaseProfileSummaryFragment } + gwasStudy(diseaseIds: [$efoId], page: { size: 1, index: 0}) { + studyId + } } ${ProfileHeader.fragments.profileHeader} ${DISEASE_PROFILE_SUMMARY_FRAGMENT} @@ -52,7 +60,9 @@ function Profile({ efoId, name }) { @@ -60,6 +70,7 @@ function Profile({ efoId, name }) { + @@ -76,6 +87,9 @@ function Profile({ efoId, name }) { }> + }> + + }> diff --git a/apps/platform/src/pages/HomePage/HomePage.jsx b/apps/platform/src/pages/HomePage/HomePage.jsx index 438575d24..3701a52b4 100644 --- a/apps/platform/src/pages/HomePage/HomePage.jsx +++ b/apps/platform/src/pages/HomePage/HomePage.jsx @@ -111,7 +111,7 @@ function HomePage({ suggestions }) { - {/* Search examples */} + {suggestions[0].name} @@ -140,6 +140,23 @@ function HomePage({ suggestions }) { + + + + {suggestions[6].name} + + + + + {suggestions[7].name} + + + + + {suggestions[8].name} + + +
diff --git a/apps/platform/src/pages/HomePage/PPHomePage.jsx b/apps/platform/src/pages/HomePage/PPHomePage.jsx index 943b6e3d0..c058ed254 100644 --- a/apps/platform/src/pages/HomePage/PPHomePage.jsx +++ b/apps/platform/src/pages/HomePage/PPHomePage.jsx @@ -128,6 +128,15 @@ function HomePage({ suggestions }) { {suggestions[5].name} + + {suggestions[6].name} + + + {suggestions[7].name} + + + {suggestions[8].name} +
diff --git a/apps/platform/src/pages/HomePage/searchExamples.ts b/apps/platform/src/pages/HomePage/searchExamples.ts index e9648d94a..9ae2e07ef 100644 --- a/apps/platform/src/pages/HomePage/searchExamples.ts +++ b/apps/platform/src/pages/HomePage/searchExamples.ts @@ -1,4 +1,4 @@ -type Entity = "disease" | "drug" | "target"; +type Entity = "disease" | "drug" | "target" | "variant"; type Suggestion = { type: string; @@ -11,6 +11,7 @@ type Examples = { targets: Suggestion[]; diseases: Suggestion[]; drugs: Suggestion[]; + variants: Suggestion[]; }; export const pppSearchExamples: Examples = { @@ -40,6 +41,13 @@ export const pppSearchExamples: Examples = { { type: "suggestion", entity: "drug", name: "IVACAFTOR", id: "CHEMBL2010601" }, { type: "suggestion", entity: "drug", name: "LYRICA", id: "CHEMBL1059" }, ], + variants: [ + { type: "suggestion", entity: "variant", name: "4_1804392_G_A", id: "4_1804392_G_A" }, + { type: "suggestion", entity: "variant", name: "11_64600382_G_A", id: "11_64600382_G_A" }, + { type: "suggestion", entity: "variant", name: "12_6333477_C_T", id: "12_6333477_C_T" }, + { type: "suggestion", entity: "variant", name: "15_90088702_C_T", id: "15_90088702_C_T" }, + { type: "suggestion", entity: "variant", name: "17_63945614_C_T", id: "17_63945614_C_T" }, + ], }; export const searchExamples: Examples = { @@ -104,4 +112,11 @@ export const searchExamples: Examples = { { type: "suggestion", entity: "drug", name: "IVACAFTOR", id: "CHEMBL2010601" }, { type: "suggestion", entity: "drug", name: "LYRICA", id: "CHEMBL1059" }, ], + variants: [ + { type: "suggestion", entity: "variant", name: "4_1804392_G_A", id: "4_1804392_G_A" }, + { type: "suggestion", entity: "variant", name: "11_64600382_G_A", id: "11_64600382_G_A" }, + { type: "suggestion", entity: "variant", name: "12_6333477_C_T", id: "12_6333477_C_T" }, + { type: "suggestion", entity: "variant", name: "15_90088702_C_T", id: "15_90088702_C_T" }, + { type: "suggestion", entity: "variant", name: "17_63945614_C_T", id: "17_63945614_C_T" }, + ], }; diff --git a/apps/platform/src/pages/SearchPage/SearchContainer.jsx b/apps/platform/src/pages/SearchPage/SearchContainer.jsx index 5889b6e72..1d6c83e4b 100644 --- a/apps/platform/src/pages/SearchPage/SearchContainer.jsx +++ b/apps/platform/src/pages/SearchPage/SearchContainer.jsx @@ -9,7 +9,12 @@ import { } from "@mui/material"; import { makeStyles } from "@mui/styles"; import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; -import { faDna, faPrescriptionBottleAlt, faStethoscope } from "@fortawesome/free-solid-svg-icons"; +import { + faDna, + faMapPin, + faPrescriptionBottleAlt, + faStethoscope +} from "@fortawesome/free-solid-svg-icons"; import { ErrorBoundary } from "ui"; import DiseaseDetail from "./DiseaseDetail"; @@ -18,11 +23,14 @@ import DrugDetail from "./DrugDetail"; import DrugResult from "./DrugResult"; import TargetDetail from "./TargetDetail"; import TargetResult from "./TargetResult"; +import VariantDetail from "./VariantDetail"; +import VariantResult from "./VariantResult"; const getCounts = entities => { const counts = { target: 0, disease: 0, + variant: 0, drug: 0, }; @@ -61,6 +69,18 @@ const SearchFilters = ({ entities, entitiesCount, setEntity }) => { } /> + } + label={ + <> + + + Variant ({counts.variant}) + + + } + /> ; if (object[TYPE_NAME] === "Disease") return ; + if (object[TYPE_NAME] === "Variant") + return ; return ; })} @@ -132,6 +154,7 @@ function TopHitDetail({ topHit }) { const TYPE_NAME = "__typename"; if (topHit[TYPE_NAME] === "Target") COMPONENT = ; else if (topHit[TYPE_NAME] === "Disease") COMPONENT = ; + else if (topHit[TYPE_NAME] === "Variant") COMPONENT = ; else if (topHit[TYPE_NAME] === "Drug") COMPONENT = ; return ( diff --git a/apps/platform/src/pages/SearchPage/SearchPageQuery.gql b/apps/platform/src/pages/SearchPage/SearchPageQuery.gql index 46d40dc87..a060e5c30 100644 --- a/apps/platform/src/pages/SearchPage/SearchPageQuery.gql +++ b/apps/platform/src/pages/SearchPage/SearchPageQuery.gql @@ -19,6 +19,13 @@ query SearchPageQuery( id highlights object { + ... on Variant { + id + referenceAllele + alternateAllele + rsIds + } + ... on Target { id approvedSymbol @@ -46,6 +53,17 @@ query SearchPageQuery( ) { hits { object { + ... on Variant { + id + chromosome + position + referenceAllele + alternateAllele + rsIds + mostSevereConsequence { + label + } + } ... on Target { id approvedSymbol diff --git a/apps/platform/src/pages/SearchPage/VariantDetail.jsx b/apps/platform/src/pages/SearchPage/VariantDetail.jsx new file mode 100644 index 000000000..2ed8d6ddb --- /dev/null +++ b/apps/platform/src/pages/SearchPage/VariantDetail.jsx @@ -0,0 +1,78 @@ +import { CardContent, Typography } from "@mui/material"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faMapPin } from "@fortawesome/free-solid-svg-icons"; +import { Link, DisplayVariantId, LongText } from "ui"; + +function VariantDetail({ data }) { + return ( + + + + + + + + Variant + + {data.rsIds.length > 0 && + <> + + Ensembl + + + {data.rsIds.join(", ")} + + + } + + GRCh38 + + + {data.chromosome}:{data.position} + + + Reference Allele + + + + + {data.referenceAllele} + + + + + Alternate Allele + + + + + {data.alternateAllele} + + + + {data.mostSevereConsequence && + <> + + Most Severe Consequence + + + {data.mostSevereConsequence.label.replace(/_/g, ' ')} + + + } + + ); +} + +export default VariantDetail; diff --git a/apps/platform/src/pages/SearchPage/VariantResult.jsx b/apps/platform/src/pages/SearchPage/VariantResult.jsx new file mode 100644 index 000000000..284a8a4d0 --- /dev/null +++ b/apps/platform/src/pages/SearchPage/VariantResult.jsx @@ -0,0 +1,45 @@ +import { makeStyles, useTheme } from "@mui/styles"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faMapPin } from "@fortawesome/free-solid-svg-icons"; +import { Highlights, Link, DisplayVariantId } from "ui"; +import { Box, Typography } from "@mui/material"; + +const useStyles = makeStyles(theme => ({ + container: { + marginBottom: "30px", + }, + subtitle: { + fontSize: "20px", + fontWeight: 500, + }, + icon: { + color: theme.palette.primary.main, + }, +})); + +function VariantResult({ data, highlights }) { + const classes = useStyles(); + const theme = useTheme(); + + return ( +
+ + {" "} + + + {data.rsIds.length > 0 && + + {data.rsIds.join(", ")} + + } + +
+ ); +} + +export default VariantResult; \ No newline at end of file diff --git a/apps/platform/src/pages/StudyPage/Header.tsx b/apps/platform/src/pages/StudyPage/Header.tsx new file mode 100644 index 000000000..644c0bc64 --- /dev/null +++ b/apps/platform/src/pages/StudyPage/Header.tsx @@ -0,0 +1,99 @@ +import { faChartBar } from "@fortawesome/free-solid-svg-icons"; +import { Header as HeaderBase, ExternalLink, XRefLinks } from "ui"; + +type HeaderProps = { + loading: boolean; + studyId: string; + backgroundTraits: { + id: string; + name: string; + }[]; + targetId: string; + diseases: { + id: string; + name: string; + }[]; + studyCategory: string; +}; + +function Header({ + loading, + studyId, + backgroundTraits, + targetId, + diseases, + studyCategory + }: HeaderProps) { + + let traitLinks, sourceLink; + if (studyCategory === 'GWAS') { + if (diseases?.length) { + traitLinks = d.id)} + names={diseases.map(d => d.name)} + /> + } + sourceLink = { + id: "GWAS Catalog", + url: `https://www.ebi.ac.uk/gwas/studies/${studyId}`, + }; + } else if (studyCategory === 'FINNGEN') { + if (diseases?.length) { + traitLinks = d.id)} + names={diseases.map(d => d.name)} + /> + } + sourceLink = { + id: "FinnGen", + url: `https://r10.finngen.fi/pheno/${studyId}`, + }; + } else { // QTL + if (targetId) { + traitLinks = + } + sourceLink = { + id: "eQTL Catalog", + url: "https://www.ebi.ac.uk/eqtl/Studies/", + }; + }; + + return ( + + {traitLinks} + { + studyCategory === "GWAS" && backgroundTraits?.length > 0 && + t.id)} + names={backgroundTraits.map(t => t.name)} + /> + } + + + } + /> + ); + +} + +export default Header; \ No newline at end of file diff --git a/apps/platform/src/pages/StudyPage/Profile.tsx b/apps/platform/src/pages/StudyPage/Profile.tsx new file mode 100644 index 000000000..dfb228fb9 --- /dev/null +++ b/apps/platform/src/pages/StudyPage/Profile.tsx @@ -0,0 +1,110 @@ +import { Suspense, lazy } from "react"; +import { gql } from "@apollo/client"; +import { + PlatformApiProvider, + SectionContainer, + SummaryContainer, + SectionLoader, + summaryUtils, +} from "ui"; + +import SharedTraitStudiesSummary from "sections/src/study/SharedTraitStudies/Summary"; +import GWASCredidbleSetsSummary from "sections/src/study/GWASCredibleSets/Summary"; +import QTLCredibleSetsSummary from "sections/src/study/QTLCredibleSets/Summary"; + +import client from "../../client"; +import ProfileHeader from "./ProfileHeader"; + +const SharedTraitStudiesSection = lazy( + () => import("sections/src/study/SharedTraitStudies/Body") +); +const GWASCredibleSetsSection = lazy(() => import("sections/src/study/GWASCredibleSets/Body")); +const QTLCredibleSetsSection = lazy(() => import("sections/src/study/QTLCredibleSets/Body")); + +// no SharedTraitStudiesSummary as we add section to the query below directly +// (the summary cannot be written as a fragment as it gets further studies) +const summaries = [GWASCredidbleSetsSummary, QTLCredibleSetsSummary]; + +const STUDY = "gwasStudy"; +const STUDY_PROFILE_SUMMARY_FRAGMENT = summaryUtils.createSummaryFragment( + summaries, + "Gwas", + "StudyProfileSummaryFragment" +); +const STUDY_PROFILE_QUERY = gql` + query StudyProfileQuery($studyId: String!, $diseaseIds: [String!]!) { + gwasStudy(studyId: $studyId) { + studyId + ...StudyProfileHeaderFragment + ...StudyProfileSummaryFragment + } + sharedTraitStudies: gwasStudy(diseaseIds: $diseaseIds, page: { size: 2, index: 0}) { + studyId + } + } + ${ProfileHeader.fragments.profileHeader} + ${STUDY_PROFILE_SUMMARY_FRAGMENT} +`; + +type ProfileProps = { + studyId: string; + studyCategory: string; + diseases: { + id: string; + name: string; + }[]; +}; + +function Profile({ studyId, studyCategory, diseases }: ProfileProps) { + const diseaseIds = diseases?.map(d => d.id) || []; + + return ( + + + + + {(studyCategory === "GWAS" || studyCategory === "FINNGEN") && + <> + + + + } + {studyCategory === "QTL" && + + } + + + + {(studyCategory === "GWAS" || studyCategory === "FINNGEN") && + <> + }> + + + }> + + + + } + {studyCategory === "QTL" && ( + }> + + + )} + + + ); +} + +export default Profile; \ No newline at end of file diff --git a/apps/platform/src/pages/StudyPage/ProfileHeader.gql b/apps/platform/src/pages/StudyPage/ProfileHeader.gql new file mode 100644 index 000000000..f2d960d37 --- /dev/null +++ b/apps/platform/src/pages/StudyPage/ProfileHeader.gql @@ -0,0 +1,27 @@ +fragment StudyProfileHeaderFragment on Gwas { + studyId + publicationFirstAuthor + publicationDate + publicationJournal + pubmedId + traitFromSource + nSamples + initialSampleSize + replicationSamples { + sampleSize + ancestry + } + nCases + nControls + cohorts + ldPopulationStructure { + ldPopulation + relativeSampleSize + } + qualityControls + analysisFlags + discoverySamples { + sampleSize + ancestry + } +} diff --git a/apps/platform/src/pages/StudyPage/ProfileHeader.tsx b/apps/platform/src/pages/StudyPage/ProfileHeader.tsx new file mode 100644 index 000000000..0e3ba779e --- /dev/null +++ b/apps/platform/src/pages/StudyPage/ProfileHeader.tsx @@ -0,0 +1,186 @@ +import { + usePlatformApi, + Link, + Field, + ProfileHeader as BaseProfileHeader, + Tooltip, +} from "ui"; +import { Typography, Box } from "@mui/material"; + +import STUDY_PROFILE_HEADER_FRAGMENT from "./ProfileHeader.gql"; + +type samplesType = { + ancestry: string; + sampleSize: number; +}[]; + +function formatSamples(samples: samplesType) { + return samples + .map(({ ancestry, sampleSize }) => `${ancestry}: ${sampleSize}`) + .join(", "); +} + +type ProfileHeaderProps = { + studyCategory: string; +}; + +function ProfileHeader({ studyCategory }: ProfileHeaderProps) { + const { loading, error, data } = usePlatformApi(); + + // TODO: Errors! + if (error) return null; + + const { + publicationFirstAuthor, + publicationDate, + publicationJournal, + pubmedId, + nSamples, + initialSampleSize, + replicationSamples, + traitFromSource, + nCases, + nControls, + cohorts, + ldPopulationStructure, + qualityControls, + analysisFlags, + discoverySamples, + } = data?.gwasStudy?.[0] || {}; + + return ( + + <> + + { + studyCategory === "GWAS" || studyCategory === "QTL" + ? publicationFirstAuthor + : "FINNGEN" + } + + + { + studyCategory === "GWAS" || studyCategory === "QTL" + ? publicationDate + : "2023" + } + + + { + (studyCategory === "GWAS" || studyCategory === "QTL") && + publicationJournal + } + + + { + (studyCategory === "GWAS" || studyCategory === "QTL") && pubmedId + ? + {pubmedId} + + : null + } + + + {traitFromSource} + + + {nSamples} + + + { + studyCategory === "GWAS" + ? initialSampleSize + : studyCategory === "FINNGEN" + ? (discoverySamples?.length + ? (initialSampleSize + ? + Initial sample size: {initialSampleSize} +
+ } + showHelpIcon + > + {formatSamples(discoverySamples)} + + : formatSamples(discoverySamples) + ) + : null + ) + : null + } + + + { + studyCategory === "GWAS" && + replicationSamples?.length && + formatSamples(replicationSamples) + } + + + { + (studyCategory === "GWAS" || studyCategory === "FINNGEN") && + (typeof nCases === "number") && + nCases + } + + + { + (studyCategory === "GWAS" || studyCategory === "FINNGEN") && + (typeof nControls === "number") && + nControls + } + + + { + ( + (studyCategory === "GWAS" && cohorts?.length) || + (studyCategory === "FINNGEN") + ) && (ldPopulationStructure?.length + ? + + LD populations and relative sample sizes + + {ldPopulationStructure.map(({ ldPopulation, relativeSampleSize }) => ( + + + {ldPopulation}: {relativeSampleSize} + + + ))} + + } + showHelpIcon + > + {studyCategory === 'GWAS' ? cohorts.join(", ") : "FinnGen"} + + : (studyCategory === 'GWAS' ? cohorts.join(", ") : "FinnGen") + ) + } + + + { + studyCategory === "GWAS" && + qualityControls?.length && + qualityControls.join(", ") + } + + + { + studyCategory === "GWAS" && + analysisFlags?.length && + analysisFlags.join(", ") + } + + + + ); +} + +ProfileHeader.fragments = { + profileHeader: STUDY_PROFILE_HEADER_FRAGMENT, +}; + +export default ProfileHeader; diff --git a/apps/platform/src/pages/StudyPage/StudyPage.gql b/apps/platform/src/pages/StudyPage/StudyPage.gql new file mode 100644 index 000000000..f3cda74ea --- /dev/null +++ b/apps/platform/src/pages/StudyPage/StudyPage.gql @@ -0,0 +1,17 @@ +query StudyPageQuery($studyId: String!) { + gwasStudy(studyId: $studyId) { + studyId + projectId + backgroundTraits { + id + name + } + target { + id + } + diseases { + id + name + } + } +} diff --git a/apps/platform/src/pages/StudyPage/StudyPage.tsx b/apps/platform/src/pages/StudyPage/StudyPage.tsx new file mode 100644 index 000000000..0171960f3 --- /dev/null +++ b/apps/platform/src/pages/StudyPage/StudyPage.tsx @@ -0,0 +1,80 @@ +import { useQuery } from "@apollo/client"; +import { BasePage, ScrollToTop } from "ui"; +import { Box, Tabs, Tab } from "@mui/material"; +import { + useLocation, + useParams, + Switch, + Route, + useRouteMatch, + Link, + Redirect, +} from "react-router-dom"; +import Header from "./Header"; +import NotFoundPage from "../NotFoundPage"; +import STUDY_PAGE_QUERY from "./StudyPage.gql"; +import Profile from "./Profile"; +import { getStudyCategory } from "sections/src/utils/getStudyCategory"; + +function StudyPage() { + const location = useLocation(); + const { studyId } = useParams() as { studyId: string }; + const { path } = useRouteMatch(); + + const { loading, data } = useQuery(STUDY_PAGE_QUERY, { + variables: { studyId }, + }); + + const studyInfo = data?.gwasStudy?.[0]; + + if (data && !studyInfo) { + return ; + } + + const studyCategory = getStudyCategory(studyInfo?.projectId); + + return ( + +
+ + + ( + + + Profile} + value={`/study/${studyId}`} + component={Link} + to={`/study/${studyId}`} + /> + + + )} + /> + + + + + + + + + + + ); +} + +export default StudyPage; diff --git a/apps/platform/src/pages/StudyPage/index.ts b/apps/platform/src/pages/StudyPage/index.ts new file mode 100644 index 000000000..e7341980e --- /dev/null +++ b/apps/platform/src/pages/StudyPage/index.ts @@ -0,0 +1 @@ +export { default } from "./StudyPage"; diff --git a/apps/platform/src/pages/VariantPage/Header.tsx b/apps/platform/src/pages/VariantPage/Header.tsx index 9cabe1cde..74bbc4535 100644 --- a/apps/platform/src/pages/VariantPage/Header.tsx +++ b/apps/platform/src/pages/VariantPage/Header.tsx @@ -1,45 +1,87 @@ import { faMapPin } from "@fortawesome/free-solid-svg-icons"; -import { Header as HeaderBase, ExternalLink } from "ui"; -import { MetadataType } from "./types"; +import { Header as HeaderBase, XRefLinks, DisplayVariantId } from "ui"; +import { VariantPageDataType } from "./types"; + +const xrefsToDisplay = { + ensembl_variation: { + label: "Ensembl", + urlStem: "https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=", + }, + gnomad: { + label: "gnomAD", + urlBuilder: id => `https://gnomad.broadinstitute.org/variant/${id}?dataset=gnomad_r4`, + }, + protvar: { + label: "ProtVar", + urlBuilder: (id, { chromosome, position, referenceAllele, alternateAllele }) => ( + `https://www.ebi.ac.uk/ProtVar/query?chromosome=${chromosome + }&genomic_position=${position + }&reference_allele=${referenceAllele + }&alternative_allele=${alternateAllele}` + ), + }, + clinvar: { + label: "ClinVar", + urlStem: "https://www.ncbi.nlm.nih.gov/clinvar/variation/", + }, + omim: { + label: "OMIM", + urlStem: "https://www.omim.org/entry/", + }, +}; + +function processXRefs(dbXRefs) { + const xrefs = {}; + for (const { id, source } of dbXRefs) { + const { label, urlBuilder, urlStem } = xrefsToDisplay[source]; + if (xrefs[source]) { + xrefs[source].ids.add(id); + } else { + xrefs[source] = { + label, + urlStem, + urlBuilder, + ids: new Set([id]), + }; + } + } + return xrefs; +} type HeaderProps = { loading: boolean; - metadata: MetadataType; -} + variantId: string; + variantPageData: VariantPageDataType; +}; + +function Header({ loading, variantId, variantPageData }: HeaderProps) { -function Header({ loading, metadata }: HeaderProps) { - const { - variantId, - rsIds, - chromosome, - position, - referenceAllele, - alternateAllele, - } = metadata; - const rsId = rsIds[0]; - const gnomadId = `${ - chromosome}-${ - position}-${ - referenceAllele}-${ - alternateAllele}`; + const xrefs = processXRefs(variantPageData?.dbXrefs || []); return ( } Icon={faMapPin} externalLinks={ <> - - + {Object.keys(xrefs).map(xref => { + const { label, urlBuilder, urlStem, ids } = xrefs[xref]; + return ( + urlBuilder(id, variantPageData)) : null} + ids={[...ids]} + limit="3" + /> + ); + })} } /> diff --git a/apps/platform/src/pages/VariantPage/Profile.tsx b/apps/platform/src/pages/VariantPage/Profile.tsx new file mode 100644 index 000000000..e9f5e5346 --- /dev/null +++ b/apps/platform/src/pages/VariantPage/Profile.tsx @@ -0,0 +1,119 @@ +import { Suspense, lazy } from "react"; +import { gql } from "@apollo/client"; +import { + PlatformApiProvider, + SectionContainer, + SummaryContainer, + SectionLoader, + summaryUtils, +} from "ui"; + +import PharmacogenomicsSummary from "sections/src/variant/Pharmacogenomics/Summary"; +import InSilicoPredictorsSummary from "sections/src/variant/InSilicoPredictors/Summary"; +import VariantEffectPredictorSummary from "sections/src/variant/VariantEffectPredictor/Summary"; +import EVASummary from "sections/src/variant/EVA/Summary"; +import UniProtVariantsSummary from "sections/src/variant/UniProtVariants/Summary"; +import GWASCredibleSetsSummary from "sections/src/variant/GWASCredibleSets/Summary"; +import QTLCredibleSetsSummary from "sections/src/variant/QTLCredibleSets/Summary"; + +import client from "../../client"; +import ProfileHeader from "./ProfileHeader"; +const PharmacogenomicsSection = lazy( + () => import("sections/src/variant/Pharmacogenomics/Body") +); +const InSilicoPredictorsSection = lazy( + () => import("sections/src/variant/InSilicoPredictors/Body") +); +const VariantEffectPredictorSection = lazy( + () => import("sections/src/variant/VariantEffectPredictor/Body") +); +const EVASection = lazy(() => import("sections/src/variant/EVA/Body")); +const UniProtVariantsSection = lazy( + () => import("sections/src/variant/UniProtVariants/Body") +); +const GWASCredibleSetsSection = lazy( + () => import("sections/src/variant/GWASCredibleSets/Body") +); +const QTLCredibleSetsSection = lazy( + () => import("sections/src/variant/QTLCredibleSets/Body") +); + +const summaries = [ + PharmacogenomicsSummary, + InSilicoPredictorsSummary, + VariantEffectPredictorSummary, + EVASummary, + UniProtVariantsSummary, + GWASCredibleSetsSummary, + QTLCredibleSetsSummary, +]; + +const VARIANT = "variant"; +const VARIANT_PROFILE_SUMMARY_FRAGMENT = summaryUtils.createSummaryFragment( + summaries, + "Variant" +); +const VARIANT_PROFILE_QUERY = gql` + query VariantProfileQuery($variantId: String!) { + variant(variantId: $variantId) { + id + ...VariantProfileHeaderFragment + ...VariantProfileSummaryFragment + } + } + ${ProfileHeader.fragments.profileHeader} + ${VARIANT_PROFILE_SUMMARY_FRAGMENT} +`; + +type ProfileProps = { + varId: string; +}; + +function Profile({ varId }: ProfileProps) { + return ( + + + + + + + + + + + + + + + }> + + + }> + + + }> + + + }> + + + }> + + + }> + + + }> + + + + + ); +} + +export default Profile; diff --git a/apps/platform/src/pages/VariantPage/ProfileHeader.gql b/apps/platform/src/pages/VariantPage/ProfileHeader.gql new file mode 100644 index 000000000..2c743a750 --- /dev/null +++ b/apps/platform/src/pages/VariantPage/ProfileHeader.gql @@ -0,0 +1,14 @@ +fragment VariantProfileHeaderFragment on Variant { + chromosome + position + referenceAllele + alternateAllele + alleleFrequencies { + populationName + alleleFrequency + } + mostSevereConsequence { + id + label + } +} diff --git a/apps/platform/src/pages/VariantPage/ProfileHeader.tsx b/apps/platform/src/pages/VariantPage/ProfileHeader.tsx new file mode 100644 index 000000000..c2feb76fa --- /dev/null +++ b/apps/platform/src/pages/VariantPage/ProfileHeader.tsx @@ -0,0 +1,171 @@ +// import { useState, useEffect } from "react"; +import { + usePlatformApi, + Field, + ProfileHeader as BaseProfileHeader, + Link, + LongText, +} from "ui"; +import { Box, Typography, Skeleton } from "@mui/material"; +import { identifiersOrgLink } from "../../utils/global"; + +import VARIANT_PROFILE_HEADER_FRAGMENT from "./ProfileHeader.gql"; + + +function ProfileHeader() { + + const { loading, error, data } = usePlatformApi(); + + // TODO: Errors! + if (error) return null; + + return ( + + + + Location + + {data?.variant.chromosome}:{data?.variant.position} + + + + Variant Effect Predictor (VEP) + + + {data?.variant.mostSevereConsequence.label.replace(/_/g, ' ')} + + + + + {data?.variant.alleleFrequencies.length > 0 && + + Population Allele Frequencies + + + } + + + ) +} + +ProfileHeader.fragments = { + profileHeader: VARIANT_PROFILE_HEADER_FRAGMENT, +}; + +export default ProfileHeader; + + +// ====== +// allele +// ====== + +type AlleleProps = { + loading: boolean; + label: string; + value: string; +}; + +function Allele({ loading, label, value }: AlleleProps) { + + if (loading) return ; + + return value?.length >= 15 + ? <> + {label} + + + {value} + + + + : + {value} + + +} + + +// ===================== +// allele frequency plot +// ===================== + +const populationLabels = { + afr_adj: "African-American", + amr_adj: "American Admixed/Latino", + asj_adj: "Ashkenazi Jewish", + eas_adj: "East Asian", + fin_adj: "Finnish", + nfe_adj: "Non-Finnish European", + ami_adj: "Amish", // from https://www.pharmgkb.org/variant/PA166175994 + mid_adj: "Middle Eastern", // guessed from: https://gnomad.broadinstitute.org/variant/1-154453788-C-T?dataset=gnomad_r4 + sas_adj: "South Asian", // from https://www.pharmgkb.org/variant/PA166175994 + remaining_adj: 'Other', +}; + + +function AlleleFrequencyPlot({ data }) { + + let orderOfMag = -2; + for (const { alleleFrequency } of data) { + if (alleleFrequency > 0 && alleleFrequency < 1) { + orderOfMag = Math.min( + orderOfMag, + Math.floor(Math.log10(alleleFrequency)) + ) + } + } + const dps = Math.min(6, -orderOfMag + 1); + + // sort rows alphabetically on population label - but put "other" last + const rows = data.map(({ populationName, alleleFrequency }) => ({ + label: populationLabels[populationName], + alleleFrequency, + })).sort((a, b) => a.label < b.label ? -1 : 1); + rows.push(rows.splice(rows.findIndex(r => r.label === 'Other'), 1)[0]); + + return( + + {rows.map(row => ( + + ))} + + ); +} + +function BarGroup({ dataRow: { label, alleleFrequency }, dps }) { + return ( + + + {label} + + theme.palette.grey[300], + height: "9px" + }}> + + + + { alleleFrequency === 0 ? 0 : alleleFrequency.toFixed(dps) } + + + ); +} \ No newline at end of file diff --git a/apps/platform/src/pages/VariantPage/VariantPage.gql b/apps/platform/src/pages/VariantPage/VariantPage.gql new file mode 100644 index 000000000..8580d3882 --- /dev/null +++ b/apps/platform/src/pages/VariantPage/VariantPage.gql @@ -0,0 +1,13 @@ +query VariantPageQuery($variantId: String!) { + variant(variantId: $variantId) { + id + dbXrefs { + id + source + } + chromosome + position + referenceAllele + alternateAllele + } +} diff --git a/apps/platform/src/pages/VariantPage/VariantPage.tsx b/apps/platform/src/pages/VariantPage/VariantPage.tsx index bb26f5183..02ae6d28b 100644 --- a/apps/platform/src/pages/VariantPage/VariantPage.tsx +++ b/apps/platform/src/pages/VariantPage/VariantPage.tsx @@ -1,35 +1,23 @@ - -import { useState, useEffect } from "react"; -import { useLocation, useParams } from "react-router-dom"; -import { BasePage } from "ui"; +import { useQuery } from "@apollo/client"; +import { useLocation, useParams, Switch, Route, useRouteMatch, Link } from "react-router-dom"; +import { Box, Tabs, Tab } from "@mui/material"; +import { BasePage, ScrollToTop } from "ui"; import Header from "./Header"; import NotFoundPage from "../NotFoundPage"; -import { MetadataType } from "./types"; - -// const Profile = lazy(() => import("./Profile")); +import VARIANT_PAGE_QUERY from "./VariantPage.gql"; +import Profile from "./Profile"; function VariantPage() { const location = useLocation(); const { varId } = useParams() as { varId: string }; - const [metadata, setMetadata] = - useState('waiting'); - - // temp: loading is set by useQuery, set to false for now - const loading = false; + const { path } = useRouteMatch(); - // temp: data will come from gql, fetch local json file for now - useEffect(() => { - fetch('../data/variant-data-2.json') - .then(response => response.json()) - .then((allData: MetadataType[]) => - setMetadata(allData.find(v => v.variantId === varId))); - }, []); + const { loading, data } = useQuery(VARIANT_PAGE_QUERY, { + variables: { variantId: varId }, + }); - // temp: revisit this (use same as other pages) once using gql to get data - if (!metadata) { + if (data && !data.variant) { return ; - } else if (metadata === 'waiting') { - return Waiting; } return ( @@ -38,9 +26,31 @@ function VariantPage() { description={`Annotation information for ${varId}`} location={location} > -
+
+ + ( + + + Profile} + value={`/variant/${varId}`} + component={Link} + to={`/variant/${varId}`} + /> + + + )} + /> + + + + + + ); } -export default VariantPage; \ No newline at end of file +export default VariantPage; diff --git a/apps/platform/src/pages/VariantPage/index.js b/apps/platform/src/pages/VariantPage/index.js deleted file mode 100644 index 8c8d16086..000000000 --- a/apps/platform/src/pages/VariantPage/index.js +++ /dev/null @@ -1,2 +0,0 @@ -// export { default } from "./VariantPage"; -export {default} from "./VariantPage" diff --git a/apps/platform/src/pages/VariantPage/index.ts b/apps/platform/src/pages/VariantPage/index.ts new file mode 100644 index 000000000..88b3b52cc --- /dev/null +++ b/apps/platform/src/pages/VariantPage/index.ts @@ -0,0 +1 @@ +export { default } from "./VariantPage"; diff --git a/apps/platform/src/pages/VariantPage/types.ts b/apps/platform/src/pages/VariantPage/types.ts index d398d0782..642e88202 100644 --- a/apps/platform/src/pages/VariantPage/types.ts +++ b/apps/platform/src/pages/VariantPage/types.ts @@ -1,4 +1,26 @@ -type AlleleFrequencyType = { +// =========== +// VariantPage +// =========== + +export type VariantPageDataType = { + variantId: string; + dbXrefs?: [ + { + id: string, + source: number, + } + ]; + chromosome: string; + position: number; + referenceAllele: string; + alternateAllele: string; +}; + +// ======== +// Metadata +// ======== + +export type AlleleFrequencyType = { populationName: string; alleleFrequency: number; }; @@ -12,6 +34,19 @@ type VepType = { }[]; }; +export type InSilicoPredictorsType = { + cadd?: { + phred: number; + raw: number; + }; + revelMax?: number; + spliceaiDsMax?: number; + pangolinLargestDs?: number; + phylop?: number; + siftMax?: number; + polyphenMax?: number; +}; + export type MetadataType = { variantId: string, chromosome: string, @@ -24,16 +59,118 @@ export type MetadataType = { alleleType: string; alleleFrequencies: AlleleFrequencyType[]; vep: VepType; - inSilicoPredictors: { - cadd?: { - phred: number; - raw: number; - }; - revelMax?: number; - spliceaiDsMax?: number; - pangolinLargestDs?: number; - phylop?: number; - siftMax?: number; - polyphenMax?: number; - }; -}; \ No newline at end of file +}; + +// ================== +// InSilicoPredictors +// ================== + +export type InSilicoPredictorsType = { + [index: number]: { + method: string, + assesessment?: string, + flag?: string, + score?: number, + } +}; + +// ======= +// ClinVar +// ======= + +export type ClinVarType = { + alleleOrigins: string[], + alleleRequirements: string[], + approvedSymbol: string, + clinicalSignificances: string[], + cohortPhenotypes: string[], + confidence: string, + directionOnTrait: "risk", + "disease.id": string, + "disease.name": string, + diseaseFromSource: string, + diseaseId: string, + diseaseName: string, + literature: string[], + studyId: string, + targetId: string, + variantId: string, +}; + +// =============== +// UniProtVariants +// =============== + +export type UniProtVariantsType = { + variantId: string, + confidence: string, + diseaseFromSource: string, + literature: string[], + targetFromSourceId: string, + "target.id": string, + "target.approvedSymbol": string, + "disease.id": string, + "disease.name": string, +}; + +// ================== +// GWAS Credible Sets +// ================== + +export type GWASCredibleSets = { + variantId: string, + study: { + id: string, + traitFromSource: string, + disease: { + id: string, + name: string, + } + }, + pValueMantissa: number, + pValueExponent: number, + beta: number, + ldPopulationStructure: [ + { + ldPopulation: string, + relativeSampleSize: number, + } + ], + finemappingMethod: string, + l2g: { + score: string, + target: { + id: string, + approvedSymbol: string, + } + }, + locus: [ + { + variantId: string, + r2Overall: number, + posteriorProbability: number, + standardError: number, + is95CredibleSet: boolean, + is99CredibleSet: boolean, + } + ] +}; + +// ================ +// Pharmacogenomics +// ================ + +export type PharmacogenomicsType = { + genotypeId: string, + isDirectTarget: boolean, + drugFromSource: string, + drugId: string, + phenotypeFromSourceId: string | null, + genotypeAnnotationText: string, + phenotypeText: string, + pgxCategory: string, + evidenceLevel: string, + datasourceId: string, + studyId: string, + literature: string[], +}; diff --git a/apps/platform/src/possibleTypes.json b/apps/platform/src/possibleTypes.json index 4276fdc50..bffbec1f7 100644 --- a/apps/platform/src/possibleTypes.json +++ b/apps/platform/src/possibleTypes.json @@ -1 +1 @@ -{"EntityUnionType":["Target","Drug","Disease"]} \ No newline at end of file +{"EntityUnionType":["Target", "Drug", "Disease", "Variant", "Gwas"]} \ No newline at end of file diff --git a/apps/platform/src/sections/variantSections.js b/apps/platform/src/sections/variantSections.js new file mode 100644 index 000000000..6332e4972 --- /dev/null +++ b/apps/platform/src/sections/variantSections.js @@ -0,0 +1,7 @@ +import { lazy } from "react"; + +const variantSections = new Map([ + ["eva", lazy(() => import("sections/src/evidence/EVA/Body"))], +]); + +export default variantSections; diff --git a/apps/platform/src/utils/global.js b/apps/platform/src/utils/global.js index b1550d45a..466b2582d 100644 --- a/apps/platform/src/utils/global.js +++ b/apps/platform/src/utils/global.js @@ -2,13 +2,13 @@ import { format } from "d3-format"; import config from "../config"; import { searchExamples, pppSearchExamples } from "../pages/HomePage/searchExamples"; -function pickTwo([...arr]) { - const i1 = Math.floor(Math.random() * arr.length); - const resultArray = arr.splice(i1, 1); - const i2 = Math.floor(Math.random() * arr.length); - resultArray.push(...arr.splice(i2, 1)); - - return resultArray; +function pickN([...arr], n) { + const picks = []; + while (picks.length < n) { + const i = Math.floor(Math.random() * arr.length); + picks.push(arr.splice(i, 1)[0]); + } + return picks; } export const safeToString = x => { @@ -74,9 +74,9 @@ export async function fetcher(graphQLParams) { export function getSuggestedSearch() { const suggestionArray = config.profile.isPartnerPreview ? pppSearchExamples : searchExamples; - const targets = pickTwo(suggestionArray.targets); - const diseases = pickTwo(suggestionArray.diseases); - const drugs = pickTwo(suggestionArray.drugs); - - return [...targets, ...diseases, ...drugs]; + const targets = pickN(suggestionArray.targets, 2); + const diseases = pickN(suggestionArray.diseases, 2); + const drugs = pickN(suggestionArray.drugs, 2); + const variants = pickN(suggestionArray.variants, 3); + return [...targets, ...diseases, ...drugs, ...variants]; } diff --git a/packages/sections/src/credibleSet/GWASColoc/Body.tsx b/packages/sections/src/credibleSet/GWASColoc/Body.tsx new file mode 100644 index 000000000..401811daf --- /dev/null +++ b/packages/sections/src/credibleSet/GWASColoc/Body.tsx @@ -0,0 +1,193 @@ +import { useQuery } from "@apollo/client"; +import { Link, SectionItem, DisplayVariantId, ScientificNotation, OtTable } from "ui"; +import { naLabel } from "../../constants"; +import { definition } from "."; +import Description from "./Description"; +import GWAS_COLOC_QUERY from "./GWASColocQuery.gql"; +import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; +import { getStudyCategory } from "../../utils/getStudyCategory"; + +const columns = [ + { + id: "view", + label: "Details", + renderCell: ({ otherStudyLocus }) => { + if (!otherStudyLocus) return naLabel; + return view; + }, + filterValue: false, + exportValue: false, + }, + { + id: "otherStudyLocus.study.studyId", + label: "Study ID", + renderCell: ({ otherStudyLocus }) => { + const studyId = otherStudyLocus?.study?.studyId; + if (!studyId) return naLabel; + return {studyId}; + }, + }, + { + id: "otherStudyLocus.study.traitFromSource", + label: "Trait", + renderCell: ({ otherStudyLocus }) => { + const trait = otherStudyLocus?.study?.traitFromSource; + if (!trait) return naLabel; + return trait; + }, + }, + { + id: "otherStudyLocus.study.publicationFirstAuthor", + label: "Author", + renderCell: ({ otherStudyLocus }) => { + const { projectId, publicationFirstAuthor } = otherStudyLocus?.study || {}; + return getStudyCategory(projectId) === "FINNGEN" + ? "FinnGen" + : publicationFirstAuthor || naLabel; + }, + exportValue: ({ otherStudyLocus }) => { + const { projectId, publicationFirstAuthor } = otherStudyLocus.study || {}; + getStudyCategory(projectId) === "FINNGEN" ? "FinnGen" : publicationFirstAuthor; + }, + }, + { + id: "otherStudyLocus.variant.id", + label: "Lead Variant", + comparator: variantComparator, + sortable: true, + filterValue: ({ otherStudyLocus }) => { + const v = otherStudyLocus?.variant; + return `${v?.chromosome}_${v?.position}_${v?.referenceAllele}_${v?.alternateAllele}`; + }, + renderCell: ({ otherStudyLocus }) => { + if (!otherStudyLocus?.variant) return naLabel; + const { id: variantId, referenceAllele, alternateAllele } = otherStudyLocus.variant; + return ( + + + + ); + }, + exportValue: ({ otherStudyLocus }) => otherStudyLocus?.variant?.id, + }, + { + id: "pValue", + label: "P-Value", + comparator: ({ otherStudyLocus: a }, { otherStudyLocus: b }) => + mantissaExponentComparator( + a?.pValueMantissa, + a?.pValueExponent, + b?.pValueMantissa, + b?.pValueExponent + ), + sortable: true, + filterValue: false, + renderCell: ({ otherStudyLocus }) => { + const { pValueMantissa, pValueExponent } = otherStudyLocus ?? {}; + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return naLabel; + return ; + }, + exportValue: ({ otherStudyLocus }) => { + const { pValueMantissa, pValueExponent } = otherStudyLocus ?? {}; + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return null; + return `${pValueMantissa}x10${pValueExponent}`; + }, + }, + { + id: "numberColocalisingVariants", + label: "Colocalising Variants (n)", + filterValue: false, + comparator: (a, b) => a?.numberColocalisingVariants - b?.numberColocalisingVariants, + sortable: true, + }, + { + id: "colocalisationMethod", + label: "Colocalisation Method", + }, + { + id: "h3", + label: "H3", + tooltip: ( + <> + Posterior probability that the signals do not colocalise + + ), + filterValue: false, + comparator: (a, b) => a?.h3 - b?.h3, + sortable: true, + renderCell: ({ h3 }) => { + if (typeof h3 !== "number") return naLabel; + return h3.toPrecision(3); + }, + }, + { + id: "h4", + label: "H4", + tooltip: "Posterior probability that the signals colocalise", + filterValue: false, + comparator: (a, b) => a?.h4 - b?.h4, + sortable: true, + renderCell: ({ h4 }) => { + if (typeof h4 !== "number") return naLabel; + return h4.toPrecision(3); + }, + }, + { + id: "clpp", + label: "CLPP", + filterValue: false, + comparator: (a, b) => a?.clpp - b?.clpp, + sortable: true, + renderCell: ({ clpp }) => { + if (typeof clpp !== "number") return naLabel; + return clpp.toPrecision(3); + }, + }, +]; + +type BodyProps = { + studyLocusId: string; + entity: string; +}; + +function Body({ studyLocusId, entity }: BodyProps) { + const variables = { + studyLocusIds: [studyLocusId], + }; + + const request = useQuery(GWAS_COLOC_QUERY, { + variables, + }); + + return ( + } + renderBody={() => { + return ( + + ); + }} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/credibleSet/GWASColoc/Description.tsx b/packages/sections/src/credibleSet/GWASColoc/Description.tsx new file mode 100644 index 000000000..7ffb70ecf --- /dev/null +++ b/packages/sections/src/credibleSet/GWASColoc/Description.tsx @@ -0,0 +1,14 @@ +import { Link } from "ui"; + +function Description() { + return ( + <> + GWAS studies that colocalise with this credible set. Source:{" "} + + Open Targets + + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/credibleSet/GWASColoc/GWASColocQuery.gql b/packages/sections/src/credibleSet/GWASColoc/GWASColocQuery.gql new file mode 100644 index 000000000..40cb68f29 --- /dev/null +++ b/packages/sections/src/credibleSet/GWASColoc/GWASColocQuery.gql @@ -0,0 +1,29 @@ +query GWASColocQuery($studyLocusIds: [String!]!) { + credibleSets(studyLocusIds: $studyLocusIds) { + colocalisation(studyTypes: [gwas], page: { size: 250, index: 0 }) { + otherStudyLocus { + studyLocusId + study { + studyId + projectId + traitFromSource + publicationFirstAuthor + } + variant { + id + chromosome + position + referenceAllele + alternateAllele + } + pValueMantissa + pValueExponent + } + numberColocalisingVariants + colocalisationMethod + h3 + h4 + clpp + } + } +} \ No newline at end of file diff --git a/packages/sections/src/credibleSet/GWASColoc/GWASColocSummaryFragment.gql b/packages/sections/src/credibleSet/GWASColoc/GWASColocSummaryFragment.gql new file mode 100644 index 000000000..daf3f7f67 --- /dev/null +++ b/packages/sections/src/credibleSet/GWASColoc/GWASColocSummaryFragment.gql @@ -0,0 +1,5 @@ +fragment GWASColocSummaryFragment on credibleSet { + colocalisation(studyTypes: [gwas], page: { size: 1, index: 0 }) { + colocalisationMethod + } +} \ No newline at end of file diff --git a/packages/sections/src/credibleSet/GWASColoc/Summary.tsx b/packages/sections/src/credibleSet/GWASColoc/Summary.tsx new file mode 100644 index 000000000..9db6cc0e1 --- /dev/null +++ b/packages/sections/src/credibleSet/GWASColoc/Summary.tsx @@ -0,0 +1,16 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import GWAS_COLOC_SUMMARY from "./GWASColocSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(GWAS_COLOC_SUMMARY); + + return ; +} + +Summary.fragments = { + GWASColocSummaryFragment: GWAS_COLOC_SUMMARY, +}; + +export default Summary; \ No newline at end of file diff --git a/packages/sections/src/credibleSet/GWASColoc/index.ts b/packages/sections/src/credibleSet/GWASColoc/index.ts new file mode 100644 index 000000000..880614185 --- /dev/null +++ b/packages/sections/src/credibleSet/GWASColoc/index.ts @@ -0,0 +1,7 @@ +const id = "gwas_coloc"; +export const definition = { + id, + name: "GWAS Colocalisation", + shortName: "GC", + hasData: data => data?.[0]?.colocalisation?.length > 0, +}; \ No newline at end of file diff --git a/packages/sections/src/credibleSet/Variants/Body.tsx b/packages/sections/src/credibleSet/Variants/Body.tsx new file mode 100644 index 000000000..1b5e4aa59 --- /dev/null +++ b/packages/sections/src/credibleSet/Variants/Body.tsx @@ -0,0 +1,193 @@ +import { useQuery } from "@apollo/client"; +import { Box, Chip } from "@mui/material"; +import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable } from "ui"; +import { naLabel } from "../../constants"; +import { definition } from "."; +import Description from "./Description"; +import VARIANTS_QUERY from "./VariantsQuery.gql"; +import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; + +type getColumnsType = { + leadVariantId: string; + leadReferenceAllele: string; + leadAlternateAllele: string; +}; + +function getColumns({ leadVariantId, leadReferenceAllele, leadAlternateAllele }: getColumnsType) { + return [ + { + id: "variant.id", + label: "Variant ID", + comparator: variantComparator, + sortable: true, + filterValue: ({ variant: v }) => + `${v?.chromosome}_${v?.position}_${v?.referenceAllele}_${v?.alternateAllele}`, + renderCell: ({ variant }) => { + if (!variant) return naLabel; + const { id: variantId, referenceAllele, alternateAllele } = variant; + const displayElement = ( + + + + ); + if (variantId === leadVariantId) { + return ( + + {displayElement} + + + ); + } + return displayElement; + }, + exportValue: ({ variant }) => variant?.id, + }, + { + id: "pValue", + label: "P-value", + comparator: (a, b) => + mantissaExponentComparator( + a?.pValueMantissa, + a?.pValueExponent, + b?.pValueMantissa, + b?.pValueExponent + ), + sortable: true, + filterValue: false, + renderCell: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") + return naLabel; + return ; + }, + exportValue: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return null; + return `${pValueMantissa}x10${pValueExponent}`; + }, + }, + { + id: "beta", + label: "Beta", + filterValue: false, + tooltip: "Beta with respect to the ALT allele", + renderCell: ({ beta }) => { + if (typeof beta !== "number") return naLabel; + return beta.toPrecision(3); + }, + }, + { + id: "standardError", + label: "Standard error", + filterValue: false, + tooltip: + "Standard Error: Estimate of the standard deviation of the sampling distribution of the beta", + renderCell: ({ standardError }) => { + if (typeof standardError !== "number") return naLabel; + return standardError.toPrecision(3); + }, + }, + { + id: "r2Overall", + label: "LD (r²)", + filterValue: false, + tooltip: ( + <> + Linkage disequilibrium with the lead variant ( + + ) + + ), + renderCell: ({ r2Overall }) => { + if (typeof r2Overall !== "number") return naLabel; + return r2Overall.toPrecision(3); + }, + }, + { + id: "posteriorProbability", + label: "Posterior Probability", + filterValue: false, + tooltip: "Posterior inclusion probability from fine-mapping that this variant is causal", + comparator: (rowA, rowB) => rowA?.posteriorProbability - rowB?.posteriorProbability, + sortable: true, + renderCell: ({ posteriorProbability }) => { + if (typeof posteriorProbability !== "number") return naLabel; + return posteriorProbability.toPrecision(3); + }, + }, + { + id: "logBF", + label: "LOG(BF)", + filterValue: false, + renderCell: ({ logBF }) => { + if (typeof logBF !== "number") return naLabel; + return logBF.toPrecision(3); + }, + }, + ]; +} + +type BodyProps = { + studyLocusId: string; + leadVariantId: string; + leadReferenceAllele: string; + leadAlternateAllele: string; + entity: string; +}; + +function Body({ + studyLocusId, + leadVariantId, + leadReferenceAllele, + leadAlternateAllele, + entity, +}: BodyProps) { + const variables = { + studyLocusIds: [studyLocusId], + }; + + const request = useQuery(VARIANTS_QUERY, { + variables, + }); + + const columns = getColumns({ + leadVariantId, + leadReferenceAllele, + leadAlternateAllele, + }); + + return ( + } + renderBody={() => { + return ( + + ); + }} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/credibleSet/Variants/Description.tsx b/packages/sections/src/credibleSet/Variants/Description.tsx new file mode 100644 index 000000000..7c1b8f69a --- /dev/null +++ b/packages/sections/src/credibleSet/Variants/Description.tsx @@ -0,0 +1,14 @@ +import { Link } from "ui"; + +function Description() { + return ( + <> + Source:{" "} + + Open Targets + + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/credibleSet/Variants/Summary.tsx b/packages/sections/src/credibleSet/Variants/Summary.tsx new file mode 100644 index 000000000..871af4c38 --- /dev/null +++ b/packages/sections/src/credibleSet/Variants/Summary.tsx @@ -0,0 +1,16 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import VARIANTS_SUMMARY from "./VariantsSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(VARIANTS_SUMMARY); + + return ; +} + +Summary.fragments = { + VariantsSummaryFragment: VARIANTS_SUMMARY, +}; + +export default Summary; \ No newline at end of file diff --git a/packages/sections/src/credibleSet/Variants/VariantsQuery.gql b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql new file mode 100644 index 000000000..2d15058a8 --- /dev/null +++ b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql @@ -0,0 +1,21 @@ +query VariantsQuery($studyLocusIds: [String!]!) { + credibleSets(studyLocusIds: $studyLocusIds) { + studyLocusId + locus { + logBF + posteriorProbability + variant { + id + chromosome + position + referenceAllele + alternateAllele + } + pValueMantissa + pValueExponent + beta + standardError + r2Overall + } + } +} \ No newline at end of file diff --git a/packages/sections/src/credibleSet/Variants/VariantsSummaryFragment.gql b/packages/sections/src/credibleSet/Variants/VariantsSummaryFragment.gql new file mode 100644 index 000000000..55d6fbeb4 --- /dev/null +++ b/packages/sections/src/credibleSet/Variants/VariantsSummaryFragment.gql @@ -0,0 +1,5 @@ +fragment VariantsSummaryFragment on credibleSet { + locus { + beta + } +} \ No newline at end of file diff --git a/packages/sections/src/credibleSet/Variants/index.ts b/packages/sections/src/credibleSet/Variants/index.ts new file mode 100644 index 000000000..cf5933ced --- /dev/null +++ b/packages/sections/src/credibleSet/Variants/index.ts @@ -0,0 +1,7 @@ +const id = "variants"; +export const definition = { + id, + name: "Variants in Credible Set", + shortName: "VA", + hasData: data => data?.[0]?.locus?.length > 0, +}; \ No newline at end of file diff --git a/packages/sections/src/disease/GWASStudies/Body.tsx b/packages/sections/src/disease/GWASStudies/Body.tsx new file mode 100644 index 000000000..ebf0fcf51 --- /dev/null +++ b/packages/sections/src/disease/GWASStudies/Body.tsx @@ -0,0 +1,143 @@ +import { useQuery } from "@apollo/client"; +import { Box, Typography } from "@mui/material"; +import { Link, SectionItem, Tooltip, PublicationsDrawer, OtTable } from "ui"; +import Description from "./Description"; +import { naLabel } from "../../constants"; +import { getStudyCategory } from "../../utils/getStudyCategory"; +import GWAS_STUDIES_BODY_QUERY from "./GWASStudiesQuery.gql"; +import { definition } from "."; +import { epmcUrl } from "ui/src/utils/urls"; + +const columns = [ + { + id: "studyId", + label: "Study ID", + renderCell: ({ studyId }) => {studyId}, + }, + { + id: "traitFromSource", + label: "Trait from source", + }, + { + id: "publicationFirstAuthor", + label: "Author", + renderCell: ({ projectId, publicationFirstAuthor }) => + getStudyCategory(projectId) === "FINNGEN" ? "FinnGen" : publicationFirstAuthor || naLabel, + }, + { + id: "publicationDate", + label: "Date", + renderCell: ({ projectId, publicationDate }) => + getStudyCategory(projectId) === "FINNGEN" + ? "2023" + : publicationDate + ? publicationDate.slice(0, 4) + : naLabel, + exportValue: ({ projectId, publicationDate }) => + getStudyCategory(projectId) === "FINNGEN" ? "2023" : publicationDate?.slice(0, 4), + }, + { + id: "publicationJournal", + label: "Journal", + renderCell: ({ projectId, publicationJournal }) => + getStudyCategory(projectId) === "FINNGEN" ? naLabel : publicationJournal || naLabel, + exportValue: ({ projectId, publicationJournal }) => + getStudyCategory(projectId) === "FINNGEN" ? null : publicationJournal, + }, + { + id: "nSamples", + label: "Sample size", + comparator: (a, b) => a?.nSamples - b?.nSamples, + sortable: true, + }, + { + id: "cohorts", + label: "Cohorts", + renderCell: ({ projectId, cohorts, ldPopulationStructure }) => { + let displayText; + if (getStudyCategory(projectId) === "FINNGEN") displayText = "FinnGen"; + else if (cohorts?.length) displayText = cohorts.join(", "); + else return naLabel; + return ldPopulationStructure?.length ? ( + + + LD populations and relative sample sizes + + {ldPopulationStructure.map(({ ldPopulation, relativeSampleSize }) => ( + + + {ldPopulation}: {relativeSampleSize} + + + ))} + + } + showHelpIcon + > + {displayText} + + ) : ( + displayText + ); + }, + exportValue: ({ projectId, cohorts }) => + getStudyCategory(projectId) === "FINNGEN" + ? "FinnGen" + : cohorts?.length + ? cohorts.join(", ") + : null, + }, + { + id: "pubmedId", + label: "PubMed ID", + renderCell: ({ projectId, pubmedId }) => + getStudyCategory(projectId) === "GWAS" && pubmedId ? ( + + ) : ( + naLabel + ), + exportValue: ({ projectId, pubmedId }) => + getStudyCategory(projectId) === "GWAS" && pubmedId ? pubmedId : null, + }, +]; + +type BodyProps = { + id: string; + label: string; +}; + +function Body({ id: efoId, label: diseaseName }: BodyProps) { + const variables = { + diseaseIds: [efoId], + }; + + const request = useQuery(GWAS_STUDIES_BODY_QUERY, { + variables, + }); + + return ( + } + renderBody={() => ( + + )} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/disease/GWASStudies/Description.tsx b/packages/sections/src/disease/GWASStudies/Description.tsx new file mode 100644 index 000000000..d2bc6e3f2 --- /dev/null +++ b/packages/sections/src/disease/GWASStudies/Description.tsx @@ -0,0 +1,19 @@ +import { Link } from "ui"; + +function Description({ name }) { + return ( + <> + GWAS studies associated with {name}. Source:{" "} + + GWAS Catalog + + ,{" "} + + FinnGen + + . + + ); +} + +export default Description; diff --git a/packages/sections/src/disease/GWASStudies/GWASStudiesQuery.gql b/packages/sections/src/disease/GWASStudies/GWASStudiesQuery.gql new file mode 100644 index 000000000..9327af372 --- /dev/null +++ b/packages/sections/src/disease/GWASStudies/GWASStudiesQuery.gql @@ -0,0 +1,17 @@ +query GWASStudiesQuery($diseaseIds: [String!]!) { + gwasStudy(diseaseIds: $diseaseIds, page: { size: 2000, index: 0}) { + studyId + projectId + traitFromSource + publicationFirstAuthor + publicationDate + publicationJournal + nSamples + cohorts + pubmedId + ldPopulationStructure { + ldPopulation + relativeSampleSize + } + } +} \ No newline at end of file diff --git a/packages/sections/src/disease/GWASStudies/Summary.tsx b/packages/sections/src/disease/GWASStudies/Summary.tsx new file mode 100644 index 000000000..7a1146bc1 --- /dev/null +++ b/packages/sections/src/disease/GWASStudies/Summary.tsx @@ -0,0 +1,11 @@ +import { usePlatformApi, SummaryItem } from "ui"; + +import { definition } from "."; + +function Summary() { + const request = usePlatformApi(); + + return ; +} + +export default Summary; diff --git a/packages/sections/src/disease/GWASStudies/index.ts b/packages/sections/src/disease/GWASStudies/index.ts new file mode 100644 index 000000000..846d0b4bb --- /dev/null +++ b/packages/sections/src/disease/GWASStudies/index.ts @@ -0,0 +1,9 @@ +export const definition = { + id: "GWASStudies", + name: "GWAS Studies", + shortName: "GS", + hasData: data => ( + data?.gwasStudy?.length > 0 || // summary + data?.length > 0 // section - argument is data.gwasStudy + ), +}; diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx new file mode 100644 index 000000000..be2b3a593 --- /dev/null +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -0,0 +1,147 @@ +import { useQuery } from "@apollo/client"; +import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable } from "ui"; +import { naLabel } from "../../constants"; +import { definition } from "."; +import Description from "./Description"; +import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; +import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; + +const columns = [ + { + id: "view", + label: "Details", + renderCell: ({ studyLocusId }) => view, + filterValue: false, + exportValue: false, + }, + { + id: "leadVariant", + label: "Lead variant", + comparator: variantComparator, + sortable: true, + filterValue: ({ variant: v }) => + `${v?.chromosome}_${v?.position}_${v?.referenceAllele}_${v?.alternateAllele}`, + renderCell: ({ variant }) => { + if (!variant) return naLabel; + const { id: variantId, referenceAllele, alternateAllele } = variant; + return ( + + + + ); + }, + exportValue: ({ variant }) => variant?.id, + }, + { + id: "pValue", + label: "P-value", + comparator: (a, b) => + mantissaExponentComparator( + a?.pValueMantissa, + a?.pValueExponent, + b?.pValueMantissa, + b?.pValueExponent + ), + sortable: true, + filterValue: false, + renderCell: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return naLabel; + return ; + }, + exportValue: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return null; + return `${pValueMantissa}x10${pValueExponent}`; + }, + }, + { + id: "beta", + label: "Beta", + filterValue: false, + tooltip: "Beta with respect to the ALT allele", + renderCell: ({ beta }) => { + if (typeof beta !== "number") return naLabel; + return beta.toPrecision(3); + }, + }, + + { + id: "finemappingMethod", + label: "Finemapping method", + }, + { + id: "topL2G", + label: "Top L2G", + tooltip: "Top gene prioritised by our locus-to-gene model", + filterValue: ({ strongestLocus2gene }) => strongestLocus2gene?.target.approvedSymbol, + renderCell: ({ strongestLocus2gene }) => { + if (!strongestLocus2gene?.target) return naLabel; + const { target } = strongestLocus2gene; + return {target.approvedSymbol}; + }, + exportValue: ({ strongestLocus2gene }) => strongestLocus2gene?.target.approvedSymbol, + }, + { + id: "l2gScore", + label: "L2G score", + comparator: (rowA, rowB) => rowA?.strongestLocus2gene?.score - rowB?.strongestLocus2gene?.score, + sortable: true, + filterValue: false, + renderCell: ({ strongestLocus2gene }) => { + if (typeof strongestLocus2gene?.score !== "number") return naLabel; + return strongestLocus2gene.score.toFixed(3); + }, + exportValue: ({ strongestLocus2gene }) => strongestLocus2gene?.score, + }, + { + id: "credibleSetSize", + label: "Credible set size", + comparator: (a, b) => a.locus?.length - b.locus?.length, + sortable: true, + filterValue: false, + renderCell: ({ locus }) => locus?.length ?? naLabel, + exportValue: ({ locus }) => locus?.length, + }, +]; + +type BodyProps = { + id: string; + entity: string; +}; + +function Body({ id, entity }: BodyProps) { + const variables = { + studyId: id, + }; + + const request = useQuery(GWAS_CREDIBLE_SETS_QUERY, { + variables, + }); + + return ( + } + renderBody={() => ( + + )} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/study/GWASCredibleSets/Description.tsx b/packages/sections/src/study/GWASCredibleSets/Description.tsx new file mode 100644 index 000000000..da9015632 --- /dev/null +++ b/packages/sections/src/study/GWASCredibleSets/Description.tsx @@ -0,0 +1,19 @@ +import { Link } from "ui"; + +type DescriptionProps = { + studyId: string; +}; + +function Description({ studyId }: DescriptionProps) { + return ( + <> + GWAS 99% credible sets associated with study {" "} + {studyId}. Source{" "} + + Open Targets + + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql new file mode 100644 index 000000000..4b6e54200 --- /dev/null +++ b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql @@ -0,0 +1,29 @@ +query GWASCredibleSetsQuery($studyId: String!) { + gwasStudy(studyId: $studyId) { + studyId + credibleSets(page: { size: 2000, index: 0 }) { + studyLocusId + variant { + id + chromosome + position + referenceAllele + alternateAllele + } + pValueMantissa + pValueExponent + beta + locus { + is95CredibleSet + } + finemappingMethod + strongestLocus2gene { + target { + id + approvedSymbol + } + score + } + } + } +} \ No newline at end of file diff --git a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql new file mode 100644 index 000000000..b02663bc8 --- /dev/null +++ b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql @@ -0,0 +1,5 @@ +fragment GWASCredibleSetsSummaryFragment on Gwas { + gwasCredibleSets: credibleSets(page: { size: 1, index: 0 }) { + beta + } +} \ No newline at end of file diff --git a/packages/sections/src/study/GWASCredibleSets/Summary.tsx b/packages/sections/src/study/GWASCredibleSets/Summary.tsx new file mode 100644 index 000000000..dd08a3154 --- /dev/null +++ b/packages/sections/src/study/GWASCredibleSets/Summary.tsx @@ -0,0 +1,16 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import GWAS_CREDIBLE_SETS_SUMMARY from "./GWASCredibleSetsSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(GWAS_CREDIBLE_SETS_SUMMARY); + + return ; +} + +Summary.fragments = { + GWASCredibleSetsSummaryFragment: GWAS_CREDIBLE_SETS_SUMMARY, +}; + +export default Summary; \ No newline at end of file diff --git a/packages/sections/src/study/GWASCredibleSets/index.ts b/packages/sections/src/study/GWASCredibleSets/index.ts new file mode 100644 index 000000000..629cfaffe --- /dev/null +++ b/packages/sections/src/study/GWASCredibleSets/index.ts @@ -0,0 +1,8 @@ +const id = "gwas_credible_sets"; +export const definition = { + id, + name: "GWAS Credible Sets", + shortName: "GW", + hasData: data => data?.[0]?.gwasCredibleSets?.length > 0 || + data?.[0]?.credibleSets?.length > 0, +}; \ No newline at end of file diff --git a/packages/sections/src/study/QTLCredibleSets/Body.tsx b/packages/sections/src/study/QTLCredibleSets/Body.tsx new file mode 100644 index 000000000..f22e321c7 --- /dev/null +++ b/packages/sections/src/study/QTLCredibleSets/Body.tsx @@ -0,0 +1,122 @@ +import { useQuery } from "@apollo/client"; +import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable } from "ui"; +import { naLabel } from "../../constants"; +import { definition } from "."; +import Description from "./Description"; +import QTL_CREDIBLE_SETS_QUERY from "./QTLCredibleSetsQuery.gql"; +import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; + +const columns = [ + { + id: "view", + label: "Details", + renderCell: ({ studyLocusId }) => view, + filterValue: false, + exportValue: false, + }, + { + id: "leadVariant", + label: "Lead variant", + comparator: variantComparator, + sortable: true, + filterValue: ({ variant: v }) => + `${v?.chromosome}_${v?.position}_${v?.referenceAllele}_${v?.alternateAllele}`, + renderCell: ({ variant }) => { + if (!variant) return naLabel; + const { id: variantId, referenceAllele, alternateAllele } = variant; + return ( + + + + ); + }, + exportValue: ({ variant }) => variant?.id, + }, + { + id: "pValue", + label: "P-value", + comparator: (a, b) => + mantissaExponentComparator( + a?.pValueMantissa, + a?.pValueExponent, + b?.pValueMantissa, + b?.pValueExponent + ), + sortable: true, + filterValue: false, + renderCell: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return naLabel; + return ; + }, + exportValue: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return null; + return `${pValueMantissa}x10${pValueExponent}`; + }, + }, + { + id: "beta", + label: "Beta", + filterValue: false, + tooltip: "Beta with respect to the ALT allele", + renderCell: ({ beta }) => { + if (typeof beta !== "number") return naLabel; + return beta.toPrecision(3); + }, + }, + { + id: "finemappingMethod", + label: "Finemapping method", + }, + { + id: "credibleSetSize", + label: "Credible set size", + comparator: (a, b) => a.locus?.length - b.locus?.length, + sortable: true, + filterValue: false, + renderCell: ({ locus }) => locus?.length ?? naLabel, + exportValue: ({ locus }) => locus?.length, + }, +]; + +type BodyProps = { + id: string; + entity: string; +}; + +function Body({ id, entity }: BodyProps) { + const variables = { + studyId: id, + }; + + const request = useQuery(QTL_CREDIBLE_SETS_QUERY, { + variables, + }); + + return ( + } + renderBody={() => ( + + )} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/study/QTLCredibleSets/Description.tsx b/packages/sections/src/study/QTLCredibleSets/Description.tsx new file mode 100644 index 000000000..5046189fe --- /dev/null +++ b/packages/sections/src/study/QTLCredibleSets/Description.tsx @@ -0,0 +1,19 @@ +import { Link } from "ui"; + +type DescriptionProps = { + studyId: string; +}; + +function Description({ studyId }: DescriptionProps) { + return ( + <> + molQTL 99% credible sets associated with study{" "} + {studyId}. Source{" "} + + eQTL Catalog + + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsQuery.gql b/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsQuery.gql new file mode 100644 index 000000000..63e961c7c --- /dev/null +++ b/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsQuery.gql @@ -0,0 +1,22 @@ +query QTLCredibleSetsQuery($studyId: String!) { + gwasStudy(studyId: $studyId) { + studyId + credibleSets(page: { size: 2000, index: 0 }) { + studyLocusId + variant { + id + chromosome + position + referenceAllele + alternateAllele + } + pValueMantissa + pValueExponent + beta + locus { + is95CredibleSet + } + finemappingMethod + } + } +} \ No newline at end of file diff --git a/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql b/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql new file mode 100644 index 000000000..e506a012c --- /dev/null +++ b/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql @@ -0,0 +1,5 @@ +fragment QTLCredibleSetsSummaryFragment on Gwas { + qtlCredibleSets: credibleSets(page: { size: 1, index: 0 }) { + beta + } +} \ No newline at end of file diff --git a/packages/sections/src/study/QTLCredibleSets/Summary.tsx b/packages/sections/src/study/QTLCredibleSets/Summary.tsx new file mode 100644 index 000000000..889929448 --- /dev/null +++ b/packages/sections/src/study/QTLCredibleSets/Summary.tsx @@ -0,0 +1,16 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import QTL_CREDIBLE_SETS_SUMMARY from "./QTLCredibleSetsSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(QTL_CREDIBLE_SETS_SUMMARY); + + return ; +} + +Summary.fragments = { + QTLCredibleSetsSummaryFragment: QTL_CREDIBLE_SETS_SUMMARY, +}; + +export default Summary; \ No newline at end of file diff --git a/packages/sections/src/study/QTLCredibleSets/index.ts b/packages/sections/src/study/QTLCredibleSets/index.ts new file mode 100644 index 000000000..ce0c7cdaa --- /dev/null +++ b/packages/sections/src/study/QTLCredibleSets/index.ts @@ -0,0 +1,8 @@ +const id = "qtl_credible_sets"; +export const definition = { + id, + name: "molQTL Credible Sets", + shortName: "QT", + hasData: data => data?.[0]?.qtlCredibleSets?.length > 0 || + data?.[0]?.credibleSets?.length > 0, +}; \ No newline at end of file diff --git a/packages/sections/src/study/SharedTraitStudies/Body.tsx b/packages/sections/src/study/SharedTraitStudies/Body.tsx new file mode 100644 index 000000000..db2f3afb2 --- /dev/null +++ b/packages/sections/src/study/SharedTraitStudies/Body.tsx @@ -0,0 +1,188 @@ +import { Fragment } from "react"; +import { useQuery } from "@apollo/client"; +import { Box, Typography } from "@mui/material"; +import { Link, SectionItem, Tooltip, PublicationsDrawer, OtTable } from "ui"; +import { definition } from "."; +import Description from "./Description"; +import { naLabel } from "../../constants"; +import SHARED_TRAIT_STUDIES_QUERY from "./SharedTraitStudiesQuery.gql"; +import { getStudyCategory } from "../../utils/getStudyCategory"; +import { epmcUrl } from "ui/src/utils/urls"; + +function getColumns(diseaseIds: string[]) { + const diseaseIdsSet = new Set(diseaseIds); + return [ + { + id: "studyId", + label: "Study ID", + renderCell: ({ studyId }) => {studyId}, + }, + { + id: "sharedDiseases", + label: "Shared traits", + renderCell: ({ diseases }) => { + const sharedTraits = diseases.filter(d => diseaseIdsSet.has(d.id)); + return ( + <> + {sharedTraits.map(({ id, name }, index) => ( + + {index > 0 ? ", " : null} + {name} + + ))} + + ); + }, + exportValue: ({ diseases }) => + diseases + .filter(d => diseaseIdsSet.has(d.id)) + .map(({ name }) => name) + .join(", "), + }, + { + id: "traitFromSource", + label: "Trait from source", + }, + { + id: "author", + label: "Author", + renderCell: ({ projectId, publicationFirstAuthor }) => + getStudyCategory(projectId) === "FINNGEN" ? "FinnGen" : publicationFirstAuthor || naLabel, + exportValue: ({ projectId, publicationFirstAuthor }) => + getStudyCategory(projectId) === "FINNGEN" ? "FinnGen" : publicationFirstAuthor, + }, + { + id: "publicationDate", + label: "Date", + renderCell: ({ projectId, publicationDate }) => + getStudyCategory(projectId) === "FINNGEN" + ? "2023" + : publicationDate + ? publicationDate.slice(0, 4) + : naLabel, + exportValue: ({ projectId, publicationYear }) => + getStudyCategory(projectId) === "FINNGEN" ? "2023" : publicationYear, + }, + { + id: "publicationJournal", + label: "Journal", + renderCell: ({ projectId, publicationJournal }) => + getStudyCategory(projectId) === "FINNGEN" ? naLabel : publicationJournal || naLabel, + exportValue: ({ projectId, publicationJournal }) => + getStudyCategory(projectId) === "FINNGEN" ? naLabel : publicationJournal, + }, + { + id: "nSamples", + label: "Sample size", + comparator: (a, b) => a?.nSamples - b?.nSamples, + sortable: true, + }, + { + id: "cohorts", + label: "Cohorts", + renderCell: ({ projectId, cohorts, ldPopulationStructure }) => { + let displayText; + if (getStudyCategory(projectId) === "FINNGEN") displayText = "FinnGen"; + else if (cohorts?.length) displayText = cohorts.join(", "); + else return naLabel; + return ldPopulationStructure?.length ? ( + + + LD populations and relative sample sizes + + {ldPopulationStructure.map(({ ldPopulation, relativeSampleSize }) => ( + + + {ldPopulation}: {relativeSampleSize} + + + ))} + + } + showHelpIcon + > + {displayText} + + ) : ( + displayText + ); + }, + exportValue: ({ projectId, cohorts }) => + getStudyCategory(projectId) === "FINNGEN" + ? "FinnGen" + : cohorts?.length + ? cohorts.join(", ") + : null, + }, + { + id: "pubmedId", + label: "PubMed ID", + renderCell: ({ projectId, pubmedId }) => + getStudyCategory(projectId) === "GWAS" && pubmedId ? ( + + ) : ( + naLabel + ), + exportValue: ({ projectId, pubmedId }) => + getStudyCategory(projectId) === "GWAS" && pubmedId ? pubmedId : null, + }, + ]; +} + +type BodyProps = { + studyId: string; + diseaseIds: string[]; + entity: string; +}; + +const parseStudies = (studyId, gwasStudy) => { + const studies = []; + const studyIds = new Set([studyId]); + for (const study of gwasStudy) { + if (!studyIds.has(study.studyId)) { + studies.push(study); + studyIds.add(study.studyId); + } + } + return studies; +}; + +export function Body({ studyId, diseaseIds, entity }: BodyProps) { + const variables = { + diseaseIds: diseaseIds, + }; + + const request = useQuery(SHARED_TRAIT_STUDIES_QUERY, { + variables, + }); + + const columns = getColumns(diseaseIds); + + return ( + } + renderBody={() => { + const rows = request.data?.gwasStudy ? parseStudies(studyId, request.data.gwasStudy) : []; + return ( + + ); + }} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/study/SharedTraitStudies/Description.tsx b/packages/sections/src/study/SharedTraitStudies/Description.tsx new file mode 100644 index 000000000..327c9140e --- /dev/null +++ b/packages/sections/src/study/SharedTraitStudies/Description.tsx @@ -0,0 +1,24 @@ +import { Link } from "ui"; + +type DescriptionProps = { + studyId: string; +}; + +function Description({ studyId }: DescriptionProps) { + return ( + <> + GWAS studies that share traits with study{" "} + {studyId}. Source{" "} + + GWAS Catalog + + ,{" "} + + FinnGen + + . + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/study/SharedTraitStudies/SharedTraitStudiesQuery.gql b/packages/sections/src/study/SharedTraitStudies/SharedTraitStudiesQuery.gql new file mode 100644 index 000000000..e122801c0 --- /dev/null +++ b/packages/sections/src/study/SharedTraitStudies/SharedTraitStudiesQuery.gql @@ -0,0 +1,21 @@ +query SharedTraitStudiesQuery($diseaseIds: [String!]!) { + gwasStudy(diseaseIds: $diseaseIds, page: { size: 2000, index: 0 }) { + studyId + traitFromSource + projectId + diseases { + id + name + } + publicationFirstAuthor + publicationDate + publicationJournal + nSamples + cohorts + ldPopulationStructure { + ldPopulation + relativeSampleSize + } + pubmedId + } +} \ No newline at end of file diff --git a/packages/sections/src/study/SharedTraitStudies/Summary.tsx b/packages/sections/src/study/SharedTraitStudies/Summary.tsx new file mode 100644 index 000000000..5e47ca6f0 --- /dev/null +++ b/packages/sections/src/study/SharedTraitStudies/Summary.tsx @@ -0,0 +1,11 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; + +function Summary() { + const request = usePlatformApi(); + + return ; +} + +export default Summary; \ No newline at end of file diff --git a/packages/sections/src/study/SharedTraitStudies/index.ts b/packages/sections/src/study/SharedTraitStudies/index.ts new file mode 100644 index 000000000..374de68bd --- /dev/null +++ b/packages/sections/src/study/SharedTraitStudies/index.ts @@ -0,0 +1,14 @@ +const id = "shared_trait_studies"; +export const definition = { + id, + name: "Shared Trait Studies", + shortName: "ST", + hasData: data => { + if (data?.sharedTraitStudies) { // summary + return data.sharedTraitStudies.some(study => ( + study.studyId !== data.gwasStudy?.[0]?.studyId + )); + } + return data?.length > 0; + }, +}; \ No newline at end of file diff --git a/packages/sections/src/utils/comparators.js b/packages/sections/src/utils/comparators.js deleted file mode 100644 index d0d9e2e44..000000000 --- a/packages/sections/src/utils/comparators.js +++ /dev/null @@ -1,37 +0,0 @@ -/* -Example usage: -const comparatorDiseaseName = generateComparatorFromAccessor(d => d.disease.name); - */ -export const generateComparatorFromAccessor = accessor => (a, b) => { - const aValue = accessor(a); - const bValue = accessor(b); - if (aValue > bValue) return 1; - if (aValue === bValue) return 0; - return -1; -}; - -/* - Compares a breakpoint against a breakpoint helper. - */ -export const breakpointMatch = (breakpoint, breakpointHelper) => { - const breakpointMap = { xs: 0, sm: 1, md: 2, lg: 3, xl: 4 }; - const isDownComparator = breakpointHelper.includes("Down"); - const isUpComparator = breakpointHelper.includes("Up"); - - const breakpointIndex = breakpointMap[breakpoint]; - const breakpointHelperIndex = breakpointMap[breakpointHelper.replace(/Down|Up|Only/g, "")]; - - if (breakpointIndex === breakpointHelperIndex) { - return true; - } - - if (isDownComparator && breakpointIndex <= breakpointHelperIndex) { - return true; - } - - if (isUpComparator && breakpointIndex >= breakpointHelperIndex) { - return true; - } - - return false; -}; diff --git a/packages/sections/src/utils/comparators.ts b/packages/sections/src/utils/comparators.ts new file mode 100644 index 000000000..26d4caba9 --- /dev/null +++ b/packages/sections/src/utils/comparators.ts @@ -0,0 +1,83 @@ +/* +Example usage: +const comparatorDiseaseName = generateComparatorFromAccessor(d => d.disease.name); + */ +export const generateComparatorFromAccessor = accessor => (a, b) => { + const aValue = accessor(a); + const bValue = accessor(b); + if (aValue > bValue) return 1; + if (aValue === bValue) return 0; + return -1; +}; + +/* + Compares a breakpoint against a breakpoint helper. + */ +export const breakpointMatch = (breakpoint, breakpointHelper) => { + const breakpointMap = { xs: 0, sm: 1, md: 2, lg: 3, xl: 4 }; + const isDownComparator = breakpointHelper.includes("Down"); + const isUpComparator = breakpointHelper.includes("Up"); + + const breakpointIndex = breakpointMap[breakpoint]; + const breakpointHelperIndex = breakpointMap[breakpointHelper.replace(/Down|Up|Only/g, "")]; + + if (breakpointIndex === breakpointHelperIndex) { + return true; + } + + if (isDownComparator && breakpointIndex <= breakpointHelperIndex) { + return true; + } + + if (isUpComparator && breakpointIndex >= breakpointHelperIndex) { + return true; + } + + return false; +}; + +/* + Compares variants by chromosome, position, reference allele, alternate allele +*/ +const chromosomeRank = new Map; +for (let i = 1; i <= 22; i++) { + chromosomeRank.set(String(i), i); +} +chromosomeRank.set('X', 23); +chromosomeRank.set('Y', 24); + +type VariantType = { + variant: { + chromosome: string; + position: number; + referenceAllele: string; + alternateAllele: string; + } +}; + +export function variantComparator( + { variant: v1 }: VariantType, + { variant: v2 }: VariantType + ) { + + if (!v1 || !v2) return 0; + + const chromosomeDiff = + chromosomeRank.get(v1.chromosome) - chromosomeRank.get(v2.chromosome); + if (chromosomeDiff !== 0) return chromosomeDiff; + + const positionDiff = v1.position - v2.position; + if (positionDiff !== 0) return positionDiff + + if (v1.referenceAllele < v2.referenceAllele) return -1; + else if (v1.referenceAllele > v2.referenceAllele) return 1; + else if (v1.alternateAllele < v2.alternateAllele) return -1; + else if (v1.alternateAllele > v2.alternateAllele) return 1; + + return 0; +} + +export function mantissaExponentComparator(m1, e1, m2, e2) { + if (e1 === e2) return m1 - m2; + return e1 - e2; +} \ No newline at end of file diff --git a/packages/sections/src/utils/getStudyCategory.ts b/packages/sections/src/utils/getStudyCategory.ts new file mode 100644 index 000000000..6bd5bdcc8 --- /dev/null +++ b/packages/sections/src/utils/getStudyCategory.ts @@ -0,0 +1,7 @@ +// currently resolve study category purely from projectId +export function getStudyCategory(projectId: string) { + if (!projectId) return ''; + if (projectId === "GCST") return "GWAS"; + if (projectId.startsWith("FINNGEN")) return "FINNGEN"; + return "QTL"; +} \ No newline at end of file diff --git a/packages/sections/src/variant/EVA/Body.tsx b/packages/sections/src/variant/EVA/Body.tsx new file mode 100644 index 000000000..7dee680f1 --- /dev/null +++ b/packages/sections/src/variant/EVA/Body.tsx @@ -0,0 +1,192 @@ +import { useQuery } from "@apollo/client"; +import { Link, Tooltip, SectionItem, PublicationsDrawer, ClinvarStars, OtTable } from "ui"; +import { Typography } from "@mui/material"; +import { clinvarStarMap, naLabel } from "../../constants"; +import { definition } from "."; + +import Description from "./Description"; +import { epmcUrl } from "../../utils/urls"; +import { sentenceCase } from "../../utils/global"; +import EVA_QUERY from "./EVAQuery.gql"; + +const columns = [ + { + id: "disease.name", + label: "Disease/phenotype", + renderCell: ({ disease, diseaseFromSource, cohortPhenotypes }) => { + let displayElement = {disease.name}; + if (diseaseFromSource || cohortPhenotypes?.length > 0) { + displayElement = ( + + {diseaseFromSource && ( + <> + + Reported disease or phenotype: + + + {diseaseFromSource} + + + )} + {cohortPhenotypes?.length > (diseaseFromSource ? 1 : 0) && ( + <> + + All reported phenotypes: + + + {cohortPhenotypes.map(cp => ( +
{cp}
+ ))} +
+ + )} + + } + showHelpIcon + > + {displayElement} +
+ ); + } + return displayElement; + }, + exportValue: ({ disease }) => disease.name, + filterValue: ({ disease }) => disease.name, + }, + { + id: "studyId", + label: "ClinVar ID", + renderCell: ({ studyId }) => { + if (!studyId) return naLabel; + return ( + + {studyId} + + ); + }, + }, + { + id: "clinicalSignificances", + label: "Clinical significance", + renderCell: ({ clinicalSignificances }) => { + if (!clinicalSignificances || clinicalSignificances.length === 0) { + return naLabel; + } + if (clinicalSignificances.length === 1) { + return sentenceCase(clinicalSignificances[0]); + } + return clinicalSignificances.map(clinicalSignificance => ( +
{sentenceCase(clinicalSignificance)}
+ )); + }, + filterValue: ({ clinicalSignificances }) => { + return clinicalSignificances?.join(" ") || ""; + }, + }, + { + id: "allelicRequirements", + label: "Allele origin", + renderCell: ({ alleleOrigins, allelicRequirements }) => { + if (!alleleOrigins || alleleOrigins.length === 0) return naLabel; + let displayElement = alleleOrigins.map(a => sentenceCase(a)).join("; "); + if (allelicRequirements) { + displayElement = ( + + + Allelic requirements: + + {allelicRequirements.map(r => ( + + {r} + + ))} + + } + showHelpIcon + > + {displayElement} + + ); + } + return displayElement; + }, + filterValue: ({ alleleOrigins }) => alleleOrigins?.join(" ") || "", + }, + { + id: "reviewStatus", + label: "Review status", + renderCell: ({ confidence }) => { + if (!confidence) return naLabel; + return ( + + + + ); + }, + }, + { + id: "literature", + label: "Literature", + renderCell: ({ literature }) => { + const literatureList = + literature?.reduce((acc, id) => { + if (id !== "NA") { + acc.push({ + name: id, + url: epmcUrl(id), + group: "literature", + }); + } + return acc; + }, []) || []; + return ; + }, + }, +]; + +type BodyProps = { + id: string; + entity: string; +}; + +function Body({ id, entity }: BodyProps) { + const variables = { + variantId: id, + }; + + const request = useQuery(EVA_QUERY, { + variables, + }); + + return ( + ( + + )} + renderBody={() => ( + + )} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/variant/EVA/Description.tsx b/packages/sections/src/variant/EVA/Description.tsx new file mode 100644 index 000000000..f534cef4d --- /dev/null +++ b/packages/sections/src/variant/EVA/Description.tsx @@ -0,0 +1,28 @@ +import { Link, DisplayVariantId } from "ui"; + +type DescriptionProps = { + variantId: string; + referenceAllele: string; + alternateAllele: string; +}; + +function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { + return ( + <> + Genetic variation from clinical submissions associating{" "} + + + + {" "}to a disease/phenotype. Source:{" "} + + EVA + + + ); +} + +export default Description; diff --git a/packages/sections/src/variant/EVA/EVAQuery.gql b/packages/sections/src/variant/EVA/EVAQuery.gql new file mode 100644 index 000000000..61e6fa8ff --- /dev/null +++ b/packages/sections/src/variant/EVA/EVAQuery.gql @@ -0,0 +1,24 @@ +query EVAQuery($variantId: String!) { + variant(variantId: $variantId) { + id + referenceAllele + alternateAllele + evidences(datasourceIds: ["eva"]) { + count + rows { + alleleOrigins + allelicRequirements + clinicalSignificances + cohortPhenotypes + confidence + disease { + id + name + } + diseaseFromSource + studyId + literature + } + } + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/EVA/EVASummaryFragment.gql b/packages/sections/src/variant/EVA/EVASummaryFragment.gql new file mode 100644 index 000000000..5eb995c29 --- /dev/null +++ b/packages/sections/src/variant/EVA/EVASummaryFragment.gql @@ -0,0 +1,5 @@ +fragment EVASummaryFragment on Variant { + evaEvidences: evidences(datasourceIds: ["eva"]){ + count + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/EVA/Summary.tsx b/packages/sections/src/variant/EVA/Summary.tsx new file mode 100644 index 000000000..f896670ba --- /dev/null +++ b/packages/sections/src/variant/EVA/Summary.tsx @@ -0,0 +1,18 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import EVA_SUMMARY from "./EVASummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(EVA_SUMMARY); + + return ( + + ); +} + +Summary.fragments = { + EVASummaryFragment: EVA_SUMMARY, +}; + +export default Summary; \ No newline at end of file diff --git a/packages/sections/src/variant/EVA/index.ts b/packages/sections/src/variant/EVA/index.ts new file mode 100644 index 000000000..27a6022db --- /dev/null +++ b/packages/sections/src/variant/EVA/index.ts @@ -0,0 +1,10 @@ +const id = "eva"; +export const definition = { + id, + name: "ClinVar", + shortName: "CV", + hasData: data => { + return data?.evaEvidences?.count > 0 || // summary + data?.evidences?.count > 0; // section + }, +}; diff --git a/packages/sections/src/variant/GWASCredibleSets/Body.tsx b/packages/sections/src/variant/GWASCredibleSets/Body.tsx new file mode 100644 index 000000000..6c0d1719a --- /dev/null +++ b/packages/sections/src/variant/GWASCredibleSets/Body.tsx @@ -0,0 +1,275 @@ +import { useQuery } from "@apollo/client"; +import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable } from "ui"; +import { Box, Chip } from "@mui/material"; +import { naLabel } from "../../constants"; +import { definition } from "."; +import Description from "./Description"; +import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; +import { Fragment } from "react/jsx-runtime"; +import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; + +type getColumnsType = { + id: string; + referenceAllele: string; + alternateAllele: string; + posteriorProbabilities: any; +}; + +function getColumns({ + id, + referenceAllele, + alternateAllele, + posteriorProbabilities, +}: getColumnsType) { + return [ + { + id: "view", + label: "Details", + renderCell: ({ studyLocusId }) => view, + filterValue: false, + exportValue: false, + }, + { + id: "leadVariant", + label: "Lead variant", + comparator: variantComparator, + sortable: true, + filterValue: ({ variant: v }) => + `${v?.chromosome}_${v?.position}_${v?.referenceAllele}_${v?.alternateAllele}`, + renderCell: ({ variant }) => { + if (!variant) return naLabel; + const { id: variantId, referenceAllele, alternateAllele } = variant; + const displayElement = ( + + ); + if (variantId === id) { + return ( + + {displayElement} + + + ); + } + return {displayElement}; + }, + exportValue: ({ variant }) => variant?.id, + }, + { + id: "trait", + label: "Trait", + filterValue: ({ study }) => study?.traitFromSource, + renderCell: ({ study }) => { + if (!study?.traitFromSource) return naLabel; + return study.traitFromSource; + }, + exportValue: ({ study }) => study?.traitFromSource, + }, + { + id: "disease", + label: "Diseases", + filterValue: ({ study }) => study?.diseases.map(d => d.name).join(", "), + renderCell: ({ study }) => { + if (!study?.diseases?.length) return naLabel; + return ( + <> + {study.diseases.map((d, i) => ( + + {i > 0 && ", "} + {d.name} + + ))} + + ); + }, + exportValue: ({ study }) => study?.diseases?.map(d => d.name).join(", "), + }, + { + id: "study.studyId", + label: "Study ID", + renderCell: ({ study }) => { + if (!study) return naLabel; + return {study.studyId}; + }, + }, + { + id: "pValue", + label: "P-value", + comparator: (a, b) => + mantissaExponentComparator( + a?.pValueMantissa, + a?.pValueExponent, + b?.pValueMantissa, + b?.pValueExponent + ), + sortable: true, + filterValue: false, + renderCell: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") + return naLabel; + return ; + }, + exportValue: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return null; + return `${pValueMantissa}x10${pValueExponent}`; + }, + }, + { + id: "beta", + label: "Beta", + filterValue: false, + tooltip: "Beta with respect to the ALT allele", + renderCell: ({ beta }) => { + if (typeof beta !== "number") return naLabel; + return beta.toPrecision(3); + }, + }, + { + id: "posteriorProbability", + label: "Posterior probability", + filterValue: false, + tooltip: ( + <> + Posterior inclusion probability that the fixed page variant ( + + ) is causal. + + ), + comparator: (rowA, rowB) => + posteriorProbabilities.get(rowA.locus) - posteriorProbabilities.get(rowB.locus), + sortable: true, + renderCell: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3) ?? naLabel, + exportValue: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3), + }, + { + id: "ldr2", + label: "LD (r²)", + filterValue: false, + tooltip: ( + <> + Linkage disequilibrium with the fixed page variant ( + + ). + + ), + renderCell: ({ locus }) => { + const r2 = locus?.find(obj => obj.variant?.id === id)?.r2Overall; + if (typeof r2 !== "number") return naLabel; + return r2.toFixed(2); + }, + }, + { + id: "finemappingMethod", + label: "Finemapping method", + }, + { + id: "topL2G", + label: "Top L2G", + filterValue: ({ strongestLocus2gene }) => strongestLocus2gene?.target.approvedSymbol, + tooltip: "Top gene prioritised by our locus-to-gene model", + renderCell: ({ strongestLocus2gene }) => { + if (!strongestLocus2gene?.target) return naLabel; + const { target } = strongestLocus2gene; + return {target.approvedSymbol}; + }, + exportValue: ({ strongestLocus2gene }) => strongestLocus2gene?.target.approvedSymbol, + }, + { + id: "l2gScore", + label: "L2G score", + comparator: (rowA, rowB) => + rowA?.strongestLocus2gene?.score - rowB?.strongestLocus2gene?.score, + sortable: true, + filterValue: false, + renderCell: ({ strongestLocus2gene }) => { + if (typeof strongestLocus2gene?.score !== "number") return naLabel; + return strongestLocus2gene.score.toFixed(3); + }, + exportValue: ({ strongestLocus2gene }) => strongestLocus2gene?.score, + }, + { + id: "credibleSetSize", + label: "Credible set size", + comparator: (a, b) => a.locus?.length - b.locus?.length, + sortable: true, + filterValue: false, + renderCell: ({ locus }) => locus?.length ?? naLabel, + exportValue: ({ locus }) => locus?.length, + }, + ]; +} + +type BodyProps = { + id: string; + entity: string; +}; + +function Body({ id, entity }: BodyProps) { + const variables = { + variantId: id, + }; + + const request = useQuery(GWAS_CREDIBLE_SETS_QUERY, { + variables, + }); + + return ( + ( + + )} + renderBody={() => { + // get columns here so get posterior probabilities once - avoids + // having to find posterior probs inside sorting comparator function + const posteriorProbabilities = new Map(); + for (const { locus } of request.data?.variant?.credibleSets || []) { + const postProb = locus?.find(loc => loc.variant?.id === id)?.posteriorProbability; + if (postProb !== undefined) { + posteriorProbabilities.set(locus, postProb); + } + } + + return ( + + ); + }} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/variant/GWASCredibleSets/Description.tsx b/packages/sections/src/variant/GWASCredibleSets/Description.tsx new file mode 100644 index 000000000..fc1ffc060 --- /dev/null +++ b/packages/sections/src/variant/GWASCredibleSets/Description.tsx @@ -0,0 +1,28 @@ +import { Link, DisplayVariantId } from "ui"; + +type DescriptionProps = { + variantId: string; + referenceAllele: string; + alternateAllele: string; +}; + +function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { + return ( + <> + GWAS 99% credible sets containing{" "} + + + + . Source{" "} + + Open Targets + + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql new file mode 100644 index 000000000..8c590f09b --- /dev/null +++ b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql @@ -0,0 +1,43 @@ +query GWASCredibleSetsQuery($variantId: String!) { + variant(variantId: $variantId) { + id + referenceAllele + alternateAllele + credibleSets(studyTypes: [gwas], page: { size: 2000, index: 0 }) { + studyLocusId + variant { + id + chromosome + position + referenceAllele + alternateAllele + } + study { + traitFromSource + studyId + diseases { + name + id + } + } + pValueMantissa + pValueExponent + beta + locus { + variant { + id + } + r2Overall + posteriorProbability + } + finemappingMethod + strongestLocus2gene { + target { + id + approvedSymbol + } + score + } + } + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql new file mode 100644 index 000000000..bd87f01cb --- /dev/null +++ b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql @@ -0,0 +1,8 @@ +fragment GWASCredibleSetsSummaryFragment on Variant { + gwasCredibleSets: credibleSets( + studyTypes: [gwas], + page: { size: 1, index: 0 } + ) { + studyLocusId + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/GWASCredibleSets/Summary.tsx b/packages/sections/src/variant/GWASCredibleSets/Summary.tsx new file mode 100644 index 000000000..dd08a3154 --- /dev/null +++ b/packages/sections/src/variant/GWASCredibleSets/Summary.tsx @@ -0,0 +1,16 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import GWAS_CREDIBLE_SETS_SUMMARY from "./GWASCredibleSetsSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(GWAS_CREDIBLE_SETS_SUMMARY); + + return ; +} + +Summary.fragments = { + GWASCredibleSetsSummaryFragment: GWAS_CREDIBLE_SETS_SUMMARY, +}; + +export default Summary; \ No newline at end of file diff --git a/packages/sections/src/variant/GWASCredibleSets/index.ts b/packages/sections/src/variant/GWASCredibleSets/index.ts new file mode 100644 index 000000000..a619d1ec7 --- /dev/null +++ b/packages/sections/src/variant/GWASCredibleSets/index.ts @@ -0,0 +1,8 @@ +const id = "gwas_credible_sets"; +export const definition = { + id, + name: "GWAS Credible Sets", + shortName: "GW", + hasData: data => data?.gwasCredibleSets?.length > 0 || + data?.credibleSets?.length > 0, +}; diff --git a/packages/sections/src/variant/InSilicoPredictors/Body.tsx b/packages/sections/src/variant/InSilicoPredictors/Body.tsx new file mode 100644 index 000000000..d5096ea13 --- /dev/null +++ b/packages/sections/src/variant/InSilicoPredictors/Body.tsx @@ -0,0 +1,88 @@ +import { useQuery } from "@apollo/client"; +import { Typography } from "@mui/material"; +import { SectionItem, Tooltip, OtTable } from "ui"; +import { definition } from "../InSilicoPredictors"; +import Description from "../InSilicoPredictors/Description"; +import { naLabel } from "../../constants"; +import IN_SILICO_PREDICTORS_QUERY from "./InSilicoPredictorsQuery.gql"; + +const columns = [ + { + id: "method", + label: "Method", + }, + { + id: "assessment", + label: "Prediction", + renderCell: ({ assessment, assessmentFlag }) => + assessmentFlag ? ( + + + Flag: {assessmentFlag} + + + } + showHelpIcon + > + {assessment ?? naLabel} + + ) : ( + assessment ?? naLabel + ), + }, + { + id: "score", + label: "Score", + renderCell: ({ score }) => score ?? naLabel, + }, +]; + +type BodyProps = { + id: string; + entity: string; +}; + +export function Body({ id, entity }: BodyProps) { + const variables = { + variantId: id, + }; + const request = useQuery(IN_SILICO_PREDICTORS_QUERY, { + variables, + }); + + return ( + ( + + )} + renderBody={() => { + let rows = []; + if (request.data) + rows = [...request.data.variant.inSilicoPredictors].sort((row1, row2) => { + return row1.method.localeCompare(row2.method); + }); + return ( + + ); + }} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/variant/InSilicoPredictors/Description.tsx b/packages/sections/src/variant/InSilicoPredictors/Description.tsx new file mode 100644 index 000000000..7a71ed4e9 --- /dev/null +++ b/packages/sections/src/variant/InSilicoPredictors/Description.tsx @@ -0,0 +1,32 @@ +import { Link, DisplayVariantId } from "ui"; + +type DescriptionProps = { + variantId: string; + referenceAllele: string; + alternateAllele: string; +}; + +function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { + return ( + <> + Predicted functional effect of{" "} + + + + . Source:{" "} + + VEP + + ,{" "} + + gnomAD + + + ); +} + +export default Description; diff --git a/packages/sections/src/variant/InSilicoPredictors/InSilicoPredictorsQuery.gql b/packages/sections/src/variant/InSilicoPredictors/InSilicoPredictorsQuery.gql new file mode 100644 index 000000000..0cc65a0c6 --- /dev/null +++ b/packages/sections/src/variant/InSilicoPredictors/InSilicoPredictorsQuery.gql @@ -0,0 +1,13 @@ +query InSilicoPredictorsQuery($variantId: String!) { + variant(variantId: $variantId) { + id + inSilicoPredictors { + method + assessment + score + assessmentFlag + } + referenceAllele + alternateAllele + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/InSilicoPredictors/InSilicoPredictorsSummaryFragment.gql b/packages/sections/src/variant/InSilicoPredictors/InSilicoPredictorsSummaryFragment.gql new file mode 100644 index 000000000..17700615f --- /dev/null +++ b/packages/sections/src/variant/InSilicoPredictors/InSilicoPredictorsSummaryFragment.gql @@ -0,0 +1,5 @@ +fragment InSilicoPredictorsSummaryFragment on Variant { + inSilicoPredictors { + method + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/InSilicoPredictors/Summary.tsx b/packages/sections/src/variant/InSilicoPredictors/Summary.tsx new file mode 100644 index 000000000..c13e30a70 --- /dev/null +++ b/packages/sections/src/variant/InSilicoPredictors/Summary.tsx @@ -0,0 +1,16 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import IN_SILICO_PREDICTORS_SUMMARY from "./InSilicoPredictorsSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(IN_SILICO_PREDICTORS_SUMMARY); + + return ; +} + +Summary.fragments = { + InSilicoPredictorsSummaryFragment: IN_SILICO_PREDICTORS_SUMMARY, +}; + +export default Summary; diff --git a/packages/sections/src/variant/InSilicoPredictors/index.ts b/packages/sections/src/variant/InSilicoPredictors/index.ts new file mode 100644 index 000000000..95b6cd008 --- /dev/null +++ b/packages/sections/src/variant/InSilicoPredictors/index.ts @@ -0,0 +1,7 @@ +const id = "in_silico_predictors"; +export const definition = { + id, + name: "In silico predictors", + shortName: "VP", + hasData: data => data?.inSilicoPredictors?.length > 0, +}; diff --git a/packages/sections/src/variant/Pharmacogenomics/Body.tsx b/packages/sections/src/variant/Pharmacogenomics/Body.tsx new file mode 100644 index 000000000..3b24b7d2d --- /dev/null +++ b/packages/sections/src/variant/Pharmacogenomics/Body.tsx @@ -0,0 +1,235 @@ +import { useQuery } from "@apollo/client"; +import { definition } from "."; +import Description from "./Description"; +import PHARMACOGENOMICS_QUERY from "./PharmacogenomicsQuery.gql"; +import { Fragment } from "react"; +import classNames from "classnames"; +import { makeStyles } from "@mui/styles"; +import { Link, Tooltip, PublicationsDrawer, OtTable, SectionItem } from "ui"; +import { epmcUrl } from "../../utils/urls"; +import { naLabel, PHARM_GKB_COLOR } from "../../constants"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faCircleCheck } from "@fortawesome/free-solid-svg-icons"; +import { faCircleXmark } from "@fortawesome/free-regular-svg-icons"; + +const useStyles = makeStyles(theme => ({ + level: { + color: "white", + padding: theme.spacing(0.5), + borderRadius: theme.spacing(0.5), + }, + green: { + background: PHARM_GKB_COLOR.green, + }, + red: { + background: PHARM_GKB_COLOR.red, + }, + yellow: { + background: PHARM_GKB_COLOR.yellow, + }, + blue: { + background: theme.palette.primary.main, + }, + blueIcon: { + color: theme.palette.primary.main, + }, +})); + +const getLevelElementClassName = (level: string) => { + switch (level) { + case "1": + return "green"; + case "1A": + return "green"; + case "1B": + return "green"; + case "2": + return "blue"; + case "2A": + return "blue"; + case "2B": + return "blue"; + case "3": + return "yellow"; + case "4": + return "red"; + default: + return "red"; + } +}; + +type BodyProps = { + id: string; + entity: string; +}; + +function Body({ id, entity }: BodyProps) { + const variables = { variantId: id }; + + const classes = useStyles(); + const columns = [ + { + id: "genotypeId", + label: "Genotype ID", + tooltip: ( + <> + VCF-style(chr_pos_ref_allele1,allele2). See{" "} + + here + {" "} + for more details. + + ), + renderCell: ({ genotypeId }) => genotypeId || naLabel, + }, + { + id: "drug", + label: "Drug(s)", + renderCell: ({ drugs }) => { + const drugsInfo = drugs.filter(d => d.drugId || d.drugFromSource); + if (!drugsInfo.length) return naLabel; + return ( + <> + {drugsInfo.map(({ drugId, drugFromSource }, i) => { + const drugText = drugFromSource ? drugFromSource.toUpperCase() : drugId; + return ( + + {i > 0 && ", "} + {drugId ? {drugText} : drugText} + + ); + })} + + ); + }, + filterValue: ({ drugs }) => + drugs.map(d => `${d.drugFromSource ?? ""} ${d.drugId ?? ""}`).join(" "), + }, + { + id: "drugResponse", + label: "Drug response phenotype", + renderCell: ({ phenotypeText = naLabel, phenotypeFromSourceId, genotypeAnnotationText }) => { + let phenotypeTextElement = <>phenotypeText; + if (phenotypeFromSourceId) + phenotypeTextElement = ( + {phenotypeTextElement} + ); + if (genotypeAnnotationText) + phenotypeTextElement = ( + + {phenotypeTextElement} + + ); + return phenotypeTextElement; + }, + filterValue: ({ phenotypeText }) => phenotypeText, + }, + { + id: "drugResponseCategory", + label: "Drug response category", + renderCell: ({ pgxCategory }) => pgxCategory || naLabel, + filterValue: ({ pgxCategory }) => pgxCategory, + }, + { + id: "isDirectTarget", + label: "Direct drug target", + renderCell: ({ isDirectTarget }) => { + const ICON_NAME = isDirectTarget ? faCircleCheck : faCircleXmark; + return ; + }, + }, + { + id: "evidenceLevel", + label: "Confidence level", + comparator: (a, b) => (b.evidenceLevel < a.evidenceLevel ? 1 : -1), + sortable: true, + tooltip: ( + <> + As defined by + + {" "} + PharmGKB ClinAnn Levels + + + ), + renderCell: ({ evidenceLevel }) => { + if (evidenceLevel) { + const levelClass = getLevelElementClassName(evidenceLevel); + return ( + + Level {evidenceLevel} + + ); + } + return naLabel; + }, + filterValue: ({ evidenceLevel }) => `Level ${evidenceLevel}`, + }, + { + id: "source", + label: "Source", + renderCell: ({ studyId }) => + studyId ? ( + + PharmGKB + + ) : ( + naLabel + ), + }, + { + id: "literature", + renderCell: ({ literature }) => { + const literatureList = + literature?.reduce((acc, id) => { + if (id === "NA") return acc; + return [ + ...acc, + { + name: id, + url: epmcUrl(id), + group: "literature", + }, + ]; + }, []) || []; + return ; + }, + }, + ]; + + const request = useQuery(PHARMACOGENOMICS_QUERY, { + variables, + }); + + return ( + ( + + )} + renderBody={() => ( + + )} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/variant/Pharmacogenomics/Description.tsx b/packages/sections/src/variant/Pharmacogenomics/Description.tsx new file mode 100644 index 000000000..b60aad828 --- /dev/null +++ b/packages/sections/src/variant/Pharmacogenomics/Description.tsx @@ -0,0 +1,29 @@ +import { Link, DisplayVariantId } from "ui"; + +type DescriptionProps = { + variantId: string; + referenceAllele: string; + alternateAllele: string; +}; + +function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { + return ( + <> + Genotypes in{" "} + + + + {" "}known to affect drug response. Source:{" "} + + PharmGKB + + . + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/variant/Pharmacogenomics/PharmacogenomicsQuery.gql b/packages/sections/src/variant/Pharmacogenomics/PharmacogenomicsQuery.gql new file mode 100644 index 000000000..c5c4fd1b4 --- /dev/null +++ b/packages/sections/src/variant/Pharmacogenomics/PharmacogenomicsQuery.gql @@ -0,0 +1,22 @@ +query PharmacogenomicsQuery($variantId: String!) { + variant(variantId: $variantId) { + id + referenceAllele + alternateAllele + pharmacogenomics { + genotypeId + isDirectTarget + drugs { + drugFromSource + drugId + } + phenotypeFromSourceId + genotypeAnnotationText + phenotypeText + pgxCategory + evidenceLevel + studyId + literature + } + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/Pharmacogenomics/PharmacogenomicsSummaryFragment.gql b/packages/sections/src/variant/Pharmacogenomics/PharmacogenomicsSummaryFragment.gql new file mode 100644 index 000000000..9f5ce6464 --- /dev/null +++ b/packages/sections/src/variant/Pharmacogenomics/PharmacogenomicsSummaryFragment.gql @@ -0,0 +1,5 @@ +fragment PharmacogenomicsSummaryFragment on Variant { + pharmacogenomics { + isDirectTarget + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/Pharmacogenomics/Summary.tsx b/packages/sections/src/variant/Pharmacogenomics/Summary.tsx new file mode 100644 index 000000000..681d38655 --- /dev/null +++ b/packages/sections/src/variant/Pharmacogenomics/Summary.tsx @@ -0,0 +1,18 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import PHARMACOGENOMICS_SUMMARY from "./PharmacogenomicsSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(PHARMACOGENOMICS_SUMMARY); + + return ( + + ); +} + +Summary.fragments = { + PharmacogenomicsSummaryFragment: PHARMACOGENOMICS_SUMMARY, +}; + +export default Summary; diff --git a/packages/sections/src/variant/Pharmacogenomics/index.ts b/packages/sections/src/variant/Pharmacogenomics/index.ts new file mode 100644 index 000000000..d602175a5 --- /dev/null +++ b/packages/sections/src/variant/Pharmacogenomics/index.ts @@ -0,0 +1,6 @@ +export const definition = { + id: "pharmacogenetics", + name: "Pharmacogenetics", + shortName: "PGx", + hasData: data => data.pharmacogenomics.length > 0, +}; diff --git a/packages/sections/src/variant/QTLCredibleSets/Body.tsx b/packages/sections/src/variant/QTLCredibleSets/Body.tsx new file mode 100644 index 000000000..bb9bdab39 --- /dev/null +++ b/packages/sections/src/variant/QTLCredibleSets/Body.tsx @@ -0,0 +1,238 @@ +import { useQuery } from "@apollo/client"; +import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable } from "ui"; +import { Box, Chip } from "@mui/material"; +import { naLabel } from "../../constants"; +import { definition } from "."; +import Description from "./Description"; +import QTL_CREDIBLE_SETS_QUERY from "./QTLCredibleSetsQuery.gql"; +import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; + +type getColumnsType = { + id: string; + referenceAllele: string; + alternateAllele: string; + posteriorProbabilities: any; +}; + +function getColumns({ + id, + referenceAllele, + alternateAllele, + posteriorProbabilities, +}: getColumnsType) { + return [ + { + id: "view", + label: "Details", + renderCell: ({ studyLocusId }) => view, + filterValue: false, + exportValue: false, + }, + { + id: "leadVariant", + label: "Lead variant", + comparator: variantComparator, + sortable: true, + filterValue: ({ variant: v }) => + `${v?.chromosome}_${v?.position}_${v?.referenceAllele}_${v?.alternateAllele}`, + renderCell: ({ variant }) => { + if (!variant) return naLabel; + const { id: variantId, referenceAllele, alternateAllele } = variant; + const displayElement = ( + + ); + if (variantId === id) { + return ( + + {displayElement} + + + ); + } + return {displayElement}; + }, + exportValue: ({ variant }) => variant?.id, + }, + { + id: "study.studyId", + label: "Study ID", + renderCell: ({ study }) => { + if (!study) return naLabel; + return {study.studyId}; + }, + }, + { + id: "study.studyType", + label: "Type", + renderCell: ({ study }) => { + const type = study?.studyType; + if (!type) return naLabel; + return `${type.slice(0, -3)}${type.slice(-3).toUpperCase()}`; + }, + exportValue: ({ study }) => { + const type = study?.studyType; + if (!type) return null; + return `${type.slice(0, -3)}${type.slice(-3).toUpperCase()}`; + }, + }, + { + id: "study.target.approvedSymbol", + label: "Affected gene", + renderCell: ({ study }) => { + if (!study?.target) return naLabel; + return {study.target.approvedSymbol}; + }, + }, + { + id: "study.biosample.biosampleId", + label: "Affected tissue/cell", + renderCell: ({ study }) => { + const biosampleId = study?.biosample?.biosampleId; + if (!biosampleId) return naLabel; + return ( + + {biosampleId} + + ); + }, + }, + { + id: "study.condition", + label: "Condition", + renderCell: () => Not in API, + }, + { + id: "pValue", + label: "P-value", + comparator: (a, b) => + mantissaExponentComparator( + a?.pValueMantissa, + a?.pValueExponent, + b?.pValueMantissa, + b?.pValueExponent + ), + sortable: true, + filterValue: false, + renderCell: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") + return naLabel; + return ; + }, + exportValue: ({ pValueMantissa, pValueExponent }) => { + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return null; + return `${pValueMantissa}x10${pValueExponent}`; + }, + }, + { + id: "beta", + label: "Beta", + filterValue: false, + tooltip: "Beta with respect to the ALT allele", + renderCell: ({ beta }) => { + if (typeof beta !== "number") return naLabel; + return beta.toPrecision(3); + }, + }, + { + id: "posteriorProbability", + label: "Posterior probability", + filterValue: false, + tooltip: ( + <> + Posterior inclusion probability that the fixed page variant ( + + ) is causal. + + ), + comparator: (rowA, rowB) => + posteriorProbabilities.get(rowA.locus) - posteriorProbabilities.get(rowB.locus), + sortable: true, + renderCell: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3) ?? naLabel, + exportValue: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3), + }, + { + id: "finemappingMethod", + label: "Finemapping method", + }, + { + id: "credibleSetSize", + label: "Credible set size", + comparator: (a, b) => a.locus?.length - b.locus?.length, + sortable: true, + filterValue: false, + renderCell: ({ locus }) => locus?.length ?? naLabel, + exportValue: ({ locus }) => locus?.length, + }, + ]; +} + +type BodyProps = { + id: string; + entity: string; +}; + +function Body({ id, entity }: BodyProps) { + const variables = { + variantId: id, + }; + + const request = useQuery(QTL_CREDIBLE_SETS_QUERY, { + variables, + }); + + return ( + ( + + )} + renderBody={() => { + // get columns here so get posterior probabilities once - avoids + // having to find posterior probs inside sorting comparator function + const posteriorProbabilities = new Map(); + for (const { locus } of request.data?.variant?.credibleSets || []) { + const postProb = locus?.find(loc => loc.variant?.id === id)?.posteriorProbability; + if (postProb !== undefined) { + posteriorProbabilities.set(locus, postProb); + } + } + + return ( + + ); + }} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/variant/QTLCredibleSets/Description.tsx b/packages/sections/src/variant/QTLCredibleSets/Description.tsx new file mode 100644 index 000000000..79a642951 --- /dev/null +++ b/packages/sections/src/variant/QTLCredibleSets/Description.tsx @@ -0,0 +1,28 @@ +import { Link, DisplayVariantId } from "ui"; + +type DescriptionProps = { + variantId: string; + referenceAllele: string; + alternateAllele: string; +}; + +function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { + return ( + <> + molQTL 99% credible sets containing{" "} + + + + . Source{" "} + + eQTL Catalog + + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql new file mode 100644 index 000000000..20d1276b3 --- /dev/null +++ b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql @@ -0,0 +1,41 @@ +query QTLCredibleSetsQuery($variantId: String!) { + variant(variantId: $variantId) { + id + referenceAllele + alternateAllele + credibleSets( + studyTypes: [sqtl, pqtl, eqtl, tuqtl], + page: { size: 2000, index: 0 } + ) { + studyLocusId + variant { + id + chromosome + position + referenceAllele + alternateAllele + } + study { + studyId + studyType + target { + id + approvedSymbol + } + biosample { + biosampleId + } + } + pValueMantissa + pValueExponent + beta + locus { + variant { + id + } + posteriorProbability + } + finemappingMethod + } + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql new file mode 100644 index 000000000..82901fce6 --- /dev/null +++ b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql @@ -0,0 +1,8 @@ +fragment QTLCredibleSetsSummaryFragment on Variant { + qtlCredibleSets: credibleSets( + studyTypes: [sqtl, pqtl, eqtl, tuqtl], + page: { size: 1, index: 0 } + ) { + studyLocusId + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/QTLCredibleSets/Summary.tsx b/packages/sections/src/variant/QTLCredibleSets/Summary.tsx new file mode 100644 index 000000000..889929448 --- /dev/null +++ b/packages/sections/src/variant/QTLCredibleSets/Summary.tsx @@ -0,0 +1,16 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import QTL_CREDIBLE_SETS_SUMMARY from "./QTLCredibleSetsSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(QTL_CREDIBLE_SETS_SUMMARY); + + return ; +} + +Summary.fragments = { + QTLCredibleSetsSummaryFragment: QTL_CREDIBLE_SETS_SUMMARY, +}; + +export default Summary; \ No newline at end of file diff --git a/packages/sections/src/variant/QTLCredibleSets/index.ts b/packages/sections/src/variant/QTLCredibleSets/index.ts new file mode 100644 index 000000000..3a9624e9e --- /dev/null +++ b/packages/sections/src/variant/QTLCredibleSets/index.ts @@ -0,0 +1,8 @@ +const id = "qtl_credible_sets"; +export const definition = { + id, + name: "molQTL Credible Sets", + shortName: "QT", + hasData: data => data?.qtlCredibleSets?.length > 0 || + data?.credibleSets?.length > 0, +}; \ No newline at end of file diff --git a/packages/sections/src/variant/UniProtVariants/Body.tsx b/packages/sections/src/variant/UniProtVariants/Body.tsx new file mode 100644 index 000000000..6160e1f53 --- /dev/null +++ b/packages/sections/src/variant/UniProtVariants/Body.tsx @@ -0,0 +1,110 @@ +import { useQuery } from "@apollo/client"; +import { Typography } from "@mui/material"; +import { Link, SectionItem, Tooltip, PublicationsDrawer, OtTable } from "ui"; +import { definition } from "."; +import Description from "./Description"; +import { epmcUrl } from "../../utils/urls"; +import { naLabel } from "../../constants"; +import UNIPROT_VARIANTS_QUERY from "./UniProtVariantsQuery.gql"; + +const columns = [ + { + id: "diseases", + label: "Disease/phenotype", + renderCell: ({ disease, diseaseFromSource }) => { + if (!disease) return naLabel; + const displayElement = {disease.name}; + if (diseaseFromSource) { + return ( + + + Reported disease or phenotype + + + {diseaseFromSource} + + + } + showHelpIcon + > + {displayElement} + + ); + } + return displayElement; + }, + exportValue: ({ disease }) => disease?.name, + filterValue: ({ disease }) => disease?.name, + }, + { + id: "confidence", + label: "Confidence", + }, + { + id: "literature", + label: "Literature", + renderCell: ({ literature }) => { + const literatureList = + literature?.reduce((acc, id) => { + if (id !== "NA") { + acc.push({ + name: id, + url: epmcUrl(id), + group: "literature", + }); + } + return acc; + }, []) || []; + return ; + }, + filterValue: false, + }, +]; + +type BodyProps = { + id: string; + entity: string; +}; + +export function Body({ id, entity }: BodyProps) { + const variables = { + variantId: id, + }; + + const request = useQuery(UNIPROT_VARIANTS_QUERY, { + variables, + }); + + return ( + ( + + )} + renderBody={() => { + return ( + + ); + }} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/variant/UniProtVariants/Description.tsx b/packages/sections/src/variant/UniProtVariants/Description.tsx new file mode 100644 index 000000000..75d1ebc9b --- /dev/null +++ b/packages/sections/src/variant/UniProtVariants/Description.tsx @@ -0,0 +1,35 @@ +import { Link, DisplayVariantId } from "ui"; +import { identifiersOrgLink } from "../../utils/global"; + +type DescriptionProps = { + variantId: string; + referenceAllele: string; + alternateAllele: string; + targetFromSourceId: string | null; +}; + +function Description({ + variantId, + referenceAllele, + alternateAllele, + targetFromSourceId, +}: DescriptionProps) { + return ( + <> + Literature-based curation associating{" "} + + + {" "} + to a disease/phenotype. Source:{" "} + + UniProt ({targetFromSourceId}) + + + ); +} + +export default Description; diff --git a/packages/sections/src/variant/UniProtVariants/Summary.tsx b/packages/sections/src/variant/UniProtVariants/Summary.tsx new file mode 100644 index 000000000..c14cc760a --- /dev/null +++ b/packages/sections/src/variant/UniProtVariants/Summary.tsx @@ -0,0 +1,18 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import UNIPROT_VARIANTS_SUMMARY from "./UniProtVariantsSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(UNIPROT_VARIANTS_SUMMARY); + + return ( + + ); +} + +Summary.fragments = { + UniProtVariantsSummaryFragment: UNIPROT_VARIANTS_SUMMARY, +}; + +export default Summary; \ No newline at end of file diff --git a/packages/sections/src/variant/UniProtVariants/UniProtVariantsQuery.gql b/packages/sections/src/variant/UniProtVariants/UniProtVariantsQuery.gql new file mode 100644 index 000000000..c505deec0 --- /dev/null +++ b/packages/sections/src/variant/UniProtVariants/UniProtVariantsQuery.gql @@ -0,0 +1,20 @@ +query UniProtVariantsQuery($variantId: String!) { + variant(variantId: $variantId) { + id + referenceAllele + alternateAllele + evidences(datasourceIds: ["uniprot_variants"]) { + count + rows { + targetFromSourceId + confidence + diseaseFromSource + disease { + id + name + } + literature + } + } + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/UniProtVariants/UniProtVariantsSummaryFragment.gql b/packages/sections/src/variant/UniProtVariants/UniProtVariantsSummaryFragment.gql new file mode 100644 index 000000000..1a9ce0b54 --- /dev/null +++ b/packages/sections/src/variant/UniProtVariants/UniProtVariantsSummaryFragment.gql @@ -0,0 +1,5 @@ +fragment UniProtVariantsSummaryFragment on Variant { + uniProtEvidences: evidences(datasourceIds: ["uniprot_variants"]){ + count + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/UniProtVariants/index.ts b/packages/sections/src/variant/UniProtVariants/index.ts new file mode 100644 index 000000000..1c441048f --- /dev/null +++ b/packages/sections/src/variant/UniProtVariants/index.ts @@ -0,0 +1,10 @@ +const id = "uniprot_variants"; +export const definition = { + id, + name: "UniProt variants", + shortName: "UV", + hasData: data => { + return data?.uniProtEvidences?.count > 0 || // summary + data?.evidences?.count > 0; // section + }, +}; diff --git a/packages/sections/src/variant/VariantEffectPredictor/Body.tsx b/packages/sections/src/variant/VariantEffectPredictor/Body.tsx new file mode 100644 index 000000000..4beb7e4d2 --- /dev/null +++ b/packages/sections/src/variant/VariantEffectPredictor/Body.tsx @@ -0,0 +1,152 @@ +import { useQuery } from "@apollo/client"; +import { Box } from "@mui/material"; +import { Link, SectionItem, Tooltip, OtTable } from "ui"; +import { Fragment } from "react"; +import { definition } from "../VariantEffectPredictor"; +import Description from "../VariantEffectPredictor/Description"; +import { naLabel } from "../../constants"; +import { identifiersOrgLink } from "../../utils/global"; +import VARIANT_EFFECT_PREDICTOR_QUERY from "./VariantEffectPredictorQuery.gql"; + +function formatVariantConsequenceLabel(label) { + return label.replace(/_/g, " "); +} + +const columns = [ + { + id: "target.approvedSymbol", + label: "Gene", + comparator: (a, b) => a.transcriptIndex - b.transcriptIndex, + renderCell: ({ target, transcriptId }) => { + if (!target) return naLabel; + let displayElement = {target.approvedSymbol}; + if (transcriptId) { + displayElement = ( + + Ensembl canonical transcript:{" "} + + {transcriptId} + + + } + showHelpIcon + > + {displayElement} + + ); + } + return displayElement; + }, + }, + { + id: "variantConsequences.label", + label: "Predicted consequence", + renderCell: ({ variantConsequences }) => + variantConsequences.length + ? variantConsequences.map(({ id, label }, i, arr) => ( + + + {formatVariantConsequenceLabel(label)} + + {i < arr.length - 1 && ", "} + + )) + : naLabel, + exportValue: ({ variantConsequences }) => { + return variantConsequences + .map(({ label }) => { + return formatVariantConsequenceLabel(label); + }) + .join(", "); + }, + }, + { + id: "impact", + label: "Impact", + renderCell: ({ impact }) => impact?.toLowerCase?.() ?? naLabel, + }, + { + id: "aminoAcidChange", + label: "Amino acid change", + renderCell: ({ aminoAcidChange }) => aminoAcidChange ?? naLabel, + }, + { + id: "codons", + label: "Coding change", + renderCell: ({ codons }) => codons ?? naLabel, + }, + { + id: "distanceFromFootprint", + label: "Distance from footprint", + }, + { + id: "distanceFromTss", + label: "Distance from start site", + }, + { + id: "uniprotAccession", + label: "Uniprot accession", + renderCell: ({ uniprotAccessions }) => + uniprotAccessions?.length + ? uniprotAccessions.map((id, i, arr) => ( + + + {id} + + {i < arr.length - 1 && ", "} + + )) + : naLabel, + exportValue: ({ uniprotAccessions }) => (uniprotAccessions ?? []).join(", "), + }, +]; + +type BodyProps = { + id: string; + entity: string; +}; + +export function Body({ id, entity }: BodyProps) { + const variables = { + variantId: id, + }; + + const request = useQuery(VARIANT_EFFECT_PREDICTOR_QUERY, { + variables, + }); + + return ( + ( + + )} + renderBody={() => { + return ( + + ); + }} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/variant/VariantEffectPredictor/Description.tsx b/packages/sections/src/variant/VariantEffectPredictor/Description.tsx new file mode 100644 index 000000000..e5d3c19b1 --- /dev/null +++ b/packages/sections/src/variant/VariantEffectPredictor/Description.tsx @@ -0,0 +1,27 @@ +import { Link, DisplayVariantId } from "ui"; + +type DescriptionProps = { + variantId: string; + referenceAllele: string; + alternateAllele: string; +}; + +function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { + return ( + <> + Variant consequence prediction for{" "} + + + . {" "}Source:{" "} + + VEP + + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/variant/VariantEffectPredictor/Summary.tsx b/packages/sections/src/variant/VariantEffectPredictor/Summary.tsx new file mode 100644 index 000000000..34f4c85f5 --- /dev/null +++ b/packages/sections/src/variant/VariantEffectPredictor/Summary.tsx @@ -0,0 +1,19 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import VARIANT_EFFECT_PREDICTOR_SUMMARY from "./VariantEffectPredictorSummaryFragment.gql"; + +function Summary() { + + const request = usePlatformApi(VARIANT_EFFECT_PREDICTOR_SUMMARY); + + return ( + + ); +} + +Summary.fragments = { + VariantEffectPredictorSummaryFragment: VARIANT_EFFECT_PREDICTOR_SUMMARY, +}; + +export default Summary; diff --git a/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorQuery.gql b/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorQuery.gql new file mode 100644 index 000000000..2c2548254 --- /dev/null +++ b/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorQuery.gql @@ -0,0 +1,29 @@ +query VariantEffectPredictorQuery($variantId: String!) { + variant(variantId: $variantId){ + id + transcriptConsequences { + variantConsequences { + id + label + } + aminoAcidChange + uniprotAccessions + codons + distanceFromFootprint + distanceFromTss + target { + id + approvedSymbol + } + impact + consequenceScore + transcriptIndex + transcriptId + lofteePrediction + siftPrediction + polyphenPrediction + } + referenceAllele + alternateAllele + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorSummaryFragment.gql b/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorSummaryFragment.gql new file mode 100644 index 000000000..06d014097 --- /dev/null +++ b/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorSummaryFragment.gql @@ -0,0 +1,5 @@ +fragment VariantEffectPredictorSummaryFragment on Variant { + transcriptConsequences { + isEnsemblCanonical + } +} \ No newline at end of file diff --git a/packages/sections/src/variant/VariantEffectPredictor/index.ts b/packages/sections/src/variant/VariantEffectPredictor/index.ts new file mode 100644 index 000000000..ac4c2a089 --- /dev/null +++ b/packages/sections/src/variant/VariantEffectPredictor/index.ts @@ -0,0 +1,7 @@ +const id = "variant_effect_predictor"; +export const definition = { + id, + name: "Variant Effect Predictor (VEP)", + shortName: "VE", + hasData: data => data?.transcriptConsequences?.length > 0, +}; diff --git a/packages/ui/src/components/DisplayVariantId.tsx b/packages/ui/src/components/DisplayVariantId.tsx new file mode 100644 index 000000000..044dfd61a --- /dev/null +++ b/packages/ui/src/components/DisplayVariantId.tsx @@ -0,0 +1,228 @@ +import { ReactNode, useState } from "react"; +import { + Box, + Typography, + IconButton, + Snackbar, + Dialog, + DialogTitle, + DialogContent, +} from "@mui/material"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faXmark } from "@fortawesome/free-solid-svg-icons"; +import { faClipboard } from "@fortawesome/free-regular-svg-icons"; +import { Tooltip } from "ui"; +import { lighten } from "polished"; + +const highlightBackground = theme => lighten(0.4, theme.palette.primary.main); + +type DisplayVariantIdProps = { + variantId: string; + referenceAllele: string; + alternateAllele: string; + maxChars?: number; + expand?: boolean; +}; + +function DisplayVariantId({ + variantId: otVariantId, + referenceAllele, + alternateAllele, + maxChars = 6, + expand = true, +}: DisplayVariantIdProps): ReactNode { + const [open, setOpen] = useState(false); + const [snackbarOpen, setSnackbarOpen] = useState(false); + + if (!otVariantId || !referenceAllele || !alternateAllele) return null; + + function handleClick() { + setOpen(true); + } + + function handleClose() { + setOpen(false); + } + + function handleCloseSnackbar() { + setSnackbarOpen(false); + } + + function copyToClipboard(text: string) { + setSnackbarOpen(true); + navigator.clipboard.writeText(text); + } + + const idParts = otVariantId.split("_"); + if (idParts[0] === "OTVAR") { + idParts.shift(); + } + let isHashed, stem; + if (idParts.at(-2) === referenceAllele && idParts.at(-1) === alternateAllele) { + isHashed = false; + stem = idParts.slice(0, -2).join("_"); + } else { + isHashed = true; + stem = idParts.slice(0, -1).join("_"); + } + + const longReferenceAllele = referenceAllele.length > maxChars; + const longAlternateAllele = alternateAllele.length > maxChars; + + if (isHashed || longReferenceAllele || longAlternateAllele) { + return ( + <> + + {stem}_ + {longReferenceAllele ? ( + + DEL + + ) : ( + referenceAllele + )} + _ + {longAlternateAllele ? ( + + INS + + ) : ( + alternateAllele + )} + + {expand && ( + <> + + + + Variant ID + + + + + + + {isHashed && ( + + )} + + + + + + )} + + ); + } + + return `${stem}_${referenceAllele}_${alternateAllele}`; +} + +function HighlightBox({ children, hlight = true }) { + return ( + + {children} + + ); +} + +type CopyPanelProps = { + label: string; + text: string; + tooltipText?: string; + copyToClipboard: (text: string) => void; +}; + +function CopyPanel({ label, text, tooltipText, copyToClipboard }: CopyPanelProps) { + return ( + + {tooltipText ? ( + + + {label} + + + ) : ( + {label} + )} + theme.palette.grey[300], + position: "relative", + }} + > + + + copyToClipboard(text)} + sx={{ padding: "0.4em 0.5em !important" }} + > + + + + + + {text} + + + + ); +} + +export default DisplayVariantId; diff --git a/packages/ui/src/components/ExternalLink/XRefLinks.tsx b/packages/ui/src/components/ExternalLink/XRefLinks.tsx index 0a8509d51..f7b1382d2 100644 --- a/packages/ui/src/components/ExternalLink/XRefLinks.tsx +++ b/packages/ui/src/components/ExternalLink/XRefLinks.tsx @@ -12,12 +12,14 @@ const useStyles = makeStyles(theme => ({ type XRefLinksProps = { label: string; + urlBuilder?: (id: string) => string; urlStem: string; ids: string[]; + names?: string[]; limit: number; }; -function XRefLinks({ label, urlStem, ids, limit }: XRefLinksProps) { +function XRefLinks({ label, urlBuilder, urlStem, ids, names, limit }: XRefLinksProps) { const [showMore, setShowMore] = useState(false); const classes = useStyles(); const displayNone = { @@ -29,10 +31,13 @@ function XRefLinks({ label, urlStem, ids, limit }: XRefLinksProps) { {label}:{" "} {ids.map((id, i) => ( limit - 1 && !showMore ? displayNone : {}}> - - {id} - {i < ids.length - 1 ? ", " : ""} + + {names?.[i] ?? id} + {i < ids.length - 1 ? ", " : ""} ))} {ids.length > limit ? ( diff --git a/packages/ui/src/components/GlobalSearch/GlobalSearchListHeader.jsx b/packages/ui/src/components/GlobalSearch/GlobalSearchListHeader.jsx index 30ea8c3d5..24b015d16 100644 --- a/packages/ui/src/components/GlobalSearch/GlobalSearchListHeader.jsx +++ b/packages/ui/src/components/GlobalSearch/GlobalSearchListHeader.jsx @@ -58,6 +58,8 @@ function GlobalSearchListHeader({ listHeader, children }) { return ; case "targets": return ; + case "variants": + return ; case "Study": return ; case "Gene": diff --git a/packages/ui/src/components/GlobalSearch/GlobalSearchListItem.jsx b/packages/ui/src/components/GlobalSearch/GlobalSearchListItem.jsx index faac798e1..0bf0d9240 100644 --- a/packages/ui/src/components/GlobalSearch/GlobalSearchListItem.jsx +++ b/packages/ui/src/components/GlobalSearch/GlobalSearchListItem.jsx @@ -5,6 +5,7 @@ import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; import { faXmark, faClockRotateLeft, faArrowTrendUp } from "@fortawesome/free-solid-svg-icons"; import { clearRecentItem, commaSeparate } from "./utils/searchUtils"; +import DisplayVariantId from "../DisplayVariantId"; const ListItem = styled("li")(({ theme }) => ({ cursor: "pointer", @@ -82,6 +83,20 @@ const TopHitItemContainer = styled("div")(({ theme }) => ({ borderRadius: theme.spacing(1), })); +function symbolNameOrId(item) { + if (item.entity === "variant") { + return item.referenceAllele + ? + : item.id; + } + return item.symbol || item.name || item.id; +} + function SuggestionListItem({ item, onItemClick }) { return ( - {item.symbol || item.name || item.id} + {symbolNameOrId(item)} ); @@ -114,7 +129,7 @@ function RecentListItem({ item, onItemClick }) { > - {item.symbol || item.name || item.id} + {symbolNameOrId(item)} theme.palette.primary.main, }} > - {item.symbol || item.name} + {symbolNameOrId(item)} - {item.id && {item.id}} - - - {item.symbol && item.name} - - - - {item.description && `${item.description.substring(0, 180)}...`} + + {!!item.id && + + {item.entity === "variant" + ? + : item.id + } + + } - + + + {item.entity === "variant" + ? item.rsIds.length > 0 && + + {item.rsIds.join(', ')} + + : <> + + {item.symbol && item.name} + + + + {item.description && `${item.description.substring(0, 180)}...`} + + + + } ); @@ -180,8 +218,16 @@ function GlobalSearchListItem({ item, isTopHit = false, onItemClick }) { {item.name} ); - - return {item.symbol || item.name || item.id}; + return ( + <> + {symbolNameOrId(item)} + {item.entity === "variant" && item.rsIds.length > 0 && + +  ({item.rsIds.join(", ")}) + + } + + ); }; if (item.type === "recent") { @@ -208,7 +254,22 @@ function GlobalSearchListItem({ item, isTopHit = false, onItemClick }) { > {getSymbolHeader()} - {item.id && {item.id}} + + {!!item.id && + + { + item.entity === "variant" + ? + : item.id + } + + } + diff --git a/packages/ui/src/components/Section/SectionItem.tsx b/packages/ui/src/components/Section/SectionItem.tsx index a62f360f2..368b83094 100644 --- a/packages/ui/src/components/Section/SectionItem.tsx +++ b/packages/ui/src/components/Section/SectionItem.tsx @@ -16,7 +16,7 @@ type definitionType = { name: string; shortName?: string; hasData: any; - isPrivate: boolean; + isPrivate?: boolean; }; type SectionItemProps = { diff --git a/packages/ui/src/components/Summary/utils.js b/packages/ui/src/components/Summary/utils.js index 674d17055..53c15a6f5 100644 --- a/packages/ui/src/components/Summary/utils.js +++ b/packages/ui/src/components/Summary/utils.js @@ -14,10 +14,17 @@ export function createSummaryFragment(sections, entity, fragmentName) { sectionFragments.push(Summary.fragments[sectionFragmentName]); }); + const idLookup = { + Gwas: 'studyId', + credibleSet: 'studyLocusId', + } + return gql` fragment ${fragmentNameStr} on ${entity} { ${ - sectionFragmentNames.length ? sectionFragmentNames.map(sfn => `...${sfn}`).join("\n") : "id" + sectionFragmentNames.length + ? sectionFragmentNames.map(sfn => `...${sfn}`).join("\n") + : idLookup[entity] || 'id' } } ${sectionFragments.reduce( diff --git a/packages/ui/src/contexts/PlatformApiProvider.jsx b/packages/ui/src/contexts/PlatformApiProvider.jsx index 619d6fbb3..3cf0b49ac 100644 --- a/packages/ui/src/contexts/PlatformApiProvider.jsx +++ b/packages/ui/src/contexts/PlatformApiProvider.jsx @@ -6,6 +6,7 @@ import { useQuery } from "@apollo/client"; const PlatformApiContext = createContext(); function PlatformApiProvider({ entity, lsSectionsField, query, client, variables, children }) { + const request = useQuery(query, { client, variables }); const platformApiValue = useMemo( diff --git a/packages/ui/src/hooks/useListOption.js b/packages/ui/src/hooks/useListOption.js index b4fd01d22..2199d8415 100644 --- a/packages/ui/src/hooks/useListOption.js +++ b/packages/ui/src/hooks/useListOption.js @@ -16,7 +16,11 @@ function useListOption() { history.push(`/${newOption.entity}/${newOption.studyId}`); } else { history.push( - `/${newOption.entity}/${newOption.id}${newOption.entity !== "drug" ? "/associations" : ""}` + `/${newOption.entity}/${newOption.id}${ + newOption.entity !== "drug" && newOption.entity !== "variant" + ? "/associations" + : "" + }` ); } }; diff --git a/packages/ui/src/index.tsx b/packages/ui/src/index.tsx index 02557ac2d..c56cf6cfc 100644 --- a/packages/ui/src/index.tsx +++ b/packages/ui/src/index.tsx @@ -14,6 +14,7 @@ export { default as ChipList } from "./components/ChipList"; export { default as TooltipStyledLabel } from "./components/TooltipStyledLabel"; export { default as DirectionOfEffectIcon } from "./components/DirectionOfEffectIcon"; export { default as DirectionOfEffectTooltip } from "./components/DirectionOfEffectTooltip"; +export { default as DisplayVariantId } from "./components/DisplayVariantId"; export { default as LabelChip } from "./components/LabelChip"; export { default as BasePage } from "./components/BasePage"; export { default as NewChip } from "./components/NewChip"; From 79e7e35429094813bcb64d9529c0c8549f6da686 Mon Sep 17 00:00:00 2001 From: Carlos Cruz Date: Thu, 7 Nov 2024 09:59:54 +0000 Subject: [PATCH 015/120] [Platform]: fix section/table crash (#521) --- .../ui/src/components/OtTable/OtTable.tsx | 23 ++++++----------- .../ui/src/components/Section/SectionItem.tsx | 25 ++++++++++--------- 2 files changed, 21 insertions(+), 27 deletions(-) diff --git a/packages/ui/src/components/OtTable/OtTable.tsx b/packages/ui/src/components/OtTable/OtTable.tsx index ade34b5bb..e5763d013 100644 --- a/packages/ui/src/components/OtTable/OtTable.tsx +++ b/packages/ui/src/components/OtTable/OtTable.tsx @@ -95,13 +95,12 @@ function OtTable({ }: OtTableProps): ReactElement { const [globalFilter, setGlobalFilter] = useState(""); const [columnFilters, setColumnFilters] = useState([]); - const [data, setData] = useState[] | loadingTableRows[]>([]); const mappedColumns = mapTableColumnToTanstackColumns(columns); - const loadingRows = getLoadingRows(mappedColumns, 10); + // const loadingRows = getLoadingRows(mappedColumns, 10); const table = useReactTable({ - data, + data: rows, columns: mappedColumns, filterFns: { searchFilterFn: searchFilter, @@ -109,6 +108,7 @@ function OtTable({ state: { columnFilters, globalFilter, + loading, }, initialState: { sorting: getDefaultSortObj(sortBy, order), @@ -123,16 +123,6 @@ function OtTable({ getFacetedUniqueValues: getFacetedUniqueValues(), }); - function getCellData(cell: ReactNode): ReactNode { - if (loading) return ; - return <>{cell}; - } - - useEffect(() => { - const displayRows = loading ? loadingRows : rows; - setData(displayRows); - }, [loading]); - return (
{/* Global Search */} @@ -218,8 +208,11 @@ function OtTable({ return ( - {getCellData(flexRender(cell.column.columnDef.cell, cell.getContext()))} - {/* {flexRender(cell.column.columnDef.cell, cell.getContext())} */} + {table.getState().loading ? ( + + ) : ( + <>{flexRender(cell.column.columnDef.cell, cell.getContext())} + )} {/* TODO: check NA value */} {/* {Boolean(flexRender(cell.column.columnDef.cell, cell.getContext())) || naLabel} */} diff --git a/packages/ui/src/components/Section/SectionItem.tsx b/packages/ui/src/components/Section/SectionItem.tsx index 368b83094..e1193d034 100644 --- a/packages/ui/src/components/Section/SectionItem.tsx +++ b/packages/ui/src/components/Section/SectionItem.tsx @@ -40,7 +40,6 @@ function SectionItem({ request, renderDescription, renderBody, - tags, chipText, entity, showEmptySection = false, @@ -60,16 +59,6 @@ function SectionItem({ if (!hasData && !showEmptySection && !loading) return null; - function getSelectedView(): ReactNode { - if (error) return ; - if (showContentLoading && loading) - return ; - if (selectedView === VIEW.table) return renderBody(); - if (selectedView === VIEW.chart) return renderChart(); - // if (!loading && !hasData && showEmptySection) - return
No data available for this {entity}.
; - } - return (
@@ -117,7 +106,19 @@ function SectionItem({ - {getSelectedView()} + + <> + {error && } + {showContentLoading && loading && ( + + )} + {hasData && selectedView === VIEW.table && renderBody()} + {hasData && selectedView === VIEW.chart && renderChart()} + {showEmptySection && ( +
No data available for this {entity}.
+ )} + +
From c696a987e77aa20bdcb6659570a54b1de2c6da9b Mon Sep 17 00:00:00 2001 From: Carlos Cruz Date: Thu, 7 Nov 2024 15:59:10 +0000 Subject: [PATCH 016/120] [Platform]: fix Disease Ontology widget (#523) --- .../data/ontology/efo_json/diseases_efo.jsonl | 9780 +++++++++++------ .../sections/src/disease/Ontology/Body.jsx | 22 +- .../src/disease/Ontology/OntologySubgraph.jsx | 3 + 3 files changed, 6381 insertions(+), 3424 deletions(-) diff --git a/apps/platform/public/data/ontology/efo_json/diseases_efo.jsonl b/apps/platform/public/data/ontology/efo_json/diseases_efo.jsonl index 388072ccd..a9c5af05d 100644 --- a/apps/platform/public/data/ontology/efo_json/diseases_efo.jsonl +++ b/apps/platform/public/data/ontology/efo_json/diseases_efo.jsonl @@ -1,58 +1,124 @@ -{"id": "DOID_0050890", "parentIds": ["MONDO_0021179", "EFO_0005772"], "name": "synucleinopathy"} +{"id": "DOID_0050890", "parentIds": ["MONDO_0019052", "MONDO_0024237", "MONDO_0021179"], "name": "synucleinopathy"} {"id": "DOID_10113", "parentIds": ["MONDO_0002428"], "name": "trypanosomiasis"} {"id": "DOID_10718", "parentIds": ["MONDO_0002428", "EFO_0009561"], "name": "giardiasis"} {"id": "DOID_13406", "parentIds": ["MONDO_0017026", "MONDO_0019338"], "name": "pulmonary sarcoidosis"} {"id": "DOID_1947", "parentIds": ["MONDO_0002428"], "name": "trichomoniasis"} {"id": "DOID_7551", "parentIds": ["EFO_0003955", "MONDO_0000314"], "name": "gonorrhea"} -{"id": "GO_0000003", "parentIds": ["GO_0008150"], "name": "reproduction"} +{"id": "GO_0000002", "parentIds": ["GO_0006996"], "name": "mitochondrial genome maintenance"} +{"id": "GO_0000050", "parentIds": ["GO_0044271", "GO_1901566"], "name": "urea cycle"} +{"id": "GO_0000096", "parentIds": ["GO_0006790", "GO_0006082", "GO_1901564"], "name": "sulfur amino acid metabolic process"} {"id": "GO_0000226", "parentIds": ["GO_0006996"], "name": "microtubule cytoskeleton organization"} {"id": "GO_0000278", "parentIds": ["GO_0007049"], "name": "mitotic cell cycle"} +{"id": "GO_0001503", "parentIds": ["GO_0032501"], "name": "ossification"} +{"id": "GO_0001764", "parentIds": ["GO_0009987"], "name": "neuron migration"} {"id": "GO_0001775", "parentIds": ["GO_0032501", "GO_0009987"], "name": "cell activation"} +{"id": "GO_0001802", "parentIds": ["GO_0002524"], "name": "type III hypersensitivity"} +{"id": "GO_0001806", "parentIds": ["GO_0002524"], "name": "type IV hypersensitivity"} +{"id": "GO_0001867", "parentIds": ["GO_0045087", "GO_0006956"], "name": "complement activation, lectin pathway"} +{"id": "GO_0002376", "parentIds": ["GO_0008150"], "name": "immune system process"} {"id": "GO_0002445", "parentIds": ["GO_0002524"], "name": "type II hypersensitivity"} -{"id": "GO_0002524", "parentIds": ["GO_0002526"], "name": "hypersensitivity"} +{"id": "GO_0002524", "parentIds": ["GO_0002526", "GO_0002376"], "name": "hypersensitivity"} {"id": "GO_0002526", "parentIds": ["GO_0006954"], "name": "acute inflammatory response"} {"id": "GO_0002682", "parentIds": ["GO_0050789"], "name": "regulation of immune system process"} {"id": "GO_0002694", "parentIds": ["GO_0050865", "GO_0002682"], "name": "regulation of leukocyte activation"} {"id": "GO_0002695", "parentIds": ["GO_0002694"], "name": "negative regulation of leukocyte activation"} +{"id": "GO_0003006", "parentIds": ["GO_0032502", "GO_0022414"], "name": "developmental process involved in reproduction"} {"id": "GO_0003008", "parentIds": ["GO_0032501"], "name": "system process"} {"id": "GO_0003012", "parentIds": ["GO_0003008"], "name": "muscle system process"} {"id": "GO_0003014", "parentIds": ["GO_0003008"], "name": "renal system process"} +{"id": "GO_0003015", "parentIds": ["GO_0003008"], "name": "heart process"} {"id": "GO_0003092", "parentIds": ["GO_0003014"], "name": "renal water retention"} {"id": "GO_0005975", "parentIds": ["GO_0044238", "GO_0071704"], "name": "carbohydrate metabolic process"} +{"id": "GO_0005977", "parentIds": ["GO_0043170", "GO_0006091", "GO_0005975"], "name": "glycogen metabolic process"} +{"id": "GO_0005984", "parentIds": ["GO_0009311"], "name": "disaccharide metabolic process"} +{"id": "GO_0006000", "parentIds": ["GO_0005975"], "name": "fructose metabolic process"} +{"id": "GO_0006006", "parentIds": ["GO_0005975"], "name": "glucose metabolic process"} +{"id": "GO_0006012", "parentIds": ["GO_0005975"], "name": "galactose metabolic process"} +{"id": "GO_0006082", "parentIds": ["GO_0071704", "GO_0044237"], "name": "organic acid metabolic process"} +{"id": "GO_0006090", "parentIds": ["GO_0006082"], "name": "pyruvate metabolic process"} +{"id": "GO_0006091", "parentIds": ["GO_0044237"], "name": "generation of precursor metabolites and energy"} +{"id": "GO_0006094", "parentIds": ["GO_0006006", "GO_1901576"], "name": "gluconeogenesis"} +{"id": "GO_0006096", "parentIds": ["GO_0046034", "GO_0006091", "GO_0006090", "GO_0005975"], "name": "glycolytic process"} +{"id": "GO_0006099", "parentIds": ["GO_0044238"], "name": "tricarboxylic acid cycle"} +{"id": "GO_0006119", "parentIds": ["GO_0006091"], "name": "oxidative phosphorylation"} {"id": "GO_0006139", "parentIds": ["GO_0046483", "GO_1901360", "GO_0034641", "GO_0044238", "GO_0006725"], "name": "nucleobase-containing compound metabolic process"} +{"id": "GO_0006144", "parentIds": ["GO_0072521", "GO_0055086"], "name": "purine nucleobase metabolic process"} {"id": "GO_0006163", "parentIds": ["GO_0072521", "GO_0009117"], "name": "purine nucleotide metabolic process"} {"id": "GO_0006164", "parentIds": ["GO_0009165", "GO_0006163", "GO_0072522"], "name": "purine nucleotide biosynthetic process"} -{"id": "GO_0006306", "parentIds": ["GO_0044260", "GO_0043412", "GO_0006139"], "name": "DNA methylation"} +{"id": "GO_0006206", "parentIds": ["GO_1901564", "GO_0055086"], "name": "pyrimidine nucleobase metabolic process"} +{"id": "GO_0006281", "parentIds": ["GO_0006950", "GO_0051716", "GO_0043170", "GO_0006139"], "name": "DNA repair"} +{"id": "GO_0006289", "parentIds": ["GO_0006281"], "name": "nucleotide-excision repair"} {"id": "GO_0006486", "parentIds": ["GO_0043413", "GO_0036211"], "name": "protein glycosylation"} {"id": "GO_0006487", "parentIds": ["GO_0006486"], "name": "protein N-linked glycosylation"} +{"id": "GO_0006493", "parentIds": ["GO_0006486"], "name": "protein O-linked glycosylation"} +{"id": "GO_0006506", "parentIds": ["GO_0090407", "GO_0044249", "GO_0006629", "GO_1901137", "GO_0006796", "GO_0036211"], "name": "GPI anchor biosynthetic process"} +{"id": "GO_0006517", "parentIds": ["GO_0036211", "GO_0009100"], "name": "protein deglycosylation"} +{"id": "GO_0006520", "parentIds": ["GO_0044238", "GO_0071704"], "name": "amino acid metabolic process"} +{"id": "GO_0006541", "parentIds": ["GO_1901564", "GO_0006520", "GO_0006082"], "name": "glutamine metabolic process"} +{"id": "GO_0006544", "parentIds": ["GO_0009069"], "name": "glycine metabolic process"} +{"id": "GO_0006547", "parentIds": ["GO_1901564", "GO_0006082"], "name": "histidine metabolic process"} +{"id": "GO_0006558", "parentIds": ["GO_0006520", "GO_1901360", "GO_0006725", "GO_1901564", "GO_0006082"], "name": "L-phenylalanine metabolic process"} +{"id": "GO_0006560", "parentIds": ["GO_1901564", "GO_0006520", "GO_0006082"], "name": "proline metabolic process"} +{"id": "GO_0006564", "parentIds": ["GO_0044249", "GO_0009069", "GO_1901566"], "name": "L-serine biosynthetic process"} +{"id": "GO_0006568", "parentIds": ["GO_0034641", "GO_0046483", "GO_0006725", "GO_1901360", "GO_1901564", "GO_0006082", "GO_0006520"], "name": "tryptophan metabolic process"} +{"id": "GO_0006570", "parentIds": ["GO_0006520", "GO_0006082", "GO_1901360", "GO_0006725", "GO_1901564"], "name": "tyrosine metabolic process"} +{"id": "GO_0006572", "parentIds": ["GO_0006570"], "name": "tyrosine catabolic process"} +{"id": "GO_0006573", "parentIds": ["GO_0009081"], "name": "valine metabolic process"} +{"id": "GO_0006591", "parentIds": ["GO_1901564", "GO_0006520", "GO_0006082"], "name": "ornithine metabolic process"} +{"id": "GO_0006600", "parentIds": ["GO_1901564", "GO_0006082"], "name": "creatine metabolic process"} +{"id": "GO_0006601", "parentIds": ["GO_1901566", "GO_0044249", "GO_0006600"], "name": "creatine biosynthetic process"} {"id": "GO_0006629", "parentIds": ["GO_0071704", "GO_0044238"], "name": "lipid metabolic process"} +{"id": "GO_0006631", "parentIds": ["GO_0006629", "GO_0006082"], "name": "fatty acid metabolic process"} +{"id": "GO_0006665", "parentIds": ["GO_1901564", "GO_0044237", "GO_0006629"], "name": "sphingolipid metabolic process"} +{"id": "GO_0006694", "parentIds": ["GO_0008202", "GO_1901362"], "name": "steroid biosynthetic process"} +{"id": "GO_0006695", "parentIds": ["GO_0008203", "GO_0016126"], "name": "cholesterol biosynthetic process"} +{"id": "GO_0006699", "parentIds": ["GO_0006082", "GO_0006694", "GO_0044249"], "name": "bile acid biosynthetic process"} +{"id": "GO_0006707", "parentIds": ["GO_0008203", "GO_0016042"], "name": "cholesterol catabolic process"} {"id": "GO_0006725", "parentIds": ["GO_0044237"], "name": "cellular aromatic compound metabolic process"} +{"id": "GO_0006744", "parentIds": ["GO_1901576", "GO_0044249"], "name": "ubiquinone biosynthetic process"} +{"id": "GO_0006749", "parentIds": ["GO_1901564", "GO_0006790"], "name": "glutathione metabolic process"} {"id": "GO_0006753", "parentIds": ["GO_0055086", "GO_0019637", "GO_0006796"], "name": "nucleoside phosphate metabolic process"} {"id": "GO_0006754", "parentIds": ["GO_0046034", "GO_0009152", "GO_0009206"], "name": "ATP biosynthetic process"} {"id": "GO_0006766", "parentIds": ["GO_0008152"], "name": "vitamin metabolic process"} -{"id": "GO_0006768", "parentIds": ["GO_1901564", "GO_1901360", "GO_0006766", "GO_0046483"], "name": "biotin metabolic process"} -{"id": "GO_0006772", "parentIds": ["GO_1901564", "GO_1901360", "GO_0046483", "GO_0006725", "GO_0006766", "GO_0034641"], "name": "thiamine metabolic process"} +{"id": "GO_0006768", "parentIds": ["GO_1901564", "GO_1901360", "GO_0006790", "GO_0006766", "GO_0006082", "GO_0046483"], "name": "biotin metabolic process"} +{"id": "GO_0006772", "parentIds": ["GO_1901564", "GO_1901360", "GO_0006790", "GO_0046483", "GO_0006725", "GO_0006766", "GO_0034641"], "name": "thiamine metabolic process"} {"id": "GO_0006776", "parentIds": ["GO_0044237", "GO_0006766", "GO_0006629"], "name": "vitamin A metabolic process"} +{"id": "GO_0006778", "parentIds": ["GO_0006725", "GO_0046483", "GO_1901564", "GO_1901360"], "name": "porphyrin-containing compound metabolic process"} +{"id": "GO_0006790", "parentIds": ["GO_0044237"], "name": "sulfur compound metabolic process"} {"id": "GO_0006793", "parentIds": ["GO_0044237"], "name": "phosphorus metabolic process"} {"id": "GO_0006796", "parentIds": ["GO_0006793"], "name": "phosphate-containing compound metabolic process"} {"id": "GO_0006807", "parentIds": ["GO_0008152"], "name": "nitrogen compound metabolic process"} {"id": "GO_0006810", "parentIds": ["GO_0051234"], "name": "transport"} +{"id": "GO_0006826", "parentIds": ["GO_0006810"], "name": "iron ion transport"} +{"id": "GO_0006878", "parentIds": ["GO_0042592"], "name": "intracellular copper ion homeostasis"} +{"id": "GO_0006885", "parentIds": ["GO_0042592"], "name": "regulation of pH"} +{"id": "GO_0006909", "parentIds": ["GO_0006810", "GO_0009987"], "name": "phagocytosis"} +{"id": "GO_0006911", "parentIds": ["GO_0016043"], "name": "phagocytosis, engulfment"} {"id": "GO_0006915", "parentIds": ["GO_0008219"], "name": "apoptotic process"} {"id": "GO_0006937", "parentIds": ["GO_0090257"], "name": "regulation of muscle contraction"} {"id": "GO_0006939", "parentIds": ["GO_0003012"], "name": "smooth muscle contraction"} {"id": "GO_0006950", "parentIds": ["GO_0050896"], "name": "response to stress"} {"id": "GO_0006954", "parentIds": ["GO_0006950"], "name": "inflammatory response"} +{"id": "GO_0006956", "parentIds": ["GO_0002682", "GO_0050896", "GO_0048583", "GO_0002376"], "name": "complement activation"} {"id": "GO_0006970", "parentIds": ["GO_0006950", "GO_0009628"], "name": "response to osmotic stress"} {"id": "GO_0006996", "parentIds": ["GO_0016043"], "name": "organelle organization"} +{"id": "GO_0007041", "parentIds": ["GO_0051649", "GO_0051641", "GO_0006810"], "name": "lysosomal transport"} {"id": "GO_0007049", "parentIds": ["GO_0009987"], "name": "cell cycle"} {"id": "GO_0007051", "parentIds": ["GO_0022402", "GO_0000226"], "name": "spindle organization"} {"id": "GO_0007052", "parentIds": ["GO_0007051"], "name": "mitotic spindle organization"} {"id": "GO_0007088", "parentIds": ["GO_0051726"], "name": "regulation of mitotic nuclear division"} {"id": "GO_0007154", "parentIds": ["GO_0009987"], "name": "cell communication"} {"id": "GO_0007165", "parentIds": ["GO_0050794", "GO_0009987"], "name": "signal transduction"} +{"id": "GO_0007249", "parentIds": ["GO_0007165"], "name": "canonical NF-kappaB signal transduction"} +{"id": "GO_0007265", "parentIds": ["GO_0007165"], "name": "Ras protein signal transduction"} +{"id": "GO_0007411", "parentIds": ["GO_0016043"], "name": "axon guidance"} {"id": "GO_0007417", "parentIds": ["GO_0048731"], "name": "central nervous system development"} {"id": "GO_0007420", "parentIds": ["GO_0048513"], "name": "brain development"} -{"id": "GO_0007568", "parentIds": ["GO_0032502"], "name": "aging"} +{"id": "GO_0007499", "parentIds": ["GO_0050789", "GO_0007154"], "name": "ectoderm and mesoderm interaction"} +{"id": "GO_0007507", "parentIds": ["GO_0048513"], "name": "heart development"} +{"id": "GO_0007548", "parentIds": ["GO_0003006"], "name": "sex differentiation"} +{"id": "GO_0007565", "parentIds": ["GO_0022414", "GO_0032501"], "name": "female pregnancy"} +{"id": "GO_0007585", "parentIds": ["GO_0032501"], "name": "respiratory gaseous exchange by respiratory system"} {"id": "GO_0007586", "parentIds": ["GO_0032501"], "name": "digestion"} {"id": "GO_0007588", "parentIds": ["GO_0003008"], "name": "excretion"} {"id": "GO_0007596", "parentIds": ["GO_0032501"], "name": "blood coagulation"} @@ -61,15 +127,28 @@ {"id": "GO_0007605", "parentIds": ["GO_0007600"], "name": "sensory perception of sound"} {"id": "GO_0007608", "parentIds": ["GO_0007600"], "name": "sensory perception of smell"} {"id": "GO_0007610", "parentIds": ["GO_0032501"], "name": "behavior"} +{"id": "GO_0007613", "parentIds": ["GO_0007610", "GO_0003008"], "name": "memory"} +{"id": "GO_0007623", "parentIds": ["GO_0008150"], "name": "circadian rhythm"} +{"id": "GO_0008015", "parentIds": ["GO_0003008"], "name": "blood circulation"} {"id": "GO_0008016", "parentIds": ["GO_0044057"], "name": "regulation of heart contraction"} {"id": "GO_0008104", "parentIds": ["GO_0051641"], "name": "protein localization"} {"id": "GO_0008150", "parentIds": [], "name": "biological_process"} {"id": "GO_0008152", "parentIds": ["GO_0008150"], "name": "metabolic process"} {"id": "GO_0008202", "parentIds": ["GO_1901360", "GO_0006629"], "name": "steroid metabolic process"} +{"id": "GO_0008203", "parentIds": ["GO_0016125"], "name": "cholesterol metabolic process"} {"id": "GO_0008219", "parentIds": ["GO_0009987"], "name": "cell death"} {"id": "GO_0008283", "parentIds": ["GO_0009987"], "name": "cell population proliferation"} +{"id": "GO_0008611", "parentIds": ["GO_0006629", "GO_1901576", "GO_0044249"], "name": "ether lipid biosynthetic process"} +{"id": "GO_0008614", "parentIds": ["GO_0046483", "GO_1901360", "GO_0006725", "GO_1901564", "GO_0034641", "GO_0006766"], "name": "pyridoxine metabolic process"} +{"id": "GO_0008643", "parentIds": ["GO_0006810"], "name": "carbohydrate transport"} {"id": "GO_0009058", "parentIds": ["GO_0008152"], "name": "biosynthetic process"} -{"id": "GO_0009101", "parentIds": ["GO_0044249", "GO_1901566", "GO_0019538", "GO_1901137", "GO_0044260"], "name": "glycoprotein biosynthetic process"} +{"id": "GO_0009066", "parentIds": ["GO_1901564", "GO_0006520", "GO_0006082"], "name": "aspartate family amino acid metabolic process"} +{"id": "GO_0009069", "parentIds": ["GO_1901564", "GO_0006520", "GO_0006082"], "name": "serine family amino acid metabolic process"} +{"id": "GO_0009081", "parentIds": ["GO_1901564", "GO_0006520", "GO_0006082"], "name": "branched-chain amino acid metabolic process"} +{"id": "GO_0009087", "parentIds": ["GO_0000096", "GO_0009066"], "name": "methionine catabolic process"} +{"id": "GO_0009100", "parentIds": ["GO_1901135", "GO_0019538"], "name": "glycoprotein metabolic process"} +{"id": "GO_0009101", "parentIds": ["GO_0044249", "GO_1901566", "GO_1901137", "GO_0009100"], "name": "glycoprotein biosynthetic process"} +{"id": "GO_0009107", "parentIds": ["GO_0018130", "GO_1901362", "GO_0006631", "GO_0006790"], "name": "lipoate biosynthetic process"} {"id": "GO_0009116", "parentIds": ["GO_1901564", "GO_1901657", "GO_0055086"], "name": "nucleoside metabolic process"} {"id": "GO_0009117", "parentIds": ["GO_0006753"], "name": "nucleotide metabolic process"} {"id": "GO_0009119", "parentIds": ["GO_0009116"], "name": "ribonucleoside metabolic process"} @@ -97,64 +176,97 @@ {"id": "GO_0009259", "parentIds": ["GO_0019693", "GO_0009117"], "name": "ribonucleotide metabolic process"} {"id": "GO_0009260", "parentIds": ["GO_0009165", "GO_0046390", "GO_0009259"], "name": "ribonucleotide biosynthetic process"} {"id": "GO_0009306", "parentIds": ["GO_0032940", "GO_0015031"], "name": "protein secretion"} +{"id": "GO_0009311", "parentIds": ["GO_0005975"], "name": "oligosaccharide metabolic process"} {"id": "GO_0009314", "parentIds": ["GO_0009628"], "name": "response to radiation"} {"id": "GO_0009408", "parentIds": ["GO_0006950", "GO_0009628"], "name": "response to heat"} {"id": "GO_0009409", "parentIds": ["GO_0009628", "GO_0006950"], "name": "response to cold"} {"id": "GO_0009410", "parentIds": ["GO_0050896"], "name": "response to xenobiotic stimulus"} {"id": "GO_0009414", "parentIds": ["GO_0009415", "GO_0006950"], "name": "response to water deprivation"} {"id": "GO_0009415", "parentIds": ["GO_0009628"], "name": "response to water"} +{"id": "GO_0009450", "parentIds": ["GO_0006520", "GO_0006082", "GO_1901564"], "name": "gamma-aminobutyric acid catabolic process"} {"id": "GO_0009611", "parentIds": ["GO_0006950"], "name": "response to wounding"} {"id": "GO_0009615", "parentIds": ["GO_0050896", "GO_0044419"], "name": "response to virus"} {"id": "GO_0009628", "parentIds": ["GO_0050896"], "name": "response to abiotic stimulus"} -{"id": "GO_0009856", "parentIds": ["GO_0008150"], "name": "pollination"} +{"id": "GO_0009755", "parentIds": ["GO_0007165"], "name": "hormone-mediated signaling pathway"} +{"id": "GO_0009856", "parentIds": ["GO_0022414"], "name": "pollination"} {"id": "GO_0009987", "parentIds": ["GO_0008150"], "name": "cellular process"} {"id": "GO_0010226", "parentIds": ["GO_0050896"], "name": "response to lithium ion"} -{"id": "GO_0010468", "parentIds": ["GO_0050789"], "name": "regulation of gene expression"} +{"id": "GO_0010468", "parentIds": ["GO_0050794"], "name": "regulation of gene expression"} {"id": "GO_0010543", "parentIds": ["GO_0050865"], "name": "regulation of platelet activation"} {"id": "GO_0010876", "parentIds": ["GO_0008150"], "name": "lipid localization"} {"id": "GO_0010960", "parentIds": ["GO_0042592"], "name": "magnesium ion homeostasis"} +{"id": "GO_0014032", "parentIds": ["GO_0032502", "GO_0009987"], "name": "neural crest cell development"} {"id": "GO_0014072", "parentIds": ["EFO_0008541"], "name": "response to isoquinoline alkaloid"} {"id": "GO_0014831", "parentIds": ["GO_0006939"], "name": "gastro-intestinal system smooth muscle contraction"} {"id": "GO_0014848", "parentIds": ["GO_0006939"], "name": "urinary tract smooth muscle contraction"} {"id": "GO_0015031", "parentIds": ["GO_0045184", "GO_0006810"], "name": "protein transport"} +{"id": "GO_0015693", "parentIds": ["GO_0006810"], "name": "magnesium ion transport"} +{"id": "GO_0015723", "parentIds": ["GO_0006810"], "name": "bilirubin transport"} +{"id": "GO_0015804", "parentIds": ["GO_0006810"], "name": "neutral amino acid transport"} {"id": "GO_0015884", "parentIds": ["GO_0051180"], "name": "folic acid transport"} -{"id": "GO_0015939", "parentIds": ["GO_0006766", "GO_1901564", "GO_0044237"], "name": "pantothenate metabolic process"} +{"id": "GO_0015888", "parentIds": ["GO_0051180"], "name": "thiamine transport"} +{"id": "GO_0015889", "parentIds": ["GO_0051180"], "name": "cobalamin transport"} +{"id": "GO_0015939", "parentIds": ["GO_0006766", "GO_1901564", "GO_0006082"], "name": "pantothenate metabolic process"} +{"id": "GO_0016042", "parentIds": ["GO_0006629"], "name": "lipid catabolic process"} {"id": "GO_0016043", "parentIds": ["GO_0009987"], "name": "cellular component organization"} +{"id": "GO_0016068", "parentIds": ["GO_0002524"], "name": "type I hypersensitivity"} {"id": "GO_0016119", "parentIds": ["GO_0044237", "GO_0006629"], "name": "carotene metabolic process"} +{"id": "GO_0016125", "parentIds": ["GO_0008202"], "name": "sterol metabolic process"} +{"id": "GO_0016126", "parentIds": ["GO_0006694", "GO_0016125"], "name": "sterol biosynthetic process"} {"id": "GO_0018130", "parentIds": ["GO_0044249", "GO_0046483"], "name": "heterocycle biosynthetic process"} +{"id": "GO_0019229", "parentIds": ["GO_0044057", "GO_0003008"], "name": "regulation of vasoconstriction"} {"id": "GO_0019233", "parentIds": ["GO_0007600"], "name": "sensory perception of pain"} +{"id": "GO_0019395", "parentIds": ["GO_0006631"], "name": "fatty acid oxidation"} {"id": "GO_0019438", "parentIds": ["GO_0006725", "GO_0044249"], "name": "aromatic compound biosynthetic process"} {"id": "GO_0019538", "parentIds": ["GO_1901564", "GO_0044238", "GO_0043170"], "name": "protein metabolic process"} {"id": "GO_0019637", "parentIds": ["GO_0071704", "GO_0006793"], "name": "organophosphate metabolic process"} {"id": "GO_0019693", "parentIds": ["GO_1901135", "GO_0019637", "GO_0006796"], "name": "ribose phosphate metabolic process"} +{"id": "GO_0019853", "parentIds": ["GO_0006082", "GO_0018130", "GO_0006766", "GO_0005975", "GO_1901362"], "name": "L-ascorbic acid biosynthetic process"} +{"id": "GO_0019915", "parentIds": ["GO_0008150"], "name": "lipid storage"} {"id": "GO_0022402", "parentIds": ["GO_0009987"], "name": "cell cycle process"} +{"id": "GO_0022414", "parentIds": ["GO_0008150"], "name": "reproductive process"} +{"id": "GO_0023035", "parentIds": ["GO_0007165"], "name": "CD40 signaling pathway"} +{"id": "GO_0030073", "parentIds": ["GO_0046879", "GO_0009306"], "name": "insulin secretion"} {"id": "GO_0030101", "parentIds": ["GO_0045321"], "name": "natural killer cell activation"} +{"id": "GO_0030103", "parentIds": ["GO_0046879"], "name": "vasopressin secretion"} {"id": "GO_0030155", "parentIds": ["GO_0050794"], "name": "regulation of cell adhesion"} {"id": "GO_0030157", "parentIds": ["GO_0006810", "GO_0003008"], "name": "pancreatic juice secretion"} {"id": "GO_0030168", "parentIds": ["GO_0001775"], "name": "platelet activation"} +{"id": "GO_0030195", "parentIds": ["GO_0061045"], "name": "negative regulation of blood coagulation"} {"id": "GO_0030218", "parentIds": ["GO_0032502", "GO_0009987"], "name": "erythrocyte differentiation"} {"id": "GO_0030252", "parentIds": ["GO_0046879"], "name": "growth hormone secretion"} +{"id": "GO_0030416", "parentIds": ["GO_1901564"], "name": "methylamine metabolic process"} {"id": "GO_0030431", "parentIds": ["GO_0032501"], "name": "sleep"} -{"id": "GO_0030728", "parentIds": ["GO_0008150"], "name": "ovulation"} +{"id": "GO_0030521", "parentIds": ["GO_0009755"], "name": "androgen receptor signaling pathway"} +{"id": "GO_0030728", "parentIds": ["GO_0022414"], "name": "ovulation"} +{"id": "GO_0031424", "parentIds": ["GO_0032501"], "name": "keratinization"} {"id": "GO_0031427", "parentIds": ["GO_0050896"], "name": "response to methotrexate"} {"id": "GO_0031644", "parentIds": ["GO_0044057"], "name": "regulation of nervous system process"} {"id": "GO_0031960", "parentIds": ["GO_0050896"], "name": "response to corticosteroid"} +{"id": "GO_0032274", "parentIds": ["GO_0046879"], "name": "gonadotropin secretion"} {"id": "GO_0032276", "parentIds": ["GO_0046883", "GO_0044057"], "name": "regulation of gonadotropin secretion"} {"id": "GO_0032277", "parentIds": ["GO_0032276"], "name": "negative regulation of gonadotropin secretion"} {"id": "GO_0032501", "parentIds": ["GO_0008150"], "name": "multicellular organismal process"} {"id": "GO_0032502", "parentIds": ["GO_0008150"], "name": "developmental process"} {"id": "GO_0032940", "parentIds": ["GO_0009987", "GO_0006810"], "name": "secretion by cell"} {"id": "GO_0033273", "parentIds": ["GO_0050896"], "name": "response to vitamin"} +{"id": "GO_0033280", "parentIds": ["GO_0033273"], "name": "response to vitamin D"} +{"id": "GO_0033490", "parentIds": ["GO_0006695"], "name": "cholesterol biosynthetic process via lathosterol"} {"id": "GO_0033687", "parentIds": ["GO_0008283"], "name": "osteoblast proliferation"} {"id": "GO_0034097", "parentIds": ["GO_0050896"], "name": "response to cytokine"} -{"id": "GO_0034641", "parentIds": ["GO_0044237", "GO_0006807"], "name": "cellular nitrogen compound metabolic process"} -{"id": "GO_0034654", "parentIds": ["GO_0019438", "GO_0044271", "GO_1901362", "GO_0006139", "GO_0018130"], "name": "nucleobase-containing compound biosynthetic process"} +{"id": "GO_0034101", "parentIds": ["GO_0042592", "GO_0002376", "GO_0032501"], "name": "erythrocyte homeostasis"} +{"id": "GO_0034641", "parentIds": ["GO_0006807", "GO_0044237"], "name": "cellular nitrogen compound metabolic process"} +{"id": "GO_0034651", "parentIds": ["GO_0044249", "GO_0006694"], "name": "cortisol biosynthetic process"} +{"id": "GO_0034654", "parentIds": ["GO_0019438", "GO_1901362", "GO_0006139", "GO_0018130"], "name": "nucleobase-containing compound biosynthetic process"} +{"id": "GO_0035176", "parentIds": ["GO_0007610"], "name": "social behavior"} {"id": "GO_0035456", "parentIds": ["EFO_0007859"], "name": "response to interferon-beta"} {"id": "GO_0035483", "parentIds": ["GO_0003008"], "name": "gastric emptying"} +{"id": "GO_0035773", "parentIds": ["GO_0051649", "GO_0030073"], "name": "insulin secretion involved in cellular response to glucose stimulus"} {"id": "GO_0035812", "parentIds": ["GO_0007588", "GO_0003014"], "name": "renal sodium excretion"} {"id": "GO_0035813", "parentIds": ["GO_0044062"], "name": "regulation of renal sodium excretion"} {"id": "GO_0035814", "parentIds": ["GO_0035813"], "name": "negative regulation of renal sodium excretion"} {"id": "GO_0035815", "parentIds": ["GO_0035813"], "name": "positive regulation of renal sodium excretion"} +{"id": "GO_0035898", "parentIds": ["GO_0046879"], "name": "parathyroid hormone secretion"} {"id": "GO_0035932", "parentIds": ["GO_0046879"], "name": "aldosterone secretion"} {"id": "GO_0036211", "parentIds": ["GO_0043412", "GO_0019538"], "name": "protein modification process"} {"id": "GO_0036270", "parentIds": ["GO_0050896"], "name": "response to diuretic"} @@ -177,6 +289,8 @@ {"id": "GO_0042322", "parentIds": ["GO_0042752"], "name": "negative regulation of circadian sleep/wake cycle, REM sleep"} {"id": "GO_0042359", "parentIds": ["GO_0008202"], "name": "vitamin D metabolic process"} {"id": "GO_0042360", "parentIds": ["GO_0046483", "GO_0006766", "GO_1901360"], "name": "vitamin E metabolic process"} +{"id": "GO_0042403", "parentIds": ["GO_1901564", "GO_1901360", "GO_0006725"], "name": "thyroid hormone metabolic process"} +{"id": "GO_0042423", "parentIds": ["GO_1901566", "GO_0019438", "GO_1901362", "GO_0044271"], "name": "catecholamine biosynthetic process"} {"id": "GO_0042451", "parentIds": ["GO_0072522", "GO_0042278", "GO_0009163"], "name": "purine nucleoside biosynthetic process"} {"id": "GO_0042455", "parentIds": ["GO_0009119", "GO_0009163"], "name": "ribonucleoside biosynthetic process"} {"id": "GO_0042476", "parentIds": ["GO_0032502"], "name": "odontogenesis"} @@ -184,46 +298,62 @@ {"id": "GO_0042592", "parentIds": ["GO_0008150"], "name": "homeostatic process"} {"id": "GO_0042593", "parentIds": ["GO_0042592"], "name": "glucose homeostasis"} {"id": "GO_0042630", "parentIds": ["GO_0007610"], "name": "behavioral response to water deprivation"} -{"id": "GO_0042747", "parentIds": ["GO_0007610"], "name": "circadian sleep/wake cycle, REM sleep"} -{"id": "GO_0042748", "parentIds": ["GO_0007610"], "name": "circadian sleep/wake cycle, non-REM sleep"} +{"id": "GO_0042640", "parentIds": ["GO_0008150"], "name": "anagen"} +{"id": "GO_0042697", "parentIds": ["GO_0008150"], "name": "menopause"} +{"id": "GO_0042713", "parentIds": ["GO_0022414"], "name": "sperm ejaculation"} +{"id": "GO_0042747", "parentIds": ["GO_0007623", "GO_0007610"], "name": "circadian sleep/wake cycle, REM sleep"} +{"id": "GO_0042748", "parentIds": ["GO_0007623", "GO_0007610"], "name": "circadian sleep/wake cycle, non-REM sleep"} {"id": "GO_0042752", "parentIds": ["GO_0050789"], "name": "regulation of circadian rhythm"} -{"id": "GO_0043084", "parentIds": ["GO_0008150"], "name": "penile erection"} +{"id": "GO_0043084", "parentIds": ["GO_0022414"], "name": "penile erection"} {"id": "GO_0043170", "parentIds": ["GO_0071704"], "name": "macromolecule metabolic process"} +{"id": "GO_0043217", "parentIds": ["GO_0016043"], "name": "myelin maintenance"} {"id": "GO_0043278", "parentIds": ["GO_0014072"], "name": "response to morphine"} {"id": "GO_0043400", "parentIds": ["GO_0046879"], "name": "cortisol secretion"} {"id": "GO_0043412", "parentIds": ["GO_0043170"], "name": "macromolecule modification"} {"id": "GO_0043413", "parentIds": ["GO_0070085", "GO_0043412"], "name": "macromolecule glycosylation"} +{"id": "GO_0043484", "parentIds": ["GO_0010468"], "name": "regulation of RNA splicing"} +{"id": "GO_0043574", "parentIds": ["GO_0051649", "GO_0051641", "GO_0006810"], "name": "peroxisomal transport"} {"id": "GO_0044057", "parentIds": ["GO_0050789"], "name": "regulation of system process"} {"id": "GO_0044058", "parentIds": ["GO_0044057"], "name": "regulation of digestive system process"} {"id": "GO_0044062", "parentIds": ["GO_0051046", "GO_0044057"], "name": "regulation of excretion"} {"id": "GO_0044237", "parentIds": ["GO_0009987", "GO_0008152"], "name": "cellular metabolic process"} {"id": "GO_0044238", "parentIds": ["GO_0008152"], "name": "primary metabolic process"} {"id": "GO_0044249", "parentIds": ["GO_0044237", "GO_0009058"], "name": "cellular biosynthetic process"} -{"id": "GO_0044260", "parentIds": ["GO_0044237", "GO_0043170"], "name": "cellular macromolecule metabolic process"} {"id": "GO_0044271", "parentIds": ["GO_0044249", "GO_0034641"], "name": "cellular nitrogen compound biosynthetic process"} +{"id": "GO_0044381", "parentIds": ["GO_1904659"], "name": "glucose import in response to insulin stimulus"} {"id": "GO_0044403", "parentIds": ["GO_0044419"], "name": "biological process involved in symbiotic interaction"} {"id": "GO_0044419", "parentIds": ["GO_0008150"], "name": "biological process involved in interspecies interaction between organisms"} {"id": "GO_0044691", "parentIds": ["GO_0032502"], "name": "tooth eruption"} +{"id": "GO_0045061", "parentIds": ["GO_0002376"], "name": "thymic T cell selection"} +{"id": "GO_0045087", "parentIds": ["GO_0006950", "GO_0044419", "GO_0002376"], "name": "innate immune response"} {"id": "GO_0045184", "parentIds": ["GO_0051234", "GO_0008104"], "name": "establishment of protein localization"} -{"id": "GO_0045321", "parentIds": ["GO_0001775"], "name": "leukocyte activation"} +{"id": "GO_0045321", "parentIds": ["GO_0001775", "GO_0002376"], "name": "leukocyte activation"} +{"id": "GO_0045453", "parentIds": ["GO_0042592", "GO_0032501"], "name": "bone resorption"} {"id": "GO_0045822", "parentIds": ["GO_0008016"], "name": "negative regulation of heart contraction"} {"id": "GO_0045823", "parentIds": ["GO_0008016"], "name": "positive regulation of heart contraction"} {"id": "GO_0045839", "parentIds": ["GO_0007088"], "name": "negative regulation of mitotic nuclear division"} {"id": "GO_0046034", "parentIds": ["GO_0009205", "GO_0009150"], "name": "ATP metabolic process"} +{"id": "GO_0046110", "parentIds": ["GO_0006144"], "name": "xanthine metabolic process"} {"id": "GO_0046128", "parentIds": ["GO_0042278", "GO_0009119"], "name": "purine ribonucleoside metabolic process"} {"id": "GO_0046129", "parentIds": ["GO_0042455", "GO_0046128", "GO_0042451"], "name": "purine ribonucleoside biosynthetic process"} +{"id": "GO_0046146", "parentIds": ["GO_0006725", "GO_1901360", "GO_1901564", "GO_0046483"], "name": "tetrahydrobiopterin metabolic process"} {"id": "GO_0046390", "parentIds": ["GO_0019693", "GO_1901137", "GO_0090407"], "name": "ribose phosphate biosynthetic process"} {"id": "GO_0046483", "parentIds": ["GO_0044237"], "name": "heterocycle metabolic process"} -{"id": "GO_0046655", "parentIds": ["GO_1901564", "GO_0046483", "GO_1901360", "GO_0006725", "GO_0006766"], "name": "folic acid metabolic process"} +{"id": "GO_0046655", "parentIds": ["GO_1901564", "GO_0046483", "GO_0006082", "GO_1901360", "GO_0006725", "GO_0006766"], "name": "folic acid metabolic process"} {"id": "GO_0046677", "parentIds": ["GO_0050896"], "name": "response to antibiotic"} +{"id": "GO_0046849", "parentIds": ["GO_0032501"], "name": "bone remodeling"} {"id": "GO_0046877", "parentIds": ["GO_0051046", "GO_0044058"], "name": "regulation of saliva secretion"} {"id": "GO_0046878", "parentIds": ["GO_0046877"], "name": "positive regulation of saliva secretion"} {"id": "GO_0046879", "parentIds": ["GO_0032940"], "name": "hormone secretion"} {"id": "GO_0046883", "parentIds": ["GO_0051046", "GO_0050794"], "name": "regulation of hormone secretion"} +{"id": "GO_0046952", "parentIds": ["GO_0006091", "GO_0016042"], "name": "ketone body catabolic process"} {"id": "GO_0048103", "parentIds": ["GO_0051301"], "name": "somatic stem cell division"} {"id": "GO_0048513", "parentIds": ["GO_0032502"], "name": "animal organ development"} {"id": "GO_0048583", "parentIds": ["GO_0050789"], "name": "regulation of response to stimulus"} +{"id": "GO_0048598", "parentIds": ["GO_0032502"], "name": "embryonic morphogenesis"} {"id": "GO_0048731", "parentIds": ["GO_0032502"], "name": "system development"} +{"id": "GO_0050432", "parentIds": ["GO_0032940"], "name": "catecholamine secretion"} +{"id": "GO_0050667", "parentIds": ["GO_0006520", "GO_0000096"], "name": "homocysteine metabolic process"} {"id": "GO_0050708", "parentIds": ["GO_0051046", "GO_0050794"], "name": "regulation of protein secretion"} {"id": "GO_0050727", "parentIds": ["GO_0048583"], "name": "regulation of inflammatory response"} {"id": "GO_0050728", "parentIds": ["GO_0050727"], "name": "negative regulation of inflammatory response"} @@ -232,15 +362,21 @@ {"id": "GO_0050789", "parentIds": ["GO_0008150"], "name": "regulation of biological process"} {"id": "GO_0050794", "parentIds": ["GO_0050789"], "name": "regulation of cellular process"} {"id": "GO_0050865", "parentIds": ["GO_0050794"], "name": "regulation of cell activation"} +{"id": "GO_0050886", "parentIds": ["GO_0003008"], "name": "endocrine process"} +{"id": "GO_0050892", "parentIds": ["GO_0003008"], "name": "intestinal absorption"} {"id": "GO_0050896", "parentIds": ["GO_0008150"], "name": "response to stimulus"} +{"id": "GO_0050905", "parentIds": ["GO_0003008"], "name": "neuromuscular process"} {"id": "GO_0050909", "parentIds": ["GO_0007600"], "name": "sensory perception of taste"} {"id": "GO_0050913", "parentIds": ["GO_0050909"], "name": "sensory perception of bitter taste"} {"id": "GO_0050916", "parentIds": ["GO_0050909"], "name": "sensory perception of sweet taste"} +{"id": "GO_0050957", "parentIds": ["GO_0007600"], "name": "equilibrioception"} {"id": "GO_0051046", "parentIds": ["GO_0050789"], "name": "regulation of secretion"} {"id": "GO_0051180", "parentIds": ["GO_0006810"], "name": "vitamin transport"} {"id": "GO_0051234", "parentIds": ["GO_0008150"], "name": "establishment of localization"} {"id": "GO_0051301", "parentIds": ["GO_0009987"], "name": "cell division"} +{"id": "GO_0051321", "parentIds": ["GO_0022414", "GO_0007049"], "name": "meiotic cell cycle"} {"id": "GO_0051384", "parentIds": ["GO_0031960"], "name": "response to glucocorticoid"} +{"id": "GO_0051458", "parentIds": ["GO_0046879"], "name": "corticotropin secretion"} {"id": "GO_0051641", "parentIds": ["GO_0009987"], "name": "cellular localization"} {"id": "GO_0051646", "parentIds": ["GO_0008150"], "name": "mitochondrion localization"} {"id": "GO_0051649", "parentIds": ["GO_0051234"], "name": "establishment of localization in cell"} @@ -249,43 +385,56 @@ {"id": "GO_0051726", "parentIds": ["GO_0050794"], "name": "regulation of cell cycle"} {"id": "GO_0051930", "parentIds": ["GO_0031644"], "name": "regulation of sensory perception of pain"} {"id": "GO_0055062", "parentIds": ["GO_0042592"], "name": "phosphate ion homeostasis"} -{"id": "GO_0055069", "parentIds": ["GO_0042592"], "name": "zinc ion homeostasis"} {"id": "GO_0055074", "parentIds": ["GO_0042592"], "name": "calcium ion homeostasis"} +{"id": "GO_0055078", "parentIds": ["GO_0042592"], "name": "sodium ion homeostasis"} {"id": "GO_0055086", "parentIds": ["GO_0006139"], "name": "nucleobase-containing small molecule metabolic process"} {"id": "GO_0060004", "parentIds": ["GO_0050896"], "name": "reflex"} +{"id": "GO_0060037", "parentIds": ["GO_0048731"], "name": "pharyngeal system development"} {"id": "GO_0060073", "parentIds": ["GO_0007588", "GO_0003014"], "name": "micturition"} {"id": "GO_0060087", "parentIds": ["GO_0003012", "GO_0006937"], "name": "relaxation of vascular associated smooth muscle"} {"id": "GO_0060278", "parentIds": ["GO_0050789"], "name": "regulation of ovulation"} {"id": "GO_0060279", "parentIds": ["GO_0060278"], "name": "positive regulation of ovulation"} +{"id": "GO_0060348", "parentIds": ["GO_0048513"], "name": "bone development"} {"id": "GO_0060453", "parentIds": ["GO_0051046", "GO_0044058"], "name": "regulation of gastric acid secretion"} {"id": "GO_0060454", "parentIds": ["GO_0060453"], "name": "positive regulation of gastric acid secretion"} {"id": "GO_0060455", "parentIds": ["GO_0060453"], "name": "negative regulation of gastric acid secretion"} {"id": "GO_0061041", "parentIds": ["GO_0048583"], "name": "regulation of wound healing"} {"id": "GO_0061042", "parentIds": ["GO_0032502"], "name": "vascular wound healing"} {"id": "GO_0061045", "parentIds": ["GO_0061041"], "name": "negative regulation of wound healing"} +{"id": "GO_0061337", "parentIds": ["GO_0008016"], "name": "cardiac conduction"} {"id": "GO_0061476", "parentIds": ["GO_0050896"], "name": "response to anticoagulant"} {"id": "GO_0061477", "parentIds": ["EFO_0007613"], "name": "response to aromatase inhibitor"} {"id": "GO_0061478", "parentIds": ["GO_0050896"], "name": "response to platelet aggregation inhibitor"} {"id": "GO_0061479", "parentIds": ["GO_0046677"], "name": "response to reverse transcriptase inhibitor"} -{"id": "GO_0061533", "parentIds": ["GO_0032940", "GO_0051649"], "name": "norepinephrine secretion, neurotransmission"} +{"id": "GO_0061533", "parentIds": ["GO_0051649", "GO_0050432"], "name": "norepinephrine secretion, neurotransmission"} +{"id": "GO_0061626", "parentIds": ["GO_0032502"], "name": "pharyngeal arch artery morphogenesis"} +{"id": "GO_0070075", "parentIds": ["GO_0032501", "GO_0006810"], "name": "tear secretion"} {"id": "GO_0070085", "parentIds": ["GO_0008152"], "name": "glycosylation"} {"id": "GO_0070092", "parentIds": ["GO_0046883"], "name": "regulation of glucagon secretion"} {"id": "GO_0070094", "parentIds": ["GO_0070092"], "name": "positive regulation of glucagon secretion"} +{"id": "GO_0070293", "parentIds": ["GO_0003014"], "name": "renal absorption"} {"id": "GO_0070527", "parentIds": ["GO_0009987"], "name": "platelet aggregation"} +{"id": "GO_0070561", "parentIds": ["GO_0007165"], "name": "vitamin D receptor signaling pathway"} +{"id": "GO_0070914", "parentIds": ["GO_0009314", "GO_0071214", "GO_0006281"], "name": "UV-damage excision repair"} {"id": "GO_0071214", "parentIds": ["GO_0009628", "GO_0051716"], "name": "cellular response to abiotic stimulus"} {"id": "GO_0071467", "parentIds": ["GO_0071214"], "name": "cellular response to pH"} +{"id": "GO_0071625", "parentIds": ["GO_0007610"], "name": "vocalization behavior"} +{"id": "GO_0071696", "parentIds": ["GO_0032502"], "name": "ectodermal placode development"} {"id": "GO_0071704", "parentIds": ["GO_0008152"], "name": "organic substance metabolic process"} +{"id": "GO_0071830", "parentIds": ["GO_0032501"], "name": "triglyceride-rich lipoprotein particle clearance"} +{"id": "GO_0072359", "parentIds": ["GO_0048731"], "name": "circulatory system development"} {"id": "GO_0072521", "parentIds": ["GO_1901360", "GO_0034641", "GO_0006725", "GO_0046483", "GO_1901564"], "name": "purine-containing compound metabolic process"} {"id": "GO_0072522", "parentIds": ["GO_0019438", "GO_1901362", "GO_1901566", "GO_0044271", "GO_0018130", "GO_0072521"], "name": "purine-containing compound biosynthetic process"} {"id": "GO_0072710", "parentIds": ["GO_0050896"], "name": "response to hydroxyurea"} -{"id": "GO_0072718", "parentIds": ["EFO_0004647"], "name": "response to cisplatin"} +{"id": "GO_0072718", "parentIds": ["OBA_2040037"], "name": "response to cisplatin"} {"id": "GO_0072758", "parentIds": ["GO_0050896"], "name": "response to topoisomerase inhibitor"} +{"id": "GO_0080145", "parentIds": ["GO_0042592"], "name": "intracellular cysteine homeostasis"} {"id": "GO_0090257", "parentIds": ["GO_0044057"], "name": "regulation of muscle system process"} {"id": "GO_0090330", "parentIds": ["GO_0030155", "GO_0010543"], "name": "regulation of platelet aggregation"} -{"id": "GO_0090331", "parentIds": ["GO_0061045", "GO_0090330"], "name": "negative regulation of platelet aggregation"} +{"id": "GO_0090331", "parentIds": ["GO_0030195", "GO_0090330"], "name": "negative regulation of platelet aggregation"} {"id": "GO_0090407", "parentIds": ["GO_1901576", "GO_0019637"], "name": "organophosphate biosynthetic process"} {"id": "GO_0097327", "parentIds": ["GO_0050896"], "name": "response to antineoplastic agent"} -{"id": "GO_0097328", "parentIds": ["EFO_0004647"], "name": "response to carboplatin"} +{"id": "GO_0097328", "parentIds": ["OBA_2040037"], "name": "response to carboplatin"} {"id": "GO_0097329", "parentIds": ["GO_0050896"], "name": "response to antimetabolite"} {"id": "GO_0097330", "parentIds": ["GO_0050896"], "name": "response to 5-fluoro-2'-deoxyuridine"} {"id": "GO_0097331", "parentIds": ["GO_0050896"], "name": "response to cytarabine"} @@ -299,6 +448,7 @@ {"id": "GO_0097366", "parentIds": ["GO_0050896"], "name": "response to bronchodilator"} {"id": "GO_0098900", "parentIds": ["GO_0050789"], "name": "regulation of action potential"} {"id": "GO_0098901", "parentIds": ["GO_0098900"], "name": "regulation of cardiac muscle cell action potential"} +{"id": "GO_0120054", "parentIds": ["GO_0003008"], "name": "intestinal motility"} {"id": "GO_0120060", "parentIds": ["GO_0044058"], "name": "regulation of gastric emptying"} {"id": "GO_0120061", "parentIds": ["GO_0120060"], "name": "negative regulation of gastric emptying"} {"id": "GO_0120062", "parentIds": ["GO_0120060"], "name": "positive regulation of gastric emptying"} @@ -331,32 +481,41 @@ {"id": "GO_1903491", "parentIds": ["GO_0036273"], "name": "response to simvastatin"} {"id": "GO_1903492", "parentIds": ["EFO_0005533"], "name": "response to acetylsalicylate"} {"id": "GO_1903493", "parentIds": ["GO_0050896"], "name": "response to clopidogrel"} +{"id": "GO_1903510", "parentIds": ["GO_0043170", "GO_1901135", "GO_1901564"], "name": "mucopolysaccharide metabolic process"} {"id": "GO_1904014", "parentIds": ["GO_0050896"], "name": "response to serotonin"} {"id": "GO_1904057", "parentIds": ["GO_0051930"], "name": "negative regulation of sensory perception of pain"} {"id": "GO_1904058", "parentIds": ["GO_0051930"], "name": "positive regulation of sensory perception of pain"} +{"id": "GO_1904659", "parentIds": ["GO_0008643", "GO_0009987"], "name": "glucose transmembrane transport"} {"id": "GO_1905119", "parentIds": ["GO_0050896"], "name": "response to haloperidol"} {"id": "GO_1905747", "parentIds": ["GO_0046877"], "name": "negative regulation of saliva secretion"} {"id": "GO_1990054", "parentIds": ["GO_0050896"], "name": "response to temozolomide"} {"id": "GO_1990110", "parentIds": ["GO_0032501"], "name": "callus formation"} +{"id": "GO_1990542", "parentIds": ["GO_0006810", "GO_0009987"], "name": "mitochondrial transmembrane transport"} {"id": "GO_2000292", "parentIds": ["GO_0044062", "GO_0044058"], "name": "regulation of defecation"} {"id": "GO_2000294", "parentIds": ["GO_2000292"], "name": "positive regulation of defecation"} {"id": "GO_2000428", "parentIds": ["GO_0030155"], "name": "regulation of neutrophil aggregation"} {"id": "HP_0000008", "parentIds": ["HP_0000078"], "name": "Abnormal morphology of female internal genitalia"} -{"id": "HP_0000011", "parentIds": ["HP_0000014", "EFO_1000018"], "name": "Neurogenic bladder"} +{"id": "HP_0000009", "parentIds": ["HP_0000014"], "name": "Functional abnormality of the bladder"} +{"id": "HP_0000011", "parentIds": ["HP_0000009", "EFO_1000018"], "name": "Neurogenic bladder"} {"id": "HP_0000014", "parentIds": ["HP_0000079"], "name": "Abnormality of the bladder"} {"id": "HP_0000015", "parentIds": ["HP_0000014"], "name": "Bladder diverticulum"} -{"id": "HP_0000016", "parentIds": ["HP_0000014"], "name": "Urinary retention"} -{"id": "HP_0000019", "parentIds": ["HP_0000014"], "name": "Urinary hesitancy"} -{"id": "HP_0000020", "parentIds": ["HP_0025142", "HP_0000014"], "name": "Urinary incontinence"} +{"id": "HP_0000016", "parentIds": ["HP_0000009"], "name": "Urinary retention"} +{"id": "HP_0000019", "parentIds": ["HP_0000009"], "name": "Urinary hesitancy"} +{"id": "HP_0000020", "parentIds": ["HP_0025142", "HP_0000009"], "name": "Urinary incontinence"} {"id": "HP_0000022", "parentIds": ["HP_0000078"], "name": "Abnormal male internal genitalia morphology"} {"id": "HP_0000023", "parentIds": ["HP_0004299"], "name": "Inguinal hernia"} -{"id": "HP_0000029", "parentIds": ["HP_0000078"], "name": "Testicular atrophy"} +{"id": "HP_0000027", "parentIds": ["HP_0000078"], "name": "Azoospermia"} +{"id": "HP_0000029", "parentIds": ["HP_0000035"], "name": "Testicular atrophy"} {"id": "HP_0000031", "parentIds": ["HP_0012649", "HP_0000022"], "name": "Epididymitis"} +{"id": "HP_0000035", "parentIds": ["HP_0000078"], "name": "Abnormal testis morphology"} +{"id": "HP_0000037", "parentIds": ["HP_0000078"], "name": "Male pseudohermaphroditism"} {"id": "HP_0000044", "parentIds": ["HP_0000078", "HP_0000818"], "name": "Hypogonadotropic hypogonadism"} {"id": "HP_0000046", "parentIds": ["HP_0000078"], "name": "Small scrotum"} +{"id": "HP_0000049", "parentIds": ["HP_0000078"], "name": "Shawl scrotum"} {"id": "HP_0000054", "parentIds": ["HP_0000078"], "name": "Micropenis"} -{"id": "HP_0000059", "parentIds": ["HP_0000078"], "name": "Hypoplastic labia majora"} +{"id": "HP_0000059", "parentIds": ["HP_0000066"], "name": "Hypoplastic labia majora"} {"id": "HP_0000062", "parentIds": ["HP_0000078"], "name": "Ambiguous genitalia"} +{"id": "HP_0000066", "parentIds": ["HP_0000078"], "name": "Labial hypoplasia"} {"id": "HP_0000069", "parentIds": ["HP_0000079"], "name": "Abnormality of the ureter"} {"id": "HP_0000072", "parentIds": ["HP_0000069"], "name": "Hydroureter"} {"id": "HP_0000077", "parentIds": ["HP_0000079"], "name": "Abnormality of the kidney"} @@ -364,12 +523,16 @@ {"id": "HP_0000079", "parentIds": ["HP_0000118"], "name": "Abnormality of the urinary system"} {"id": "HP_0000083", "parentIds": ["HP_0012211"], "name": "Renal insufficiency"} {"id": "HP_0000085", "parentIds": ["HP_0012210"], "name": "Horseshoe kidney"} +{"id": "HP_0000090", "parentIds": ["HP_0012210"], "name": "Nephronophthisis"} {"id": "HP_0000093", "parentIds": ["HP_0003110"], "name": "Proteinuria"} +{"id": "HP_0000096", "parentIds": ["HP_0011035"], "name": "Glomerular sclerosis"} {"id": "HP_0000098", "parentIds": ["HP_0001507"], "name": "Tall stature"} +{"id": "HP_0000099", "parentIds": ["HP_0012211", "HP_0012649", "HP_0011035"], "name": "Glomerulonephritis"} {"id": "HP_0000103", "parentIds": ["HP_0012590"], "name": "Polyuria"} {"id": "HP_0000107", "parentIds": ["HP_0012210"], "name": "Renal cyst"} {"id": "HP_0000111", "parentIds": ["HP_0011035"], "name": "Renal juxtaglomerular cell hypertrophy/hyperplasia"} {"id": "HP_0000112", "parentIds": ["HP_0012211"], "name": "Nephropathy"} +{"id": "HP_0000113", "parentIds": ["HP_0000107"], "name": "Polycystic kidney dysplasia"} {"id": "HP_0000118", "parentIds": ["EFO_0000651"], "name": "Phenotypic abnormality"} {"id": "HP_0000121", "parentIds": ["HP_0012210"], "name": "Nephrocalcinosis"} {"id": "HP_0000125", "parentIds": ["HP_0012210"], "name": "Pelvic kidney"} @@ -379,11 +542,11 @@ {"id": "HP_0000138", "parentIds": ["HP_0000008"], "name": "Ovarian cyst"} {"id": "HP_0000152", "parentIds": ["HP_0000118"], "name": "Abnormality of head or neck"} {"id": "HP_0000153", "parentIds": ["HP_0000271"], "name": "Abnormality of the mouth"} -{"id": "HP_0000154", "parentIds": ["HP_0000153"], "name": "Wide mouth"} +{"id": "HP_0000154", "parentIds": ["HP_0011337"], "name": "Wide mouth"} {"id": "HP_0000155", "parentIds": ["HP_0000153"], "name": "Oral ulcer"} {"id": "HP_0000157", "parentIds": ["HP_0000153"], "name": "Abnormality of the tongue"} -{"id": "HP_0000160", "parentIds": ["HP_0000153"], "name": "Narrow mouth"} -{"id": "HP_0000161", "parentIds": ["HP_0000204"], "name": "Median cleft lip"} +{"id": "HP_0000160", "parentIds": ["HP_0011337"], "name": "Narrow mouth"} +{"id": "HP_0000161", "parentIds": ["HP_0000204"], "name": "Median cleft upper lip"} {"id": "HP_0000164", "parentIds": ["HP_0000153"], "name": "Abnormality of the dentition"} {"id": "HP_0000171", "parentIds": ["HP_0000157"], "name": "Microglossia"} {"id": "HP_0000175", "parentIds": ["HP_0000202"], "name": "Cleft palate"} @@ -395,38 +558,44 @@ {"id": "HP_0000204", "parentIds": ["EFO_0003959"], "name": "Cleft upper lip"} {"id": "HP_0000218", "parentIds": ["HP_0000153"], "name": "High palate"} {"id": "HP_0000219", "parentIds": ["HP_0000233"], "name": "Thin upper lip vermilion"} -{"id": "HP_0000220", "parentIds": ["HP_0000153"], "name": "Velopharyngeal insufficiency"} +{"id": "HP_0000220", "parentIds": ["HP_0100736"], "name": "Velopharyngeal insufficiency"} {"id": "HP_0000223", "parentIds": ["HP_0012638", "HP_0000157"], "name": "Abnormality of taste sensation"} {"id": "HP_0000225", "parentIds": ["HP_0001892", "HP_0000153"], "name": "Gingival bleeding"} +{"id": "HP_0000230", "parentIds": ["HP_0000153"], "name": "Gingivitis"} {"id": "HP_0000233", "parentIds": ["HP_0000153"], "name": "Thin vermilion border"} {"id": "HP_0000234", "parentIds": ["HP_0000152"], "name": "Abnormality of the head"} {"id": "HP_0000236", "parentIds": ["HP_0000929"], "name": "Abnormality of the anterior fontanelle"} {"id": "HP_0000238", "parentIds": ["HP_0012443", "HP_0002921"], "name": "Hydrocephalus"} -{"id": "HP_0000248", "parentIds": ["HP_0000929"], "name": "Brachycephaly"} +{"id": "HP_0000243", "parentIds": ["HP_0002683"], "name": "Trigonocephaly"} +{"id": "HP_0000248", "parentIds": ["HP_0002683"], "name": "Brachycephaly"} {"id": "HP_0000252", "parentIds": ["HP_0000929", "HP_0012443"], "name": "Microcephaly"} {"id": "HP_0000256", "parentIds": ["HP_0000929"], "name": "Macrocephaly"} {"id": "HP_0000260", "parentIds": ["HP_0000236"], "name": "Wide anterior fontanel"} -{"id": "HP_0000263", "parentIds": ["HP_0000929"], "name": "Oxycephaly"} +{"id": "HP_0000263", "parentIds": ["HP_0002683"], "name": "Oxycephaly"} {"id": "HP_0000264", "parentIds": ["HP_0000929"], "name": "Abnormal mastoid morphology"} {"id": "HP_0000265", "parentIds": ["HP_0000264"], "name": "Mastoiditis"} -{"id": "HP_0000268", "parentIds": ["HP_0000929"], "name": "Dolichocephaly"} -{"id": "HP_0000269", "parentIds": ["HP_0000929"], "name": "Prominent occiput"} +{"id": "HP_0000268", "parentIds": ["HP_0002683"], "name": "Dolichocephaly"} +{"id": "HP_0000269", "parentIds": ["HP_0012294"], "name": "Prominent occiput"} {"id": "HP_0000271", "parentIds": ["HP_0000234"], "name": "Abnormality of the face"} {"id": "HP_0000272", "parentIds": ["HP_0010668"], "name": "Malar flattening"} +{"id": "HP_0000274", "parentIds": ["HP_0001999"], "name": "Small face"} +{"id": "HP_0000275", "parentIds": ["HP_0000274"], "name": "Narrow face"} {"id": "HP_0000276", "parentIds": ["HP_0001999"], "name": "Long face"} {"id": "HP_0000277", "parentIds": ["HP_0030791"], "name": "Abnormal mandible morphology"} {"id": "HP_0000278", "parentIds": ["HP_0000277"], "name": "Retrognathia"} {"id": "HP_0000280", "parentIds": ["HP_0001999"], "name": "Coarse facial features"} -{"id": "HP_0000282", "parentIds": ["HP_0000271", "HP_0001939"], "name": "Facial edema"} +{"id": "HP_0000282", "parentIds": ["HP_0000969", "HP_0000271"], "name": "Facial edema"} {"id": "HP_0000283", "parentIds": ["HP_0001999"], "name": "Broad face"} {"id": "HP_0000286", "parentIds": ["HP_0000271"], "name": "Epicanthus"} {"id": "HP_0000294", "parentIds": ["HP_0000271", "HP_0010720"], "name": "Low anterior hairline"} +{"id": "HP_0000297", "parentIds": ["HP_0000271", "HP_0001252", "HP_0011805"], "name": "Facial hypotonia"} {"id": "HP_0000303", "parentIds": ["HP_0000271", "HP_0000277"], "name": "Mandibular prognathia"} {"id": "HP_0000307", "parentIds": ["HP_0000271"], "name": "Pointed chin"} {"id": "HP_0000308", "parentIds": ["HP_0000347", "HP_0000278"], "name": "Microretrognathia"} {"id": "HP_0000311", "parentIds": ["HP_0001999"], "name": "Round face"} {"id": "HP_0000316", "parentIds": ["HP_0000478"], "name": "Hypertelorism"} {"id": "HP_0000319", "parentIds": ["HP_0000153"], "name": "Smooth philtrum"} +{"id": "HP_0000321", "parentIds": ["HP_0001999"], "name": "Square face"} {"id": "HP_0000322", "parentIds": ["HP_0000153"], "name": "Short philtrum"} {"id": "HP_0000325", "parentIds": ["HP_0001999"], "name": "Triangular face"} {"id": "HP_0000327", "parentIds": ["HP_0030791"], "name": "Hypoplasia of the maxilla"} @@ -443,9 +612,11 @@ {"id": "HP_0000360", "parentIds": ["HP_0000364"], "name": "Tinnitus"} {"id": "HP_0000363", "parentIds": ["HP_0000377"], "name": "Abnormal earlobe morphology"} {"id": "HP_0000364", "parentIds": ["HP_0000598"], "name": "Hearing abnormality"} +{"id": "HP_0000365", "parentIds": ["HP_0000364"], "name": "Hearing impairment"} {"id": "HP_0000366", "parentIds": ["HP_0000271"], "name": "Abnormality of the nose"} {"id": "HP_0000368", "parentIds": ["HP_0000369", "HP_0000358"], "name": "Low-set, posteriorly rotated ears"} {"id": "HP_0000369", "parentIds": ["HP_0000377"], "name": "Low-set ears"} +{"id": "HP_0000371", "parentIds": ["HP_0031703", "HP_0012649"], "name": "Acute otitis media"} {"id": "HP_0000376", "parentIds": ["HP_0000359"], "name": "Incomplete partition of the cochlea type II"} {"id": "HP_0000377", "parentIds": ["HP_0000356"], "name": "Abnormal pinna morphology"} {"id": "HP_0000384", "parentIds": ["HP_0010609", "HP_0000271"], "name": "Preauricular skin tag"} @@ -454,9 +625,10 @@ {"id": "HP_0000399", "parentIds": ["HP_0011474"], "name": "Prelingual sensorineural hearing impairment"} {"id": "HP_0000400", "parentIds": ["HP_0000377"], "name": "Macrotia"} {"id": "HP_0000402", "parentIds": ["HP_0000356"], "name": "Stenosis of the external auditory canal"} -{"id": "HP_0000405", "parentIds": ["HP_0000364", "HP_0031703"], "name": "Conductive hearing impairment"} -{"id": "HP_0000407", "parentIds": ["HP_0000364"], "name": "Sensorineural hearing impairment"} +{"id": "HP_0000405", "parentIds": ["HP_0000365", "HP_0031703"], "name": "Conductive hearing impairment"} +{"id": "HP_0000407", "parentIds": ["HP_0000365"], "name": "Sensorineural hearing impairment"} {"id": "HP_0000408", "parentIds": ["HP_0000407", "HP_0001730"], "name": "Progressive sensorineural hearing impairment"} +{"id": "HP_0000410", "parentIds": ["HP_0000405", "HP_0000407"], "name": "Mixed hearing impairment"} {"id": "HP_0000411", "parentIds": ["HP_0000377"], "name": "Protruding ear"} {"id": "HP_0000413", "parentIds": ["HP_0000356"], "name": "Atresia of the external auditory canal"} {"id": "HP_0000414", "parentIds": ["HP_0000366"], "name": "Bulbous nose"} @@ -469,36 +641,46 @@ {"id": "HP_0000447", "parentIds": ["HP_0000366"], "name": "Pear-shaped nose"} {"id": "HP_0000448", "parentIds": ["HP_0000366"], "name": "Prominent nose"} {"id": "HP_0000455", "parentIds": ["HP_0000366"], "name": "Broad nasal tip"} +{"id": "HP_0000458", "parentIds": ["HP_0004408"], "name": "Anosmia"} {"id": "HP_0000460", "parentIds": ["HP_0000366"], "name": "Narrow nose"} {"id": "HP_0000463", "parentIds": ["HP_0000366"], "name": "Anteverted nares"} {"id": "HP_0000464", "parentIds": ["HP_0000152"], "name": "Abnormality of the neck"} {"id": "HP_0000465", "parentIds": ["HP_0000464"], "name": "Webbed neck"} {"id": "HP_0000470", "parentIds": ["HP_0003319", "HP_0000464"], "name": "Short neck"} {"id": "HP_0000471", "parentIds": ["HP_0004296"], "name": "Gastrointestinal angiodysplasia"} +{"id": "HP_0000472", "parentIds": ["HP_0000464"], "name": "Long neck"} {"id": "HP_0000473", "parentIds": ["HP_0011805", "HP_0000464", "HP_0011442", "HP_0001332"], "name": "Torticollis"} {"id": "HP_0000474", "parentIds": ["HP_0001197", "HP_0000464"], "name": "Thickened nuchal skin fold"} {"id": "HP_0000478", "parentIds": ["HP_0000118"], "name": "Abnormality of the eye"} {"id": "HP_0000479", "parentIds": ["HP_0004329"], "name": "Abnormal retinal morphology"} -{"id": "HP_0000481", "parentIds": ["HP_0000478"], "name": "Abnormal cornea morphology"} +{"id": "HP_0000481", "parentIds": ["HP_0004328"], "name": "Abnormal cornea morphology"} {"id": "HP_0000483", "parentIds": ["HP_0000539", "HP_0000481"], "name": "Astigmatism"} {"id": "HP_0000485", "parentIds": ["HP_0000481"], "name": "Megalocornea"} {"id": "HP_0000486", "parentIds": ["HP_0000549"], "name": "Strabismus"} {"id": "HP_0000490", "parentIds": ["HP_0000478"], "name": "Deeply set eye"} +{"id": "HP_0000491", "parentIds": ["HP_0012649", "HP_0000481"], "name": "Keratitis"} {"id": "HP_0000494", "parentIds": ["HP_0000271"], "name": "Downslanted palpebral fissures"} +{"id": "HP_0000499", "parentIds": ["HP_0000271", "HP_0001574"], "name": "Abnormal eyelash morphology"} {"id": "HP_0000504", "parentIds": ["HP_0000478"], "name": "Abnormality of vision"} {"id": "HP_0000505", "parentIds": ["HP_0000504"], "name": "Visual impairment"} +{"id": "HP_0000509", "parentIds": ["HP_0000271", "HP_0000478", "HP_0002597", "HP_0012649"], "name": "Conjunctivitis"} {"id": "HP_0000512", "parentIds": ["HP_0000478"], "name": "Abnormal electroretinogram"} -{"id": "HP_0000517", "parentIds": ["HP_0000478"], "name": "Abnormal lens morphology"} -{"id": "HP_0000519", "parentIds": ["HP_0000517", "HP_0007700"], "name": "Developmental cataract"} +{"id": "HP_0000517", "parentIds": ["HP_0004328"], "name": "Abnormal lens morphology"} +{"id": "HP_0000518", "parentIds": ["HP_0000517"], "name": "Cataract"} +{"id": "HP_0000519", "parentIds": ["HP_0000518", "HP_0007700"], "name": "Developmental cataract"} {"id": "HP_0000520", "parentIds": ["HP_0000478"], "name": "Proptosis"} -{"id": "HP_0000527", "parentIds": ["HP_0000271", "HP_0001574"], "name": "Long eyelashes"} +{"id": "HP_0000526", "parentIds": ["HP_0007700"], "name": "Aniridia"} +{"id": "HP_0000527", "parentIds": ["HP_0000499"], "name": "Long eyelashes"} {"id": "HP_0000528", "parentIds": ["HP_0000478"], "name": "Anophthalmia"} {"id": "HP_0000529", "parentIds": ["HP_0000572"], "name": "Progressive visual loss"} +{"id": "HP_0000534", "parentIds": ["HP_0001574", "HP_0000271"], "name": "Abnormal eyebrow morphology"} {"id": "HP_0000539", "parentIds": ["HP_0000478"], "name": "Abnormality of refraction"} {"id": "HP_0000540", "parentIds": ["HP_0000539"], "name": "Hypermetropia"} {"id": "HP_0000544", "parentIds": ["HP_0000478"], "name": "External ophthalmoplegia"} {"id": "HP_0000545", "parentIds": ["HP_0000539"], "name": "Myopia"} {"id": "HP_0000549", "parentIds": ["HP_0000478"], "name": "Abnormal conjugate eye movement"} +{"id": "HP_0000554", "parentIds": ["HP_0000478", "HP_0012649"], "name": "Uveitis"} +{"id": "HP_0000556", "parentIds": ["HP_0000479"], "name": "Retinal dystrophy"} {"id": "HP_0000559", "parentIds": ["HP_0100699", "HP_0007957"], "name": "Corneal scarring"} {"id": "HP_0000565", "parentIds": ["HP_0000486"], "name": "Esotropia"} {"id": "HP_0000572", "parentIds": ["HP_0000505"], "name": "Visual loss"} @@ -509,18 +691,25 @@ {"id": "HP_0000582", "parentIds": ["HP_0000271"], "name": "Upslanted palpebral fissure"} {"id": "HP_0000598", "parentIds": ["HP_0000118"], "name": "Abnormality of the ear"} {"id": "HP_0000603", "parentIds": ["HP_0001123"], "name": "Central scotoma"} +{"id": "HP_0000608", "parentIds": ["HP_0001103"], "name": "Macular degeneration"} {"id": "HP_0000610", "parentIds": ["HP_0004329"], "name": "Abnormal choroid morphology"} +{"id": "HP_0000613", "parentIds": ["HP_0000504", "HP_0000708"], "name": "Photophobia"} {"id": "HP_0000614", "parentIds": ["HP_0000271"], "name": "Abnormal nasolacrimal system morphology"} {"id": "HP_0000616", "parentIds": ["HP_0007686"], "name": "Miosis"} {"id": "HP_0000618", "parentIds": ["HP_0007663"], "name": "Blindness"} {"id": "HP_0000622", "parentIds": ["HP_0000504"], "name": "Blurred vision"} {"id": "HP_0000629", "parentIds": ["HP_0000271"], "name": "Periorbital fullness"} {"id": "HP_0000632", "parentIds": ["HP_0000478"], "name": "Lacrimation abnormality"} +{"id": "HP_0000636", "parentIds": ["HP_0000271"], "name": "Upper eyelid coloboma"} {"id": "HP_0000639", "parentIds": ["HP_0000478"], "name": "Nystagmus"} -{"id": "HP_0000649", "parentIds": ["HP_0000478"], "name": "Abnormality of visual evoked potentials"} +{"id": "HP_0000646", "parentIds": ["HP_0007663"], "name": "Amblyopia"} +{"id": "HP_0000648", "parentIds": ["HP_0004329"], "name": "Optic atrophy"} +{"id": "HP_0000649", "parentIds": ["HP_0012638", "HP_0000478"], "name": "Abnormality of visual evoked potentials"} {"id": "HP_0000651", "parentIds": ["HP_0000504"], "name": "Diplopia"} -{"id": "HP_0000664", "parentIds": ["HP_0000271", "HP_0001574"], "name": "Synophrys"} +{"id": "HP_0000657", "parentIds": ["HP_0011442", "HP_0000478"], "name": "Oculomotor apraxia"} +{"id": "HP_0000664", "parentIds": ["HP_0000998", "HP_0000534"], "name": "Synophrys"} {"id": "HP_0000666", "parentIds": ["HP_0000639"], "name": "Horizontal nystagmus"} +{"id": "HP_0000668", "parentIds": ["HP_0009804"], "name": "Hypodontia"} {"id": "HP_0000678", "parentIds": ["HP_0000164"], "name": "Dental crowding"} {"id": "HP_0000680", "parentIds": ["HP_0000164"], "name": "Delayed eruption of primary teeth"} {"id": "HP_0000682", "parentIds": ["HP_0003549", "HP_0000164", "HP_0000924"], "name": "Abnormal dental enamel morphology"} @@ -531,29 +720,36 @@ {"id": "HP_0000708", "parentIds": ["HP_0011446"], "name": "Atypical behavior"} {"id": "HP_0000712", "parentIds": ["HP_0100851", "HP_0000708"], "name": "Emotional lability"} {"id": "HP_0000713", "parentIds": ["HP_0000708"], "name": "Agitation"} +{"id": "HP_0000717", "parentIds": ["HP_0000729"], "name": "Autism"} {"id": "HP_0000725", "parentIds": ["HP_0011446"], "name": "Psychotic episodes"} +{"id": "HP_0000726", "parentIds": ["HP_0001268"], "name": "Dementia"} +{"id": "HP_0000729", "parentIds": ["HP_0000708"], "name": "Autistic behavior"} {"id": "HP_0000732", "parentIds": ["HP_0000708"], "name": "Inflexible adherence to routines"} -{"id": "HP_0000733", "parentIds": ["HP_0000708"], "name": "Abnormal repetitive mannerisms"} -{"id": "HP_0000735", "parentIds": ["HP_0000708"], "name": "Impaired social interactions"} +{"id": "HP_0000733", "parentIds": ["HP_0000708"], "name": "Motor stereotypy"} {"id": "HP_0000736", "parentIds": ["HP_0100543"], "name": "Short attention span"} {"id": "HP_0000737", "parentIds": ["HP_0100851"], "name": "Irritability"} {"id": "HP_0000738", "parentIds": ["HP_0011446"], "name": "Hallucinations"} +{"id": "HP_0000739", "parentIds": ["HP_0011446"], "name": "Anxiety"} +{"id": "HP_0000741", "parentIds": ["HP_0000708"], "name": "Apathy"} {"id": "HP_0000746", "parentIds": ["HP_0011446"], "name": "Delusion"} {"id": "HP_0000750", "parentIds": ["HP_0002167", "HP_0012758"], "name": "Delayed speech and language development"} {"id": "HP_0000751", "parentIds": ["HP_0000708"], "name": "Personality changes"} -{"id": "HP_0000753", "parentIds": ["HP_0000708"], "name": "Autism with high cognitive abilities"} +{"id": "HP_0000752", "parentIds": ["HP_0000708"], "name": "Hyperactivity"} +{"id": "HP_0000753", "parentIds": ["HP_0000729"], "name": "Autism with high cognitive abilities"} {"id": "HP_0000758", "parentIds": ["HP_0011446"], "name": "Abnormal nonverbal communicative behavior"} {"id": "HP_0000762", "parentIds": ["HP_0012638"], "name": "Decreased nerve conduction velocity"} -{"id": "HP_0000763", "parentIds": ["HP_0012638"], "name": "Sensory neuropathy"} +{"id": "HP_0000763", "parentIds": ["HP_0009830"], "name": "Sensory neuropathy"} {"id": "HP_0000765", "parentIds": ["HP_0011842"], "name": "Abnormal thorax morphology"} {"id": "HP_0000766", "parentIds": ["HP_0000765"], "name": "Abnormal sternum morphology"} {"id": "HP_0000767", "parentIds": ["HP_0000766"], "name": "Pectus excavatum"} {"id": "HP_0000768", "parentIds": ["HP_0000766"], "name": "Pectus carinatum"} {"id": "HP_0000769", "parentIds": ["HP_0000118"], "name": "Abnormality of the breast"} {"id": "HP_0000771", "parentIds": ["HP_0000769"], "name": "Gynecomastia"} -{"id": "HP_0000774", "parentIds": ["HP_0000765"], "name": "Narrow chest"} +{"id": "HP_0000774", "parentIds": ["HP_0005257"], "name": "Narrow chest"} {"id": "HP_0000775", "parentIds": ["HP_0011805"], "name": "Abnormality of the diaphragm"} +{"id": "HP_0000777", "parentIds": ["HP_0100763", "HP_0000818"], "name": "Abnormal thymus morphology"} {"id": "HP_0000786", "parentIds": ["HP_0000078"], "name": "Primary amenorrhea"} +{"id": "HP_0000789", "parentIds": ["HP_0000078"], "name": "Infertility"} {"id": "HP_0000790", "parentIds": ["HP_0012211", "HP_0012614"], "name": "Hematuria"} {"id": "HP_0000800", "parentIds": ["HP_0000107"], "name": "Cystic renal dysplasia"} {"id": "HP_0000802", "parentIds": ["HP_0000078"], "name": "Impotence"} @@ -561,77 +757,108 @@ {"id": "HP_0000815", "parentIds": ["HP_0000818", "HP_0000078"], "name": "Hypergonadotropic hypogonadism"} {"id": "HP_0000817", "parentIds": ["HP_0000758"], "name": "Reduced eye contact"} {"id": "HP_0000818", "parentIds": ["HP_0000118"], "name": "Abnormality of the endocrine system"} +{"id": "HP_0000819", "parentIds": ["HP_0001952", "HP_0000818"], "name": "Diabetes mellitus"} {"id": "HP_0000820", "parentIds": ["HP_0000818"], "name": "Abnormality of the thyroid gland"} +{"id": "HP_0000822", "parentIds": ["HP_0032263"], "name": "Hypertension"} {"id": "HP_0000823", "parentIds": ["HP_0001510", "HP_0000818"], "name": "Delayed puberty"} -{"id": "HP_0000824", "parentIds": ["HP_0012443", "HP_0000818"], "name": "Decreased response to growth hormone stimulation test"} +{"id": "HP_0000824", "parentIds": ["HP_0000830"], "name": "Decreased response to growth hormone stimulation test"} +{"id": "HP_0000829", "parentIds": ["HP_0000818"], "name": "Hypoparathyroidism"} +{"id": "HP_0000830", "parentIds": ["HP_0012443", "HP_0000818"], "name": "Anterior hypopituitarism"} {"id": "HP_0000834", "parentIds": ["HP_0000818"], "name": "Abnormality of the adrenal glands"} {"id": "HP_0000842", "parentIds": ["HP_0003117", "HP_0011014"], "name": "Hyperinsulinemia"} -{"id": "HP_0000857", "parentIds": ["EFO_0000400", "HP_0001952", "HP_0000818"], "name": "Neonatal insulin-dependent diabetes mellitus"} +{"id": "HP_0000843", "parentIds": ["HP_0000818"], "name": "Hyperparathyroidism"} +{"id": "HP_0000853", "parentIds": ["HP_0000820"], "name": "Goiter"} +{"id": "HP_0000855", "parentIds": ["HP_0011014"], "name": "Insulin resistance"} +{"id": "HP_0000857", "parentIds": ["EFO_0000400", "HP_0000855", "HP_0000819"], "name": "Neonatal insulin-dependent diabetes mellitus"} {"id": "HP_0000863", "parentIds": ["HP_0000818"], "name": "Central diabetes insipidus"} +{"id": "HP_0000870", "parentIds": ["HP_0010514"], "name": "Increased circulating prolactin concentration"} {"id": "HP_0000876", "parentIds": ["HP_0000078"], "name": "Oligomenorrhea"} +{"id": "HP_0000882", "parentIds": ["HP_0000765"], "name": "Hypoplastic scapulae"} {"id": "HP_0000892", "parentIds": ["HP_0000765"], "name": "Bifid ribs"} {"id": "HP_0000902", "parentIds": ["HP_0000765"], "name": "Rib fusion"} +{"id": "HP_0000919", "parentIds": ["HP_0000765"], "name": "Abnormality of the costochondral junction"} {"id": "HP_0000921", "parentIds": ["HP_0000765"], "name": "Missing ribs"} {"id": "HP_0000924", "parentIds": ["HP_0000118"], "name": "Abnormality of the skeletal system"} {"id": "HP_0000925", "parentIds": ["HP_0011842"], "name": "Abnormality of the vertebral column"} +{"id": "HP_0000926", "parentIds": ["HP_0003312"], "name": "Platyspondyly"} {"id": "HP_0000929", "parentIds": ["HP_0011842", "HP_0000234"], "name": "Abnormal skull morphology"} {"id": "HP_0000932", "parentIds": ["HP_0000929"], "name": "Abnormal posterior cranial fossa morphology"} {"id": "HP_0000934", "parentIds": ["HP_0011842", "HP_0003549"], "name": "Chondrocalcinosis"} {"id": "HP_0000938", "parentIds": ["HP_0004349"], "name": "Osteopenia"} +{"id": "HP_0000939", "parentIds": ["HP_0004349"], "name": "Osteoporosis"} {"id": "HP_0000951", "parentIds": ["HP_0001574"], "name": "Abnormality of the skin"} -{"id": "HP_0000952", "parentIds": ["HP_0001392", "HP_0011121"], "name": "Jaundice"} +{"id": "HP_0000952", "parentIds": ["HP_0001396", "HP_0011121"], "name": "Jaundice"} +{"id": "HP_0000953", "parentIds": ["HP_0011121"], "name": "Hyperpigmentation of the skin"} {"id": "HP_0000954", "parentIds": ["HP_0011121", "HP_0002817"], "name": "Single transverse palmar crease"} -{"id": "HP_0000957", "parentIds": ["HP_0011121"], "name": "Cafe-au-lait spot"} +{"id": "HP_0000957", "parentIds": ["HP_0000953"], "name": "Cafe-au-lait spot"} {"id": "HP_0000958", "parentIds": ["HP_0011121"], "name": "Dry skin"} {"id": "HP_0000960", "parentIds": ["HP_0000925", "HP_0011121"], "name": "Sacral dimple"} -{"id": "HP_0000964", "parentIds": ["HP_0011123"], "name": "Eczema"} +{"id": "HP_0000962", "parentIds": ["HP_0011368"], "name": "Hyperkeratosis"} +{"id": "HP_0000964", "parentIds": ["HP_0011123"], "name": "Eczematoid dermatitis"} +{"id": "HP_0000966", "parentIds": ["HP_0001574"], "name": "Hypohidrosis"} +{"id": "HP_0000969", "parentIds": ["HP_0001939"], "name": "Edema"} +{"id": "HP_0000970", "parentIds": ["HP_0001574"], "name": "Anhidrosis"} +{"id": "HP_0000972", "parentIds": ["HP_0002817", "HP_0001760", "HP_0000962"], "name": "Palmoplantar hyperkeratosis"} {"id": "HP_0000974", "parentIds": ["HP_0008067"], "name": "Hyperextensible skin"} {"id": "HP_0000975", "parentIds": ["HP_0001574"], "name": "Hyperhidrosis"} {"id": "HP_0000978", "parentIds": ["HP_0001933"], "name": "Bruising susceptibility"} {"id": "HP_0000979", "parentIds": ["HP_0001933"], "name": "Purpura"} {"id": "HP_0000980", "parentIds": ["HP_0011121"], "name": "Pallor"} -{"id": "HP_0000989", "parentIds": ["HP_0000951"], "name": "Pruritus"} -{"id": "HP_0000997", "parentIds": ["EFO_0003963", "HP_0011121"], "name": "Axillary freckling"} +{"id": "HP_0000982", "parentIds": ["HP_0000972"], "name": "Palmoplantar keratoderma"} +{"id": "HP_0000988", "parentIds": ["HP_0011123"], "name": "Skin rash"} +{"id": "HP_0000989", "parentIds": ["HP_0011122"], "name": "Pruritus"} +{"id": "HP_0000992", "parentIds": ["HP_0011121"], "name": "Cutaneous photosensitivity"} +{"id": "HP_0000997", "parentIds": ["EFO_0003963", "HP_0001480"], "name": "Axillary freckling"} +{"id": "HP_0000998", "parentIds": ["HP_0001574"], "name": "Hypertrichosis"} {"id": "HP_0000999", "parentIds": ["HP_0011123", "HP_0002719"], "name": "Pyoderma"} +{"id": "HP_0001004", "parentIds": ["HP_0000969"], "name": "Lymphedema"} {"id": "HP_0001007", "parentIds": ["HP_0001574"], "name": "Hirsutism"} {"id": "HP_0001010", "parentIds": ["HP_0011121"], "name": "Hypopigmentation of the skin"} +{"id": "HP_0001022", "parentIds": ["HP_0001010"], "name": "Albinism"} {"id": "HP_0001026", "parentIds": ["HP_0200042"], "name": "Penetrating foot ulcers"} {"id": "HP_0001030", "parentIds": ["HP_0011121"], "name": "Fragile skin"} +{"id": "HP_0001051", "parentIds": ["HP_0000964"], "name": "Seborrheic dermatitis"} {"id": "HP_0001065", "parentIds": ["HP_0011121"], "name": "Striae distensae"} {"id": "HP_0001071", "parentIds": ["HP_0011276"], "name": "Angiokeratoma corporis diffusum"} {"id": "HP_0001072", "parentIds": ["HP_0011121"], "name": "Thickened skin"} {"id": "HP_0001075", "parentIds": ["HP_0100699", "HP_0011121"], "name": "Atrophic scars"} {"id": "HP_0001082", "parentIds": ["HP_0012438"], "name": "Cholecystitis"} -{"id": "HP_0001094", "parentIds": ["HP_0012649", "HP_0000478"], "name": "Iridocyclitis"} -{"id": "HP_0001100", "parentIds": ["HP_0000478"], "name": "Heterochromia iridis"} +{"id": "HP_0001094", "parentIds": ["HP_0000554"], "name": "Iridocyclitis"} +{"id": "HP_0001097", "parentIds": ["HP_0000509", "HP_0000491"], "name": "Keratoconjunctivitis sicca"} +{"id": "HP_0001100", "parentIds": ["HP_0004328"], "name": "Heterochromia iridis"} {"id": "HP_0001103", "parentIds": ["HP_0000479"], "name": "Abnormal macular morphology"} {"id": "HP_0001105", "parentIds": ["HP_0000479"], "name": "Retinal atrophy"} {"id": "HP_0001106", "parentIds": ["HP_0011121", "HP_0000271"], "name": "Periorbital hyperpigmentation"} +{"id": "HP_0001114", "parentIds": ["HP_0000271", "HP_0011121"], "name": "Xanthelasma"} {"id": "HP_0001123", "parentIds": ["HP_0000505"], "name": "Visual field defect"} -{"id": "HP_0001128", "parentIds": ["HP_0001574", "HP_0000271"], "name": "Trichiasis"} +{"id": "HP_0001128", "parentIds": ["HP_0000499"], "name": "Trichiasis"} {"id": "HP_0001132", "parentIds": ["HP_0000517"], "name": "Lens subluxation"} -{"id": "HP_0001162", "parentIds": ["HP_0001167"], "name": "Postaxial hand polydactyly"} +{"id": "HP_0001140", "parentIds": ["HP_0000481", "HP_0000271"], "name": "Limbal dermoid"} +{"id": "HP_0001156", "parentIds": ["HP_0011297"], "name": "Brachydactyly"} +{"id": "HP_0001159", "parentIds": ["HP_0011297"], "name": "Syndactyly"} +{"id": "HP_0001162", "parentIds": ["HP_0001167", "HP_0010442"], "name": "Postaxial hand polydactyly"} {"id": "HP_0001167", "parentIds": ["HP_0011297", "HP_0002817"], "name": "Abnormal finger morphology"} {"id": "HP_0001172", "parentIds": ["HP_0001167"], "name": "Abnormal thumb morphology"} {"id": "HP_0001176", "parentIds": ["HP_0002817"], "name": "Large hands"} {"id": "HP_0001182", "parentIds": ["HP_0100807"], "name": "Tapered finger"} -{"id": "HP_0001195", "parentIds": ["HP_0030680", "HP_0010881"], "name": "Single umbilical artery"} +{"id": "HP_0001195", "parentIds": ["HP_0010881", "HP_0010948"], "name": "Single umbilical artery"} {"id": "HP_0001197", "parentIds": ["HP_0000118"], "name": "Abnormality of prenatal development or birth"} {"id": "HP_0001233", "parentIds": ["HP_0006101"], "name": "2-3 finger syndactyly"} {"id": "HP_0001249", "parentIds": ["HP_0012759", "HP_0100543"], "name": "Intellectual disability"} {"id": "HP_0001250", "parentIds": ["HP_0012638"], "name": "Seizure"} {"id": "HP_0001251", "parentIds": ["HP_0011442"], "name": "Ataxia"} {"id": "HP_0001252", "parentIds": ["HP_0003808"], "name": "Hypotonia"} +{"id": "HP_0001254", "parentIds": ["HP_0000708"], "name": "Lethargy"} {"id": "HP_0001256", "parentIds": ["HP_0001249"], "name": "Intellectual disability, mild"} {"id": "HP_0001257", "parentIds": ["HP_0011442", "HP_0001276"], "name": "Spasticity"} -{"id": "HP_0001258", "parentIds": ["HP_0002061"], "name": "Spastic paraplegia"} +{"id": "HP_0001258", "parentIds": ["HP_0010550", "HP_0002061"], "name": "Spastic paraplegia"} {"id": "HP_0001259", "parentIds": ["HP_0004372"], "name": "Coma"} {"id": "HP_0001260", "parentIds": ["HP_0002167"], "name": "Dysarthria"} {"id": "HP_0001263", "parentIds": ["HP_0012758"], "name": "Global developmental delay"} {"id": "HP_0001265", "parentIds": ["HP_0001315"], "name": "Hyporeflexia"} -{"id": "HP_0001266", "parentIds": ["HP_0011442", "HP_0100022"], "name": "Choreoathetosis"} +{"id": "HP_0001266", "parentIds": ["HP_0002305", "HP_0002072"], "name": "Choreoathetosis"} {"id": "HP_0001268", "parentIds": ["HP_0100543"], "name": "Mental deterioration"} -{"id": "HP_0001269", "parentIds": ["HP_0012443", "HP_0011442"], "name": "Hemiparesis"} +{"id": "HP_0001269", "parentIds": ["HP_0012443", "HP_0004374"], "name": "Hemiparesis"} {"id": "HP_0001270", "parentIds": ["HP_0012758"], "name": "Motor delay"} {"id": "HP_0001272", "parentIds": ["HP_0012443"], "name": "Cerebellar atrophy"} {"id": "HP_0001273", "parentIds": ["HP_0002500"], "name": "Abnormal corpus callosum morphology"} @@ -639,51 +866,65 @@ {"id": "HP_0001276", "parentIds": ["HP_0003808"], "name": "Hypertonia"} {"id": "HP_0001279", "parentIds": ["HP_0011025"], "name": "Syncope"} {"id": "HP_0001281", "parentIds": ["HP_0011804"], "name": "Tetany"} +{"id": "HP_0001287", "parentIds": ["HP_0002715", "HP_0002011"], "name": "Meningitis"} {"id": "HP_0001288", "parentIds": ["HP_0100022"], "name": "Gait disturbance"} +{"id": "HP_0001289", "parentIds": ["HP_0100543"], "name": "Confusion"} {"id": "HP_0001290", "parentIds": ["HP_0001252"], "name": "Generalized hypotonia"} +{"id": "HP_0001297", "parentIds": ["HP_0100659"], "name": "Stroke"} {"id": "HP_0001298", "parentIds": ["HP_0012638"], "name": "Encephalopathy"} {"id": "HP_0001300", "parentIds": ["HP_0011442"], "name": "Parkinsonism"} -{"id": "HP_0001302", "parentIds": ["HP_0002536"], "name": "Pachygyria"} +{"id": "HP_0001302", "parentIds": ["HP_0001339"], "name": "Pachygyria"} {"id": "HP_0001304", "parentIds": ["HP_0001332"], "name": "Torsion dystonia"} {"id": "HP_0001310", "parentIds": ["HP_0012443", "HP_0001251"], "name": "Dysmetria"} {"id": "HP_0001315", "parentIds": ["HP_0031826"], "name": "Reduced tendon reflexes"} {"id": "HP_0001319", "parentIds": ["HP_0001252"], "name": "Neonatal hypotonia"} -{"id": "HP_0001320", "parentIds": ["HP_0001321"], "name": "Cerebellar vermis hypoplasia"} +{"id": "HP_0001320", "parentIds": ["HP_0002334", "HP_0001321"], "name": "Cerebellar vermis hypoplasia"} {"id": "HP_0001321", "parentIds": ["HP_0007360"], "name": "Cerebellar hypoplasia"} {"id": "HP_0001324", "parentIds": ["HP_0011804"], "name": "Muscle weakness"} {"id": "HP_0001325", "parentIds": ["HP_0001259"], "name": "Hypoglycemic coma"} {"id": "HP_0001328", "parentIds": ["HP_0012759"], "name": "Specific learning disability"} +{"id": "HP_0001331", "parentIds": ["HP_0012443"], "name": "Absent septum pellucidum"} {"id": "HP_0001332", "parentIds": ["HP_0100022", "HP_0000708"], "name": "Dystonia"} {"id": "HP_0001336", "parentIds": ["HP_0100022", "HP_0011442"], "name": "Myoclonus"} {"id": "HP_0001337", "parentIds": ["HP_0100022", "HP_0011442"], "name": "Tremor"} {"id": "HP_0001338", "parentIds": ["HP_0001274"], "name": "Partial agenesis of the corpus callosum"} +{"id": "HP_0001339", "parentIds": ["HP_0002536"], "name": "Lissencephaly"} +{"id": "HP_0001340", "parentIds": ["HP_0012638"], "name": "Enhancement of the C-reflex"} +{"id": "HP_0001341", "parentIds": ["HP_0012443"], "name": "Olfactory lobe agenesis"} {"id": "HP_0001344", "parentIds": ["HP_0000750"], "name": "Absent speech"} {"id": "HP_0001347", "parentIds": ["HP_0031826"], "name": "Hyperreflexia"} {"id": "HP_0001348", "parentIds": ["HP_0001347"], "name": "Brisk reflexes"} {"id": "HP_0001350", "parentIds": ["HP_0011442"], "name": "Slurred speech"} -{"id": "HP_0001357", "parentIds": ["HP_0000929"], "name": "Plagiocephaly"} +{"id": "HP_0001357", "parentIds": ["HP_0002683"], "name": "Plagiocephaly"} +{"id": "HP_0001369", "parentIds": ["HP_0011842"], "name": "Arthritis"} +{"id": "HP_0001370", "parentIds": ["HP_0001369"], "name": "Rheumatoid arthritis"} {"id": "HP_0001371", "parentIds": ["HP_0011805", "HP_0003549", "HP_0011842"], "name": "Flexion contracture"} {"id": "HP_0001373", "parentIds": ["HP_0011842"], "name": "Joint dislocation"} {"id": "HP_0001382", "parentIds": ["HP_0000924"], "name": "Joint hypermobility"} +{"id": "HP_0001384", "parentIds": ["HP_0011842", "HP_0002814"], "name": "Abnormal hip joint morphology"} {"id": "HP_0001385", "parentIds": ["HP_0011842"], "name": "Hip dysplasia"} -{"id": "HP_0001386", "parentIds": ["HP_0011842", "HP_0001939"], "name": "Joint swelling"} +{"id": "HP_0001386", "parentIds": ["HP_0011842", "HP_0000969"], "name": "Joint swelling"} {"id": "HP_0001387", "parentIds": ["HP_0000924"], "name": "Joint stiffness"} -{"id": "HP_0001388", "parentIds": ["HP_0000924"], "name": "Joint laxity"} {"id": "HP_0001392", "parentIds": ["HP_0002012"], "name": "Abnormality of the liver"} +{"id": "HP_0001394", "parentIds": ["HP_0001392"], "name": "Cirrhosis"} {"id": "HP_0001395", "parentIds": ["HP_0001392"], "name": "Hepatic fibrosis"} +{"id": "HP_0001396", "parentIds": ["HP_0001392"], "name": "Cholestasis"} {"id": "HP_0001397", "parentIds": ["HP_0001392", "HP_0001939"], "name": "Hepatic steatosis"} {"id": "HP_0001399", "parentIds": ["HP_0001410"], "name": "Hepatic failure"} {"id": "HP_0001405", "parentIds": ["HP_0001395"], "name": "Periportal fibrosis"} {"id": "HP_0001407", "parentIds": ["HP_0001392"], "name": "Hepatic cysts"} {"id": "HP_0001410", "parentIds": ["HP_0025031"], "name": "Decreased liver function"} +{"id": "HP_0001433", "parentIds": ["HP_0002240", "HP_0001744"], "name": "Hepatosplenomegaly"} {"id": "HP_0001438", "parentIds": ["HP_0025031"], "name": "Abnormal abdomen morphology"} {"id": "HP_0001476", "parentIds": ["HP_0000236"], "name": "Delayed closure of the anterior fontanelle"} +{"id": "HP_0001480", "parentIds": ["HP_0011121"], "name": "Freckling"} {"id": "HP_0001482", "parentIds": ["HP_0011121"], "name": "Subcutaneous nodule"} {"id": "HP_0001488", "parentIds": ["HP_0000478"], "name": "Bilateral ptosis"} -{"id": "HP_0001495", "parentIds": ["HP_0040070", "HP_0009810"], "name": "Carpal osteolysis"} +{"id": "HP_0001495", "parentIds": ["HP_0009810", "HP_0002797", "HP_0040070"], "name": "Carpal osteolysis"} {"id": "HP_0001507", "parentIds": ["HP_0000118"], "name": "Growth abnormality"} {"id": "HP_0001508", "parentIds": ["HP_0004325"], "name": "Failure to thrive"} {"id": "HP_0001510", "parentIds": ["HP_0001507"], "name": "Growth delay"} +{"id": "HP_0001513", "parentIds": ["HP_0004324"], "name": "Obesity"} {"id": "HP_0001518", "parentIds": ["HP_0004325"], "name": "Small for gestational age"} {"id": "HP_0001520", "parentIds": ["HP_0004324"], "name": "Large for gestational age"} {"id": "HP_0001522", "parentIds": ["EFO_0004352"], "name": "Death in infancy"} @@ -691,6 +932,7 @@ {"id": "HP_0001537", "parentIds": ["HP_0004299"], "name": "Umbilical hernia"} {"id": "HP_0001541", "parentIds": ["HP_0001438"], "name": "Ascites"} {"id": "HP_0001548", "parentIds": ["HP_0000098"], "name": "Overgrowth"} +{"id": "HP_0001549", "parentIds": ["HP_0002242"], "name": "Abnormal ileum morphology"} {"id": "HP_0001555", "parentIds": ["HP_0000765"], "name": "Asymmetry of the thorax"} {"id": "HP_0001558", "parentIds": ["HP_0001197"], "name": "Decreased fetal movement"} {"id": "HP_0001560", "parentIds": ["HP_0001197"], "name": "Abnormality of the amniotic fluid"} @@ -698,36 +940,51 @@ {"id": "HP_0001574", "parentIds": ["HP_0000118"], "name": "Abnormality of the integument"} {"id": "HP_0001583", "parentIds": ["HP_0000639"], "name": "Rotary nystagmus"} {"id": "HP_0001591", "parentIds": ["HP_0000765"], "name": "Bell-shaped thorax"} +{"id": "HP_0001596", "parentIds": ["HP_0001574"], "name": "Alopecia"} {"id": "HP_0001597", "parentIds": ["HP_0001574"], "name": "Abnormality of the nail"} {"id": "HP_0001600", "parentIds": ["HP_0002086"], "name": "Abnormality of the larynx"} {"id": "HP_0001601", "parentIds": ["HP_0025423"], "name": "Laryngomalacia"} {"id": "HP_0001605", "parentIds": ["HP_0003470", "HP_0031801"], "name": "Vocal cord paralysis"} +{"id": "HP_0001607", "parentIds": ["HP_0025423"], "name": "Subglottic stenosis"} +{"id": "HP_0001609", "parentIds": ["HP_0000118"], "name": "Hoarse voice"} {"id": "HP_0001611", "parentIds": ["HP_0000118"], "name": "Hypernasal speech"} {"id": "HP_0001620", "parentIds": ["HP_0002167"], "name": "High pitched voice"} {"id": "HP_0001623", "parentIds": ["HP_0001787"], "name": "Breech presentation"} {"id": "HP_0001626", "parentIds": ["HP_0000118"], "name": "Abnormality of the cardiovascular system"} {"id": "HP_0001627", "parentIds": ["HP_0030680"], "name": "Abnormal heart morphology"} -{"id": "HP_0001634", "parentIds": ["EFO_0009557", "HP_0001627"], "name": "Mitral valve prolapse"} +{"id": "HP_0001633", "parentIds": ["HP_0001627"], "name": "Abnormal mitral valve morphology"} +{"id": "HP_0001634", "parentIds": ["EFO_0009557", "HP_0001633"], "name": "Mitral valve prolapse"} +{"id": "HP_0001635", "parentIds": ["HP_0011025"], "name": "Congestive heart failure"} {"id": "HP_0001636", "parentIds": ["HP_0001710"], "name": "Tetralogy of Fallot"} {"id": "HP_0001642", "parentIds": ["HP_0030680", "HP_0011025"], "name": "Pulmonic stenosis"} {"id": "HP_0001643", "parentIds": ["HP_0030680", "HP_0002597"], "name": "Patent ductus arteriosus"} +{"id": "HP_0001644", "parentIds": ["HP_0001627"], "name": "Dilated cardiomyopathy"} {"id": "HP_0001647", "parentIds": ["HP_0001627"], "name": "Bicuspid aortic valve"} {"id": "HP_0001649", "parentIds": ["HP_0004308"], "name": "Tachycardia"} +{"id": "HP_0001650", "parentIds": ["HP_0031652"], "name": "Aortic valve stenosis"} {"id": "HP_0001651", "parentIds": ["HP_0001627"], "name": "Dextrocardia"} {"id": "HP_0001653", "parentIds": ["HP_0031481"], "name": "Mitral regurgitation"} -{"id": "HP_0001655", "parentIds": ["HP_0001671"], "name": "Patent foramen ovale"} +{"id": "HP_0001655", "parentIds": ["HP_0001671", "HP_0005120"], "name": "Patent foramen ovale"} {"id": "HP_0001657", "parentIds": ["HP_0003115"], "name": "Prolonged QT interval"} {"id": "HP_0001660", "parentIds": ["HP_0002597", "HP_0030680"], "name": "Truncus arteriosus"} -{"id": "HP_0001662", "parentIds": ["HP_0030956"], "name": "Bradycardia"} +{"id": "HP_0001662", "parentIds": ["HP_0011675"], "name": "Bradycardia"} +{"id": "HP_0001663", "parentIds": ["HP_0004308"], "name": "Ventricular fibrillation"} {"id": "HP_0001667", "parentIds": ["HP_0001627"], "name": "Right ventricular hypertrophy"} {"id": "HP_0001671", "parentIds": ["HP_0001627"], "name": "Abnormal cardiac septum morphology"} {"id": "HP_0001679", "parentIds": ["HP_0002597", "HP_0030680"], "name": "Abnormal aortic morphology"} -{"id": "HP_0001684", "parentIds": ["HP_0001671"], "name": "Secundum atrial septal defect"} +{"id": "HP_0001684", "parentIds": ["HP_0005120", "HP_0001671"], "name": "Secundum atrial septal defect"} {"id": "HP_0001685", "parentIds": ["HP_0001627"], "name": "Myocardial fibrosis"} +{"id": "HP_0001686", "parentIds": ["HP_0000118"], "name": "Loss of voice"} {"id": "HP_0001693", "parentIds": ["HP_0011028"], "name": "Cardiac shunt"} +{"id": "HP_0001698", "parentIds": ["HP_0001627"], "name": "Pericardial effusion"} {"id": "HP_0001699", "parentIds": ["HP_0025142"], "name": "Sudden death"} +{"id": "HP_0001700", "parentIds": ["HP_0001627"], "name": "Myocardial necrosis"} +{"id": "HP_0001702", "parentIds": ["HP_0001627"], "name": "Abnormal tricuspid valve morphology"} {"id": "HP_0001710", "parentIds": ["HP_0002597", "HP_0001627"], "name": "Conotruncal defect"} -{"id": "HP_0001730", "parentIds": ["HP_0000364"], "name": "Progressive hearing impairment"} +{"id": "HP_0001718", "parentIds": ["HP_0031481"], "name": "Mitral stenosis"} +{"id": "HP_0001730", "parentIds": ["HP_0000365"], "name": "Progressive hearing impairment"} +{"id": "HP_0001733", "parentIds": ["HP_0012649", "HP_0002012"], "name": "Pancreatitis"} +{"id": "HP_0001735", "parentIds": ["HP_0001733"], "name": "Acute pancreatitis"} {"id": "HP_0001737", "parentIds": ["HP_0002012"], "name": "Pancreatic cysts"} {"id": "HP_0001742", "parentIds": ["HP_0000366"], "name": "Nasal congestion"} {"id": "HP_0001744", "parentIds": ["HP_0002012", "HP_0001438", "HP_0100763"], "name": "Splenomegaly"} @@ -735,23 +992,27 @@ {"id": "HP_0001761", "parentIds": ["HP_0000924", "HP_0001760"], "name": "Pes cavus"} {"id": "HP_0001762", "parentIds": ["HP_0001883"], "name": "Talipes equinovarus"} {"id": "HP_0001769", "parentIds": ["HP_0001760"], "name": "Broad foot"} -{"id": "HP_0001770", "parentIds": ["HP_0001780"], "name": "Toe syndactyly"} +{"id": "HP_0001770", "parentIds": ["HP_0001780", "HP_0001159"], "name": "Toe syndactyly"} {"id": "HP_0001771", "parentIds": ["HP_0005750", "HP_0001760"], "name": "Achilles tendon contracture"} {"id": "HP_0001773", "parentIds": ["HP_0001760", "HP_0011842"], "name": "Short foot"} {"id": "HP_0001776", "parentIds": ["HP_0001762"], "name": "Bilateral talipes equinovarus"} {"id": "HP_0001780", "parentIds": ["HP_0001760", "HP_0011297"], "name": "Abnormal toe morphology"} {"id": "HP_0001787", "parentIds": ["HP_0001197"], "name": "Abnormal delivery"} {"id": "HP_0001788", "parentIds": ["HP_0001787"], "name": "Premature rupture of membranes"} +{"id": "HP_0001789", "parentIds": ["HP_0001197", "HP_0000969"], "name": "Hydrops fetalis"} {"id": "HP_0001798", "parentIds": ["HP_0008386"], "name": "Anonychia"} {"id": "HP_0001800", "parentIds": ["HP_0008388", "HP_0008386"], "name": "Hypoplastic toenails"} {"id": "HP_0001822", "parentIds": ["HP_0001780"], "name": "Hallux valgus"} {"id": "HP_0001824", "parentIds": ["HP_0004325"], "name": "Weight loss"} -{"id": "HP_0001830", "parentIds": ["HP_0001780"], "name": "Postaxial foot polydactyly"} +{"id": "HP_0001830", "parentIds": ["HP_0010442", "HP_0001780"], "name": "Postaxial foot polydactyly"} {"id": "HP_0001831", "parentIds": ["HP_0001780"], "name": "Short toe"} +{"id": "HP_0001833", "parentIds": ["HP_0001760"], "name": "Long foot"} +{"id": "HP_0001837", "parentIds": ["HP_0001780"], "name": "Broad toe"} {"id": "HP_0001838", "parentIds": ["HP_0008365"], "name": "Rocker bottom foot"} {"id": "HP_0001840", "parentIds": ["HP_0001760", "HP_0011842"], "name": "Metatarsus adductus"} {"id": "HP_0001845", "parentIds": ["HP_0001780"], "name": "Overlapping toe"} {"id": "HP_0001848", "parentIds": ["HP_0011842", "HP_0001760"], "name": "Calcaneovalgus deformity"} +{"id": "HP_0001852", "parentIds": ["HP_0001780"], "name": "Sandal gap"} {"id": "HP_0001863", "parentIds": ["HP_0001780", "HP_0030084"], "name": "Toe clinodactyly"} {"id": "HP_0001864", "parentIds": ["HP_0001863"], "name": "Clinodactyly of the 5th toe"} {"id": "HP_0001869", "parentIds": ["HP_0011121", "HP_0001760"], "name": "Deep plantar creases"} @@ -761,37 +1022,50 @@ {"id": "HP_0001877", "parentIds": ["HP_0001871"], "name": "Abnormal erythrocyte morphology"} {"id": "HP_0001880", "parentIds": ["HP_0001974"], "name": "Eosinophilia"} {"id": "HP_0001881", "parentIds": ["HP_0002715", "HP_0001871"], "name": "Abnormal leukocyte morphology"} -{"id": "HP_0001883", "parentIds": ["HP_0001760"], "name": "Talipes"} -{"id": "HP_0001891", "parentIds": ["HP_0010972"], "name": "Iron deficiency anemia"} +{"id": "HP_0001882", "parentIds": ["HP_0001881"], "name": "Leukopenia"} +{"id": "HP_0001883", "parentIds": ["HP_0005656"], "name": "Talipes"} +{"id": "HP_0001888", "parentIds": ["HP_0001881"], "name": "Lymphopenia"} +{"id": "HP_0001889", "parentIds": ["HP_0010972"], "name": "Megaloblastic anemia"} +{"id": "HP_0001891", "parentIds": ["HP_0001931"], "name": "Iron deficiency anemia"} {"id": "HP_0001892", "parentIds": ["HP_0001871"], "name": "Abnormal bleeding"} +{"id": "HP_0001894", "parentIds": ["HP_0001871"], "name": "Thrombocytosis"} {"id": "HP_0001898", "parentIds": ["HP_0001877"], "name": "Increased red blood cell mass"} +{"id": "HP_0001903", "parentIds": ["HP_0001877"], "name": "Anemia"} {"id": "HP_0001907", "parentIds": ["HP_0001977"], "name": "Thromboembolism"} {"id": "HP_0001913", "parentIds": ["HP_0001881"], "name": "Granulocytopenia"} {"id": "HP_0001915", "parentIds": ["HP_0001876", "EFO_0004272"], "name": "Aplastic anemia"} {"id": "HP_0001917", "parentIds": ["HP_0012210", "HP_0001939"], "name": "Renal amyloidosis"} {"id": "HP_0001919", "parentIds": ["HP_0000083"], "name": "Acute kidney injury"} +{"id": "HP_0001920", "parentIds": ["HP_0012210", "HP_0100545"], "name": "Renal artery stenosis"} +{"id": "HP_0001924", "parentIds": ["HP_0010972"], "name": "Sideroblastic anemia"} {"id": "HP_0001928", "parentIds": ["HP_0001871"], "name": "Abnormality of coagulation"} +{"id": "HP_0001931", "parentIds": ["HP_0010972"], "name": "Hypochromic anemia"} {"id": "HP_0001933", "parentIds": ["HP_0001892", "HP_0011276"], "name": "Subcutaneous hemorrhage"} +{"id": "HP_0001935", "parentIds": ["HP_0010972"], "name": "Microcytic anemia"} {"id": "HP_0001939", "parentIds": ["HP_0000118"], "name": "Abnormality of metabolism/homeostasis"} -{"id": "HP_0001942", "parentIds": ["HP_0001939"], "name": "Metabolic acidosis"} +{"id": "HP_0001941", "parentIds": ["HP_0001939"], "name": "Acidosis"} +{"id": "HP_0001942", "parentIds": ["HP_0001941"], "name": "Metabolic acidosis"} {"id": "HP_0001943", "parentIds": ["HP_0011015"], "name": "Hypoglycemia"} {"id": "HP_0001945", "parentIds": ["HP_0004370"], "name": "Fever"} {"id": "HP_0001948", "parentIds": ["HP_0001939"], "name": "Alkalosis"} {"id": "HP_0001952", "parentIds": ["HP_0011014"], "name": "Glucose intolerance"} -{"id": "HP_0001956", "parentIds": ["HP_0004324", "EFO_0001073"], "name": "Truncal obesity"} +{"id": "HP_0001956", "parentIds": ["HP_0001513", "EFO_0001073"], "name": "Truncal obesity"} {"id": "HP_0001959", "parentIds": ["HP_0030082"], "name": "Polydipsia"} -{"id": "HP_0001962", "parentIds": ["HP_0030956"], "name": "Palpitations"} +{"id": "HP_0001962", "parentIds": ["HP_0011675"], "name": "Palpitations"} {"id": "HP_0001967", "parentIds": ["HP_0011035"], "name": "Diffuse mesangial sclerosis"} {"id": "HP_0001974", "parentIds": ["HP_0001881"], "name": "Leukocytosis"} {"id": "HP_0001976", "parentIds": ["HP_0001928"], "name": "Reduced antithrombin III activity"} {"id": "HP_0001977", "parentIds": ["HP_0001871"], "name": "Abnormal thrombosis"} {"id": "HP_0001985", "parentIds": ["HP_0001943"], "name": "Hypoketotic hypoglycemia"} {"id": "HP_0001987", "parentIds": ["HP_0004364"], "name": "Hyperammonemia"} +{"id": "HP_0001988", "parentIds": ["HP_0001943"], "name": "Recurrent hypoglycemia"} +{"id": "HP_0001997", "parentIds": ["HP_0001369"], "name": "Gout"} {"id": "HP_0001998", "parentIds": ["HP_0001943"], "name": "Neonatal hypoglycemia"} {"id": "HP_0001999", "parentIds": ["HP_0000271"], "name": "Abnormal facial shape"} {"id": "HP_0002000", "parentIds": ["HP_0000366"], "name": "Short columella"} {"id": "HP_0002002", "parentIds": ["HP_0000153"], "name": "Deep philtrum"} -{"id": "HP_0002007", "parentIds": ["HP_0000271", "HP_0000929"], "name": "Frontal bossing"} +{"id": "HP_0002003", "parentIds": ["HP_0000271"], "name": "Large forehead"} +{"id": "HP_0002007", "parentIds": ["HP_0000271", "HP_0430000"], "name": "Frontal bossing"} {"id": "HP_0002011", "parentIds": ["HP_0000707"], "name": "Morphological central nervous system abnormality"} {"id": "HP_0002012", "parentIds": ["HP_0025031"], "name": "Abnormality of the abdominal organs"} {"id": "HP_0002013", "parentIds": ["HP_0002017"], "name": "Vomiting"} @@ -800,8 +1074,8 @@ {"id": "HP_0002017", "parentIds": ["HP_0011458"], "name": "Nausea and vomiting"} {"id": "HP_0002018", "parentIds": ["HP_0002017"], "name": "Nausea"} {"id": "HP_0002019", "parentIds": ["HP_0011458"], "name": "Constipation"} -{"id": "HP_0002024", "parentIds": ["HP_0002242"], "name": "Malabsorption"} -{"id": "HP_0002027", "parentIds": ["HP_0011458", "HP_0025142", "EFO_0003843"], "name": "Abdominal pain"} +{"id": "HP_0002024", "parentIds": ["HP_0025031"], "name": "Malabsorption"} +{"id": "HP_0002027", "parentIds": ["HP_0011458", "HP_0012531", "EFO_0003843"], "name": "Abdominal pain"} {"id": "HP_0002028", "parentIds": ["HP_0002014"], "name": "Chronic diarrhea"} {"id": "HP_0002031", "parentIds": ["HP_0012718"], "name": "Abnormal esophagus morphology"} {"id": "HP_0002032", "parentIds": ["HP_0002031"], "name": "Esophageal atresia"} @@ -813,21 +1087,27 @@ {"id": "HP_0002039", "parentIds": ["HP_0011458", "HP_0000708"], "name": "Anorexia"} {"id": "HP_0002043", "parentIds": ["EFO_0009544", "EFO_0006818", "HP_0010450"], "name": "Esophageal stricture"} {"id": "HP_0002045", "parentIds": ["HP_0004370"], "name": "Hypothermia"} +{"id": "HP_0002047", "parentIds": ["HP_0004370"], "name": "Malignant hyperthermia"} {"id": "HP_0002059", "parentIds": ["HP_0012444"], "name": "Cerebral atrophy"} {"id": "HP_0002061", "parentIds": ["HP_0001257"], "name": "Lower limb spasticity"} {"id": "HP_0002063", "parentIds": ["HP_0001276"], "name": "Rigidity"} {"id": "HP_0002066", "parentIds": ["HP_0001251", "HP_0001288"], "name": "Gait ataxia"} {"id": "HP_0002068", "parentIds": ["HP_0002015"], "name": "Neuromuscular dysphagia"} {"id": "HP_0002069", "parentIds": ["HP_0001250"], "name": "Bilateral tonic-clonic seizure"} +{"id": "HP_0002072", "parentIds": ["HP_0100022", "HP_0011442"], "name": "Chorea"} {"id": "HP_0002075", "parentIds": ["HP_0001251"], "name": "Dysdiadochokinesis"} {"id": "HP_0002079", "parentIds": ["HP_0007370"], "name": "Hypoplasia of the corpus callosum"} -{"id": "HP_0002080", "parentIds": ["HP_0001337"], "name": "Intention tremor"} +{"id": "HP_0002080", "parentIds": ["HP_0030186"], "name": "Intention tremor"} {"id": "HP_0002086", "parentIds": ["HP_0000118"], "name": "Abnormality of the respiratory system"} {"id": "HP_0002088", "parentIds": ["HP_0002086"], "name": "Abnormal lung morphology"} {"id": "HP_0002089", "parentIds": ["HP_0002088"], "name": "Pulmonary hypoplasia"} +{"id": "HP_0002090", "parentIds": ["HP_0012649", "HP_0002088"], "name": "Pneumonia"} {"id": "HP_0002091", "parentIds": ["HP_0030878"], "name": "Restrictive ventilatory defect"} {"id": "HP_0002093", "parentIds": ["HP_0002086"], "name": "Respiratory insufficiency"} {"id": "HP_0002094", "parentIds": ["HP_0002793"], "name": "Dyspnea"} +{"id": "HP_0002098", "parentIds": ["HP_0002094"], "name": "Respiratory distress"} +{"id": "HP_0002099", "parentIds": ["HP_0002715", "HP_0002086"], "name": "Asthma"} +{"id": "HP_0002102", "parentIds": ["HP_0002088"], "name": "Pleuritis"} {"id": "HP_0002104", "parentIds": ["HP_0002793"], "name": "Apnea"} {"id": "HP_0002105", "parentIds": ["HP_0032016"], "name": "Hemoptysis"} {"id": "HP_0002107", "parentIds": ["HP_0002088"], "name": "Pneumothorax"} @@ -841,34 +1121,50 @@ {"id": "HP_0002134", "parentIds": ["HP_0012443"], "name": "Abnormal basal ganglia morphology"} {"id": "HP_0002135", "parentIds": ["HP_0002514", "HP_0002134"], "name": "Basal ganglia calcification"} {"id": "HP_0002136", "parentIds": ["HP_0001288"], "name": "Broad-based gait"} -{"id": "HP_0002140", "parentIds": ["HP_0002637", "HP_0100659"], "name": "Ischemic stroke"} +{"id": "HP_0002140", "parentIds": ["HP_0002637", "HP_0001297"], "name": "Ischemic stroke"} {"id": "HP_0002141", "parentIds": ["HP_0001288"], "name": "Gait imbalance"} {"id": "HP_0002144", "parentIds": ["HP_0002011"], "name": "Tethered cord"} +{"id": "HP_0002145", "parentIds": ["HP_0000726"], "name": "Frontotemporal dementia"} {"id": "HP_0002148", "parentIds": ["HP_0100529"], "name": "Hypophosphatemia"} +{"id": "HP_0002149", "parentIds": ["HP_0004364"], "name": "Hyperuricemia"} +{"id": "HP_0002150", "parentIds": ["HP_0003110"], "name": "Hypercalciuria"} {"id": "HP_0002153", "parentIds": ["HP_0003111"], "name": "Hyperkalemia"} +{"id": "HP_0002156", "parentIds": ["HP_0003355"], "name": "Homocystinuria"} +{"id": "HP_0002160", "parentIds": ["HP_0004354"], "name": "Hyperhomocystinemia"} {"id": "HP_0002162", "parentIds": ["HP_0000464", "HP_0010720", "HP_0000234"], "name": "Low posterior hairline"} {"id": "HP_0002164", "parentIds": ["HP_0001597"], "name": "Nail dysplasia"} {"id": "HP_0002165", "parentIds": ["HP_0001597"], "name": "Pterygium of nails"} {"id": "HP_0002166", "parentIds": ["HP_0003474"], "name": "Impaired vibration sensation in the lower limbs"} {"id": "HP_0002167", "parentIds": ["HP_0011446"], "name": "Abnormality of speech or vocalization"} {"id": "HP_0002169", "parentIds": ["HP_0001347", "HP_0011442"], "name": "Clonus"} -{"id": "HP_0002171", "parentIds": ["HP_0002011"], "name": "Gliosis"} +{"id": "HP_0002171", "parentIds": ["HP_0000707"], "name": "Gliosis"} {"id": "HP_0002172", "parentIds": ["HP_0100022"], "name": "Postural instability"} {"id": "HP_0002180", "parentIds": ["GO_0008150", "HP_0007367"], "name": "Neurodegeneration"} +{"id": "HP_0002185", "parentIds": ["HP_0012443"], "name": "Neurofibrillary tangles"} +{"id": "HP_0002188", "parentIds": ["HP_0012448", "HP_0002011"], "name": "Delayed CNS myelination"} {"id": "HP_0002194", "parentIds": ["HP_0001270"], "name": "Delayed gross motor development"} {"id": "HP_0002196", "parentIds": ["HP_0002011"], "name": "Myelopathy"} +{"id": "HP_0002202", "parentIds": ["HP_0002088", "HP_0000969"], "name": "Pleural effusion"} +{"id": "HP_0002204", "parentIds": ["HP_0011025", "HP_0002597", "HP_0002086"], "name": "Pulmonary embolism"} {"id": "HP_0002205", "parentIds": ["HP_0002719", "HP_0002088"], "name": "Recurrent respiratory infections"} {"id": "HP_0002208", "parentIds": ["HP_0001574"], "name": "Coarse hair"} +{"id": "HP_0002209", "parentIds": ["HP_0000234", "HP_0008070"], "name": "Sparse scalp hair"} +{"id": "HP_0002211", "parentIds": ["HP_0001574"], "name": "White forelock"} {"id": "HP_0002221", "parentIds": ["HP_0001574"], "name": "Absent axillary hair"} +{"id": "HP_0002224", "parentIds": ["HP_0001574"], "name": "Woolly hair"} +{"id": "HP_0002226", "parentIds": ["HP_0000534"], "name": "White eyebrow"} +{"id": "HP_0002227", "parentIds": ["HP_0000499"], "name": "White eyelashes"} {"id": "HP_0002236", "parentIds": ["HP_0010720"], "name": "Frontal upsweep of hair"} {"id": "HP_0002239", "parentIds": ["HP_0001892", "MP_0001914", "HP_0012719", "HP_0011028"], "name": "Gastrointestinal hemorrhage"} {"id": "HP_0002240", "parentIds": ["HP_0001392", "HP_0001438"], "name": "Hepatomegaly"} {"id": "HP_0002242", "parentIds": ["HP_0012718"], "name": "Abnormal intestine morphology"} {"id": "HP_0002243", "parentIds": ["HP_0002242"], "name": "Protein-losing enteropathy"} +{"id": "HP_0002246", "parentIds": ["HP_0002242"], "name": "Abnormal duodenum morphology"} {"id": "HP_0002248", "parentIds": ["HP_0002239"], "name": "Hematemesis"} {"id": "HP_0002250", "parentIds": ["HP_0002242"], "name": "Abnormal large intestine morphology"} {"id": "HP_0002251", "parentIds": ["HP_0000707", "HP_0002242"], "name": "Aganglionic megacolon"} {"id": "HP_0002253", "parentIds": ["HP_0002250"], "name": "Colonic diverticula"} +{"id": "HP_0002257", "parentIds": ["HP_0000366"], "name": "Chronic rhinitis"} {"id": "HP_0002267", "parentIds": ["HP_0011442"], "name": "Exaggerated startle response"} {"id": "HP_0002269", "parentIds": ["HP_0002011"], "name": "Abnormality of neuronal migration"} {"id": "HP_0002275", "parentIds": ["HP_0011442"], "name": "Poor motor coordination"} @@ -876,50 +1172,67 @@ {"id": "HP_0002282", "parentIds": ["HP_0002269"], "name": "Gray matter heterotopia"} {"id": "HP_0002283", "parentIds": ["HP_0012444"], "name": "Global brain atrophy"} {"id": "HP_0002290", "parentIds": ["HP_0001574"], "name": "Poliosis"} -{"id": "HP_0002293", "parentIds": ["HP_0001574", "HP_0000234"], "name": "Alopecia of scalp"} +{"id": "HP_0002293", "parentIds": ["HP_0000234", "HP_0001596"], "name": "Alopecia of scalp"} {"id": "HP_0002300", "parentIds": ["HP_0002167"], "name": "Mutism"} {"id": "HP_0002304", "parentIds": ["HP_0100022", "HP_0000708"], "name": "Akinesia"} +{"id": "HP_0002305", "parentIds": ["HP_0100022", "HP_0011442"], "name": "Athetosis"} {"id": "HP_0002307", "parentIds": ["HP_0000708", "HP_0100755"], "name": "Drooling"} +{"id": "HP_0002310", "parentIds": ["HP_0100022"], "name": "Orofacial dyskinesia"} +{"id": "HP_0002312", "parentIds": ["HP_0011442"], "name": "Clumsiness"} {"id": "HP_0002313", "parentIds": ["HP_0002385", "HP_0002061"], "name": "Spastic paraparesis"} {"id": "HP_0002315", "parentIds": ["HP_0012638"], "name": "Headache"} {"id": "HP_0002317", "parentIds": ["HP_0001288"], "name": "Unsteady gait"} {"id": "HP_0002321", "parentIds": ["HP_0000598"], "name": "Vertigo"} -{"id": "HP_0002335", "parentIds": ["HP_0007360"], "name": "Agenesis of cerebellar vermis"} +{"id": "HP_0002329", "parentIds": ["HP_0004372"], "name": "Drowsiness"} +{"id": "HP_0002334", "parentIds": ["HP_0012443"], "name": "Abnormal cerebellar vermis morphology"} +{"id": "HP_0002335", "parentIds": ["HP_0002334", "HP_0007360"], "name": "Agenesis of cerebellar vermis"} +{"id": "HP_0002339", "parentIds": ["HP_0002134"], "name": "Abnormal caudate nucleus morphology"} {"id": "HP_0002342", "parentIds": ["HP_0001249"], "name": "Intellectual disability, moderate"} {"id": "HP_0002344", "parentIds": ["HP_0001268"], "name": "Progressive neurologic deterioration"} {"id": "HP_0002350", "parentIds": ["HP_0002438"], "name": "Cerebellar cyst"} {"id": "HP_0002352", "parentIds": ["HP_0012443"], "name": "Leukoencephalopathy"} {"id": "HP_0002353", "parentIds": ["HP_0012638"], "name": "EEG abnormality"} {"id": "HP_0002355", "parentIds": ["HP_0001288", "HP_0011804"], "name": "Difficulty walking"} +{"id": "HP_0002360", "parentIds": ["HP_0011446"], "name": "Sleep abnormality"} {"id": "HP_0002370", "parentIds": ["HP_0011442"], "name": "Poor coordination"} {"id": "HP_0002373", "parentIds": ["HP_0001250"], "name": "Febrile seizure (within the age range of 3 months to 6 years)"} {"id": "HP_0002376", "parentIds": ["HP_0012759"], "name": "Developmental regression"} {"id": "HP_0002378", "parentIds": ["HP_0001337"], "name": "Hand tremor"} {"id": "HP_0002381", "parentIds": ["HP_0002167"], "name": "Aphasia"} +{"id": "HP_0002383", "parentIds": ["HP_0002011", "HP_0002715"], "name": "Infectious encephalitis"} {"id": "HP_0002384", "parentIds": ["HP_0007359"], "name": "Focal impaired awareness seizure"} {"id": "HP_0002385", "parentIds": ["HP_0011442"], "name": "Paraparesis"} {"id": "HP_0002395", "parentIds": ["HP_0001347"], "name": "Lower limb hyperreflexia"} +{"id": "HP_0002410", "parentIds": ["HP_0012443"], "name": "Aqueductal stenosis"} {"id": "HP_0002411", "parentIds": ["HP_0100022"], "name": "Myokymia"} {"id": "HP_0002419", "parentIds": ["HP_0012443"], "name": "Molar tooth sign on MRI"} +{"id": "HP_0002421", "parentIds": ["HP_0001324"], "name": "Poor head control"} {"id": "HP_0002438", "parentIds": ["HP_0012443"], "name": "Cerebellar malformation"} {"id": "HP_0002442", "parentIds": ["HP_0001328"], "name": "Dyscalculia"} {"id": "HP_0002448", "parentIds": ["HP_0001298"], "name": "Progressive encephalopathy"} {"id": "HP_0002460", "parentIds": ["HP_0001324"], "name": "Distal muscle weakness"} {"id": "HP_0002465", "parentIds": ["HP_0002167"], "name": "Poor speech"} {"id": "HP_0002474", "parentIds": ["HP_0000750"], "name": "Expressive language delay"} +{"id": "HP_0002486", "parentIds": ["HP_0011804"], "name": "Myotonia"} {"id": "HP_0002500", "parentIds": ["HP_0012443"], "name": "Abnormal cerebral white matter morphology"} +{"id": "HP_0002503", "parentIds": ["HP_0002011"], "name": "Spinocerebellar tract degeneration"} {"id": "HP_0002505", "parentIds": ["HP_0002540"], "name": "Loss of ambulation"} {"id": "HP_0002508", "parentIds": ["HP_0012443"], "name": "Brainstem dysplasia"} {"id": "HP_0002509", "parentIds": ["HP_0040064", "HP_0011805", "HP_0001276"], "name": "Limb hypertonia"} {"id": "HP_0002510", "parentIds": ["HP_0001257", "HP_0100022"], "name": "Spastic tetraplegia"} {"id": "HP_0002514", "parentIds": ["HP_0012443", "HP_0000924"], "name": "Cerebral calcification"} {"id": "HP_0002515", "parentIds": ["HP_0000708", "HP_0001288"], "name": "Waddling gait"} +{"id": "HP_0002516", "parentIds": ["HP_0012638"], "name": "Increased intracranial pressure"} +{"id": "HP_0002518", "parentIds": ["HP_0002500", "HP_0002352"], "name": "Abnormal periventricular white matter morphology"} +{"id": "HP_0002524", "parentIds": ["HP_0011442"], "name": "Cataplexy"} {"id": "HP_0002536", "parentIds": ["HP_0012443", "HP_0002269"], "name": "Abnormal cortical gyration"} {"id": "HP_0002540", "parentIds": ["HP_0001288", "HP_0000708"], "name": "Inability to walk"} +{"id": "HP_0002546", "parentIds": ["HP_0002167"], "name": "Incomprehensible speech"} {"id": "HP_0002555", "parentIds": ["HP_0001574"], "name": "Absent pubic hair"} +{"id": "HP_0002557", "parentIds": ["HP_0000769"], "name": "Hypoplastic nipples"} {"id": "HP_0002566", "parentIds": ["HP_0002242"], "name": "Intestinal malrotation"} {"id": "HP_0002571", "parentIds": ["HP_0030914", "HP_0025270"], "name": "Achalasia"} -{"id": "HP_0002573", "parentIds": ["HP_0002014", "HP_0002239"], "name": "Hematochezia"} +{"id": "HP_0002573", "parentIds": ["HP_0025085", "HP_0002239"], "name": "Hematochezia"} {"id": "HP_0002574", "parentIds": ["HP_0002027"], "name": "Episodic abdominal pain"} {"id": "HP_0002575", "parentIds": ["HP_0002086", "HP_0002031"], "name": "Tracheoesophageal fistula"} {"id": "HP_0002576", "parentIds": ["HP_0002242"], "name": "Intussusception"} @@ -931,33 +1244,45 @@ {"id": "HP_0002617", "parentIds": ["HP_0002597", "HP_0030680"], "name": "Vascular dilatation"} {"id": "HP_0002619", "parentIds": ["HP_0002624"], "name": "Varicose veins"} {"id": "HP_0002624", "parentIds": ["HP_0030680", "HP_0002597"], "name": "Abnormal venous morphology"} +{"id": "HP_0002633", "parentIds": ["HP_0002597", "HP_0030680"], "name": "Vasculitis"} {"id": "HP_0002637", "parentIds": ["HP_0002597", "EFO_0000556", "HP_0011025"], "name": "Cerebral ischemia"} {"id": "HP_0002647", "parentIds": ["HP_0001679"], "name": "Aortic dissection"} +{"id": "HP_0002651", "parentIds": ["HP_0002652"], "name": "Spondyloepimetaphyseal dysplasia"} {"id": "HP_0002652", "parentIds": ["HP_0011842"], "name": "Skeletal dysplasia"} -{"id": "HP_0002653", "parentIds": ["HP_0025142", "HP_0000924"], "name": "Bone pain"} +{"id": "HP_0002653", "parentIds": ["HP_0012531", "HP_0000924"], "name": "Bone pain"} {"id": "HP_0002655", "parentIds": ["HP_0002652"], "name": "Spondyloepiphyseal dysplasia"} {"id": "HP_0002659", "parentIds": ["HP_0000924"], "name": "Increased susceptibility to fractures"} +{"id": "HP_0002683", "parentIds": ["HP_0000929"], "name": "Abnormal calvaria morphology"} {"id": "HP_0002705", "parentIds": ["HP_0000218"], "name": "High, narrow palate"} {"id": "HP_0002714", "parentIds": ["HP_0011338"], "name": "Downturned corners of mouth"} {"id": "HP_0002715", "parentIds": ["HP_0000118"], "name": "Abnormality of the immune system"} {"id": "HP_0002716", "parentIds": ["HP_0100763"], "name": "Lymphadenopathy"} +{"id": "HP_0002717", "parentIds": ["HP_0000834"], "name": "Adrenal overactivity"} {"id": "HP_0002719", "parentIds": ["HP_0002715"], "name": "Recurrent infections"} {"id": "HP_0002721", "parentIds": ["HP_0002715"], "name": "Immunodeficiency"} +{"id": "HP_0002725", "parentIds": ["HP_0002960"], "name": "Systemic lupus erythematosus"} {"id": "HP_0002745", "parentIds": ["HP_0000153"], "name": "Oral leukoplakia"} {"id": "HP_0002747", "parentIds": ["HP_0002093", "HP_0001324"], "name": "Respiratory insufficiency due to muscle weakness"} +{"id": "HP_0002748", "parentIds": ["HP_0004349"], "name": "Rickets"} {"id": "HP_0002750", "parentIds": ["HP_0000924"], "name": "Delayed skeletal maturation"} {"id": "HP_0002751", "parentIds": ["HP_0002808"], "name": "Kyphoscoliosis"} {"id": "HP_0002756", "parentIds": ["HP_0002659"], "name": "Pathologic fracture"} {"id": "HP_0002757", "parentIds": ["HP_0002659"], "name": "Recurrent fractures"} {"id": "HP_0002779", "parentIds": ["HP_0002086"], "name": "Tracheomalacia"} +{"id": "HP_0002783", "parentIds": ["HP_0002205"], "name": "Recurrent lower respiratory tract infections"} {"id": "HP_0002788", "parentIds": ["HP_0000366", "HP_0002205"], "name": "Recurrent upper respiratory tract infections"} +{"id": "HP_0002789", "parentIds": ["HP_0002793"], "name": "Tachypnea"} {"id": "HP_0002791", "parentIds": ["HP_0002793"], "name": "Hypoventilation"} {"id": "HP_0002793", "parentIds": ["HP_0002086"], "name": "Abnormal pattern of respiration"} +{"id": "HP_0002797", "parentIds": ["HP_0003330"], "name": "Osteolysis"} {"id": "HP_0002808", "parentIds": ["HP_0000925"], "name": "Kyphosis"} +{"id": "HP_0002812", "parentIds": ["HP_0011842", "HP_0002814"], "name": "Coxa vara"} {"id": "HP_0002814", "parentIds": ["HP_0040064"], "name": "Abnormality of the lower limb"} {"id": "HP_0002817", "parentIds": ["HP_0040064"], "name": "Abnormality of the upper limb"} -{"id": "HP_0002829", "parentIds": ["HP_0025142"], "name": "Arthralgia"} +{"id": "HP_0002829", "parentIds": ["HP_0012531"], "name": "Arthralgia"} +{"id": "HP_0002835", "parentIds": ["HP_0002086"], "name": "Aspiration"} {"id": "HP_0002840", "parentIds": ["HP_0012649", "HP_0100763"], "name": "Lymphadenitis"} +{"id": "HP_0002850", "parentIds": ["HP_0004313"], "name": "Decreased circulating total IgM"} {"id": "HP_0002857", "parentIds": ["HP_0002979"], "name": "Genu valgum"} {"id": "HP_0002883", "parentIds": ["HP_0002793"], "name": "Hyperventilation"} {"id": "HP_0002900", "parentIds": ["HP_0003111"], "name": "Hypokalemia"} @@ -966,36 +1291,43 @@ {"id": "HP_0002904", "parentIds": ["HP_0004364", "HP_0004354"], "name": "Hyperbilirubinemia"} {"id": "HP_0002905", "parentIds": ["HP_0100529"], "name": "Hyperphosphatemia"} {"id": "HP_0002907", "parentIds": ["HP_0000790"], "name": "Microscopic hematuria"} -{"id": "HP_0002910", "parentIds": ["HP_0001939"], "name": "Elevated hepatic transaminase"} +{"id": "HP_0002910", "parentIds": ["HP_0001939"], "name": "Elevated circulating hepatic transaminase concentration"} +{"id": "HP_0002912", "parentIds": ["HP_0100508", "HP_0004354"], "name": "Methylmalonic acidemia"} {"id": "HP_0002916", "parentIds": ["HP_0011017"], "name": "Abnormality of chromosome segregation"} {"id": "HP_0002917", "parentIds": ["HP_0003111"], "name": "Hypomagnesemia"} {"id": "HP_0002919", "parentIds": ["HP_0003110"], "name": "Ketonuria"} {"id": "HP_0002921", "parentIds": ["HP_0002011"], "name": "Abnormal cerebrospinal fluid morphology"} +{"id": "HP_0002926", "parentIds": ["HP_0000820"], "name": "Abnormality of thyroid physiology"} {"id": "HP_0002928", "parentIds": ["HP_0003287"], "name": "Decreased activity of the pyruvate dehydrogenase complex"} {"id": "HP_0002936", "parentIds": ["HP_0003474"], "name": "Distal sensory impairment"} -{"id": "HP_0002937", "parentIds": ["HP_0000925"], "name": "Hemivertebrae"} -{"id": "HP_0002938", "parentIds": ["HP_0000925"], "name": "Lumbar hyperlordosis"} +{"id": "HP_0002937", "parentIds": ["HP_0003312"], "name": "Hemivertebrae"} +{"id": "HP_0002938", "parentIds": ["HP_0003307"], "name": "Lumbar hyperlordosis"} {"id": "HP_0002943", "parentIds": ["HP_0000925", "HP_0000765"], "name": "Thoracic scoliosis"} {"id": "HP_0002944", "parentIds": ["HP_0000925", "EFO_0004273"], "name": "Thoracolumbar scoliosis"} +{"id": "HP_0002960", "parentIds": ["HP_0002715"], "name": "Autoimmunity"} {"id": "HP_0002970", "parentIds": ["HP_0002979"], "name": "Genu varum"} {"id": "HP_0002979", "parentIds": ["HP_0002814", "HP_0006487"], "name": "Bowing of the legs"} {"id": "HP_0002980", "parentIds": ["HP_0002979"], "name": "Femoral bowing"} +{"id": "HP_0002983", "parentIds": ["HP_0009826"], "name": "Micromelia"} {"id": "HP_0002986", "parentIds": ["HP_0006487", "HP_0040070"], "name": "Radial bowing"} {"id": "HP_0002987", "parentIds": ["HP_0009810", "HP_0003121"], "name": "Elbow flexion contracture"} {"id": "HP_0002999", "parentIds": ["HP_0002814", "HP_0001373"], "name": "Patellar dislocation"} {"id": "HP_0003010", "parentIds": ["HP_0001892"], "name": "Prolonged bleeding time"} {"id": "HP_0003011", "parentIds": ["HP_0000118"], "name": "Abnormality of the musculature"} -{"id": "HP_0003026", "parentIds": ["HP_0011842"], "name": "Short long bone"} +{"id": "HP_0003026", "parentIds": ["HP_0011314"], "name": "Short long bone"} +{"id": "HP_0003027", "parentIds": ["HP_0009826"], "name": "Mesomelia"} {"id": "HP_0003031", "parentIds": ["HP_0006487", "HP_0040070"], "name": "Ulnar bowing"} {"id": "HP_0003040", "parentIds": ["HP_0011842"], "name": "Arthropathy"} {"id": "HP_0003049", "parentIds": ["HP_0009810"], "name": "Ulnar deviation of the wrist"} {"id": "HP_0003065", "parentIds": ["HP_0011842", "HP_0002814"], "name": "Patellar hypoplasia"} +{"id": "HP_0003071", "parentIds": ["HP_0011314"], "name": "Flattened epiphysis"} {"id": "HP_0003072", "parentIds": ["HP_0004363"], "name": "Hypercalcemia"} {"id": "HP_0003073", "parentIds": ["HP_0001939"], "name": "Hypoalbuminemia"} {"id": "HP_0003074", "parentIds": ["HP_0011015"], "name": "Hyperglycemia"} {"id": "HP_0003076", "parentIds": ["HP_0003110"], "name": "Glycosuria"} -{"id": "HP_0003086", "parentIds": ["HP_0009826"], "name": "Acromesomelia"} -{"id": "HP_0003108", "parentIds": ["HP_0003110"], "name": "Hyperglycinuria"} +{"id": "HP_0003077", "parentIds": ["HP_0003119"], "name": "Hyperlipidemia"} +{"id": "HP_0003086", "parentIds": ["HP_0003027"], "name": "Acromesomelia"} +{"id": "HP_0003108", "parentIds": ["HP_0003355"], "name": "Hyperglycinuria"} {"id": "HP_0003110", "parentIds": ["HP_0001939", "HP_0011277"], "name": "Abnormality of urine homeostasis"} {"id": "HP_0003111", "parentIds": ["HP_0001939"], "name": "Abnormal blood ion concentration"} {"id": "HP_0003115", "parentIds": ["HP_0030956"], "name": "Abnormal EKG"} @@ -1003,56 +1335,84 @@ {"id": "HP_0003119", "parentIds": ["HP_0001939"], "name": "Abnormal circulating lipid concentration"} {"id": "HP_0003121", "parentIds": ["HP_0001371"], "name": "Limb joint contracture"} {"id": "HP_0003124", "parentIds": ["HP_0003119"], "name": "Hypercholesterolemia"} +{"id": "HP_0003125", "parentIds": ["HP_0001928"], "name": "Reduced factor VIII activity"} {"id": "HP_0003127", "parentIds": ["HP_0003110"], "name": "Hypocalciuria"} +{"id": "HP_0003128", "parentIds": ["HP_0001941"], "name": "Lactic acidosis"} +{"id": "HP_0003138", "parentIds": ["HP_0004364"], "name": "Increased blood urea nitrogen"} {"id": "HP_0003146", "parentIds": ["HP_0003119"], "name": "Hypocholesterolemia"} {"id": "HP_0003150", "parentIds": ["HP_0003110"], "name": "Glutaric aciduria"} -{"id": "HP_0003154", "parentIds": ["HP_0003117"], "name": "Increased circulating ACTH level"} +{"id": "HP_0003154", "parentIds": ["HP_0011043"], "name": "Increased circulating ACTH level"} {"id": "HP_0003155", "parentIds": ["HP_0001939"], "name": "Elevated circulating alkaline phosphatase concentration"} {"id": "HP_0003163", "parentIds": ["HP_0003110"], "name": "Elevated urinary delta-aminolevulinic acid"} -{"id": "HP_0003179", "parentIds": ["HP_0002814", "HP_0011842"], "name": "Protrusio acetabuli"} +{"id": "HP_0003179", "parentIds": ["HP_0001384"], "name": "Protrusio acetabuli"} +{"id": "HP_0003187", "parentIds": ["HP_0010311"], "name": "Breast hypoplasia"} {"id": "HP_0003196", "parentIds": ["HP_0000366"], "name": "Short nose"} +{"id": "HP_0003198", "parentIds": ["HP_0011805"], "name": "Myopathy"} {"id": "HP_0003199", "parentIds": ["HP_0011805"], "name": "Decreased muscle mass"} {"id": "HP_0003202", "parentIds": ["HP_0030236"], "name": "Skeletal muscle atrophy"} {"id": "HP_0003212", "parentIds": ["HP_0002715", "HP_0011017", "HP_0001871"], "name": "Increased circulating IgE level"} +{"id": "HP_0003225", "parentIds": ["HP_0001928"], "name": "Reduced coagulation factor V activity"} {"id": "HP_0003228", "parentIds": ["HP_0010931"], "name": "Hypernatremia"} {"id": "HP_0003231", "parentIds": ["HP_0004338"], "name": "Hypertyrosinemia"} {"id": "HP_0003234", "parentIds": ["HP_0003119", "HP_0004354", "HP_0003287"], "name": "Decreased circulating carnitine concentration"} {"id": "HP_0003236", "parentIds": ["HP_0004364"], "name": "Elevated circulating creatine kinase concentration"} {"id": "HP_0003244", "parentIds": ["HP_0000079", "HP_0000078"], "name": "Penile hypospadias"} +{"id": "HP_0003248", "parentIds": ["HP_0000062"], "name": "Gonadal tissue inappropriate for external genitalia or chromosomal sex"} +{"id": "HP_0003249", "parentIds": ["HP_0000078"], "name": "Genital ulcers"} +{"id": "HP_0003250", "parentIds": ["HP_0000008"], "name": "Aplasia of the vagina"} {"id": "HP_0003269", "parentIds": ["HP_0012447", "HP_0002011"], "name": "Sudanophilic leukodystrophy"} {"id": "HP_0003270", "parentIds": ["HP_0011458"], "name": "Abdominal distention"} -{"id": "HP_0003274", "parentIds": ["HP_0002814", "HP_0011842"], "name": "Hypoplastic acetabulae"} +{"id": "HP_0003274", "parentIds": ["HP_0001384"], "name": "Hypoplastic acetabulae"} {"id": "HP_0003282", "parentIds": ["HP_0001939"], "name": "Low alkaline phosphatase"} {"id": "HP_0003287", "parentIds": ["HP_0012103"], "name": "Abnormality of mitochondrial metabolism"} {"id": "HP_0003298", "parentIds": ["HP_0002011"], "name": "Spina bifida occulta"} {"id": "HP_0003306", "parentIds": ["HP_0000925"], "name": "Spinal rigidity"} +{"id": "HP_0003307", "parentIds": ["HP_0000925"], "name": "Hyperlordosis"} +{"id": "HP_0003312", "parentIds": ["HP_0003468"], "name": "Abnormal form of the vertebral bodies"} {"id": "HP_0003319", "parentIds": ["HP_0000925"], "name": "Abnormality of the cervical spine"} {"id": "HP_0003323", "parentIds": ["HP_0001324"], "name": "Progressive muscle weakness"} {"id": "HP_0003325", "parentIds": ["HP_0001324", "HP_0040064", "HP_0011805"], "name": "Limb-girdle muscle weakness"} -{"id": "HP_0003326", "parentIds": ["HP_0025142"], "name": "Myalgia"} +{"id": "HP_0003326", "parentIds": ["HP_0012531"], "name": "Myalgia"} +{"id": "HP_0003330", "parentIds": ["HP_0011842"], "name": "Abnormal bone structure"} +{"id": "HP_0003344", "parentIds": ["HP_0003110"], "name": "3-Methylglutaric aciduria"} +{"id": "HP_0003351", "parentIds": ["HP_0000818"], "name": "Decreased circulating renin level"} +{"id": "HP_0003355", "parentIds": ["HP_0003110"], "name": "Aminoaciduria"} {"id": "HP_0003376", "parentIds": ["HP_0001288"], "name": "Steppage gait"} {"id": "HP_0003390", "parentIds": ["HP_0000763"], "name": "Sensory axonal neuropathy"} {"id": "HP_0003394", "parentIds": ["HP_0011804"], "name": "Muscle spasm"} {"id": "HP_0003401", "parentIds": ["HP_0003474"], "name": "Paresthesia"} -{"id": "HP_0003418", "parentIds": ["HP_0000925", "EFO_0003843", "HP_0025142"], "name": "Back pain"} +{"id": "HP_0003418", "parentIds": ["HP_0012531", "HP_0000925", "EFO_0003843"], "name": "Back pain"} {"id": "HP_0003419", "parentIds": ["HP_0003418"], "name": "Low back pain"} +{"id": "HP_0003423", "parentIds": ["HP_0002944", "HP_0000765", "HP_0002751"], "name": "Thoracolumbar kyphoscoliosis"} {"id": "HP_0003429", "parentIds": ["HP_0012447", "HP_0002011"], "name": "CNS hypomyelination"} {"id": "HP_0003445", "parentIds": ["HP_0003457"], "name": "EMG: neuropathic changes"} {"id": "HP_0003457", "parentIds": ["HP_0011804"], "name": "EMG abnormality"} -{"id": "HP_0003458", "parentIds": ["HP_0011805", "HP_0003457"], "name": "EMG: myopathic abnormalities"} +{"id": "HP_0003458", "parentIds": ["HP_0003457", "HP_0003198"], "name": "EMG: myopathic abnormalities"} +{"id": "HP_0003468", "parentIds": ["HP_0000925"], "name": "Abnormal vertebral morphology"} {"id": "HP_0003470", "parentIds": ["HP_0011442"], "name": "Paralysis"} +{"id": "HP_0003473", "parentIds": ["HP_0001324", "HP_0012638"], "name": "Fatigable weakness"} {"id": "HP_0003474", "parentIds": ["HP_0012638"], "name": "Somatic sensory dysfunction"} {"id": "HP_0003482", "parentIds": ["HP_0003457"], "name": "EMG: axonal abnormality"} {"id": "HP_0003487", "parentIds": ["HP_0031826", "HP_0007256"], "name": "Babinski sign"} -{"id": "HP_0003489", "parentIds": ["HP_0012638"], "name": "Acute episodes of neuropathic symptoms"} +{"id": "HP_0003489", "parentIds": ["HP_0009830"], "name": "Acute episodes of neuropathic symptoms"} +{"id": "HP_0003495", "parentIds": ["HP_0001939"], "name": "GM2-ganglioside accumulation"} +{"id": "HP_0003502", "parentIds": ["HP_0003508"], "name": "Mild short stature"} {"id": "HP_0003508", "parentIds": ["HP_0004322"], "name": "Proportionate short stature"} +{"id": "HP_0003510", "parentIds": ["HP_0003508"], "name": "Severe short stature"} {"id": "HP_0003521", "parentIds": ["HP_0004322", "HP_0011842"], "name": "Disproportionate short-trunk short stature"} {"id": "HP_0003530", "parentIds": ["EFO_1000014", "HP_0004354"], "name": "Elevated circulating glutaric acid concentration"} {"id": "HP_0003546", "parentIds": ["HP_0025142", "HP_0011804"], "name": "Exercise intolerance"} {"id": "HP_0003547", "parentIds": ["HP_0002817", "HP_0003325"], "name": "Shoulder girdle muscle weakness"} {"id": "HP_0003549", "parentIds": ["HP_0000118"], "name": "Abnormality of connective tissue"} +{"id": "HP_0003552", "parentIds": ["HP_0011804"], "name": "Muscle stiffness"} +{"id": "HP_0003560", "parentIds": ["HP_0011805"], "name": "Muscular dystrophy"} {"id": "HP_0003565", "parentIds": ["HP_0001939"], "name": "Elevated erythrocyte sedimentation rate"} +{"id": "HP_0003577", "parentIds": ["HP_0003674"], "name": "Congenital onset"} +{"id": "HP_0003581", "parentIds": ["HP_0003674"], "name": "Adult onset"} +{"id": "HP_0003593", "parentIds": ["HP_0410280"], "name": "Infantile onset"} {"id": "HP_0003614", "parentIds": ["HP_0003110"], "name": "Trimethylaminuria"} +{"id": "HP_0003621", "parentIds": ["HP_0410280"], "name": "Juvenile onset"} +{"id": "HP_0003623", "parentIds": ["HP_0003674"], "name": "Neonatal onset"} {"id": "HP_0003674", "parentIds": ["EFO_0004949"], "name": "Onset"} {"id": "HP_0003690", "parentIds": ["HP_0001324", "HP_0011805", "HP_0040064"], "name": "Limb muscle weakness"} {"id": "HP_0003698", "parentIds": ["HP_0011804"], "name": "Difficulty standing"} @@ -1061,8 +1421,8 @@ {"id": "HP_0003738", "parentIds": ["HP_0003326"], "name": "Exercise-induced myalgia"} {"id": "HP_0003749", "parentIds": ["HP_0003325"], "name": "Pelvic girdle muscle weakness"} {"id": "HP_0003752", "parentIds": ["HP_0001324"], "name": "Episodic flaccid weakness"} -{"id": "HP_0003756", "parentIds": ["EFO_0004145", "HP_0011805"], "name": "Skeletal myopathy"} -{"id": "HP_0003789", "parentIds": ["HP_0011805"], "name": "Minicore myopathy"} +{"id": "HP_0003756", "parentIds": ["EFO_0004145", "HP_0003198"], "name": "Skeletal myopathy"} +{"id": "HP_0003789", "parentIds": ["HP_0003198"], "name": "Minicore myopathy"} {"id": "HP_0003805", "parentIds": ["HP_0011805"], "name": "Rimmed vacuoles"} {"id": "HP_0003808", "parentIds": ["HP_0011804"], "name": "Abnormal muscle tone"} {"id": "HP_0003811", "parentIds": ["EFO_0004352"], "name": "Neonatal death"} @@ -1072,16 +1432,21 @@ {"id": "HP_0004209", "parentIds": ["HP_0040019"], "name": "Clinodactyly of the 5th finger"} {"id": "HP_0004277", "parentIds": ["HP_0011842", "HP_0002817"], "name": "Fractured hand bones"} {"id": "HP_0004296", "parentIds": ["HP_0002597", "HP_0012718", "HP_0030680"], "name": "Abnormal gastrointestinal vascular morphology"} -{"id": "HP_0004299", "parentIds": ["HP_0025031", "HP_0100790"], "name": "Hernia of the abdominal wall"} -{"id": "HP_0004308", "parentIds": ["HP_0030956"], "name": "Ventricular arrhythmia"} +{"id": "HP_0004298", "parentIds": ["HP_0025031"], "name": "Abnormality of the abdominal wall"} +{"id": "HP_0004299", "parentIds": ["HP_0100790", "HP_0004298"], "name": "Hernia of the abdominal wall"} +{"id": "HP_0004308", "parentIds": ["HP_0011675"], "name": "Ventricular arrhythmia"} +{"id": "HP_0004313", "parentIds": ["HP_0002715", "HP_0011017", "HP_0001871"], "name": "Decreased circulating antibody level"} +{"id": "HP_0004315", "parentIds": ["HP_0004313"], "name": "Decreased circulating IgG level"} +{"id": "HP_0004319", "parentIds": ["HP_0000834"], "name": "Decreased circulating aldosterone level"} {"id": "HP_0004322", "parentIds": ["HP_0001510"], "name": "Short stature"} {"id": "HP_0004323", "parentIds": ["HP_0001507"], "name": "Abnormality of body weight"} {"id": "HP_0004324", "parentIds": ["HP_0004323"], "name": "Increased body weight"} {"id": "HP_0004325", "parentIds": ["HP_0004323"], "name": "Decreased body weight"} {"id": "HP_0004326", "parentIds": ["HP_0001824"], "name": "Cachexia"} +{"id": "HP_0004328", "parentIds": ["HP_0000478"], "name": "Abnormal anterior eye segment morphology"} {"id": "HP_0004329", "parentIds": ["HP_0000478"], "name": "Abnormal posterior eye segment morphology"} {"id": "HP_0004338", "parentIds": ["HP_0004354"], "name": "Abnormal circulating aromatic amino acid concentration"} -{"id": "HP_0004348", "parentIds": ["HP_0011842"], "name": "Abnormality of bone mineral density"} +{"id": "HP_0004348", "parentIds": ["HP_0003330"], "name": "Abnormality of bone mineral density"} {"id": "HP_0004349", "parentIds": ["HP_0004348"], "name": "Reduced bone mineral density"} {"id": "HP_0004354", "parentIds": ["HP_0001939"], "name": "Abnormal circulating carboxylic acid concentration"} {"id": "HP_0004363", "parentIds": ["HP_0003111"], "name": "Abnormal circulating calcium concentration"} @@ -1089,8 +1454,13 @@ {"id": "HP_0004370", "parentIds": ["HP_0001939"], "name": "Abnormality of temperature regulation"} {"id": "HP_0004371", "parentIds": ["HP_0011017"], "name": "Abnormality of glycosaminoglycan metabolism"} {"id": "HP_0004372", "parentIds": ["HP_0011446"], "name": "Reduced consciousness"} +{"id": "HP_0004374", "parentIds": ["HP_0011442"], "name": "Hemiplegia/hemiparesis"} {"id": "HP_0004378", "parentIds": ["HP_0025031"], "name": "Abnormality of the anus"} +{"id": "HP_0004381", "parentIds": ["HP_0031652"], "name": "Supravalvular aortic stenosis"} +{"id": "HP_0004384", "parentIds": ["HP_0001660"], "name": "Type I truncus arteriosus"} {"id": "HP_0004386", "parentIds": ["HP_0012719", "HP_0012649"], "name": "Gastrointestinal inflammation"} +{"id": "HP_0004390", "parentIds": ["HP_0002242", "HP_0010566"], "name": "Hamartomatous polyposis"} +{"id": "HP_0004394", "parentIds": ["HP_0012718"], "name": "Multiple gastric polyps"} {"id": "HP_0004398", "parentIds": ["HP_0012718"], "name": "Peptic ulcer"} {"id": "HP_0004401", "parentIds": ["HP_0004796", "HP_0002579", "HP_0002242"], "name": "Meconium ileus"} {"id": "HP_0004408", "parentIds": ["HP_0012638", "HP_0000366"], "name": "Abnormality of the sense of smell"} @@ -1098,17 +1468,21 @@ {"id": "HP_0004419", "parentIds": ["HP_0004418"], "name": "Recurrent thrombophlebitis"} {"id": "HP_0004420", "parentIds": ["HP_0001977"], "name": "Arterial thrombosis"} {"id": "HP_0004421", "parentIds": ["HP_0032263"], "name": "Elevated systolic blood pressure"} +{"id": "HP_0004430", "parentIds": ["HP_0005387"], "name": "Severe combined immunodeficiency"} +{"id": "HP_0004431", "parentIds": ["HP_0002715"], "name": "Reduced circulating complement concentration"} {"id": "HP_0004439", "parentIds": ["HP_0000929", "HP_0000271"], "name": "Craniofacial dysostosis"} -{"id": "HP_0004443", "parentIds": ["HP_0000929"], "name": "Lambdoidal craniosynostosis"} +{"id": "HP_0004443", "parentIds": ["HP_0002683"], "name": "Lambdoidal craniosynostosis"} {"id": "HP_0004448", "parentIds": ["HP_0006554"], "name": "Fulminant hepatic failure"} {"id": "HP_0004467", "parentIds": ["HP_0000271", "HP_0011121"], "name": "Preauricular pit"} {"id": "HP_0004474", "parentIds": ["HP_0001476"], "name": "Persistent open anterior fontanelle"} {"id": "HP_0004481", "parentIds": ["HP_0000256"], "name": "Progressive macrocephaly"} {"id": "HP_0004482", "parentIds": ["HP_0000256"], "name": "Relative macrocephaly"} -{"id": "HP_0004532", "parentIds": ["HP_0001574"], "name": "Sacral hypertrichosis"} -{"id": "HP_0004552", "parentIds": ["Orphanet_68346", "HP_0011121", "HP_0100699", "HP_0002293", "MONDO_0100118"], "name": "Scarring alopecia of scalp"} -{"id": "HP_0004602", "parentIds": ["HP_0000925"], "name": "Cervical C2/C3 vertebral fusion"} -{"id": "HP_0004605", "parentIds": ["HP_0000925"], "name": "Absent vertebral body mineralization"} +{"id": "HP_0004532", "parentIds": ["HP_0000998"], "name": "Sacral hypertrichosis"} +{"id": "HP_0004552", "parentIds": ["Orphanet_68346", "HP_0011121", "EFO_0000701", "HP_0100699", "HP_0002293"], "name": "Scarring alopecia of scalp"} +{"id": "HP_0004566", "parentIds": ["HP_0003312"], "name": "Pear-shaped vertebrae"} +{"id": "HP_0004602", "parentIds": ["HP_0003468"], "name": "Cervical C2/C3 vertebral fusion"} +{"id": "HP_0004605", "parentIds": ["HP_0003468", "HP_0003330"], "name": "Absent vertebral body mineralization"} +{"id": "HP_0004619", "parentIds": ["HP_0002944", "HP_0002751"], "name": "Lumbar kyphoscoliosis"} {"id": "HP_0004691", "parentIds": ["HP_0001770"], "name": "2-3 toe syndactyly"} {"id": "HP_0004696", "parentIds": ["HP_0001762"], "name": "Talipes cavus equinovarus"} {"id": "HP_0004719", "parentIds": ["HP_0012210"], "name": "Hyperechogenic kidneys"} @@ -1119,22 +1493,28 @@ {"id": "HP_0004758", "parentIds": ["HP_0001649"], "name": "Effort-induced polymorphic ventricular tachycardia"} {"id": "HP_0004763", "parentIds": ["HP_0004755"], "name": "Paroxysmal supraventricular tachycardia"} {"id": "HP_0004787", "parentIds": ["HP_0012115", "HP_0004448"], "name": "Fulminant hepatitis"} +{"id": "HP_0004789", "parentIds": ["HP_0002024"], "name": "Lactose intolerance"} {"id": "HP_0004796", "parentIds": ["HP_0012719"], "name": "Gastrointestinal obstruction"} {"id": "HP_0004798", "parentIds": ["HP_0002719", "HP_0012719"], "name": "Recurrent infection of the gastrointestinal tract"} -{"id": "HP_0004804", "parentIds": ["EFO_0005558"], "name": "Congenital hemolytic anemia"} +{"id": "HP_0004804", "parentIds": ["EFO_0005558", "HP_0001903"], "name": "Congenital hemolytic anemia"} {"id": "HP_0004839", "parentIds": ["HP_0001877"], "name": "Pyropoikilocytosis"} -{"id": "HP_0004840", "parentIds": ["HP_0010972"], "name": "Hypochromic microcytic anemia"} +{"id": "HP_0004840", "parentIds": ["HP_0001931", "HP_0001935"], "name": "Hypochromic microcytic anemia"} +{"id": "HP_0004841", "parentIds": ["HP_0001928"], "name": "Reduced factor XII activity"} {"id": "HP_0004855", "parentIds": ["HP_0001928"], "name": "Reduced protein S activity"} {"id": "HP_0004872", "parentIds": ["HP_0004299"], "name": "Incisional hernia"} +{"id": "HP_0004875", "parentIds": ["HP_0010307", "HP_0002093"], "name": "Neonatal inspiratory stridor"} {"id": "HP_0004887", "parentIds": ["HP_0002093"], "name": "Respiratory failure requiring assisted ventilation"} -{"id": "HP_0004902", "parentIds": ["HP_0001939"], "name": "Congenital lactic acidosis"} -{"id": "HP_0004925", "parentIds": ["HP_0001939"], "name": "Chronic lactic acidosis"} +{"id": "HP_0004902", "parentIds": ["HP_0003128"], "name": "Congenital lactic acidosis"} +{"id": "HP_0004925", "parentIds": ["HP_0003128"], "name": "Chronic lactic acidosis"} {"id": "HP_0004933", "parentIds": ["HP_0002647"], "name": "Ascending aortic dissection"} {"id": "HP_0004936", "parentIds": ["HP_0001977"], "name": "Venous thrombosis"} {"id": "HP_0004969", "parentIds": ["HP_0002088", "HP_0002597", "HP_0030680"], "name": "Peripheral pulmonary artery stenosis"} {"id": "HP_0005033", "parentIds": ["HP_0040070", "HP_0009824", "HP_0003026"], "name": "Distal ulnar hypoplasia"} {"id": "HP_0005085", "parentIds": ["HP_0011842", "HP_0002814"], "name": "Limited knee flexion/extension"} +{"id": "HP_0005092", "parentIds": ["HP_0040064", "HP_0011314"], "name": "Streaky metaphyseal sclerosis"} {"id": "HP_0005117", "parentIds": ["HP_0032263"], "name": "Elevated diastolic blood pressure"} +{"id": "HP_0005120", "parentIds": ["HP_0001627"], "name": "Abnormal cardiac atrium morphology"} +{"id": "HP_0005132", "parentIds": ["HP_0001627"], "name": "Pericardial constriction"} {"id": "HP_0005165", "parentIds": ["HP_0003115"], "name": "Shortened PR interval"} {"id": "HP_0005180", "parentIds": ["HP_0011025"], "name": "Tricuspid regurgitation"} {"id": "HP_0005181", "parentIds": ["HP_0100545"], "name": "Premature coronary artery atherosclerosis"} @@ -1144,148 +1524,211 @@ {"id": "HP_0005224", "parentIds": ["HP_0002034", "HP_0002715"], "name": "Rectal abscess"} {"id": "HP_0005230", "parentIds": ["HP_0012440"], "name": "Biliary tract obstruction"} {"id": "HP_0005241", "parentIds": ["HP_0002242", "HP_0000707"], "name": "Total intestinal aganglionosis"} +{"id": "HP_0005257", "parentIds": ["HP_0000765"], "name": "Thoracic hypoplasia"} {"id": "HP_0005268", "parentIds": ["HP_0034241"], "name": "Miscarriage"} {"id": "HP_0005280", "parentIds": ["HP_0000366"], "name": "Depressed nasal bridge"} {"id": "HP_0005281", "parentIds": ["HP_0000366"], "name": "Hypoplastic nasal bridge"} +{"id": "HP_0005310", "parentIds": ["HP_0002633"], "name": "Large vessel vasculitis"} {"id": "HP_0005359", "parentIds": ["HP_0010515"], "name": "Aplasia of the thymus"} {"id": "HP_0005387", "parentIds": ["HP_0002721"], "name": "Combined immunodeficiency"} -{"id": "HP_0005465", "parentIds": ["HP_0011821", "HP_0000271"], "name": "Facial hyperostosis"} -{"id": "HP_0005469", "parentIds": ["HP_0000929"], "name": "Flat occiput"} +{"id": "HP_0005458", "parentIds": ["HP_0000929"], "name": "Premature closure of fontanelles"} +{"id": "HP_0005465", "parentIds": ["HP_0011821", "HP_0000271", "HP_0100774", "HP_0002683"], "name": "Facial hyperostosis"} +{"id": "HP_0005469", "parentIds": ["HP_0012294"], "name": "Flat occiput"} {"id": "HP_0005484", "parentIds": ["HP_0000252"], "name": "Secondary microcephaly"} {"id": "HP_0005487", "parentIds": ["HP_0000929", "HP_0000271"], "name": "Prominent metopic ridge"} +{"id": "HP_0005508", "parentIds": ["HP_0031047"], "name": "Monoclonal immunoglobulin M proteinemia"} +{"id": "HP_0005518", "parentIds": ["HP_0001877"], "name": "Increased mean corpuscular volume"} {"id": "HP_0005521", "parentIds": ["HP_0001977"], "name": "Disseminated intravascular coagulation"} {"id": "HP_0005532", "parentIds": ["HP_0010972"], "name": "Macrocytic dyserythropoietic anemia"} +{"id": "HP_0005541", "parentIds": ["HP_0012234"], "name": "Congenital agranulocytosis"} {"id": "HP_0005562", "parentIds": ["HP_0000107"], "name": "Multiple renal cysts"} +{"id": "HP_0005593", "parentIds": ["HP_0001010"], "name": "Macular hypopigmented whorls, streaks, and patches"} {"id": "HP_0005609", "parentIds": ["HP_0012438"], "name": "Gallbladder dysfunction"} {"id": "HP_0005613", "parentIds": ["HP_0002814", "HP_0011842"], "name": "Aplasia/hypoplasia of the femur"} {"id": "HP_0005616", "parentIds": ["HP_0000924"], "name": "Accelerated skeletal maturation"} {"id": "HP_0005639", "parentIds": ["HP_0001382"], "name": "Hyperextensible hand joints"} -{"id": "HP_0005692", "parentIds": ["HP_0001382"], "name": "Joint hyperflexibility"} +{"id": "HP_0005656", "parentIds": ["HP_0001760"], "name": "Positional foot deformity"} {"id": "HP_0005709", "parentIds": ["HP_0001770"], "name": "2-3 toe cutaneous syndactyly"} {"id": "HP_0005750", "parentIds": ["HP_0003121"], "name": "Lower-limb joint contracture"} {"id": "HP_0005775", "parentIds": ["HP_0002652"], "name": "Multiple skeletal anomalies"} +{"id": "HP_0005781", "parentIds": ["HP_0001371"], "name": "Contractures of the large joints"} +{"id": "HP_0005832", "parentIds": ["HP_0002750"], "name": "Dysharmonic delayed bone age"} {"id": "HP_0005855", "parentIds": ["HP_0002659"], "name": "Multiple prenatal fractures"} -{"id": "HP_0005879", "parentIds": ["HP_0009810", "HP_0012385", "HP_0001167", "HP_0003121"], "name": "Congenital finger flexion contractures"} +{"id": "HP_0005879", "parentIds": ["HP_0012385", "HP_0009473", "HP_0001167"], "name": "Congenital finger flexion contractures"} {"id": "HP_0005881", "parentIds": ["HP_0000925"], "name": "Spinal instability"} +{"id": "HP_0005912", "parentIds": ["HP_0012440"], "name": "Biliary atresia"} +{"id": "HP_0005944", "parentIds": ["HP_0002088"], "name": "Bilateral lung agenesis"} +{"id": "HP_0005949", "parentIds": ["HP_0002104"], "name": "Apneic episodes in infancy"} {"id": "HP_0005957", "parentIds": ["HP_0002086"], "name": "Breathing dysregulation"} {"id": "HP_0005986", "parentIds": ["HP_0000464"], "name": "Limitation of neck motion"} {"id": "HP_0006000", "parentIds": ["HP_0000069"], "name": "Ureteral obstruction"} -{"id": "HP_0006101", "parentIds": ["Orphanet_404571", "Orphanet_183536", "HP_0011297"], "name": "Finger syndactyly"} +{"id": "HP_0006101", "parentIds": ["HP_0001159", "Orphanet_404571", "Orphanet_183536"], "name": "Finger syndactyly"} {"id": "HP_0006114", "parentIds": ["HP_0011121", "HP_0002817"], "name": "Multiple palmar creases"} {"id": "HP_0006118", "parentIds": ["HP_0009803"], "name": "Shortening of all distal phalanges of the fingers"} {"id": "HP_0006150", "parentIds": ["HP_0001167"], "name": "Swan neck-like deformities of the fingers"} -{"id": "HP_0006159", "parentIds": ["HP_0001167"], "name": "Mesoaxial hand polydactyly"} +{"id": "HP_0006159", "parentIds": ["HP_0010442", "HP_0001167"], "name": "Mesoaxial hand polydactyly"} {"id": "HP_0006165", "parentIds": ["HP_0001167"], "name": "Proportionate shortening of all digits"} +{"id": "HP_0006278", "parentIds": ["HP_0002012"], "name": "Ectopic pancreatic tissue"} {"id": "HP_0006315", "parentIds": ["HP_0000164"], "name": "Solitary median maxillary central incisor"} {"id": "HP_0006337", "parentIds": ["HP_0000164"], "name": "Premature eruption of permanent teeth"} +{"id": "HP_0006379", "parentIds": ["HP_0003026", "HP_0002814"], "name": "Proximal tibial hypoplasia"} +{"id": "HP_0006433", "parentIds": ["HP_0040070", "HP_0003330"], "name": "Radial dysplasia"} {"id": "HP_0006467", "parentIds": ["HP_0000924"], "name": "Limited shoulder movement"} -{"id": "HP_0006487", "parentIds": ["HP_0040064", "HP_0011842"], "name": "Bowing of the long bones"} +{"id": "HP_0006476", "parentIds": ["HP_0000818", "HP_0002012"], "name": "Abnormality of the pancreatic islet cells"} +{"id": "HP_0006482", "parentIds": ["HP_0000164"], "name": "Abnormal dental morphology"} +{"id": "HP_0006487", "parentIds": ["HP_0040064", "HP_0011314"], "name": "Bowing of the long bones"} {"id": "HP_0006515", "parentIds": ["HP_0006530"], "name": "Interstitial pneumonitis"} {"id": "HP_0006517", "parentIds": ["HP_0002088"], "name": "Intraalveolar phospholipid accumulation"} {"id": "HP_0006521", "parentIds": ["HP_0002088", "HP_0100763", "HP_0030680"], "name": "Pulmonary lymphangiectasia"} {"id": "HP_0006530", "parentIds": ["HP_0002088"], "name": "Abnormal pulmonary interstitial morphology"} {"id": "HP_0006536", "parentIds": ["HP_0002086"], "name": "Airway obstruction"} +{"id": "HP_0006538", "parentIds": ["HP_0002205"], "name": "Recurrent bronchopulmonary infections"} +{"id": "HP_0006548", "parentIds": ["HP_0002597", "HP_0030680", "HP_0002088"], "name": "Pulmonary arteriovenous malformation"} {"id": "HP_0006554", "parentIds": ["HP_0001399"], "name": "Acute hepatic failure"} {"id": "HP_0006571", "parentIds": ["HP_0012440"], "name": "Reduced number of intrahepatic bile ducts"} {"id": "HP_0006610", "parentIds": ["HP_0000769"], "name": "Wide intermamillary distance"} +{"id": "HP_0006625", "parentIds": ["HP_0000769"], "name": "Multifocal breast carcinoma"} {"id": "HP_0006677", "parentIds": ["HP_0003115"], "name": "Prolonged QRS complex"} +{"id": "HP_0006685", "parentIds": ["HP_0001627"], "name": "Endocardial fibrosis"} {"id": "HP_0006695", "parentIds": ["HP_0001671"], "name": "Atrioventricular canal defect"} -{"id": "HP_0006699", "parentIds": ["HP_0030956"], "name": "Premature atrial contractions"} +{"id": "HP_0006699", "parentIds": ["HP_0011675"], "name": "Premature atrial contractions"} {"id": "HP_0006767", "parentIds": ["HP_0000818", "HP_0012443"], "name": "Pituitary prolactin cell adenoma"} {"id": "HP_0006789", "parentIds": ["HP_0001298"], "name": "Mitochondrial encephalopathy"} {"id": "HP_0006829", "parentIds": ["HP_0001252"], "name": "Severe muscular hypotonia"} {"id": "HP_0006834", "parentIds": ["HP_0012759"], "name": "Developmental stagnation at onset of seizures"} -{"id": "HP_0006855", "parentIds": ["HP_0001272"], "name": "Cerebellar vermis atrophy"} +{"id": "HP_0006855", "parentIds": ["HP_0002334", "HP_0001272"], "name": "Cerebellar vermis atrophy"} {"id": "HP_0006872", "parentIds": ["HP_0012443"], "name": "Cerebral hypoplasia"} {"id": "HP_0006882", "parentIds": ["HP_0000238"], "name": "Severe hydrocephalus"} +{"id": "HP_0006889", "parentIds": ["HP_0001249"], "name": "Intellectual disability, borderline"} {"id": "HP_0006895", "parentIds": ["HP_0002509"], "name": "Lower limb hypertonia"} {"id": "HP_0006915", "parentIds": ["HP_0002540"], "name": "Inability to walk by childhood/adolescence"} {"id": "HP_0006919", "parentIds": ["HP_0100851"], "name": "Abnormal aggressive, impulsive or violent behavior"} +{"id": "HP_0006931", "parentIds": ["HP_0009124", "HP_0001273"], "name": "Pericallosal lipoma"} {"id": "HP_0006978", "parentIds": ["HP_0012447", "HP_0002011"], "name": "Dysmyelinating leukodystrophy"} {"id": "HP_0006986", "parentIds": ["HP_0001257"], "name": "Upper limb spasticity"} {"id": "HP_0007010", "parentIds": ["HP_0002275"], "name": "Poor fine motor coordination"} +{"id": "HP_0007023", "parentIds": ["HP_0100659", "HP_0011028", "HP_0001892"], "name": "Antenatal intracerebral hemorrhage"} {"id": "HP_0007034", "parentIds": ["HP_0001347"], "name": "Generalized hyperreflexia"} +{"id": "HP_0007069", "parentIds": ["HP_0001298"], "name": "Profound static encephalopathy"} {"id": "HP_0007083", "parentIds": ["HP_0002395"], "name": "Hyperactive patellar reflex"} +{"id": "HP_0007100", "parentIds": ["HP_0002119"], "name": "Progressive ventriculomegaly"} {"id": "HP_0007126", "parentIds": ["HP_0003202"], "name": "Proximal amyotrophy"} -{"id": "HP_0007141", "parentIds": ["HP_0012638"], "name": "Sensorimotor neuropathy"} +{"id": "HP_0007141", "parentIds": ["HP_0009830"], "name": "Sensorimotor neuropathy"} {"id": "HP_0007165", "parentIds": ["HP_0002282"], "name": "Periventricular heterotopia"} {"id": "HP_0007185", "parentIds": ["HP_0004372"], "name": "Loss of consciousness"} {"id": "HP_0007210", "parentIds": ["HP_0003202"], "name": "Lower limb amyotrophy"} {"id": "HP_0007236", "parentIds": ["HP_0012443"], "name": "Recurrent subcortical infarcts"} {"id": "HP_0007256", "parentIds": ["HP_0011442"], "name": "Abnormal pyramidal sign"} +{"id": "HP_0007263", "parentIds": ["HP_0001272"], "name": "Spinocerebellar atrophy"} {"id": "HP_0007305", "parentIds": ["HP_0002011", "HP_0012447"], "name": "CNS demyelination"} {"id": "HP_0007313", "parentIds": ["HP_0012444"], "name": "Cerebral degeneration"} {"id": "HP_0007328", "parentIds": ["HP_0003474"], "name": "Impaired pain sensation"} {"id": "HP_0007333", "parentIds": ["HP_0006872"], "name": "Hypoplasia of the frontal lobes"} {"id": "HP_0007340", "parentIds": ["HP_0003690"], "name": "Lower limb muscle weakness"} +{"id": "HP_0007354", "parentIds": ["HP_0007367"], "name": "Amyotrophic lateral sclerosis"} {"id": "HP_0007359", "parentIds": ["HP_0001250"], "name": "Focal-onset seizure"} {"id": "HP_0007360", "parentIds": ["HP_0012443"], "name": "Aplasia/Hypoplasia of the cerebellum"} {"id": "HP_0007366", "parentIds": ["HP_0012443", "HP_0007367"], "name": "Atrophy/Degeneration affecting the brainstem"} {"id": "HP_0007367", "parentIds": ["HP_0002011"], "name": "Atrophy/Degeneration affecting the central nervous system"} {"id": "HP_0007370", "parentIds": ["HP_0001273"], "name": "Aplasia/Hypoplasia of the corpus callosum"} -{"id": "HP_0007404", "parentIds": ["HP_0001760", "HP_0011368", "HP_0002817"], "name": "Nonepidermolytic palmoplantar hyperkeratosis"} +{"id": "HP_0007404", "parentIds": ["HP_0000972"], "name": "Nonepidermolytic palmoplantar hyperkeratosis"} +{"id": "HP_0007410", "parentIds": ["HP_0000975", "HP_0011121", "HP_0001760", "HP_0002817"], "name": "Palmoplantar hyperhidrosis"} +{"id": "HP_0007429", "parentIds": ["HP_0000957"], "name": "Few cafe-au-lait spots"} {"id": "HP_0007437", "parentIds": ["HP_0000951"], "name": "Multiple cutaneous leiomyomas"} {"id": "HP_0007446", "parentIds": ["HP_0008066", "HP_0002817", "HP_0001760"], "name": "Palmoplantar blistering"} +{"id": "HP_0007447", "parentIds": ["HP_0000972"], "name": "Diffuse palmoplantar hyperkeratosis"} {"id": "HP_0007455", "parentIds": ["HP_0011121"], "name": "Adermatoglyphia"} {"id": "HP_0007552", "parentIds": ["HP_0011121", "HP_0009124"], "name": "Abnormal subcutaneous fat tissue distribution"} {"id": "HP_0007559", "parentIds": ["HP_0011368"], "name": "Localized epidermolytic hyperkeratosis"} {"id": "HP_0007565", "parentIds": ["HP_0000957"], "name": "Multiple cafe-au-lait spots"} +{"id": "HP_0007620", "parentIds": ["HP_0000951"], "name": "Cutaneous leiomyoma"} {"id": "HP_0007633", "parentIds": ["HP_0000478"], "name": "Bilateral microphthalmos"} -{"id": "HP_0007648", "parentIds": ["HP_0000517"], "name": "Punctate cataract"} +{"id": "HP_0007648", "parentIds": ["HP_0000518"], "name": "Punctate cataract"} {"id": "HP_0007663", "parentIds": ["HP_0000505"], "name": "Reduced visual acuity"} {"id": "HP_0007676", "parentIds": ["HP_0007700"], "name": "Hypoplasia of the iris"} {"id": "HP_0007686", "parentIds": ["HP_0000478"], "name": "Abnormal pupillary function"} {"id": "HP_0007687", "parentIds": ["HP_0000478"], "name": "Unilateral ptosis"} -{"id": "HP_0007700", "parentIds": ["HP_0000478"], "name": "Ocular anterior segment dysgenesis"} +{"id": "HP_0007700", "parentIds": ["HP_0004328"], "name": "Ocular anterior segment dysgenesis"} +{"id": "HP_0007707", "parentIds": ["HP_0007700", "HP_0000517"], "name": "Congenital aphakia"} {"id": "HP_0007716", "parentIds": ["HP_0000478"], "name": "Uveal melanoma"} {"id": "HP_0007722", "parentIds": ["HP_0001105"], "name": "Retinal pigment epithelial atrophy"} -{"id": "HP_0007750", "parentIds": ["HP_0001103"], "name": "Hypoplasia of the fovea"} -{"id": "HP_0007754", "parentIds": ["HP_0001103"], "name": "Macular dystrophy"} +{"id": "HP_0007728", "parentIds": ["HP_0000616"], "name": "Congenital miosis"} +{"id": "HP_0007738", "parentIds": ["HP_0000478"], "name": "Uncontrolled eye movements"} +{"id": "HP_0007750", "parentIds": ["HP_0008059"], "name": "Hypoplasia of the fovea"} +{"id": "HP_0007754", "parentIds": ["HP_0001103", "HP_0000556"], "name": "Macular dystrophy"} +{"id": "HP_0007773", "parentIds": ["HP_0004329"], "name": "Vitreoretinopathy"} {"id": "HP_0007777", "parentIds": ["HP_0200065", "HP_0100699"], "name": "Chorioretinal scar"} {"id": "HP_0007780", "parentIds": ["HP_0007648"], "name": "Cortical pulverulent cataract"} +{"id": "HP_0007802", "parentIds": ["HP_0000481"], "name": "Granular corneal dystrophy"} {"id": "HP_0007803", "parentIds": ["HP_0000504"], "name": "Monochromacy"} {"id": "HP_0007830", "parentIds": ["HP_0000504"], "name": "Adult-onset night blindness"} +{"id": "HP_0007858", "parentIds": ["HP_0000610", "HP_0000479"], "name": "Chorioretinal lacunae"} {"id": "HP_0007924", "parentIds": ["HP_0000529"], "name": "Slow decrease in visual acuity"} +{"id": "HP_0007932", "parentIds": ["HP_0011499"], "name": "Bilateral congenital mydriasis"} {"id": "HP_0007936", "parentIds": ["HP_0000544"], "name": "Restrictive external ophthalmoplegia"} {"id": "HP_0007957", "parentIds": ["HP_0000481"], "name": "Corneal opacity"} {"id": "HP_0007968", "parentIds": ["HP_0004329"], "name": "Remnants of the hyaloid vascular system"} +{"id": "HP_0007992", "parentIds": ["HP_0000479"], "name": "Lattice retinal degeneration"} {"id": "HP_0007994", "parentIds": ["HP_0001123"], "name": "Peripheral visual field loss"} +{"id": "HP_0008041", "parentIds": ["HP_0007700"], "name": "Late onset congenital glaucoma"} +{"id": "HP_0008046", "parentIds": ["HP_0000479", "HP_0002597"], "name": "Abnormal retinal vascular morphology"} +{"id": "HP_0008059", "parentIds": ["HP_0001103"], "name": "Aplasia/Hypoplasia of the macula"} {"id": "HP_0008066", "parentIds": ["HP_0011121"], "name": "Abnormal blistering of the skin"} {"id": "HP_0008067", "parentIds": ["HP_0011121"], "name": "Abnormally lax or hyperextensible skin"} +{"id": "HP_0008070", "parentIds": ["HP_0001574"], "name": "Sparse hair"} {"id": "HP_0008081", "parentIds": ["HP_0001760"], "name": "Pes valgus"} {"id": "HP_0008110", "parentIds": ["HP_0001760"], "name": "Equinovarus deformity"} {"id": "HP_0008115", "parentIds": ["HP_0001863"], "name": "Clinodactyly of the 3rd toe"} +{"id": "HP_0008148", "parentIds": ["HP_0030402"], "name": "Impaired epinephrine-induced platelet aggregation"} {"id": "HP_0008158", "parentIds": ["HP_0003119"], "name": "Hyperapobetalipoproteinemia"} +{"id": "HP_0008169", "parentIds": ["HP_0001928"], "name": "Reduced factor VII activity"} {"id": "HP_0008209", "parentIds": ["HP_0000078"], "name": "Premature ovarian insufficiency"} +{"id": "HP_0008264", "parentIds": ["HP_0001881"], "name": "Neutrophil inclusion bodies"} +{"id": "HP_0008271", "parentIds": ["HP_0011842"], "name": "Abnormal cartilage collagen"} {"id": "HP_0008277", "parentIds": ["HP_0003111"], "name": "Abnormal blood zinc concentration"} +{"id": "HP_0008279", "parentIds": ["HP_0003077"], "name": "Transient hyperlipidemia"} {"id": "HP_0008316", "parentIds": ["HP_0011805", "HP_0003287"], "name": "Abnormal mitochondria in muscle tissue"} -{"id": "HP_0008348", "parentIds": ["HP_0011017", "HP_0001871", "HP_0002715"], "name": "Decreased circulating IgG2 level"} +{"id": "HP_0008320", "parentIds": ["HP_0030402"], "name": "Impaired collagen-induced platelet aggregation"} +{"id": "HP_0008321", "parentIds": ["HP_0001928"], "name": "Reduced factor X activity"} +{"id": "HP_0008348", "parentIds": ["HP_0004315"], "name": "Decreased circulating IgG2 level"} {"id": "HP_0008365", "parentIds": ["HP_0011842", "HP_0001760"], "name": "Abnormal talus morphology"} {"id": "HP_0008386", "parentIds": ["HP_0001597"], "name": "Aplasia/Hypoplasia of the nails"} {"id": "HP_0008388", "parentIds": ["HP_0001597"], "name": "Abnormal toenail morphology"} +{"id": "HP_0008398", "parentIds": ["HP_0008386"], "name": "Hypoplastic fifth fingernail"} {"id": "HP_0008404", "parentIds": ["HP_0001597"], "name": "Nail dystrophy"} -{"id": "HP_0008419", "parentIds": ["HP_0000925"], "name": "Intervertebral disc degeneration"} +{"id": "HP_0008419", "parentIds": ["HP_0000925"], "name": "Intervertebral disk degeneration"} +{"id": "HP_0008436", "parentIds": ["HP_0000925"], "name": "Absent/hypoplastic coccyx"} {"id": "HP_0008443", "parentIds": ["HP_0000925"], "name": "Neuropathic spinal arthropathy"} {"id": "HP_0008504", "parentIds": ["HP_0000407"], "name": "Moderate sensorineural hearing impairment"} {"id": "HP_0008513", "parentIds": ["HP_0000405"], "name": "Bilateral conductive hearing impairment"} {"id": "HP_0008527", "parentIds": ["HP_0000407"], "name": "Congenital sensorineural hearing impairment"} +{"id": "HP_0008573", "parentIds": ["HP_0000407"], "name": "Low-frequency sensorineural hearing impairment"} +{"id": "HP_0008589", "parentIds": ["HP_0000377"], "name": "Hypoplastic helices"} +{"id": "HP_0008598", "parentIds": ["HP_0000405"], "name": "Mild conductive hearing impairment"} {"id": "HP_0008625", "parentIds": ["HP_0000407"], "name": "Severe sensorineural hearing impairment"} +{"id": "HP_0008647", "parentIds": ["HP_0000818"], "name": "Pubertal developmental failure in females"} {"id": "HP_0008672", "parentIds": ["HP_0012210"], "name": "Calcium oxalate nephrolithiasis"} -{"id": "HP_0008734", "parentIds": ["HP_0000078"], "name": "Decreased testicular size"} +{"id": "HP_0008734", "parentIds": ["HP_0000035"], "name": "Decreased testicular size"} +{"id": "HP_0008751", "parentIds": ["HP_0025423"], "name": "Laryngeal cleft"} {"id": "HP_0008770", "parentIds": ["HP_0000708"], "name": "Obsessive-compulsive trait"} +{"id": "HP_0008774", "parentIds": ["HP_0000359"], "name": "Aplasia/Hypoplasia of the inner ear"} +{"id": "HP_0008807", "parentIds": ["HP_0001384"], "name": "Acetabular dysplasia"} {"id": "HP_0008846", "parentIds": ["HP_0001510"], "name": "Severe intrauterine growth retardation"} {"id": "HP_0008872", "parentIds": ["HP_0011968"], "name": "Feeding difficulties in infancy"} {"id": "HP_0008873", "parentIds": ["HP_0004322"], "name": "Disproportionate short-limb short stature"} +{"id": "HP_0008890", "parentIds": ["HP_0008873"], "name": "Severe short-limb dwarfism"} {"id": "HP_0008897", "parentIds": ["HP_0001510"], "name": "Postnatal growth retardation"} +{"id": "HP_0008905", "parentIds": ["HP_0008873", "HP_0009826"], "name": "Rhizomelia"} {"id": "HP_0008909", "parentIds": ["HP_0008873"], "name": "Lethal short-limbed short stature"} +{"id": "HP_0008922", "parentIds": ["HP_0003521"], "name": "Childhood-onset short-trunk short stature"} {"id": "HP_0008935", "parentIds": ["HP_0001319"], "name": "Generalized neonatal hypotonia"} {"id": "HP_0008936", "parentIds": ["HP_0001252"], "name": "Axial hypotonia"} {"id": "HP_0008942", "parentIds": ["EFO_0003867", "HP_0011805"], "name": "Acute rhabdomyolysis"} {"id": "HP_0008947", "parentIds": ["HP_0001252"], "name": "Infantile muscular hypotonia"} {"id": "HP_0008955", "parentIds": ["HP_0003202"], "name": "Progressive distal muscular atrophy"} {"id": "HP_0008956", "parentIds": ["HP_0007126", "HP_0002814"], "name": "Proximal lower limb amyotrophy"} -{"id": "HP_0008967", "parentIds": ["HP_0011804"], "name": "Exercise-induced muscle stiffness"} -{"id": "HP_0008970", "parentIds": ["HP_0011805"], "name": "Scapulohumeral muscular dystrophy"} +{"id": "HP_0008967", "parentIds": ["HP_0003552"], "name": "Exercise-induced muscle stiffness"} +{"id": "HP_0008970", "parentIds": ["HP_0003560"], "name": "Scapulohumeral muscular dystrophy"} {"id": "HP_0008981", "parentIds": ["HP_0030236", "HP_0002814"], "name": "Calf muscle hypertrophy"} {"id": "HP_0008994", "parentIds": ["HP_0003690"], "name": "Proximal muscle weakness in lower limbs"} {"id": "HP_0008997", "parentIds": ["HP_0003690", "HP_0002817"], "name": "Proximal muscle weakness in upper limbs"} @@ -1296,88 +1739,128 @@ {"id": "HP_0009049", "parentIds": ["HP_0002814", "HP_0003202"], "name": "Peroneal muscle atrophy"} {"id": "HP_0009053", "parentIds": ["HP_0007340", "HP_0002460", "HP_0002814"], "name": "Distal lower limb muscle weakness"} {"id": "HP_0009063", "parentIds": ["HP_0002460"], "name": "Progressive distal muscle weakness"} +{"id": "HP_0009064", "parentIds": ["HP_0009125"], "name": "Generalized lipodystrophy"} {"id": "HP_0009087", "parentIds": ["HP_0000157"], "name": "Posteriorly placed tongue"} {"id": "HP_0009088", "parentIds": ["HP_0011446"], "name": "Speech articulation difficulties"} {"id": "HP_0009124", "parentIds": ["HP_0003549"], "name": "Abnormal adipose tissue morphology"} +{"id": "HP_0009125", "parentIds": ["HP_0009124"], "name": "Lipodystrophy"} {"id": "HP_0009130", "parentIds": ["HP_0003202", "HP_0002817"], "name": "Hand muscle atrophy"} +{"id": "HP_0009237", "parentIds": ["HP_0001167"], "name": "Short 5th finger"} +{"id": "HP_0009473", "parentIds": ["HP_0009810", "HP_0003121"], "name": "Joint contracture of the hand"} {"id": "HP_0009487", "parentIds": ["HP_0002817"], "name": "Ulnar deviation of the hand"} {"id": "HP_0009588", "parentIds": ["HP_0000707", "HP_0000359"], "name": "Vestibular schwannoma"} {"id": "HP_0009601", "parentIds": ["HP_0001172"], "name": "Aplasia/Hypoplasia of the thumb"} {"id": "HP_0009623", "parentIds": ["HP_0001172"], "name": "Proximal placement of thumb"} -{"id": "HP_0009717", "parentIds": ["HP_0012443"], "name": "Cortical tubers"} +{"id": "HP_0009642", "parentIds": ["HP_0001172", "HP_0011314", "HP_0040070"], "name": "Broad distal phalanx of the thumb"} +{"id": "HP_0009711", "parentIds": ["HP_0002597", "HP_0000479", "HP_0002011", "HP_0000271", "HP_0010566"], "name": "Retinal capillary hemangioma"} +{"id": "HP_0009717", "parentIds": ["HP_0012443", "HP_0010566"], "name": "Cortical tubers"} {"id": "HP_0009720", "parentIds": ["HP_0000951", "HP_0000271"], "name": "Adenoma sebaceum"} {"id": "HP_0009722", "parentIds": ["HP_0000682"], "name": "Dental enamel pits"} -{"id": "HP_0009736", "parentIds": ["HP_0011842", "HP_0002814"], "name": "Tibial pseudarthrosis"} -{"id": "HP_0009737", "parentIds": ["HP_0000271", "HP_0000478"], "name": "Lisch nodules"} +{"id": "HP_0009736", "parentIds": ["HP_0011314", "HP_0002814"], "name": "Tibial pseudarthrosis"} +{"id": "HP_0009737", "parentIds": ["HP_0004328", "HP_0010566", "HP_0000271"], "name": "Lisch nodules"} +{"id": "HP_0009743", "parentIds": ["HP_0000499"], "name": "Distichiasis"} {"id": "HP_0009748", "parentIds": ["HP_0000363"], "name": "Large earlobe"} {"id": "HP_0009762", "parentIds": ["HP_0011121", "EFO_0004743"], "name": "Facial wrinkling"} -{"id": "HP_0009763", "parentIds": ["HP_0025142", "HP_0000924", "EFO_0003843"], "name": "Limb pain"} +{"id": "HP_0009763", "parentIds": ["HP_0012531", "HP_0000924", "EFO_0003843"], "name": "Limb pain"} {"id": "HP_0009778", "parentIds": ["HP_0009601"], "name": "Short thumb"} {"id": "HP_0009779", "parentIds": ["HP_0001770"], "name": "3-4 toe syndactyly"} -{"id": "HP_0009800", "parentIds": ["HP_0001952", "HP_0000818"], "name": "Maternal diabetes"} +{"id": "HP_0009800", "parentIds": ["HP_0000819"], "name": "Maternal diabetes"} {"id": "HP_0009803", "parentIds": ["HP_0001167"], "name": "Short phalanx of finger"} {"id": "HP_0009804", "parentIds": ["HP_0000164"], "name": "Tooth agenesis"} {"id": "HP_0009810", "parentIds": ["HP_0002817", "HP_0011842"], "name": "Abnormality of upper limb joint"} {"id": "HP_0009816", "parentIds": ["HP_0002814", "HP_0009826"], "name": "Lower limb undergrowth"} {"id": "HP_0009824", "parentIds": ["HP_0009826", "HP_0002817"], "name": "Upper limb undergrowth"} {"id": "HP_0009826", "parentIds": ["HP_0011842", "HP_0040064"], "name": "Limb undergrowth"} +{"id": "HP_0009827", "parentIds": ["HP_0040064", "HP_0011842"], "name": "Amelia"} +{"id": "HP_0009830", "parentIds": ["HP_0012638"], "name": "Peripheral neuropathy"} {"id": "HP_0009890", "parentIds": ["HP_0000271", "HP_0010720"], "name": "High anterior hairline"} +{"id": "HP_0009900", "parentIds": ["HP_0000365"], "name": "Unilateral deafness"} {"id": "HP_0009907", "parentIds": ["HP_0000363"], "name": "Attached earlobe"} {"id": "HP_0009908", "parentIds": ["HP_0000363"], "name": "Anterior creases of earlobe"} +{"id": "HP_0009917", "parentIds": ["HP_0004328"], "name": "Persistent pupillary membrane"} {"id": "HP_0009921", "parentIds": ["HP_0000486"], "name": "Duane anomaly"} {"id": "HP_0009926", "parentIds": ["HP_0000632"], "name": "Epiphora"} +{"id": "HP_0009927", "parentIds": ["HP_0000366"], "name": "Aplasia of the nose"} {"id": "HP_0009933", "parentIds": ["HP_0000366"], "name": "Narrow naris"} {"id": "HP_0009943", "parentIds": ["HP_0001172"], "name": "Complete duplication of thumb phalanx"} {"id": "HP_0009944", "parentIds": ["HP_0001172"], "name": "Partial duplication of thumb phalanx"} +{"id": "HP_0010047", "parentIds": ["HP_0010049"], "name": "Short 5th metacarpal"} {"id": "HP_0010049", "parentIds": ["HP_0040070", "HP_0003026"], "name": "Short metacarpal"} -{"id": "HP_0010059", "parentIds": ["HP_0001780"], "name": "Broad hallux phalanx"} +{"id": "HP_0010059", "parentIds": ["HP_0001780", "HP_0011314"], "name": "Broad hallux phalanx"} {"id": "HP_0010307", "parentIds": ["HP_0002086"], "name": "Stridor"} +{"id": "HP_0010311", "parentIds": ["HP_0000769"], "name": "Aplasia/Hypoplasia of the breasts"} {"id": "HP_0010313", "parentIds": ["HP_0000769"], "name": "Breast hypertrophy"} {"id": "HP_0010314", "parentIds": ["HP_0000818"], "name": "Premature thelarche"} +{"id": "HP_0010316", "parentIds": ["HP_0001702"], "name": "Ebstein anomaly of the tricuspid valve"} +{"id": "HP_0010371", "parentIds": ["HP_0001780"], "name": "Aplasia/Hypoplasia of the phalanges of the 4th toe"} {"id": "HP_0010438", "parentIds": ["HP_0001671"], "name": "Abnormal ventricular septum morphology"} +{"id": "HP_0010442", "parentIds": ["HP_0011297"], "name": "Polydactyly"} {"id": "HP_0010447", "parentIds": ["HP_0002242", "HP_0004378"], "name": "Anal fistula"} {"id": "HP_0010450", "parentIds": ["HP_0002031"], "name": "Esophageal stenosis"} +{"id": "HP_0010465", "parentIds": ["HP_0000818"], "name": "Precocious puberty in females"} {"id": "HP_0010473", "parentIds": ["HP_0003110"], "name": "Porphyrinuria"} {"id": "HP_0010508", "parentIds": ["HP_0011842", "HP_0001760"], "name": "Metatarsus valgus"} {"id": "HP_0010511", "parentIds": ["HP_0001780"], "name": "Long toe"} -{"id": "HP_0010515", "parentIds": ["HP_0000818", "HP_0100763"], "name": "Aplasia/Hypoplasia of the thymus"} -{"id": "HP_0010517", "parentIds": ["HP_0100763", "HP_0000818"], "name": "Ectopic thymus tissue"} -{"id": "HP_0010539", "parentIds": ["HP_0000929"], "name": "Thin calvarium"} +{"id": "HP_0010514", "parentIds": ["HP_0012443", "HP_0000818"], "name": "Hyperpituitarism"} +{"id": "HP_0010515", "parentIds": ["HP_0000777"], "name": "Aplasia/Hypoplasia of the thymus"} +{"id": "HP_0010517", "parentIds": ["HP_0000777"], "name": "Ectopic thymus tissue"} +{"id": "HP_0010524", "parentIds": ["HP_0011446"], "name": "Disturbed sensory perception"} +{"id": "HP_0010535", "parentIds": ["HP_0002360"], "name": "Sleep apnea"} +{"id": "HP_0010539", "parentIds": ["HP_0002683"], "name": "Thin calvarium"} +{"id": "HP_0010550", "parentIds": ["HP_0011442"], "name": "Paraplegia"} {"id": "HP_0010554", "parentIds": ["HP_0006101"], "name": "Cutaneous finger syndactyly"} +{"id": "HP_0010566", "parentIds": ["HP_0000118"], "name": "Hamartoma"} {"id": "HP_0010569", "parentIds": ["MONDO_0021187", "HP_0003119"], "name": "Elevated circulating 7-dehydrocholesterol concentration"} -{"id": "HP_0010577", "parentIds": ["HP_0011842"], "name": "Absent epiphyses"} +{"id": "HP_0010577", "parentIds": ["HP_0011314"], "name": "Absent epiphyses"} +{"id": "HP_0010606", "parentIds": ["HP_0000271", "HP_0011121"], "name": "Hordeolum"} {"id": "HP_0010609", "parentIds": ["HP_0011121"], "name": "Skin tags"} {"id": "HP_0010650", "parentIds": ["HP_0030791"], "name": "Hypoplasia of the premaxilla"} {"id": "HP_0010668", "parentIds": ["HP_0011821", "HP_0000271"], "name": "Abnormal zygomatic bone morphology"} -{"id": "HP_0010689", "parentIds": ["HP_0011297"], "name": "Mirror image polydactyly"} +{"id": "HP_0010689", "parentIds": ["HP_0010442"], "name": "Mirror image polydactyly"} {"id": "HP_0010705", "parentIds": ["HP_0006101"], "name": "4-5 finger syndactyly"} {"id": "HP_0010720", "parentIds": ["HP_0001574"], "name": "Abnormal hair pattern"} {"id": "HP_0010743", "parentIds": ["HP_0001760", "HP_0003026"], "name": "Short metatarsal"} -{"id": "HP_0010747", "parentIds": ["HP_0000271", "HP_0001574"], "name": "Medial flaring of the eyebrow"} +{"id": "HP_0010747", "parentIds": ["HP_0000534"], "name": "Medial flaring of the eyebrow"} {"id": "HP_0010750", "parentIds": ["HP_0000271"], "name": "Dermatochalasis"} {"id": "HP_0010752", "parentIds": ["HP_0010753"], "name": "Cleft mandible"} {"id": "HP_0010753", "parentIds": ["HP_0000277"], "name": "Midline defect of mandible"} +{"id": "HP_0010762", "parentIds": ["HP_0011842"], "name": "Chordoma"} {"id": "HP_0010769", "parentIds": ["HP_0000925"], "name": "Pilonidal sinus"} {"id": "HP_0010771", "parentIds": ["HP_0031292", "HP_0000925"], "name": "Pilonidal abscess"} +{"id": "HP_0010772", "parentIds": ["HP_0011718", "HP_0030680"], "name": "Anomalous pulmonary venous return"} {"id": "HP_0010783", "parentIds": ["HP_0011276"], "name": "Erythema"} +{"id": "HP_0010794", "parentIds": ["HP_0001328"], "name": "Impaired visuospatial constructive cognition"} {"id": "HP_0010804", "parentIds": ["HP_0000153"], "name": "Tented upper lip vermilion"} {"id": "HP_0010805", "parentIds": ["HP_0011338"], "name": "Upturned corners of mouth"} {"id": "HP_0010813", "parentIds": ["HP_0010720"], "name": "Abnormal number of hair whorls"} -{"id": "HP_0010841", "parentIds": ["HP_0002353"], "name": "Multifocal epileptiform discharges"} +{"id": "HP_0010819", "parentIds": ["HP_0001250"], "name": "Atonic seizure"} +{"id": "HP_0010841", "parentIds": ["HP_0011182"], "name": "Multifocal epileptiform discharges"} {"id": "HP_0010845", "parentIds": ["HP_0011203"], "name": "EEG with generalized slow activity"} +{"id": "HP_0010850", "parentIds": ["HP_0011198"], "name": "EEG with spike-wave complexes"} {"id": "HP_0010857", "parentIds": ["HP_0011198"], "name": "EEG with periodic abnormalities"} {"id": "HP_0010862", "parentIds": ["HP_0001270"], "name": "Delayed fine motor development"} {"id": "HP_0010863", "parentIds": ["HP_0000750"], "name": "Receptive language delay"} {"id": "HP_0010864", "parentIds": ["HP_0001249"], "name": "Intellectual disability, severe"} {"id": "HP_0010865", "parentIds": ["HP_0000708"], "name": "Oppositional defiant disorder"} {"id": "HP_0010881", "parentIds": ["HP_0001197"], "name": "Abnormality of the umbilical cord"} +{"id": "HP_0010884", "parentIds": ["HP_0040064", "HP_0011842"], "name": "Acromelia"} +{"id": "HP_0010885", "parentIds": ["HP_0000924"], "name": "Avascular necrosis"} {"id": "HP_0010886", "parentIds": ["HP_0040188"], "name": "Osteochondritis dissecans"} +{"id": "HP_0010894", "parentIds": ["HP_0004354"], "name": "Abnormal circulating serine family amino acid concentration"} +{"id": "HP_0010910", "parentIds": ["HP_0004354"], "name": "Hypervalinemia"} +{"id": "HP_0010911", "parentIds": ["HP_0004354"], "name": "Hyperleucinemia"} {"id": "HP_0010931", "parentIds": ["HP_0003111"], "name": "Abnormal blood sodium concentration"} +{"id": "HP_0010943", "parentIds": ["HP_0001197"], "name": "Echogenic fetal bowel"} {"id": "HP_0010944", "parentIds": ["HP_0012210"], "name": "Abnormal renal pelvis morphology"} +{"id": "HP_0010948", "parentIds": ["HP_0001197", "HP_0030680"], "name": "Abnormal fetal cardiovascular morphology"} {"id": "HP_0010956", "parentIds": ["HP_0000014"], "name": "Fetal megacystis"} {"id": "HP_0010970", "parentIds": ["HP_0001877"], "name": "Blood group antigen abnormality"} -{"id": "HP_0010972", "parentIds": ["EFO_0004272"], "name": "Anemia of inadequate production"} +{"id": "HP_0010972", "parentIds": ["EFO_0004272", "HP_0001903"], "name": "Anemia of inadequate production"} +{"id": "HP_0010976", "parentIds": ["HP_0001888"], "name": "B lymphocytopenia"} +{"id": "HP_0010980", "parentIds": ["HP_0003119"], "name": "Hyperlipoproteinemia"} {"id": "HP_0010992", "parentIds": ["HP_0000020"], "name": "Stress urinary incontinence"} +{"id": "HP_0011001", "parentIds": ["HP_0004348"], "name": "Increased bone mineral density"} +{"id": "HP_0011002", "parentIds": ["HP_0011001"], "name": "Osteopetrosis"} {"id": "HP_0011013", "parentIds": ["HP_0001939"], "name": "Abnormal circulating carbohydrate concentration"} {"id": "HP_0011014", "parentIds": ["HP_0001939"], "name": "Abnormal glucose homeostasis"} {"id": "HP_0011015", "parentIds": ["HP_0011014"], "name": "Abnormal blood glucose concentration"} @@ -1388,30 +1871,41 @@ {"id": "HP_0011031", "parentIds": ["HP_0003111"], "name": "Abnormality of iron homeostasis"} {"id": "HP_0011035", "parentIds": ["HP_0012210"], "name": "Abnormal renal cortex morphology"} {"id": "HP_0011037", "parentIds": ["HP_0012590"], "name": "Decreased urine output"} +{"id": "HP_0011043", "parentIds": ["HP_0003117"], "name": "Abnormal circulating adrenocorticotropin concentration"} {"id": "HP_0011079", "parentIds": ["HP_0000164"], "name": "Impacted tooth"} -{"id": "HP_0011090", "parentIds": ["HP_0000164"], "name": "Fused teeth"} +{"id": "HP_0011090", "parentIds": ["HP_0006482"], "name": "Fused teeth"} {"id": "HP_0011094", "parentIds": ["HP_0000164"], "name": "Increased overbite"} {"id": "HP_0011096", "parentIds": ["HP_0012447"], "name": "Peripheral demyelination"} {"id": "HP_0011097", "parentIds": ["HP_0001250"], "name": "Epileptic spasm"} {"id": "HP_0011098", "parentIds": ["HP_0011442"], "name": "Speech apraxia"} +{"id": "HP_0011099", "parentIds": ["HP_0001257", "HP_0100022", "HP_0001269"], "name": "Spastic hemiparesis"} {"id": "HP_0011105", "parentIds": ["HP_0011028"], "name": "Hypervolemia"} {"id": "HP_0011106", "parentIds": ["HP_0011028"], "name": "Hypovolemia"} {"id": "HP_0011107", "parentIds": ["HP_0012649", "HP_0000153"], "name": "Recurrent aphthous stomatitis"} -{"id": "HP_0011110", "parentIds": ["HP_0002719", "HP_0100763"], "name": "Recurrent tonsillitis"} +{"id": "HP_0011108", "parentIds": ["HP_0002788", "HP_0011821", "HP_0012649"], "name": "Recurrent sinusitis"} +{"id": "HP_0011110", "parentIds": ["HP_0002719", "HP_0100765"], "name": "Recurrent tonsillitis"} {"id": "HP_0011120", "parentIds": ["HP_0000366"], "name": "Concave nasal ridge"} {"id": "HP_0011121", "parentIds": ["HP_0000951"], "name": "Abnormal skin morphology"} -{"id": "HP_0011123", "parentIds": ["HP_0012649", "HP_0000951"], "name": "Inflammatory abnormality of the skin"} -{"id": "HP_0011141", "parentIds": ["HP_0000517"], "name": "Age-related cataract"} +{"id": "HP_0011122", "parentIds": ["HP_0000951"], "name": "Abnormality of skin physiology"} +{"id": "HP_0011123", "parentIds": ["HP_0012649", "HP_0011122"], "name": "Inflammatory abnormality of the skin"} +{"id": "HP_0011141", "parentIds": ["HP_0000518"], "name": "Age-related cataract"} {"id": "HP_0011142", "parentIds": ["HP_0011141"], "name": "Age-related nuclear cataract"} {"id": "HP_0011147", "parentIds": ["HP_0002121"], "name": "Typical absence seizure"} -{"id": "HP_0011198", "parentIds": ["HP_0002353"], "name": "EEG with generalized epileptiform discharges"} +{"id": "HP_0011152", "parentIds": ["HP_0011147"], "name": "Early onset absence seizures"} +{"id": "HP_0011170", "parentIds": ["HP_0001250"], "name": "Generalized myoclonic-atonic seizure"} +{"id": "HP_0011182", "parentIds": ["HP_0002353"], "name": "Interictal epileptiform activity"} +{"id": "HP_0011198", "parentIds": ["HP_0011182"], "name": "EEG with generalized epileptiform discharges"} {"id": "HP_0011203", "parentIds": ["HP_0002353"], "name": "EEG with abnormally slow frequencies"} {"id": "HP_0011220", "parentIds": ["HP_0000271"], "name": "Prominent forehead"} {"id": "HP_0011227", "parentIds": ["HP_0001939"], "name": "Elevated circulating C-reactive protein concentration"} +{"id": "HP_0011229", "parentIds": ["HP_0000534"], "name": "Broad eyebrow"} {"id": "HP_0011276", "parentIds": ["HP_0011121", "HP_0002597"], "name": "Vascular skin abnormality"} {"id": "HP_0011277", "parentIds": ["HP_0000079"], "name": "Abnormality of the urinary system physiology"} {"id": "HP_0011297", "parentIds": ["HP_0011842", "HP_0040064"], "name": "Abnormal digit morphology"} +{"id": "HP_0011298", "parentIds": ["HP_0011121"], "name": "Prominent digit pad"} {"id": "HP_0011311", "parentIds": ["HP_0002817", "HP_0011121"], "name": "Sydney crease"} +{"id": "HP_0011314", "parentIds": ["HP_0011842"], "name": "Abnormal long bone morphology"} +{"id": "HP_0011337", "parentIds": ["HP_0000153"], "name": "Abnormality of mouth size"} {"id": "HP_0011338", "parentIds": ["HP_0000153"], "name": "Abnormality of mouth shape"} {"id": "HP_0011341", "parentIds": ["HP_0000153"], "name": "Long upper lip"} {"id": "HP_0011342", "parentIds": ["HP_0001263"], "name": "Mild global developmental delay"} @@ -1426,52 +1920,67 @@ {"id": "HP_0011446", "parentIds": ["HP_0012638"], "name": "Abnormality of mental function"} {"id": "HP_0011451", "parentIds": ["HP_0000252"], "name": "Primary microcephaly"} {"id": "HP_0011458", "parentIds": ["HP_0025031"], "name": "Abdominal symptom"} +{"id": "HP_0011463", "parentIds": ["HP_0410280"], "name": "Childhood onset"} {"id": "HP_0011471", "parentIds": ["HP_0033454", "HP_0008872"], "name": "Gastrostomy tube feeding in infancy"} {"id": "HP_0011474", "parentIds": ["HP_0000407"], "name": "Childhood onset sensorineural hearing impairment"} {"id": "HP_0011476", "parentIds": ["HP_0000407"], "name": "Profound sensorineural hearing impairment"} +{"id": "HP_0011483", "parentIds": ["HP_0004328"], "name": "Anterior synechiae of the anterior chamber"} +{"id": "HP_0011494", "parentIds": ["HP_0007957"], "name": "Generalized opacification of the cornea"} {"id": "HP_0011499", "parentIds": ["HP_0007686"], "name": "Mydriasis"} {"id": "HP_0011504", "parentIds": ["HP_0001103"], "name": "Bull's eye maculopathy"} {"id": "HP_0011555", "parentIds": ["HP_0001627"], "name": "Double inlet left ventricle"} -{"id": "HP_0011565", "parentIds": ["HP_0001627"], "name": "Common atrium"} +{"id": "HP_0011565", "parentIds": ["HP_0005120"], "name": "Common atrium"} +{"id": "HP_0011590", "parentIds": ["HP_0001679"], "name": "Double aortic arch"} {"id": "HP_0011611", "parentIds": ["HP_0001679"], "name": "Interrupted aortic arch"} +{"id": "HP_0011626", "parentIds": ["HP_0010772"], "name": "Scimitar anomaly"} {"id": "HP_0011659", "parentIds": ["HP_0001636"], "name": "Tetralogy of Fallot with absent pulmonary valve"} +{"id": "HP_0011675", "parentIds": ["HP_0030956"], "name": "Arrhythmia"} {"id": "HP_0011705", "parentIds": ["HP_0030956"], "name": "First degree atrioventricular block"} {"id": "HP_0011706", "parentIds": ["HP_0030956"], "name": "Second degree atrioventricular block"} {"id": "HP_0011712", "parentIds": ["HP_0030956"], "name": "Right bundle branch block"} {"id": "HP_0011713", "parentIds": ["HP_0030956"], "name": "Left bundle branch block"} -{"id": "HP_0011736", "parentIds": ["HP_0000834"], "name": "Primary hyperaldosteronism"} +{"id": "HP_0011718", "parentIds": ["HP_0002597", "HP_0002088"], "name": "Abnormality of the pulmonary veins"} +{"id": "HP_0011736", "parentIds": ["HP_0002717"], "name": "Primary hyperaldosteronism"} {"id": "HP_0011800", "parentIds": ["HP_0000271"], "name": "Midface retrusion"} {"id": "HP_0011804", "parentIds": ["HP_0003011"], "name": "Abnormal muscle physiology"} {"id": "HP_0011805", "parentIds": ["HP_0003011"], "name": "Abnormal skeletal muscle morphology"} {"id": "HP_0011808", "parentIds": ["HP_0002814", "HP_0001265"], "name": "Decreased patellar reflex"} {"id": "HP_0011821", "parentIds": ["HP_0000929"], "name": "Abnormal facial skeleton morphology"} +{"id": "HP_0011823", "parentIds": ["HP_0000271"], "name": "Chin with horizontal crease"} {"id": "HP_0011840", "parentIds": ["HP_0002715", "HP_0011017", "HP_0001871"], "name": "Abnormality of T cell physiology"} {"id": "HP_0011841", "parentIds": ["HP_0001649"], "name": "Ventricular flutter"} {"id": "HP_0011842", "parentIds": ["HP_0000924"], "name": "Abnormal skeletal morphology"} {"id": "HP_0011848", "parentIds": ["HP_0002027"], "name": "Abdominal colic"} {"id": "HP_0011868", "parentIds": ["HP_0003418"], "name": "Sciatica"} +{"id": "HP_0011870", "parentIds": ["HP_0030402"], "name": "Impaired arachidonic acid-induced platelet aggregation"} +{"id": "HP_0011872", "parentIds": ["HP_0030402"], "name": "Impaired thrombin-induced platelet aggregation"} {"id": "HP_0011886", "parentIds": ["HP_0000478", "HP_0001892", "HP_0011028"], "name": "Hyphema"} {"id": "HP_0011900", "parentIds": ["HP_0001928"], "name": "Hypofibrinogenemia"} {"id": "HP_0011902", "parentIds": ["HP_0001877"], "name": "Abnormal hemoglobin"} {"id": "HP_0011904", "parentIds": ["HP_0011902"], "name": "Persistence of hemoglobin F"} {"id": "HP_0011906", "parentIds": ["HP_0011902"], "name": "Reduced beta/alpha synthesis ratio"} -{"id": "HP_0011913", "parentIds": ["HP_0001574"], "name": "Lumbar hypertrichosis"} +{"id": "HP_0011913", "parentIds": ["HP_0000998"], "name": "Lumbar hypertrichosis"} {"id": "HP_0011918", "parentIds": ["HP_0001863"], "name": "Clinodactyly of the 4th toe"} {"id": "HP_0011923", "parentIds": ["HP_0003287"], "name": "Decreased activity of mitochondrial complex I"} {"id": "HP_0011924", "parentIds": ["HP_0003287"], "name": "Decreased activity of mitochondrial complex III"} {"id": "HP_0011950", "parentIds": ["HP_0002205"], "name": "Bronchiolitis"} {"id": "HP_0011968", "parentIds": ["HP_0011458"], "name": "Feeding difficulties"} {"id": "HP_0011974", "parentIds": ["HP_0001871"], "name": "Myelofibrosis"} +{"id": "HP_0011995", "parentIds": ["HP_0001671"], "name": "Atrial septal dilatation"} {"id": "HP_0011999", "parentIds": ["HP_0011446"], "name": "Paranoia"} -{"id": "HP_0012042", "parentIds": ["HP_0002715", "HP_0002086"], "name": "Aspirin-induced asthma"} +{"id": "HP_0012018", "parentIds": ["HP_0011182"], "name": "EEG with temporal focal spikes"} +{"id": "HP_0012042", "parentIds": ["HP_0002099"], "name": "Aspirin-induced asthma"} +{"id": "HP_0012052", "parentIds": ["HP_0100508"], "name": "Low serum calcitriol"} {"id": "HP_0012075", "parentIds": ["HP_0000708"], "name": "Personality disorder"} {"id": "HP_0012076", "parentIds": ["HP_0012075"], "name": "Borderline personality disorder"} {"id": "HP_0012086", "parentIds": ["HP_0003110"], "name": "Abnormal urinary color"} -{"id": "HP_0012098", "parentIds": ["HP_0002814", "HP_0001939"], "name": "Edema of the dorsum of feet"} +{"id": "HP_0012098", "parentIds": ["HP_0002814", "HP_0000969"], "name": "Edema of the dorsum of feet"} {"id": "HP_0012103", "parentIds": ["HP_0011017"], "name": "Abnormality of the mitochondrion"} {"id": "HP_0012115", "parentIds": ["HP_0001392", "HP_0012649"], "name": "Hepatitis"} {"id": "HP_0012167", "parentIds": ["HP_0100716"], "name": "Hair-pulling"} -{"id": "HP_0012194", "parentIds": ["HP_0011442"], "name": "Episodic hemiplegia"} +{"id": "HP_0012169", "parentIds": ["HP_0100716"], "name": "Self-biting"} +{"id": "HP_0012187", "parentIds": ["HP_0001939"], "name": "Increased erythrocyte protoporphyrin concentration"} +{"id": "HP_0012194", "parentIds": ["HP_0004374"], "name": "Episodic hemiplegia"} {"id": "HP_0012199", "parentIds": ["HP_0002315"], "name": "Cluster headache"} {"id": "HP_0012205", "parentIds": ["HP_0012864"], "name": "Globozoospermia"} {"id": "HP_0012207", "parentIds": ["HP_0000078"], "name": "Reduced sperm motility"} @@ -1483,15 +1992,20 @@ {"id": "HP_0012232", "parentIds": ["HP_0003115"], "name": "Shortened QT interval"} {"id": "HP_0012234", "parentIds": ["HP_0001913"], "name": "Agranulocytosis"} {"id": "HP_0012235", "parentIds": ["HP_0012234"], "name": "Drug-induced agranulocytosis"} +{"id": "HP_0012244", "parentIds": ["HP_0000078"], "name": "Abnormal sex determination"} {"id": "HP_0012248", "parentIds": ["HP_0003115"], "name": "Prolonged PR interval"} {"id": "HP_0012255", "parentIds": ["HP_0002086"], "name": "Dynein arm defect of respiratory motile cilia"} {"id": "HP_0012259", "parentIds": ["HP_0012255"], "name": "Absent inner and outer dynein arms"} {"id": "HP_0012262", "parentIds": ["HP_0002086"], "name": "Abnormal ciliary motility"} {"id": "HP_0012276", "parentIds": ["HP_0011842"], "name": "Digital flexor tenosynovitis"} -{"id": "HP_0012278", "parentIds": ["HP_0004354"], "name": "Abnormal circulating serine concentration"} +{"id": "HP_0012278", "parentIds": ["HP_0010894"], "name": "Abnormal circulating serine concentration"} +{"id": "HP_0012294", "parentIds": ["HP_0002683"], "name": "Abnormal occipital bone morphology"} {"id": "HP_0012304", "parentIds": ["HP_0001679"], "name": "Hypoplastic aortic arch"} -{"id": "HP_0012317", "parentIds": ["HP_0000925"], "name": "Sacroiliac arthritis"} +{"id": "HP_0012317", "parentIds": ["HP_0000925", "HP_0001369"], "name": "Sacroiliac arthritis"} +{"id": "HP_0012323", "parentIds": ["HP_0001336"], "name": "Sleep myoclonus"} +{"id": "HP_0012328", "parentIds": ["HP_0000164", "HP_0025031"], "name": "Cementoma"} {"id": "HP_0012332", "parentIds": ["HP_0000707"], "name": "Abnormal autonomic nervous system physiology"} +{"id": "HP_0012358", "parentIds": ["HP_0001939"], "name": "Abnormal protein O-linked glycosylation"} {"id": "HP_0012364", "parentIds": ["HP_0012598"], "name": "Decreased urinary potassium"} {"id": "HP_0012378", "parentIds": ["HP_0025142", "EFO_0003765"], "name": "Fatigue"} {"id": "HP_0012382", "parentIds": ["HP_0001693"], "name": "Left-to-right shunt"} @@ -1499,9 +2013,13 @@ {"id": "HP_0012388", "parentIds": ["HP_0002088"], "name": "Acute bronchitis"} {"id": "HP_0012389", "parentIds": ["HP_0001252"], "name": "Appendicular hypotonia"} {"id": "HP_0012390", "parentIds": ["HP_0004378"], "name": "Anal fissure"} +{"id": "HP_0012393", "parentIds": ["HP_0002715"], "name": "Allergy"} {"id": "HP_0012410", "parentIds": ["HP_0001877"], "name": "Pure red cell aplasia"} +{"id": "HP_0012418", "parentIds": ["HP_0002086"], "name": "Hypoxemia"} {"id": "HP_0012424", "parentIds": ["HP_0000479", "HP_0000610"], "name": "Chorioretinitis"} +{"id": "HP_0012426", "parentIds": ["HP_0000479"], "name": "Optic disc drusen"} {"id": "HP_0012430", "parentIds": ["HP_0002500"], "name": "Cerebral white matter hypoplasia"} +{"id": "HP_0012434", "parentIds": ["HP_0012758", "HP_0000708"], "name": "Delayed early-childhood social milestone development"} {"id": "HP_0012438", "parentIds": ["HP_0001392"], "name": "Abnormal gallbladder physiology"} {"id": "HP_0012440", "parentIds": ["HP_0001392"], "name": "Abnormal biliary tract morphology"} {"id": "HP_0012443", "parentIds": ["HP_0002011"], "name": "Abnormal brain morphology"} @@ -1511,9 +2029,11 @@ {"id": "HP_0012450", "parentIds": ["HP_0002019"], "name": "Chronic constipation"} {"id": "HP_0012470", "parentIds": ["HP_0000478"], "name": "Setting-sun eye phenomenon"} {"id": "HP_0012471", "parentIds": ["HP_0000153"], "name": "Thick vermilion border"} +{"id": "HP_0012499", "parentIds": ["HP_0002647"], "name": "Descending aortic dissection"} {"id": "HP_0012514", "parentIds": ["HP_0009763"], "name": "Lower limb pain"} {"id": "HP_0012520", "parentIds": ["HP_0100659"], "name": "Dilation of Virchow-Robin spaces"} -{"id": "HP_0012532", "parentIds": ["EFO_0003843", "HP_0025142"], "name": "Chronic pain"} +{"id": "HP_0012531", "parentIds": ["HP_0025142"], "name": "Pain"} +{"id": "HP_0012532", "parentIds": ["HP_0012531", "EFO_0003843"], "name": "Chronic pain"} {"id": "HP_0012587", "parentIds": ["HP_0000790"], "name": "Macroscopic hematuria"} {"id": "HP_0012590", "parentIds": ["HP_0012211"], "name": "Abnormal urine output"} {"id": "HP_0012594", "parentIds": ["EFO_0004285"], "name": "Moderate albuminuria"} @@ -1522,9 +2042,11 @@ {"id": "HP_0012603", "parentIds": ["HP_0003110"], "name": "Abnormal urine sodium concentration"} {"id": "HP_0012614", "parentIds": ["HP_0003110"], "name": "Abnormal urine cytology"} {"id": "HP_0012638", "parentIds": ["HP_0000707"], "name": "Abnormal nervous system physiology"} +{"id": "HP_0012646", "parentIds": ["HP_0000035"], "name": "Retractile testis"} {"id": "HP_0012647", "parentIds": ["HP_0002715"], "name": "Abnormal inflammatory response"} {"id": "HP_0012649", "parentIds": ["HP_0012647"], "name": "Increased inflammatory response"} {"id": "HP_0012664", "parentIds": ["HP_0011025"], "name": "Reduced left ventricular ejection fraction"} +{"id": "HP_0012668", "parentIds": ["HP_0001279"], "name": "Vasovagal syncope"} {"id": "HP_0012675", "parentIds": ["HP_0012443"], "name": "Iron accumulation in brain"} {"id": "HP_0012704", "parentIds": ["HP_0002011"], "name": "Widened subarachnoid space"} {"id": "HP_0012718", "parentIds": ["HP_0011024"], "name": "Abnormal gastrointestinal tract morphology"} @@ -1534,99 +2056,140 @@ {"id": "HP_0012745", "parentIds": ["HP_0000271"], "name": "Short palpebral fissure"} {"id": "HP_0012758", "parentIds": ["HP_0012759"], "name": "Neurodevelopmental delay"} {"id": "HP_0012759", "parentIds": ["HP_0012638"], "name": "Neurodevelopmental abnormality"} +{"id": "HP_0012760", "parentIds": ["HP_0000708"], "name": "Reduced social reciprocity"} {"id": "HP_0012762", "parentIds": ["HP_0002500"], "name": "Cerebral white matter atrophy"} {"id": "HP_0012803", "parentIds": ["HP_0000539"], "name": "Anisometropia"} +{"id": "HP_0012809", "parentIds": ["HP_0000366"], "name": "Narrow nasal base"} +{"id": "HP_0012810", "parentIds": ["HP_0000366"], "name": "Wide nasal base"} +{"id": "HP_0012856", "parentIds": ["HP_0000078"], "name": "Abnormal scrotal rugation"} {"id": "HP_0012864", "parentIds": ["HP_0000078"], "name": "Abnormal sperm morphology"} {"id": "HP_0012868", "parentIds": ["HP_0012864"], "name": "Abnormal sperm tail morphology"} {"id": "HP_0012873", "parentIds": ["HP_0000022"], "name": "Absent vas deferens"} {"id": "HP_0012876", "parentIds": ["HP_0000078"], "name": "Premature ejaculation"} {"id": "HP_0012877", "parentIds": ["HP_0000078"], "name": "Retrograde ejaculation"} -{"id": "HP_0012899", "parentIds": ["HP_0011804"], "name": "Handgrip myotonia"} +{"id": "HP_0012899", "parentIds": ["HP_0002486"], "name": "Handgrip myotonia"} {"id": "HP_0020046", "parentIds": ["EFO_0003966", "HP_0000565"], "name": "Accommodative esotropia"} {"id": "HP_0020083", "parentIds": ["HP_0011123"], "name": "Furuncle"} {"id": "HP_0020174", "parentIds": ["HP_0001939"], "name": "Refractory drug response"} {"id": "HP_0025004", "parentIds": ["HP_0001780"], "name": "Hallux rigidus"} {"id": "HP_0025031", "parentIds": ["HP_0000118"], "name": "Abnormality of the digestive system"} +{"id": "HP_0025069", "parentIds": ["HP_0000486"], "name": "Concomitant strabismus"} +{"id": "HP_0025085", "parentIds": ["HP_0002014"], "name": "Bloody diarrhea"} {"id": "HP_0025095", "parentIds": ["HP_0025142"], "name": "Sneeze"} {"id": "HP_0025116", "parentIds": ["HP_0001197"], "name": "Fetal distress"} +{"id": "HP_0025132", "parentIds": ["HP_0003117"], "name": "Abnormal circulating estrogen level"} {"id": "HP_0025142", "parentIds": ["HP_0000118"], "name": "Constitutional symptom"} +{"id": "HP_0025161", "parentIds": ["HP_0000708"], "name": "Frequent temper tantrums"} +{"id": "HP_0025163", "parentIds": ["HP_0004329"], "name": "Abnormal optic chiasm morphology"} {"id": "HP_0025200", "parentIds": ["HP_0011805"], "name": "Muscle fiber actin filament accumulation"} -{"id": "HP_0025234", "parentIds": ["HP_0011446"], "name": "Parasomnia"} +{"id": "HP_0025234", "parentIds": ["HP_0002360"], "name": "Parasomnia"} {"id": "HP_0025236", "parentIds": ["HP_0025234"], "name": "Somnambulism"} {"id": "HP_0025246", "parentIds": ["HP_0011121"], "name": "Trichilemmal cyst"} {"id": "HP_0025258", "parentIds": ["HP_0001387", "HP_0005986"], "name": "Stiff neck"} -{"id": "HP_0025267", "parentIds": ["HP_0011446"], "name": "Snoring"} +{"id": "HP_0025267", "parentIds": ["HP_0002360"], "name": "Snoring"} {"id": "HP_0025268", "parentIds": ["HP_0002167"], "name": "Stuttering"} {"id": "HP_0025270", "parentIds": ["HP_0012719"], "name": "Abnormal esophagus physiology"} +{"id": "HP_0025278", "parentIds": ["HP_0001574"], "name": "Cold-induced sweating"} {"id": "HP_0025324", "parentIds": ["HP_0011025", "HP_0002597"], "name": "Arterial occlusion"} {"id": "HP_0025328", "parentIds": ["MP_0001914", "HP_0001892", "HP_0011028"], "name": "Antepartum hemorrhage"} +{"id": "HP_0025335", "parentIds": ["HP_0002194"], "name": "Delayed ability to stand"} {"id": "HP_0025354", "parentIds": ["HP_0000118"], "name": "Abnormal cellular phenotype"} {"id": "HP_0025382", "parentIds": ["HP_0030082"], "name": "Hypodipsia"} {"id": "HP_0025423", "parentIds": ["HP_0001600"], "name": "Abnormal larynx morphology"} {"id": "HP_0025425", "parentIds": ["HP_0001600"], "name": "Laryngospasm"} -{"id": "HP_0025428", "parentIds": ["HP_0002086"], "name": "Bronchospasm"} +{"id": "HP_0025501", "parentIds": ["HP_0001513"], "name": "Class III obesity"} {"id": "HP_0025517", "parentIds": ["HP_0012443"], "name": "Hypoplastic hippocampus"} {"id": "HP_0025534", "parentIds": ["HP_0000478"], "name": "Ocular melanocytosis"} {"id": "HP_0025700", "parentIds": ["HP_0001560"], "name": "Anhydramnios"} {"id": "HP_0030016", "parentIds": ["HP_0000078"], "name": "Dyspareunia"} +{"id": "HP_0030050", "parentIds": ["HP_0002329", "HP_0002360"], "name": "Narcolepsy"} {"id": "HP_0030051", "parentIds": ["HP_0001288"], "name": "Tip-toe gait"} -{"id": "HP_0030052", "parentIds": ["EFO_0003963", "HP_0011121"], "name": "Inguinal freckling"} +{"id": "HP_0030052", "parentIds": ["EFO_0003963", "HP_0001480"], "name": "Inguinal freckling"} +{"id": "HP_0030055", "parentIds": ["HP_0002164"], "name": "Hyperconvex toenail"} {"id": "HP_0030082", "parentIds": ["HP_0000708"], "name": "Abnormal drinking behavior"} {"id": "HP_0030084", "parentIds": ["HP_0011297"], "name": "Clinodactyly"} {"id": "HP_0030096", "parentIds": ["HP_0011805"], "name": "Abnormal muscle fiber dystrophin expression"} {"id": "HP_0030114", "parentIds": ["HP_0011805"], "name": "Absent muscle fiber dysferlin"} {"id": "HP_0030148", "parentIds": ["HP_0011025"], "name": "Heart murmur"} {"id": "HP_0030151", "parentIds": ["HP_0012440", "HP_0012649"], "name": "Cholangitis"} -{"id": "HP_0030157", "parentIds": ["HP_0025142"], "name": "Flank pain"} +{"id": "HP_0030157", "parentIds": ["HP_0012531"], "name": "Flank pain"} {"id": "HP_0030158", "parentIds": ["HP_0000130"], "name": "Cervical ectropion"} +{"id": "HP_0030159", "parentIds": ["HP_0000130"], "name": "Cervical polyp"} {"id": "HP_0030160", "parentIds": ["HP_0000130"], "name": "Cervicitis"} +{"id": "HP_0030186", "parentIds": ["HP_0001337"], "name": "Kinetic tremor"} {"id": "HP_0030190", "parentIds": ["HP_0001252"], "name": "Oral motor hypotonia"} +{"id": "HP_0030195", "parentIds": ["HP_0003473"], "name": "Fatigable weakness of swallowing muscles"} {"id": "HP_0030211", "parentIds": ["HP_0007686"], "name": "Slow pupillary light response"} +{"id": "HP_0030222", "parentIds": ["HP_0010524"], "name": "Visual agnosia"} +{"id": "HP_0030230", "parentIds": ["HP_0011805"], "name": "Central core regions in muscle fibers"} +{"id": "HP_0030234", "parentIds": ["HP_0003236"], "name": "Highly elevated creatine kinase"} {"id": "HP_0030236", "parentIds": ["HP_0011805"], "name": "Abnormality of muscle size"} +{"id": "HP_0030241", "parentIds": ["HP_0030236", "HP_0002817"], "name": "Hypoplasia of deltoid muscle"} {"id": "HP_0030242", "parentIds": ["HP_0001392", "HP_0002597", "HP_0004936"], "name": "Portal vein thrombosis"} {"id": "HP_0030303", "parentIds": ["HP_0002500"], "name": "Hypoplastic anterior commissure"} +{"id": "HP_0030350", "parentIds": ["HP_0011121"], "name": "Erythematous papule"} {"id": "HP_0030369", "parentIds": ["HP_0001787"], "name": "Induced vaginal delivery"} {"id": "HP_0030402", "parentIds": ["HP_0001871"], "name": "Abnormal platelet aggregation"} {"id": "HP_0030436", "parentIds": ["HP_0000951"], "name": "Fibrofolliculoma"} {"id": "HP_0030680", "parentIds": ["HP_0001626"], "name": "Abnormal cardiovascular system morphology"} +{"id": "HP_0030682", "parentIds": ["HP_0031192"], "name": "Left ventricular noncompaction"} +{"id": "HP_0030718", "parentIds": ["HP_0005120"], "name": "Right atrial enlargement"} {"id": "HP_0030757", "parentIds": ["HP_0002715", "HP_0000164"], "name": "Tooth abscess"} -{"id": "HP_0030766", "parentIds": ["HP_0025142", "HP_0000598", "EFO_0003843"], "name": "Ear pain"} -{"id": "HP_0030775", "parentIds": ["HP_0000925"], "name": "Modic type vertebral endplate changes"} +{"id": "HP_0030766", "parentIds": ["HP_0000598", "EFO_0003843", "HP_0012531"], "name": "Ear pain"} +{"id": "HP_0030775", "parentIds": ["HP_0003468"], "name": "Modic type vertebral endplate changes"} {"id": "HP_0030791", "parentIds": ["HP_0011821"], "name": "Abnormal jaw morphology"} -{"id": "HP_0030833", "parentIds": ["EFO_0003843", "HP_0025142"], "name": "Neck pain"} -{"id": "HP_0030834", "parentIds": ["HP_0025142", "EFO_0003843"], "name": "Shoulder pain"} -{"id": "HP_0030838", "parentIds": ["EFO_0003843", "HP_0025142"], "name": "Hip pain"} +{"id": "HP_0030824", "parentIds": ["HP_0004329"], "name": "Mizuo phenomenon"} +{"id": "HP_0030828", "parentIds": ["HP_0002086"], "name": "Wheezing"} +{"id": "HP_0030833", "parentIds": ["EFO_0003843", "HP_0012531"], "name": "Neck pain"} +{"id": "HP_0030834", "parentIds": ["HP_0012531", "EFO_0003843"], "name": "Shoulder pain"} +{"id": "HP_0030838", "parentIds": ["EFO_0003843", "HP_0012531"], "name": "Hip pain"} {"id": "HP_0030839", "parentIds": ["HP_0012514"], "name": "Knee pain"} +{"id": "HP_0030852", "parentIds": ["HP_0011025", "HP_0002597"], "name": "High pulse pressure"} {"id": "HP_0030853", "parentIds": ["HP_0001507"], "name": "Heterotaxy"} {"id": "HP_0030878", "parentIds": ["HP_0002086"], "name": "Abnormality on pulmonary function testing"} {"id": "HP_0030895", "parentIds": ["HP_0012719"], "name": "Abnormal gastrointestinal motility"} {"id": "HP_0030897", "parentIds": ["HP_0030895"], "name": "Decreased intestinal transit time"} {"id": "HP_0030914", "parentIds": ["HP_0002579"], "name": "Abnormal peristalsis"} +{"id": "HP_0030955", "parentIds": ["HP_0000708"], "name": "Addictive alcohol use"} {"id": "HP_0030956", "parentIds": ["HP_0011025"], "name": "Abnormality of cardiovascular system electrophysiology"} {"id": "HP_0030972", "parentIds": ["HP_0011025"], "name": "Abnormal systemic blood pressure"} {"id": "HP_0031030", "parentIds": ["HP_0001939"], "name": "Elevated carcinoma antigen 125 level"} {"id": "HP_0031047", "parentIds": ["HP_0011017", "HP_0002715", "HP_0001871"], "name": "Paraproteinemia"} +{"id": "HP_0031067", "parentIds": ["HP_0000078"], "name": "Empty ovarian follicle"} +{"id": "HP_0031097", "parentIds": ["HP_0003117"], "name": "Abnormal thyroid-stimulating hormone level"} {"id": "HP_0031122", "parentIds": ["HP_0001647"], "name": "Two-raphe bicuspid aortic valve"} {"id": "HP_0031192", "parentIds": ["HP_0001627"], "name": "Abnormal morphology of left ventricular trabeculae"} +{"id": "HP_0031207", "parentIds": ["HP_0002597", "HP_0011024", "HP_0001392"], "name": "Hepatic hemangioma"} {"id": "HP_0031217", "parentIds": ["HP_0025142"], "name": "Hot flashes"} +{"id": "HP_0031247", "parentIds": ["HP_0012735"], "name": "Whooping cough"} +{"id": "HP_0031258", "parentIds": ["HP_0001289"], "name": "Delirium"} {"id": "HP_0031273", "parentIds": ["HP_0011025"], "name": "Shock"} {"id": "HP_0031284", "parentIds": ["HP_0011121"], "name": "Flushing"} {"id": "HP_0031292", "parentIds": ["HP_0011123"], "name": "Cutaneous abscess"} -{"id": "HP_0031295", "parentIds": ["HP_0001627"], "name": "Left atrial enlargement"} +{"id": "HP_0031295", "parentIds": ["HP_0005120"], "name": "Left atrial enlargement"} +{"id": "HP_0031348", "parentIds": ["HP_0001627", "HP_0002597"], "name": "Dextrotransposition of the great arteries"} {"id": "HP_0031364", "parentIds": ["HP_0000979"], "name": "Ecchymosis"} -{"id": "HP_0031458", "parentIds": ["HP_0100763", "HP_0002086", "HP_0000366"], "name": "Adenoiditis"} +{"id": "HP_0031411", "parentIds": ["HP_0025354"], "name": "Abnormal chromosome morphology"} +{"id": "HP_0031458", "parentIds": ["HP_3000033"], "name": "Adenoiditis"} {"id": "HP_0031481", "parentIds": ["HP_0011025"], "name": "Abnormal mitral valve physiology"} +{"id": "HP_0031508", "parentIds": ["HP_0003117", "HP_0002926"], "name": "Abnormal circulating thyroid hormone concentration"} {"id": "HP_0031652", "parentIds": ["HP_0011025"], "name": "Abnormal aortic valve physiology"} {"id": "HP_0031678", "parentIds": ["HP_0002597", "HP_0030680"], "name": "Atherosclerotic lesion"} {"id": "HP_0031685", "parentIds": ["HP_0025031", "HP_0001939"], "name": "Abnormal stool composition"} +{"id": "HP_0031694", "parentIds": ["HP_0002715"], "name": "Severe adenovirus infection"} {"id": "HP_0031703", "parentIds": ["HP_0000598"], "name": "Abnormal ear morphology"} {"id": "HP_0031760", "parentIds": ["EFO_0003966", "HP_0000565"], "name": "Non-accomodative esotropia"} {"id": "HP_0031801", "parentIds": ["HP_0000118"], "name": "Vocal cord dysfunction"} {"id": "HP_0031826", "parentIds": ["HP_0100022"], "name": "Abnormal reflex"} {"id": "HP_0031844", "parentIds": ["HP_0100851"], "name": "Euphoria"} -{"id": "HP_0031860", "parentIds": ["HP_0030956"], "name": "Abnormal heart rate variability"} +{"id": "HP_0031860", "parentIds": ["HP_0011675"], "name": "Abnormal heart rate variability"} +{"id": "HP_0031936", "parentIds": ["HP_0002194"], "name": "Delayed ability to walk"} +{"id": "HP_0031956", "parentIds": ["HP_0002910"], "name": "Elevated circulating aspartate aminotransferase concentration"} +{"id": "HP_0031960", "parentIds": ["HP_0001332"], "name": "Arm dystonia"} +{"id": "HP_0031964", "parentIds": ["HP_0002910"], "name": "Elevated circulating alanine aminotransferase concentration"} {"id": "HP_0031987", "parentIds": ["HP_0100543"], "name": "Diminished ability to concentrate"} {"id": "HP_0032016", "parentIds": ["HP_0002086"], "name": "Abnormal sputum"} +{"id": "HP_0032059", "parentIds": ["HP_0012443"], "name": "Mild malformation of cortical development"} {"id": "HP_0032072", "parentIds": ["HP_0011842", "HP_0002814"], "name": "Popliteal synovial cyst"} {"id": "HP_0032141", "parentIds": ["HP_0100749"], "name": "Precordial pain"} {"id": "HP_0032153", "parentIds": ["HP_0011842"], "name": "Joint subluxation"} @@ -1636,45 +2199,66 @@ {"id": "HP_0032252", "parentIds": ["HP_0002715"], "name": "Granuloma"} {"id": "HP_0032263", "parentIds": ["HP_0030972"], "name": "Increased blood pressure"} {"id": "HP_0032310", "parentIds": ["HP_0001881"], "name": "Granulocytosis"} +{"id": "HP_0032367", "parentIds": ["HP_0003117"], "name": "Abnormal growth hormone level"} +{"id": "HP_0032397", "parentIds": ["HP_0003355"], "name": "Citrullinuria"} {"id": "HP_0032408", "parentIds": ["HP_0000769"], "name": "Breast mass"} {"id": "HP_0032547", "parentIds": ["HP_0000478"], "name": "Low intraocular pressure"} {"id": "HP_0032565", "parentIds": ["HP_0000008"], "name": "Vaginal mucosal ulceration"} +{"id": "HP_0032647", "parentIds": ["HP_0012210"], "name": "Renal tubular epithelial cell apoptosis"} +{"id": "HP_0032660", "parentIds": ["HP_0002069"], "name": "Convulsive status epilepticus"} {"id": "HP_0033006", "parentIds": ["HP_0002088"], "name": "Diffuse alveolar damage"} +{"id": "HP_0033132", "parentIds": ["HP_0012210"], "name": "Renal cortical hyperechogenicity"} +{"id": "HP_0033428", "parentIds": ["HP_0012649"], "name": "Systemic autoinflammation"} {"id": "HP_0033454", "parentIds": ["HP_0011968"], "name": "Tube feeding"} {"id": "HP_0034241", "parentIds": ["EFO_0005056"], "name": "Prenatal death"} {"id": "HP_0040019", "parentIds": ["HP_0030084", "HP_0001167"], "name": "Finger clinodactyly"} {"id": "HP_0040064", "parentIds": ["HP_0000118"], "name": "Abnormality of limbs"} {"id": "HP_0040070", "parentIds": ["HP_0011842", "HP_0002817"], "name": "Abnormal upper limb bone morphology"} -{"id": "HP_0040079", "parentIds": ["HP_0000164"], "name": "Irregular dentition"} +{"id": "HP_0040079", "parentIds": ["HP_0006482"], "name": "Irregular dentition"} {"id": "HP_0040082", "parentIds": ["HP_0000708"], "name": "Happy demeanor"} {"id": "HP_0040151", "parentIds": ["HP_0000271"], "name": "Epiblepharon of lower lid"} -{"id": "HP_0040165", "parentIds": ["HP_0011842"], "name": "Periostitis"} +{"id": "HP_0040165", "parentIds": ["HP_0003330"], "name": "Periostitis"} {"id": "HP_0040175", "parentIds": ["HP_0001939"], "name": "Platelet-activating factor acetylhydrolase deficiency"} {"id": "HP_0040183", "parentIds": ["HP_0025142", "HP_0025031"], "name": "Encopresis"} {"id": "HP_0040185", "parentIds": ["HP_0001873"], "name": "Macrothrombocytopenia"} {"id": "HP_0040187", "parentIds": ["HP_0100806"], "name": "Neonatal sepsis"} -{"id": "HP_0040188", "parentIds": ["HP_0011842"], "name": "Osteochondrosis"} +{"id": "HP_0040188", "parentIds": ["HP_0011842", "HP_0010885"], "name": "Osteochondrosis"} {"id": "HP_0040216", "parentIds": ["HP_0003117"], "name": "Hypoinsulinemia"} {"id": "HP_0040223", "parentIds": ["MP_0001914", "HP_0001892", "HP_0011028", "HP_0002088"], "name": "Pulmonary hemorrhage"} {"id": "HP_0040233", "parentIds": ["HP_0001928"], "name": "Factor XIII subunit A deficiency"} {"id": "HP_0040269", "parentIds": ["HP_0031703"], "name": "Blocked Eustachian tube"} {"id": "HP_0040270", "parentIds": ["HP_0001952"], "name": "Impaired glucose tolerance"} +{"id": "HP_0041051", "parentIds": ["HP_0000223"], "name": "Ageusia"} {"id": "HP_0045046", "parentIds": ["HP_0001939"], "name": "Reduced insulin like growth factor binding protein acid labile subunit concentration"} -{"id": "HP_0045059", "parentIds": ["HP_0011368"], "name": "Hyperkeratotic papule"} -{"id": "HP_0045075", "parentIds": ["HP_0000271", "HP_0001574"], "name": "Sparse eyebrow"} +{"id": "HP_0045059", "parentIds": ["HP_0000962"], "name": "Hyperkeratotic papule"} +{"id": "HP_0045075", "parentIds": ["HP_0000534"], "name": "Sparse eyebrow"} +{"id": "HP_0045084", "parentIds": ["HP_0001336"], "name": "Limb myoclonus"} {"id": "HP_0100014", "parentIds": ["HP_0001103"], "name": "Epiretinal membrane"} {"id": "HP_0100022", "parentIds": ["HP_0012638"], "name": "Abnormality of movement"} {"id": "HP_0100023", "parentIds": ["HP_0000733"], "name": "Recurrent hand flapping"} +{"id": "HP_0100024", "parentIds": ["HP_0040082"], "name": "Conspicuously happy disposition"} +{"id": "HP_0100030", "parentIds": ["HP_0000820"], "name": "Accessory ectopic thyroid tissue"} {"id": "HP_0100033", "parentIds": ["HP_0000708"], "name": "Tics"} +{"id": "HP_0100034", "parentIds": ["HP_0100033"], "name": "Motor tics"} +{"id": "HP_0100035", "parentIds": ["HP_0100033"], "name": "Phonic tics"} +{"id": "HP_0100036", "parentIds": ["HP_0003330"], "name": "Pseudo-fractures"} {"id": "HP_0100249", "parentIds": ["HP_0011805", "HP_0000924"], "name": "Calcification of muscles"} +{"id": "HP_0100255", "parentIds": ["HP_0040064", "HP_0002652", "HP_0011314"], "name": "Metaphyseal dysplasia"} {"id": "HP_0100256", "parentIds": ["HP_0007367"], "name": "Senile plaques"} {"id": "HP_0100257", "parentIds": ["HP_0040064", "HP_0011842"], "name": "Ectrodactyly"} +{"id": "HP_0100267", "parentIds": ["HP_0011121", "HP_0000153"], "name": "Lip pit"} {"id": "HP_0100281", "parentIds": ["HP_0002037"], "name": "Chronic colitis"} +{"id": "HP_0100306", "parentIds": ["HP_0011805"], "name": "Muscle fiber hyaline bodies"} {"id": "HP_0100309", "parentIds": ["HP_0100659", "HP_0001892", "EFO_0000551", "HP_0011028"], "name": "Subdural hemorrhage"} -{"id": "HP_0100501", "parentIds": ["HP_0002205"], "name": "Recurrent bronchiolitis"} -{"id": "HP_0100504", "parentIds": ["HP_0100508"], "name": "Low levels of vitamin B2"} +{"id": "HP_0100324", "parentIds": ["HP_0001072"], "name": "Scleroderma"} +{"id": "HP_0100493", "parentIds": ["HP_0004364"], "name": "Hypoammonemia"} +{"id": "HP_0100501", "parentIds": ["HP_0002783"], "name": "Recurrent bronchiolitis"} +{"id": "HP_0100502", "parentIds": ["HP_0100508"], "name": "Decreased circulating vitamin B12 concentration"} +{"id": "HP_0100504", "parentIds": ["HP_0100508"], "name": "Decreased circulating vitamin B2 concentration"} {"id": "HP_0100508", "parentIds": ["HP_0001939"], "name": "Abnormality of vitamin metabolism"} +{"id": "HP_0100512", "parentIds": ["HP_0100508"], "name": "Decreased circulating vitamin D concentration"} {"id": "HP_0100523", "parentIds": ["HP_0002715", "HP_0001392"], "name": "Liver abscess"} +{"id": "HP_0100526", "parentIds": ["HP_0002088"], "name": "Neoplasm of the lung"} {"id": "HP_0100529", "parentIds": ["HP_0003111"], "name": "Abnormal blood phosphate concentration"} {"id": "HP_0100534", "parentIds": ["HP_0012649", "HP_0000478"], "name": "Episcleritis"} {"id": "HP_0100537", "parentIds": ["HP_0003549", "MP_0001845", "HP_0012649"], "name": "Fasciitis"} @@ -1682,38 +2266,48 @@ {"id": "HP_0100545", "parentIds": ["HP_0002597", "HP_0030680"], "name": "Arterial stenosis"} {"id": "HP_0100550", "parentIds": ["HP_0011842"], "name": "Tendon rupture"} {"id": "HP_0100559", "parentIds": ["HP_0001507", "HP_0002814"], "name": "Lower limb asymmetry"} -{"id": "HP_0100578", "parentIds": ["HP_0009124"], "name": "Lipoatrophy"} +{"id": "HP_0100578", "parentIds": ["HP_0009125"], "name": "Lipoatrophy"} {"id": "HP_0100582", "parentIds": ["HP_0000366"], "name": "Nasal polyposis"} +{"id": "HP_0100584", "parentIds": ["HP_0012649", "HP_0001627"], "name": "Endocarditis"} {"id": "HP_0100585", "parentIds": ["HP_0011276"], "name": "Telangiectasia of the skin"} {"id": "HP_0100595", "parentIds": ["HP_0000925"], "name": "Camptocormia"} {"id": "HP_0100607", "parentIds": ["HP_0000078"], "name": "Dysmenorrhea"} {"id": "HP_0100608", "parentIds": ["HP_0000078"], "name": "Metrorrhagia"} {"id": "HP_0100613", "parentIds": ["EFO_0005056"], "name": "Death in early adulthood"} +{"id": "HP_0100629", "parentIds": ["HP_0000271"], "name": "Midline facial cleft"} {"id": "HP_0100633", "parentIds": ["HP_0002031", "EFO_0009544", "HP_0004386"], "name": "Esophagitis"} +{"id": "HP_0100658", "parentIds": ["HP_0003549"], "name": "Cellulitis"} {"id": "HP_0100659", "parentIds": ["HP_0012443", "HP_0002597", "HP_0030680"], "name": "Abnormal cerebral vascular morphology"} +{"id": "HP_0100694", "parentIds": ["HP_0002814", "HP_0011842"], "name": "Tibial torsion"} {"id": "HP_0100698", "parentIds": ["EFO_0000622", "HP_0000707", "HP_0000951"], "name": "Subcutaneous neurofibroma"} {"id": "HP_0100699", "parentIds": ["HP_0003549"], "name": "Scarring"} {"id": "HP_0100704", "parentIds": ["HP_0000505"], "name": "Cerebral visual impairment"} {"id": "HP_0100716", "parentIds": ["HP_0000708"], "name": "Self-injurious behavior"} {"id": "HP_0100727", "parentIds": ["HP_0001881"], "name": "Histiocytosis"} +{"id": "HP_0100731", "parentIds": ["HP_0011338"], "name": "Transverse facial cleft"} +{"id": "HP_0100736", "parentIds": ["HP_0000153"], "name": "Abnormal soft palate morphology"} {"id": "HP_0100738", "parentIds": ["HP_0000708"], "name": "Abnormal eating behavior"} -{"id": "HP_0100749", "parentIds": ["HP_0025142", "EFO_0003843"], "name": "Chest pain"} +{"id": "HP_0100749", "parentIds": ["EFO_0003843", "HP_0012531"], "name": "Chest pain"} {"id": "HP_0100755", "parentIds": ["HP_0000153"], "name": "Abnormality of salivation"} {"id": "HP_0100759", "parentIds": ["HP_0001167"], "name": "Clubbing of fingers"} {"id": "HP_0100763", "parentIds": ["HP_0002597", "HP_0002715"], "name": "Abnormality of the lymphatic system"} -{"id": "HP_0100783", "parentIds": ["HP_0000769"], "name": "Breast aplasia"} +{"id": "HP_0100765", "parentIds": ["HP_0100763"], "name": "Abnormality of the tonsils"} +{"id": "HP_0100774", "parentIds": ["HP_0011842"], "name": "Hyperostosis"} +{"id": "HP_0100783", "parentIds": ["HP_0010311"], "name": "Breast aplasia"} {"id": "HP_0100790", "parentIds": ["HP_0003549"], "name": "Hernia"} {"id": "HP_0100806", "parentIds": ["HP_0002715"], "name": "Sepsis"} {"id": "HP_0100807", "parentIds": ["HP_0001167"], "name": "Long fingers"} -{"id": "HP_0100813", "parentIds": ["HP_0000078"], "name": "Testicular torsion"} +{"id": "HP_0100813", "parentIds": ["HP_0000035"], "name": "Testicular torsion"} {"id": "HP_0100825", "parentIds": ["HP_0000153", "MP_0001845"], "name": "Cheilitis"} {"id": "HP_0100832", "parentIds": ["HP_0000504", "HP_0004329"], "name": "Vitreous floaters"} {"id": "HP_0100851", "parentIds": ["HP_0011446"], "name": "Abnormal emotion"} {"id": "HP_0100880", "parentIds": ["HP_0012210"], "name": "Nephrogenic rest"} +{"id": "HP_0100963", "parentIds": ["HP_0003474"], "name": "Hyperesthesia"} {"id": "HP_0200023", "parentIds": ["HP_0000078"], "name": "Priapism"} -{"id": "HP_0200026", "parentIds": ["HP_0025142", "HP_0000478"], "name": "Ocular pain"} +{"id": "HP_0200026", "parentIds": ["HP_0012531", "HP_0000478"], "name": "Ocular pain"} {"id": "HP_0200032", "parentIds": ["HP_0007957"], "name": "Kayser-Fleischer ring"} {"id": "HP_0200037", "parentIds": ["HP_0011121"], "name": "Skin vesicle"} +{"id": "HP_0200039", "parentIds": ["HP_0011123"], "name": "Pustule"} {"id": "HP_0200042", "parentIds": ["HP_0011121"], "name": "Skin ulcer"} {"id": "HP_0200049", "parentIds": ["HP_0002817", "HP_0002509"], "name": "Upper limb hypertonia"} {"id": "HP_0200055", "parentIds": ["HP_0011842", "HP_0002817"], "name": "Small hand"} @@ -1721,15 +2315,22 @@ {"id": "HP_0200119", "parentIds": ["HP_0012115"], "name": "Acute hepatitis"} {"id": "HP_0200134", "parentIds": ["HP_0001298"], "name": "Epileptic encephalopathy"} {"id": "HP_0200148", "parentIds": ["HP_0002910"], "name": "Abnormal liver function tests during pregnancy"} +{"id": "HP_0400004", "parentIds": ["HP_0000377"], "name": "Long ear"} {"id": "HP_0400007", "parentIds": ["HP_0000078"], "name": "Polymenorrhea"} {"id": "HP_0410049", "parentIds": ["HP_0011842", "HP_0040064"], "name": "Abnormal radial ray morphology"} +{"id": "HP_0410139", "parentIds": ["HP_0002715"], "name": "Exercise induced anaphylaxis"} +{"id": "HP_0410176", "parentIds": ["HP_0001939"], "name": "Abnormal circulating glucose-6-phosphate dehydrogenase concentration"} {"id": "HP_0410204", "parentIds": ["HP_0030895"], "name": "Increased intestinal transit time"} +{"id": "HP_0410253", "parentIds": ["HP_0001871"], "name": "Myeloid maturation arrest"} +{"id": "HP_0410280", "parentIds": ["HP_0003674"], "name": "Pediatric onset"} +{"id": "HP_0430000", "parentIds": ["HP_0002683"], "name": "Abnormal frontal bone morphology"} {"id": "HP_0430008", "parentIds": ["HP_0000271"], "name": "Accessory eyelid"} -{"id": "MONDO_0000005", "parentIds": ["MONDO_0021034"], "name": "alopecia, isolated"} +{"id": "HP_3000033", "parentIds": ["HP_0000366", "HP_0100765", "HP_0002086"], "name": "Abnormal nasopharyngeal adenoid morphology"} +{"id": "MONDO_0000005", "parentIds": ["MONDO_0100118", "MONDO_0004907"], "name": "alopecia, isolated"} {"id": "MONDO_0000009", "parentIds": ["MONDO_0002243", "EFO_0000508", "MONDO_0002245"], "name": "inherited bleeding disorder, platelet-type"} {"id": "MONDO_0000014", "parentIds": ["MONDO_0001703"], "name": "colorblindness, partial"} {"id": "MONDO_0000015", "parentIds": ["MONDO_0003832"], "name": "classic complement early component deficiency"} -{"id": "MONDO_0000023", "parentIds": ["MONDO_0015508"], "name": "infantile liver failure"} +{"id": "MONDO_0000023", "parentIds": ["MONDO_0100192", "EFO_0000508"], "name": "infantile liver failure"} {"id": "MONDO_0000030", "parentIds": ["MONDO_0002612", "MONDO_0017704"], "name": "sleep-related hypermotor epilepsy"} {"id": "MONDO_0000032", "parentIds": ["EFO_0000508"], "name": "febrile seizures, familial"} {"id": "MONDO_0000044", "parentIds": ["MONDO_0024300", "EFO_0000508"], "name": "hereditary hypophosphatemic rickets"} @@ -1738,14 +2339,15 @@ {"id": "MONDO_0000060", "parentIds": ["MONDO_0001149"], "name": "microcephalic osteodysplastic primordial dwarfism"} {"id": "MONDO_0000062", "parentIds": ["EFO_0005569", "EFO_0000508"], "name": "isolated microphthalmia"} {"id": "MONDO_0000066", "parentIds": ["MONDO_0004069"], "name": "mitochondrial complex deficiency"} -{"id": "MONDO_0000075", "parentIds": ["EFO_0003782"], "name": "neuronopathy, distal hereditary motor"} {"id": "MONDO_0000078", "parentIds": ["MONDO_0019796"], "name": "acrocephalopolysyndactyly"} +{"id": "MONDO_0000079", "parentIds": ["EFO_0003882"], "name": "nephrolithiasis/osteoporosis, hypophosphatemic"} {"id": "MONDO_0000087", "parentIds": ["MONDO_0002320"], "name": "polymicrogyria"} {"id": "MONDO_0000088", "parentIds": ["MONDO_0002259"], "name": "precocious puberty"} {"id": "MONDO_0000090", "parentIds": ["EFO_0002509"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions"} {"id": "MONDO_0000104", "parentIds": ["MONDO_0000387", "EFO_0000508"], "name": "anemia, hypochromic microcytic with iron overload"} -{"id": "MONDO_0000107", "parentIds": ["MONDO_0015334", "MONDO_0007500"], "name": "auriculocondylar syndrome"} -{"id": "MONDO_0000110", "parentIds": ["MONDO_0015412", "MONDO_0015503", "MONDO_0018562"], "name": "bifid nose"} +{"id": "MONDO_0000105", "parentIds": ["EFO_1000641"], "name": "anemia, nonspherocytic hemolytic"} +{"id": "MONDO_0000107", "parentIds": ["MONDO_0007500"], "name": "auriculocondylar syndrome"} +{"id": "MONDO_0000110", "parentIds": ["MONDO_0015411"], "name": "bifid nose"} {"id": "MONDO_0000111", "parentIds": ["EFO_0000508"], "name": "camptodactyly syndrome, Guadalajara"} {"id": "MONDO_0000114", "parentIds": ["EFO_0000508"], "name": "cerebelloparenchymal disorder"} {"id": "MONDO_0000115", "parentIds": ["EFO_0000508"], "name": "Chiari malformation"} @@ -1755,68 +2357,86 @@ {"id": "MONDO_0000128", "parentIds": ["MONDO_0004183", "MONDO_0020127"], "name": "giant axonal neuropathy"} {"id": "MONDO_0000129", "parentIds": ["EFO_0000589"], "name": "glutaric aciduria"} {"id": "MONDO_0000133", "parentIds": ["MONDO_0100137", "EFO_1000017"], "name": "immunodeficiency-centromeric instability-facial anomalies syndrome"} -{"id": "MONDO_0000136", "parentIds": ["MONDO_0018855", "EFO_1000720", "MONDO_0800159", "MONDO_0100118", "MONDO_0020162"], "name": "keratosis follicularis spinulosa decalvans"} -{"id": "MONDO_0000137", "parentIds": ["EFO_0005774", "EFO_0000508"], "name": "leukoencephalopathy, megalencephalic"} +{"id": "MONDO_0000136", "parentIds": ["MONDO_0018855", "EFO_1000720", "MONDO_0800159"], "name": "keratosis follicularis spinulosa decalvans"} +{"id": "MONDO_0000137", "parentIds": ["EFO_0005774", "MONDO_0100545"], "name": "leukoencephalopathy, megalencephalic"} {"id": "MONDO_0000141", "parentIds": ["MONDO_0019040", "MONDO_0015356"], "name": "mosaic variegated aneuploidy syndrome"} {"id": "MONDO_0000147", "parentIds": ["MONDO_0021075"], "name": "polyposis"} {"id": "MONDO_0000148", "parentIds": ["MONDO_0100137", "EFO_0000508", "EFO_0009448"], "name": "pulmonary fibrosis and/or bone marrow failure, telomere-related"} {"id": "MONDO_0000151", "parentIds": ["EFO_0002461"], "name": "symphalangism"} {"id": "MONDO_0000152", "parentIds": ["MONDO_0017578"], "name": "thiamine-responsive dysfunction syndrome"} -{"id": "MONDO_0000153", "parentIds": ["MONDO_0020285"], "name": "transposition of the great arteries"} +{"id": "MONDO_0000153", "parentIds": ["EFO_0005269"], "name": "transposition of the great arteries"} {"id": "MONDO_0000156", "parentIds": ["MONDO_0018234"], "name": "trigonocephaly"} {"id": "MONDO_0000159", "parentIds": ["MONDO_0003225", "EFO_0000508"], "name": "bone marrow failure syndrome"} {"id": "MONDO_0000160", "parentIds": ["MONDO_0016022"], "name": "epilepsy, familial adult myoclonic"} -{"id": "MONDO_0000166", "parentIds": ["EFO_0005774", "MONDO_0021669", "EFO_0000508"], "name": "encephalopathy, acute, infection-induced"} +{"id": "MONDO_0000166", "parentIds": ["EFO_1001456", "MONDO_0100545", "EFO_0005774", "MONDO_0021669"], "name": "encephalopathy, acute, infection-induced"} {"id": "MONDO_0000167", "parentIds": ["MONDO_0024237"], "name": "Huntington disease and related disorders"} {"id": "MONDO_0000169", "parentIds": ["MONDO_0000062"], "name": "microphthalmia, isolated, with cataract"} {"id": "MONDO_0000170", "parentIds": ["MONDO_0001476", "MONDO_0016764", "MONDO_0000062"], "name": "microphthalmia, isolated, with coloboma"} -{"id": "MONDO_0000171", "parentIds": ["MONDO_0016185", "MONDO_0700068", "MONDO_0016156", "MONDO_0018869", "MONDO_0020247", "MONDO_0018276", "MONDO_0700066", "MONDO_0016184", "MONDO_0017745"], "name": "muscular dystrophy-dystroglycanopathy, type A"} +{"id": "MONDO_0000171", "parentIds": ["MONDO_0018276"], "name": "muscular dystrophy-dystroglycanopathy, type A"} {"id": "MONDO_0000172", "parentIds": ["MONDO_0018276"], "name": "muscular dystrophy-dystroglycanopathy, type B"} {"id": "MONDO_0000173", "parentIds": ["MONDO_0018276"], "name": "muscular dystrophy-dystroglycanopathy, type C"} -{"id": "MONDO_0000179", "parentIds": ["MONDO_0015159", "MONDO_0015327", "MONDO_0015148", "MONDO_0017270", "MONDO_0018491"], "name": "Neu-Laxova syndrome"} -{"id": "MONDO_0000181", "parentIds": ["MONDO_0004674", "MONDO_0100500", "MONDO_0001149", "MONDO_0957008"], "name": "microcephaly and chorioretinopathy"} -{"id": "MONDO_0000188", "parentIds": ["MONDO_0015653", "MONDO_0100033", "MONDO_0019226"], "name": "GLUT1 deficiency syndrome"} +{"id": "MONDO_0000179", "parentIds": ["EFO_0010285", "MONDO_0015159", "MONDO_0015327", "MONDO_0015148", "MONDO_0018491"], "name": "Neu-Laxova syndrome"} +{"id": "MONDO_0000181", "parentIds": ["MONDO_0004674", "MONDO_0100500", "MONDO_0001149"], "name": "microcephaly and chorioretinopathy"} +{"id": "MONDO_0000188", "parentIds": ["MONDO_0100033", "MONDO_0019226", "MONDO_0100545"], "name": "GLUT1 deficiency syndrome"} {"id": "MONDO_0000192", "parentIds": ["EFO_0004145", "MONDO_0700223"], "name": "polyglucosan body myopathy"} -{"id": "MONDO_0000193", "parentIds": ["MONDO_0016072", "MONDO_0002525", "MONDO_0015898"], "name": "cortisone reductase deficiency"} +{"id": "MONDO_0000193", "parentIds": ["EFO_0000512", "MONDO_0002525", "MONDO_0015898"], "name": "cortisone reductase deficiency"} {"id": "MONDO_0000200", "parentIds": ["EFO_0000508"], "name": "Zimmermann-Laband syndrome"} {"id": "MONDO_0000209", "parentIds": ["MONDO_0015168", "MONDO_0002320", "MONDO_0024257"], "name": "prenatal-onset spinal muscular atrophy with congenital bone fractures"} {"id": "MONDO_0000210", "parentIds": ["MONDO_0019052"], "name": "thiopurine metabolic disease"} {"id": "MONDO_0000211", "parentIds": ["MONDO_0003122"], "name": "striatal degeneration, autosomal dominant"} -{"id": "MONDO_0000212", "parentIds": ["MONDO_0019052", "EFO_1000017", "MONDO_0001566"], "name": "hypercalcemia, infantile"} +{"id": "MONDO_0000212", "parentIds": ["EFO_1000017", "MONDO_0019052", "MONDO_0001566"], "name": "hypercalcemia, infantile"} {"id": "MONDO_0000214", "parentIds": ["MONDO_0019052"], "name": "hypermanganesemia with dystonia"} +{"id": "MONDO_0000224", "parentIds": ["EFO_1000639", "MONDO_0037792"], "name": "acquired carbohydrate metabolism disease"} +{"id": "MONDO_0000236", "parentIds": ["MONDO_0020592", "MONDO_0001701", "MONDO_0043424"], "name": "oropharyngeal anthrax"} {"id": "MONDO_0000252", "parentIds": ["EFO_1001463", "MONDO_0001673"], "name": "inflammatory diarrhea"} {"id": "MONDO_0000253", "parentIds": ["MONDO_0024481", "MONDO_0002917", "MONDO_0024268"], "name": "piedra"} {"id": "MONDO_0000254", "parentIds": ["EFO_0010285", "MONDO_0002041"], "name": "cutaneous mycosis"} {"id": "MONDO_0000255", "parentIds": ["MONDO_0000254"], "name": "subcutaneous mycosis"} {"id": "MONDO_0000256", "parentIds": ["MONDO_0002041"], "name": "systemic mycosis"} {"id": "MONDO_0000257", "parentIds": ["MONDO_0001673"], "name": "acute diarrhea"} +{"id": "MONDO_0000262", "parentIds": ["EFO_0009560", "EFO_0007510"], "name": "otomycosis"} {"id": "MONDO_0000263", "parentIds": ["MONDO_0002647", "EFO_0007518"], "name": "laryngotracheitis"} -{"id": "MONDO_0000271", "parentIds": ["MONDO_0003619", "EFO_0007531"], "name": "tuberculous salpingitis"} +{"id": "MONDO_0000271", "parentIds": ["MONDO_0003619", "MONDO_0021092", "EFO_0007531"], "name": "tuberculous salpingitis"} +{"id": "MONDO_0000286", "parentIds": ["EFO_0000769", "EFO_0004196"], "name": "Epstein-Barr virus hepatitis"} {"id": "MONDO_0000307", "parentIds": ["EFO_0001067"], "name": "parasitic Ichthyosporea infectious disease"} {"id": "MONDO_0000308", "parentIds": ["MONDO_0000256"], "name": "primary systemic mycosis"} +{"id": "MONDO_0000313", "parentIds": ["MONDO_0002319"], "name": "hypophosphatemia"} {"id": "MONDO_0000314", "parentIds": ["EFO_0000771"], "name": "primary bacterial infectious disease"} {"id": "MONDO_0000315", "parentIds": ["EFO_0000771"], "name": "commensal bacterial infectious disease"} {"id": "MONDO_0000316", "parentIds": ["EFO_0000771"], "name": "opportunistic bacterial infectious disease"} +{"id": "MONDO_0000320", "parentIds": ["EFO_1001444", "MONDO_0004928"], "name": "glandular tularemia"} {"id": "MONDO_0000327", "parentIds": ["MONDO_0020590", "MONDO_0000314"], "name": "Buruli ulcer disease"} +{"id": "MONDO_0000328", "parentIds": ["MONDO_0002319"], "name": "hyperphosphatemia"} {"id": "MONDO_0000334", "parentIds": ["EFO_1001062", "EFO_0000508"], "name": "multinodular goiter"} {"id": "MONDO_0000341", "parentIds": ["EFO_0007450"], "name": "paralytic poliomyelitis"} -{"id": "MONDO_0000351", "parentIds": ["MONDO_0004736", "MONDO_0037938", "MONDO_0019222"], "name": "disorder of methionine catabolism"} +{"id": "MONDO_0000351", "parentIds": ["MONDO_0037938", "MONDO_0019222"], "name": "disorder of methionine catabolism"} {"id": "MONDO_0000355", "parentIds": ["MONDO_0019950", "MONDO_0019952"], "name": "Ullrich congenital muscular dystrophy"} {"id": "MONDO_0000358", "parentIds": ["EFO_0000508", "MONDO_0023369"], "name": "orofacial cleft"} -{"id": "MONDO_0000359", "parentIds": ["MONDO_0018454", "MONDO_0000812"], "name": "spondylocostal dysostosis"} +{"id": "MONDO_0000359", "parentIds": ["EFO_0000508", "MONDO_0018234", "MONDO_0000812"], "name": "spondylocostal dysostosis"} {"id": "MONDO_0000365", "parentIds": ["MONDO_0020366"], "name": "primary congenital glaucoma"} {"id": "MONDO_0000368", "parentIds": ["MONDO_0018076"], "name": "extrapulmonary tuberculosis"} {"id": "MONDO_0000369", "parentIds": ["MONDO_0000368"], "name": "abdominal tuberculosis"} +{"id": "MONDO_0000371", "parentIds": ["MONDO_0004647", "MONDO_0044925"], "name": "oral cavity carcinoma in situ"} +{"id": "MONDO_0000372", "parentIds": ["MONDO_0004647", "MONDO_0021345"], "name": "pharynx carcinoma in situ"} +{"id": "MONDO_0000373", "parentIds": ["MONDO_0004715", "MONDO_0004647", "EFO_1001956"], "name": "gall bladder carcinoma in situ"} +{"id": "MONDO_0000374", "parentIds": ["MONDO_0004715", "EFO_0005540"], "name": "bile duct carcinoma in situ"} +{"id": "MONDO_0000375", "parentIds": ["EFO_1001942", "MONDO_0004660"], "name": "bronchus carcinoma in situ"} {"id": "MONDO_0000376", "parentIds": ["EFO_0000684", "MONDO_0004992"], "name": "respiratory system cancer"} +{"id": "MONDO_0000377", "parentIds": ["EFO_1000321", "MONDO_0002149"], "name": "malignant Leydig cell tumor"} {"id": "MONDO_0000380", "parentIds": ["MONDO_0020669", "MONDO_0056819", "MONDO_0002415"], "name": "paranasal sinus carcinoma"} +{"id": "MONDO_0000381", "parentIds": ["MONDO_0004010", "EFO_0003017"], "name": "infiltrating renal pelvis transitional cell carcinoma"} {"id": "MONDO_0000382", "parentIds": ["EFO_0002422", "EFO_0000684"], "name": "respiratory system benign neoplasm"} {"id": "MONDO_0000383", "parentIds": ["EFO_0002422", "EFO_1000051"], "name": "benign reproductive system neoplasm"} +{"id": "MONDO_0000384", "parentIds": ["EFO_0000294", "MONDO_0004180"], "name": "bladder benign neoplasm"} {"id": "MONDO_0000385", "parentIds": ["EFO_0010282", "EFO_0002422", "EFO_0008549"], "name": "benign digestive system neoplasm"} {"id": "MONDO_0000386", "parentIds": ["MONDO_0024503"], "name": "digestive system neuroendocrine tumor, grade 1/2"} {"id": "MONDO_0000387", "parentIds": ["MONDO_0001357", "MONDO_0001245"], "name": "hypochromic microcytic anemia"} {"id": "MONDO_0000389", "parentIds": ["EFO_0000508", "EFO_0005571"], "name": "atelosteogenesis"} {"id": "MONDO_0000390", "parentIds": ["EFO_0009606", "MONDO_0020242"], "name": "vitelliform macular dystrophy"} {"id": "MONDO_0000396", "parentIds": ["EFO_1000632"], "name": "spastic cerebral palsy"} +{"id": "MONDO_0000397", "parentIds": ["EFO_1000632"], "name": "ataxic cerebral palsy"} +{"id": "MONDO_0000405", "parentIds": ["MONDO_0024634", "EFO_0007330"], "name": "anal canal cancer"} +{"id": "MONDO_0000407", "parentIds": ["EFO_1000362", "MONDO_0021041"], "name": "malignant pleural solitary fibrous tumor"} {"id": "MONDO_0000411", "parentIds": ["EFO_0000474"], "name": "electroclinical syndrome"} {"id": "MONDO_0000412", "parentIds": ["MONDO_0000411"], "name": "neonatal period electroclinical syndrome"} {"id": "MONDO_0000413", "parentIds": ["MONDO_0000411"], "name": "infancy electroclinical syndrome"} @@ -1830,13 +2450,14 @@ {"id": "MONDO_0000430", "parentIds": ["MONDO_0015760", "EFO_0002426"], "name": "mature T-cell and NK-cell non-Hodgkin lymphoma"} {"id": "MONDO_0000432", "parentIds": ["MONDO_0004095"], "name": "lymphoplasmacytic lymphoma"} {"id": "MONDO_0000437", "parentIds": ["MONDO_0002427", "MONDO_0100308", "EFO_0004280"], "name": "cerebellar ataxia"} +{"id": "MONDO_0000440", "parentIds": ["EFO_1000014"], "name": "metabolic acidosis"} {"id": "MONDO_0000447", "parentIds": ["MONDO_0000426", "EFO_0001421"], "name": "autosomal dominant polycystic liver disease"} -{"id": "MONDO_0000453", "parentIds": ["EFO_0000508", "MONDO_0000992"], "name": "short QT syndrome"} +{"id": "MONDO_0000453", "parentIds": ["MONDO_0100547", "MONDO_0000992"], "name": "short QT syndrome"} {"id": "MONDO_0000455", "parentIds": ["MONDO_0020242"], "name": "cone dystrophy"} -{"id": "MONDO_0000456", "parentIds": ["MONDO_0100033", "MONDO_0019189", "MONDO_0045022", "MONDO_0015653", "MONDO_0019243", "MONDO_0004736"], "name": "cerebral creatine deficiency syndrome"} +{"id": "MONDO_0000456", "parentIds": ["MONDO_0100033", "MONDO_0019189", "MONDO_0045022", "MONDO_0100545", "MONDO_0019243", "MONDO_0004736"], "name": "cerebral creatine deficiency syndrome"} {"id": "MONDO_0000461", "parentIds": ["MONDO_0024298", "MONDO_0020699"], "name": "nutritional biotin deficiency"} {"id": "MONDO_0000463", "parentIds": ["EFO_1000017"], "name": "Ochoa syndrome"} -{"id": "MONDO_0000465", "parentIds": ["MONDO_0000992", "MONDO_0008848"], "name": "atrioventricular block"} +{"id": "MONDO_0000465", "parentIds": ["MONDO_0100547", "MONDO_0000992", "MONDO_0008848"], "name": "atrioventricular block"} {"id": "MONDO_0000468", "parentIds": ["MONDO_0007263", "MONDO_0000465"], "name": "third-degree atrioventricular block"} {"id": "MONDO_0000469", "parentIds": ["EFO_0005137", "MONDO_0000992"], "name": "sinoatrial node disorder"} {"id": "MONDO_0000470", "parentIds": ["EFO_0003777"], "name": "endocardium disorder"} @@ -1846,26 +2467,39 @@ {"id": "MONDO_0000477", "parentIds": ["MONDO_0003441"], "name": "focal dystonia"} {"id": "MONDO_0000478", "parentIds": ["MONDO_0003441"], "name": "multifocal dystonia"} {"id": "MONDO_0000481", "parentIds": ["MONDO_0000477"], "name": "cervical dystonia"} +{"id": "MONDO_0000483", "parentIds": ["MONDO_0000477"], "name": "oculogyric crisis"} {"id": "MONDO_0000485", "parentIds": ["MONDO_0000477", "EFO_0009673"], "name": "spasmodic dystonia"} {"id": "MONDO_0000486", "parentIds": ["MONDO_0000477"], "name": "craniofacial dystonia"} {"id": "MONDO_0000489", "parentIds": ["EFO_0005774"], "name": "diabetic encephalopathy"} {"id": "MONDO_0000490", "parentIds": ["EFO_1002049"], "name": "glomerulosclerosis"} +{"id": "MONDO_0000491", "parentIds": ["MONDO_0005053"], "name": "limb ischemia"} +{"id": "MONDO_0000496", "parentIds": ["EFO_1000025"], "name": "hemorrhagic cystitis"} +{"id": "MONDO_0000497", "parentIds": ["MONDO_0002654"], "name": "pyometritis"} {"id": "MONDO_0000502", "parentIds": ["MONDO_0024276", "EFO_0000232"], "name": "villous adenoma"} +{"id": "MONDO_0000503", "parentIds": ["EFO_0000571", "MONDO_0004660", "MONDO_0003218"], "name": "lung adenocarcinoma in situ"} {"id": "MONDO_0000507", "parentIds": ["MONDO_0017276", "MONDO_0016112"], "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia"} {"id": "MONDO_0000508", "parentIds": ["EFO_0005548"], "name": "syndromic intellectual disability"} {"id": "MONDO_0000509", "parentIds": ["EFO_0005548"], "name": "non-syndromic intellectual disability"} +{"id": "MONDO_0000513", "parentIds": ["MONDO_0000631", "MONDO_0017795"], "name": "bone ameloblastoma"} {"id": "MONDO_0000514", "parentIds": ["MONDO_0002415", "EFO_0000707"], "name": "bone squamous cell carcinoma"} {"id": "MONDO_0000515", "parentIds": ["EFO_1000350", "EFO_0000333"], "name": "bone chondrosarcoma"} +{"id": "MONDO_0000517", "parentIds": ["EFO_1001767", "EFO_0002939"], "name": "brain stem medulloblastoma"} {"id": "MONDO_0000521", "parentIds": ["MONDO_0004669", "MONDO_0044925"], "name": "salivary gland carcinoma"} -{"id": "MONDO_0000524", "parentIds": ["MONDO_0015864", "MONDO_0003113"], "name": "mixed extragonadal germ cell cancer"} +{"id": "MONDO_0000524", "parentIds": ["MONDO_0003113", "MONDO_0015864"], "name": "mixed extragonadal germ cell cancer"} {"id": "MONDO_0000527", "parentIds": ["MONDO_0024479", "EFO_0005406"], "name": "colon adenoma"} {"id": "MONDO_0000530", "parentIds": ["EFO_0005406", "MONDO_0024476"], "name": "rectum adenoma"} +{"id": "MONDO_0000531", "parentIds": ["EFO_1001942", "EFO_0006740"], "name": "bronchus mucoepidermoid carcinoma"} {"id": "MONDO_0000532", "parentIds": ["EFO_0000571", "MONDO_0003438"], "name": "lung combined type small cell adenocarcinoma"} -{"id": "MONDO_0000535", "parentIds": ["MONDO_0021337", "MONDO_0044704"], "name": "tonsil squamous cell carcinoma"} +{"id": "MONDO_0000534", "parentIds": ["MONDO_0003036", "EFO_1000599"], "name": "trachea mucoepidermoid carcinoma"} {"id": "MONDO_0000540", "parentIds": ["MONDO_0002995", "MONDO_0021533"], "name": "small intestinal neuroendocrine tumor G1"} +{"id": "MONDO_0000541", "parentIds": ["EFO_1000998", "EFO_1000532"], "name": "jejunal adenocarcinoma"} +{"id": "MONDO_0000543", "parentIds": ["EFO_0002617", "EFO_0003893"], "name": "ovarian melanoma"} {"id": "MONDO_0000544", "parentIds": ["EFO_1000397"], "name": "mucosal melanoma"} +{"id": "MONDO_0000545", "parentIds": ["MONDO_0021070", "MONDO_0045063"], "name": "sublingual gland adenoid cystic carcinoma"} {"id": "MONDO_0000548", "parentIds": ["MONDO_0021144", "MONDO_0018364"], "name": "ovarian clear cell cancer"} +{"id": "MONDO_0000549", "parentIds": ["MONDO_0021351", "MONDO_0002749"], "name": "cervical neuroblastoma"} {"id": "MONDO_0000551", "parentIds": ["EFO_0000621", "MONDO_0024645"], "name": "retroperitoneal neuroblastoma"} +{"id": "MONDO_0000553", "parentIds": ["EFO_0007532", "EFO_1001512"], "name": "uterine corpus endometrial carcinoma"} {"id": "MONDO_0000554", "parentIds": ["MONDO_0004259", "EFO_0001416"], "name": "endocervical adenocarcinoma"} {"id": "MONDO_0000565", "parentIds": ["EFO_0005741", "EFO_0000465"], "name": "infective endocarditis"} {"id": "MONDO_0000569", "parentIds": ["EFO_0005809", "EFO_0001379"], "name": "autoimmune disorder of endocrine system"} @@ -1885,39 +2519,50 @@ {"id": "MONDO_0000603", "parentIds": ["EFO_0005809", "EFO_0000319"], "name": "autoimmune disorder of cardiovascular system"} {"id": "MONDO_0000608", "parentIds": ["MONDO_0100191"], "name": "familial juvenile hyperuricemic nephropathy"} {"id": "MONDO_0000611", "parentIds": ["EFO_0000616", "MONDO_0021074"], "name": "pre-malignant neoplasm"} -{"id": "MONDO_0000612", "parentIds": ["EFO_0007352", "MONDO_0000621"], "name": "lymphatic system cancer"} -{"id": "MONDO_0000620", "parentIds": ["EFO_0003869", "MONDO_0000634"], "name": "breast benign neoplasm"} +{"id": "MONDO_0000612", "parentIds": ["EFO_0007352", "MONDO_0002334", "MONDO_0000621"], "name": "lymphatic system cancer"} +{"id": "MONDO_0000620", "parentIds": ["MONDO_0000652", "EFO_0003869", "MONDO_0000634"], "name": "breast benign neoplasm"} {"id": "MONDO_0000621", "parentIds": ["MONDO_0004992", "EFO_0000540"], "name": "immune system cancer"} {"id": "MONDO_0000624", "parentIds": ["MONDO_0021148", "MONDO_0000383"], "name": "benign female reproductive system neoplasm"} {"id": "MONDO_0000625", "parentIds": ["MONDO_0000383", "EFO_0009555"], "name": "benign male reproductive system neoplasm"} +{"id": "MONDO_0000626", "parentIds": ["MONDO_0000643"], "name": "vestibular gland benign neoplasm"} {"id": "MONDO_0000627", "parentIds": ["EFO_0002422", "EFO_0003769"], "name": "benign endocrine neoplasm"} {"id": "MONDO_0000628", "parentIds": ["MONDO_0000648", "EFO_1000158"], "name": "central nervous system organ benign neoplasm"} {"id": "MONDO_0000629", "parentIds": ["EFO_0002422", "MONDO_0024757"], "name": "cardiovascular organ benign neoplasm"} +{"id": "MONDO_0000630", "parentIds": ["EFO_0002422", "EFO_0000540"], "name": "immune system organ benign neoplasm"} {"id": "MONDO_0000631", "parentIds": ["MONDO_0000654", "EFO_0003820"], "name": "bone benign neoplasm"} {"id": "MONDO_0000632", "parentIds": ["EFO_0003859", "MONDO_0000624"], "name": "uterine benign neoplasm"} {"id": "MONDO_0000633", "parentIds": ["MONDO_0000648"], "name": "sensory organ benign neoplasm"} {"id": "MONDO_0000634", "parentIds": ["MONDO_0021350", "EFO_0002422"], "name": "thoracic benign neoplasm"} {"id": "MONDO_0000636", "parentIds": ["EFO_0009676", "EFO_0002422"], "name": "musculoskeletal system benign neoplasm"} {"id": "MONDO_0000637", "parentIds": ["EFO_0009676", "MONDO_0004992"], "name": "musculoskeletal system cancer"} -{"id": "MONDO_0000638", "parentIds": ["EFO_0005543", "MONDO_0000648"], "name": "benign glioma"} +{"id": "MONDO_0000638", "parentIds": ["EFO_0005543", "MONDO_0000628"], "name": "benign glioma"} {"id": "MONDO_0000640", "parentIds": ["EFO_0000326", "EFO_0005235"], "name": "central nervous system primitive neuroectodermal neoplasm"} {"id": "MONDO_0000643", "parentIds": ["MONDO_0000624", "MONDO_0021049"], "name": "vulvar benign neoplasm"} +{"id": "MONDO_0000644", "parentIds": ["MONDO_0021230", "MONDO_0000632"], "name": "cervical benign neoplasm"} +{"id": "MONDO_0000645", "parentIds": ["MONDO_0021092", "MONDO_0000624"], "name": "fallopian tube benign neoplasm"} {"id": "MONDO_0000647", "parentIds": ["MONDO_0000624", "EFO_1001447"], "name": "benign vaginal neoplasm"} {"id": "MONDO_0000648", "parentIds": ["MONDO_0021248", "EFO_0002422"], "name": "nervous system benign neoplasm"} {"id": "MONDO_0000649", "parentIds": ["EFO_0007392"], "name": "sensory system cancer"} -{"id": "MONDO_0000650", "parentIds": ["EFO_0002422", "EFO_1001100"], "name": "peritoneal benign neoplasm"} +{"id": "MONDO_0000650", "parentIds": ["MONDO_0000385", "EFO_0002422", "EFO_1001100"], "name": "peritoneal benign neoplasm"} {"id": "MONDO_0000652", "parentIds": ["EFO_0002422", "EFO_0010285"], "name": "integumentary system benign neoplasm"} {"id": "MONDO_0000653", "parentIds": ["EFO_0010285", "MONDO_0004992"], "name": "integumentary system cancer"} {"id": "MONDO_0000654", "parentIds": ["EFO_1001986", "MONDO_0000636", "MONDO_0044334"], "name": "benign connective and soft tissue neoplasm"} {"id": "MONDO_0000661", "parentIds": ["EFO_0007136"], "name": "alexithymia"} {"id": "MONDO_0000665", "parentIds": ["MONDO_0024417"], "name": "apraxia"} +{"id": "MONDO_0000666", "parentIds": ["MONDO_0000685"], "name": "associative visual agnosia"} +{"id": "MONDO_0000667", "parentIds": ["MONDO_0024422", "EFO_0007136"], "name": "auditory agnosia"} +{"id": "MONDO_0000685", "parentIds": ["MONDO_0021084", "EFO_0007136"], "name": "visual agnosia"} {"id": "MONDO_0000688", "parentIds": ["MONDO_0004736"], "name": "inborn organic aciduria"} -{"id": "MONDO_0000698", "parentIds": ["MONDO_0019224", "MONDO_0004736"], "name": "gamma-amino butyric acid metabolism disorder"} -{"id": "MONDO_0000700", "parentIds": ["EFO_0000508", "MONDO_0018925"], "name": "familial hemiplegic migraine"} +{"id": "MONDO_0000698", "parentIds": ["MONDO_0004736", "MONDO_0045022", "MONDO_0019189"], "name": "gamma-amino butyric acid metabolism disorder"} +{"id": "MONDO_0000700", "parentIds": ["MONDO_0100545", "MONDO_0018925"], "name": "familial hemiplegic migraine"} {"id": "MONDO_0000701", "parentIds": ["EFO_0003872", "EFO_0004264"], "name": "ischemic colitis"} +{"id": "MONDO_0000708", "parentIds": ["MONDO_0021207", "MONDO_0000709"], "name": "Crohn jejunoileitis"} {"id": "MONDO_0000709", "parentIds": ["EFO_0005629"], "name": "Crohn ileitis"} +{"id": "MONDO_0000710", "parentIds": ["EFO_0005629", "MONDO_0004627", "EFO_0000217"], "name": "gastroduodenal Crohn disease"} +{"id": "MONDO_0000715", "parentIds": ["MONDO_0001082", "EFO_0000231"], "name": "lymph node adenoid cystic carcinoma"} {"id": "MONDO_0000721", "parentIds": ["EFO_0000589"], "name": "xanthinuria"} -{"id": "MONDO_0000722", "parentIds": ["MONDO_0019530", "MONDO_0021651", "MONDO_0011348"], "name": "non-syndromic synpolydactyly"} +{"id": "MONDO_0000722", "parentIds": ["MONDO_0019530", "MONDO_0021651"], "name": "non-syndromic synpolydactyly"} +{"id": "MONDO_0000723", "parentIds": ["MONDO_0004730", "MONDO_0100545", "MONDO_0004750"], "name": "stutter disorder"} {"id": "MONDO_0000726", "parentIds": ["EFO_0004273"], "name": "idiopathic scoliosis"} {"id": "MONDO_0000727", "parentIds": ["MONDO_0016830"], "name": "scapuloperoneal myopathy"} {"id": "MONDO_0000728", "parentIds": ["EFO_0003966"], "name": "ptosis"} @@ -1928,12 +2573,14 @@ {"id": "MONDO_0000761", "parentIds": ["MONDO_0019040"], "name": "syndrome caused by partial chromosomal deletion"} {"id": "MONDO_0000762", "parentIds": ["MONDO_0019040"], "name": "syndrome caused by partial chromosomal duplication"} {"id": "MONDO_0000763", "parentIds": ["MONDO_0018102"], "name": "epithelial and subepithelial corneal dystrophy"} -{"id": "MONDO_0000764", "parentIds": ["MONDO_0018102"], "name": "epithelial-stromal TGFBI dystrophy"} +{"id": "MONDO_0000764", "parentIds": ["EFO_0000508", "MONDO_0018102"], "name": "epithelial-stromal TGFBI dystrophy"} {"id": "MONDO_0000766", "parentIds": ["MONDO_0018102"], "name": "corneal endothelial dystrophy"} {"id": "MONDO_0000771", "parentIds": ["EFO_0000684", "MONDO_0005271"], "name": "allergic respiratory disease"} +{"id": "MONDO_0000774", "parentIds": ["EFO_0003100", "MONDO_0000590"], "name": "autoimmune neuropathy"} +{"id": "MONDO_0000777", "parentIds": ["MONDO_0005271"], "name": "gastrointestinal allergy"} {"id": "MONDO_0000812", "parentIds": ["EFO_0002461"], "name": "vertebral column disorder"} {"id": "MONDO_0000816", "parentIds": ["MONDO_0003916", "MONDO_0019052"], "name": "abdominal obesity-metabolic syndrome"} -{"id": "MONDO_0000819", "parentIds": ["EFO_0000508", "MONDO_0002320"], "name": "anencephaly"} +{"id": "MONDO_0000819", "parentIds": ["MONDO_0100545", "MONDO_0002320"], "name": "anencephaly"} {"id": "MONDO_0000820", "parentIds": ["MONDO_0002320"], "name": "cerebral cavernous malformation"} {"id": "MONDO_0000824", "parentIds": ["MONDO_0001673", "EFO_0000508"], "name": "congenital diarrhea"} {"id": "MONDO_0000827", "parentIds": ["MONDO_0000314"], "name": "salmonellosis"} @@ -1942,18 +2589,20 @@ {"id": "MONDO_0000833", "parentIds": ["EFO_0004260"], "name": "bone remodeling disease"} {"id": "MONDO_0000836", "parentIds": ["EFO_0004260"], "name": "disease of bone structure"} {"id": "MONDO_0000837", "parentIds": ["MONDO_0000833"], "name": "bone resorption disease"} -{"id": "MONDO_0000845", "parentIds": ["MONDO_0035682", "MONDO_0000833"], "name": "fibrous dysplasia"} -{"id": "MONDO_0000863", "parentIds": ["MONDO_0000577", "MONDO_0020099", "MONDO_0009637", "MONDO_0016387"], "name": "myopathy, lactic acidosis, and sideroblastic anemia"} +{"id": "MONDO_0000845", "parentIds": ["MONDO_0000833"], "name": "fibrous dysplasia"} +{"id": "MONDO_0000858", "parentIds": ["MONDO_0003409"], "name": "neuronal intestinal dysplasia"} +{"id": "MONDO_0000863", "parentIds": ["MONDO_0016387", "MONDO_0020099", "MONDO_0000577", "MONDO_0009637"], "name": "myopathy, lactic acidosis, and sideroblastic anemia"} {"id": "MONDO_0000866", "parentIds": ["EFO_0004145"], "name": "hereditary myoglobinuria"} -{"id": "MONDO_0000870", "parentIds": ["MONDO_0003659", "EFO_0000220", "MONDO_0004355"], "name": "childhood acute lymphoblastic leukemia"} +{"id": "MONDO_0000870", "parentIds": ["EFO_0000220", "MONDO_0003659", "MONDO_0004355"], "name": "childhood acute lymphoblastic leukemia"} {"id": "MONDO_0000873", "parentIds": ["EFO_0005952", "EFO_0009119"], "name": "lymphoblastic lymphoma"} {"id": "MONDO_0000879", "parentIds": ["MONDO_0002026", "EFO_0007510"], "name": "cutaneous candidiasis"} {"id": "MONDO_0000890", "parentIds": ["MONDO_0100120", "MONDO_0021669", "EFO_0000763"], "name": "Zika virus congenital syndrome"} {"id": "MONDO_0000892", "parentIds": ["MONDO_0020794", "EFO_1001949"], "name": "colon medullary carcinoma"} -{"id": "MONDO_0000894", "parentIds": ["EFO_0000308", "MONDO_0027772"], "name": "mucinous bronchioloalveolar adenocarcinoma"} -{"id": "MONDO_0000902", "parentIds": ["EFO_0005772"], "name": "agenesis of the corpus callosum with peripheral neuropathy"} -{"id": "MONDO_0000903", "parentIds": ["MONDO_0018329", "MONDO_0017651"], "name": "myoclonus-dystonia syndrome"} -{"id": "MONDO_0000904", "parentIds": ["EFO_0005774", "EFO_0000508", "MONDO_0045024"], "name": "complex cortical dysplasia with other brain malformations"} +{"id": "MONDO_0000894", "parentIds": ["MONDO_0027772", "EFO_0000308"], "name": "mucinous bronchioloalveolar adenocarcinoma"} +{"id": "MONDO_0000902", "parentIds": ["MONDO_0024237"], "name": "agenesis of the corpus callosum with peripheral neuropathy"} +{"id": "MONDO_0000903", "parentIds": ["MONDO_0020065"], "name": "myoclonus-dystonia syndrome"} +{"id": "MONDO_0000904", "parentIds": ["EFO_0005774", "MONDO_0100545"], "name": "complex cortical dysplasia with other brain malformations"} +{"id": "MONDO_0000914", "parentIds": ["MONDO_0007432"], "name": "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"} {"id": "MONDO_0000916", "parentIds": ["MONDO_0043424", "EFO_1001463"], "name": "intestinal infectious disease"} {"id": "MONDO_0000919", "parentIds": ["MONDO_0000920", "MONDO_0000921", "MONDO_0021321"], "name": "ampulla of vater cancer"} {"id": "MONDO_0000920", "parentIds": ["MONDO_0000956", "MONDO_0021375"], "name": "duodenum cancer"} @@ -1961,41 +2610,87 @@ {"id": "MONDO_0000923", "parentIds": ["EFO_0000464"], "name": "interstitial emphysema"} {"id": "MONDO_0000924", "parentIds": ["EFO_0000464"], "name": "compensatory emphysema"} {"id": "MONDO_0000926", "parentIds": ["EFO_0003966"], "name": "eye accommodation disease"} +{"id": "MONDO_0000928", "parentIds": ["EFO_1000403", "MONDO_0021313", "EFO_0000389"], "name": "eyelid melanoma"} {"id": "MONDO_0000931", "parentIds": ["MONDO_0002654"], "name": "endometrial disorder"} +{"id": "MONDO_0000934", "parentIds": ["MONDO_0001572", "MONDO_0002354"], "name": "laryngeal leiomyoma"} +{"id": "MONDO_0000935", "parentIds": ["MONDO_0002354", "EFO_1001970"], "name": "larynx squamous papilloma"} +{"id": "MONDO_0000936", "parentIds": ["MONDO_0041825", "EFO_1001217"], "name": "syphilitic meningitis"} +{"id": "MONDO_0000937", "parentIds": ["EFO_1001217", "MONDO_0020067"], "name": "syphilitic encephalitis"} +{"id": "MONDO_0000938", "parentIds": ["MONDO_0001572", "MONDO_0021449"], "name": "gastric leiomyoma"} +{"id": "MONDO_0000941", "parentIds": ["EFO_0009547", "MONDO_0004884"], "name": "eyelid degenerative disorder"} {"id": "MONDO_0000944", "parentIds": ["EFO_0003763", "MONDO_0020673"], "name": "cerebral artery occlusion"} {"id": "MONDO_0000945", "parentIds": ["MONDO_0020674", "MONDO_0004634"], "name": "venous insufficiency"} +{"id": "MONDO_0000947", "parentIds": ["EFO_0000677", "MONDO_0000595"], "name": "psychosexual disorder"} {"id": "MONDO_0000949", "parentIds": ["EFO_1000203"], "name": "conjunctival degeneration"} {"id": "MONDO_0000952", "parentIds": ["MONDO_0024311"], "name": "cancer of long bone of lower limb"} +{"id": "MONDO_0000955", "parentIds": ["MONDO_0000956", "EFO_1000981"], "name": "ileum cancer"} {"id": "MONDO_0000956", "parentIds": ["MONDO_0004251", "EFO_0007330"], "name": "small intestine cancer"} {"id": "MONDO_0000959", "parentIds": ["EFO_1001031", "MONDO_0024633"], "name": "malignant hypertensive renal disease"} {"id": "MONDO_0000962", "parentIds": ["EFO_0000705", "EFO_0000759"], "name": "spindle cell lipoma"} +{"id": "MONDO_0000963", "parentIds": ["MONDO_0021459", "EFO_0000759"], "name": "esophageal lipoma"} +{"id": "MONDO_0000964", "parentIds": ["MONDO_0021440", "EFO_0000759"], "name": "skin lipoma"} +{"id": "MONDO_0000965", "parentIds": ["MONDO_0859689", "MONDO_0024477", "EFO_0000759", "MONDO_0000627"], "name": "liver lipoma"} +{"id": "MONDO_0000968", "parentIds": ["EFO_0000759", "MONDO_0002513"], "name": "kidney lipoma"} +{"id": "MONDO_0000969", "parentIds": ["MONDO_0021457", "EFO_0000759"], "name": "pleural lipoma"} +{"id": "MONDO_0000970", "parentIds": ["EFO_0000759", "MONDO_0000620"], "name": "breast lipoma"} +{"id": "MONDO_0000972", "parentIds": ["MONDO_0021503", "EFO_0000759", "MONDO_0000965"], "name": "gallbladder lipoma"} +{"id": "MONDO_0000973", "parentIds": ["MONDO_0021474", "MONDO_0021235", "EFO_0000759"], "name": "external ear lipoma"} +{"id": "MONDO_0000978", "parentIds": ["MONDO_0000965", "MONDO_0021385"], "name": "extrahepatic bile duct lipoma"} +{"id": "MONDO_0000980", "parentIds": ["EFO_0005775", "EFO_0003914"], "name": "aortic atherosclerosis"} +{"id": "MONDO_0000981", "parentIds": ["EFO_0007427", "EFO_0007310"], "name": "Histoplasma pericarditis"} {"id": "MONDO_0000988", "parentIds": ["EFO_1001455"], "name": "discharging ear"} {"id": "MONDO_0000992", "parentIds": ["EFO_0003777"], "name": "heart conduction disease"} -{"id": "MONDO_0000995", "parentIds": ["MONDO_0004689", "MONDO_0016122"], "name": "familial periodic paralysis"} +{"id": "MONDO_0000993", "parentIds": ["EFO_0000707", "EFO_0001663"], "name": "prostate squamous cell carcinoma"} +{"id": "MONDO_0000995", "parentIds": ["MONDO_0100545", "MONDO_0016122", "MONDO_0004689"], "name": "familial periodic paralysis"} +{"id": "MONDO_0000996", "parentIds": ["MONDO_0008315", "EFO_0000574"], "name": "prostate lymphoma"} +{"id": "MONDO_0001007", "parentIds": ["MONDO_0021108"], "name": "chronic meningitis"} {"id": "MONDO_0001014", "parentIds": ["EFO_0000565"], "name": "chronic leukemia"} {"id": "MONDO_0001020", "parentIds": ["MONDO_0021084"], "name": "amblyopia"} {"id": "MONDO_0001023", "parentIds": ["EFO_0000220", "MONDO_0001014"], "name": "prolymphocytic leukemia"} +{"id": "MONDO_0001024", "parentIds": ["EFO_0003818", "MONDO_0024355", "EFO_0009425"], "name": "pneumonic plague"} +{"id": "MONDO_0001028", "parentIds": ["EFO_0000649"], "name": "acute pericementitis"} {"id": "MONDO_0001029", "parentIds": ["EFO_0009676", "EFO_0000508"], "name": "Klippel-Feil syndrome"} -{"id": "MONDO_0001040", "parentIds": ["MONDO_0004821"], "name": "nasopharyngitis"} +{"id": "MONDO_0001031", "parentIds": ["EFO_0007503"], "name": "purulent acute otitis media"} +{"id": "MONDO_0001039", "parentIds": ["MONDO_0004867", "MONDO_0044986", "MONDO_0020592", "EFO_0010282"], "name": "tonsillitis"} +{"id": "MONDO_0001040", "parentIds": ["EFO_0010282", "MONDO_0004821"], "name": "nasopharyngitis"} +{"id": "MONDO_0001042", "parentIds": ["MONDO_0004857"], "name": "patellar tendinitis"} {"id": "MONDO_0001045", "parentIds": ["EFO_0009431"], "name": "intestinal atresia"} +{"id": "MONDO_0001051", "parentIds": ["EFO_0009560"], "name": "acute otitis externa"} +{"id": "MONDO_0001052", "parentIds": ["MONDO_0000262"], "name": "chronic fungal otitis externa"} {"id": "MONDO_0001056", "parentIds": ["EFO_0003897", "MONDO_0002516"], "name": "gastric cancer"} -{"id": "MONDO_0001059", "parentIds": ["MONDO_0018502", "MONDO_0004699", "MONDO_0001056"], "name": "gastric lymphoma"} +{"id": "MONDO_0001059", "parentIds": ["MONDO_0004699", "MONDO_0001056"], "name": "gastric lymphoma"} {"id": "MONDO_0001063", "parentIds": ["MONDO_0001056"], "name": "cardia cancer"} +{"id": "MONDO_0001064", "parentIds": ["MONDO_0002172"], "name": "acute eustachian salpingitis"} +{"id": "MONDO_0001074", "parentIds": ["MONDO_0002420", "EFO_0004280"], "name": "chronic tic disorder"} {"id": "MONDO_0001078", "parentIds": ["EFO_0009554"], "name": "tropical sprue"} +{"id": "MONDO_0001080", "parentIds": ["MONDO_0021157", "MONDO_0001081"], "name": "acute gonococcal cervicitis"} +{"id": "MONDO_0001081", "parentIds": ["MONDO_0002345"], "name": "acute cervicitis"} {"id": "MONDO_0001082", "parentIds": ["MONDO_0000612", "MONDO_0024339"], "name": "lymph node cancer"} {"id": "MONDO_0001083", "parentIds": ["EFO_1000647", "EFO_0009566"], "name": "Fanconi renotubular syndrome"} {"id": "MONDO_0001084", "parentIds": ["MONDO_0003608"], "name": "primary optic atrophy"} {"id": "MONDO_0001085", "parentIds": ["EFO_1002050"], "name": "interstitial nephritis"} {"id": "MONDO_0001087", "parentIds": ["MONDO_0002028"], "name": "schizotypal personality disorder"} +{"id": "MONDO_0001090", "parentIds": ["EFO_1000812", "EFO_0008583"], "name": "acute anterolateral myocardial infarction"} +{"id": "MONDO_0001091", "parentIds": ["MONDO_0003885", "MONDO_0002278"], "name": "lipoma of colon"} +{"id": "MONDO_0001092", "parentIds": ["MONDO_0003299", "MONDO_0002278"], "name": "colon leiomyoma"} +{"id": "MONDO_0001093", "parentIds": ["MONDO_0002013", "MONDO_0002278", "MONDO_0024479"], "name": "colonic lymphangioma"} +{"id": "MONDO_0001096", "parentIds": ["MONDO_0003327", "EFO_1000367"], "name": "mediastinum ganglioneuroblastoma"} {"id": "MONDO_0001104", "parentIds": ["EFO_0009189"], "name": "toxic diffuse goiter"} +{"id": "MONDO_0001108", "parentIds": ["MONDO_0001351", "MONDO_0000637", "MONDO_0045043"], "name": "broad ligament malignant neoplasm"} {"id": "MONDO_0001110", "parentIds": ["EFO_0003884", "EFO_1001141"], "name": "chronic pyelonephritis"} +{"id": "MONDO_0001112", "parentIds": ["EFO_0009425", "EFO_0007352"], "name": "bubonic plague"} +{"id": "MONDO_0001114", "parentIds": ["EFO_0009609"], "name": "bacterial myocarditis"} {"id": "MONDO_0001115", "parentIds": ["EFO_0000508", "EFO_0005804"], "name": "familial polycythemia"} {"id": "MONDO_0001117", "parentIds": ["MONDO_0044348"], "name": "methemoglobinemia"} +{"id": "MONDO_0001122", "parentIds": ["EFO_1000024", "EFO_0007361"], "name": "chronic maxillary sinusitis"} +{"id": "MONDO_0001123", "parentIds": ["EFO_0007489", "EFO_1000024"], "name": "chronic sphenoidal sinusitis"} {"id": "MONDO_0001128", "parentIds": ["EFO_0006859", "MONDO_0004756", "MONDO_0000649", "MONDO_0000376"], "name": "nasal cavity cancer"} +{"id": "MONDO_0001129", "parentIds": ["MONDO_0001128", "EFO_1000407"], "name": "nasal cavity olfactory neuroblastoma"} +{"id": "MONDO_0001130", "parentIds": ["MONDO_0001128", "EFO_0000574"], "name": "nasal cavity lymphoma"} {"id": "MONDO_0001134", "parentIds": ["EFO_0000537", "MONDO_0005044"], "name": "essential hypertension"} {"id": "MONDO_0001146", "parentIds": ["EFO_1001220", "EFO_0009489"], "name": "fourth cranial nerve palsy"} {"id": "MONDO_0001147", "parentIds": ["MONDO_0002320"], "name": "meningocele"} -{"id": "MONDO_0001149", "parentIds": ["MONDO_0016054", "EFO_0010642"], "name": "microcephaly"} +{"id": "MONDO_0001149", "parentIds": ["EFO_0010642"], "name": "microcephaly"} {"id": "MONDO_0001152", "parentIds": ["MONDO_0002039"], "name": "amnestic disorder"} {"id": "MONDO_0001157", "parentIds": ["MONDO_0002028"], "name": "dependent personality disorder"} {"id": "MONDO_0001160", "parentIds": ["MONDO_0002025"], "name": "dissociative disorder"} @@ -2004,35 +2699,53 @@ {"id": "MONDO_0001163", "parentIds": ["MONDO_0002028"], "name": "paranoid personality disorder"} {"id": "MONDO_0001165", "parentIds": ["EFO_1001047"], "name": "tongue disorder"} {"id": "MONDO_0001169", "parentIds": ["MONDO_0000396"], "name": "spastic monoplegia"} +{"id": "MONDO_0001171", "parentIds": ["MONDO_0001172", "MONDO_0001173"], "name": "acute salpingo-oophoritis"} +{"id": "MONDO_0001172", "parentIds": ["MONDO_0003619", "EFO_1001071"], "name": "salpingo-oophoritis"} +{"id": "MONDO_0001173", "parentIds": ["MONDO_0003619"], "name": "acute salpingitis"} {"id": "MONDO_0001174", "parentIds": ["EFO_1000203", "EFO_0005753"], "name": "conjunctival vascular disorder"} {"id": "MONDO_0001182", "parentIds": ["EFO_1000879"], "name": "idiopathic corneal edema"} +{"id": "MONDO_0001184", "parentIds": ["EFO_0003884", "MONDO_0017236"], "name": "chronic rapidly progressive glomerulonephritis"} +{"id": "MONDO_0001185", "parentIds": ["MONDO_0001160"], "name": "dissociative amnesia"} {"id": "MONDO_0001187", "parentIds": ["EFO_0000294", "EFO_1000363"], "name": "urinary bladder cancer"} +{"id": "MONDO_0001188", "parentIds": ["MONDO_0004699", "MONDO_0007576"], "name": "esophagus lymphoma"} +{"id": "MONDO_0001192", "parentIds": ["MONDO_0007576", "MONDO_0045070"], "name": "esophageal melanoma"} {"id": "MONDO_0001197", "parentIds": ["MONDO_0002245"], "name": "qualitative platelet defect"} {"id": "MONDO_0001198", "parentIds": ["MONDO_0002245"], "name": "acquired thrombocytopenia"} +{"id": "MONDO_0001204", "parentIds": ["MONDO_0007576", "EFO_1001968"], "name": "esophagus sarcoma"} {"id": "MONDO_0001208", "parentIds": ["EFO_0009686"], "name": "acute respiratory failure"} {"id": "MONDO_0001212", "parentIds": ["EFO_0004992"], "name": "non-suppurative otitis media"} {"id": "MONDO_0001214", "parentIds": ["EFO_0009450"], "name": "acute conjunctivitis"} {"id": "MONDO_0001222", "parentIds": ["MONDO_0003780"], "name": "congenital T-cell immunodeficiency"} +{"id": "MONDO_0001227", "parentIds": ["MONDO_0021204", "MONDO_0024616"], "name": "chronic tympanitis"} +{"id": "MONDO_0001229", "parentIds": ["MONDO_0024635", "MONDO_0004235"], "name": "small intestine diverticulitis"} {"id": "MONDO_0001230", "parentIds": ["MONDO_0004751"], "name": "acute orbital inflammation"} {"id": "MONDO_0001235", "parentIds": ["EFO_0003880", "MONDO_0002033"], "name": "appendix cancer"} +{"id": "MONDO_0001237", "parentIds": ["MONDO_0002034", "MONDO_0001235"], "name": "appendix lymphoma"} {"id": "MONDO_0001240", "parentIds": ["MONDO_0002280", "EFO_0010238"], "name": "neonatal anemia"} {"id": "MONDO_0001245", "parentIds": ["MONDO_0002280"], "name": "microcytic anemia"} +{"id": "MONDO_0001251", "parentIds": ["EFO_1001391", "EFO_0006343"], "name": "chronic apical periodontitis"} {"id": "MONDO_0001256", "parentIds": ["EFO_1000635"], "name": "arteriovenous hemangioma/malformation"} {"id": "MONDO_0001259", "parentIds": ["MONDO_0002721"], "name": "pituitary gland infarction"} {"id": "MONDO_0001269", "parentIds": ["EFO_0003966"], "name": "scleral disorder"} +{"id": "MONDO_0001275", "parentIds": ["MONDO_0001279", "EFO_0003828"], "name": "spinal meningioma"} +{"id": "MONDO_0001277", "parentIds": ["EFO_0009011", "EFO_0003763", "MONDO_0003346"], "name": "cerebral arteritis"} +{"id": "MONDO_0001279", "parentIds": ["MONDO_0016642"], "name": "intraspinal meningioma"} {"id": "MONDO_0001280", "parentIds": ["EFO_0006803", "MONDO_0001898", "EFO_1001119"], "name": "choroiditis"} {"id": "MONDO_0001282", "parentIds": ["EFO_0009548", "EFO_0001065"], "name": "fallopian tube endometriosis"} +{"id": "MONDO_0001284", "parentIds": ["EFO_0001065", "EFO_0009431"], "name": "endometriosis of intestine"} {"id": "MONDO_0001285", "parentIds": ["EFO_0001065"], "name": "endometriosis of pelvic peritoneum"} {"id": "MONDO_0001288", "parentIds": ["EFO_0001065"], "name": "endometriosis of rectovaginal septum and vagina"} +{"id": "MONDO_0001290", "parentIds": ["EFO_1000974", "MONDO_0020576", "EFO_0000274"], "name": "allergic cutaneous vasculitis"} {"id": "MONDO_0001291", "parentIds": ["EFO_0005774"], "name": "brain compression"} {"id": "MONDO_0001294", "parentIds": ["MONDO_0001300"], "name": "Horner syndrome"} -{"id": "MONDO_0001296", "parentIds": ["MONDO_0004588", "EFO_1001067", "EFO_1000639"], "name": "acquired night blindness"} +{"id": "MONDO_0001296", "parentIds": ["MONDO_0004588", "EFO_1001067"], "name": "acquired night blindness"} +{"id": "MONDO_0001298", "parentIds": ["EFO_0009557", "MONDO_0020674"], "name": "congenital mitral valve insufficiency"} {"id": "MONDO_0001299", "parentIds": ["MONDO_0001300", "EFO_1000783"], "name": "diabetic autonomic neuropathy"} {"id": "MONDO_0001300", "parentIds": ["EFO_0003100", "EFO_0009532"], "name": "autonomic neuropathy"} {"id": "MONDO_0001302", "parentIds": ["EFO_0003777"], "name": "hypertensive heart disease"} {"id": "MONDO_0001308", "parentIds": ["EFO_0009464"], "name": "corneal deposit"} -{"id": "MONDO_0001309", "parentIds": ["EFO_0009489", "MONDO_0015368", "MONDO_0003546"], "name": "oculomotor nerve paralysis"} -{"id": "MONDO_0001314", "parentIds": ["EFO_0005856", "EFO_0000589"], "name": "chondrocalcinosis"} +{"id": "MONDO_0001309", "parentIds": ["MONDO_0024458", "EFO_0009489", "MONDO_0003546"], "name": "oculomotor nerve paralysis"} +{"id": "MONDO_0001314", "parentIds": ["EFO_0005856", "MONDO_0800486", "EFO_0000589"], "name": "chondrocalcinosis"} {"id": "MONDO_0001316", "parentIds": ["EFO_1000831", "EFO_1001476"], "name": "streptococcal meningitis"} {"id": "MONDO_0001318", "parentIds": ["EFO_0009608"], "name": "functional gastric disease"} {"id": "MONDO_0001322", "parentIds": ["MONDO_0021381", "MONDO_0001340"], "name": "pericardium cancer"} @@ -2042,26 +2755,41 @@ {"id": "MONDO_0001331", "parentIds": ["EFO_1000203"], "name": "conjunctival deposit"} {"id": "MONDO_0001332", "parentIds": ["MONDO_0003366", "EFO_0005755"], "name": "palindromic rheumatism"} {"id": "MONDO_0001334", "parentIds": ["EFO_0009547", "MONDO_0019280"], "name": "hypertrichosis of eyelid"} +{"id": "MONDO_0001335", "parentIds": ["MONDO_0003037", "EFO_0009547"], "name": "hypotrichosis of eyelid"} {"id": "MONDO_0001336", "parentIds": ["MONDO_0002525", "MONDO_0021187"], "name": "familial hyperlipidemia"} {"id": "MONDO_0001340", "parentIds": ["MONDO_0003274", "EFO_1001339", "MONDO_0002100"], "name": "heart cancer"} {"id": "MONDO_0001342", "parentIds": ["MONDO_0003739"], "name": "dysgammaglobulinemia"} {"id": "MONDO_0001343", "parentIds": ["EFO_0003086"], "name": "impaired renal function disease"} {"id": "MONDO_0001347", "parentIds": ["MONDO_0100137", "MONDO_0016106"], "name": "facioscapulohumeral muscular dystrophy"} +{"id": "MONDO_0001350", "parentIds": ["MONDO_0001108"], "name": "parametrium malignant neoplasm"} 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"MONDO_0001387", "parentIds": ["EFO_1001968", "MONDO_0001325"], "name": "penile sarcoma"} +{"id": "MONDO_0001388", "parentIds": ["MONDO_0001325"], "name": "glans penis cancer"} +{"id": "MONDO_0001398", "parentIds": ["EFO_0003844", "MONDO_0002513", "MONDO_0004180"], "name": "ureter benign neoplasm"} +{"id": "MONDO_0001399", "parentIds": ["MONDO_0001398", "MONDO_0001572", "EFO_1000050"], "name": "ureter leiomyoma"} +{"id": "MONDO_0001400", "parentIds": ["MONDO_0000638", "MONDO_0001398", "MONDO_0056804", "MONDO_0004820"], "name": "schwannoma of ureter"} {"id": "MONDO_0001402", "parentIds": ["EFO_1001331", "EFO_1001447"], "name": "vaginal cancer"} {"id": "MONDO_0001407", "parentIds": ["MONDO_0000376", "EFO_1001437"], "name": "tracheal cancer"} {"id": "MONDO_0001409", "parentIds": ["EFO_0009544"], "name": "esophagitis"} {"id": "MONDO_0001410", "parentIds": ["MONDO_0002234"], "name": "postmenopausal atrophic vaginitis"} {"id": "MONDO_0001414", "parentIds": ["MONDO_0002933"], "name": "osteopoikilosis"} -{"id": "MONDO_0001422", "parentIds": ["EFO_0005539"], "name": "primary aldosteronism"} +{"id": "MONDO_0001417", "parentIds": ["MONDO_0001407", "EFO_0000574"], "name": "tracheal lymphoma"} +{"id": "MONDO_0001418", "parentIds": ["EFO_1001968", "MONDO_0001407"], "name": "trachea sarcoma"} +{"id": "MONDO_0001420", "parentIds": ["MONDO_0002633", "EFO_0009569"], "name": "trigeminal nerve neoplasm"} +{"id": "MONDO_0001421", "parentIds": ["MONDO_0021374"], "name": "frontal lobe neoplasm"} +{"id": "MONDO_0001422", "parentIds": ["EFO_0009452"], "name": "primary aldosteronism"} {"id": "MONDO_0001423", "parentIds": ["EFO_0000677"], "name": "drug-induced mental disorder"} +{"id": "MONDO_0001429", "parentIds": ["EFO_1000999"], "name": "transient arthropathy"} {"id": "MONDO_0001433", "parentIds": ["EFO_0009549"], "name": "vaginal disorder"} {"id": "MONDO_0001434", "parentIds": ["MONDO_0003937"], "name": "inflammatory spondylopathy"} {"id": "MONDO_0001436", "parentIds": ["MONDO_0002279"], "name": "hemosiderosis"} @@ -2070,28 +2798,37 @@ {"id": "MONDO_0001444", "parentIds": ["MONDO_0100120", "DOID_10113"], "name": "Chagas disease"} {"id": "MONDO_0001458", "parentIds": ["MONDO_0024334", "EFO_1001224"], "name": "ulnar nerve lesion"} {"id": "MONDO_0001459", "parentIds": ["EFO_1000844", "EFO_0009558"], "name": "radial neuropathy"} +{"id": "MONDO_0001464", "parentIds": ["MONDO_0021063", "EFO_1001181"], "name": "sigmoid colon cancer"} +{"id": "MONDO_0001468", "parentIds": ["EFO_1000999", "MONDO_0056799"], "name": "synovial plica syndrome"} +{"id": "MONDO_0001474", "parentIds": ["MONDO_0001172", "MONDO_0003617"], "name": "chronic salpingo-oophoritis"} {"id": "MONDO_0001475", "parentIds": ["MONDO_0004805"], "name": "neutropenia"} {"id": "MONDO_0001476", "parentIds": ["EFO_0003966"], "name": "coloboma"} {"id": "MONDO_0001487", "parentIds": ["MONDO_0003059"], "name": "intrahepatic bile duct cancer"} {"id": "MONDO_0001493", "parentIds": ["MONDO_0004596"], "name": "chronic pulmonary heart disease"} {"id": "MONDO_0001498", "parentIds": ["MONDO_0004869", "MONDO_0045003"], "name": "varicocele"} +{"id": "MONDO_0001499", "parentIds": ["EFO_0000574", "EFO_0007466"], "name": "retroperitoneal lymphoma"} +{"id": "MONDO_0001501", "parentIds": ["EFO_1001968", "EFO_0007466"], "name": "retroperitoneal sarcoma"} {"id": "MONDO_0001502", "parentIds": ["EFO_0007466", "EFO_0000313"], "name": "retroperitoneum carcinoma"} +{"id": "MONDO_0001506", "parentIds": ["EFO_1000025", "MONDO_0005247", "EFO_0003830"], "name": "prostatocystitis"} +{"id": "MONDO_0001507", "parentIds": ["MONDO_0020010", "MONDO_0021666", "EFO_0009604", "EFO_0000763"], "name": "viral labyrinthitis"} {"id": "MONDO_0001515", "parentIds": ["EFO_0009464"], "name": "corneal degeneration"} {"id": "MONDO_0001519", "parentIds": ["EFO_0009547"], "name": "entropion"} {"id": "MONDO_0001528", "parentIds": ["MONDO_0021049", "EFO_1001331"], "name": "vulva cancer"} {"id": "MONDO_0001530", "parentIds": ["MONDO_0001343", "EFO_1001173"], "name": "secondary hyperparathyroidism of renal origin"} +{"id": "MONDO_0001536", "parentIds": ["MONDO_0000647", "MONDO_0001572"], "name": "vaginal leiomyoma"} +{"id": "MONDO_0001538", "parentIds": ["EFO_0003839", "MONDO_0043218", "MONDO_0005053"], "name": "retinal ischemia"} {"id": "MONDO_0001539", "parentIds": ["EFO_0005773"], "name": "retinal perforation"} {"id": "MONDO_0001543", "parentIds": ["EFO_1001166", "MONDO_0001829", "MONDO_0024334"], "name": "lesion of sciatic nerve"} {"id": "MONDO_0001549", "parentIds": ["EFO_0009314"], "name": "hemolytic-uremic syndrome"} {"id": "MONDO_0001551", "parentIds": ["MONDO_0002187"], "name": "ulceration of vulva"} {"id": "MONDO_0001554", "parentIds": ["MONDO_0005041"], "name": "phacogenic glaucoma"} {"id": "MONDO_0001557", "parentIds": ["MONDO_0002471", "EFO_0009666"], "name": "olecranon bursitis"} -{"id": "MONDO_0001558", "parentIds": ["EFO_0007401"], "name": "Potter sequence"} {"id": "MONDO_0001563", "parentIds": ["EFO_0009387", "MONDO_0003569", "MONDO_0002453"], "name": "vestibulocochlear nerve disorder"} {"id": "MONDO_0001566", "parentIds": ["EFO_0005769"], "name": "hypercalcemia disease"} {"id": "MONDO_0001567", "parentIds": ["MONDO_0002123", "EFO_0003086"], "name": "nephrocalcinosis"} {"id": "MONDO_0001572", "parentIds": ["EFO_1000121"], "name": "leiomyoma"} {"id": "MONDO_0001574", "parentIds": ["EFO_0004264"], "name": "capillary disorder"} +{"id": "MONDO_0001575", "parentIds": ["MONDO_0021159", "MONDO_0003617"], "name": "chronic gonococcal salpingitis"} {"id": "MONDO_0001576", "parentIds": ["MONDO_0021658", "EFO_0003875"], "name": "telangiectasis"} {"id": "MONDO_0001580", "parentIds": ["MONDO_0002460"], "name": "lacrimal duct cancer"} {"id": "MONDO_0001583", "parentIds": ["EFO_1000783"], "name": "diabetic polyneuropathy"} @@ -2099,81 +2836,135 @@ {"id": "MONDO_0001592", "parentIds": ["EFO_0009549"], "name": "prolapse of female genital organ"} {"id": "MONDO_0001597", "parentIds": ["EFO_0008581"], "name": "submandibular gland disorder"} {"id": "MONDO_0001604", "parentIds": ["EFO_0009547"], "name": "lagophthalmos"} +{"id": "MONDO_0001606", "parentIds": ["EFO_0000565", "MONDO_0003641"], "name": "central nervous system leukemia"} +{"id": "MONDO_0001615", "parentIds": ["MONDO_0023865", "EFO_0008571", "MONDO_0043479", "MONDO_0004768"], "name": "epidemic keratoconjunctivitis"} {"id": "MONDO_0001618", "parentIds": ["EFO_1000833", "MONDO_0021164"], "name": "balanoposthitis"} +{"id": "MONDO_0001624", "parentIds": ["EFO_0007489"], "name": "acute sphenoidal sinusitis"} {"id": "MONDO_0001627", "parentIds": ["MONDO_0002039"], "name": "dementia"} +{"id": "MONDO_0001628", "parentIds": ["MONDO_0024487", "MONDO_0004678"], "name": "tinea unguium"} +{"id": "MONDO_0001634", "parentIds": ["MONDO_0000384", "MONDO_0001572"], "name": "bladder leiomyoma"} {"id": "MONDO_0001639", "parentIds": ["MONDO_0002280"], "name": "deficiency anemia"} +{"id": "MONDO_0001640", "parentIds": ["DOID_7551", "MONDO_0003937"], "name": "gonococcal spondylitis"} {"id": "MONDO_0001641", "parentIds": ["EFO_0000668"], "name": "severe pre-eclampsia"} +{"id": "MONDO_0001644", "parentIds": ["MONDO_0003134"], "name": "acute proliferative glomerulonephritis"} +{"id": "MONDO_0001645", "parentIds": ["MONDO_0001644"], "name": "crescentic glomerulonephritis"} +{"id": "MONDO_0001649", "parentIds": ["MONDO_0043424", "MONDO_0002041", "MONDO_0100120", "MONDO_0001409"], "name": "fungal esophagitis"} +{"id": "MONDO_0001650", "parentIds": ["EFO_1000025", "MONDO_0005247"], "name": "acute cystitis"} +{"id": "MONDO_0001651", "parentIds": ["MONDO_0002650", "EFO_0000707"], "name": "scrotum squamous cell carcinoma"} +{"id": "MONDO_0001652", "parentIds": ["EFO_0000756", "MONDO_0003319"], "name": "scrotum melanoma"} {"id": "MONDO_0001657", "parentIds": ["EFO_0000326", "EFO_0003833"], "name": "brain cancer"} {"id": "MONDO_0001658", "parentIds": ["EFO_0004283"], "name": "nontoxic goiter"} 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manuum"} {"id": "MONDO_0001700", "parentIds": ["MONDO_0002281"], "name": "megaloblastic anemia"} +{"id": "MONDO_0001701", "parentIds": ["EFO_0000778"], "name": "gastrointestinal anthrax"} {"id": "MONDO_0001703", "parentIds": ["MONDO_0001941"], "name": "color vision disorder"} {"id": "MONDO_0001704", "parentIds": ["MONDO_0024276", "EFO_1001447"], "name": "vaginal glandular neoplasm"} {"id": "MONDO_0001705", "parentIds": ["MONDO_0002280"], "name": "pure red-cell aplasia"} -{"id": "MONDO_0001713", "parentIds": ["EFO_0000508", "MONDO_0015909"], "name": "inherited aplastic anemia"} +{"id": "MONDO_0001706", "parentIds": ["MONDO_0045047", "EFO_0005774"], "name": "cerebral sarcoidosis"} +{"id": "MONDO_0001707", "parentIds": ["EFO_1001473", "MONDO_0019338"], "name": "cardiac sarcoidosis"} +{"id": "MONDO_0001709", "parentIds": ["MONDO_0019338"], "name": "hypercalcemic sarcoidosis"} +{"id": "MONDO_0001713", "parentIds": ["MONDO_0015909", "EFO_0000508"], "name": "inherited aplastic anemia"} {"id": "MONDO_0001718", "parentIds": ["MONDO_0001269"], "name": "scleritis"} +{"id": "MONDO_0001719", "parentIds": ["DOID_7551", "MONDO_0002471"], "name": "gonococcal bursitis"} +{"id": "MONDO_0001720", "parentIds": ["EFO_0008997", "MONDO_0041903"], "name": "gonococcal synovitis"} {"id": "MONDO_0001721", "parentIds": ["EFO_0009689"], "name": "urethral intrinsic sphincter deficiency"} {"id": "MONDO_0001724", "parentIds": ["EFO_1000354", "MONDO_0004427"], "name": "supraglottis cancer"} {"id": "MONDO_0001730", "parentIds": ["EFO_0009689"], "name": "urethral syndrome"} -{"id": "MONDO_0001734", "parentIds": ["MONDO_0042983", "MONDO_0015356", "MONDO_0000426"], "name": "tuberous sclerosis"} +{"id": "MONDO_0001734", "parentIds": ["MONDO_0042983", "MONDO_0015356", "MONDO_0000426", "MONDO_0100545"], "name": "tuberous sclerosis"} +{"id": "MONDO_0001740", "parentIds": ["MONDO_0002466", "EFO_0000181", "MONDO_0003802"], "name": "cornea squamous cell carcinoma"} +{"id": "MONDO_0001743", "parentIds": 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"parentIds": ["EFO_1000999"], "name": "hypermobility syndrome"} {"id": "MONDO_0001806", "parentIds": ["EFO_1001447", "MONDO_0002532"], "name": "vaginal squamous tumor"} {"id": "MONDO_0001812", "parentIds": ["EFO_0009536", "MONDO_0020947"], "name": "parasitic eyelid infestation"} {"id": "MONDO_0001815", "parentIds": ["EFO_0004280"], "name": "extrapyramidal and movement disease"} +{"id": "MONDO_0001816", "parentIds": ["EFO_0009449", "MONDO_0001718"], "name": "scleroperikeratitis"} +{"id": "MONDO_0001817", "parentIds": ["EFO_1001506"], "name": "acute closed-angle glaucoma"} {"id": "MONDO_0001822", "parentIds": ["MONDO_0002525"], "name": "hypolipoproteinemia"} {"id": "MONDO_0001823", "parentIds": ["MONDO_0000469"], "name": "sick sinus syndrome"} {"id": "MONDO_0001828", "parentIds": ["MONDO_0001703"], "name": "acquired color blindness"} {"id": "MONDO_0001829", "parentIds": ["EFO_0009559"], "name": "lumbosacral plexus lesion"} +{"id": "MONDO_0001832", "parentIds": ["MONDO_0001409", 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"name": "algoneurodystrophy"} +{"id": "MONDO_0001876", "parentIds": ["MONDO_0002286", "MONDO_0000980"], "name": "renal artery atheroma"} {"id": "MONDO_0001878", "parentIds": ["EFO_0004707"], "name": "acquired hypertrophic pyloric stenosis"} {"id": "MONDO_0001879", "parentIds": ["EFO_1000657", "EFO_0003835"], "name": "anus cancer"} +{"id": "MONDO_0001884", "parentIds": ["MONDO_0002633", "MONDO_0020594"], "name": "abducens nerve neoplasm"} +{"id": "MONDO_0001888", "parentIds": ["MONDO_0001879", "MONDO_0002166"], "name": "anus lymphoma"} +{"id": "MONDO_0001892", "parentIds": ["EFO_1000157", "MONDO_0003544"], "name": "spinal cord lymphoma"} +{"id": "MONDO_0001893", "parentIds": ["MONDO_0003544", "MONDO_0016747"], "name": "spinal cord melanoma"} +{"id": "MONDO_0001894", "parentIds": ["MONDO_0003544", "MONDO_0002217"], "name": "spinal cord sarcoma"} {"id": "MONDO_0001896", "parentIds": ["EFO_0005774"], "name": "obstructive hydrocephalus"} {"id": "MONDO_0001898", "parentIds": 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"MONDO_0024389"], "name": "anaerobic meningitis"} {"id": "MONDO_0002003", "parentIds": ["MONDO_0002135"], "name": "papilledema"} +{"id": "MONDO_0002004", "parentIds": ["EFO_0005801", "EFO_0003086"], "name": "atheroembolism of kidney"} {"id": "MONDO_0002009", "parentIds": ["MONDO_0002050"], "name": "major depressive disorder"} {"id": "MONDO_0002012", "parentIds": ["MONDO_0000688"], "name": "methylmalonic acidemia"} -{"id": "MONDO_0002013", "parentIds": ["MONDO_0036976", "MONDO_0036870", "MONDO_0000629"], "name": "lymphangioma"} +{"id": "MONDO_0002013", "parentIds": ["MONDO_0036976", "MONDO_0000629", "MONDO_0036870"], "name": "lymphangioma"} +{"id": "MONDO_0002014", "parentIds": ["EFO_1000017", "MONDO_0017314"], "name": "autosomal recessive Ehlers-Danlos syndrome, vascular type"} +{"id": "MONDO_0002017", "parentIds": ["EFO_0005772"], "name": "olivopontocerebellar atrophy"} {"id": "MONDO_0002025", "parentIds": [], "name": "psychiatric disorder"} {"id": "MONDO_0002026", "parentIds": ["MONDO_0002312"], "name": "candidiasis"} {"id": "MONDO_0002028", "parentIds": ["MONDO_0002025"], "name": "personality disorder"} +{"id": "MONDO_0002029", "parentIds": ["MONDO_0021157", "MONDO_0002030"], "name": "chronic gonorrhea of cervix"} +{"id": "MONDO_0002030", "parentIds": ["MONDO_0002345"], "name": "chronic cervicitis"} {"id": "MONDO_0002031", "parentIds": ["MONDO_0003409"], "name": "cecal disorder"} {"id": "MONDO_0002033", "parentIds": ["EFO_0009255", "MONDO_0021063"], "name": "cecum cancer"} +{"id": "MONDO_0002034", "parentIds": ["MONDO_0002033", "MONDO_0002035"], "name": "cecum lymphoma"} {"id": "MONDO_0002035", "parentIds": ["MONDO_0024656", "MONDO_0021063"], "name": "colon lymphoma"} {"id": "MONDO_0002036", "parentIds": ["EFO_0009555"], "name": "penile disorder"} {"id": "MONDO_0002037", "parentIds": ["EFO_0009433"], "name": "pleural disorder"} @@ -2186,36 +2977,55 @@ {"id": "MONDO_0002046", "parentIds": ["MONDO_0002491", "MONDO_0021698"], "name": "alcohol abuse"} {"id": "MONDO_0002050", "parentIds": ["EFO_0004247"], "name": "depressive disorder"} {"id": "MONDO_0002052", "parentIds": ["MONDO_0004928"], "name": "lymphadenitis"} +{"id": "MONDO_0002057", "parentIds": ["MONDO_0000620", "MONDO_0001572"], "name": "breast leiomyoma"} {"id": "MONDO_0002058", "parentIds": ["MONDO_0036976", "MONDO_0000620", "EFO_0000232"], "name": "breast adenoma"} {"id": "MONDO_0002060", "parentIds": ["MONDO_0002363"], "name": "intraductal papilloma"} -{"id": "MONDO_0002070", "parentIds": ["MONDO_0002078", "EFO_0000508"], "name": "ventricular septal defect"} +{"id": "MONDO_0002061", "parentIds": ["MONDO_0002488"], "name": "intraductal papillary breast neoplasm"} +{"id": "MONDO_0002070", "parentIds": ["MONDO_0002078", "MONDO_0100547"], "name": "ventricular septal defect"} {"id": "MONDO_0002071", "parentIds": ["MONDO_0001657"], "name": "supratentorial cancer"} +{"id": "MONDO_0002073", "parentIds": ["MONDO_0003113", "MONDO_0003000", "MONDO_0003249"], "name": "malignant pineal area germ cell neoplasm"} {"id": "MONDO_0002076", "parentIds": ["MONDO_0002037"], "name": "pneumothorax"} {"id": "MONDO_0002078", "parentIds": ["EFO_0005207"], "name": "heart septal defect"} {"id": "MONDO_0002083", "parentIds": ["MONDO_0021058", "MONDO_0024882"], "name": "Richter syndrome"} {"id": "MONDO_0002087", "parentIds": ["MONDO_0004992", "EFO_1001100"], "name": "peritoneum cancer"} {"id": "MONDO_0002089", "parentIds": ["MONDO_0002311", "MONDO_0020672"], "name": "retinal vascular occlusion"} {"id": "MONDO_0002090", "parentIds": ["EFO_1001204"], "name": "eccrine sweat gland neoplasm"} +{"id": "MONDO_0002092", "parentIds": ["MONDO_0001572", "MONDO_0021501"], "name": "small intestine leiomyoma"} {"id": "MONDO_0002093", "parentIds": ["MONDO_0024666"], "name": "acanthoma"} {"id": "MONDO_0002095", "parentIds": ["MONDO_0021080", "MONDO_0002100"], "name": "vascular cancer"} {"id": "MONDO_0002100", "parentIds": ["MONDO_0004992", "MONDO_0024757"], "name": "cardiovascular cancer"} +{"id": "MONDO_0002101", "parentIds": ["MONDO_0002633", "EFO_1002051"], "name": "facial nerve neoplasm"} {"id": "MONDO_0002102", "parentIds": ["MONDO_0004748"], "name": "cheilitis"} {"id": "MONDO_0002108", "parentIds": ["MONDO_0021069", "EFO_0003841"], "name": "thyroid cancer"} +{"id": "MONDO_0002112", "parentIds": ["EFO_1000467", "MONDO_0002373", "MONDO_0000650"], "name": "benign peritoneal mesothelioma"} {"id": "MONDO_0002113", "parentIds": ["EFO_0000313", "MONDO_0002087"], "name": "peritoneal carcinoma"} +{"id": "MONDO_0002114", "parentIds": ["MONDO_0004699", "EFO_1000359"], "name": "pancreas lymphoma"} {"id": "MONDO_0002116", "parentIds": ["EFO_1000359", "MONDO_0021076"], "name": "malignant exocrine pancreas neoplasm"} +{"id": "MONDO_0002117", "parentIds": ["EFO_1001968", "EFO_1000359"], "name": "pancreas sarcoma"} {"id": "MONDO_0002120", "parentIds": ["EFO_0000313", "EFO_1001901", "MONDO_0021069"], "name": "neuroendocrine carcinoma"} {"id": "MONDO_0002122", "parentIds": ["EFO_0003100"], "name": "neuritis"} {"id": "MONDO_0002123", "parentIds": ["EFO_0005769"], "name": "calcinosis"} {"id": "MONDO_0002132", "parentIds": ["EFO_1000350", "EFO_0006859", "MONDO_0024653"], "name": "skull cancer"} +{"id": "MONDO_0002133", "parentIds": ["MONDO_0024655"], "name": "chronic rheumatic pericarditis"} {"id": "MONDO_0002134", "parentIds": ["EFO_0000512"], "name": "physiological sexual disorder"} {"id": "MONDO_0002135", "parentIds": ["EFO_0009386", "MONDO_0003569", "MONDO_0024458"], "name": "optic nerve disorder"} +{"id": "MONDO_0002137", "parentIds": ["EFO_0009536"], "name": "noninfectious dermatoses of eyelid"} +{"id": "MONDO_0002138", "parentIds": ["EFO_0005751", "MONDO_0002137", "EFO_1000668"], "name": "allergic contact dermatitis of eyelid"} +{"id": "MONDO_0002140", "parentIds": ["EFO_1001968", "MONDO_0001402"], "name": "vagina sarcoma"} +{"id": "MONDO_0002143", "parentIds": ["MONDO_0016094", "EFO_0007252"], "name": "vaginal yolk sac tumor"} {"id": "MONDO_0002145", "parentIds": ["MONDO_0019755", "MONDO_0002259"], "name": "disorder of sexual differentiation"} {"id": "MONDO_0002146", "parentIds": ["MONDO_0002259"], "name": "hypogonadism"} {"id": "MONDO_0002149", "parentIds": ["EFO_1000051", "MONDO_0004992"], "name": "reproductive system cancer"} {"id": "MONDO_0002150", "parentIds": ["MONDO_0003081"], "name": "hypothalamic disorder"} {"id": "MONDO_0002158", "parentIds": ["EFO_1001331", "MONDO_0021092"], "name": "fallopian tube cancer"} +{"id": "MONDO_0002159", "parentIds": ["EFO_0000564", "MONDO_0002158"], "name": "fallopian tube leiomyosarcoma"} +{"id": "MONDO_0002162", "parentIds": ["EFO_0007134", "MONDO_0002158"], "name": "fallopian tube adenosarcoma"} +{"id": "MONDO_0002163", "parentIds": ["EFO_0000759", "MONDO_0021512"], "name": "thymus lipoma"} {"id": "MONDO_0002165", "parentIds": ["EFO_0009685", "EFO_0004142"], "name": "rectal neoplasm"} +{"id": "MONDO_0002166", "parentIds": ["MONDO_0024656", "EFO_1000657"], "name": "rectum lymphoma"} {"id": "MONDO_0002167", "parentIds": ["EFO_1000657", "MONDO_0045070"], "name": "rectum malignant melanoma"} +{"id": "MONDO_0002168", "parentIds": ["EFO_1000657", "EFO_0000691"], "name": "rectum sarcoma"} +{"id": "MONDO_0002170", "parentIds": ["MONDO_0021204", "MONDO_0002172"], "name": "chronic eustachian salpingitis"} {"id": "MONDO_0002171", "parentIds": ["EFO_0000616"], "name": "giant cell tumor"} {"id": "MONDO_0002172", "parentIds": ["EFO_0009667", "EFO_0004992"], "name": "otosalpingitis"} {"id": "MONDO_0002175", "parentIds": ["EFO_0009606"], "name": "degeneration of macula and posterior pole"} @@ -2224,20 +3034,41 @@ {"id": "MONDO_0002181", "parentIds": ["MONDO_0002185"], "name": "exostosis"} {"id": "MONDO_0002182", "parentIds": ["MONDO_0000592"], "name": "communication disorder"} {"id": "MONDO_0002185", "parentIds": ["MONDO_0000833"], "name": "hyperostosis"} +{"id": "MONDO_0002186", "parentIds": ["EFO_0007361"], "name": "acute maxillary sinusitis"} {"id": "MONDO_0002187", "parentIds": ["EFO_0009549"], "name": "vulvar disease"} +{"id": "MONDO_0002190", "parentIds": ["MONDO_0021489", "MONDO_0002191", "MONDO_0000643"], "name": "vulvar syringoma"} {"id": "MONDO_0002191", "parentIds": ["EFO_1001204"], "name": "syringoma"} +{"id": "MONDO_0002192", "parentIds": ["MONDO_0000643", "MONDO_0003954"], "name": "vulvar angiokeratoma"} +{"id": "MONDO_0002193", "parentIds": ["MONDO_0021114", "MONDO_0000626", "MONDO_0000652"], "name": "Bartholin gland benign neoplasm"} +{"id": "MONDO_0002194", "parentIds": ["MONDO_0000643", "MONDO_0002195", "EFO_1001970"], "name": "vestibular papilloma"} {"id": "MONDO_0002195", "parentIds": ["MONDO_0021049", "MONDO_0002532"], "name": "vulvar squamous neoplasm"} +{"id": "MONDO_0002198", "parentIds": ["MONDO_0021049", "MONDO_0024276"], "name": "vulvar glandular neoplasm"} +{"id": "MONDO_0002201", "parentIds": ["MONDO_0000643", "MONDO_0020593"], "name": "vulvar trichoepithelioma"} {"id": "MONDO_0002203", "parentIds": ["MONDO_0004880"], "name": "constipation disorder"} +{"id": "MONDO_0002204", "parentIds": ["EFO_0005856", "MONDO_0001429"], "name": "transient arthritis"} +{"id": "MONDO_0002205", "parentIds": ["MONDO_0001528", "EFO_1000397"], "name": "vulvar melanoma"} {"id": "MONDO_0002206", "parentIds": ["MONDO_0002898", "EFO_1001204"], "name": "sweat gland cancer"} +{"id": "MONDO_0002207", "parentIds": ["EFO_1000249", "MONDO_0024336"], "name": "vulval Paget disease"} {"id": "MONDO_0002211", "parentIds": ["MONDO_0004805", "MONDO_0021094", "MONDO_0003778"], "name": "B cell deficiency"} +{"id": "MONDO_0002214", "parentIds": ["MONDO_0001657", "MONDO_0002999"], "name": "brain germinoma"} +{"id": "MONDO_0002216", "parentIds": ["MONDO_0001657", "MONDO_0002217"], "name": "brain sarcoma"} {"id": "MONDO_0002217", "parentIds": ["EFO_0000326", "EFO_1001968"], "name": "central nervous system sarcoma"} +{"id": "MONDO_0002218", "parentIds": ["MONDO_0002731", "MONDO_0021372"], "name": "temporal lobe cancer"} {"id": "MONDO_0002220", "parentIds": ["EFO_1001216"], "name": "tooth hard tissue disease"} +{"id": "MONDO_0002221", "parentIds": ["MONDO_0004177", "MONDO_0004041"], "name": "urethral urothelial papilloma"} +{"id": "MONDO_0002222", "parentIds": ["MONDO_0001572", "MONDO_0004177"], "name": "urethra leiomyoma"} +{"id": "MONDO_0002223", "parentIds": ["EFO_1000355", "MONDO_0008170"], "name": "ovarian malignant mesothelioma"} {"id": "MONDO_0002225", "parentIds": ["EFO_1001968", "MONDO_0008170"], "name": "ovarian sarcoma"} +{"id": "MONDO_0002226", "parentIds": ["EFO_0003893", "EFO_0007531", "EFO_1001071"], "name": "tuberculous oophoritis"} +{"id": "MONDO_0002227", "parentIds": ["MONDO_0008170", "EFO_0000574"], "name": "ovarian lymphoma"} {"id": "MONDO_0002229", "parentIds": ["EFO_0006858", "EFO_0003893"], "name": "ovarian epithelial tumor"} +{"id": "MONDO_0002230", "parentIds": ["MONDO_0008170", "MONDO_0006058"], "name": "ovarian Wilms tumor"} {"id": "MONDO_0002232", "parentIds": ["MONDO_0004867"], "name": "nasal cavity disorder"} {"id": "MONDO_0002233", "parentIds": ["EFO_0003819"], "name": "enamel caries"} {"id": "MONDO_0002234", "parentIds": ["MONDO_0001433"], "name": "vaginitis"} {"id": "MONDO_0002236", "parentIds": ["EFO_0006859", "MONDO_0000649", "EFO_0003824"], "name": "ocular cancer"} +{"id": "MONDO_0002238", "parentIds": ["MONDO_0021063"], "name": "ascending colon cancer"} +{"id": "MONDO_0002240", "parentIds": ["MONDO_0001051", "MONDO_0002246"], "name": "acute perichondritis of pinna"} {"id": "MONDO_0002241", "parentIds": ["MONDO_0002242"], "name": "factor XIII deficiency"} {"id": "MONDO_0002242", "parentIds": ["EFO_0009314"], "name": "coagulation protein disease"} {"id": "MONDO_0002243", "parentIds": ["EFO_0005803"], "name": "hemorrhagic disease"} @@ -2252,6 +3083,10 @@ {"id": "MONDO_0002258", "parentIds": ["MONDO_0004867"], "name": "pharyngitis"} {"id": "MONDO_0002259", "parentIds": ["EFO_0001379", "EFO_0000512"], "name": "gonadal disorder"} {"id": "MONDO_0002260", "parentIds": ["EFO_1002046"], "name": "hidradenitis"} +{"id": "MONDO_0002262", "parentIds": ["MONDO_0024286", "MONDO_0002013", "MONDO_0001574"], "name": "capillary lymphangioma"} +{"id": "MONDO_0002265", "parentIds": ["MONDO_0000592"], "name": "stereotypic movement disorder"} +{"id": "MONDO_0002266", "parentIds": ["MONDO_0017853", "EFO_1001834", "EFO_0007140"], "name": "malt worker's lung"} +{"id": "MONDO_0002270", "parentIds": ["MONDO_0043424", "EFO_0000763", "EFO_0000217"], "name": "viral gastritis"} {"id": "MONDO_0002273", "parentIds": ["MONDO_0019052"], "name": "plasma protein metabolism disease"} {"id": "MONDO_0002277", "parentIds": ["MONDO_0000473"], "name": "arteriosclerosis disorder"} {"id": "MONDO_0002278", "parentIds": ["EFO_0004288", "MONDO_0021444"], "name": "benign colon neoplasm"} @@ -2262,24 +3097,30 @@ {"id": "MONDO_0002283", "parentIds": ["EFO_0005772"], "name": "neuroaxonal dystrophy"} {"id": "MONDO_0002286", "parentIds": ["EFO_0003086", "EFO_0005775"], "name": "renal artery disease"} {"id": "MONDO_0002289", "parentIds": ["MONDO_0002661"], "name": "iris disorder"} +{"id": "MONDO_0002291", "parentIds": ["MONDO_0002300", "EFO_1000284"], "name": "cutaneous granular cell tumor"} +{"id": "MONDO_0002295", "parentIds": ["MONDO_0018327", "MONDO_0002300"], "name": "skin glomus tumor"} {"id": "MONDO_0002297", "parentIds": ["EFO_0004198", "MONDO_0024481"], "name": "epidermal appendage tumor"} {"id": "MONDO_0002300", "parentIds": ["MONDO_0021154", "EFO_0004198"], "name": "dermis tumor"} {"id": "MONDO_0002304", "parentIds": ["EFO_0009315"], "name": "protein S deficiency"} +{"id": "MONDO_0002307", "parentIds": ["EFO_0009450", "EFO_0009536"], "name": "blepharoconjunctivitis"} {"id": "MONDO_0002311", "parentIds": ["EFO_0005753", "EFO_0003839", "MONDO_0043218"], "name": "retinal vascular disorder"} {"id": "MONDO_0002312", "parentIds": ["MONDO_0002041"], "name": "opportunistic mycosis"} {"id": "MONDO_0002314", "parentIds": ["EFO_0009450"], "name": "chronic conjunctivitis"} {"id": "MONDO_0002316", "parentIds": ["EFO_0003100"], "name": "motor peripheral neuropathy"} {"id": "MONDO_0002317", "parentIds": ["EFO_0005774"], "name": "central nervous system origin vertigo"} +{"id": "MONDO_0002318", "parentIds": ["MONDO_0001572", "MONDO_0021517"], "name": "trachea leiomyoma"} {"id": "MONDO_0002319", "parentIds": ["EFO_0009556"], "name": "phosphorus metabolism disease"} {"id": "MONDO_0002320", "parentIds": ["EFO_0000618"], "name": "congenital nervous system disorder"} {"id": "MONDO_0002321", "parentIds": ["EFO_0003100"], "name": "sensory peripheral neuropathy"} {"id": "MONDO_0002326", "parentIds": ["EFO_0000677"], "name": "alcohol-induced mental disorder"} {"id": "MONDO_0002328", "parentIds": ["EFO_1000107", "MONDO_0003241"], "name": "intracranial hemangioma"} {"id": "MONDO_0002331", "parentIds": ["EFO_0003086"], "name": "nephrosis"} +{"id": "MONDO_0002333", "parentIds": ["EFO_0003030", "EFO_0009002"], "name": "splenic abscess"} {"id": "MONDO_0002334", "parentIds": ["EFO_0005803", "EFO_0000616"], "name": "hematopoietic and lymphoid system neoplasm"} {"id": "MONDO_0002337", "parentIds": ["EFO_1000635"], "name": "intra-abdominal hemangioma"} {"id": "MONDO_0002341", "parentIds": ["EFO_0009011"], "name": "granulomatous angiitis"} {"id": "MONDO_0002342", "parentIds": ["MONDO_0003816"], "name": "chondromalacia"} +{"id": "MONDO_0002343", "parentIds": ["MONDO_0021500", "MONDO_0002337"], "name": "splenic hemangioma"} {"id": "MONDO_0002345", "parentIds": ["MONDO_0002256"], "name": "cervicitis"} {"id": "MONDO_0002350", "parentIds": ["EFO_0004255", "MONDO_0100191"], "name": "familial nephrotic syndrome"} {"id": "MONDO_0002351", "parentIds": ["EFO_1000354", "MONDO_0002353"], "name": "glottis cancer"} @@ -2290,68 +3131,96 @@ {"id": "MONDO_0002359", "parentIds": ["MONDO_0000631", "MONDO_0002360"], "name": "periosteal chondroma"} {"id": "MONDO_0002360", "parentIds": ["MONDO_0000636", "MONDO_0021581", "MONDO_0024470", "EFO_0002461"], "name": "chondroma"} {"id": "MONDO_0002363", "parentIds": ["MONDO_0021096", "MONDO_0036976"], "name": "papilloma"} +{"id": "MONDO_0002365", "parentIds": ["MONDO_0005094", "EFO_0003865"], "name": "kidney hemangiopericytoma"} {"id": "MONDO_0002366", "parentIds": ["EFO_0002431", "EFO_0009532", "EFO_1000158"], "name": "autonomic nervous system neoplasm"} {"id": "MONDO_0002367", "parentIds": ["EFO_1000363", "EFO_0003865"], "name": "kidney cancer"} {"id": "MONDO_0002368", "parentIds": ["EFO_0000639", "MONDO_0024621"], "name": "papillary serous cystadenocarcinoma"} {"id": "MONDO_0002369", "parentIds": ["MONDO_0024276", "MONDO_0021077", "EFO_0000232"], "name": "cystadenoma"} {"id": "MONDO_0002372", "parentIds": ["MONDO_0003331"], "name": "ovarian monodermal and highly specialized teratoma"} +{"id": "MONDO_0002373", "parentIds": ["EFO_0000588", "EFO_0002422"], "name": "benign mesothelioma"} {"id": "MONDO_0002375", "parentIds": ["MONDO_0021634", "EFO_1001172", "EFO_0000232"], "name": "sebaceous adenoma"} {"id": "MONDO_0002376", "parentIds": ["EFO_0007491", "EFO_0003968"], "name": "spleen angiosarcoma"} +{"id": "MONDO_0002379", "parentIds": ["MONDO_0002601"], "name": "cystic teratoma"} {"id": "MONDO_0002380", "parentIds": ["EFO_0006858"], "name": "myoepithelial tumor"} +{"id": "MONDO_0002382", "parentIds": ["EFO_1001042", "EFO_0002422"], "name": "benign mesenchymoma"} +{"id": "MONDO_0002387", "parentIds": ["MONDO_0002397", "MONDO_0002405", "EFO_0003968"], "name": "liver angiosarcoma"} {"id": "MONDO_0002395", "parentIds": ["EFO_0000232", "MONDO_0002513", "MONDO_0036976"], "name": "renal adenoma"} {"id": "MONDO_0002397", "parentIds": ["EFO_1001968", "MONDO_0002691"], "name": "liver sarcoma"} {"id": "MONDO_0002398", "parentIds": ["EFO_1000070", "MONDO_0036976", "MONDO_0024338"], "name": "mucinous adenofibroma"} +{"id": "MONDO_0002401", "parentIds": ["EFO_1000562", "MONDO_0002403", "MONDO_0002402"], "name": "malignant tenosynovial giant cell tumor"} {"id": "MONDO_0002402", "parentIds": ["MONDO_0002171", "MONDO_0004992"], "name": "malignant giant cell tumor"} -{"id": "MONDO_0002404", "parentIds": ["MONDO_0002337", "MONDO_0024477", "MONDO_0000385", "MONDO_0000627"], "name": "liver hemangioma"} +{"id": "MONDO_0002403", "parentIds": ["MONDO_0000637", "MONDO_0002528"], "name": "synovium cancer"} +{"id": "MONDO_0002404", "parentIds": ["MONDO_0002337", "MONDO_0859689", "MONDO_0024477", "MONDO_0000627"], "name": "liver hemangioma"} {"id": "MONDO_0002405", "parentIds": ["EFO_0001421", "EFO_0004264"], "name": "hepatic vascular disorder"} {"id": "MONDO_0002406", "parentIds": ["EFO_0000701"], "name": "dermatitis"} {"id": "MONDO_0002407", "parentIds": ["EFO_1000635"], "name": "capillary hemangioma"} {"id": "MONDO_0002408", "parentIds": ["MONDO_0017755"], "name": "hereditary hyperbilirubinemia"} {"id": "MONDO_0002412", "parentIds": ["MONDO_0019214", "MONDO_0019243"], "name": "disorder of glycogen metabolism"} {"id": "MONDO_0002413", "parentIds": ["MONDO_0002412"], "name": "glycogen storage disease I"} +{"id": "MONDO_0002414", "parentIds": ["MONDO_0002337", "MONDO_0021449"], "name": "gastric hemangioma"} {"id": "MONDO_0002415", "parentIds": ["EFO_0000313", "EFO_1000350"], "name": "bone carcinoma"} {"id": "MONDO_0002416", "parentIds": ["MONDO_0001763", "MONDO_0044705"], "name": "ethmoid sinus squamous cell carcinoma"} +{"id": "MONDO_0002418", "parentIds": ["MONDO_0001763", "EFO_0000228"], "name": "ethmoid sinus adenocarcinoma"} +{"id": "MONDO_0002419", "parentIds": ["MONDO_0002420", "EFO_0004280"], "name": "transient tic disorder"} {"id": "MONDO_0002420", "parentIds": ["MONDO_0000592"], "name": "tic disorder"} {"id": "MONDO_0002422", "parentIds": ["MONDO_0002415"], "name": "adamantinoma"} {"id": "MONDO_0002423", "parentIds": ["EFO_1001181"], "name": "rectosigmoid junction neoplasm"} +{"id": "MONDO_0002424", "parentIds": ["MONDO_0002425", "MONDO_0044937", "EFO_1001950"], "name": "rectosigmoid carcinoma"} +{"id": "MONDO_0002425", "parentIds": ["MONDO_0002423", "MONDO_0001464", "EFO_1000657"], "name": "rectosigmoid junction cancer"} {"id": "MONDO_0002426", "parentIds": ["MONDO_0008903", "EFO_1001968"], "name": "lung sarcoma"} {"id": "MONDO_0002427", "parentIds": ["EFO_0005774"], "name": "cerebellar disorder"} {"id": "MONDO_0002428", "parentIds": ["EFO_0001067"], "name": "protozoa infectious disease"} -{"id": "MONDO_0002429", "parentIds": ["EFO_0003106", "MONDO_0017027"], "name": "idiopathic interstitial pneumonia"} +{"id": "MONDO_0002429", "parentIds": ["EFO_0003106"], "name": "idiopathic interstitial pneumonia"} +{"id": "MONDO_0002432", "parentIds": ["EFO_1000884", "MONDO_0004532", "MONDO_0021221"], "name": "malignant neoplasm of acoustic nerve"} +{"id": "MONDO_0002434", "parentIds": ["EFO_1000884", "MONDO_0002435"], "name": "oculomotor nerve cancer"} +{"id": "MONDO_0002435", "parentIds": ["MONDO_0002633", "MONDO_0003546"], "name": "oculomotor nerve neoplasm"} {"id": "MONDO_0002438", "parentIds": ["EFO_0005804"], "name": "acquired polycythemia"} {"id": "MONDO_0002441", "parentIds": ["MONDO_0019171"], "name": "Jervell and Lange-Nielsen syndrome"} +{"id": "MONDO_0002443", "parentIds": ["MONDO_0003406"], "name": "bruxism"} +{"id": "MONDO_0002448", "parentIds": ["EFO_1001968", "EFO_1000354"], "name": "laryngeal sarcoma"} {"id": "MONDO_0002450", "parentIds": ["MONDO_0036976", "EFO_0000232", "MONDO_0021510"], "name": "prostatic adenoma"} +{"id": "MONDO_0002451", "parentIds": ["MONDO_0021510", "MONDO_0021102", "MONDO_0037002", "MONDO_0004180"], "name": "benign prostate phyllodes tumor"} +{"id": "MONDO_0002452", "parentIds": ["MONDO_0001572", "MONDO_0021510"], "name": "prostate leiomyoma"} {"id": "MONDO_0002453", "parentIds": ["EFO_1001455"], "name": "retrocochlear disease"} -{"id": "MONDO_0002457", "parentIds": ["MONDO_0018751", "MONDO_0015483", "MONDO_0000426", "MONDO_0015161"], "name": "Treacher-Collins syndrome"} +{"id": "MONDO_0002457", "parentIds": ["MONDO_0000426", "MONDO_0015161", "MONDO_0018751", "MONDO_0015483"], "name": "Treacher-Collins syndrome"} {"id": "MONDO_0002459", "parentIds": ["EFO_1002003"], "name": "type IV hypersensitivity disease"} -{"id": "MONDO_0002460", "parentIds": ["MONDO_0002236", "EFO_0009455"], "name": "lacrimal system cancer"} +{"id": "MONDO_0002460", "parentIds": ["MONDO_0021313", "EFO_0009455"], "name": "lacrimal system cancer"} {"id": "MONDO_0002462", "parentIds": ["EFO_1002050", "EFO_1002049"], "name": "glomerulonephritis"} -{"id": "MONDO_0002463", "parentIds": ["MONDO_0002466", "MONDO_0002464"], "name": "lacrimal gland carcinoma"} +{"id": "MONDO_0002463", "parentIds": ["MONDO_0002466", "MONDO_0002464", "MONDO_0003876"], "name": "lacrimal gland carcinoma"} {"id": "MONDO_0002464", "parentIds": ["MONDO_0002460", "MONDO_0021222"], "name": "lacrimal gland cancer"} {"id": "MONDO_0002465", "parentIds": ["EFO_0003818"], "name": "bronchiolitis"} {"id": "MONDO_0002466", "parentIds": ["MONDO_0002236", "MONDO_0002038"], "name": "eye carcinoma"} {"id": "MONDO_0002468", "parentIds": ["MONDO_0002211"], "name": "hyperimmunoglobulin syndrome"} +{"id": "MONDO_0002469", "parentIds": ["MONDO_0002472", "MONDO_0002463"], "name": "lacrimal gland carcinoma ex pleomorphic adenoma"} {"id": "MONDO_0002470", "parentIds": ["EFO_0008499", "MONDO_0018053", "EFO_0009565"], "name": "photosensitive trichothiodystrophy"} {"id": "MONDO_0002471", "parentIds": ["EFO_1000999", "MONDO_0056802"], "name": "bursitis"} {"id": "MONDO_0002472", "parentIds": ["EFO_1000356", "MONDO_0002380", "EFO_0000313"], "name": "carcinoma ex pleomorphic adenoma"} {"id": "MONDO_0002474", "parentIds": ["MONDO_0019214"], "name": "primary hyperoxaluria"} {"id": "MONDO_0002475", "parentIds": ["MONDO_0002463", "EFO_0000228"], "name": "lacrimal gland adenocarcinoma"} {"id": "MONDO_0002477", "parentIds": ["MONDO_0021259", "EFO_1001901"], "name": "prostate neuroendocrine neoplasm"} +{"id": "MONDO_0002478", "parentIds": ["MONDO_0021043"], "name": "mixed germ cell-sex cord-stromal tumor"} {"id": "MONDO_0002480", "parentIds": ["EFO_0006858", "MONDO_0021148"], "name": "endometrioid tumor"} {"id": "MONDO_0002481", "parentIds": ["MONDO_0021069", "EFO_1001901", "MONDO_0008170"], "name": "ovarian neuroendocrine neoplasm"} {"id": "MONDO_0002482", "parentIds": ["EFO_0003869"], "name": "nipple neoplasm"} +{"id": "MONDO_0002483", "parentIds": ["MONDO_0002380", "EFO_0003869"], "name": "breast myoepithelial tumor"} +{"id": "MONDO_0002485", "parentIds": ["EFO_1001901", "EFO_0003869"], "name": "breast neuroendocrine neoplasm"} {"id": "MONDO_0002486", "parentIds": ["MONDO_0004658"], "name": "lobular neoplasia"} +{"id": "MONDO_0002487", "parentIds": ["EFO_0003869", "EFO_1000284"], "name": "breast granular cell tumor"} {"id": "MONDO_0002488", "parentIds": ["EFO_0003869"], "name": "intraductal breast neoplasm"} {"id": "MONDO_0002490", "parentIds": ["EFO_1001968", "MONDO_0007254"], "name": "breast sarcoma"} {"id": "MONDO_0002491", "parentIds": ["MONDO_0002494"], "name": "substance abuse"} {"id": "MONDO_0002492", "parentIds": ["EFO_1002048"], "name": "acute kidney failure"} {"id": "MONDO_0002493", "parentIds": ["EFO_0000673", "EFO_0000216"], "name": "prostatic acinar adenocarcinoma"} {"id": "MONDO_0002494", "parentIds": ["MONDO_0002025"], "name": "substance-related disorder"} +{"id": "MONDO_0002495", "parentIds": ["MONDO_0044336", "EFO_1001949"], "name": "colon signet ring cell adenocarcinoma"} +{"id": "MONDO_0002503", "parentIds": ["MONDO_0021636"], "name": "adult astrocytic tumor"} +{"id": "MONDO_0002505", "parentIds": ["MONDO_0021636", "MONDO_0021079"], "name": "childhood astrocytic tumor"} {"id": "MONDO_0002507", "parentIds": ["EFO_0009670"], "name": "gingival overgrowth"} {"id": "MONDO_0002508", "parentIds": ["EFO_0009670", "EFO_0009688"], "name": "gingivitis"} {"id": "MONDO_0002512", "parentIds": ["EFO_0000228", "EFO_1000646"], "name": "papillary adenocarcinoma"} {"id": "MONDO_0002513", "parentIds": ["EFO_0003865", "MONDO_0004180"], "name": "kidney benign neoplasm"} {"id": "MONDO_0002516", "parentIds": ["EFO_0010282", "MONDO_0004992", "EFO_0008549"], "name": "digestive system cancer"} +{"id": "MONDO_0002518", "parentIds": ["MONDO_0021096", "EFO_0004606"], "name": "gallbladder papillary neoplasm"} {"id": "MONDO_0002520", "parentIds": ["EFO_0001421", "MONDO_0037939"], "name": "hepatic porphyria"} {"id": "MONDO_0002523", "parentIds": ["EFO_0000701"], "name": "cutaneous mucinosis"} {"id": "MONDO_0002525", "parentIds": ["MONDO_0019052"], "name": "inherited lipid metabolism disorder"} @@ -2360,19 +3229,32 @@ {"id": "MONDO_0002529", "parentIds": ["EFO_0000707", "EFO_0009259"], "name": "skin squamous cell carcinoma"} {"id": "MONDO_0002532", "parentIds": ["EFO_0006858"], "name": "squamous cell neoplasm"} {"id": "MONDO_0002533", "parentIds": ["MONDO_0021096", "EFO_0000232"], "name": "papillary adenoma"} +{"id": "MONDO_0002534", "parentIds": ["MONDO_0002363", "MONDO_0000645"], "name": "fallopian tube papilloma"} +{"id": "MONDO_0002536", "parentIds": ["MONDO_0024666", "MONDO_0002363"], "name": "skin papilloma"} {"id": "MONDO_0002537", "parentIds": ["MONDO_0002363"], "name": "inverted papilloma"} +{"id": "MONDO_0002540", "parentIds": ["EFO_1000654", "EFO_0000632"], "name": "childhood oligodendroglioma"} +{"id": "MONDO_0002541", "parentIds": ["MONDO_0002542", "EFO_0000632"], "name": "spinal cord oligodendroglioma"} {"id": "MONDO_0002542", "parentIds": ["MONDO_0100342", "MONDO_0003544"], "name": "spinal cord glioma"} +{"id": "MONDO_0002543", "parentIds": ["EFO_0000632"], "name": "adult oligodendroglioma"} +{"id": "MONDO_0002544", "parentIds": ["EFO_0000632", "MONDO_0005499"], "name": "brain oligodendroglioma"} {"id": "MONDO_0002547", "parentIds": ["EFO_0005543", "EFO_0002431"], "name": "nerve sheath neoplasm"} {"id": "MONDO_0002548", "parentIds": ["EFO_0000693"], "name": "cellular schwannoma"} +{"id": "MONDO_0002555", "parentIds": ["EFO_0000693", "MONDO_0001420"], "name": "trigeminal schwannoma"} {"id": "MONDO_0002558", "parentIds": ["EFO_0000693"], "name": "melanotic neurilemmoma"} {"id": "MONDO_0002561", "parentIds": ["MONDO_0019052"], "name": "lysosomal storage disease"} {"id": "MONDO_0002562", "parentIds": ["EFO_0005772"], "name": "demyelinating disease"} {"id": "MONDO_0002564", "parentIds": ["MONDO_0004251"], "name": "jejunal neoplasm"} {"id": "MONDO_0002567", "parentIds": ["MONDO_0004867", "EFO_0009433"], "name": "tracheal disorder"} -{"id": "MONDO_0002579", "parentIds": ["MONDO_0002580", "EFO_0000437"], "name": "orbit embryonal rhabdomyosarcoma"} +{"id": "MONDO_0002574", "parentIds": ["EFO_0000437", "EFO_1000498"], "name": "prostate embryonal rhabdomyosarcoma"} +{"id": "MONDO_0002576", "parentIds": ["EFO_0000437", "MONDO_0002577"], "name": "embryonal extrahepatic bile duct rhabdomyosarcoma"} +{"id": "MONDO_0002577", "parentIds": ["MONDO_0002849", "MONDO_0024658"], "name": "extrahepatic bile duct rhabdomyosarcoma"} +{"id": "MONDO_0002579", "parentIds": ["MONDO_0023603", "MONDO_0002580", "EFO_0000437"], "name": "orbit embryonal rhabdomyosarcoma"} {"id": "MONDO_0002580", "parentIds": ["EFO_0002918", "MONDO_0004943"], "name": "orbit rhabdomyosarcoma"} -{"id": "MONDO_0002586", "parentIds": ["MONDO_0000621", "MONDO_0021069", "EFO_0002626"], "name": "thymus cancer"} +{"id": "MONDO_0002581", "parentIds": ["EFO_0002918", "MONDO_0002927"], "name": "spindle cell rhabdomyosarcoma"} +{"id": "MONDO_0002583", "parentIds": ["EFO_1001048", "EFO_0002511"], "name": "mucinous ovarian cystadenoma"} +{"id": "MONDO_0002586", "parentIds": ["MONDO_0021069", "EFO_0002626", "MONDO_0000621"], "name": "thymus cancer"} {"id": "MONDO_0002588", "parentIds": ["EFO_1000581"], "name": "thymoma type A"} +{"id": "MONDO_0002592", "parentIds": ["EFO_1000581", "MONDO_0040677", "EFO_1000576"], "name": "invasive malignant thymoma"} {"id": "MONDO_0002597", "parentIds": ["EFO_0003820", "EFO_0005784"], "name": "notochordal tumor"} {"id": "MONDO_0002598", "parentIds": ["EFO_1000352"], "name": "germinoma"} {"id": "MONDO_0002601", "parentIds": ["MONDO_0021656"], "name": "teratoma"} @@ -2385,74 +3267,155 @@ {"id": "MONDO_0002614", "parentIds": ["EFO_0004260"], "name": "bone inflammation disease"} {"id": "MONDO_0002615", "parentIds": ["MONDO_0019245"], "name": "xanthomatosis"} {"id": "MONDO_0002616", "parentIds": ["EFO_0000616"], "name": "mesenchymal cell neoplasm"} +{"id": "MONDO_0002617", "parentIds": ["MONDO_0021054", "MONDO_0024499", "EFO_0003968"], "name": "bone angiosarcoma"} {"id": "MONDO_0002618", "parentIds": ["MONDO_0021054"], "name": "undifferentiated high grade pleomorphic sarcoma of bone"} {"id": "MONDO_0002619", "parentIds": ["MONDO_0021054", "EFO_0002087"], "name": "bone fibrosarcoma"} {"id": "MONDO_0002621", "parentIds": ["EFO_0000637", "EFO_1001968"], "name": "extraosseous osteosarcoma"} +{"id": "MONDO_0002623", "parentIds": ["EFO_0000637", "EFO_1000654"], "name": "pediatric osteosarcoma"} +{"id": "MONDO_0002624", "parentIds": ["EFO_0000564", "MONDO_0021054"], "name": "bone leiomyosarcoma"} +{"id": "MONDO_0002625", "parentIds": ["MONDO_0021123", "MONDO_0021054", "EFO_0000174", "MONDO_0023603"], "name": "Ewing sarcoma of bone"} {"id": "MONDO_0002627", "parentIds": ["MONDO_0002631"], "name": "chondroblastic osteosarcoma"} {"id": "MONDO_0002628", "parentIds": ["MONDO_0002629"], "name": "peripheral osteosarcoma"} {"id": "MONDO_0002629", "parentIds": ["EFO_0000637", "MONDO_0021054"], "name": "bone osteosarcoma"} {"id": "MONDO_0002630", "parentIds": ["EFO_1000350", "EFO_1001184"], "name": "small cell osteogenic sarcoma"} {"id": "MONDO_0002631", "parentIds": ["MONDO_0002629"], "name": "conventional osteosarcoma"} {"id": "MONDO_0002633", "parentIds": ["MONDO_0003569", "EFO_0005950", "EFO_0002431"], "name": "cranial nerve neoplasm"} +{"id": "MONDO_0002634", "parentIds": ["EFO_0000569", "MONDO_0021054"], "name": "liposarcoma of bone"} {"id": "MONDO_0002635", "parentIds": ["EFO_1001216"], "name": "periodontal disorder"} +{"id": "MONDO_0002642", "parentIds": ["MONDO_0002633", "EFO_1001220"], "name": "trochlear nerve neoplasm"} +{"id": "MONDO_0002645", "parentIds": ["EFO_0005774", "EFO_0001423"], "name": "cerebritis"} +{"id": "MONDO_0002646", "parentIds": ["MONDO_0004777", "MONDO_0024352"], "name": "viral laryngitis"} {"id": "MONDO_0002647", "parentIds": ["EFO_0009673"], "name": "laryngitis"} +{"id": "MONDO_0002648", "parentIds": ["EFO_0000304", "MONDO_0021165"], "name": "mammary Paget disease"} +{"id": "MONDO_0002649", "parentIds": ["MONDO_0021165", "MONDO_0002650"], "name": "scrotum Paget disease"} +{"id": "MONDO_0002650", "parentIds": ["EFO_0000313", "MONDO_0021112"], "name": "scrotal carcinoma"} +{"id": "MONDO_0002651", "parentIds": ["EFO_1000249", "MONDO_0002652"], "name": "anal Paget disease"} {"id": "MONDO_0002652", "parentIds": ["EFO_0005631", "MONDO_0003199"], "name": "anus adenocarcinoma"} +{"id": "MONDO_0002653", "parentIds": ["EFO_1000465", "EFO_1000249"], "name": "Paget disease of the penis"} {"id": "MONDO_0002654", "parentIds": ["EFO_0009549"], "name": "uterine disorder"} +{"id": "MONDO_0002655", "parentIds": ["EFO_0009259", "MONDO_0021165"], "name": "cutaneous Paget disease"} {"id": "MONDO_0002661", "parentIds": ["EFO_0003966"], "name": "uveal disorder"} {"id": "MONDO_0002664", "parentIds": ["MONDO_0002665", "EFO_0000698"], "name": "extrahepatic bile duct signet ring cell carcinoma"} {"id": "MONDO_0002665", "parentIds": ["MONDO_0003193", "MONDO_0003090"], "name": "extrahepatic bile duct adenocarcinoma"} +{"id": "MONDO_0002666", "parentIds": ["EFO_0000698", "MONDO_0005184"], "name": "pancreatic signet ring cell adenocarcinoma"} +{"id": "MONDO_0002667", "parentIds": ["EFO_0000698", "EFO_1000262"], "name": "gallbladder signet ring cell adenocarcinoma"} +{"id": "MONDO_0002671", "parentIds": ["EFO_0000304", "EFO_0000698", "EFO_1000307"], "name": "signet ring cell breast carcinoma"} +{"id": "MONDO_0002672", "parentIds": ["MONDO_0002493", "EFO_0000698"], "name": "acinar prostate adenocarcinoma, signet ring variant"} {"id": "MONDO_0002674", "parentIds": ["EFO_0003086"], "name": "stricture or kinking of ureter"} +{"id": "MONDO_0002676", "parentIds": ["MONDO_0002677"], "name": "adult fibrosarcoma"} {"id": "MONDO_0002677", "parentIds": ["EFO_0002087"], "name": "conventional fibrosarcoma"} {"id": "MONDO_0002678", "parentIds": ["EFO_1000654", "EFO_0002087"], "name": "pediatric fibrosarcoma"} {"id": "MONDO_0002679", "parentIds": ["EFO_0004277"], "name": "cerebral infarction"} +{"id": "MONDO_0002683", "parentIds": ["MONDO_0016717"], "name": "adult choroid plexus neoplasm"} {"id": "MONDO_0002684", "parentIds": ["MONDO_0016717"], "name": "atypical choroid plexus papilloma"} +{"id": "MONDO_0002685", "parentIds": ["MONDO_0016718", "MONDO_0024744", "MONDO_0002071", "EFO_1000654"], "name": "childhood choroid plexus carcinoma"} {"id": "MONDO_0002691", "parentIds": ["MONDO_0002516", "MONDO_0024477", "MONDO_0021069"], "name": "liver cancer"} +{"id": "MONDO_0002697", "parentIds": ["MONDO_0010768", "MONDO_0018172"], "name": "ovarian gonadoblastoma"} +{"id": "MONDO_0002698", "parentIds": ["MONDO_0003125", "MONDO_0010768", "EFO_0005088"], "name": "testicular gonadoblastoma"} +{"id": "MONDO_0002703", "parentIds": ["MONDO_0018330", "EFO_0007378"], "name": "appendix mucinous cystadenocarcinoma"} +{"id": "MONDO_0002705", "parentIds": ["EFO_0007378", "EFO_0000304"], "name": "breast mucinous cystadenocarcinoma"} +{"id": "MONDO_0002706", "parentIds": ["EFO_0001065", "MONDO_0002256"], "name": "cervix endometriosis"} {"id": "MONDO_0002708", "parentIds": ["EFO_1001119", "EFO_0003839"], "name": "retinitis"} +{"id": "MONDO_0002710", "parentIds": ["MONDO_0004075", "EFO_1000085"], "name": "infiltrating angiolipoma"} {"id": "MONDO_0002715", "parentIds": ["EFO_0003859", "EFO_1001331"], "name": "uterine cancer"} -{"id": "MONDO_0002718", "parentIds": ["MONDO_0016738", "MONDO_0002601", "MONDO_0019500", "MONDO_0020574"], "name": "central nervous system teratoma"} +{"id": "MONDO_0002716", "parentIds": ["MONDO_0021079", "EFO_0003828"], "name": "childhood spinal cord tumor"} +{"id": "MONDO_0002718", "parentIds": ["MONDO_0002601", "MONDO_0019500", "MONDO_0020574"], "name": "central nervous system teratoma"} {"id": "MONDO_0002720", "parentIds": ["MONDO_0002785"], "name": "sella turcica neoplasm"} {"id": "MONDO_0002721", "parentIds": ["EFO_0009607"], "name": "necrosis of pituitary"} {"id": "MONDO_0002722", "parentIds": ["MONDO_0002727", "MONDO_0002633", "EFO_0003833"], "name": "olfactory nerve neoplasm"} {"id": "MONDO_0002727", "parentIds": ["MONDO_0003569", "EFO_0005774", "EFO_0009387"], "name": "olfactory nerve disorder"} {"id": "MONDO_0002730", "parentIds": ["MONDO_0021079", "EFO_0003865"], "name": "childhood kidney neoplasm"} +{"id": "MONDO_0002731", "parentIds": ["MONDO_0021374", "MONDO_0002071"], "name": "cerebral hemisphere cancer"} {"id": "MONDO_0002732", "parentIds": ["MONDO_0000382", "MONDO_0021117", "MONDO_0000634"], "name": "lung benign neoplasm"} +{"id": "MONDO_0002734", "parentIds": ["MONDO_0002652", "MONDO_0002748"], "name": "anal mucinous adenocarcinoma"} +{"id": "MONDO_0002735", "parentIds": ["MONDO_0002652", "MONDO_0007108"], "name": "anal canal adenocarcinoma"} +{"id": "MONDO_0002736", "parentIds": ["EFO_0008490", "MONDO_0002739"], "name": "ampulla of vater mucinous adenocarcinoma"} +{"id": "MONDO_0002738", "parentIds": ["MONDO_0001212"], "name": "acute transudative otitis media"} +{"id": "MONDO_0002739", "parentIds": ["EFO_0000197", "MONDO_0002665"], "name": "extrahepatic bile duct mucinous adenocarcinoma"} +{"id": "MONDO_0002740", "parentIds": ["MONDO_0002741", "MONDO_0002742"], "name": "uterine ligament mucinous adenocarcinoma"} +{"id": "MONDO_0002741", "parentIds": ["EFO_0001416", "MONDO_0003612"], "name": "uterine ligament adenocarcinoma"} {"id": "MONDO_0002742", "parentIds": ["EFO_0001416", "EFO_0000197"], "name": "cervical mucinous adenocarcinoma"} +{"id": "MONDO_0002744", "parentIds": ["EFO_0000197", "MONDO_0002746", "MONDO_0002745"], "name": "fallopian tube mucinous adenocarcinoma"} +{"id": "MONDO_0002745", "parentIds": ["MONDO_0021092", "MONDO_0024338"], "name": "fallopian tube mucinous tumor"} {"id": "MONDO_0002746", "parentIds": ["EFO_1000251", "EFO_0000228"], "name": "fallopian tube adenocarcinoma"} +{"id": "MONDO_0002748", "parentIds": ["EFO_0000197", "EFO_0005631"], "name": "rectum mucinous adenocarcinoma"} {"id": "MONDO_0002749", "parentIds": ["EFO_0000621"], "name": "extracranial neuroblastoma"} +{"id": "MONDO_0002758", "parentIds": ["EFO_1000624", "EFO_0007535"], "name": "vulva verrucous carcinoma"} +{"id": "MONDO_0002759", "parentIds": ["EFO_0007535", "EFO_1000130"], "name": "bladder verrucous carcinoma"} +{"id": "MONDO_0002761", "parentIds": ["MONDO_0016285", "EFO_0007535", "EFO_1000172"], "name": "cervical verrucous carcinoma"} +{"id": "MONDO_0002762", "parentIds": ["EFO_0007535", "EFO_0005922"], "name": "esophagus verrucous carcinoma"} +{"id": "MONDO_0002763", "parentIds": ["MONDO_0002764", "EFO_0007535"], "name": "urethral verrucous carcinoma"} {"id": "MONDO_0002764", "parentIds": ["MONDO_0021327", "EFO_0000707"], "name": "urethra squamous cell carcinoma"} +{"id": "MONDO_0002765", "parentIds": ["EFO_0007535", "MONDO_0002529"], "name": "plantar verrucous skin carcinoma"} +{"id": "MONDO_0002766", "parentIds": ["EFO_0007535", "EFO_0006352"], "name": "larynx verrucous carcinoma"} +{"id": "MONDO_0002772", "parentIds": ["MONDO_0016642", "MONDO_0021322", "EFO_0007201"], "name": "intraventricular meningioma"} {"id": "MONDO_0002775", "parentIds": ["EFO_0005771"], "name": "anovulation"} +{"id": "MONDO_0002779", "parentIds": ["EFO_1000540", "MONDO_0000628"], "name": "central nervous system chondroma"} {"id": "MONDO_0002785", "parentIds": ["MONDO_0024653"], "name": "skull base neoplasm"} {"id": "MONDO_0002786", "parentIds": ["MONDO_0002071"], "name": "diencephalic cancer"} +{"id": "MONDO_0002794", "parentIds": ["EFO_0002939", "MONDO_0003260"], "name": "adult medulloblastoma"} +{"id": "MONDO_0002795", "parentIds": ["MONDO_0000640"], "name": "adult central nervous system primitive neuroectodermal neoplasm"} +{"id": "MONDO_0002797", "parentIds": ["MONDO_0003263", "EFO_0002939"], "name": "childhood medulloblastoma"} {"id": "MONDO_0002798", "parentIds": ["EFO_1000654", "MONDO_0000640"], "name": "childhood central nervous system primitive neuroectodermal neoplasm"} {"id": "MONDO_0002805", "parentIds": ["MONDO_0021110"], "name": "hidradenoma"} -{"id": "MONDO_0002812", "parentIds": ["MONDO_0021666", "EFO_0009604", "MONDO_0021669"], "name": "infectious otitis interna"} +{"id": "MONDO_0002808", "parentIds": ["MONDO_0002809", "EFO_0002504"], "name": "pancreatic serous cystadenoma"} +{"id": "MONDO_0002809", "parentIds": ["MONDO_0002369", "MONDO_0021076"], "name": "pancreatic cystadenoma"} +{"id": "MONDO_0002810", "parentIds": ["MONDO_0021076"], "name": "pancreatic serous cystic neoplasm"} +{"id": "MONDO_0002812", "parentIds": ["MONDO_0021666", "EFO_0009604", "MONDO_0021669", "MONDO_0020010"], "name": "infectious otitis interna"} {"id": "MONDO_0002813", "parentIds": ["MONDO_0021354", "MONDO_0004992"], "name": "lipomatous cancer"} {"id": "MONDO_0002814", "parentIds": ["MONDO_0001502", "MONDO_0002817"], "name": "adrenal carcinoma"} +{"id": "MONDO_0002815", "parentIds": ["EFO_0009609"], "name": "acute myocarditis"} {"id": "MONDO_0002816", "parentIds": ["EFO_0005539"], "name": "adrenal cortex disorder"} {"id": "MONDO_0002817", "parentIds": ["MONDO_0021069", "EFO_0003850", "EFO_0007466"], "name": "adrenal gland cancer"} +{"id": "MONDO_0002822", "parentIds": ["EFO_0000228"], "name": "trabecular adenocarcinoma"} {"id": "MONDO_0002824", "parentIds": ["EFO_0000318"], "name": "extrinsic cardiomyopathy"} +{"id": "MONDO_0002828", "parentIds": ["EFO_1000601", "EFO_1000103"], "name": "Bartholin gland transitional cell carcinoma"} +{"id": "MONDO_0002833", "parentIds": ["EFO_1000601", "EFO_1000251"], "name": "fallopian tube transitional cell carcinoma"} +{"id": "MONDO_0002834", "parentIds": ["EFO_0001663", "EFO_1000601"], "name": "primary prostate urothelial carcinoma"} {"id": "MONDO_0002836", "parentIds": ["MONDO_0021327", "EFO_0008528"], "name": "urethra transitional cell carcinoma"} {"id": "MONDO_0002837", "parentIds": ["EFO_1000601", "EFO_1000520"], "name": "sarcomatoid transitional cell carcinoma"} {"id": "MONDO_0002839", "parentIds": ["MONDO_0045054", "EFO_0009608"], "name": "leather-bottle stomach"} +{"id": "MONDO_0002842", "parentIds": ["MONDO_0043424", "EFO_0000217", "EFO_0000771"], "name": "bacterial gastritis"} +{"id": "MONDO_0002843", "parentIds": ["MONDO_0043424", "EFO_0000217", "MONDO_0002041"], "name": "fungal gastritis"} +{"id": "MONDO_0002847", "parentIds": ["MONDO_0002848", "EFO_0007384"], "name": "skeletal muscle cancer"} +{"id": "MONDO_0002848", "parentIds": ["EFO_0000616", "MONDO_0020120"], "name": "skeletal muscle neoplasm"} +{"id": "MONDO_0002849", "parentIds": ["MONDO_0002397", "EFO_0002918"], "name": "liver rhabdomyosarcoma"} +{"id": "MONDO_0002850", "parentIds": ["MONDO_0002217", "EFO_0002918"], "name": "central nervous system rhabdomyosarcoma"} +{"id": "MONDO_0002851", "parentIds": ["MONDO_0002852", "EFO_0002918"], "name": "mediastinum rhabdomyosarcoma"} {"id": "MONDO_0002852", "parentIds": ["EFO_1001968", "MONDO_0037743"], "name": "mediastinum sarcoma"} +{"id": "MONDO_0002853", "parentIds": ["EFO_0002918", "MONDO_0002168"], "name": "rectum rhabdomyosarcoma"} {"id": "MONDO_0002854", "parentIds": ["MONDO_0008315", "EFO_1001968"], "name": "prostate sarcoma"} {"id": "MONDO_0002855", "parentIds": ["EFO_0007392", "EFO_0000691"], "name": "ectomesenchymoma"} +{"id": "MONDO_0002856", "parentIds": ["MONDO_0002849", "MONDO_0002857"], "name": "gallbladder rhabdomyosarcoma"} +{"id": "MONDO_0002857", "parentIds": ["EFO_1001968", "MONDO_0005411", "MONDO_0002397"], "name": "gallbladder sarcoma"} +{"id": "MONDO_0002858", "parentIds": ["MONDO_0002225", "EFO_0002918"], "name": "ovary rhabdomyosarcoma"} +{"id": "MONDO_0002859", "parentIds": ["EFO_0002918", "MONDO_0002490"], "name": "breast rhabdomyosarcoma"} +{"id": "MONDO_0002860", "parentIds": ["MONDO_0002861", "EFO_0002918"], "name": "testis rhabdomyosarcoma"} +{"id": "MONDO_0002861", "parentIds": ["EFO_0005088", "EFO_1001968"], "name": "testis sarcoma"} +{"id": "MONDO_0002862", "parentIds": ["MONDO_0002397", "MONDO_0003059"], "name": "bile duct sarcoma"} {"id": "MONDO_0002863", "parentIds": ["EFO_0002918"], "name": "rhabdomyosarcoma with mixed embryonal and alveolar features"} +{"id": "MONDO_0002864", "parentIds": ["MONDO_0002865", "MONDO_0002853"], "name": "anus rhabdomyosarcoma"} +{"id": "MONDO_0002865", "parentIds": ["MONDO_0001879", "MONDO_0002168", "EFO_1001968"], "name": "anus sarcoma"} {"id": "MONDO_0002866", "parentIds": ["MONDO_0024635"], "name": "duodenal disorder"} +{"id": "MONDO_0002867", "parentIds": ["EFO_1000044", "EFO_0006387"], "name": "pancreatic cystadenocarcinoma"} +{"id": "MONDO_0002870", "parentIds": ["EFO_0009568", "MONDO_0020674"], "name": "tricuspid valve insufficiency"} {"id": "MONDO_0002871", "parentIds": ["EFO_1000570", "MONDO_0002872", "MONDO_0002874"], "name": "testicular trophoblastic tumor"} {"id": "MONDO_0002872", "parentIds": ["EFO_0000616"], "name": "trophoblastic neoplasm"} {"id": "MONDO_0002874", "parentIds": ["EFO_1000566"], "name": "testicular pure germ cell tumor"} {"id": "MONDO_0002875", "parentIds": ["MONDO_0024610"], "name": "parasitic ectoparasitic infectious disease"} {"id": "MONDO_0002876", "parentIds": ["EFO_0007134", "MONDO_0016277"], "name": "cervical adenosarcoma"} {"id": "MONDO_0002877", "parentIds": ["EFO_1000613", "MONDO_0016277"], "name": "cervical carcinosarcoma"} -{"id": "MONDO_0002878", "parentIds": ["EFO_0007134", "MONDO_0002879"], "name": "uterine corpus adenosarcoma"} +{"id": "MONDO_0002878", "parentIds": ["MONDO_0002879", "EFO_0007134"], "name": "uterine corpus adenosarcoma"} {"id": "MONDO_0002879", "parentIds": ["EFO_0007532", "EFO_1000356", "MONDO_0016255"], "name": "uterine body mixed cancer"} +{"id": "MONDO_0002880", "parentIds": ["EFO_0007134", "MONDO_0008170"], "name": "ovarian adenosarcoma"} +{"id": "MONDO_0002881", "parentIds": ["EFO_0007134", "MONDO_0001402"], "name": "vaginal adenosarcoma"} {"id": "MONDO_0002882", "parentIds": ["EFO_0004288", "MONDO_0002883"], "name": "colon neuroendocrine neoplasm"} {"id": "MONDO_0002883", "parentIds": ["MONDO_0021118", "MONDO_0024503"], "name": "intestinal neuroendocrine neoplasm"} {"id": "MONDO_0002884", "parentIds": ["EFO_0010285"], "name": "nail disorder"} {"id": "MONDO_0002886", "parentIds": ["MONDO_0002887"], "name": "common bile duct disorder"} {"id": "MONDO_0002887", "parentIds": ["EFO_0009534"], "name": "bile duct disorder"} {"id": "MONDO_0002898", "parentIds": ["EFO_0004198", "MONDO_0000653"], "name": "skin cancer"} +{"id": "MONDO_0002900", "parentIds": ["MONDO_0002731", "EFO_0000621", "MONDO_0003142"], "name": "cerebral neuroblastoma"} {"id": "MONDO_0002901", "parentIds": ["EFO_0005803"], "name": "blood group incompatibility"} {"id": "MONDO_0002907", "parentIds": ["EFO_0003763", "MONDO_0000831"], "name": "intracranial thrombosis"} {"id": "MONDO_0002912", "parentIds": ["MONDO_0003107", "EFO_1001767"], "name": "brainstem cancer"} @@ -2461,63 +3424,125 @@ {"id": "MONDO_0002915", "parentIds": ["MONDO_0037736", "MONDO_0021079"], "name": "childhood infratentorial neoplasm"} {"id": "MONDO_0002917", "parentIds": ["EFO_0010285"], "name": "disorder of pilosebaceous unit"} {"id": "MONDO_0002921", "parentIds": ["MONDO_0019952"], "name": "congenital structural myopathy"} +{"id": "MONDO_0002923", "parentIds": ["EFO_0002914", "EFO_1000919"], "name": "uterine corpus endometrial stromal sarcoma"} {"id": "MONDO_0002924", "parentIds": ["EFO_0007384", "EFO_1001185"], "name": "smooth muscle cancer"} {"id": "MONDO_0002927", "parentIds": ["EFO_0000691", "MONDO_0020663"], "name": "spindle cell sarcoma"} {"id": "MONDO_0002928", "parentIds": ["EFO_1000356"], "name": "carcinosarcoma"} {"id": "MONDO_0002930", "parentIds": ["EFO_1001968", "MONDO_0002367"], "name": "kidney sarcoma"} {"id": "MONDO_0002933", "parentIds": ["MONDO_0000833"], "name": "osteosclerosis"} +{"id": "MONDO_0002935", "parentIds": ["MONDO_0018352", "MONDO_0005341"], "name": "penis basal cell carcinoma"} +{"id": "MONDO_0002936", "parentIds": ["MONDO_0001651", "MONDO_0005341"], "name": "scrotum basal cell carcinoma"} +{"id": "MONDO_0002943", "parentIds": ["MONDO_0003501", "MONDO_0005341"], "name": "external ear basal cell carcinoma"} +{"id": "MONDO_0002944", "parentIds": ["MONDO_0003574", "MONDO_0002038"], "name": "external ear carcinoma"} +{"id": "MONDO_0002951", "parentIds": ["MONDO_0005341"], "name": "skin adenoid basal cell carcinoma"} +{"id": "MONDO_0002955", "parentIds": ["MONDO_0005341", "EFO_1000624"], "name": "vulva basal cell carcinoma"} {"id": "MONDO_0002959", "parentIds": ["EFO_0009387"], "name": "radiculopathy"} +{"id": "MONDO_0002962", "parentIds": ["MONDO_0002093"], "name": "epidermolytic acanthoma"} +{"id": "MONDO_0002966", "parentIds": ["MONDO_0004107", "MONDO_0001023", "MONDO_0004699"], "name": "splenic manifestation of prolymphocytic leukemia"} +{"id": "MONDO_0002967", "parentIds": ["MONDO_0004678"], "name": "dermatophytosis of scalp or beard"} +{"id": "MONDO_0002969", "parentIds": ["EFO_1000996", "MONDO_0021229"], "name": "ciliary body cancer"} {"id": "MONDO_0002970", "parentIds": ["MONDO_0002289"], "name": "ciliary body disorder"} {"id": "MONDO_0002973", "parentIds": ["EFO_0000756"], "name": "epithelioid cell melanoma"} {"id": "MONDO_0002974", "parentIds": ["MONDO_0021230", "MONDO_0002715"], "name": "cervical cancer"} +{"id": "MONDO_0002975", "parentIds": ["EFO_0000756", "MONDO_0007254"], "name": "malignant breast melanoma"} {"id": "MONDO_0002977", "parentIds": ["EFO_0000618", "EFO_0005809"], "name": "autoimmune disorder of the nervous system"} {"id": "MONDO_0002979", "parentIds": ["EFO_1000646", "EFO_0000707"], "name": "papillary squamous carcinoma"} +{"id": "MONDO_0002981", "parentIds": ["MONDO_0021123", "EFO_1000350", "MONDO_0018271"], "name": "peripheral primitive neuroectodermal tumor of bone"} {"id": "MONDO_0002989", "parentIds": ["EFO_0005561"], "name": "benign fibrous histiocytoma"} {"id": "MONDO_0002995", "parentIds": ["EFO_1001928", "MONDO_0000386"], "name": "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade"} {"id": "MONDO_0002996", "parentIds": ["MONDO_0002998", "MONDO_0043218", "MONDO_0024499", "MONDO_0021080", "MONDO_0004634"], "name": "cavernous sinus meningioma"} {"id": "MONDO_0002998", "parentIds": ["MONDO_0016642", "MONDO_0002785"], "name": "skull base meningioma"} +{"id": "MONDO_0002999", "parentIds": ["EFO_0000326", "MONDO_0003000", "MONDO_0015935"], "name": "central nervous system germinoma"} {"id": "MONDO_0003000", "parentIds": ["MONDO_0018201", "EFO_1000158"], "name": "central nervous system germ cell tumor"} {"id": "MONDO_0003001", "parentIds": ["EFO_1000352", "MONDO_0020580"], "name": "seminoma"} {"id": "MONDO_0003002", "parentIds": ["EFO_1000352", "MONDO_0020580"], "name": "dysgerminoma"} +{"id": "MONDO_0003003", "parentIds": ["EFO_0007143", "MONDO_0016280"], "name": "cervical alveolar soft part sarcoma"} {"id": "MONDO_0003005", "parentIds": ["MONDO_0004037", "EFO_0009606"], "name": "macular retinal edema"} +{"id": "MONDO_0003007", "parentIds": ["EFO_0005708", "MONDO_0036511"], "name": "childhood kidney cell carcinoma"} {"id": "MONDO_0003008", "parentIds": ["EFO_0005708", "MONDO_0100191"], "name": "hereditary renal cell carcinoma"} +{"id": "MONDO_0003017", "parentIds": ["MONDO_0002087", "MONDO_0037737"], "name": "malignant peritoneal solitary fibrous tumor"} {"id": "MONDO_0003019", "parentIds": ["EFO_0009556", "EFO_0001069"], "name": "potassium deficiency disease"} +{"id": "MONDO_0003021", "parentIds": ["EFO_0003968", "MONDO_0002217", "MONDO_0043218"], "name": "central nervous system angiosarcoma"} +{"id": "MONDO_0003022", "parentIds": ["EFO_0003968", "EFO_1000654"], "name": "pediatric angiosarcoma"} +{"id": "MONDO_0003023", "parentIds": ["MONDO_0004539", "EFO_0003968"], "name": "aorta angiosarcoma"} +{"id": "MONDO_0003024", "parentIds": ["MONDO_0002490", "EFO_0003968"], "name": "breast angiosarcoma"} +{"id": "MONDO_0003026", "parentIds": ["MONDO_0002387", "MONDO_0002857"], "name": "gallbladder angiosarcoma"} +{"id": "MONDO_0003027", "parentIds": ["MONDO_0003028", "EFO_0003968"], "name": "thyroid gland angiosarcoma"} +{"id": "MONDO_0003028", "parentIds": ["EFO_1001968", "MONDO_0002108"], "name": "thyroid sarcoma"} +{"id": "MONDO_0003029", "parentIds": ["EFO_1000531", "EFO_0003968"], "name": "skin angiosarcoma"} +{"id": "MONDO_0003030", "parentIds": ["MONDO_0016280", "MONDO_0003031", "EFO_1000919"], "name": "endometrioid stromal sarcoma of the cervix"} +{"id": "MONDO_0003031", "parentIds": ["MONDO_0021148"], "name": "endometrioid stromal and related neoplasms of the cervix"} +{"id": "MONDO_0003033", "parentIds": ["EFO_0003968", "MONDO_0002854"], "name": "prostate angiosarcoma"} +{"id": "MONDO_0003034", "parentIds": ["EFO_0003968", "MONDO_0002852"], "name": "mediastinum angiosarcoma"} {"id": "MONDO_0003035", "parentIds": ["MONDO_0002225", "EFO_0003968"], "name": "ovarian angiosarcoma"} {"id": "MONDO_0003036", "parentIds": ["EFO_1000889", "EFO_0000197"], "name": "mucoepidermoid carcinoma"} {"id": "MONDO_0003037", "parentIds": ["EFO_0000508", "MONDO_0002917"], "name": "hypotrichosis"} +{"id": "MONDO_0003041", "parentIds": ["EFO_1000654", "EFO_1001041"], "name": "pediatric mesenchymal chondrosarcoma"} +{"id": "MONDO_0003042", "parentIds": ["EFO_1001041"], "name": "adult mesenchymal chondrosarcoma"} +{"id": "MONDO_0003047", "parentIds": ["MONDO_0020516", "EFO_0000563"], "name": "thymic large cell neuroendocrine carcinoma"} {"id": "MONDO_0003049", "parentIds": ["MONDO_0002481", "EFO_0000563", "EFO_0001075"], "name": "ovarian large-cell neuroendocrine carcinoma"} +{"id": "MONDO_0003053", "parentIds": ["EFO_0007206", "MONDO_0002772"], "name": "choroid plexus meningioma"} +{"id": "MONDO_0003054", "parentIds": ["MONDO_0021527", "MONDO_0016642"], "name": "benign meningioma"} +{"id": "MONDO_0003057", "parentIds": ["MONDO_0016642", "MONDO_0021079"], "name": "pediatric meningioma"} {"id": "MONDO_0003059", "parentIds": ["MONDO_0021662", "MONDO_0003060"], "name": "bile duct cancer"} {"id": "MONDO_0003060", "parentIds": ["EFO_0003891", "MONDO_0002691"], "name": "biliary tract cancer"} {"id": "MONDO_0003061", "parentIds": ["MONDO_0021545", "MONDO_0000636"], "name": "benign muscle neoplasm"} {"id": "MONDO_0003062", "parentIds": ["MONDO_0000385", "MONDO_0021118"], "name": "intestinal benign neoplasm"} {"id": "MONDO_0003064", "parentIds": ["EFO_0006497", "MONDO_0002537"], "name": "inverted transitional cell papilloma"} +{"id": "MONDO_0003066", "parentIds": ["EFO_1001179", "MONDO_0001597", "MONDO_0003067"], "name": "submandibular adenitis"} +{"id": "MONDO_0003067", "parentIds": ["MONDO_0002052"], "name": "cervical lymphadenitis"} +{"id": "MONDO_0003073", "parentIds": ["MONDO_0008380"], "name": "trilateral retinoblastoma"} {"id": "MONDO_0003076", "parentIds": ["MONDO_0008380"], "name": "unilateral retinoblastoma"} {"id": "MONDO_0003079", "parentIds": ["EFO_0009000"], "name": "mastocytoma"} {"id": "MONDO_0003081", "parentIds": ["EFO_0005774"], "name": "thalamic disorder"} +{"id": "MONDO_0003086", "parentIds": ["MONDO_0003209", "MONDO_0003036"], "name": "thymic mucoepidermoid carcinoma"} +{"id": "MONDO_0003087", "parentIds": ["EFO_1000307", "EFO_0000304", "MONDO_0003036"], "name": "mucoepidermoid breast carcinoma"} +{"id": "MONDO_0003089", "parentIds": ["MONDO_0002739", "MONDO_0003036"], "name": "extrahepatic bile duct mucoepidermoid carcinoma"} {"id": "MONDO_0003090", "parentIds": ["MONDO_0021321", "EFO_0005540"], "name": "extrahepatic bile duct carcinoma"} +{"id": "MONDO_0003091", "parentIds": ["MONDO_0003036", "EFO_0009259"], "name": "cutaneous mucoepidermoid carcinoma"} +{"id": "MONDO_0003092", "parentIds": ["MONDO_0003036", "MONDO_0002475", "MONDO_0003091"], "name": "lacrimal gland mucoepidermoid carcinoma"} +{"id": "MONDO_0003093", "parentIds": ["EFO_0000478", "MONDO_0003036"], "name": "mucoepidermoid esophageal carcinoma"} +{"id": "MONDO_0003095", "parentIds": ["MONDO_0002358", "MONDO_0003036"], "name": "laryngeal mucoepidermoid carcinoma"} +{"id": "MONDO_0003097", "parentIds": ["MONDO_0021079", "MONDO_0003098"], "name": "childhood mediastinal neurogenic neoplasm"} {"id": "MONDO_0003098", "parentIds": ["MONDO_0021386", "EFO_0002431"], "name": "mediastinal neural neoplasm"} +{"id": "MONDO_0003100", "parentIds": ["EFO_0009559", "EFO_0002431"], "name": "nerve plexus neoplasm"} +{"id": "MONDO_0003103", "parentIds": ["EFO_0002431"], "name": "nerve root neoplasm"} +{"id": "MONDO_0003104", "parentIds": ["MONDO_0021379", "MONDO_0001322"], "name": "epicardium cancer"} {"id": "MONDO_0003107", "parentIds": ["MONDO_0001657"], "name": "infratentorial cancer"} {"id": "MONDO_0003110", "parentIds": ["MONDO_0024666", "EFO_1000635"], "name": "skin hemangioma"} {"id": "MONDO_0003111", "parentIds": ["EFO_0003897", "MONDO_0024503"], "name": "gastric neuroendocrine neoplasm"} {"id": "MONDO_0003112", "parentIds": ["MONDO_0003113", "MONDO_0001056"], "name": "malignant gastric germ cell tumor"} {"id": "MONDO_0003113", "parentIds": ["EFO_1000352", "MONDO_0018201"], "name": "extragonadal germ cell cancer"} -{"id": "MONDO_0003122", "parentIds": ["EFO_1001050", "MONDO_0024237", "MONDO_0019052"], "name": "striatonigral degeneration"} -{"id": "MONDO_0003125", "parentIds": ["EFO_1000052", "MONDO_0018191", "MONDO_0021348"], "name": "testicular sex cord-stromal neoplasm"} +{"id": "MONDO_0003120", "parentIds": ["MONDO_0015864", "MONDO_0003510"], "name": "mixed testicular germ cell cancer"} +{"id": "MONDO_0003122", "parentIds": ["EFO_1001050"], "name": "striatonigral degeneration"} +{"id": "MONDO_0003124", "parentIds": ["EFO_1000321", "MONDO_0003125"], "name": "testicular Leydig cell tumor"} +{"id": "MONDO_0003125", "parentIds": ["EFO_1000052", "MONDO_0021348"], "name": "testicular sex cord-stromal neoplasm"} +{"id": "MONDO_0003126", "parentIds": ["EFO_1000635", "MONDO_0000620"], "name": "breast hemangioma"} +{"id": "MONDO_0003134", "parentIds": ["MONDO_0002462"], "name": "proliferative glomerulonephritis"} {"id": "MONDO_0003142", "parentIds": ["MONDO_0001657", "MONDO_0000640"], "name": "intracranial primitive neuroectodermal tumor"} {"id": "MONDO_0003143", "parentIds": ["MONDO_0003110"], "name": "angiokeratoma"} +{"id": "MONDO_0003145", "parentIds": ["MONDO_0002071"], "name": "supratentorial primitive neuroectodermal tumor"} +{"id": "MONDO_0003153", "parentIds": ["EFO_1000142", "MONDO_0024797"], "name": "adult brainstem glioma"} +{"id": "MONDO_0003154", "parentIds": ["MONDO_0003241", "MONDO_0056804"], "name": "hemangioma of peripheral nerve"} {"id": "MONDO_0003157", "parentIds": ["EFO_0004260"], "name": "disappearing bone disease"} {"id": "MONDO_0003158", "parentIds": ["EFO_0000313", "MONDO_0002380"], "name": "malignant myoepithelioma"} {"id": "MONDO_0003159", "parentIds": ["MONDO_0002243", "EFO_0004264"], "name": "vascular hemostatic disease"} +{"id": "MONDO_0003164", "parentIds": ["MONDO_0003103"], "name": "cauda equina neoplasm"} {"id": "MONDO_0003165", "parentIds": ["MONDO_0021631", "MONDO_0002913"], "name": "cerebellar astrocytoma"} {"id": "MONDO_0003168", "parentIds": ["MONDO_0003165", "MONDO_0000638", "MONDO_0021499", "MONDO_0016691"], "name": "cerebellar pilocytic astrocytoma"} {"id": "MONDO_0003169", "parentIds": ["MONDO_0021631", "MONDO_0002786", "MONDO_0005499"], "name": "diencephalic astrocytomas"} +{"id": "MONDO_0003171", "parentIds": ["MONDO_0003249", "MONDO_0003169"], "name": "pineal gland astrocytoma"} {"id": "MONDO_0003173", "parentIds": ["MONDO_0021631", "EFO_1000142"], "name": "brain stem astrocytic neoplasm"} {"id": "MONDO_0003175", "parentIds": ["MONDO_0000521", "EFO_0000231"], "name": "salivary gland adenoid cystic carcinoma"} +{"id": "MONDO_0003177", "parentIds": ["EFO_0000673", "EFO_0000231"], "name": "prostate adenoid cystic carcinoma"} {"id": "MONDO_0003180", "parentIds": ["EFO_0000231", "EFO_0005591"], "name": "cutaneous adenocystic carcinoma"} {"id": "MONDO_0003181", "parentIds": ["EFO_0000571", "EFO_0000231"], "name": "lung adenoid cystic carcinoma"} {"id": "MONDO_0003182", "parentIds": ["EFO_0009488"], "name": "anterior horn disorder"} +{"id": "MONDO_0003186", "parentIds": ["EFO_0000478", "EFO_0000231"], "name": "esophageal adenoid cystic carcinoma"} +{"id": "MONDO_0003187", "parentIds": ["MONDO_0003853", "EFO_0000231"], "name": "Bartholin gland adenoid cystic carcinoma"} +{"id": "MONDO_0003189", "parentIds": ["EFO_0000228", "MONDO_0003190"], "name": "middle ear adenocarcinoma"} {"id": "MONDO_0003190", "parentIds": ["MONDO_0003275", "MONDO_0002038"], "name": "middle ear carcinoma"} -{"id": "MONDO_0003193", "parentIds": ["MONDO_0018532", "EFO_0005540"], "name": "bile duct adenocarcinoma"} +{"id": "MONDO_0003193", "parentIds": ["EFO_0005540", "EFO_0000228"], "name": "bile duct adenocarcinoma"} {"id": "MONDO_0003194", "parentIds": ["EFO_1000635", "MONDO_0002732"], "name": "hemangioma of lung"} {"id": "MONDO_0003195", "parentIds": ["MONDO_0002113", "EFO_0003825"], "name": "peritoneal serous adenocarcinoma"} {"id": "MONDO_0003196", "parentIds": ["MONDO_0018511", "MONDO_0001235", "EFO_1000021"], "name": "appendix carcinoma"} @@ -2525,23 +3550,35 @@ {"id": "MONDO_0003199", "parentIds": ["MONDO_0044937", "MONDO_0001879"], "name": "anal carcinoma"} {"id": "MONDO_0003200", "parentIds": ["MONDO_0021327", "EFO_0000228"], "name": "urethra adenocarcinoma"} {"id": "MONDO_0003204", "parentIds": ["EFO_0000228"], "name": "villous adenocarcinoma"} +{"id": "MONDO_0003205", "parentIds": ["EFO_0000681", "EFO_0005582"], "name": "renal pelvis adenocarcinoma"} {"id": "MONDO_0003206", "parentIds": ["EFO_1000635"], "name": "acquired hemangioma"} +{"id": "MONDO_0003209", "parentIds": ["EFO_1000576", "EFO_0000228"], "name": "thymus gland adenocarcinoma"} +{"id": "MONDO_0003211", "parentIds": ["MONDO_0003212", "EFO_0000228"], "name": "nasal cavity adenocarcinoma"} {"id": "MONDO_0003212", "parentIds": ["MONDO_0001128", "MONDO_0002038"], "name": "nasal cavity carcinoma"} {"id": "MONDO_0003214", "parentIds": ["MONDO_0003215", "EFO_0005591"], "name": "apocrine adenocarcinoma"} {"id": "MONDO_0003215", "parentIds": ["MONDO_0003686", "MONDO_0002206"], "name": "apocrine sweat gland cancer"} +{"id": "MONDO_0003216", "parentIds": ["EFO_0000681", "EFO_0000228", "EFO_1000609"], "name": "ureter adenocarcinoma"} {"id": "MONDO_0003218", "parentIds": ["EFO_0000228", "MONDO_0004647"], "name": "adenocarcinoma in situ"} {"id": "MONDO_0003219", "parentIds": ["EFO_1000218", "EFO_0000228"], "name": "gastroesophageal junction adenocarcinoma"} {"id": "MONDO_0003222", "parentIds": ["MONDO_0021143", "EFO_0000326"], "name": "central nervous system melanocytic neoplasm"} -{"id": "MONDO_0003223", "parentIds": ["MONDO_0021322", "MONDO_0005094"], "name": "meninges hemangiopericytoma"} +{"id": "MONDO_0003223", "parentIds": ["MONDO_0021322", "MONDO_0002095", "MONDO_0005094", "MONDO_0043218"], "name": "meninges hemangiopericytoma"} {"id": "MONDO_0003225", "parentIds": ["EFO_0002461", "EFO_0000540", "EFO_0005803"], "name": "bone marrow disorder"} +{"id": "MONDO_0003234", "parentIds": ["MONDO_0003766", "MONDO_0024649", "EFO_0009254", "EFO_1000884"], "name": "optic nerve astrocytoma"} {"id": "MONDO_0003236", "parentIds": ["EFO_0007133"], "name": "atypical polypoid adenomyoma"} {"id": "MONDO_0003237", "parentIds": ["EFO_0007133", "MONDO_0021525"], "name": "adenomyoma of uterine corpus"} {"id": "MONDO_0003241", "parentIds": ["MONDO_0000628", "MONDO_0043218", "EFO_1000635"], "name": "central nervous system hemangioma"} {"id": "MONDO_0003243", "parentIds": ["EFO_0000348", "EFO_0000182"], "name": "hepatocellular clear cell carcinoma"} {"id": "MONDO_0003244", "parentIds": ["EFO_1000541"], "name": "central nervous system mesenchymal non-meningothelial tumor"} +{"id": "MONDO_0003248", "parentIds": ["MONDO_0024890"], "name": "adult pineal parenchymal tumor"} {"id": "MONDO_0003249", "parentIds": ["MONDO_0021069", "MONDO_0003766", "MONDO_0021232"], "name": "pineal gland cancer"} +{"id": "MONDO_0003250", "parentIds": ["MONDO_0000638", "MONDO_0056804", "EFO_1000284"], "name": "benign granular cell tumor"} +{"id": "MONDO_0003251", "parentIds": ["MONDO_0021355", "EFO_1000284"], "name": "esophageal granular cell tumor"} {"id": "MONDO_0003252", "parentIds": ["MONDO_0021089", "MONDO_0100342", "EFO_1000284"], "name": "granular cell cancer"} +{"id": "MONDO_0003253", "parentIds": ["MONDO_0021049", "EFO_1000284"], "name": "vulvar granular cell tumor"} +{"id": "MONDO_0003254", "parentIds": ["MONDO_0021508", "MONDO_0003250"], "name": "cardiac granular cell neoplasm"} +{"id": "MONDO_0003255", "parentIds": ["EFO_1000284", "MONDO_0021386"], "name": "mediastinal granular cell myoblastoma"} {"id": "MONDO_0003257", "parentIds": ["MONDO_0017611", "MONDO_0100070"], "name": "posterior pituitary gland neoplasm"} +{"id": "MONDO_0003260", "parentIds": ["MONDO_0002913"], "name": "adult cerebellar neoplasm"} {"id": "MONDO_0003263", "parentIds": ["MONDO_0002913", "MONDO_0002915"], "name": "childhood cerebellar neoplasm"} {"id": "MONDO_0003265", "parentIds": ["EFO_0000677"], "name": "adjustment disorder"} {"id": "MONDO_0003268", "parentIds": ["MONDO_0021043", "EFO_0005543"], "name": "mixed glioma"} @@ -2549,213 +3586,616 @@ {"id": "MONDO_0003275", "parentIds": ["MONDO_0004532", "MONDO_0003277", "MONDO_0021366"], "name": "middle ear cancer"} {"id": "MONDO_0003276", "parentIds": ["MONDO_0021205", "EFO_1001455"], "name": "middle ear disorder"} {"id": "MONDO_0003277", "parentIds": ["EFO_0006859", "MONDO_0021233", "MONDO_0000649"], "name": "malignant ear neoplasm"} +{"id": "MONDO_0003278", "parentIds": ["MONDO_0003277", "MONDO_0024320", "MONDO_0004532"], "name": "inner ear cancer"} +{"id": "MONDO_0003281", "parentIds": ["MONDO_0002379", "EFO_1000419"], "name": "ovarian cystic teratoma"} +{"id": "MONDO_0003284", "parentIds": ["MONDO_0021521", "MONDO_0001572"], "name": "mediastinum leiomyoma"} +{"id": "MONDO_0003285", "parentIds": ["MONDO_0001572", "MONDO_0000645"], "name": "fallopian tube leiomyoma"} +{"id": "MONDO_0003286", "parentIds": ["MONDO_0004723", "MONDO_0021385"], "name": "extrahepatic bile duct leiomyoma"} +{"id": "MONDO_0003287", "parentIds": ["MONDO_0001572", "MONDO_0000628"], "name": "central nervous system leiomyoma"} {"id": "MONDO_0003291", "parentIds": ["MONDO_0021440", "MONDO_0002300", "MONDO_0001572"], "name": "leiomyoma cutis"} +{"id": "MONDO_0003292", "parentIds": ["MONDO_0004125", "MONDO_0021469"], "name": "anus leiomyoma"} +{"id": "MONDO_0003293", "parentIds": ["MONDO_0002732", "MONDO_0001572"], "name": "lung leiomyoma"} +{"id": "MONDO_0003294", "parentIds": ["MONDO_0001572", "MONDO_0021514"], "name": "pericardium leiomyoma"} {"id": "MONDO_0003295", "parentIds": ["MONDO_0001572"], "name": "leiomyomatosis"} +{"id": "MONDO_0003297", "parentIds": ["MONDO_0004723", "MONDO_0021503", "MONDO_0001572"], "name": "gallbladder leiomyoma"} +{"id": "MONDO_0003298", "parentIds": ["MONDO_0001572", "MONDO_0000643"], "name": "vulvar leiomyoma"} +{"id": "MONDO_0003299", "parentIds": ["MONDO_0001572", "EFO_0004142", "MONDO_0021444"], "name": "colorectal leiomyoma"} +{"id": "MONDO_0003300", "parentIds": ["MONDO_0001092", "MONDO_0021465"], "name": "appendix leiomyoma"} +{"id": "MONDO_0003312", "parentIds": ["MONDO_0037742", "EFO_0003893"], "name": "ovarian endometrioid stromal and related neoplasms"} +{"id": "MONDO_0003313", "parentIds": ["MONDO_0002140", "EFO_1000919", "MONDO_0003314"], "name": "endometrioid stromal sarcoma of the vagina"} +{"id": "MONDO_0003314", "parentIds": ["EFO_1001447", "MONDO_0037742"], "name": "endometrioid stromal and related neoplasms of the vagina"} +{"id": "MONDO_0003315", "parentIds": ["EFO_1001512", "MONDO_0004710"], "name": "endometrium carcinoma in situ"} +{"id": "MONDO_0003319", "parentIds": ["MONDO_0045003", "MONDO_0024582"], "name": "scrotum neoplasm"} {"id": "MONDO_0003321", "parentIds": ["MONDO_0019004", "MONDO_0100191"], "name": "hereditary Wilms tumor"} +{"id": "MONDO_0003327", "parentIds": ["EFO_0002431", "EFO_0000502"], "name": "peripheral ganglioneuroblastoma"} {"id": "MONDO_0003331", "parentIds": ["EFO_0006463"], "name": "ovarian monodermal teratoma"} +{"id": "MONDO_0003332", "parentIds": ["MONDO_0018369", "EFO_1001192", "EFO_1000563"], "name": "malignant struma ovarii"} +{"id": "MONDO_0003333", "parentIds": ["EFO_1000116", "EFO_1001192", "MONDO_0021447"], "name": "benign struma ovarii"} {"id": "MONDO_0003334", "parentIds": ["MONDO_0002562", "EFO_0009562"], "name": "demyelinating polyneuropathy"} {"id": "MONDO_0003335", "parentIds": ["EFO_0009562"], "name": "chronic polyneuropathy"} {"id": "MONDO_0003337", "parentIds": ["EFO_0007538"], "name": "acute hemorrhagic encephalitis"} +{"id": "MONDO_0003340", "parentIds": ["MONDO_0018327", "MONDO_0004992"], "name": "malignant glomus tumor"} {"id": "MONDO_0003342", "parentIds": ["EFO_0002422", "MONDO_0002604"], "name": "benign perivascular tumor"} +{"id": "MONDO_0003343", "parentIds": ["MONDO_0002311", "MONDO_0021541", "MONDO_0016748"], "name": "retinal hemangioblastoma"} {"id": "MONDO_0003346", "parentIds": ["EFO_0006803", "MONDO_0043218", "EFO_0009386"], "name": "central nervous system vasculitis"} -{"id": "MONDO_0003349", "parentIds": ["MONDO_0037740", "EFO_0000564", "MONDO_0002217"], "name": "central nervous system leiomyosarcoma"} +{"id": "MONDO_0003349", "parentIds": ["MONDO_0037740", "EFO_1001456", "EFO_0000564", "MONDO_0002217"], "name": "central nervous system leiomyosarcoma"} {"id": "MONDO_0003350", "parentIds": ["MONDO_0003349", "MONDO_0003252"], "name": "granular cell leiomyosarcoma"} +{"id": "MONDO_0003351", "parentIds": ["MONDO_0043424", "MONDO_0003352", "EFO_0000564"], "name": "colon leiomyosarcoma"} +{"id": "MONDO_0003352", "parentIds": ["EFO_0000691", "MONDO_0021063"], "name": "colon sarcoma"} {"id": "MONDO_0003353", "parentIds": ["MONDO_0003354", "EFO_0000564"], "name": "heart leiomyosarcoma"} {"id": "MONDO_0003354", "parentIds": ["EFO_1001968", "MONDO_0001340"], "name": "heart sarcoma"} +{"id": "MONDO_0003357", "parentIds": ["MONDO_0024355", "EFO_0000564", "MONDO_0002426"], "name": "lung leiomyosarcoma"} +{"id": "MONDO_0003358", "parentIds": ["MONDO_0002865", "MONDO_0003379"], "name": "anus leiomyosarcoma"} +{"id": "MONDO_0003360", "parentIds": ["EFO_0000564", "MONDO_0003361", "MONDO_0018506", "MONDO_0043424"], "name": "small intestine leiomyosarcoma"} +{"id": "MONDO_0003361", "parentIds": ["MONDO_0000956", "EFO_1001968"], "name": "small intestinal sarcoma"} +{"id": "MONDO_0003362", "parentIds": ["EFO_1000531", "EFO_0000564", "MONDO_0024294"], "name": "cutaneous leiomyosarcoma"} {"id": "MONDO_0003363", "parentIds": ["MONDO_0002300", "MONDO_0002898"], "name": "malignant dermis tumor"} +{"id": "MONDO_0003364", "parentIds": ["MONDO_0003378", "MONDO_0002857"], "name": "gallbladder leiomyosarcoma"} +{"id": "MONDO_0003365", "parentIds": ["EFO_0000564", "MONDO_0001204", "MONDO_0043424"], "name": "esophagus leiomyosarcoma"} {"id": "MONDO_0003366", "parentIds": ["EFO_1000999"], "name": "hydrarthrosis"} +{"id": "MONDO_0003367", "parentIds": ["EFO_0000564", "MONDO_0001056", "MONDO_0043424"], "name": "gastric leiomyosarcoma"} +{"id": "MONDO_0003368", "parentIds": ["MONDO_0002854", "EFO_0000564"], "name": "prostate leiomyosarcoma"} +{"id": "MONDO_0003369", "parentIds": ["MONDO_0002140", "EFO_0000564"], "name": "vagina leiomyosarcoma"} +{"id": "MONDO_0003370", "parentIds": ["EFO_0000564", "MONDO_0001501"], "name": "retroperitoneal leiomyosarcoma"} +{"id": "MONDO_0003371", "parentIds": ["MONDO_0002490", "EFO_0000564"], "name": "breast leiomyosarcoma"} +{"id": "MONDO_0003373", "parentIds": ["EFO_0003103", "MONDO_0002930", "EFO_0000564"], "name": "kidney leiomyosarcoma"} +{"id": "MONDO_0003374", "parentIds": ["MONDO_0024355", "MONDO_0002448", "EFO_0000564"], "name": "laryngeal leiomyosarcoma"} {"id": "MONDO_0003376", "parentIds": ["MONDO_0002852", "EFO_0000564"], "name": "mediastinum leiomyosarcoma"} +{"id": "MONDO_0003377", "parentIds": ["MONDO_0003090", "MONDO_0024658", "MONDO_0003378"], "name": "extrahepatic bile duct leiomyosarcoma"} +{"id": "MONDO_0003378", "parentIds": ["EFO_0000564", "MONDO_0043424", "MONDO_0002397"], "name": "liver leiomyosarcoma"} +{"id": "MONDO_0003379", "parentIds": ["MONDO_0043424", "EFO_0000564", "MONDO_0002168"], "name": "rectum leiomyosarcoma"} +{"id": "MONDO_0003383", "parentIds": ["EFO_0000348", "MONDO_0002746"], "name": "fallopian tube clear cell adenocarcinoma"} +{"id": "MONDO_0003384", "parentIds": ["MONDO_0002741", "EFO_1000163"], "name": "uterine ligament clear cell adenocarcinoma"} +{"id": "MONDO_0003386", "parentIds": ["EFO_1000125", "EFO_0000348"], "name": "bladder clear cell adenocarcinoma"} +{"id": "MONDO_0003387", "parentIds": ["EFO_0000348", "MONDO_0003200"], "name": "urethra clear cell adenocarcinoma"} +{"id": "MONDO_0003388", "parentIds": ["MONDO_0004081", "EFO_0008490"], "name": "ampulla of vater clear cell adenocarcinoma"} +{"id": "MONDO_0003391", "parentIds": ["EFO_0007143", "EFO_0002920"], "name": "vulvar alveolar soft part sarcoma"} +{"id": "MONDO_0003392", "parentIds": ["EFO_0000514", "MONDO_0021092"], "name": "fallopian tube germ cell tumor"} {"id": "MONDO_0003393", "parentIds": ["EFO_0000540", "EFO_0001379", "EFO_0005803"], "name": "thymus gland disorder"} +{"id": "MONDO_0003395", "parentIds": ["EFO_1000032", "MONDO_0003125"], "name": "testicular granulosa cell tumor"} +{"id": "MONDO_0003396", "parentIds": ["MONDO_0002507", "EFO_0000662"], "name": "epulis"} +{"id": "MONDO_0003399", "parentIds": ["MONDO_0002073", "MONDO_0003401"], "name": "pineal region yolk sac tumor"} +{"id": "MONDO_0003400", "parentIds": ["MONDO_0004479", "EFO_0007252"], "name": "childhood endodermal sinus tumor"} +{"id": "MONDO_0003401", "parentIds": ["MONDO_0016739", "EFO_0000326", "MONDO_0020574", "MONDO_0003400", "MONDO_0003750"], "name": "central nervous system endodermal sinus tumor"} {"id": "MONDO_0003403", "parentIds": ["MONDO_0003510", "EFO_1000570"], "name": "testicular non-seminomatous germ cell cancer"} +{"id": "MONDO_0003404", "parentIds": ["EFO_0007252", "MONDO_0044878"], "name": "adult yolk sac tumor"} +{"id": "MONDO_0003405", "parentIds": ["MONDO_0044878", "MONDO_0003000"], "name": "adult central nervous system germ cell tumor"} {"id": "MONDO_0003406", "parentIds": ["EFO_0008568"], "name": "sleep-wake disorder"} {"id": "MONDO_0003408", "parentIds": ["MONDO_0018171"], "name": "ovarian primitive germ cell tumor"} {"id": "MONDO_0003409", "parentIds": ["MONDO_0024634"], "name": "colonic disorder"} +{"id": "MONDO_0003410", "parentIds": ["EFO_0006719", "EFO_0000681", "EFO_0001416", "MONDO_0024888"], "name": "Wolffian duct adenocarcinoma"} +{"id": "MONDO_0003411", "parentIds": ["MONDO_0005094", "EFO_0003869"], "name": "breast hemangiopericytoma"} +{"id": "MONDO_0003412", "parentIds": ["MONDO_0005094", "MONDO_0024645"], "name": "retroperitoneal hemangiopericytoma"} {"id": "MONDO_0003413", "parentIds": ["MONDO_0002917", "MONDO_0002297"], "name": "hair follicle neoplasm"} +{"id": "MONDO_0003419", "parentIds": ["MONDO_0002198", "MONDO_0036976", "MONDO_0002193", "EFO_0000232"], "name": "Bartholin gland adenoma"} +{"id": "MONDO_0003420", "parentIds": ["MONDO_0002369", "EFO_1000123"], "name": "bile duct cystadenoma"} +{"id": "MONDO_0003422", "parentIds": ["EFO_0000232", "MONDO_0036976", "MONDO_0002732"], "name": "lung adenoma"} +{"id": "MONDO_0003423", "parentIds": ["EFO_0000232", "MONDO_0021482", "MONDO_0036976"], "name": "middle ear adenoma"} +{"id": "MONDO_0003425", "parentIds": ["EFO_1000631", "EFO_1001990"], "name": "ophthalmoplegia"} +{"id": "MONDO_0003427", "parentIds": ["MONDO_0003422", "MONDO_0002533", "EFO_1000849"], "name": "bronchus adenoma"} +{"id": "MONDO_0003428", "parentIds": ["MONDO_0002328"], "name": "brain hemangioma"} {"id": "MONDO_0003429", "parentIds": ["MONDO_0003604", "EFO_1000478"], "name": "functioning pituitary gland adenoma"} {"id": "MONDO_0003430", "parentIds": ["MONDO_0017611"], "name": "prolactin producing pituitary tumor"} +{"id": "MONDO_0003431", "parentIds": ["EFO_0000232"], "name": "lipoadenoma"} +{"id": "MONDO_0003434", "parentIds": ["MONDO_0001704", "EFO_0000232"], "name": "vaginal adenoma"} {"id": "MONDO_0003438", "parentIds": ["EFO_1000200", "EFO_0000702"], "name": "combined small cell lung carcinoma"} -{"id": "MONDO_0003441", "parentIds": ["EFO_0004280"], "name": "dystonic disorder"} +{"id": "MONDO_0003439", "parentIds": ["MONDO_0000502", "EFO_0000294"], "name": "urinary bladder villous adenoma"} +{"id": "MONDO_0003441", "parentIds": ["MONDO_0001815"], "name": "dystonic disorder"} +{"id": "MONDO_0003442", "parentIds": ["EFO_0000294", "MONDO_0003443"], "name": "bladder papillary urothelial neoplasm"} {"id": "MONDO_0003443", "parentIds": ["MONDO_0021096", "MONDO_0024337"], "name": "papillary urothelial neoplasm"} +{"id": "MONDO_0003444", "parentIds": ["EFO_1000123"], "name": "intrahepatic bile duct adenoma"} +{"id": "MONDO_0003445", "parentIds": ["MONDO_0021385", "EFO_1000123"], "name": "extrahepatic bile duct adenoma"} {"id": "MONDO_0003446", "parentIds": ["MONDO_0002805"], "name": "papillary hidradenoma"} {"id": "MONDO_0003448", "parentIds": ["MONDO_0021489"], "name": "benign spiradenoma"} +{"id": "MONDO_0003450", "parentIds": ["MONDO_0002533", "MONDO_0021110", "MONDO_0002090"], "name": "eccrine papillary adenoma"} {"id": "MONDO_0003453", "parentIds": ["MONDO_0020204", "MONDO_0024475"], "name": "conjunctival intraepithelial neoplasm"} {"id": "MONDO_0003454", "parentIds": ["MONDO_0002236", "MONDO_0020204"], "name": "conjunctival cancer"} {"id": "MONDO_0003455", "parentIds": ["MONDO_0000385", "MONDO_0000627", "MONDO_0021662", "MONDO_0002060"], "name": "bile duct papillary neoplasm"} +{"id": "MONDO_0003458", "parentIds": ["EFO_1000070", "MONDO_0021525"], "name": "uterine corpus adenofibroma"} +{"id": "MONDO_0003461", "parentIds": ["MONDO_0024886", "MONDO_0000645"], "name": "fallopian tube serous adenofibroma"} +{"id": "MONDO_0003464", "parentIds": ["EFO_1000070"], "name": "cystadenofibroma"} +{"id": "MONDO_0003466", "parentIds": ["MONDO_0002927", "EFO_0000595"], "name": "spindle cell synovial sarcoma"} +{"id": "MONDO_0003467", "parentIds": ["MONDO_0002852", "EFO_0001376"], "name": "mediastinum synovial sarcoma"} {"id": "MONDO_0003468", "parentIds": ["EFO_0001376"], "name": "biphasic synovial sarcoma"} {"id": "MONDO_0003472", "parentIds": ["MONDO_0002875"], "name": "lice infestation"} {"id": "MONDO_0003473", "parentIds": ["MONDO_0021546", "EFO_1000028"], "name": "spinal cord ependymoma"} +{"id": "MONDO_0003477", "parentIds": ["EFO_1000028", "EFO_1000142", "MONDO_0004245"], "name": "brain stem ependymoma"} {"id": "MONDO_0003478", "parentIds": ["MONDO_0021079", "EFO_1000028"], "name": "childhood ependymoma"} +{"id": "MONDO_0003480", "parentIds": ["MONDO_0003002", "MONDO_0002073"], "name": "pineal region dysgerminoma"} +{"id": "MONDO_0003482", "parentIds": ["MONDO_0003472"], "name": "Pediculus humanus corporis infestation"} +{"id": "MONDO_0003490", "parentIds": ["EFO_1000248", "EFO_1000079", "MONDO_0018509"], "name": "ampulla of vater squamous cell carcinoma"} +{"id": "MONDO_0003492", "parentIds": ["MONDO_0002529", "EFO_0000181", "MONDO_0002463"], "name": "lacrimal gland squamous cell carcinoma"} {"id": "MONDO_0003495", "parentIds": ["MONDO_0002532", "MONDO_0002229"], "name": "ovarian squamous cell neoplasm"} +{"id": "MONDO_0003497", "parentIds": ["EFO_0005582", "EFO_0000707"], "name": "renal pelvis squamous cell carcinoma"} {"id": "MONDO_0003500", "parentIds": ["EFO_0005540", "MONDO_0018534"], "name": "squamous cell bile duct carcinoma"} +{"id": "MONDO_0003501", "parentIds": ["EFO_0000181", "MONDO_0002944"], "name": "external ear squamous cell carcinoma"} +{"id": "MONDO_0003502", "parentIds": ["EFO_0000707", "EFO_1000609"], "name": "ureter squamous cell carcinoma"} +{"id": "MONDO_0003503", "parentIds": ["EFO_0000707", "EFO_1000251"], "name": "fallopian tube squamous cell carcinoma"} +{"id": "MONDO_0003504", "parentIds": ["MONDO_0003646", "MONDO_0007108", "MONDO_0002120"], "name": "anal canal neuroendocrine neoplasm"} +{"id": "MONDO_0003506", "parentIds": ["EFO_1000352", "MONDO_0002149", "MONDO_0000473", "EFO_0002893", "MONDO_0040676"], "name": "pulmonary artery choriocarcinoma"} +{"id": "MONDO_0003509", "parentIds": ["MONDO_0016740", "MONDO_0002073"], "name": "pineal region choriocarcinoma"} {"id": "MONDO_0003510", "parentIds": ["EFO_1000352", "EFO_0005088", "EFO_1000566"], "name": "malignant testicular germ cell tumor"} {"id": "MONDO_0003512", "parentIds": ["MONDO_0021386", "EFO_1000541"], "name": "mediastinal mesenchymal tumor"} +{"id": "MONDO_0003513", "parentIds": ["MONDO_0002601", "EFO_0003897"], "name": "gastric teratoma"} +{"id": "MONDO_0003514", "parentIds": ["EFO_1000352", "MONDO_0002601"], "name": "malignant teratoma"} +{"id": "MONDO_0003515", "parentIds": ["MONDO_0002601", "MONDO_0003392"], "name": "fallopian tube teratoma"} +{"id": "MONDO_0003516", "parentIds": ["MONDO_0044878", "MONDO_0002601"], "name": "adult teratoma"} +{"id": "MONDO_0003518", "parentIds": ["MONDO_0021067", "MONDO_0020539", "MONDO_0002601"], "name": "mediastinum teratoma"} {"id": "MONDO_0003519", "parentIds": ["MONDO_0002206", "MONDO_0002191"], "name": "malignant syringoma"} {"id": "MONDO_0003523", "parentIds": ["MONDO_0000386"], "name": "gastrin-producing neuroendocrine tumor"} +{"id": "MONDO_0003524", "parentIds": ["MONDO_0015062", "MONDO_0003523"], "name": "gastric gastrin-producing neuroendocrine tumor"} +{"id": "MONDO_0003525", "parentIds": ["EFO_1000045", "MONDO_0003523"], "name": "pancreatic gastrin-producing neuroendocrine tumor"} +{"id": "MONDO_0003529", "parentIds": ["EFO_1001141"], "name": "acute pyelonephritis"} {"id": "MONDO_0003531", "parentIds": ["MONDO_0002512", "MONDO_0024240"], "name": "papillary eccrine carcinoma"} +{"id": "MONDO_0003532", "parentIds": ["EFO_0006318", "MONDO_0002512"], "name": "breast papillary carcinoma"} +{"id": "MONDO_0003534", "parentIds": ["MONDO_0003209", "MONDO_0002512"], "name": "papillary thymic adenocarcinoma"} +{"id": "MONDO_0003535", "parentIds": ["MONDO_0002746", "MONDO_0002512"], "name": "fallopian tube papillary adenocarcinoma"} {"id": "MONDO_0003537", "parentIds": ["EFO_0009119", "MONDO_0024615"], "name": "precursor T-lymphoblastic lymphoma/leukemia"} -{"id": "MONDO_0003540", "parentIds": ["EFO_0005592", "EFO_0000220"], "name": "acute T cell leukemia"} {"id": "MONDO_0003541", "parentIds": ["EFO_0000220"], "name": "adult acute lymphoblastic leukemia"} {"id": "MONDO_0003544", "parentIds": ["EFO_0000326", "EFO_0003828"], "name": "spinal cord cancer"} {"id": "MONDO_0003546", "parentIds": ["MONDO_0003569", "EFO_0009387"], "name": "third cranial nerve disorder"} +{"id": "MONDO_0003548", "parentIds": ["EFO_1000053", "EFO_1000073"], "name": "adenosquamous breast carcinoma"} {"id": "MONDO_0003549", "parentIds": ["MONDO_0003500", "MONDO_0056815"], "name": "adenosquamous bile duct carcinoma"} +{"id": "MONDO_0003550", "parentIds": ["EFO_0005922", "EFO_1000073"], "name": "esophageal adenosquamous carcinoma"} +{"id": "MONDO_0003551", "parentIds": ["EFO_1000579", "EFO_1000073"], "name": "thymic adenosquamous carcinoma"} +{"id": "MONDO_0003553", "parentIds": ["EFO_1000247", "MONDO_0003490"], "name": "ampulla of vater adenosquamous carcinoma"} +{"id": "MONDO_0003554", "parentIds": ["EFO_1000190", "MONDO_0018513"], "name": "adenosquamous colon carcinoma"} +{"id": "MONDO_0003555", "parentIds": ["EFO_1000104", "EFO_1000073"], "name": "Bartholin gland adenosquamous carcinoma"} +{"id": "MONDO_0003558", "parentIds": ["EFO_1000073", "MONDO_0000993"], "name": "adenosquamous prostate carcinoma"} {"id": "MONDO_0003561", "parentIds": ["MONDO_0002402", "EFO_1001972"], "name": "malignant giant cell tumor of soft parts"} +{"id": "MONDO_0003565", "parentIds": ["EFO_0003846", "MONDO_0000502"], "name": "urethral villous adenoma"} {"id": "MONDO_0003569", "parentIds": ["EFO_0000618"], "name": "cranial nerve neuropathy"} {"id": "MONDO_0003572", "parentIds": ["MONDO_0005232"], "name": "nasopharyngeal type undifferentiated carcinoma"} +{"id": "MONDO_0003574", "parentIds": ["MONDO_0021235", "MONDO_0004532", "MONDO_0003277"], "name": "external ear cancer"} {"id": "MONDO_0003578", "parentIds": ["MONDO_0020539", "MONDO_0003113"], "name": "extragonadal nonseminomatous germ cell tumor"} {"id": "MONDO_0003582", "parentIds": ["MONDO_0000426", "MONDO_0015356"], "name": "hereditary breast ovarian cancer syndrome"} +{"id": "MONDO_0003585", "parentIds": ["EFO_0000569"], "name": "adult liposarcoma"} +{"id": "MONDO_0003586", "parentIds": ["MONDO_0001204", "EFO_0000569"], "name": "esophagus liposarcoma"} +{"id": "MONDO_0003587", "parentIds": ["EFO_1000654", "EFO_0000569"], "name": "pediatric liposarcoma"} +{"id": "MONDO_0003588", "parentIds": ["EFO_0000569", "MONDO_0002448"], "name": "larynx liposarcoma"} +{"id": "MONDO_0003589", "parentIds": ["MONDO_0002225", "EFO_0000569"], "name": "liposarcoma of the ovary"} +{"id": "MONDO_0003591", "parentIds": ["EFO_0000569", "MONDO_0002930"], "name": "kidney liposarcoma"} +{"id": "MONDO_0003592", "parentIds": ["EFO_0000569", "MONDO_0001056"], "name": "gastric liposarcoma"} +{"id": "MONDO_0003593", "parentIds": ["EFO_0000569", "MONDO_0002490"], "name": "breast liposarcoma"} {"id": "MONDO_0003594", "parentIds": ["EFO_0000569"], "name": "mixed liposarcoma"} +{"id": "MONDO_0003596", "parentIds": ["MONDO_0002927", "EFO_0000736"], "name": "spindle cell liposarcoma"} +{"id": "MONDO_0003599", "parentIds": ["EFO_0000569", "EFO_0002920"], "name": "vulvar liposarcoma"} +{"id": "MONDO_0003600", "parentIds": ["EFO_1000531", "EFO_0000569"], "name": "cutaneous liposarcoma"} +{"id": "MONDO_0003601", "parentIds": ["MONDO_0002852", "EFO_0000569"], "name": "mediastinum liposarcoma"} {"id": "MONDO_0003603", "parentIds": ["MONDO_0017611", "MONDO_0021119"], "name": "non-functioning pituitary gland neoplasm"} {"id": "MONDO_0003604", "parentIds": ["MONDO_0017611", "MONDO_0021120"], "name": "functioning pituitary gland neoplasm"} {"id": "MONDO_0003606", "parentIds": ["MONDO_0002817", "MONDO_0021237"], "name": "adrenal medulla cancer"} {"id": "MONDO_0003607", "parentIds": ["MONDO_0002122"], "name": "neuritis of upper limb"} {"id": "MONDO_0003608", "parentIds": ["MONDO_0002135"], "name": "optic atrophy"} +{"id": "MONDO_0003611", "parentIds": ["MONDO_0021629", "MONDO_0021091"], "name": "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease"} +{"id": "MONDO_0003612", "parentIds": ["MONDO_0000637", "MONDO_0021629", "MONDO_0002974"], "name": "uterine ligament cancer"} +{"id": "MONDO_0003617", "parentIds": ["MONDO_0003619"], "name": "chronic salpingitis"} {"id": "MONDO_0003619", "parentIds": ["EFO_1001388", "EFO_0009548"], "name": "salpingitis"} {"id": "MONDO_0003624", "parentIds": ["EFO_0000216", "EFO_0000186"], "name": "acinic cell breast carcinoma"} +{"id": "MONDO_0003626", "parentIds": ["MONDO_0003631", "MONDO_0002741"], "name": "uterine ligament serous adenocarcinoma"} +{"id": "MONDO_0003627", "parentIds": ["MONDO_0000589", "EFO_0009564", "MONDO_0000603", "EFO_0005755"], "name": "rheumatic pulmonary valve disease"} +{"id": "MONDO_0003629", "parentIds": ["EFO_0007532", "EFO_0003825", "EFO_0002919"], "name": "uterine corpus serous adenocarcinoma"} +{"id": "MONDO_0003630", "parentIds": ["MONDO_0002810", "MONDO_0002867", "MONDO_0024621"], "name": "pancreatic serous cystadenocarcinoma"} +{"id": "MONDO_0003631", "parentIds": ["EFO_0001416", "EFO_0003825"], "name": "cervical serous adenocarcinoma"} {"id": "MONDO_0003632", "parentIds": ["MONDO_0002345"], "name": "endocervicitis"} +{"id": "MONDO_0003633", "parentIds": ["MONDO_0004992", "EFO_1001042"], "name": "malignant mesenchymoma"} +{"id": "MONDO_0003635", "parentIds": ["EFO_1000307", "EFO_0000304", "EFO_1001171"], "name": "sebaceous breast carcinoma"} +{"id": "MONDO_0003636", "parentIds": ["MONDO_0024336", "EFO_1001171"], "name": "vulvar sebaceous carcinoma"} +{"id": "MONDO_0003638", "parentIds": ["MONDO_0016642", "MONDO_0021322", "MONDO_0008903"], "name": "lung meningioma"} {"id": "MONDO_0003641", "parentIds": ["EFO_1000158", "MONDO_0044881"], "name": "central nervous system hematopoietic neoplasm"} +{"id": "MONDO_0003644", "parentIds": ["MONDO_0024479", "EFO_1000151", "MONDO_0002278"], "name": "cavernous hemangioma of colon"} +{"id": "MONDO_0003646", "parentIds": ["MONDO_0002883", "MONDO_0024476"], "name": "rectum neuroendocrine neoplasm"} {"id": "MONDO_0003649", "parentIds": ["MONDO_0021355", "MONDO_0000386"], "name": "esophageal neuroendocrine tumor"} +{"id": "MONDO_0003654", "parentIds": ["EFO_1001000", "MONDO_0002623"], "name": "childhood parosteal osteosarcoma"} {"id": "MONDO_0003656", "parentIds": ["EFO_0003086"], "name": "hemoglobinuria"} {"id": "MONDO_0003659", "parentIds": ["EFO_0000574", "EFO_1000654"], "name": "pediatric lymphoma"} {"id": "MONDO_0003660", "parentIds": ["EFO_0000574"], "name": "adult lymphoma"} {"id": "MONDO_0003661", "parentIds": ["EFO_0000574", "MONDO_0007254"], "name": "breast lymphoma"} +{"id": "MONDO_0003663", "parentIds": ["EFO_1000164", "MONDO_0002741"], "name": "uterine ligament endometrioid adenocarcinoma"} +{"id": "MONDO_0003666", "parentIds": ["EFO_0000466", "MONDO_0002746"], "name": "fallopian tube endometrioid adenocarcinoma"} {"id": "MONDO_0003668", "parentIds": ["MONDO_0003113", "MONDO_0003001"], "name": "extragonadal seminoma"} {"id": "MONDO_0003680", "parentIds": ["MONDO_0000515", "MONDO_0021054"], "name": "periosteal chondrosarcoma"} {"id": "MONDO_0003681", "parentIds": ["EFO_0000333"], "name": "myxoid chondrosarcoma"} {"id": "MONDO_0003684", "parentIds": ["MONDO_0021054", "MONDO_0000515"], "name": "clear cell chondrosarcoma"} +{"id": "MONDO_0003685", "parentIds": ["EFO_0000514", "MONDO_0024645"], "name": "retroperitoneal germ cell neoplasm"} {"id": "MONDO_0003686", "parentIds": ["EFO_1001204", "EFO_1002046"], "name": "apocrine sweat gland neoplasm"} +{"id": "MONDO_0003687", "parentIds": ["MONDO_0001340", "MONDO_0021378"], "name": "endocardium cancer"} {"id": "MONDO_0003688", "parentIds": ["EFO_0000588"], "name": "well differentiated papillary mesothelioma"} {"id": "MONDO_0003689", "parentIds": ["EFO_0000508", "MONDO_0004139"], "name": "familial hemolytic anemia"} +{"id": "MONDO_0003690", "parentIds": ["MONDO_0016700"], "name": "adult anaplastic ependymoma"} +{"id": "MONDO_0003691", "parentIds": ["EFO_1000654", "MONDO_0003633"], "name": "childhood malignant mesenchymoma"} +{"id": "MONDO_0003692", "parentIds": ["MONDO_0003633"], "name": "adult malignant mesenchymoma"} +{"id": "MONDO_0003697", "parentIds": ["MONDO_0003698"], "name": "non-invasive verrucous carcinoma of the penis"} +{"id": "MONDO_0003698", "parentIds": ["EFO_0007535", "MONDO_0004433"], "name": "penis verrucous carcinoma"} +{"id": "MONDO_0003700", "parentIds": ["MONDO_0003100", "EFO_1000844"], "name": "brachial plexus neoplasm"} +{"id": "MONDO_0003704", "parentIds": ["MONDO_0003295", "EFO_0000731"], "name": "uterine corpus diffuse leiomyomatosis"} {"id": "MONDO_0003710", "parentIds": ["MONDO_0015864", "MONDO_0003408"], "name": "ovarian mixed germ cell neoplasm"} {"id": "MONDO_0003714", "parentIds": ["MONDO_0003715", "EFO_1000130"], "name": "bladder urachal squamous cell carcinoma"} {"id": "MONDO_0003715", "parentIds": ["MONDO_0004986"], "name": "bladder urachal carcinoma"} +{"id": "MONDO_0003716", "parentIds": ["EFO_0003017", "EFO_1000450", "MONDO_0003717"], "name": "renal pelvis papillary urothelial carcinoma"} +{"id": "MONDO_0003717", "parentIds": ["MONDO_0003719", "MONDO_0003443"], "name": "renal pelvis papillary tumor"} {"id": "MONDO_0003719", "parentIds": ["EFO_0003865"], "name": "renal pelvis neoplasm"} +{"id": "MONDO_0003720", "parentIds": ["MONDO_0002930", "EFO_0002087"], "name": "kidney fibrosarcoma"} +{"id": "MONDO_0003721", "parentIds": ["MONDO_0002621", "MONDO_0002930"], "name": "kidney osteogenic sarcoma"} {"id": "MONDO_0003724", "parentIds": ["EFO_0003014"], "name": "non-proliferative fibrocystic change of the breast"} +{"id": "MONDO_0003728", "parentIds": ["MONDO_0002490", "EFO_0002087"], "name": "breast fibrosarcoma"} +{"id": "MONDO_0003731", "parentIds": ["MONDO_0003405", "MONDO_0003516", "MONDO_0002718"], "name": "adult central nervous system teratoma"} +{"id": "MONDO_0003734", "parentIds": ["MONDO_0003731", "MONDO_0003735"], "name": "adult central nervous system immature teratoma"} {"id": "MONDO_0003735", "parentIds": ["MONDO_0002718"], "name": "central nervous system immature teratoma"} +{"id": "MONDO_0003737", "parentIds": ["EFO_0005088", "MONDO_0003124", "MONDO_0000377"], "name": "malignant testicular Leydig cell tumor"} {"id": "MONDO_0003739", "parentIds": ["MONDO_0002211"], "name": "selective immunoglobulin deficiency disease"} +{"id": "MONDO_0003741", "parentIds": ["MONDO_0003395"], "name": "juvenile type testicular granulosa cell tumor"} +{"id": "MONDO_0003742", "parentIds": ["MONDO_0003354", "EFO_0002087"], "name": "heart fibrosarcoma"} +{"id": "MONDO_0003743", "parentIds": ["EFO_1001339", "MONDO_0005094"], "name": "heart malignant hemangiopericytoma"} {"id": "MONDO_0003744", "parentIds": ["EFO_1000616", "EFO_1000546", "MONDO_0020663"], "name": "spindle cell intraocular melanoma"} +{"id": "MONDO_0003745", "parentIds": ["MONDO_0003878", "MONDO_0003744"], "name": "choroid spindle cell melanoma"} +{"id": "MONDO_0003746", "parentIds": ["MONDO_0004188", "MONDO_0003912"], "name": "ciliary body spindle cell melanoma"} +{"id": "MONDO_0003750", "parentIds": ["MONDO_0003751", "MONDO_0003000"], "name": "childhood central 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"MONDO_0003764", "parentIds": ["MONDO_0003761", "MONDO_0042494", "MONDO_0003057"], "name": "pediatric leptomeningeal melanoma"} {"id": "MONDO_0003766", "parentIds": ["MONDO_0003081", "MONDO_0002786"], "name": "thalamic cancer"} +{"id": "MONDO_0003769", "parentIds": ["MONDO_0002270", "EFO_0007309"], "name": "herpetic gastritis"} +{"id": "MONDO_0003772", "parentIds": ["MONDO_0002731", "MONDO_0850302", "MONDO_0021322"], "name": "cerebral meningioma"} +{"id": "MONDO_0003776", "parentIds": ["MONDO_0021109", "MONDO_0003777"], "name": "renal pelvis inverted papilloma"} +{"id": "MONDO_0003777", "parentIds": ["MONDO_0004041", "MONDO_0021467", "MONDO_0003717"], "name": "renal pelvis urothelial papilloma"} {"id": "MONDO_0003778", "parentIds": ["MONDO_0009453"], "name": "inborn error of immunity"} {"id": "MONDO_0003780", "parentIds": ["MONDO_0021094"], "name": "T-cell immunodeficiency"} {"id": "MONDO_0003783", "parentIds": ["MONDO_0004805"], "name": "lymphopenia"} +{"id": "MONDO_0003784", "parentIds": ["MONDO_0003212", "MONDO_0004647"], "name": "nasal cavity carcinoma in situ"} +{"id": "MONDO_0003786", "parentIds": ["MONDO_0004479", "MONDO_0003758", "EFO_1000564"], "name": "childhood testicular choriocarcinoma"} +{"id": "MONDO_0003787", "parentIds": ["MONDO_0003758", "MONDO_0004479", "MONDO_0003120"], "name": "childhood testicular mixed germ cell cancer"} +{"id": "MONDO_0003788", "parentIds": ["MONDO_0004479", "EFO_1000565", "MONDO_0003758"], "name": "childhood embryonal testis carcinoma"} {"id": "MONDO_0003789", "parentIds": ["MONDO_0003008", "EFO_0000640"], "name": "hereditary papillary renal cell carcinoma"} +{"id": "MONDO_0003796", "parentIds": ["MONDO_0002168", "MONDO_0024659"], "name": "rectum Kaposi sarcoma"} +{"id": "MONDO_0003801", "parentIds": ["MONDO_0024475", "MONDO_0021238"], "name": "corneal intraepithelial neoplasm"} +{"id": "MONDO_0003802", "parentIds": ["MONDO_0021238", "MONDO_0002236"], "name": "cornea cancer"} {"id": "MONDO_0003805", "parentIds": ["EFO_1000355", "MONDO_0001322"], "name": "malignant pericardial mesothelioma"} +{"id": "MONDO_0003808", "parentIds": ["MONDO_0002621", "MONDO_0002852"], "name": "mediastinal extraskeletal osteosarcoma"} +{"id": "MONDO_0003809", "parentIds": ["MONDO_0021386", "MONDO_0009330"], "name": "malignant mediastinum hemangiopericytoma"} {"id": "MONDO_0003812", "parentIds": ["MONDO_0002480", "MONDO_0018364"], "name": "ovarian endometrial cancer"} +{"id": "MONDO_0003813", "parentIds": ["MONDO_0021096", "MONDO_0002229"], "name": "ovarian papillary tumor"} {"id": "MONDO_0003816", "parentIds": ["EFO_1000999"], "name": "articular cartilage disorder"} +{"id": "MONDO_0003819", "parentIds": ["EFO_0006463", "MONDO_0003760"], "name": "childhood teratoma of the ovary"} +{"id": "MONDO_0003821", "parentIds": ["EFO_0006463"], "name": "ovarian biphasic or triphasic teratoma"} +{"id": "MONDO_0003822", "parentIds": ["MONDO_0003755", "MONDO_0003442"], "name": "non-invasive bladder papillary urothelial neoplasm"} 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"epicardium lipoma"} +{"id": "MONDO_0003841", "parentIds": ["MONDO_0021450", "EFO_0000759"], "name": "heart lipoma"} +{"id": "MONDO_0003842", "parentIds": ["MONDO_0003165", "MONDO_0002505", "MONDO_0003263"], "name": "childhood cerebellar astrocytic neoplasm"} +{"id": "MONDO_0003843", "parentIds": ["MONDO_0021497", "MONDO_0003844"], "name": "cerebral hemisphere lipoma"} +{"id": "MONDO_0003844", "parentIds": ["MONDO_0000628", "EFO_0000759"], "name": "central nervous system lipoma"} +{"id": "MONDO_0003846", "parentIds": ["EFO_0000763", "MONDO_0043424", "MONDO_0001409"], "name": "viral esophagitis"} +{"id": "MONDO_0003853", "parentIds": ["EFO_1000103", "MONDO_0024336"], "name": "Bartholin gland adenocarcinoma"} +{"id": "MONDO_0003856", "parentIds": ["MONDO_0009330"], "name": "adult malignant hemangiopericytoma"} +{"id": "MONDO_0003861", "parentIds": ["MONDO_0024240", "MONDO_0024336"], "name": "vulvar eccrine adenocarcinoma"} {"id": "MONDO_0003865", "parentIds": ["EFO_0000389"], "name": "acral lentiginous melanoma"} +{"id": "MONDO_0003866", "parentIds": ["MONDO_0002621", "MONDO_0002397"], "name": "liver extraskeletal osteosarcoma"} {"id": "MONDO_0003869", "parentIds": ["MONDO_0002914", "EFO_1000142"], "name": "childhood brain stem glioma"} +{"id": "MONDO_0003870", "parentIds": ["MONDO_0002505", "MONDO_0003173", "MONDO_0003869"], "name": "childhood brainstem astrocytoma"} +{"id": "MONDO_0003874", "parentIds": ["MONDO_0002512", "EFO_0002917", "MONDO_0003813"], "name": "ovarian serous surface papillary adenocarcinoma"} +{"id": "MONDO_0003876", "parentIds": ["MONDO_0002466", "MONDO_0021313", "EFO_0009259"], "name": "eyelid carcinoma"} +{"id": "MONDO_0003878", "parentIds": ["EFO_1000616", "EFO_1000866"], "name": "malignant choroid melanoma"} +{"id": "MONDO_0003881", "parentIds": ["MONDO_0024336", "MONDO_0003214"], "name": "vulvar apocrine adenocarcinoma"} +{"id": "MONDO_0003882", "parentIds": ["EFO_0002087", "MONDO_0002217"], "name": "central nervous system fibrosarcoma"} 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"parentIds": ["MONDO_0016974"], "name": "cortical thymoma"} {"id": "MONDO_0003916", "parentIds": ["EFO_0001069"], "name": "overnutrition"} +{"id": "MONDO_0003917", "parentIds": ["MONDO_0001340", "EFO_0000574"], "name": "heart lymphoma"} {"id": "MONDO_0003922", "parentIds": ["MONDO_0000548"], "name": "ovarian clear cell malignant adenofibroma"} -{"id": "MONDO_0003937", "parentIds": ["MONDO_0045002"], "name": "spondylitis"} +{"id": "MONDO_0003923", "parentIds": ["MONDO_0021515", "EFO_1000455"], "name": "ethmoid sinus Schneiderian papilloma"} +{"id": "MONDO_0003925", "parentIds": ["MONDO_0002537", "MONDO_0003923"], "name": "ethmoid sinus inverted papilloma"} +{"id": "MONDO_0003926", "parentIds": ["MONDO_0021065", "MONDO_0004820"], "name": "neurilemmoma of the pleura"} +{"id": "MONDO_0003930", "parentIds": ["EFO_0006544"], "name": "non-invasive bladder urothelial carcinoma"} +{"id": "MONDO_0003931", "parentIds": ["MONDO_0024649", "MONDO_0004071"], "name": "childhood optic tract 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"MONDO_0021497"], "name": "cerebral hemangioma"} +{"id": "MONDO_0003950", "parentIds": ["MONDO_0002482", "EFO_0000305"], "name": "nipple carcinoma"} +{"id": "MONDO_0003951", "parentIds": ["MONDO_0021472", "MONDO_0003110"], "name": "scrotal hemangioma"} +{"id": "MONDO_0003952", "parentIds": ["MONDO_0003405", "MONDO_0016740"], "name": "adult central nervous system choriocarcinoma"} +{"id": "MONDO_0003953", "parentIds": ["MONDO_0016740", "MONDO_0004479", "MONDO_0003750"], "name": "pediatric CNS choriocarcinoma"} +{"id": "MONDO_0003954", "parentIds": ["MONDO_0003143"], "name": "angiokeratoma of Fordyce"} +{"id": "MONDO_0003957", "parentIds": ["MONDO_0003248", "EFO_1000475"], "name": "adult pineoblastoma"} +{"id": "MONDO_0003958", "parentIds": ["MONDO_0003735", "MONDO_0003750"], "name": "childhood central nervous system immature teratoma"} +{"id": "MONDO_0003959", "parentIds": ["MONDO_0002485", "EFO_0000563", "EFO_1000307"], "name": "breast large cell neuroendocrine carcinoma"} +{"id": 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"name": "childhood pilocytic astrocytoma"} {"id": "MONDO_0004001", "parentIds": ["EFO_0004264"], "name": "compartment syndrome"} +{"id": "MONDO_0004004", "parentIds": ["MONDO_0002122", "MONDO_0002316"], "name": "motor nerve neuritis"} {"id": "MONDO_0004007", "parentIds": ["MONDO_0002488"], "name": "breast intraductal proliferative lesion"} +{"id": "MONDO_0004009", "parentIds": ["MONDO_0002837", "EFO_0003017"], "name": "kidney pelvis sarcomatoid transitional cell carcinoma"} +{"id": "MONDO_0004010", "parentIds": ["MONDO_0040678"], "name": "infiltrating renal pelvis/ureter urothelial carcinoma"} +{"id": "MONDO_0004015", "parentIds": ["MONDO_0021232", "MONDO_0002718"], "name": "pineal region teratoma"} {"id": "MONDO_0004021", "parentIds": ["EFO_0007362", "EFO_0000574"], "name": "mediastinal malignant lymphoma"} +{"id": "MONDO_0004024", "parentIds": ["MONDO_0003544", "MONDO_0000640", "MONDO_0002749"], "name": "spinal cord neuroblastoma"} +{"id": "MONDO_0004028", "parentIds": 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"parentIds": ["EFO_1001940", "EFO_1000172"], "name": "cervical basaloid carcinoma"} +{"id": "MONDO_0004089", "parentIds": ["MONDO_0020656", "EFO_1001940"], "name": "basaloid carcinoma of the penis"} +{"id": "MONDO_0004090", "parentIds": ["EFO_1000624", "EFO_1001940"], "name": "vulvar basaloid squamous cell carcinoma"} +{"id": "MONDO_0004091", "parentIds": ["EFO_0000559", "EFO_1001940", "MONDO_0002529"], "name": "skin basaloid carcinoma"} +{"id": "MONDO_0004092", "parentIds": ["EFO_1001940", "EFO_1000579"], "name": "thymic basaloid carcinoma"} {"id": "MONDO_0004093", "parentIds": ["EFO_0005922", "EFO_1001940"], "name": "esophageal basaloid carcinoma"} {"id": "MONDO_0004095", "parentIds": ["EFO_0000574", "MONDO_0004805"], "name": "B-cell neoplasm"} +{"id": "MONDO_0004099", "parentIds": ["MONDO_0002379", "MONDO_0003516"], "name": "adult cystic teratoma"} +{"id": "MONDO_0004104", "parentIds": ["MONDO_0004699", "MONDO_0004107", "EFO_1000956"], "name": "splenic manifestation of hairy cell 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{"id": "MONDO_0004126", "parentIds": ["EFO_1000627"], "name": "thyroiditis"} +{"id": "MONDO_0004130", "parentIds": ["EFO_1000081", "EFO_1001940"], "name": "anus basaloid carcinoma"} +{"id": "MONDO_0004131", "parentIds": ["EFO_1000081", "MONDO_0027026", "MONDO_0043424"], "name": "anal verrucous carcinoma"} +{"id": "MONDO_0004132", "parentIds": ["EFO_1000081", "MONDO_0007108"], "name": "anal canal squamous cell carcinoma"} {"id": "MONDO_0004139", "parentIds": ["MONDO_0002280"], "name": "normocytic anemia"} +{"id": "MONDO_0004148", "parentIds": ["EFO_1000262", "MONDO_0002512", "MONDO_0002518"], "name": "gallbladder papillary neoplasm with an associated invasive carcinoma"} +{"id": "MONDO_0004151", "parentIds": ["MONDO_0003544", "MONDO_0021322"], "name": "spinal meninges cancer"} +{"id": "MONDO_0004153", "parentIds": ["MONDO_0003750", "MONDO_0004479", "MONDO_0018843"], "name": "childhood central nervous system embryonal carcinoma"} +{"id": "MONDO_0004155", "parentIds": ["MONDO_0018843", 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"parentIds": ["EFO_0003100"], "name": "axonal neuropathy"} +{"id": "MONDO_0004185", "parentIds": ["EFO_0002510", "EFO_1000428", "MONDO_0003464"], "name": "ovarian serous cystadenofibroma"} {"id": "MONDO_0004187", "parentIds": ["EFO_1000255", "MONDO_0004830", "EFO_1000541", "MONDO_0019296"], "name": "nodular fasciitis"} +{"id": "MONDO_0004188", "parentIds": ["MONDO_0003744", "MONDO_0004064"], "name": "iris spindle cell melanoma"} +{"id": "MONDO_0004189", "parentIds": ["EFO_0007280", "EFO_0009544"], "name": "esophageal tuberculosis"} {"id": "MONDO_0004192", "parentIds": ["EFO_1000363", "EFO_0003846"], "name": "urethra cancer"} +{"id": "MONDO_0004193", "parentIds": ["MONDO_0004479", "EFO_1000414", "MONDO_0020577", "MONDO_0003760"], "name": "pediatric ovarian dysgerminoma"} +{"id": "MONDO_0004196", "parentIds": ["MONDO_0044937", "EFO_1000520"], "name": "rectal sarcomatoid carcinoma"} +{"id": "MONDO_0004197", "parentIds": ["MONDO_0004192"], "name": "male urethral cancer"} +{"id": 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"MONDO_0004554", "parentIds": ["MONDO_0004555", "MONDO_0002730"], "name": "childhood kidney angiomyolipoma"} +{"id": "MONDO_0004555", "parentIds": ["MONDO_0020581", "MONDO_0002513", "MONDO_0002603"], "name": "kidney angiomyolipoma"} {"id": "MONDO_0004557", "parentIds": ["MONDO_0002678", "MONDO_0002677"], "name": "congenital fibrosarcoma"} +{"id": "MONDO_0004561", "parentIds": ["EFO_0005716", "EFO_1000403"], "name": "retinal melanoma"} {"id": "MONDO_0004565", "parentIds": ["EFO_0009431"], "name": "intestinal obstruction"} {"id": "MONDO_0004566", "parentIds": ["EFO_0009431", "MONDO_0001318"], "name": "postgastrectomy syndrome"} {"id": "MONDO_0004567", "parentIds": ["MONDO_0004565"], "name": "ileus"} {"id": "MONDO_0004569", "parentIds": ["EFO_1000844"], "name": "brachial plexus neuropathy from injury"} {"id": "MONDO_0004571", "parentIds": ["MONDO_0004565"], "name": "intestinal impaction"} -{"id": "MONDO_0004573", "parentIds": ["EFO_1001067"], "name": "ariboflavinosis"} +{"id": "MONDO_0004573", "parentIds": ["EFO_0000508", "EFO_1001067"], "name": "ariboflavinosis"} +{"id": "MONDO_0004577", "parentIds": ["MONDO_0043839", "EFO_0009449"], "name": "corneal ulcer"} {"id": "MONDO_0004579", "parentIds": ["MONDO_0004580"], "name": "retinoschisis"} {"id": "MONDO_0004580", "parentIds": ["EFO_0003839"], "name": "retinal degeneration"} {"id": "MONDO_0004582", "parentIds": ["EFO_1001161", "EFO_0009609"], "name": "rheumatic myocarditis"} +{"id": "MONDO_0004583", "parentIds": ["EFO_1001154"], "name": "transient retinal arterial occlusion"} {"id": "MONDO_0004586", "parentIds": ["EFO_0003818", "EFO_0005809"], "name": "rheumatoid lung disease"} -{"id": "MONDO_0004587", "parentIds": ["MONDO_0004588", "EFO_0000508"], "name": "hereditary night blindness"} +{"id": "MONDO_0004587", "parentIds": ["MONDO_0004588", "MONDO_0100545"], "name": "hereditary night blindness"} {"id": "MONDO_0004588", "parentIds": ["EFO_0003839", "MONDO_0001941"], "name": "night blindness"} {"id": 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"parentIds": ["MONDO_0002866", "MONDO_0043579"], "name": "duodenitis"} +{"id": "MONDO_0004628", "parentIds": ["EFO_0000217", "EFO_0009454", "MONDO_0004627"], "name": "gastroduodenitis"} {"id": "MONDO_0004630", "parentIds": ["EFO_0005407"], "name": "substance-induced psychosis"} +{"id": "MONDO_0004631", "parentIds": ["MONDO_0000649", "EFO_0005570", "EFO_0003871"], "name": "tongue cancer"} {"id": "MONDO_0004634", "parentIds": ["EFO_0004264"], "name": "vein disorder"} +{"id": "MONDO_0004636", "parentIds": ["MONDO_0000371", "MONDO_0021333"], "name": "lip carcinoma in situ"} {"id": "MONDO_0004640", "parentIds": ["EFO_0000217"], "name": "alcoholic gastritis"} {"id": "MONDO_0004641", "parentIds": ["EFO_0009259", "MONDO_0004647"], "name": "skin carcinoma in situ"} {"id": "MONDO_0004643", "parentIds": ["EFO_0002428", "EFO_0000565"], "name": "myeloid leukemia"} {"id": "MONDO_0004647", "parentIds": ["MONDO_0021074", "EFO_0000313", "MONDO_0020665"], "name": "in situ carcinoma"} {"id": "MONDO_0004649", "parentIds": ["EFO_1001272", "MONDO_0024389"], "name": "anaerobic pneumonia"} +{"id": "MONDO_0004650", "parentIds": ["MONDO_0021069", "MONDO_0021053", "MONDO_0002095", "MONDO_0021089", "EFO_0006859", "EFO_0000326"], "name": "malignant carotid body paraganglioma"} {"id": "MONDO_0004651", "parentIds": ["MONDO_0100329"], "name": "smallpox"} +{"id": "MONDO_0004653", "parentIds": ["MONDO_0004643", "MONDO_0020077", "EFO_1000388"], "name": "atypical chronic myeloid leukemia, BCR-ABL1 negative"} {"id": "MONDO_0004657", "parentIds": ["MONDO_0004674"], "name": "disseminated chorioretinitis"} {"id": "MONDO_0004658", "parentIds": ["MONDO_0004647", "EFO_0000305"], "name": "breast carcinoma in situ"} +{"id": "MONDO_0004659", "parentIds": ["MONDO_0004647", "MONDO_0002466"], "name": "eye carcinoma in situ"} +{"id": "MONDO_0004660", "parentIds": ["MONDO_0004647", "EFO_0001071"], "name": "lung carcinoma in situ"} +{"id": "MONDO_0004661", "parentIds": ["MONDO_0004693", "EFO_1000600"], "name": "trachea carcinoma in situ"} {"id": "MONDO_0004663", "parentIds": ["EFO_1001950", "MONDO_0004698"], "name": "colon carcinoma in situ"} -{"id": "MONDO_0004669", "parentIds": ["EFO_0005570", "EFO_1000384"], "name": "salivary gland cancer"} -{"id": "MONDO_0004670", "parentIds": ["EFO_0005755", "EFO_0005809"], "name": "lupus erythematosus"} +{"id": "MONDO_0004667", "parentIds": ["MONDO_0044743", "EFO_1001430"], "name": "sublingual gland cancer"} +{"id": "MONDO_0004669", "parentIds": ["EFO_0005570", "EFO_1000384", "EFO_0006859"], "name": "salivary gland cancer"} +{"id": "MONDO_0004670", "parentIds": ["EFO_0005755", "MONDO_0000589", "EFO_0005809"], "name": "lupus erythematosus"} {"id": "MONDO_0004671", "parentIds": ["MONDO_0018352", "MONDO_0004693"], "name": "penis carcinoma in situ"} {"id": "MONDO_0004674", "parentIds": ["EFO_1001231"], "name": "chorioretinitis"} {"id": "MONDO_0004675", "parentIds": ["MONDO_0009637"], "name": "mitochondrial encephalomyopathy"} {"id": "MONDO_0004678", "parentIds": ["MONDO_0024268", "EFO_0007510"], "name": "dermatophytosis"} +{"id": "MONDO_0004679", "parentIds": ["MONDO_0043243", "MONDO_0001433"], "name": "leukoplakia of vagina"} {"id": "MONDO_0004680", "parentIds": ["MONDO_0000602"], "name": "primary thrombocytopenia"} {"id": "MONDO_0004681", "parentIds": ["MONDO_0000592"], "name": "learning disability"} {"id": "MONDO_0004685", "parentIds": ["MONDO_0000621", "MONDO_0044986", "EFO_1001931"], "name": "Waldeyer's ring cancer"} @@ -2763,51 +4203,80 @@ {"id": "MONDO_0004689", "parentIds": ["MONDO_0019052"], "name": "inborn metal metabolism disorder"} {"id": "MONDO_0004693", "parentIds": ["MONDO_0004647", "EFO_0000707"], "name": "squamous carcinoma in situ"} {"id": "MONDO_0004695", "parentIds": ["MONDO_0004699", "MONDO_0002691"], "name": "liver lymphoma"} +{"id": "MONDO_0004696", "parentIds": ["MONDO_0004647", "MONDO_0002358"], "name": "larynx carcinoma in situ"} {"id": "MONDO_0004697", "parentIds": ["EFO_0009544", 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"MONDO_0004710", "parentIds": ["MONDO_0004647", "EFO_0002919"], "name": "uterus carcinoma in situ"} +{"id": "MONDO_0004712", "parentIds": ["EFO_1002022", "MONDO_0021201"], "name": "herpes simplex dermatitis"} +{"id": "MONDO_0004715", "parentIds": ["MONDO_0004647", "MONDO_0018531"], "name": "liver carcinoma in situ"} +{"id": "MONDO_0004716", "parentIds": ["MONDO_0004647", "EFO_0000178"], "name": "stomach carcinoma in situ"} +{"id": "MONDO_0004723", "parentIds": ["MONDO_0001572", "MONDO_0859689", "MONDO_0024477", "MONDO_0000627"], "name": "liver leiomyoma"} {"id": "MONDO_0004724", "parentIds": ["EFO_1000344", "EFO_1001853"], "name": "submandibular gland cancer"} {"id": "MONDO_0004725", "parentIds": ["MONDO_0004698", "MONDO_0044937"], "name": "rectum carcinoma in situ"} +{"id": "MONDO_0004726", "parentIds": ["MONDO_0024477", "MONDO_0015798"], "name": "liver inflammatory myofibroblastic tumor"} {"id": "MONDO_0004727", "parentIds": ["EFO_0005570"], "name": "vestibule of mouth cancer"} {"id": "MONDO_0004730", "parentIds": ["MONDO_0002182"], "name": "speech disorder"} {"id": "MONDO_0004731", "parentIds": ["EFO_0003877"], "name": "central sleep apnea syndrome"} -{"id": "MONDO_0004736", "parentIds": ["MONDO_0019052"], "name": "inborn disorder of amino acid metabolism"} -{"id": "MONDO_0004737", "parentIds": ["MONDO_0019222", "MONDO_0004736", "MONDO_0037871"], "name": "homocystinuria"} +{"id": "MONDO_0004732", "parentIds": ["MONDO_0004647", "EFO_0002890"], "name": "kidney carcinoma in situ"} +{"id": "MONDO_0004736", "parentIds": ["MONDO_0037871", "MONDO_0019052"], "name": "inborn disorder of amino acid metabolism"} +{"id": "MONDO_0004737", "parentIds": ["MONDO_0019222", "MONDO_0004736"], "name": "homocystinuria"} {"id": "MONDO_0004739", "parentIds": ["MONDO_0004736", "MONDO_0019189"], "name": "urea cycle disorder"} {"id": "MONDO_0004741", "parentIds": ["MONDO_0017307"], "name": "tyrosinemia"} +{"id": "MONDO_0004743", "parentIds": ["MONDO_0004737"], "name": "hyperhomocysteinemia"} {"id": "MONDO_0004746", "parentIds": ["EFO_0004145", "EFO_0009546"], "name": "myopathy of extraocular muscle"} {"id": "MONDO_0004748", "parentIds": ["EFO_1001047"], "name": "lip disorder"} +{"id": "MONDO_0004749", "parentIds": ["MONDO_0021380", "MONDO_0001340"], "name": "myocardium cancer"} {"id": "MONDO_0004750", "parentIds": ["MONDO_0002182"], "name": "language disorder"} {"id": "MONDO_0004751", "parentIds": ["EFO_0009546"], "name": "disease of orbital part of eye adnexa"} {"id": "MONDO_0004756", "parentIds": ["MONDO_0002232", "EFO_0005950", "EFO_0003853"], "name": "nasal cavity neoplasm"} +{"id": "MONDO_0004757", "parentIds": ["EFO_0007264", "EFO_1000024"], "name": "chronic ethmoidal sinusitis"} +{"id": "MONDO_0004763", "parentIds": ["EFO_0003781"], "name": "carotid artery dissection"} {"id": "MONDO_0004768", "parentIds": ["EFO_0009449", "EFO_0009450"], "name": "keratoconjunctivitis"} +{"id": "MONDO_0004773", "parentIds": ["MONDO_0002970", "EFO_1000997", "EFO_1000811"], "name": "iridocyclitis"} +{"id": "MONDO_0004774", "parentIds": ["MONDO_0004853", "MONDO_0017210"], "name": "gonococcal iridocyclitis"} {"id": "MONDO_0004777", "parentIds": ["MONDO_0002647"], "name": "acute laryngitis"} {"id": "MONDO_0004782", "parentIds": ["EFO_0003086"], "name": "diabetes insipidus"} {"id": "MONDO_0004784", "parentIds": ["MONDO_0000771", "MONDO_0004979"], "name": "allergic asthma"} +{"id": "MONDO_0004786", "parentIds": ["MONDO_0004789"], "name": "chronic cholangitis"} +{"id": "MONDO_0004788", "parentIds": ["MONDO_0000644", "EFO_1001970"], "name": "cervix squamous papilloma"} {"id": "MONDO_0004789", "parentIds": ["EFO_1000400"], "name": "cholangitis"} {"id": "MONDO_0004790", "parentIds": ["EFO_0001421"], "name": "fatty liver disease"} {"id": "MONDO_0004800", "parentIds": ["MONDO_0004804"], "name": "chronic dacryoadenitis"} {"id": "MONDO_0004804", "parentIds": ["MONDO_0024625"], "name": "dacryoadenitis"} {"id": "MONDO_0004805", "parentIds": ["EFO_0005803", "EFO_0000540"], "name": "leukocyte disorder"} +{"id": "MONDO_0004806", "parentIds": ["EFO_0007257"], "name": "chronic eosinophilic pneumonia"} +{"id": "MONDO_0004810", "parentIds": ["EFO_0007264"], "name": "acute ethmoiditis"} {"id": "MONDO_0004812", "parentIds": ["MONDO_0004804"], "name": "acute dacryoadenitis"} +{"id": "MONDO_0004816", "parentIds": ["MONDO_0004111", "EFO_0000200"], "name": "refractory plasma cell neoplasm"} {"id": "MONDO_0004820", "parentIds": ["EFO_0000693"], "name": "peripheral nerve schwannoma"} {"id": "MONDO_0004821", "parentIds": ["MONDO_0004867", "MONDO_0020592"], "name": "nasopharyngeal disorder"} {"id": "MONDO_0004822", "parentIds": ["EFO_1002018", "EFO_0000508", "EFO_0000341"], "name": "bronchiectasis"} +{"id": "MONDO_0004826", "parentIds": ["EFO_0009689", "MONDO_0004828"], "name": "urethral calculus"} +{"id": "MONDO_0004827", "parentIds": ["EFO_1001970", "MONDO_0021459"], "name": "esophagus squamous cell papilloma"} {"id": "MONDO_0004828", "parentIds": ["MONDO_0024647"], "name": "lower urinary tract calculus"} -{"id": "MONDO_0004830", "parentIds": ["EFO_0009676", "EFO_1001986"], "name": "fasciitis"} +{"id": "MONDO_0004830", "parentIds": ["EFO_0005755", "EFO_1001986"], "name": "fasciitis"} +{"id": "MONDO_0004832", "parentIds": ["MONDO_0001572", "MONDO_0021459"], "name": "esophagus leiomyoma"} {"id": "MONDO_0004843", "parentIds": ["EFO_1001990"], "name": "pathologic nystagmus"} +{"id": "MONDO_0004844", "parentIds": ["MONDO_0043243", "MONDO_0044992"], "name": "oral mucosa leukoplakia"} {"id": "MONDO_0004847", "parentIds": ["MONDO_0005129"], "name": "senile cataract"} {"id": "MONDO_0004848", "parentIds": ["EFO_0009688"], "name": "ulcerative stomatitis"} -{"id": "MONDO_0004857", "parentIds": ["EFO_1001434", "EFO_0000783"], "name": "tendinitis"} +{"id": "MONDO_0004852", "parentIds": ["MONDO_0021201", "MONDO_0024295", "MONDO_0004853", "MONDO_0023865"], "name": "gonococcal keratitis"} +{"id": "MONDO_0004853", "parentIds": ["MONDO_0016047", "DOID_7551"], "name": "gonococcal endophthalmia"} +{"id": "MONDO_0004857", "parentIds": ["EFO_1001434", "EFO_0000783", "EFO_0005755"], "name": "tendinitis"} {"id": "MONDO_0004860", "parentIds": ["EFO_0008624"], "name": "vitreous disorder"} {"id": "MONDO_0004863", "parentIds": ["MONDO_0016047"], "name": "purulent endophthalmitis"} {"id": "MONDO_0004867", "parentIds": ["EFO_0000684"], "name": "upper respiratory tract disorder"} {"id": "MONDO_0004869", "parentIds": ["MONDO_0008638"], "name": "pelvic varices"} {"id": "MONDO_0004874", "parentIds": ["EFO_1000999"], "name": "ganglion or cyst of synovium/tendon/bursa"} {"id": "MONDO_0004880", "parentIds": ["EFO_0009431"], "name": "bowel dysfunction"} +{"id": "MONDO_0004882", "parentIds": ["EFO_1000805", "MONDO_0024237", "MONDO_0004885"], "name": "angioid streaks of choroid"} {"id": "MONDO_0004884", "parentIds": ["EFO_0005772", "EFO_0003966"], "name": "eye degenerative disorder"} {"id": "MONDO_0004885", "parentIds": ["MONDO_0004884", "MONDO_0043218", "MONDO_0001898"], "name": "choroidal sclerosis"} {"id": "MONDO_0004891", "parentIds": ["MONDO_0004892"], "name": "hyperopia"} @@ -2815,9 +4284,13 @@ {"id": "MONDO_0004897", "parentIds": ["EFO_1001990"], "name": "hypotropia"} {"id": "MONDO_0004900", "parentIds": ["EFO_0009691"], "name": "peripheral vertigo"} {"id": "MONDO_0004907", "parentIds": ["MONDO_0019278"], "name": "alopecia"} +{"id": "MONDO_0004910", "parentIds": ["EFO_0009557"], "name": "mitral valve prolapse"} {"id": "MONDO_0004917", "parentIds": ["EFO_0007315", "MONDO_0024481", "EFO_1000763"], "name": "internal hordeolum"} +{"id": "MONDO_0004923", "parentIds": ["EFO_0009455"], "name": "chronic inflammation of lacrimal passage"} +{"id": "MONDO_0004924", "parentIds": ["MONDO_0004923", "MONDO_0043885", "EFO_0007128"], "name": "chronic canaliculitis"} {"id": "MONDO_0004928", "parentIds": ["EFO_0007352"], "name": "lymph node disorder"} -{"id": "MONDO_0004933", "parentIds": ["EFO_0005207", "EFO_0005938", "MONDO_0019820"], "name": "hypoplastic left heart syndrome"} +{"id": "MONDO_0004933", "parentIds": ["EFO_0005207", "MONDO_0100547", "EFO_0005938", "MONDO_0019820"], "name": "hypoplastic left heart syndrome"} +{"id": "MONDO_0004934", "parentIds": ["EFO_0004260", "EFO_1001986"], "name": "periostitis"} {"id": "MONDO_0004938", "parentIds": ["MONDO_0002494"], "name": "substance dependence"} {"id": "MONDO_0004943", "parentIds": ["EFO_0000691", "EFO_0007408"], "name": "orbit sarcoma"} {"id": "MONDO_0004944", "parentIds": ["MONDO_0004497"], "name": "neurosyphilis"} @@ -2834,153 +4307,172 @@ {"id": "MONDO_0005094", "parentIds": ["EFO_1000289"], "name": "hemangiopericytoma"} {"id": "MONDO_0005098", "parentIds": ["EFO_0003763"], "name": "stroke disorder"} {"id": "MONDO_0005129", "parentIds": ["EFO_0009674", "EFO_0000508"], "name": "cataract"} -{"id": "MONDO_0005147", "parentIds": ["MONDO_0000569", "MONDO_0000588", "EFO_0000400"], "name": "type 1 diabetes mellitus"} +{"id": "MONDO_0005147", "parentIds": ["MONDO_0000588", "EFO_0000400", "MONDO_0000569"], "name": "type 1 diabetes mellitus"} {"id": "MONDO_0005148", "parentIds": ["EFO_0000400"], "name": "type 2 diabetes mellitus"} {"id": "MONDO_0005149", "parentIds": ["EFO_0000537"], "name": "pulmonary hypertension"} {"id": "MONDO_0005178", "parentIds": ["EFO_0005856"], "name": "osteoarthritis"} -{"id": "MONDO_0005180", "parentIds": ["EFO_0000508", "MONDO_0021095"], "name": "Parkinson disease"} +{"id": "MONDO_0005180", "parentIds": ["MONDO_0100545", "MONDO_0021095"], "name": "Parkinson disease"} +{"id": "MONDO_0005184", "parentIds": ["EFO_1000044"], "name": "pancreatic ductal adenocarcinoma"} {"id": "MONDO_0005232", "parentIds": ["EFO_0000313"], "name": "large cell carcinoma"} {"id": "MONDO_0005247", "parentIds": ["EFO_0003103", "EFO_0000771"], "name": "bacterial urinary tract infection"} {"id": "MONDO_0005271", "parentIds": ["EFO_1002003"], "name": "allergic disease"} {"id": "MONDO_0005277", "parentIds": ["MONDO_0017181", "EFO_0005774", "MONDO_0043218"], "name": "migraine disorder"} {"id": "MONDO_0005299", "parentIds": ["MONDO_0005053", "EFO_0003763"], "name": "brain ischemia"} -{"id": "MONDO_0005301", "parentIds": ["MONDO_0002562", "EFO_1000870", "EFO_0005774", "EFO_0020092"], "name": "multiple sclerosis"} +{"id": "MONDO_0005301", "parentIds": ["EFO_1000870", "MONDO_0020800", "EFO_0005774"], "name": "multiple sclerosis"} {"id": "MONDO_0005321", "parentIds": ["MONDO_0000766", "MONDO_0020214", "EFO_0000508"], "name": "Fuchs' endothelial dystrophy"} {"id": "MONDO_0005341", "parentIds": ["EFO_0004193", "MONDO_0002529"], "name": "skin basal cell carcinoma"} {"id": "MONDO_0005351", "parentIds": ["EFO_0005203"], "name": "anorexia nervosa"} {"id": "MONDO_0005363", "parentIds": ["EFO_0004236", "MONDO_0100191"], "name": "inherited focal segmental glomerulosclerosis"} {"id": "MONDO_0005374", "parentIds": ["MONDO_0002334", "MONDO_0003225"], "name": "bone marrow neoplasm"} {"id": "MONDO_0005405", "parentIds": ["MONDO_0004979"], "name": "childhood onset asthma"} -{"id": "MONDO_0005411", "parentIds": ["MONDO_0002516", "EFO_0004606"], "name": "gallbladder cancer"} +{"id": "MONDO_0005411", "parentIds": ["EFO_0004606", "MONDO_0003060"], "name": "gallbladder cancer"} {"id": "MONDO_0005475", "parentIds": ["MONDO_0005277"], "name": "migraine with aura"} {"id": "MONDO_0005499", "parentIds": ["MONDO_0001657", "MONDO_0100342"], "name": "brain glioma"} -{"id": "MONDO_0005508", "parentIds": ["MONDO_0018292", "MONDO_0002181", "EFO_0003820", "MONDO_0023603", "MONDO_0015356", "MONDO_0017742"], "name": "hereditary multiple osteochondromas"} -{"id": "MONDO_0005514", "parentIds": ["MONDO_0016764", "MONDO_0000062"], "name": "nanophthalmia"} +{"id": "MONDO_0005508", "parentIds": ["MONDO_0002181", "EFO_0003820", "MONDO_0023603", "MONDO_0015356"], "name": "hereditary multiple osteochondromas"} +{"id": "MONDO_0005514", "parentIds": ["EFO_0000508", "MONDO_0016764", "EFO_0005569"], "name": "nanophthalmia"} {"id": "MONDO_0005575", "parentIds": ["EFO_0007330", "EFO_0004142"], "name": "colorectal cancer"} {"id": "MONDO_0005784", "parentIds": ["EFO_0003103", "EFO_0003086", "EFO_0007295"], "name": "hantavirus hemorrhagic fever with renal syndrome"} -{"id": "MONDO_0005835", "parentIds": ["MONDO_0000426", "MONDO_0018630"], "name": "Lynch syndrome"} +{"id": "MONDO_0005835", "parentIds": ["MONDO_0018630", "MONDO_0000426"], "name": "Lynch syndrome"} {"id": "MONDO_0006037", "parentIds": ["EFO_1000017"], "name": "hydrolethalus syndrome"} {"id": "MONDO_0006058", "parentIds": ["EFO_0005784", "EFO_1000356"], "name": "Wilms tumor"} +{"id": "MONDO_0006267", "parentIds": ["MONDO_0002404", "EFO_1000151"], "name": "liver cavernous hemangioma"} {"id": "MONDO_0006412", "parentIds": ["MONDO_0015531"], "name": "sinus histiocytosis with massive lymphadenopathy"} {"id": "MONDO_0006507", "parentIds": ["MONDO_0004689", "MONDO_0001436", "MONDO_0017763"], "name": "hereditary hemochromatosis"} {"id": "MONDO_0006596", "parentIds": ["EFO_1000668", "EFO_1000752"], "name": "photoallergic dermatitis"} {"id": "MONDO_0006715", "parentIds": ["EFO_0001645"], "name": "coronary stenosis"} {"id": "MONDO_0006751", "parentIds": ["MONDO_0021679"], "name": "Erysipelothrix infectious disease"} -{"id": "MONDO_0007029", "parentIds": ["MONDO_0000426", "MONDO_0015334", "MONDO_0015161"], "name": "branchio-oto-renal syndrome"} +{"id": "MONDO_0007029", "parentIds": ["MONDO_0000426", "MONDO_0015161"], "name": "branchio-oto-renal syndrome"} {"id": "MONDO_0007031", "parentIds": ["EFO_0000508", "EFO_0004214"], "name": "familial abdominal aortic aneurysm"} -{"id": "MONDO_0007032", "parentIds": ["MONDO_0015620", "MONDO_0018559"], "name": "prune belly syndrome"} -{"id": "MONDO_0007034", "parentIds": ["MONDO_0019054", "MONDO_0018454"], "name": "Adams-Oliver syndrome"} +{"id": "MONDO_0007032", "parentIds": ["MONDO_0100191", "MONDO_0018559"], "name": "prune belly syndrome"} +{"id": "MONDO_0007033", "parentIds": ["MONDO_0020594", "EFO_0009489"], "name": "abducens nerve palsy"} +{"id": "MONDO_0007034", "parentIds": ["MONDO_0018234", "MONDO_0019054", "EFO_0000508"], "name": "Adams-Oliver syndrome"} {"id": "MONDO_0007037", "parentIds": ["MONDO_0019685", "EFO_0005571"], "name": "Achondroplasia"} {"id": "MONDO_0007039", "parentIds": ["EFO_0008514"], "name": "neurofibromatosis type 2"} {"id": "MONDO_0007040", "parentIds": ["MONDO_0000078"], "name": "Sakati-Nyhan syndrome"} -{"id": "MONDO_0007041", "parentIds": ["MONDO_0018187", "MONDO_0019796", "MONDO_0018751"], "name": "Apert syndrome"} -{"id": "MONDO_0007042", "parentIds": ["MONDO_0019796", "MONDO_0020158"], "name": "Saethre-Chotzen syndrome"} +{"id": "MONDO_0007041", "parentIds": ["MONDO_0019796"], "name": "Apert syndrome"} +{"id": "MONDO_0007042", "parentIds": ["MONDO_0019796"], "name": "Saethre-Chotzen syndrome"} {"id": "MONDO_0007043", "parentIds": ["MONDO_0000078"], "name": "Pfeiffer syndrome"} -{"id": "MONDO_0007045", "parentIds": ["MONDO_0018237", "MONDO_0015159", "MONDO_0015334"], "name": "acrofacial dysostosis, Catania type"} +{"id": "MONDO_0007044", "parentIds": ["MONDO_0019797"], "name": "Acrodysostosis 1 with or without hormone resistance"} +{"id": "MONDO_0007045", "parentIds": ["MONDO_0018237", "MONDO_0015159"], "name": "acrofacial dysostosis, Catania type"} +{"id": "MONDO_0007049", "parentIds": ["EFO_0000508"], "name": "acroleukopathy, symmetric"} {"id": "MONDO_0007051", "parentIds": ["MONDO_0015160"], "name": "acromegaloid facial appearance syndrome"} {"id": "MONDO_0007055", "parentIds": ["MONDO_0019695"], "name": "Acromicric dysplasia"} {"id": "MONDO_0007056", "parentIds": ["MONDO_0019707"], "name": "acroosteolysis"} {"id": "MONDO_0007057", "parentIds": ["MONDO_0003157", "MONDO_0007056", "EFO_0005755", "MONDO_0000426", "MONDO_0023603"], "name": "Acroosteolysis dominant type"} {"id": "MONDO_0007058", "parentIds": ["MONDO_0800066", "MONDO_0015929"], "name": "Acropectorovertebral dysplasia"} {"id": "MONDO_0007059", "parentIds": ["MONDO_0015161"], "name": "acrorenal syndrome"} -{"id": "MONDO_0007062", "parentIds": ["MONDO_0017448"], "name": "adactylia, unilateral"} +{"id": "MONDO_0007062", "parentIds": ["MONDO_0018234", "MONDO_0019713"], "name": "adactylia, unilateral"} {"id": "MONDO_0007064", "parentIds": ["MONDO_0031520", "MONDO_0019236", "MONDO_0017855"], "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"} {"id": "MONDO_0007066", "parentIds": ["EFO_0000508"], "name": "adenosine triphosphatase deficiency, anemia due to"} {"id": "MONDO_0007068", "parentIds": ["MONDO_0019236", "MONDO_0004736"], "name": "adenylosuccinate lyase deficiency"} -{"id": "MONDO_0007072", "parentIds": ["MONDO_0019054", "MONDO_0000426", "MONDO_0018454", "MONDO_0020197"], "name": "ADULT syndrome"} -{"id": "MONDO_0007073", "parentIds": ["MONDO_0015334", "MONDO_0015160", "MONDO_0017139", "MONDO_0019713"], 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"parentIds": ["MONDO_0019294"], "name": "aplasia cutis congenita"} +{"id": "MONDO_0007145", "parentIds": ["MONDO_0100118", "MONDO_0019294"], "name": "aplasia cutis congenita"} {"id": "MONDO_0007152", "parentIds": ["MONDO_0016342"], "name": "arrhythmogenic right ventricular dysplasia 1"} -{"id": "MONDO_0007154", "parentIds": ["MONDO_0001256", "MONDO_0016229", "MONDO_0000648", "MONDO_0015145", "MONDO_0043218"], "name": "arteriovenous malformations of the brain"} +{"id": "MONDO_0007154", "parentIds": ["MONDO_0001256", "EFO_0000508"], "name": "arteriovenous malformations of the brain"} +{"id": "MONDO_0007156", "parentIds": ["EFO_0000508"], "name": "arthritis, sacroiliac"} {"id": "MONDO_0007158", "parentIds": ["MONDO_0019942"], "name": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome"} {"id": "MONDO_0007159", "parentIds": ["MONDO_0019942"], "name": "arthrogryposis-like hand anomaly-sensorineural deafness syndrome"} {"id": "MONDO_0007160", "parentIds": 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"parentIds": ["MONDO_0019054", "MONDO_0015160", "EFO_0000508", "EFO_0002461"], "name": "Brachymorphism-onychodysplasia-dysphalangism syndrome"} +{"id": "MONDO_0007231", "parentIds": ["MONDO_0019054", "MONDO_0018234", "MONDO_0015770", "MONDO_0015161"], "name": "brachytelephalangy-dysmorphism-Kallmann syndrome"} {"id": "MONDO_0007232", "parentIds": ["MONDO_0018240", "MONDO_0015262", "MONDO_0000426"], "name": "autosomal dominant brachyolmia"} {"id": "MONDO_0007235", "parentIds": ["MONDO_0000426", "MONDO_0015161"], "name": "branchiooculofacial syndrome"} {"id": "MONDO_0007239", "parentIds": ["MONDO_0017266"], "name": "epidermolytic ichthyosis"} +{"id": "MONDO_0007240", "parentIds": ["MONDO_0019490", "MONDO_0007263", "EFO_0005137"], "name": "progressive familial heart block, type 1A"} {"id": "MONDO_0007244", "parentIds": ["MONDO_0002614", "MONDO_0019702", "MONDO_0002185"], "name": "Caffey disease"} {"id": "MONDO_0007245", "parentIds": ["MONDO_0019289"], "name": "cafe au lait spots, 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"MONDO_0007270", "parentIds": ["MONDO_0016340"], "name": "cardiomyopathy, familial restrictive, 1"} +{"id": "MONDO_0007271", "parentIds": ["MONDO_0021154"], "name": "familial cutaneous collagenoma"} +{"id": "MONDO_0007272", "parentIds": ["MONDO_0017758"], "name": "hereditary hypercarotenemia and vitamin A deficiency"} +{"id": "MONDO_0007276", "parentIds": ["EFO_0000508"], "name": "cat-eye syndrome"} {"id": "MONDO_0007277", "parentIds": ["MONDO_0015161", "MONDO_0000426"], "name": "cataract-aberrant oral frenula-growth delay syndrome"} {"id": "MONDO_0007280", "parentIds": ["MONDO_0011060"], "name": "cataract 8 multiple types"} {"id": "MONDO_0007289", "parentIds": ["MONDO_0011060"], "name": "cataract 13 with adult I phenotype"} @@ -2990,117 +4482,128 @@ {"id": "MONDO_0007296", "parentIds": ["MONDO_0019793"], "name": "spinocerebellar ataxia type 31"} {"id": "MONDO_0007297", "parentIds": ["EFO_0006790", "MONDO_0018591"], "name": "ADan amyloidosis"} {"id": "MONDO_0007298", "parentIds": 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"MONDO_0007336", "parentIds": ["MONDO_0016064"], "name": "isolated cleft palate"} {"id": "MONDO_0007337", "parentIds": ["MONDO_0015161"], "name": "cleft palate-lateral synechia syndrome"} {"id": "MONDO_0007339", "parentIds": ["MONDO_0019287", "MONDO_0020161", "MONDO_0000426", "MONDO_0015161"], "name": "blepharocheilodontic syndrome"} -{"id": "MONDO_0007340", "parentIds": ["MONDO_0020018", "MONDO_0018230", "EFO_0005571"], "name": "cleidocranial dysplasia 1"} -{"id": "MONDO_0007341", "parentIds": ["MONDO_0019697"], "name": "cleidorhizomelic syndrome"} +{"id": "MONDO_0007340", "parentIds": ["MONDO_0018230", "EFO_0005571"], "name": "cleidocranial dysplasia 1"} +{"id": "MONDO_0007341", "parentIds": ["MONDO_0018230"], "name": "cleidorhizomelic syndrome"} {"id": "MONDO_0007342", "parentIds": ["MONDO_0016046", "MONDO_0019713"], "name": "clubfoot"} -{"id": "MONDO_0007343", "parentIds": ["MONDO_0019284", "MONDO_0017429"], "name": "isolated congenital digital clubbing"} +{"id": "MONDO_0007343", "parentIds": ["MONDO_0019284"], "name": "isolated congenital digital clubbing"} {"id": "MONDO_0007346", "parentIds": ["MONDO_0000426"], "name": "cochleosaccular degeneration-cataract syndrome"} {"id": "MONDO_0007349", "parentIds": ["MONDO_0018768"], "name": "familial cold autoinflammatory syndrome 1"} {"id": "MONDO_0007350", "parentIds": ["MONDO_0001476"], "name": "coloboma, ocular, autosomal dominant"} {"id": "MONDO_0007351", "parentIds": ["MONDO_0020242", "MONDO_0001476"], "name": "coloboma of macula"} -{"id": "MONDO_0007352", "parentIds": ["MONDO_0000426", "MONDO_0020145"], "name": "renal coloboma syndrome"} +{"id": "MONDO_0007352", "parentIds": ["MONDO_0000426"], "name": "renal coloboma syndrome"} {"id": "MONDO_0007353", "parentIds": ["MONDO_0020242"], "name": "coloboma of macula-brachydactyly type B syndrome"} -{"id": "MONDO_0007354", "parentIds": ["MONDO_0001834", "MONDO_0001476", "EFO_0000508"], "name": "coloboma of optic nerve"} -{"id": "MONDO_0007355", "parentIds": 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["MONDO_0002320", "MONDO_0020127"], "name": "congenital trigeminal anesthesia"} {"id": "MONDO_0007392", "parentIds": ["EFO_0004260"], "name": "coxoauricular syndrome"} -{"id": "MONDO_0007395", "parentIds": ["MONDO_0015161"], "name": "craniofacial-deafness-hand syndrome"} +{"id": "MONDO_0007395", "parentIds": ["EFO_0000508", "MONDO_0015161"], "name": "craniofacial-deafness-hand syndrome"} {"id": "MONDO_0007396", "parentIds": ["MONDO_0002933"], "name": "dysostosis, Stanescu type"} -{"id": "MONDO_0007399", "parentIds": ["MONDO_0018114", "MONDO_0018112", "MONDO_0018971", "MONDO_0018113"], "name": "TWIST1-related craniosynostosis"} +{"id": "MONDO_0007399", "parentIds": ["MONDO_0018971"], "name": "TWIST1-related craniosynostosis"} {"id": "MONDO_0007400", "parentIds": ["MONDO_0019796"], "name": "Jackson-Weiss syndrome"} -{"id": "MONDO_0007401", "parentIds": ["MONDO_0020022", "MONDO_0015704", "EFO_0005774"], "name": "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"} -{"id": "MONDO_0007403", "parentIds": ["EFO_0004280", "MONDO_0017234", "EFO_0004226"], "name": "inherited Creutzfeldt-Jakob disease"} -{"id": "MONDO_0007404", "parentIds": ["MONDO_0016887", "MONDO_0957003", "MONDO_0020165"], "name": "Cri-du-chat syndrome"} +{"id": "MONDO_0007401", "parentIds": ["MONDO_0020022", "MONDO_0100545", "MONDO_0015704", "EFO_0005774"], "name": "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"} +{"id": "MONDO_0007403", "parentIds": ["EFO_0004280", "MONDO_0024237", "EFO_0004226"], "name": "inherited Creutzfeldt-Jakob disease"} +{"id": "MONDO_0007404", "parentIds": ["MONDO_0016887"], "name": "Cri-du-chat syndrome"} {"id": "MONDO_0007405", "parentIds": ["MONDO_0015338"], "name": "Crouzon syndrome"} {"id": "MONDO_0007409", "parentIds": ["MONDO_0015161"], "name": "cryptomicrotia-brachydactyly-excess fingertip arch syndrome"} -{"id": "MONDO_0007410", "parentIds": ["MONDO_0015217", "MONDO_0020153"], "name": "isolated cryptophthalmia"} -{"id": "MONDO_0007412", "parentIds": ["MONDO_0015161", "MONDO_0000426", "MONDO_0015338"], "name": "Beare-Stevenson cutis gyrata syndrome"} +{"id": "MONDO_0007410", "parentIds": ["MONDO_0020153"], "name": "isolated cryptophthalmia"} +{"id": "MONDO_0007411", "parentIds": ["MONDO_0019571"], "name": "cutis laxa, autosomal dominant 1"} +{"id": "MONDO_0007412", "parentIds": ["MONDO_0015338", "MONDO_0000426", "MONDO_0015161"], "name": "Beare-Stevenson cutis gyrata syndrome"} {"id": "MONDO_0007413", "parentIds": ["MONDO_0015161", "MONDO_0020120"], "name": "Cyprus facial-neuromusculoskeletal syndrome"} -{"id": "MONDO_0007414", "parentIds": ["MONDO_0023603", "MONDO_0800089", "EFO_0005755", "MONDO_0016524", "MONDO_0000631", "MONDO_0002013", "MONDO_0003157", "MONDO_0024499"], "name": "Gorham-Stout disease"} +{"id": "MONDO_0007414", "parentIds": ["EFO_0005755", "MONDO_0000631", "MONDO_0002013", "MONDO_0003157", "MONDO_0024499"], "name": "Gorham-Stout disease"} {"id": "MONDO_0007415", "parentIds": ["MONDO_0020811"], "name": "mitochondrial complex III deficiency nuclear type 1"} -{"id": "MONDO_0007417", "parentIds": ["MONDO_0019268"], "name": "Darier disease"} -{"id": "MONDO_0007420", "parentIds": ["MONDO_0000426", "MONDO_0017922"], "name": "autosomal dominant deafness - onychodystrophy syndrome"} +{"id": "MONDO_0007417", "parentIds": ["MONDO_0100118", "MONDO_0019268"], "name": "Darier disease"} +{"id": "MONDO_0007420", "parentIds": ["EFO_0000508", "EFO_0010285"], "name": "autosomal dominant deafness - onychodystrophy syndrome"} {"id": "MONDO_0007421", "parentIds": ["EFO_0000508"], "name": "deafness-ear malformation-facial palsy syndrome"} -{"id": "MONDO_0007422", "parentIds": ["MONDO_0017670"], "name": "keratoderma hereditarium mutilans"} +{"id": "MONDO_0007422", "parentIds": ["EFO_0000508", "EFO_0010285"], "name": "keratoderma hereditarium mutilans"} {"id": "MONDO_0007424", "parentIds": ["MONDO_0019587"], "name": "autosomal dominant nonsyndromic hearing loss 1"} {"id": "MONDO_0007428", "parentIds": ["MONDO_0015161"], "name": "deafness-craniofacial syndrome"} -{"id": "MONDO_0007432", "parentIds": ["MONDO_0020144", "MONDO_0015547"], "name": "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy"} +{"id": "MONDO_0007432", "parentIds": ["EFO_0004264", "EFO_0000508"], "name": "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy"} {"id": "MONDO_0007434", "parentIds": ["EFO_0000508"], "name": "primary failure of tooth eruption"} -{"id": "MONDO_0007435", "parentIds": ["MONDO_0019794", "MONDO_0015548"], "name": "dentatorubral-pallidoluysian atrophy"} -{"id": "MONDO_0007436", "parentIds": ["EFO_0000508", "MONDO_0015613"], "name": "dentin dysplasia type I"} +{"id": "MONDO_0007435", "parentIds": ["MONDO_0015548", "MONDO_0019794"], "name": "dentatorubral-pallidoluysian atrophy"} +{"id": "MONDO_0007436", "parentIds": ["MONDO_0015613", "EFO_0000508"], "name": "dentin dysplasia type I"} {"id": "MONDO_0007437", "parentIds": ["EFO_0000508", "MONDO_0015613"], "name": "dentin dysplasia type II"} {"id": "MONDO_0007438", "parentIds": ["EFO_0000508"], "name": "dentin dysplasia-sclerotic bones syndrome"} {"id": "MONDO_0007441", "parentIds": ["MONDO_0018849", "EFO_0000508"], "name": "dentinogenesis imperfecta type 2"} {"id": "MONDO_0007442", "parentIds": ["MONDO_0018849", "EFO_0000508"], "name": "dentinogenesis imperfecta type 3"} {"id": "MONDO_0007443", "parentIds": ["MONDO_0018923"], "name": "congenital unilateral hypoplasia of depressor anguli oris"} {"id": "MONDO_0007445", "parentIds": ["MONDO_0019287", "MONDO_0017666", "MONDO_0019289"], "name": "dermatopathia pigmentosa reticularis"} +{"id": "MONDO_0007447", "parentIds": ["EFO_1000775", "MONDO_0000426", "MONDO_0100118"], "name": "autosomal dominant vibratory urticaria"} {"id": "MONDO_0007449", "parentIds": ["MONDO_0019287"], "name": "dermo-odonto dysplasia"} -{"id": "MONDO_0007450", "parentIds": ["MONDO_0100191", "MONDO_0000426", "EFO_0009607", "MONDO_0015127", "MONDO_0100070", "MONDO_0004782"], "name": "neurohypophyseal diabetes insipidus"} +{"id": "MONDO_0007450", "parentIds": ["MONDO_0100191", "MONDO_0000426", "EFO_0009607", "MONDO_0015127", "MONDO_0100070", "MONDO_0100545", "MONDO_0004782"], "name": "neurohypophyseal diabetes insipidus"} {"id": "MONDO_0007451", "parentIds": ["MONDO_0016383"], "name": "diabetes insipidus, nephrogenic, autosomal"} +{"id": "MONDO_0007453", "parentIds": ["MONDO_0018911"], "name": "maturity-onset diabetes of the young type 2"} {"id": "MONDO_0007461", "parentIds": ["MONDO_0015161"], "name": "short stature-valvular heart disease-characteristic facies syndrome"} {"id": "MONDO_0007470", "parentIds": ["MONDO_0800064"], "name": "calvarial doughnut lesions-bone fragility syndrome"} {"id": "MONDO_0007471", "parentIds": ["EFO_1001155", "MONDO_0016420"], "name": "Doyne honeycomb retinal dystrophy"} -{"id": "MONDO_0007473", "parentIds": ["MONDO_0015083", "MONDO_0020132", "MONDO_0957003"], "name": "Duane retraction syndrome"} +{"id": "MONDO_0007473", "parentIds": ["MONDO_0015083", "MONDO_0100545"], "name": "Duane retraction syndrome"} {"id": "MONDO_0007476", "parentIds": ["EFO_0004198", "EFO_1000556"], "name": "familial Dupuytren contracture"} -{"id": "MONDO_0007477", "parentIds": ["MONDO_0019699", "EFO_1000017", "MONDO_0015161"], "name": "3-M syndrome"} -{"id": "MONDO_0007478", "parentIds": ["MONDO_0016516", "MONDO_0000426", "MONDO_0800063"], "name": "autosomal dominant Kenny-Caffey syndrome"} -{"id": "MONDO_0007481", "parentIds": ["MONDO_0019697", "EFO_0005571"], "name": "Leri-Weill dyschondrosteosis"} -{"id": "MONDO_0007482", "parentIds": ["MONDO_0019697"], "name": "dyschondrosteosis-nephritis syndrome"} -{"id": "MONDO_0007483", "parentIds": ["MONDO_0000118", "MONDO_0019289"], "name": "dyschromatosis symmetrica hereditaria"} -{"id": "MONDO_0007486", "parentIds": ["MONDO_0020212", "MONDO_0020215"], "name": "hereditary benign intraepithelial dyskeratosis"} -{"id": "MONDO_0007489", "parentIds": ["MONDO_0800089"], "name": "dysplasia epiphysealis hemimelica"} +{"id": "MONDO_0007477", "parentIds": ["EFO_1000017", "MONDO_0015161"], "name": "3-M syndrome"} +{"id": "MONDO_0007478", "parentIds": ["MONDO_0016516", "MONDO_0000426"], "name": "autosomal dominant Kenny-Caffey syndrome"} +{"id": "MONDO_0007481", "parentIds": ["EFO_0005571", "MONDO_0018230"], "name": "Leri-Weill dyschondrosteosis"} +{"id": "MONDO_0007482", "parentIds": ["MONDO_0018230"], "name": "dyschondrosteosis-nephritis syndrome"} +{"id": "MONDO_0007483", "parentIds": ["MONDO_0000118", "MONDO_0700261", "MONDO_0019289"], "name": "dyschromatosis symmetrica hereditaria"} +{"id": "MONDO_0007486", "parentIds": ["MONDO_0020212"], "name": "hereditary benign intraepithelial dyskeratosis"} +{"id": "MONDO_0007489", "parentIds": ["MONDO_0018230"], "name": "dysplasia epiphysealis hemimelica"} {"id": "MONDO_0007490", "parentIds": ["MONDO_0018230"], "name": "carpotarsal osteochondromatosis"} {"id": "MONDO_0007492", "parentIds": ["MONDO_0100016"], "name": "early-onset generalized limb-onset dystonia"} {"id": "MONDO_0007493", "parentIds": ["MONDO_0015990"], "name": "torsion dystonia 4"} -{"id": "MONDO_0007495", "parentIds": ["MONDO_0016812", "MONDO_0100184", "MONDO_0017756"], "name": "dystonia 5"} -{"id": "MONDO_0007496", "parentIds": ["MONDO_0018329", "MONDO_0021095", "MONDO_0700002"], "name": "dystonia 12"} +{"id": "MONDO_0007495", "parentIds": ["MONDO_0044807", "MONDO_0016812", "MONDO_0100184"], "name": "dystonia 5"} +{"id": "MONDO_0007496", "parentIds": ["MONDO_0021095", "MONDO_0020065", "MONDO_0700002"], "name": "dystonia 12"} {"id": "MONDO_0007500", "parentIds": ["EFO_0000508"], "name": "ear malformation"} {"id": "MONDO_0007504", "parentIds": ["EFO_0000508"], "name": "thickened earlobes-conductive deafness syndrome"} -{"id": "MONDO_0007507", "parentIds": ["MONDO_0019268"], "name": "absence of fingerprints-congenital milia syndrome"} +{"id": "MONDO_0007507", "parentIds": ["MONDO_0019268", "MONDO_0100118"], "name": "absence of fingerprints-congenital milia syndrome"} {"id": "MONDO_0007509", "parentIds": ["MONDO_0015884"], "name": "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"} {"id": "MONDO_0007510", "parentIds": ["MONDO_0017666", "MONDO_0019287"], "name": "Clouston syndrome"} {"id": "MONDO_0007511", "parentIds": ["MONDO_0019287"], "name": "ectodermal dysplasia, trichoodontoonychial type"} +{"id": "MONDO_0007514", "parentIds": ["MONDO_0015998", "EFO_0000508"], "name": "ectopia lentis 1, isolated, autosomal dominant"} +{"id": "MONDO_0007516", "parentIds": ["EFO_0000508"], "name": "ectrodactyly and ectodermal dysplasia without cleft lip/palate"} {"id": "MONDO_0007522", "parentIds": ["MONDO_0000426", "MONDO_0020066"], "name": "Ehlers-Danlos syndrome, classic type"} {"id": "MONDO_0007523", "parentIds": ["MONDO_0020066"], "name": "Ehlers-Danlos syndrome, hypermobility type"} -{"id": "MONDO_0007525", "parentIds": ["MONDO_0020066"], "name": "Ehlers-Danlos syndrome, arthrochalasis type"} -{"id": "MONDO_0007526", "parentIds": ["MONDO_0020066", "MONDO_0018292", "MONDO_0017742"], "name": "Ehlers-Danlos syndrome, spondylodysplastic type"} +{"id": "MONDO_0007524", "parentIds": ["MONDO_0000426", "MONDO_0017314"], "name": "autosomal dominant Ehlers-Danlos syndrome, vascular type"} +{"id": "MONDO_0007525", "parentIds": ["MONDO_0020066"], "name": "Ehlers-Danlos syndrome, arthrochalasia type"} +{"id": "MONDO_0007526", "parentIds": ["MONDO_0015327", "MONDO_0020066", "MONDO_0019052"], "name": "Ehlers-Danlos syndrome, spondylodysplastic type"} {"id": "MONDO_0007527", "parentIds": ["MONDO_0020066"], "name": "Ehlers-Danlos syndrome, periodontitis type"} -{"id": "MONDO_0007533", "parentIds": ["MONDO_0017319"], "name": "elliptocytosis 2"} -{"id": "MONDO_0007534", "parentIds": ["MONDO_0017891", "MONDO_0019716", "MONDO_0024573"], "name": "Beckwith-Wiedemann syndrome"} -{"id": "MONDO_0007536", "parentIds": ["EFO_0000464", "MONDO_0015930", "MONDO_0020023"], "name": "congenital lobar emphysema"} -{"id": "MONDO_0007537", "parentIds": ["MONDO_0018075"], "name": "lateral meningocele syndrome"} +{"id": "MONDO_0007533", "parentIds": ["MONDO_0003689", "MONDO_0017319"], "name": "elliptocytosis 2"} +{"id": "MONDO_0007534", "parentIds": ["MONDO_0019716", "MONDO_0024573", "MONDO_0015356"], "name": "Beckwith-Wiedemann syndrome"} +{"id": "MONDO_0007536", "parentIds": ["EFO_0000464"], "name": "congenital lobar emphysema"} +{"id": "MONDO_0007537", "parentIds": ["MONDO_0018075", "MONDO_0100545"], "name": "lateral meningocele syndrome"} {"id": "MONDO_0007538", "parentIds": ["MONDO_0019507"], "name": "amelogenesis imperfecta, type 3A"} -{"id": "MONDO_0007540", "parentIds": ["EFO_0003850", "MONDO_0017169", "MONDO_0000426", "MONDO_0018538", "MONDO_0016365"], "name": "multiple endocrine neoplasia type 1"} -{"id": "MONDO_0007542", "parentIds": ["MONDO_0800084"], "name": "Camurati-Engelmann disease"} +{"id": "MONDO_0007540", "parentIds": ["EFO_0003850", "MONDO_0017169", "MONDO_0000426", "MONDO_0016365"], "name": "multiple endocrine neoplasia type 1"} +{"id": "MONDO_0007542", "parentIds": ["MONDO_0018230"], "name": "Camurati-Engelmann disease"} {"id": "MONDO_0007548", "parentIds": ["EFO_1000692"], "name": "transient bullous dermolysis of the newborn"} {"id": "MONDO_0007549", "parentIds": ["EFO_1000692"], "name": "generalized dominant dystrophic epidermolysis bullosa"} {"id": "MONDO_0007550", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex 1A, generalized severe"} @@ -3109,7 +4612,7 @@ {"id": "MONDO_0007554", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex 1B, generalized intermediate"} {"id": "MONDO_0007555", "parentIds": ["MONDO_0017610"], "name": "pidermolysis bullosa simplex 5A, Ogna type"} {"id": "MONDO_0007556", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex 2F, with mottled pigmentation"} -{"id": "MONDO_0007558", "parentIds": ["MONDO_0020072"], "name": "benign occipital epilepsy"} +{"id": "MONDO_0007558", "parentIds": ["MONDO_0015650"], "name": "benign occipital epilepsy"} {"id": "MONDO_0007561", "parentIds": ["MONDO_0016648"], "name": "multiple epiphyseal dysplasia type 1"} {"id": "MONDO_0007562", "parentIds": ["MONDO_0016648", "MONDO_0022800"], "name": "multiple epiphyseal dysplasia, Beighton type"} {"id": "MONDO_0007565", "parentIds": ["MONDO_0011512"], "name": "familial cylindromatosis"} @@ -3117,235 +4620,262 @@ {"id": "MONDO_0007570", "parentIds": ["EFO_0000701"], "name": "erythema palmare hereditarium"} {"id": "MONDO_0007571", "parentIds": ["MONDO_0016028"], "name": "primary erythermalgia"} {"id": "MONDO_0007572", "parentIds": ["MONDO_0001115"], "name": "primary familial polycythemia due to EPO receptor mutation"} +{"id": "MONDO_0007573", "parentIds": ["MONDO_0015356"], "name": "erythroleukemia, familial, susceptibility to"} {"id": "MONDO_0007574", "parentIds": ["MONDO_0019792", "MONDO_0100118", "MONDO_0019270"], "name": 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"MONDO_0015412", "MONDO_0800085"], "name": "frontorhiny"} +{"id": "MONDO_0007635", "parentIds": ["MONDO_0020040", "MONDO_0000426"], "name": "Frasier syndrome"} +{"id": "MONDO_0007636", "parentIds": ["MONDO_0016643"], "name": "frontorhiny"} {"id": "MONDO_0007639", "parentIds": ["MONDO_0016420", "MONDO_0100444", "MONDO_0100443"], "name": "fundus albipunctatus"} {"id": "MONDO_0007640", "parentIds": ["MONDO_0019118"], "name": "Sorsby fundus dystrophy"} -{"id": "MONDO_0007646", "parentIds": ["OTAR_0000018"], "name": "Gamstorp-Wohlfart syndrome"} -{"id": "MONDO_0007648", "parentIds": ["MONDO_0018502", "EFO_0000402", "MONDO_0015617"], "name": "hereditary diffuse gastric adenocarcinoma"} +{"id": "MONDO_0007642", "parentIds": ["EFO_0009534"], "name": "isolated agenesis of gallbladder"} +{"id": "MONDO_0007644", "parentIds": ["EFO_1001929"], "name": "IgAD1"} +{"id": "MONDO_0007646", "parentIds": ["EFO_0000508"], "name": "Gamstorp-Wohlfart syndrome"} +{"id": "MONDO_0007648", "parentIds": 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"parentIds": ["MONDO_0019520", "MONDO_0019313"], "name": "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)"} +{"id": "MONDO_0007670", "parentIds": ["MONDO_0019175"], "name": "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)"} {"id": "MONDO_0007671", "parentIds": ["EFO_1002049", "MONDO_0100191"], "name": "fibronectin glomerulopathy"} -{"id": "MONDO_0007672", "parentIds": ["MONDO_0015145", "MONDO_0043218", "MONDO_0016230", "MONDO_0016229"], "name": "glomuvenous malformation"} +{"id": "MONDO_0007672", "parentIds": ["EFO_0000508", "EFO_0006888"], "name": "glomuvenous malformation"} {"id": "MONDO_0007679", "parentIds": ["OTAR_0000018"], "name": "GMS syndrome"} {"id": "MONDO_0007680", "parentIds": ["MONDO_0015161"], "name": "multinodular goiter-cystic kidney-polydactyly syndrome"} {"id": "MONDO_0007681", "parentIds": ["MONDO_0015356", "MONDO_0000334"], "name": "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors"} {"id": "MONDO_0007683", "parentIds": 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"parentIds": ["MONDO_0015227", "MONDO_0019712"], "name": "patella aplasia/hypoplasia"} +{"id": "MONDO_0008201", "parentIds": ["MONDO_0100545", "MONDO_0021095"], "name": "Perry syndrome"} +{"id": "MONDO_0008205", "parentIds": ["MONDO_0018234", "EFO_0000508"], "name": "patella aplasia/hypoplasia"} {"id": "MONDO_0008206", "parentIds": ["EFO_0004280"], "name": "benign paroxysmal tonic upgaze of childhood with ataxia"} -{"id": "MONDO_0008207", "parentIds": ["MONDO_0019712", "MONDO_0002342"], "name": "chondromalacia patellae"} -{"id": "MONDO_0008209", "parentIds": ["MONDO_0015160", "MONDO_0020158", "MONDO_0018758"], "name": "Char syndrome"} +{"id": "MONDO_0008207", "parentIds": ["MONDO_0002342", "MONDO_0018230"], "name": "chondromalacia patellae"} +{"id": "MONDO_0008209", "parentIds": ["MONDO_0100547", "MONDO_0015160", "EFO_0004264", "EFO_0005207"], "name": "Char syndrome"} {"id": "MONDO_0008210", "parentIds": ["MONDO_0020381"], "name": "patterned macular dystrophy 1"} {"id": 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["MONDO_0019565"], "name": "von Willebrand disease 1"} {"id": "MONDO_0008670", "parentIds": ["MONDO_0018094"], "name": "Waardenburg syndrome type 1"} +{"id": "MONDO_0008671", "parentIds": ["MONDO_0019517"], "name": "Waardenburg syndrome type 2A"} {"id": "MONDO_0008672", "parentIds": ["MONDO_0011035"], "name": "Watson syndrome"} -{"id": "MONDO_0008673", "parentIds": ["MONDO_0015161", "MONDO_0800085", "MONDO_0019287", "MONDO_0015334", "MONDO_0018237"], "name": "acrofacial dysostosis, Weyers type"} +{"id": "MONDO_0008673", "parentIds": ["MONDO_0015161", "MONDO_0019287", "MONDO_0018237"], "name": "acrofacial dysostosis, Weyers type"} {"id": "MONDO_0008676", "parentIds": ["MONDO_0015748"], "name": "white sponge nevus 1"} -{"id": "MONDO_0008678", "parentIds": ["MONDO_0100500", "MONDO_0016906", "EFO_0010642"], "name": "Williams syndrome"} +{"id": "MONDO_0008678", "parentIds": ["MONDO_0016906", "EFO_0010642"], "name": "Williams syndrome"} {"id": "MONDO_0008679", "parentIds": ["MONDO_0003321"], 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hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"} +{"id": "MONDO_0008689", "parentIds": ["MONDO_0003689", "MONDO_0017910"], "name": "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema"} {"id": "MONDO_0008691", "parentIds": ["EFO_0000508"], "name": "zinc, elevated plasma"} -{"id": "MONDO_0008692", "parentIds": ["MONDO_0020044", "MONDO_0020127", "MONDO_0015180", "MONDO_0003689", "MONDO_0017774"], "name": "abetalipoproteinemia"} -{"id": "MONDO_0008693", "parentIds": ["MONDO_0020154", "MONDO_0015160"], "name": "ablepharon macrostomia syndrome"} +{"id": "MONDO_0008692", "parentIds": ["MONDO_0020044", "MONDO_0020127", "MONDO_0003689", "EFO_0009431", "MONDO_0017774"], "name": "abetalipoproteinemia"} +{"id": "MONDO_0008693", "parentIds": ["MONDO_0015160", "EFO_0000508"], "name": "ablepharon macrostomia syndrome"} {"id": "MONDO_0008694", "parentIds": ["MONDO_0015159"], "name": "pseudoprogeria syndrome"} {"id": 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"acromesomelic dysplasia 2A"} +{"id": "MONDO_0008703", "parentIds": ["MONDO_0019648", "MONDO_0019696"], "name": "acromesomelic dysplasia 2A"} {"id": "MONDO_0008704", "parentIds": ["MONDO_0017855"], "name": "short-limb skeletal dysplasia with severe combined immunodeficiency"} {"id": "MONDO_0008705", "parentIds": ["MONDO_0002561"], "name": "lysosomal acid phosphatase deficiency"} {"id": "MONDO_0008706", "parentIds": ["MONDO_0015161", "MONDO_0019287"], "name": "Ackerman syndrome"} {"id": "MONDO_0008707", "parentIds": ["MONDO_0015161"], "name": "acro-renal-mandibular syndrome"} -{"id": "MONDO_0008708", "parentIds": ["MONDO_0800066", "MONDO_0015159"], "name": "acrocallosal syndrome"} +{"id": "MONDO_0008708", "parentIds": ["MONDO_0800066", "MONDO_0015159", "MONDO_0800463"], "name": "acrocallosal syndrome"} {"id": "MONDO_0008709", "parentIds": ["MONDO_0015338"], "name": "acrocephalopolydactyly"} {"id": "MONDO_0008710", "parentIds": ["MONDO_0019012"], "name": "RAB23-related Carpenter 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"name": "acromesomelic dysplasia 2C, Hunter-Thompson type"} +{"id": "MONDO_0008719", "parentIds": ["EFO_1000017", "MONDO_0007059"], "name": "acrorenal syndrome, autosomal recessive"} {"id": "MONDO_0008721", "parentIds": ["MONDO_0017714"], "name": "medium chain acyl-CoA dehydrogenase deficiency"} {"id": "MONDO_0008722", "parentIds": ["MONDO_0017714"], "name": "short chain acyl-CoA dehydrogenase deficiency"} {"id": "MONDO_0008723", "parentIds": ["MONDO_0017713", "MONDO_0024573"], "name": "very long chain acyl-CoA dehydrogenase deficiency"} {"id": "MONDO_0008724", "parentIds": ["MONDO_0015168"], "name": "adducted thumbs-arthrogryposis syndrome, Christian type"} -{"id": "MONDO_0008725", "parentIds": ["MONDO_0018479", "MONDO_0957025", "MONDO_0015327", "MONDO_0019852", "MONDO_0017969"], "name": "congenital lipoid adrenal hyperplasia due to STAR deficency"} -{"id": "MONDO_0008727", "parentIds": ["MONDO_0017969", "MONDO_0957024", "MONDO_0019593", "MONDO_0015327", "MONDO_0018479", 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"name": "gelatinous drop-like corneal dystrophy"} +{"id": "MONDO_0008777", "parentIds": ["EFO_0000508", "MONDO_0004686", "MONDO_0000763", "MONDO_0020212"], "name": "gelatinous drop-like corneal dystrophy"} {"id": "MONDO_0008780", "parentIds": ["MONDO_0017593", "MONDO_0100227"], "name": "amyotrophic lateral sclerosis type 2, juvenile"} {"id": "MONDO_0008783", "parentIds": ["MONDO_0001822", "MONDO_0017773"], "name": "Tangier disease"} {"id": "MONDO_0008787", "parentIds": ["MONDO_0000104", "MONDO_0016624", "MONDO_0017763"], "name": "microcytic anemia with liver iron overload"} {"id": "MONDO_0008788", "parentIds": ["MONDO_0016624", "MONDO_0001245"], "name": "IRIDA syndrome"} -{"id": "MONDO_0008791", "parentIds": ["MONDO_0015159", "MONDO_0017059", "MONDO_0000819"], "name": "anencephaly 1"} +{"id": "MONDO_0008791", "parentIds": ["MONDO_0015159", "MONDO_0000819"], "name": "anencephaly 1"} {"id": "MONDO_0008792", "parentIds": ["MONDO_0019296"], "name": "familial angiolipomatosis"} -{"id": 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"name": "Tel Hashomer camptodactyly syndrome"} {"id": "MONDO_0008903", "parentIds": ["MONDO_0021117", "MONDO_0003274", "MONDO_0000376"], "name": "lung cancer"} {"id": "MONDO_0008907", "parentIds": ["MONDO_0017740", "EFO_0005545"], "name": "PMM2-congenital disorder of glycosylation"} -{"id": "MONDO_0008908", "parentIds": ["EFO_0005546", "MONDO_0017740", "MONDO_0015327", "EFO_0003777"], "name": "MGAT2-congenital disorder of glycosylation"} -{"id": "MONDO_0008913", "parentIds": ["MONDO_0017131", "MONDO_0031323"], "name": "cardiac valvular defect, developmental"} -{"id": "MONDO_0008915", "parentIds": ["EFO_0003777", "EFO_0009555", "EFO_0001379"], "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"} -{"id": "MONDO_0008917", "parentIds": ["EFO_1000017", "EFO_0005207", "MONDO_0015161"], "name": "heart defects-limb shortening syndrome"} +{"id": "MONDO_0008908", "parentIds": ["EFO_0005546", "MONDO_0017740", "MONDO_0015327", "MONDO_0100547"], "name": "MGAT2-congenital 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"MONDO_0016801", "MONDO_0018117"], "name": "Sengers syndrome"} {"id": "MONDO_0008923", "parentIds": ["EFO_1000017", "MONDO_0017666", "MONDO_0019287"], "name": "autosomal recessive palmoplantar keratoderma and congenital alopecia"} -{"id": "MONDO_0008924", "parentIds": ["MONDO_0017270"], "name": "congenital cataract-ichthyosis syndrome"} +{"id": "MONDO_0008924", "parentIds": ["MONDO_0015947"], "name": "congenital cataract-ichthyosis syndrome"} {"id": "MONDO_0008925", "parentIds": ["MONDO_0011060"], "name": "cataract 46 juvenile-onset"} -{"id": "MONDO_0008926", "parentIds": ["MONDO_0015327", "EFO_1000017", "EFO_0008499", "MONDO_0016073"], "name": "COFS syndrome"} +{"id": "MONDO_0008926", "parentIds": ["EFO_1000017", "EFO_0008499", "MONDO_0016073"], "name": "COFS syndrome"} {"id": "MONDO_0008928", "parentIds": ["EFO_0009671"], "name": "cataract-ataxia-deafness syndrome"} {"id": "MONDO_0008931", "parentIds": ["MONDO_0019054", "MONDO_0800066"], "name": "Cenani-Lenz syndactyly syndrome"} 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"name": "cerebrooculofacioskeletal syndrome 1"} +{"id": "MONDO_0008958", "parentIds": ["MONDO_0001029"], "name": "Klippel-Feil syndrome 2, autosomal recessive"} {"id": "MONDO_0008959", "parentIds": ["EFO_0000508"], "name": "CHAND syndrome"} -{"id": "MONDO_0008960", "parentIds": ["MONDO_0015361"], "name": "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome"} +{"id": "MONDO_0008960", "parentIds": ["EFO_0000508"], "name": "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome"} {"id": "MONDO_0008961", "parentIds": ["MONDO_0018995", "MONDO_0012014"], "name": "Charcot-Marie-Tooth disease type 4A"} -{"id": "MONDO_0008962", "parentIds": ["MONDO_0018306", "MONDO_0015144"], "name": "Griscelli syndrome type 1"} -{"id": "MONDO_0008963", "parentIds": ["MONDO_0020118", "MONDO_0015134", "MONDO_0004884", "MONDO_0017739", "MONDO_0002320", "MONDO_0015541", "MONDO_0020127", "MONDO_0017305", "MONDO_0024237"], "name": "Chediak-Higashi syndrome"} -{"id": 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"Aagenaes syndrome"} {"id": "MONDO_0008967", "parentIds": ["MONDO_0002320", "EFO_1001980", "EFO_0009039"], "name": "congenital bile acid synthesis defect 4"} {"id": "MONDO_0008970", "parentIds": ["MONDO_0019702"], "name": "chondrodysplasia Blomstrand type"} -{"id": "MONDO_0008972", "parentIds": ["MONDO_0100272", "MONDO_0015776", "MONDO_0015905", "MONDO_0004884"], "name": "rhizomelic chondrodysplasia punctata type 1"} +{"id": "MONDO_0008972", "parentIds": ["MONDO_0004884", "MONDO_0015905", "MONDO_0015776", "MONDO_0100272"], "name": "rhizomelic chondrodysplasia punctata type 1"} {"id": "MONDO_0008973", "parentIds": ["MONDO_0015775"], "name": "chondrodysplasia punctata, Toriello type"} {"id": "MONDO_0008974", "parentIds": ["MONDO_0019701", "MONDO_0021106", "MONDO_0019240"], "name": "Greenberg dysplasia"} {"id": "MONDO_0008975", "parentIds": ["MONDO_0016761"], "name": "otospondylomegaepiphyseal dysplasia"} @@ -3781,72 +5346,79 @@ {"id": "MONDO_0008979", "parentIds": ["EFO_0004152"], 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"parentIds": ["EFO_0000508"], "name": "Jalili syndrome"} +{"id": "MONDO_0009008", "parentIds": ["MONDO_0015161", "EFO_0000508"], "name": "heart defect - tongue hamartoma - polysyndactyly syndrome"} {"id": "MONDO_0009009", "parentIds": ["MONDO_0002242", "MONDO_0021181"], "name": "hypoplasminogenemia"} -{"id": "MONDO_0009012", "parentIds": ["MONDO_0015168", "MONDO_0002320"], "name": "multiple pterygium-malignant hyperthermia syndrome"} -{"id": "MONDO_0009015", "parentIds": ["MONDO_0020215"], "name": "corneal dystrophy-perceptive deafness syndrome"} +{"id": "MONDO_0009010", "parentIds": ["MONDO_0020292"], "name": "aortic arch interruption"} +{"id": "MONDO_0009012", "parentIds": ["MONDO_0015168", "MONDO_0100545", "MONDO_0002320"], "name": "multiple pterygium-malignant hyperthermia syndrome"} +{"id": "MONDO_0009014", "parentIds": ["MONDO_0000733"], "name": "cornea plana 2"} +{"id": "MONDO_0009015", "parentIds": ["EFO_0000508"], "name": "corneal dystrophy-perceptive deafness syndrome"} {"id": "MONDO_0009018", "parentIds": ["MONDO_0020213", "MONDO_0020214"], "name": "central cloudy dystrophy of François"} -{"id": "MONDO_0009019", "parentIds": ["MONDO_0020214", "MONDO_0000766"], "name": "congenital hereditary endothelial dystrophy of cornea"} +{"id": "MONDO_0009019", "parentIds": ["MONDO_0000766", "EFO_0000508", "MONDO_0020214"], "name": "congenital hereditary endothelial dystrophy of cornea"} {"id": "MONDO_0009020", "parentIds": ["MONDO_0020242", "MONDO_0020213"], "name": "macular corneal dystrophy"} {"id": "MONDO_0009021", "parentIds": ["MONDO_0015160"], "name": "Toriello-Carey syndrome"} -{"id": "MONDO_0009024", "parentIds": ["MONDO_0015368", "MONDO_0015159"], "name": "cortical blindness-intellectual disability-polydactyly syndrome"} +{"id": "MONDO_0009024", "parentIds": ["MONDO_0015159", "MONDO_0024458"], "name": "cortical blindness-intellectual disability-polydactyly syndrome"} {"id": "MONDO_0009025", "parentIds": ["EFO_0005539", "EFO_0005590", "MONDO_0015905"], "name": "apparent mineralocorticoid excess"} {"id": "MONDO_0009026", "parentIds": ["MONDO_0015159", "MONDO_0000426", "MONDO_0020297"], "name": "Costello syndrome"} {"id": "MONDO_0009028", "parentIds": ["EFO_0000508"], "name": "Crane-Heise syndrome"} -{"id": "MONDO_0009031", "parentIds": ["MONDO_0015465", "MONDO_0002185", "MONDO_0020018"], "name": "craniodiaphyseal dysplasia"} +{"id": "MONDO_0009031", "parentIds": ["MONDO_0015465", "MONDO_0002185"], "name": "craniodiaphyseal dysplasia"} {"id": "MONDO_0009032", "parentIds": ["MONDO_0015962", "MONDO_0015338", "MONDO_0011679", "MONDO_0015461", "MONDO_0019287"], "name": "cranioectodermal dysplasia"} -{"id": "MONDO_0009033", "parentIds": ["MONDO_0015159"], "name": "temtamy syndrome"} -{"id": "MONDO_0009034", "parentIds": ["MONDO_0020018"], "name": "craniofacial dyssynostosis"} +{"id": "MONDO_0009033", "parentIds": ["MONDO_0015159", "EFO_0000508"], "name": "temtamy syndrome"} +{"id": "MONDO_0009034", "parentIds": ["OTAR_0000018"], "name": "craniofacial dyssynostosis"} +{"id": "MONDO_0009035", "parentIds": ["MONDO_0015465", "EFO_1000017"], "name": "craniometaphyseal dysplasia, autosomal recessive"} {"id": "MONDO_0009036", "parentIds": ["MONDO_0015338", "MONDO_0015159"], "name": "cardiocranial syndrome, Pfeiffer type"} {"id": "MONDO_0009038", "parentIds": ["MONDO_0015338"], "name": "craniosynostosis-fibular aplasia syndrome"} -{"id": "MONDO_0009039", "parentIds": ["MONDO_0015246", "MONDO_0015338"], "name": "Baller-Gerold syndrome"} +{"id": "MONDO_0009039", "parentIds": ["MONDO_0015338"], "name": "Baller-Gerold syndrome"} {"id": "MONDO_0009042", "parentIds": ["MONDO_0018838", "MONDO_0015338"], "name": "craniotelencephalic dysplasia"} {"id": "MONDO_0009043", "parentIds": ["EFO_0009189", "MONDO_0001328"], "name": "generalized resistance to thyroid hormone"} {"id": "MONDO_0009044", "parentIds": ["MONDO_0002408"], "name": "Crigler-Najjar syndrome"} {"id": "MONDO_0009045", "parentIds": ["OTAR_0000018"], "name": "cataract-nephropathy-encephalopathy syndrome"} -{"id": "MONDO_0009046", "parentIds": ["MONDO_0015161", "MONDO_0020153", "EFO_1000017", "MONDO_0015246"], "name": "Fraser syndrome"} +{"id": "MONDO_0009046", "parentIds": ["MONDO_0015161", "EFO_1000017", "MONDO_0020153"], "name": "Fraser syndrome"} +{"id": "MONDO_0009052", "parentIds": ["MONDO_0019572"], "name": "cutis laxa, autosomal recessive, type 1A"} {"id": "MONDO_0009053", "parentIds": ["MONDO_0015327", "MONDO_0100237", "MONDO_0100126", "MONDO_0017569"], "name": "ALDH18A1-related de Barsy syndrome"} {"id": "MONDO_0009054", "parentIds": ["MONDO_0100237"], "name": "autosomal recessive cutis laxa type 2, classic type"} {"id": "MONDO_0009058", "parentIds": ["MONDO_0019222", "MONDO_0004736"], "name": "cystathioninuria"} {"id": "MONDO_0009061", "parentIds": ["EFO_1000017", "EFO_0000684"], "name": "cystic fibrosis"} -{"id": "MONDO_0009062", "parentIds": ["MONDO_0015617", "EFO_0000508"], "name": "cystic fibrosis-gastritis-megaloblastic 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["OTAR_0000018"], "name": "high myopia-sensorineural deafness syndrome"} +{"id": "MONDO_0009079", "parentIds": ["EFO_0000508"], "name": "DOORS syndrome"} +{"id": "MONDO_0009080", "parentIds": ["MONDO_0019054", "MONDO_0015161", "MONDO_0018234", "MONDO_0018230"], "name": "split hand-foot malformation 1 with sensorineural hearing loss"} +{"id": "MONDO_0009082", "parentIds": ["EFO_0000508"], "name": "high myopia-sensorineural deafness syndrome"} {"id": "MONDO_0009084", "parentIds": ["MONDO_0019287"], "name": "conductive deafness-ptosis-skeletal anomalies syndrome"} {"id": "MONDO_0009085", "parentIds": ["EFO_0000508"], "name": "deafness-vitiligo-achalasia syndrome"} {"id": "MONDO_0009086", "parentIds": ["EFO_0000508"], "name": "deafness-small bowel diverticulosis-neuropathy syndrome"} {"id": "MONDO_0009089", "parentIds": ["OTAR_0000018"], "name": "deafness-oligodontia syndrome"} +{"id": "MONDO_0009090", "parentIds": ["MONDO_0010779"], "name": "hearing loss, sensorineural, 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["MONDO_0015160", "EFO_1000017"], "name": "Donnai-Barrow syndrome"} -{"id": "MONDO_0009105", "parentIds": ["MONDO_0015135", "MONDO_0019126", "MONDO_0015508", "MONDO_0018782", "MONDO_0023603"], "name": "trichohepatoenteric syndrome"} +{"id": "MONDO_0009105", "parentIds": ["MONDO_0957408", "EFO_0009431", "MONDO_0003778", "MONDO_0023603"], "name": "trichohepatoenteric syndrome"} {"id": "MONDO_0009106", "parentIds": ["MONDO_0018075", "MONDO_0002320"], "name": "diastematomyelia"} -{"id": "MONDO_0009107", "parentIds": ["EFO_0005571", "MONDO_0019688"], "name": "diastrophic dysplasia"} +{"id": "MONDO_0009107", "parentIds": ["MONDO_0019052", "EFO_0005571", "EFO_0009556"], "name": "diastrophic dysplasia"} {"id": "MONDO_0009108", "parentIds": ["MONDO_0019216"], "name": "hyperdibasic aminoaciduria type 1"} {"id": "MONDO_0009109", "parentIds": ["MONDO_0019216"], "name": "lysinuric protein intolerance"} {"id": "MONDO_0009110", "parentIds": ["MONDO_0019216"], "name": "dicarboxylic aminoaciduria"} @@ -3855,81 +5427,85 @@ {"id": "MONDO_0009113", "parentIds": ["MONDO_0020585", "MONDO_0019052", "MONDO_0003689"], "name": "hemolytic anemia due to diphosphoglycerate mutase deficiency"} {"id": "MONDO_0009114", "parentIds": ["MONDO_0017706", "EFO_1000060"], "name": "congenital sucrase-isomaltase deficiency"} {"id": "MONDO_0009115", "parentIds": ["MONDO_0017706"], "name": "congenital lactase deficiency"} -{"id": "MONDO_0009120", "parentIds": ["MONDO_0015212"], "name": "diverticulosis of bowel, hernia, and retinal detachment"} +{"id": "MONDO_0009120", "parentIds": ["EFO_0010282"], "name": "diverticulosis of bowel, hernia, and retinal detachment"} {"id": "MONDO_0009121", "parentIds": ["MONDO_0015161"], "name": "von Voss-Cherstvoy syndrome"} -{"id": "MONDO_0009123", "parentIds": ["MONDO_0021272", "MONDO_0020158", "MONDO_0017759"], "name": "orthostatic hypotension 1"} -{"id": "MONDO_0009124", "parentIds": ["MONDO_0015159", "MONDO_0020158", "MONDO_0019287"], "name": "Dubowitz syndrome"} -{"id": "MONDO_0009126", "parentIds": ["MONDO_0015211", "MONDO_0001045", "MONDO_0015209"], "name": "duodenal atresia"} +{"id": "MONDO_0009123", "parentIds": ["MONDO_0021272", "MONDO_0017759"], "name": "orthostatic hypotension 1"} +{"id": "MONDO_0009124", "parentIds": ["MONDO_0015159", "MONDO_0019287"], "name": "Dubowitz syndrome"} +{"id": "MONDO_0009126", "parentIds": ["MONDO_0001045"], "name": "duodenal atresia"} {"id": "MONDO_0009128", "parentIds": ["EFO_0000508"], "name": "dwarfism, intellectual disability, and eye abnormality"} {"id": "MONDO_0009130", "parentIds": ["MONDO_0016761"], "name": "Dyggve-Melchior-Clausen disease"} -{"id": "MONDO_0009131", "parentIds": ["MONDO_0015366"], "name": "Riley-Day syndrome"} +{"id": "MONDO_0009131", "parentIds": ["MONDO_0100545"], "name": "Riley-Day syndrome"} {"id": "MONDO_0009133", "parentIds": ["MONDO_0020043"], "name": "cerebellar ataxia, intellectual disability, and dysequilibrium"} -{"id": "MONDO_0009134", "parentIds": ["MONDO_0017749", "MONDO_0019403", "MONDO_0000577"], "name": "congenital dyserythropoietic anemia type 2"} +{"id": "MONDO_0009134", "parentIds": ["MONDO_0017749", "MONDO_0000577", "MONDO_0019403"], "name": "congenital dyserythropoietic anemia type 2"} {"id": "MONDO_0009138", "parentIds": ["MONDO_0017198"], "name": "dysosteosclerosis"} -{"id": "MONDO_0009139", "parentIds": ["MONDO_0019689", "MONDO_0016761"], "name": "dyssegmental dysplasia, Rolland-Desbuquois type"} -{"id": "MONDO_0009140", "parentIds": ["MONDO_0016151", "MONDO_0016761", "MONDO_0019689"], "name": "Silverman-Handmaker type dyssegmental dysplasia"} +{"id": "MONDO_0009139", "parentIds": ["MONDO_0016761"], "name": "dyssegmental dysplasia, Rolland-Desbuquois type"} +{"id": "MONDO_0009140", "parentIds": ["MONDO_0016151", "MONDO_0016761"], "name": "Silverman-Handmaker type dyssegmental dysplasia"} {"id": "MONDO_0009141", "parentIds": ["MONDO_0015990"], "name": "torsion dystonia 2"} {"id": "MONDO_0009145", "parentIds": ["MONDO_0100358", "MONDO_0017666", "EFO_1000017"], "name": "SchC6pf-Schulz-Passarge syndrome"} {"id": "MONDO_0009146", "parentIds": ["MONDO_0019287"], "name": "ectodermal dysplasia-sensorineural deafness syndrome"} {"id": "MONDO_0009148", "parentIds": ["MONDO_0007124"], "name": "Rosselli-Gulienetti syndrome"} {"id": "MONDO_0009149", "parentIds": ["MONDO_0019287"], "name": "ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"} -{"id": "MONDO_0009150", "parentIds": ["MONDO_0019287", "MONDO_0015778"], "name": "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome"} +{"id": "MONDO_0009150", "parentIds": ["MONDO_0019287", "EFO_0001379"], "name": "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome"} {"id": "MONDO_0009151", "parentIds": ["MONDO_0019287", "EFO_1000017", "MONDO_0000358"], "name": "cleft lip/palate-ectodermal dysplasia syndrome"} -{"id": "MONDO_0009155", "parentIds": ["MONDO_0800090", "MONDO_0019287", "MONDO_0002320", "MONDO_0018454", "MONDO_0019054", "MONDO_0020242"], "name": "EEM syndrome"} +{"id": "MONDO_0009154", "parentIds": ["MONDO_0000045"], "name": "hypothyroidism, congenital, nongoitrous, 5"} +{"id": "MONDO_0009155", "parentIds": ["MONDO_0019287", "MONDO_0002320", "MONDO_0019054", "MONDO_0018234", "MONDO_0020242"], "name": "EEM syndrome"} {"id": "MONDO_0009156", "parentIds": ["MONDO_0019054"], "name": "ectrodactyly-polydactyly syndrome"} {"id": "MONDO_0009158", "parentIds": ["MONDO_0021181", "MONDO_0000009", "MONDO_0020066"], "name": "Ehlers-Danlos syndrome, fibronectinemic type"} -{"id": "MONDO_0009159", "parentIds": ["EFO_0003777", "MONDO_0020066"], "name": "Ehlers-Danlos syndrome, cardiac valvular type"} +{"id": "MONDO_0009159", "parentIds": ["MONDO_0100547", "MONDO_0020066"], "name": "Ehlers-Danlos syndrome, cardiac valvular type"} {"id": "MONDO_0009161", "parentIds": ["MONDO_0020066"], "name": "Ehlers-Danlos syndrome, dermatosparaxis type"} -{"id": "MONDO_0009162", "parentIds": ["MONDO_0019287", "MONDO_0018770", "EFO_0003777", "EFO_1000017"], "name": "Ellis-van Creveld syndrome"} +{"id": "MONDO_0009162", "parentIds": ["MONDO_0019287", "MONDO_0018770", "EFO_1000017", "MONDO_0100547"], "name": "Ellis-van Creveld syndrome"} +{"id": "MONDO_0009165", "parentIds": ["MONDO_0700256", "MONDO_0018866"], "name": "Aicardi-Goutieres syndrome 1"} {"id": "MONDO_0009166", "parentIds": ["MONDO_0020135"], "name": "pontocerebellar hypoplasia type 4"} {"id": "MONDO_0009167", "parentIds": ["MONDO_0015159", "MONDO_0100198"], "name": "Bonnemann-Meinecke-Reich syndrome"} -{"id": "MONDO_0009168", "parentIds": ["OTAR_0000018"], "name": "Fowler syndrome"} -{"id": "MONDO_0009173", "parentIds": ["EFO_0010282"], "name": "congenital enteropathy due to enteropeptidase deficiency"} -{"id": "MONDO_0009176", "parentIds": ["MONDO_0100118", "MONDO_0015135"], "name": "epidermodysplasia verruciformis"} +{"id": "MONDO_0009168", "parentIds": ["EFO_0000508"], "name": "Fowler syndrome"} 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["MONDO_0016761", "EFO_1000017"], "name": "Wolcott-Rallison syndrome"} {"id": "MONDO_0009196", "parentIds": ["OTAR_0000018"], "name": "ermine phenotype"} {"id": "MONDO_0009198", "parentIds": ["EFO_0000701"], "name": "congenital lethal erythroderma"} {"id": "MONDO_0009200", "parentIds": ["OTAR_0000018"], "name": "eyebrow duplication-syndactyly syndrome"} {"id": "MONDO_0009203", "parentIds": ["MONDO_0018363"], "name": "focal facial dermal dysplasia type III"} -{"id": "MONDO_0009204", "parentIds": ["MONDO_0019054", "MONDO_0018454", "MONDO_0015160"], "name": "lethal faciocardiomelic dysplasia"} +{"id": "MONDO_0009204", "parentIds": ["MONDO_0019054", "MONDO_0018234", "EFO_0000508", "MONDO_0015160"], "name": "lethal faciocardiomelic dysplasia"} {"id": "MONDO_0009205", "parentIds": ["MONDO_0015159"], "name": "faciocardiorenal syndrome"} -{"id": "MONDO_0009206", "parentIds": ["MONDO_0018175"], "name": "factor V and factor VIII, combined deficiency of, type 1"} +{"id": "MONDO_0009206", "parentIds": ["MONDO_0021181", "MONDO_0018175"], "name": "factor V and factor VIII, combined deficiency of, type 1"} {"id": "MONDO_0009209", "parentIds": ["EFO_1000017", "MONDO_0021005", "MONDO_0015161"], "name": "autosomal recessive faciodigitogenital syndrome"} -{"id": "MONDO_0009210", "parentIds": ["MONDO_0002243", "MONDO_0020586", "MONDO_0021181"], "name": "congenital factor V deficiency"} +{"id": "MONDO_0009210", "parentIds": ["MONDO_0002243", "MONDO_0021181", "MONDO_0020586"], "name": "congenital factor V deficiency"} {"id": "MONDO_0009211", "parentIds": ["MONDO_0015722", "MONDO_0002244"], "name": "congenital factor VII deficiency"} {"id": "MONDO_0009212", "parentIds": ["MONDO_0015722", "MONDO_0002247"], "name": "congenital factor X deficiency"} {"id": "MONDO_0009213", "parentIds": ["MONDO_0019391"], "name": "Fanconi anemia complementation group C"} {"id": "MONDO_0009214", "parentIds": ["MONDO_0019391"], "name": "Fanconi anemia complementation group D2"} {"id": "MONDO_0009216", "parentIds": ["MONDO_0002412"], "name": "glycogen storage disease due to GLUT2 deficiency"} -{"id": "MONDO_0009218", "parentIds": ["MONDO_0100524"], "name": "Farber lipogranulomatosis"} -{"id": "MONDO_0009221", "parentIds": ["MONDO_0019713"], "name": "femur-fibula-ulna complex"} -{"id": "MONDO_0009222", "parentIds": ["MONDO_0019713"], "name": "Gollop-Wolfgang complex"} -{"id": "MONDO_0009223", "parentIds": ["MONDO_0018555", "MONDO_0019155"], "name": "hypogonadotropic hypogonadism 23 with or without anosmia"} +{"id": "MONDO_0009218", "parentIds": ["MONDO_0100524", "MONDO_0800460"], "name": "Farber lipogranulomatosis"} +{"id": "MONDO_0009221", "parentIds": ["MONDO_0019713", "MONDO_0019054", "MONDO_0018234"], "name": "femur-fibula-ulna complex"} +{"id": "MONDO_0009222", "parentIds": ["MONDO_0019713", "MONDO_0018234", "MONDO_0019054"], "name": "Gollop-Wolfgang complex"} +{"id": "MONDO_0009223", "parentIds": ["MONDO_0019155", "MONDO_0018555"], "name": "hypogonadotropic hypogonadism 23 with or without anosmia"} +{"id": "MONDO_0009226", "parentIds": ["MONDO_0016068"], "name": "fibrochondrogenesis 1"} +{"id": "MONDO_0009227", "parentIds": ["MONDO_0016824"], "name": "myofibromatosis, infantile, 1"} {"id": "MONDO_0009228", "parentIds": ["MONDO_0015161"], "name": "gingival fibromatosis-facial dysmorphism syndrome"} {"id": "MONDO_0009229", "parentIds": ["MONDO_0019707"], "name": "hyaline fibromatosis syndrome"} {"id": "MONDO_0009230", "parentIds": ["MONDO_0018848", "EFO_0000508"], "name": "fibrosclerosis, multifocal"} -{"id": "MONDO_0009231", "parentIds": ["EFO_1000017", "MONDO_0019696", "MONDO_0019054", "MONDO_0018454"], "name": "acromesomelic dysplasia 2B"} -{"id": "MONDO_0009232", "parentIds": ["MONDO_0019713"], "name": "Fuhrmann syndrome"} +{"id": "MONDO_0009231", "parentIds": ["MONDO_0018234", "EFO_1000017", "MONDO_0019696", "MONDO_0019054"], "name": "acromesomelic dysplasia 2B"} +{"id": "MONDO_0009232", "parentIds": ["MONDO_0019054", "MONDO_0019713", "MONDO_0018234"], "name": "Fuhrmann syndrome"} {"id": "MONDO_0009233", "parentIds": ["MONDO_0015161"], "name": "Fibulo-ulnar hypoplasia-renal anomalies syndrome"} -{"id": "MONDO_0009234", "parentIds": ["MONDO_0002243", "MONDO_0002242"], "name": "congenital high-molecular-weight kininogen deficiency"} +{"id": "MONDO_0009234", "parentIds": ["MONDO_0002243", "MONDO_0021181", "MONDO_0002242"], "name": "congenital high-molecular-weight kininogen deficiency"} {"id": "MONDO_0009235", "parentIds": ["MONDO_0019118"], "name": "familial benign flecked retina"} {"id": "MONDO_0009236", "parentIds": ["MONDO_0016420"], "name": "Kandori fleck retina"} -{"id": "MONDO_0009238", "parentIds": ["MONDO_0016624", "MONDO_0015179", "MONDO_0017313", "MONDO_0015823", "MONDO_0001700"], "name": "hereditary folate malabsorption"} +{"id": "MONDO_0009238", "parentIds": ["MONDO_0016624", "MONDO_0017313", "MONDO_0001700", "EFO_0009554"], "name": "hereditary folate malabsorption"} {"id": "MONDO_0009239", "parentIds": ["MONDO_0018555"], "name": "hypogonadotropic hypogonadism 24 without anosmia"} {"id": "MONDO_0009240", "parentIds": ["MONDO_0001700", "MONDO_0016624", "MONDO_0017313"], "name": "formiminoglutamic aciduria"} {"id": "MONDO_0009241", "parentIds": ["MONDO_0015159"], "name": "fountain syndrome"} {"id": "MONDO_0009242", "parentIds": ["MONDO_0020066", "EFO_0009464", "EFO_1000017", "MONDO_0023603"], "name": "brittle cornea syndrome"} -{"id": "MONDO_0009247", "parentIds": ["MONDO_0020157", "MONDO_0020156", "MONDO_0015412", "MONDO_0015161", "MONDO_0016643", "MONDO_0015334"], "name": "frontofacionasal dysplasia"} +{"id": "MONDO_0009247", "parentIds": ["MONDO_0015161", "MONDO_0016643"], "name": "frontofacionasal dysplasia"} {"id": "MONDO_0009249", "parentIds": ["MONDO_0017689", "MONDO_0800152"], "name": "hereditary fructose intolerance"} {"id": "MONDO_0009251", "parentIds": ["MONDO_0019225"], "name": "fructose-1,6-bisphosphatase deficiency"} {"id": "MONDO_0009252", "parentIds": ["MONDO_0800152", "MONDO_0017689"], "name": "essential fructosuria"} @@ -3943,19 +5519,19 @@ {"id": "MONDO_0009261", "parentIds": ["MONDO_0018149"], "name": "GM1 gangliosidosis type 2"} {"id": "MONDO_0009262", "parentIds": ["MONDO_0018149"], "name": "GM1 gangliosidosis type 3"} {"id": "MONDO_0009263", "parentIds": ["MONDO_0019287", "MONDO_0015159"], "name": "GAPO syndrome"} -{"id": "MONDO_0009265", "parentIds": ["MONDO_0018374", "MONDO_0016340", "MONDO_0018384", "MONDO_0020143", "MONDO_0018150"], "name": "Gaucher disease type I"} +{"id": "MONDO_0009265", "parentIds": ["MONDO_0018374", "MONDO_0016340", "MONDO_0020143", "MONDO_0018383", "MONDO_0018150"], "name": "Gaucher disease type I"} {"id": "MONDO_0009266", "parentIds": ["MONDO_0018150"], "name": "Gaucher disease type II"} {"id": "MONDO_0009267", "parentIds": ["MONDO_0018150"], "name": "Gaucher disease type III"} {"id": "MONDO_0009268", "parentIds": ["MONDO_0018150"], "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"} {"id": "MONDO_0009270", "parentIds": ["MONDO_0015161", "EFO_0001379"], "name": "genito-palato-cardiac syndrome"} {"id": "MONDO_0009271", "parentIds": ["MONDO_0100237", "MONDO_0800064"], "name": "geroderma osteodysplastica"} -{"id": "MONDO_0009272", "parentIds": ["MONDO_0019313", "MONDO_0019175", "MONDO_0016009", "MONDO_0019520"], "name": "German syndrome"} +{"id": "MONDO_0009272", "parentIds": ["MONDO_0019175", "MONDO_0016009"], "name": "German syndrome"} {"id": "MONDO_0009273", "parentIds": ["MONDO_0016785", "MONDO_0018944"], "name": "hydatidiform mole, recurrent, 1"} -{"id": "MONDO_0009274", "parentIds": ["MONDO_0800084"], "name": "ghosal hematodiaphyseal dysplasia"} +{"id": "MONDO_0009274", "parentIds": ["MONDO_0018230"], "name": "ghosal hematodiaphyseal dysplasia"} {"id": "MONDO_0009275", "parentIds": ["MONDO_0006507"], "name": "neonatal hemochromatosis"} -{"id": "MONDO_0009276", "parentIds": ["MONDO_0000009", "MONDO_0016361"], "name": "Bernard-Soulier syndrome"} -{"id": "MONDO_0009279", "parentIds": ["MONDO_0002320", "EFO_1000017", "MONDO_0015129", "MONDO_0015208", "MONDO_0020127", "MONDO_0020194"], "name": "triple-A syndrome"} -{"id": "MONDO_0009281", "parentIds": ["MONDO_0000129", "MONDO_0019213"], "name": "glutaryl-CoA dehydrogenase deficiency"} +{"id": "MONDO_0009276", "parentIds": ["MONDO_0000009"], "name": "Bernard-Soulier syndrome"} +{"id": "MONDO_0009279", "parentIds": ["EFO_1000017", "MONDO_0015129"], "name": "triple-A syndrome"} +{"id": "MONDO_0009281", "parentIds": ["MONDO_0100545", "MONDO_0000129", "MONDO_0000688"], "name": "glutaryl-CoA dehydrogenase deficiency"} {"id": "MONDO_0009282", "parentIds": ["MONDO_0017714", "MONDO_0000129", "MONDO_0004069", "MONDO_0024573"], "name": "multiple acyl-CoA dehydrogenase deficiency"} {"id": "MONDO_0009283", "parentIds": ["MONDO_0000129", "MONDO_0000688"], "name": "glutaric acidemia type 3"} {"id": "MONDO_0009284", "parentIds": ["MONDO_0017909"], "name": "glutathione synthetase deficiency without 5-oxoprolinuria"} @@ -3968,30 +5544,33 @@ {"id": "MONDO_0009293", "parentIds": ["MONDO_0002412"], "name": "glycogen storage disease V"} {"id": "MONDO_0009294", "parentIds": ["MONDO_0002412"], "name": "glycogen storage disease VI"} {"id": "MONDO_0009295", "parentIds": ["MONDO_0003689", "MONDO_0002412", "MONDO_0020585", "MONDO_0017688"], "name": "glycogen storage disease VII"} +{"id": "MONDO_0009296", "parentIds": ["MONDO_0002561"], "name": "glycoprotein storage disease"} {"id": "MONDO_0009297", "parentIds": ["MONDO_0019226", "MONDO_0100191", "EFO_1000647"], "name": "familial renal glucosuria"} -{"id": "MONDO_0009299", "parentIds": ["MONDO_0017961", "MONDO_0001967", "MONDO_0957024", "MONDO_0019852"], "name": "46 XX gonadal dysgenesis"} +{"id": "MONDO_0009299", "parentIds": ["MONDO_0001967", "MONDO_0019852"], "name": "46 XX gonadal dysgenesis"} +{"id": "MONDO_0009300", "parentIds": ["MONDO_0017312"], "name": "Perrault syndrome 1"} {"id": "MONDO_0009302", "parentIds": ["MONDO_0020040"], "name": "XY type gonadal dysgenesis-associated anomalies syndrome"} {"id": "MONDO_0009305", "parentIds": ["EFO_0000508"], "name": "granulocytopenia with immunoglobulin abnormality"} {"id": "MONDO_0009306", "parentIds": ["MONDO_0017855", "MONDO_0100118"], "name": "combined immunodeficiency with skin granulomas"} {"id": "MONDO_0009312", "parentIds": ["MONDO_0020087"], "name": "lipodystrophy due to peptidic growth factors deficiency"} {"id": "MONDO_0009313", "parentIds": ["OTAR_0000018"], "name": "Grubben-de Cock-Borghgraef syndrome"} -{"id": "MONDO_0009315", "parentIds": ["MONDO_0002242", "MONDO_0021181", "MONDO_0009332", "MONDO_0000429", "MONDO_0002243"], "name": "congenital factor XII deficiency"} +{"id": "MONDO_0009315", "parentIds": ["MONDO_0000429", "MONDO_0021181", "MONDO_0002242", "MONDO_0002243", "MONDO_0009332"], "name": "congenital factor XII deficiency"} {"id": "MONDO_0009318", "parentIds": ["MONDO_0019303", "MONDO_0800063"], "name": "Hallermann-Streiff syndrome"} -{"id": "MONDO_0009319", "parentIds": ["MONDO_0015905", "MONDO_0018117", "MONDO_0018307", "MONDO_0016987", "MONDO_0020240", "MONDO_0004884", "MONDO_0017760"], "name": "pantothenate kinase-associated neurodegeneration"} +{"id": "MONDO_0009319", "parentIds": ["MONDO_0018117", "MONDO_0018307", "MONDO_0016987"], "name": "pantothenate kinase-associated neurodegeneration"} {"id": "MONDO_0009320", "parentIds": ["MONDO_0015159"], "name": "Hall-Riggs syndrome"} {"id": "MONDO_0009321", "parentIds": ["MONDO_0019054"], "name": "hallux varus-preaxial polysyndactyly syndrome"} {"id": "MONDO_0009324", "parentIds": ["MONDO_0019216"], "name": "Hartnup disease"} {"id": "MONDO_0009326", "parentIds": ["MONDO_0000465"], "name": "congenital heart block"} {"id": "MONDO_0009329", "parentIds": ["MONDO_0009937"], "name": "pulmonary venoocclusive disease 2"} +{"id": "MONDO_0009330", "parentIds": ["MONDO_0016238", "MONDO_0005094"], "name": "hemangiopericytoma, malignant"} {"id": "MONDO_0009331", "parentIds": ["MONDO_0019716"], "name": "isolated hemihyperplasia"} {"id": "MONDO_0009332", "parentIds": ["EFO_0005803"], "name": "congenital hematological disorder"} -{"id": "MONDO_0009333", "parentIds": ["MONDO_0019175", "MONDO_0019520"], "name": "mullerian derivatives-lymphangiectasia-polydactyly syndrome"} -{"id": "MONDO_0009338", "parentIds": ["MONDO_0019514", "MONDO_0015823"], "name": "hepatic veno-occlusive disease-immunodeficiency syndrome"} +{"id": "MONDO_0009333", "parentIds": ["MONDO_0019175"], "name": "mullerian derivatives-lymphangiectasia-polydactyly syndrome"} +{"id": "MONDO_0009338", "parentIds": ["MONDO_0019514", "MONDO_0003778"], "name": "hepatic veno-occlusive disease-immunodeficiency syndrome"} {"id": "MONDO_0009339", "parentIds": ["EFO_0009039"], "name": "congenital bile acid synthesis defect 2"} {"id": "MONDO_0009340", "parentIds": ["MONDO_0003689", "MONDO_0020585", "MONDO_0017688"], "name": "non-spherocytic hemolytic anemia due to hexokinase deficiency"} -{"id": "MONDO_0009341", "parentIds": ["MONDO_0015653", "MONDO_0015212", "MONDO_0002320", "MONDO_0015159", "MONDO_0000508"], "name": "Mowat-Wilson syndrome"} -{"id": "MONDO_0009342", "parentIds": ["MONDO_0015161", "MONDO_0015246", "MONDO_0021189"], "name": "Hirschsprung disease-hearing loss-polydactyly syndrome"} -{"id": "MONDO_0009344", "parentIds": ["MONDO_0015246", "MONDO_0021189"], "name": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome"} +{"id": "MONDO_0009341", "parentIds": ["MONDO_0015653", "MONDO_0002320", "MONDO_0015159", "MONDO_0100545", "MONDO_0000508"], "name": "Mowat-Wilson syndrome"} +{"id": "MONDO_0009342", "parentIds": ["MONDO_0015161", "MONDO_0021189"], "name": "Hirschsprung disease-hearing loss-polydactyly syndrome"} +{"id": "MONDO_0009344", "parentIds": ["MONDO_0021189"], "name": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome"} {"id": "MONDO_0009345", "parentIds": ["MONDO_0019228"], "name": "histidinemia"} {"id": "MONDO_0009346", "parentIds": ["MONDO_0019216", "MONDO_0009345"], "name": "histidinuria due to a renal tubular defect"} {"id": "MONDO_0009348", "parentIds": ["EFO_0000183"], "name": "classic Hodgkin lymphoma"} @@ -4000,11 +5579,12 @@ {"id": "MONDO_0009352", "parentIds": ["MONDO_0004737", "MONDO_0015327", "EFO_0009674"], "name": "classic homocystinuria"} {"id": "MONDO_0009353", "parentIds": ["MONDO_0017313", "MONDO_0020127", "MONDO_0004737"], "name": "homocystinuria due to methylene tetrahydrofolate reductase deficiency"} {"id": "MONDO_0009354", "parentIds": ["MONDO_0018964"], "name": "methylcobalamin deficiency type cblE"} -{"id": "MONDO_0009359", "parentIds": ["MONDO_0015620", "MONDO_0018731", "MONDO_0043009", "EFO_1000017"], "name": "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"} -{"id": "MONDO_0009362", "parentIds": ["MONDO_0015222", "MONDO_0015930"], "name": "growth delay-hydrocephaly-lung hypoplasia syndrome"} +{"id": "MONDO_0009356", "parentIds": ["MONDO_0007737", "EFO_1000017"], "name": "autosomal recessive humeroradial synostosis"} +{"id": "MONDO_0009359", "parentIds": ["MONDO_0043009", "EFO_1000017"], "name": "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"} +{"id": "MONDO_0009362", "parentIds": ["EFO_0000684"], "name": "growth delay-hydrocephaly-lung hypoplasia syndrome"} {"id": "MONDO_0009363", "parentIds": ["MONDO_0015161"], "name": "hydrocephaly-tall stature-joint laxity syndrome"} -{"id": "MONDO_0009364", "parentIds": ["MONDO_0000171", "MONDO_0700070"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1"} -{"id": "MONDO_0009367", "parentIds": ["MONDO_0015161"], "name": "McKusick-Kaufman syndrome"} +{"id": "MONDO_0009364", "parentIds": ["MONDO_0018939", "MONDO_0000171", "MONDO_0700070"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1"} +{"id": "MONDO_0009367", "parentIds": ["MONDO_0015161", "EFO_0000508"], "name": "McKusick-Kaufman syndrome"} {"id": "MONDO_0009370", "parentIds": ["MONDO_0016001"], "name": "L-2-hydroxyglutaric aciduria"} {"id": "MONDO_0009371", "parentIds": ["MONDO_0019242", "MONDO_0037870", "MONDO_0019215"], "name": "3-hydroxyisobutyric aciduria"} {"id": "MONDO_0009372", "parentIds": ["MONDO_0017350"], "name": "encephalopathy due to hydroxykynureninuria"} @@ -4015,130 +5595,136 @@ {"id": "MONDO_0009379", "parentIds": ["MONDO_0002408"], "name": "Rotor syndrome"} {"id": "MONDO_0009380", "parentIds": ["MONDO_0002408"], "name": "Dubin-Johnson syndrome"} {"id": "MONDO_0009383", "parentIds": ["EFO_0001421", "MONDO_0002408"], "name": "transient familial neonatal hyperbilirubinemia"} -{"id": "MONDO_0009384", "parentIds": ["MONDO_0019155"], "name": "Leydig cell hypoplasia, type 1"} -{"id": "MONDO_0009387", "parentIds": ["MONDO_0037748", "MONDO_0018637", "MONDO_0001336"], "name": "familial lipoprotein lipase deficiency"} -{"id": "MONDO_0009388", "parentIds": ["MONDO_0017351", "MONDO_0004736"], "name": "hyperlysinemia"} +{"id": "MONDO_0009384", "parentIds": ["MONDO_0019155", "EFO_0000508"], "name": "Leydig cell hypoplasia, type 1"} +{"id": "MONDO_0009387", "parentIds": ["MONDO_0037748", "MONDO_0018637", "MONDO_0015905", "MONDO_0001336"], "name": "familial lipoprotein lipase deficiency"} +{"id": "MONDO_0009388", "parentIds": ["MONDO_0017351"], "name": "hyperlysinemia"} +{"id": "MONDO_0009392", "parentIds": ["EFO_0000508"], "name": "hyperopia, high"} {"id": "MONDO_0009393", "parentIds": ["MONDO_0800153"], "name": "ornithine translocase deficiency"} -{"id": "MONDO_0009394", "parentIds": ["EFO_0004261", "MONDO_0800084"], "name": "juvenile Paget disease"} -{"id": "MONDO_0009395", "parentIds": ["MONDO_0800084", "MONDO_0002185"], "name": "hyperostosis corticalis generalisata"} -{"id": "MONDO_0009397", "parentIds": ["MONDO_0016365", "MONDO_0023603", "EFO_0003820", "MONDO_0800096"], "name": "neonatal severe primary hyperparathyroidism"} +{"id": "MONDO_0009394", "parentIds": ["EFO_0004261"], "name": "juvenile Paget disease"} +{"id": "MONDO_0009395", "parentIds": ["MONDO_0002185", "MONDO_0018230"], "name": "hyperostosis corticalis generalisata"} +{"id": "MONDO_0009397", "parentIds": ["EFO_0003820", "MONDO_0800096", "MONDO_0023603", "MONDO_0016365"], "name": "neonatal severe primary hyperparathyroidism"} {"id": "MONDO_0009400", "parentIds": ["MONDO_0023419"], "name": "hyperprolinemia type 1"} {"id": "MONDO_0009401", "parentIds": ["MONDO_0023419"], "name": "hyperprolinemia type 2"} -{"id": "MONDO_0009402", "parentIds": ["MONDO_0015620", "MONDO_0015161", "MONDO_0008715"], "name": "acrofrontofacionasal dysostosis 2"} -{"id": "MONDO_0009404", "parentIds": ["MONDO_0015334", "MONDO_0015159", "EFO_1000017"], "name": "hypertelorism, microtia, facial clefting syndrome"} +{"id": "MONDO_0009402", "parentIds": ["MONDO_0015161", "MONDO_0008715"], "name": "acrofrontofacionasal dysostosis 2"} +{"id": "MONDO_0009403", "parentIds": ["EFO_0000508"], "name": "hypertelorism and tetralogy of fallot"} +{"id": "MONDO_0009404", "parentIds": ["MONDO_0015159", "EFO_1000017"], "name": "hypertelorism, microtia, facial clefting syndrome"} {"id": "MONDO_0009405", "parentIds": ["MONDO_0020022", "MONDO_0019280"], "name": "cervical hypertrichosis-peripheral neuropathy syndrome"} -{"id": "MONDO_0009406", "parentIds": ["EFO_0005571", "MONDO_0018454", "MONDO_0015160"], "name": "hypertrichotic osteochondrodysplasia Cantu type"} +{"id": "MONDO_0009406", "parentIds": ["EFO_0005571", "EFO_0000508", "MONDO_0015160"], "name": "hypertrichotic osteochondrodysplasia Cantu type"} {"id": "MONDO_0009411", "parentIds": ["EFO_0005539", "MONDO_0016165", "MONDO_0018242", "MONDO_0017278"], "name": "autoimmune polyendocrine syndrome type 1"} {"id": "MONDO_0009413", "parentIds": ["MONDO_0015517"], "name": "immunodeficiency, common variable, 2"} {"id": "MONDO_0009414", "parentIds": ["MONDO_0002412"], "name": "glycogen storage disorder due to hepatic glycogen synthase deficiency"} -{"id": "MONDO_0009416", "parentIds": ["MONDO_0019716", "EFO_0001379"], "name": "hypoinsulinemic hypoglycemia and body hemihypertrophy"} +{"id": "MONDO_0009416", "parentIds": ["MONDO_0019716", "EFO_0001379", "EFO_0000508"], "name": "hypoinsulinemic hypoglycemia and body hemihypertrophy"} {"id": "MONDO_0009417", "parentIds": ["OTAR_0000018"], "name": "hypergonadotropic hypogonadism-cataract syndrome"} {"id": "MONDO_0009419", "parentIds": ["MONDO_0044807", "MONDO_0018307", "MONDO_0015770"], "name": "Woodhouse-Sakati syndrome"} {"id": "MONDO_0009420", "parentIds": ["OTAR_0000018"], "name": "primary hypergonadotropic hypogonadism-partial alopecia syndrome"} -{"id": "MONDO_0009425", "parentIds": ["MONDO_0020018", "MONDO_0015160"], "name": "hypomandibular faciocranial dysostosis"} +{"id": "MONDO_0009425", "parentIds": ["MONDO_0015160"], "name": "hypomandibular faciocranial dysostosis"} {"id": "MONDO_0009426", "parentIds": ["MONDO_0800063", "MONDO_0015159", "EFO_1000017"], "name": "hypoparathyroidism-retardation-dysmorphism syndrome"} {"id": "MONDO_0009431", "parentIds": ["MONDO_0000044", "MONDO_0800096"], "name": "hereditary hypophosphatemic rickets with hypercalciuria"} -{"id": "MONDO_0009435", "parentIds": ["MONDO_0015620", "MONDO_0015159"], "name": "hypospadias-intellectual disability, Goldblatt type syndrome"} +{"id": "MONDO_0009433", "parentIds": ["MONDO_0004933"], "name": "hypoplastic left heart syndrome 1"} +{"id": "MONDO_0009435", "parentIds": ["MONDO_0015159"], "name": "hypospadias-intellectual disability, Goldblatt type syndrome"} {"id": "MONDO_0009436", "parentIds": ["MONDO_0007804"], "name": "congenital hypothalamic hamartoma syndrome"} -{"id": "MONDO_0009437", "parentIds": ["MONDO_0015778"], "name": "Bamforth-Lazarus syndrome"} +{"id": "MONDO_0009437", "parentIds": ["EFO_0000508", "EFO_0001379"], "name": "Bamforth-Lazarus syndrome"} {"id": "MONDO_0009440", "parentIds": ["MONDO_0018781"], "name": "ichthyosiform erythroderma, corneal 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"MONDO_0009499", "parentIds": ["MONDO_0004884", "MONDO_0019046", "MONDO_0020127", "MONDO_0019255"], "name": "Krabbe disease"} -{"id": "MONDO_0009501", "parentIds": ["MONDO_0020123"], "name": "metabolic myopathy due to lactate transporter defect"} +{"id": "MONDO_0009501", "parentIds": ["MONDO_0020123", "MONDO_0700223"], "name": "metabolic myopathy due to lactate transporter defect"} {"id": "MONDO_0009502", "parentIds": ["MONDO_0019169"], "name": "pyruvate dehydrogenase E2 deficiency"} {"id": "MONDO_0009503", "parentIds": ["MONDO_0019169"], "name": "pyruvate dehydrogenase E3-binding protein deficiency"} {"id": "MONDO_0009504", "parentIds": ["MONDO_0016796", "EFO_1000036"], "name": "mitochondrial DNA depletion syndrome 9"} {"id": "MONDO_0009505", "parentIds": ["MONDO_0017688"], "name": "lactic aciduria due to D-lactic acid"} -{"id": "MONDO_0009506", "parentIds": ["MONDO_0015978"], "name": "specific granule deficiency"} -{"id": "MONDO_0009507", "parentIds": ["MONDO_0015334", "MONDO_0015159"], "name": "Lambert syndrome"} -{"id": "MONDO_0009511", "parentIds": ["EFO_0003777", "MONDO_0017742", "MONDO_0018292", "MONDO_0800086"], "name": "Larsen-like syndrome, B3GAT3 type"} +{"id": "MONDO_0009506", "parentIds": ["EFO_0000508", "MONDO_0015978"], "name": "specific granule deficiency"} +{"id": "MONDO_0009507", "parentIds": ["MONDO_0015159"], "name": "Lambert syndrome"} +{"id": "MONDO_0009511", "parentIds": ["MONDO_0015327", "MONDO_0100547", "MONDO_0015286", "MONDO_0018230"], "name": "Larsen-like syndrome, B3GAT3 type"} {"id": "MONDO_0009512", "parentIds": ["MONDO_0019755"], "name": "lethal Larsen-like syndrome"} -{"id": "MONDO_0009513", "parentIds": ["MONDO_0015222", "MONDO_0017612", "MONDO_0015930"], "name": "laryngo-onycho-cutaneous syndrome"} -{"id": "MONDO_0009514", "parentIds": ["EFO_1000017", "MONDO_0015327", "MONDO_0020240", "MONDO_0015159", "MONDO_0002320", "MONDO_0015770"], "name": "Laurence-Moon syndrome"} +{"id": "MONDO_0009513", "parentIds": ["MONDO_0017612", "EFO_0000684"], "name": "laryngo-onycho-cutaneous syndrome"} +{"id": "MONDO_0009514", "parentIds": ["EFO_1000017", "MONDO_0015159", "MONDO_0015770"], "name": "Laurence-Moon syndrome"} {"id": "MONDO_0009515", "parentIds": ["MONDO_0018999", "MONDO_0001822"], "name": "Norum disease"} -{"id": "MONDO_0009516", "parentIds": ["MONDO_0019054", "MONDO_0018454"], "name": "absence deformity of leg-cataract syndrome"} +{"id": "MONDO_0009516", "parentIds": ["MONDO_0019054", "EFO_0000508", "MONDO_0018234"], "name": "absence deformity of leg-cataract syndrome"} {"id": "MONDO_0009517", "parentIds": ["MONDO_0015161", "EFO_1000017"], "name": "Donohue syndrome"} {"id": "MONDO_0009520", "parentIds": ["MONDO_0019215", "MONDO_0017713"], "name": "3-hydroxy-3-methylglutaric aciduria"} {"id": "MONDO_0009522", "parentIds": ["MONDO_0019287"], "name": "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome"} {"id": "MONDO_0009523", "parentIds": ["MONDO_0015134"], "name": "Lichtenstein syndrome"} {"id": "MONDO_0009524", "parentIds": ["MONDO_0018234", "MONDO_0019054", "MONDO_0015159"], "name": "intellectual disability-spasticity-ectrodactyly syndrome"} -{"id": "MONDO_0009525", "parentIds": ["MONDO_0800090", "MONDO_0015160", "MONDO_0016961", "MONDO_0016576"], "name": "split hand-foot malformation 3"} +{"id": "MONDO_0009525", "parentIds": ["MONDO_0015160", "MONDO_0016961", "MONDO_0016576"], "name": "split hand-foot malformation 3"} {"id": "MONDO_0009528", "parentIds": ["MONDO_0017774"], "name": "chylomicron retention disease"} -{"id": "MONDO_0009529", "parentIds": ["MONDO_0019213", "MONDO_0009563", "MONDO_0018424", "MONDO_0019169"], "name": "pyruvate dehydrogenase E3 deficiency"} +{"id": "MONDO_0009529", "parentIds": ["MONDO_0009563", "MONDO_0018424", "MONDO_0019169"], "name": "pyruvate dehydrogenase E3 deficiency"} {"id": "MONDO_0009530", "parentIds": ["MONDO_0100118", "MONDO_0021154", "MONDO_0002525"], "name": "lipoid proteinosis"} {"id": "MONDO_0009532", "parentIds": ["MONDO_0015146", "MONDO_0022754"], "name": "Miller-Dieker lissencephaly syndrome"} -{"id": "MONDO_0009533", "parentIds": ["MONDO_0019520", "MONDO_0019287", "MONDO_0009332", "MONDO_0015161", "MONDO_0019313"], "name": "Dahlberg-Borer-Newcomer syndrome"} +{"id": "MONDO_0009533", "parentIds": ["MONDO_0019287", "MONDO_0015161", "MONDO_0019313"], "name": "Dahlberg-Borer-Newcomer syndrome"} {"id": "MONDO_0009543", "parentIds": ["MONDO_0015159"], "name": "prominent glabella-microcephaly-hypogenitalism syndrome"} {"id": "MONDO_0009544", "parentIds": ["MONDO_0016608"], "name": "macrocephaly/megalencephaly syndrome, autosomal recessive"} {"id": "MONDO_0009547", "parentIds": ["MONDO_0015161"], "name": "macrosomia-microphthalmia-cleft palate syndrome"} {"id": "MONDO_0009548", "parentIds": ["MONDO_0020242", "MONDO_0017624"], "name": "renal hypomagnesemia 5 with ocular involvement"} {"id": "MONDO_0009549", "parentIds": ["MONDO_0019353", "MONDO_0800406"], "name": "severe early-childhood-onset retinal dystrophy"} -{"id": "MONDO_0009550", "parentIds": ["MONDO_0001567", "EFO_1000647", "MONDO_0017624"], "name": "renal hypomagnesemia 3"} -{"id": "MONDO_0009552", "parentIds": ["MONDO_0020096"], "name": "mal de Meleda"} +{"id": "MONDO_0009550", "parentIds": ["MONDO_0001567", "MONDO_0017624", "EFO_1000647"], "name": "renal hypomagnesemia 3"} +{"id": "MONDO_0009552", "parentIds": ["MONDO_0017666"], "name": "mal de Meleda"} {"id": "MONDO_0009556", "parentIds": ["MONDO_0000688"], "name": "malonic aciduria"} {"id": "MONDO_0009557", "parentIds": ["MONDO_0016584", "MONDO_0021106"], "name": "mandibuloacral dysplasia with type A lipodystrophy"} {"id": "MONDO_0009559", "parentIds": ["EFO_0000508"], "name": "mandibulofacial dysostosis with mental deficiency"} -{"id": "MONDO_0009560", "parentIds": ["MONDO_0015160"], "name": "oculotrichoanal syndrome"} +{"id": "MONDO_0009560", "parentIds": ["EFO_0000508", "MONDO_0015160"], "name": "oculotrichoanal syndrome"} {"id": "MONDO_0009561", "parentIds": ["MONDO_0800088", "EFO_0003966", "MONDO_0019251"], "name": "alpha-mannosidosis"} -{"id": "MONDO_0009562", "parentIds": ["MONDO_0020127", "MONDO_0800088", "MONDO_0019251"], "name": "beta-mannosidosis"} +{"id": "MONDO_0009562", "parentIds": ["MONDO_0019251", "MONDO_0020127", "MONDO_0800088"], "name": "beta-mannosidosis"} {"id": "MONDO_0009563", "parentIds": ["MONDO_0000688", "MONDO_0019242"], "name": "maple syrup urine disease"} {"id": "MONDO_0009564", "parentIds": ["MONDO_0015168", "MONDO_0015159", "EFO_0003900"], "name": "Marden-Walker syndrome"} {"id": "MONDO_0009565", "parentIds": ["MONDO_0015159"], "name": "microcephaly-glomerulonephritis-marfanoid habitus syndrome"} {"id": "MONDO_0009566", "parentIds": ["MONDO_0015159"], "name": "marfanoid habitus-autosomal recessive intellectual disability syndrome"} -{"id": "MONDO_0009567", "parentIds": ["MONDO_0020046", "MONDO_0020165"], "name": "Marinesco-Sjogren syndrome"} -{"id": "MONDO_0009568", "parentIds": ["MONDO_0017915"], "name": "mast syndrome"} +{"id": "MONDO_0009567", "parentIds": ["MONDO_0020046"], "name": "Marinesco-Sjogren syndrome"} +{"id": "MONDO_0009568", "parentIds": ["MONDO_0019064"], "name": "mast syndrome"} {"id": "MONDO_0009569", "parentIds": ["MONDO_0015160"], "name": "Hennekam-Beemer syndrome"} {"id": "MONDO_0009570", "parentIds": ["MONDO_0015159"], "name": "McDonough syndrome"} +{"id": "MONDO_0009572", "parentIds": ["MONDO_0018088", "EFO_1000017"], "name": "autosomal recessive familial Mediterranean fever"} {"id": "MONDO_0009575", "parentIds": ["MONDO_0020112", "MONDO_0000152", "EFO_1000017"], "name": "thiamine-responsive megaloblastic anemia syndrome"} {"id": "MONDO_0009576", "parentIds": ["EFO_0000508", "EFO_0009464"], "name": "megalocornea"} {"id": "MONDO_0009577", "parentIds": ["EFO_0003966"], "name": "megalocornea-intellectual disability syndrome"} -{"id": "MONDO_0009578", "parentIds": ["EFO_0009675", "MONDO_0042983", "MONDO_0016756", "MONDO_0000648"], "name": "neurocutaneous melanocytosis"} +{"id": "MONDO_0009578", "parentIds": ["EFO_0009675", "MONDO_0042983", "MONDO_0100545", "MONDO_0100118", "MONDO_0000648"], "name": "neurocutaneous melanocytosis"} {"id": "MONDO_0009579", "parentIds": ["MONDO_0019690"], "name": "Frank-Ter Haar syndrome"} {"id": "MONDO_0009580", "parentIds": ["MONDO_0019502"], "name": "intellectual disability, autosomal recessive 1"} {"id": "MONDO_0009581", "parentIds": ["MONDO_0015159"], "name": "intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"} -{"id": "MONDO_0009582", "parentIds": ["MONDO_0020215", "MONDO_0015160"], "name": "Mietens syndrome"} +{"id": "MONDO_0009582", "parentIds": ["MONDO_0015160", "MONDO_0024458"], "name": "Mietens syndrome"} {"id": "MONDO_0009583", "parentIds": ["MONDO_0000734"], "name": "blepharophimosis - intellectual disability syndrome, Ohdo type"} {"id": "MONDO_0009584", "parentIds": ["MONDO_0015159", "MONDO_0002320", "MONDO_0000508"], "name": "intellectual disability, 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["MONDO_0800080", "MONDO_0016763", "MONDO_0040566"], "name": "spondylometaphyseal dysplasia, Sedaghatian type"} -{"id": "MONDO_0009594", "parentIds": ["MONDO_0019693"], "name": "metaphyseal chondrodysplasia, Kaitila type"} -{"id": "MONDO_0009595", "parentIds": ["MONDO_0019693", "EFO_1000017", "MONDO_0015708", "MONDO_0019287"], "name": "cartilage-hair hypoplasia"} -{"id": "MONDO_0009597", "parentIds": ["MONDO_0019693"], "name": "metaphyseal chondrodysplasia, Spahr type"} -{"id": "MONDO_0009598", "parentIds": ["MONDO_0019693"], "name": "metaphyseal chondrodysplasia-retinitis pigmentosa syndrome"} -{"id": "MONDO_0009599", "parentIds": ["MONDO_0019693"], "name": "metaphyseal dysostosis-intellectual disability-conductive deafness syndrome"} +{"id": "MONDO_0009594", "parentIds": ["MONDO_0018230", "EFO_0005571"], "name": "metaphyseal chondrodysplasia, Kaitila type"} +{"id": "MONDO_0009595", "parentIds": ["EFO_1000017", "EFO_0002461", "MONDO_0015708", "MONDO_0019287"], "name": "cartilage-hair 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"parentIds": ["MONDO_0017129"], "name": "familial atrial myxoma"} +{"id": "MONDO_0009717", "parentIds": ["MONDO_0016151", "MONDO_0016761", "EFO_1000017"], "name": "Schwartz-Jampel syndrome"} +{"id": "MONDO_0009719", "parentIds": ["MONDO_0100547", "EFO_1001339"], "name": "familial atrial myxoma"} {"id": "MONDO_0009720", "parentIds": ["MONDO_0015161"], "name": "Keipert syndrome"} {"id": "MONDO_0009721", "parentIds": ["OTAR_0000018"], "name": "Nathalie syndrome"} -{"id": "MONDO_0009722", "parentIds": ["MONDO_0019952", "MONDO_0002320"], "name": "Bailey-Bloch congenital myopathy"} +{"id": "MONDO_0009722", "parentIds": ["MONDO_0100545", "MONDO_0019952", "MONDO_0002320"], "name": "Bailey-Bloch congenital myopathy"} {"id": "MONDO_0009723", "parentIds": ["MONDO_0016387", "MONDO_0020127"], "name": "Leigh syndrome"} {"id": "MONDO_0009724", "parentIds": ["EFO_0003086"], "name": "nail-patella-like renal disease"} -{"id": "MONDO_0009726", "parentIds": ["MONDO_0023603", "MONDO_0018782", 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"name": "ichthyosis-oral and digital anomalies syndrome"} +{"id": "MONDO_0009792", "parentIds": ["MONDO_0015161", "MONDO_0015947"], "name": "ichthyosis-oral and digital anomalies syndrome"} {"id": "MONDO_0009793", "parentIds": ["MONDO_0015375"], "name": "orofaciodigital syndrome III"} {"id": "MONDO_0009794", "parentIds": ["MONDO_0019691", "MONDO_0015929", "MONDO_0015375"], "name": "orofaciodigital syndrome IV"} {"id": "MONDO_0009795", "parentIds": ["MONDO_0015375"], "name": "orofaciodigital syndrome IX"} {"id": "MONDO_0009796", "parentIds": ["MONDO_0043218", "MONDO_0020127", "MONDO_0019118", "MONDO_0001898", "MONDO_0017356"], "name": "ornithine aminotransferase deficiency"} {"id": "MONDO_0009797", "parentIds": ["MONDO_0019238", "MONDO_0020112"], "name": "orotic aciduria"} -{"id": "MONDO_0009798", "parentIds": ["OTAR_0000018"], "name": "Primrose syndrome"} -{"id": "MONDO_0009801", "parentIds": ["MONDO_0018454"], "name": "familial osteodysplasia, Anderson type"} +{"id": "MONDO_0009798", 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sensorineural deafness, and Fanconi-type renal dysfunction"} {"id": "MONDO_0010001", "parentIds": ["MONDO_0019287", "EFO_0003966"], "name": "ectodermal dysplasia-blindness syndrome"} -{"id": "MONDO_0010002", "parentIds": ["MONDO_0015951", "MONDO_0015356", "MONDO_0100137"], "name": "Rothmund-Thomson syndrome"} -{"id": "MONDO_0010004", "parentIds": ["MONDO_0020197", "MONDO_0018454", "MONDO_0000426", "MONDO_0020160", "MONDO_0019054"], "name": "EEC syndrome"} +{"id": "MONDO_0010002", "parentIds": ["MONDO_0100137", "MONDO_0015356", "MONDO_0015951"], "name": "Rothmund-Thomson syndrome"} +{"id": "MONDO_0010004", "parentIds": ["MONDO_0018234", "MONDO_0000426", "MONDO_0024458", "MONDO_0019054"], "name": "EEC syndrome"} {"id": "MONDO_0010005", "parentIds": ["MONDO_0017351"], "name": "saccharopinuria"} {"id": "MONDO_0010006", "parentIds": ["MONDO_0020127", "MONDO_0020143", "MONDO_0017720", "MONDO_0004884"], "name": "Sandhoff disease"} {"id": "MONDO_0010007", "parentIds": ["MONDO_0015159"], "name": "microbrachycephaly-ptosis-cleft lip syndrome"} {"id": "MONDO_0010008", "parentIds": ["MONDO_0019239", "MONDO_0045020", "MONDO_0100477"], "name": "sarcosinemia"} -{"id": "MONDO_0010010", "parentIds": ["MONDO_0000508", "MONDO_0002320", "MONDO_0019287", "MONDO_0015160"], "name": "Schinzel-Giedion syndrome"} +{"id": "MONDO_0010010", "parentIds": ["MONDO_0000508", "MONDO_0015160", "MONDO_0019287", "MONDO_0002320", "MONDO_0100545"], "name": "Schinzel-Giedion syndrome"} {"id": "MONDO_0010011", "parentIds": ["MONDO_0017103", "MONDO_0002320"], "name": "schizencephaly"} -{"id": "MONDO_0010013", "parentIds": ["EFO_0005571", "MONDO_0018292", "MONDO_0800080", "MONDO_0017744"], "name": "schneckenbecken dysplasia"} -{"id": "MONDO_0010014", "parentIds": ["MONDO_0800084"], "name": "craniometadiaphyseal dysplasia, wormian bone type"} +{"id": "MONDO_0010013", "parentIds": ["EFO_0005571", "MONDO_0015286", "MONDO_0800080"], "name": "schneckenbecken dysplasia"} +{"id": "MONDO_0010014", "parentIds": ["MONDO_0018230"], "name": "craniometadiaphyseal dysplasia, wormian bone type"} {"id": "MONDO_0010015", "parentIds": ["MONDO_0019629", "MONDO_0019503"], "name": "anterior segment dysgenesis 7"} +{"id": "MONDO_0010016", "parentIds": ["MONDO_0017838"], "name": "sclerosteosis 1"} {"id": "MONDO_0010017", "parentIds": ["MONDO_0015531", "MONDO_0015905", "MONDO_0019255"], "name": "sea-blue histiocyte syndrome"} -{"id": "MONDO_0010023", "parentIds": ["MONDO_0021094"], "name": "combined immunodeficiency due to ZAP70 deficiency"} +{"id": "MONDO_0010020", "parentIds": ["EFO_1000681", "MONDO_0018883"], "name": "congenital generalized lipodystrophy type 2"} +{"id": "MONDO_0010023", "parentIds": ["MONDO_0015131"], "name": "combined immunodeficiency due to ZAP70 deficiency"} {"id": "MONDO_0010024", "parentIds": ["MONDO_0018770"], "name": "Beemer-Langer syndrome"} -{"id": "MONDO_0010026", "parentIds": ["MONDO_0020087", "MONDO_0015161", "MONDO_0020210", "MONDO_0015160", "MONDO_0015327"], "name": "SHORT syndrome"} +{"id": "MONDO_0010026", "parentIds": ["MONDO_0015160", "MONDO_0020087", "EFO_0003966", "MONDO_0015327", "MONDO_0015161"], "name": "SHORT syndrome"} {"id": "MONDO_0010027", "parentIds": ["MONDO_0019366", "MONDO_0800088", "MONDO_0017706"], "name": "free sialic acid storage disease, infantile form"} {"id": "MONDO_0010028", "parentIds": ["MONDO_0017736", "MONDO_0019366"], "name": "sialuria"} {"id": "MONDO_0010029", "parentIds": ["MONDO_0018677"], "name": "situs inversus"} -{"id": "MONDO_0010031", "parentIds": ["MONDO_0017270", "MONDO_0018117", "EFO_1000017", "MONDO_0019046", "MONDO_0004884", "MONDO_0015905"], "name": "Sjogren-Larsson syndrome"} +{"id": "MONDO_0010031", "parentIds": ["MONDO_0018117", "EFO_1000017", "EFO_0010285", "MONDO_0019046", "MONDO_0004884", "MONDO_0015905"], "name": "Sjogren-Larsson syndrome"} {"id": "MONDO_0010033", "parentIds": ["MONDO_0019347"], "name": "generalized peeling skin syndrome"} -{"id": "MONDO_0010035", "parentIds": ["MONDO_0045017", "MONDO_0020165", "MONDO_0020158", "MONDO_0015159", "MONDO_0015905"], "name": "Smith-Lemli-Opitz syndrome"} -{"id": "MONDO_0010038", "parentIds": ["MONDO_0015892"], "name": "growth delay due to insulin-like growth factor I resistance"} +{"id": "MONDO_0010035", "parentIds": ["MONDO_0045017", "EFO_0003966", "MONDO_0015159", "MONDO_0015905"], "name": "Smith-Lemli-Opitz syndrome"} +{"id": "MONDO_0010038", "parentIds": ["MONDO_0015892", "EFO_0000508"], "name": "growth delay due to insulin-like growth factor I resistance"} {"id": "MONDO_0010039", "parentIds": ["MONDO_0015159"], "name": "congenital heart defect-round face-developmental delay syndrome"} +{"id": "MONDO_0010040", "parentIds": ["EFO_0000508"], "name": "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability"} {"id": "MONDO_0010041", "parentIds": ["MONDO_0015244", "MONDO_0017847"], "name": "Charlevoix-Saguenay spastic ataxia"} {"id": "MONDO_0010043", "parentIds": ["MONDO_0015087", "MONDO_0015362"], "name": "hereditary spastic paraplegia 17"} -{"id": "MONDO_0010044", "parentIds": ["MONDO_0015089"], "name": "hereditary spastic paraplegia 15"} -{"id": "MONDO_0010046", "parentIds": ["MONDO_0015089"], "name": "hereditary spastic paraplegia 23"} -{"id": "MONDO_0010047", "parentIds": ["MONDO_0017915"], "name": "hereditary spastic paraplegia 5A"} -{"id": "MONDO_0010049", "parentIds": ["MONDO_0015089"], "name": "spastic paraplegia-glaucoma-intellectual disability syndrome"} -{"id": "MONDO_0010051", "parentIds": ["MONDO_0020240"], "name": "spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"} +{"id": "MONDO_0010044", "parentIds": ["MONDO_0015150"], "name": "hereditary spastic paraplegia 15"} +{"id": "MONDO_0010046", "parentIds": ["MONDO_0015150"], "name": "hereditary spastic paraplegia 23"} +{"id": "MONDO_0010047", "parentIds": ["MONDO_0019064"], "name": "hereditary spastic paraplegia 5A"} +{"id": "MONDO_0010049", "parentIds": ["MONDO_0015150"], "name": "spastic paraplegia-glaucoma-intellectual disability syndrome"} +{"id": "MONDO_0010051", "parentIds": ["EFO_0000508"], "name": "spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"} +{"id": "MONDO_0010053", "parentIds": ["MONDO_0019350"], "name": "hereditary spherocytosis type 3"} {"id": "MONDO_0010056", "parentIds": ["MONDO_0019079"], "name": "spinal muscular atrophy, type IV"} {"id": "MONDO_0010060", "parentIds": ["MONDO_0100512", "MONDO_0020046"], "name": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"} {"id": "MONDO_0010061", "parentIds": ["MONDO_0020047"], "name": "autosomal recessive cerebellar ataxia-blindness-deafness syndrome"} {"id": "MONDO_0010062", "parentIds": ["EFO_0009671"], "name": "spinocerebellar ataxia-dysmorphism syndrome"} -{"id": "MONDO_0010063", "parentIds": ["MONDO_0020215", "MONDO_0004884"], "name": "corneal-cerebellar syndrome"} -{"id": "MONDO_0010064", "parentIds": ["MONDO_0017847", "MONDO_0020215"], "name": "spastic ataxia-corneal dystrophy syndrome"} -{"id": "MONDO_0010066", "parentIds": ["MONDO_0015213", "MONDO_0015135"], "name": "familial isolated congenital asplenia"} +{"id": "MONDO_0010063", "parentIds": ["MONDO_0004884"], "name": "corneal-cerebellar syndrome"} +{"id": "MONDO_0010064", "parentIds": ["MONDO_0024458", "MONDO_0017847"], "name": "spastic ataxia-corneal dystrophy syndrome"} +{"id": "MONDO_0010066", "parentIds": ["MONDO_0003778"], "name": "familial isolated congenital asplenia"} {"id": "MONDO_0010068", "parentIds": ["MONDO_0100510"], "name": "spondyloepimetaphyseal dysplasia, sponastrime type"} -{"id": "MONDO_0010069", "parentIds": ["MONDO_0015246", "MONDO_0018454", "MONDO_0015620", "MONDO_0015846"], "name": "spondylocostal dysostosis-anal and genitourinary malformations syndrome"} +{"id": "MONDO_0010069", "parentIds": ["MONDO_0018234", "EFO_0000512", "EFO_0000508"], "name": "spondylocostal dysostosis-anal and genitourinary malformations syndrome"} {"id": "MONDO_0010070", "parentIds": ["MONDO_0018662"], "name": "brachyolmia type 1, Hobaek type"} +{"id": "MONDO_0010072", "parentIds": ["MONDO_0019667", "EFO_1000017"], "name": "spondyloepiphyseal dysplasia tarda, autosomal recessive"} {"id": "MONDO_0010073", "parentIds": ["MONDO_0019667"], "name": "spondyloepiphyseal dysplasia tarda, Kohn type"} {"id": "MONDO_0010074", "parentIds": ["MONDO_0018662"], "name": "brachyolmia type 1, toledo type"} -{"id": "MONDO_0010075", "parentIds": ["MONDO_0019675", "MONDO_0800086"], "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"} +{"id": "MONDO_0010075", "parentIds": ["MONDO_0019675"], "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"} {"id": "MONDO_0010076", "parentIds": ["MONDO_0100510"], "name": "spondyloepimetaphyseal dysplasia, Irapa type"} {"id": "MONDO_0010077", "parentIds": ["MONDO_0100510"], "name": "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"} {"id": "MONDO_0010078", "parentIds": ["MONDO_0016761", "MONDO_0022800"], "name": "spondyloperipheral dysplasia"} {"id": "MONDO_0010079", "parentIds": ["MONDO_0017686", "MONDO_0019046"], "name": "Canavan disease"} {"id": "MONDO_0010080", "parentIds": ["MONDO_0015518", "MONDO_0003122"], "name": "familial infantile bilateral striatal necrosis"} -{"id": "MONDO_0010082", "parentIds": ["MONDO_0020215"], "name": "subaortic stenosis-short stature syndrome"} +{"id": "MONDO_0010082", "parentIds": ["OTAR_0000018"], "name": "subaortic stenosis-short stature syndrome"} {"id": "MONDO_0010083", "parentIds": ["MONDO_0000698"], "name": "succinic semialdehyde dehydrogenase deficiency"} -{"id": "MONDO_0010088", "parentIds": ["MONDO_0019255", "MONDO_0800088", "MONDO_0017270", "MONDO_0015905", "MONDO_0015327"], "name": "mucosulfatidosis"} +{"id": "MONDO_0010088", "parentIds": ["MONDO_0015327", "MONDO_0019255", "EFO_0010285", "MONDO_0800088"], "name": "mucosulfatidosis"} {"id": "MONDO_0010089", "parentIds": ["MONDO_0019358"], "name": "isolated sulfite oxidase deficiency"} {"id": "MONDO_0010090", "parentIds": ["MONDO_0015338"], "name": "Summitt syndrome"} {"id": "MONDO_0010091", "parentIds": ["MONDO_0015526"], "name": "Cold-induced sweating syndrome 1"} @@ -4433,61 +6038,63 @@ {"id": "MONDO_0010098", "parentIds": ["EFO_1001216", "EFO_0000508"], "name": "taurodontism"} {"id": "MONDO_0010099", "parentIds": ["MONDO_0017720"], "name": "Tay-Sachs disease AB variant"} {"id": "MONDO_0010100", "parentIds": ["MONDO_0020143", "MONDO_0004884", "MONDO_0017720", "MONDO_0020127"], "name": "Tay-Sachs disease"} -{"id": "MONDO_0010101", "parentIds": ["MONDO_0018454", "MONDO_0019287"], "name": "Teebi-Shaltout syndrome"} +{"id": "MONDO_0010101", "parentIds": ["EFO_0002461", "MONDO_0019287"], "name": "Teebi-Shaltout syndrome"} {"id": "MONDO_0010102", "parentIds": ["MONDO_0019287"], "name": "taurodontia-absent teeth-sparse hair syndrome"} {"id": "MONDO_0010104", "parentIds": ["OTAR_0000018"], "name": "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome"} -{"id": "MONDO_0010110", "parentIds": ["MONDO_0015161", "MONDO_0018454", "MONDO_0019054"], "name": "tetraamelia-multiple malformations syndrome"} -{"id": "MONDO_0010111", "parentIds": ["MONDO_0009263"], "name": "odontotrichomelic syndrome"} +{"id": "MONDO_0010110", "parentIds": ["EFO_0000508", "MONDO_0015161", "MONDO_0018234", "MONDO_0019054"], "name": "tetraamelia-multiple malformations syndrome"} +{"id": "MONDO_0010111", "parentIds": ["MONDO_0019287"], "name": "odontotrichomelic syndrome"} {"id": "MONDO_0010116", "parentIds": ["MONDO_0015929", "MONDO_0019691"], "name": "thoracomelic dysplasia"} -{"id": "MONDO_0010120", "parentIds": ["MONDO_0015679"], "name": "thrombocytopenia 3"} -{"id": "MONDO_0010121", "parentIds": ["MONDO_0009332", "MONDO_0018795", "MONDO_0019713"], "name": "thrombocytopenia-absent radius syndrome"} +{"id": "MONDO_0010120", "parentIds": ["MONDO_0100241"], "name": "thrombocytopenia 3"} +{"id": "MONDO_0010121", "parentIds": ["MONDO_0009332", "MONDO_0019054", "MONDO_0018234", "MONDO_0018795", "MONDO_0019713"], "name": "thrombocytopenia-absent radius syndrome"} {"id": "MONDO_0010122", "parentIds": ["MONDO_0021181", "MONDO_0000009", "MONDO_0018896", "MONDO_0100241", "MONDO_0009332"], "name": "congenital thrombotic thrombocytopenic purpura"} -{"id": "MONDO_0010123", "parentIds": ["MONDO_0015823"], "name": "absent thumb-short stature-immunodeficiency syndrome"} {"id": "MONDO_0010125", "parentIds": ["MONDO_0015159"], "name": "upper limb defect-eye and ear abnormalities syndrome"} {"id": "MONDO_0010127", "parentIds": ["EFO_1000581", "EFO_0000508"], "name": "thymoma, familial"} {"id": "MONDO_0010128", "parentIds": ["OTAR_0000018"], "name": "thyrocerebrorenal syndrome"} {"id": "MONDO_0010129", "parentIds": ["MONDO_0015161"], "name": "thymic-renal-anal-lung dysplasia"} -{"id": "MONDO_0010130", "parentIds": ["MONDO_0019238", "MONDO_0018385"], "name": "dihydropyrimidine dehydrogenase deficiency"} -{"id": "MONDO_0010132", "parentIds": ["MONDO_0016409", "EFO_0000589"], "name": "familial thyroid dyshormonogenesis"} -{"id": "MONDO_0010134", "parentIds": ["EFO_1000017", "MONDO_0015778"], "name": "Pendred syndrome"} +{"id": "MONDO_0010130", "parentIds": ["MONDO_0019238", "MONDO_0018383"], "name": "dihydropyrimidine dehydrogenase deficiency"} +{"id": "MONDO_0010132", "parentIds": ["EFO_0000589", "MONDO_0018612"], "name": "familial thyroid dyshormonogenesis"} +{"id": "MONDO_0010134", "parentIds": ["EFO_1000017", "MONDO_0018612"], "name": "Pendred syndrome"} {"id": "MONDO_0010139", "parentIds": ["MONDO_0000045", "MONDO_0016410", "MONDO_0019824"], "name": "isolated thyroid-stimulating hormone deficiency"} -{"id": "MONDO_0010140", "parentIds": ["MONDO_0016410"], "name": "isolated thyrotropin-releasing hormone deficiency"} -{"id": "MONDO_0010142", "parentIds": ["MONDO_0016409", "MONDO_0000045"], "name": "hypothyroidism due to TSH receptor mutations"} +{"id": "MONDO_0010140", "parentIds": ["MONDO_0016410", "EFO_0000508"], "name": "isolated thyrotropin-releasing hormone deficiency"} +{"id": "MONDO_0010142", "parentIds": ["MONDO_0000045"], "name": "hypothyroidism due to TSH receptor mutations"} {"id": "MONDO_0010144", "parentIds": ["MONDO_0016240"], "name": "tibial hemimelia"} -{"id": "MONDO_0010149", "parentIds": ["MONDO_0015823", "MONDO_0016624", "MONDO_0019220", "MONDO_0000424"], "name": "transcobalamin II deficiency"} +{"id": "MONDO_0010149", "parentIds": ["EFO_0000540", "MONDO_0016624", "MONDO_0019220", "MONDO_0000424"], "name": "transcobalamin II deficiency"} {"id": "MONDO_0010152", "parentIds": ["MONDO_0019287"], "name": "trichomegaly-retina pigmentary degeneration-dwarfism syndrome"} {"id": "MONDO_0010153", "parentIds": ["MONDO_0019287"], "name": "trichoodontoonychial dysplasia"} {"id": "MONDO_0010154", "parentIds": ["MONDO_0015161"], "name": "trigonocephaly-bifid nose-acral anomalies syndrome"} {"id": "MONDO_0010155", "parentIds": ["MONDO_0015611"], "name": "Dorfman-Chanarin disease"} -{"id": "MONDO_0010156", "parentIds": ["MONDO_0015089"], "name": "Troyer syndrome"} -{"id": "MONDO_0010159", "parentIds": ["MONDO_0031219", "MONDO_0015356", "MONDO_0016756"], "name": "mismatch repair cancer syndrome 1"} +{"id": "MONDO_0010156", "parentIds": ["MONDO_0015150"], "name": "Troyer syndrome"} +{"id": "MONDO_0010158", "parentIds": ["EFO_0000508"], "name": "T-substance anomaly"} +{"id": "MONDO_0010159", "parentIds": ["MONDO_0031219", "MONDO_0015356", "MONDO_0100545"], "name": "mismatch repair cancer syndrome 1"} {"id": "MONDO_0010160", "parentIds": ["MONDO_0004741", "MONDO_0017672", "EFO_0003966"], "name": "tyrosinemia type II"} {"id": "MONDO_0010161", "parentIds": ["MONDO_0004741"], "name": "tyrosinemia type I"} {"id": "MONDO_0010162", "parentIds": ["MONDO_0004741"], "name": "tyrosinemia type III"} -{"id": "MONDO_0010164", "parentIds": ["MONDO_0019713"], "name": "phocomelia, Schinzel type"} -{"id": "MONDO_0010165", "parentIds": ["MONDO_0019054", "MONDO_0018454"], "name": "ulna hypoplasia-intellectual disability syndrome"} +{"id": "MONDO_0010164", "parentIds": ["MONDO_0019054", "MONDO_0018234", "MONDO_0019713"], "name": "phocomelia, Schinzel type"} +{"id": "MONDO_0010165", "parentIds": ["MONDO_0018234", "EFO_0000508", "MONDO_0019054"], "name": "ulna hypoplasia-intellectual disability syndrome"} {"id": "MONDO_0010167", "parentIds": ["MONDO_0019228"], "name": "urocanic aciduria"} {"id": "MONDO_0010168", "parentIds": ["MONDO_0019501"], "name": "Usher syndrome type 1"} {"id": "MONDO_0010169", "parentIds": ["MONDO_0016484"], "name": "Usher syndrome type 2A"} +{"id": "MONDO_0010170", "parentIds": ["MONDO_0016485"], "name": "Usher syndrome type 3A"} {"id": "MONDO_0010171", "parentIds": ["MONDO_0010168"], "name": "Usher syndrome type 1C"} -{"id": "MONDO_0010172", "parentIds": ["OTAR_0000018"], "name": "VACTERL with hydrocephalus"} +{"id": "MONDO_0010172", "parentIds": ["EFO_0000508"], "name": "VACTERL with hydrocephalus"} {"id": "MONDO_0010173", "parentIds": ["MONDO_0017771"], "name": "Mayer-Rokitansky-Kuster-Hauser syndrome type 1"} -{"id": "MONDO_0010176", "parentIds": ["MONDO_0013824", "MONDO_0020022", "MONDO_0015375"], "name": "orofaciodigital syndrome type 6"} +{"id": "MONDO_0010176", "parentIds": ["MONDO_0013824", "MONDO_0020022", "MONDO_0015375", "MONDO_0100545"], "name": "orofaciodigital syndrome type 6"} {"id": "MONDO_0010178", "parentIds": ["MONDO_0018801"], "name": "congenital bilateral aplasia of vas deferens from CFTR mutation"} -{"id": "MONDO_0010180", "parentIds": ["MONDO_0017747", "EFO_1000017", "MONDO_0000359", "MONDO_0018292"], "name": "autosomal recessive spondylocostal dysostosis"} -{"id": "MONDO_0010181", "parentIds": ["MONDO_0021189", "MONDO_0020158"], "name": "oculogastrointestinal muscular dystrophy"} +{"id": "MONDO_0010180", "parentIds": ["MONDO_0017747", "EFO_1000017", "MONDO_0000359"], "name": "autosomal recessive spondylocostal dysostosis"} +{"id": "MONDO_0010181", "parentIds": ["MONDO_0021189", "MONDO_0024458"], "name": "oculogastrointestinal muscular dystrophy"} {"id": "MONDO_0010183", "parentIds": ["MONDO_0016826"], "name": "methylmalonic aciduria and homocystinuria type cblF"} {"id": "MONDO_0010184", "parentIds": ["MONDO_0020127", "MONDO_0016826"], "name": "methylmalonic aciduria and homocystinuria type cblC"} {"id": "MONDO_0010185", "parentIds": ["MONDO_0100463", "MONDO_0016826"], "name": "methylmalonic aciduria and homocystinuria type cblD"} -{"id": "MONDO_0010187", "parentIds": ["MONDO_0017760", "MONDO_0015722"], "name": "vitamin K-dependent clotting factors, combined deficiency of, type 1"} -{"id": "MONDO_0010188", "parentIds": ["MONDO_0020127", "MONDO_0020044", "EFO_0005596", "MONDO_0017760"], "name": "familial isolated deficiency of vitamin E"} +{"id": "MONDO_0010187", "parentIds": ["MONDO_0015722"], "name": "vitamin K-dependent clotting factors, combined deficiency of, type 1"} +{"id": "MONDO_0010188", "parentIds": ["MONDO_0020127", "MONDO_0020044", "EFO_0005596"], "name": "familial isolated deficiency of vitamin E"} +{"id": "MONDO_0010190", "parentIds": ["MONDO_0016759"], "name": "pontocerebellar hypoplasia type 2A"} {"id": "MONDO_0010191", "parentIds": ["MONDO_0019565"], "name": "von Willebrand disease 3"} -{"id": "MONDO_0010193", "parentIds": ["MONDO_0019716", "MONDO_0015159", "MONDO_0800091"], "name": "Weaver syndrome"} -{"id": "MONDO_0010196", "parentIds": ["EFO_1000017", "MONDO_0015333"], "name": "Werner syndrome"} +{"id": "MONDO_0010192", "parentIds": ["MONDO_0019518"], "name": "Waardenburg syndrome type 4A"} +{"id": "MONDO_0010193", "parentIds": ["MONDO_0019716", "MONDO_0015159", "MONDO_0018230"], "name": "Weaver syndrome"} +{"id": "MONDO_0010196", "parentIds": ["MONDO_0015333", "EFO_1000017"], "name": "Werner syndrome"} {"id": "MONDO_0010199", "parentIds": ["MONDO_0015161", "EFO_0003777"], "name": "white forelock with malformations"} {"id": "MONDO_0010200", "parentIds": ["MONDO_0004689", "MONDO_0017762"], "name": "Wilson disease"} {"id": "MONDO_0010203", "parentIds": ["MONDO_0000508", "MONDO_0002320", "MONDO_0015159"], "name": "intellectual disability, Wolff type"} -{"id": "MONDO_0010204", "parentIds": ["MONDO_0015905", "MONDO_0019245"], "name": "lysosomal acid lipase deficiency"} {"id": "MONDO_0010207", "parentIds": ["OTAR_0000018"], "name": "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome"} {"id": "MONDO_0010208", "parentIds": ["MONDO_0018163"], "name": "wrinkly skin syndrome"} {"id": "MONDO_0010209", "parentIds": ["MONDO_0018106"], "name": "xanthinuria type I"} @@ -4496,19 +6103,20 @@ {"id": "MONDO_0010212", "parentIds": ["MONDO_0019600", "MONDO_0016354"], "name": "xeroderma pigmentosum group D"} {"id": "MONDO_0010213", "parentIds": ["MONDO_0019600"], "name": "xeroderma pigmentosum group E"} {"id": "MONDO_0010214", "parentIds": ["MONDO_0019600"], "name": "xeroderma pigmentosum variant type"} -{"id": "MONDO_0010215", "parentIds": ["MONDO_0019600", "MONDO_0016354"], "name": "xeroderma pigmentosum group F"} +{"id": "MONDO_0010215", "parentIds": ["MONDO_0016354", "MONDO_0019600"], "name": "xeroderma pigmentosum group F"} {"id": "MONDO_0010216", "parentIds": ["MONDO_0016354", "MONDO_0019600", "MONDO_0008926"], "name": "xeroderma pigmentosum group G"} {"id": "MONDO_0010217", "parentIds": ["EFO_0000508"], "name": "de Sanctis-Cacchione syndrome"} {"id": "MONDO_0010220", "parentIds": ["EFO_0000684"], "name": "Young syndrome"} -{"id": "MONDO_0010221", "parentIds": ["MONDO_0020145", "MONDO_0017748", "MONDO_0019287", "EFO_0003777", "MONDO_0015327", "MONDO_0015159", "MONDO_0015905"], "name": "CHIME syndrome"} +{"id": "MONDO_0010221", "parentIds": ["MONDO_0019287", "MONDO_0015905", "MONDO_0015327", "MONDO_0017748", "MONDO_0024458", "MONDO_0100547", "MONDO_0015159"], "name": "CHIME syndrome"} {"id": "MONDO_0010222", "parentIds": ["MONDO_0017138", "MONDO_0000425"], "name": "X-linked Opitz G/BBB syndrome"} -{"id": "MONDO_0010224", "parentIds": ["MONDO_0018496"], "name": "corpus callosum agenesis-abnormal genitalia syndrome"} +{"id": "MONDO_0010224", "parentIds": ["EFO_0000508"], "name": "corpus callosum agenesis-abnormal genitalia syndrome"} {"id": "MONDO_0010225", "parentIds": ["MONDO_0015612"], "name": "Dent disease type 1"} {"id": "MONDO_0010233", "parentIds": ["MONDO_0020341"], "name": "heterotopia, periventricular, X-linked dominant"} {"id": "MONDO_0010235", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability-psychosis-macroorchidism syndrome"} -{"id": "MONDO_0010237", "parentIds": ["MONDO_0020119", "MONDO_0002320", "MONDO_0015159", "MONDO_0015338"], "name": "X-linked intellectual disability-plagiocephaly syndrome"} +{"id": "MONDO_0010237", "parentIds": ["MONDO_0015159", "MONDO_0002320", "MONDO_0015338", "MONDO_0020119"], "name": "X-linked intellectual disability-plagiocephaly syndrome"} {"id": "MONDO_0010239", "parentIds": ["MONDO_0020491", "MONDO_0015146"], "name": 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"MONDO_0010292", "parentIds": ["EFO_0000508"], "name": "Uruguay Faciocardiomusculoskeletal syndrome"} -{"id": "MONDO_0010293", "parentIds": ["MONDO_0016535", "MONDO_0015823"], "name": "ectodermal dysplasia and immune deficiency"} +{"id": "MONDO_0010292", "parentIds": ["MONDO_0800462"], "name": "Uruguay Faciocardiomusculoskeletal syndrome"} +{"id": "MONDO_0010293", "parentIds": ["MONDO_0003778", "MONDO_0016535"], "name": "ectodermal dysplasia and immune deficiency"} {"id": "MONDO_0010294", "parentIds": ["MONDO_0018542", "MONDO_0000425"], "name": "X-linked severe congenital neutropenia"} -{"id": "MONDO_0010295", "parentIds": ["MONDO_0019520", "MONDO_0100162", "MONDO_0019287", "MONDO_0015823", "MONDO_0017198", "MONDO_0019313"], "name": "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"} +{"id": "MONDO_0010295", "parentIds": ["MONDO_0100162", "MONDO_0019287", "MONDO_0017198", "MONDO_0019313"], "name": "anhidrotic ectodermal 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"name": "X-linked non progressive cerebellar ataxia"} +{"id": "MONDO_0010406", "parentIds": ["MONDO_0019181"], "name": "chromosome Xp11.22 duplication syndrome"} {"id": "MONDO_0010407", "parentIds": ["MONDO_0020119"], "name": "intellectual disability, X-linked syndromic, Turner type"} -{"id": "MONDO_0010408", "parentIds": ["MONDO_0019054", "MONDO_0800066", "MONDO_0015246", "MONDO_0015161"], "name": "syndactyly-telecanthus-anogenital and renal malformations syndrome"} +{"id": "MONDO_0010408", "parentIds": ["MONDO_0019054", "MONDO_0800066", "MONDO_0015161"], "name": "syndactyly-telecanthus-anogenital and renal malformations syndrome"} {"id": "MONDO_0010409", "parentIds": ["MONDO_0020119"], "name": "syndromic X-linked intellectual disability Shrimpton type"} {"id": "MONDO_0010412", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability-craniofacioskeletal syndrome"} {"id": "MONDO_0010417", "parentIds": ["MONDO_0020119", "MONDO_0020022"], "name": "syndromic X-linked 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["MONDO_0020119"], "name": "intellectual disability, X-linked 99, syndromic, female-restricted"} {"id": "MONDO_0010504", "parentIds": ["MONDO_0003778"], "name": "immunodeficiency 47"} {"id": "MONDO_0010505", "parentIds": ["MONDO_0015159", "MONDO_0019695"], "name": "intellectual disability-balding-patella luxation-acromicria syndrome"} +{"id": "MONDO_0010507", "parentIds": ["MONDO_0017010"], "name": "Xq25 microduplication syndrome"} {"id": "MONDO_0010512", "parentIds": ["MONDO_0020119"], "name": "intellectual disability, X-linked, syndromic, Bain type"} -{"id": "MONDO_0010518", "parentIds": ["MONDO_0015356", "MONDO_0021181", "MONDO_0015131", "MONDO_0000425", "MONDO_0020118"], "name": "Wiskott-Aldrich syndrome"} -{"id": "MONDO_0010519", "parentIds": ["MONDO_0957025", "MONDO_0016980", "MONDO_0019050", "MONDO_0016513"], "name": "alpha thalassemia-X-linked intellectual disability syndrome"} +{"id": "MONDO_0010514", "parentIds": ["MONDO_0003778", "MONDO_0015131"], "name": "combined immunodeficiency due to moesin deficiency"} +{"id": "MONDO_0010518", "parentIds": ["MONDO_0015356", "MONDO_0021181", "MONDO_0015131", "MONDO_0000425"], "name": "Wiskott-Aldrich syndrome"} +{"id": "MONDO_0010519", "parentIds": ["MONDO_0020040", "MONDO_0016980"], "name": "alpha thalassemia-X-linked intellectual disability syndrome"} {"id": "MONDO_0010520", "parentIds": ["MONDO_0018965", "MONDO_0000425"], "name": "X-linked Alport syndrome"} -{"id": "MONDO_0010523", "parentIds": ["EFO_0000701", "MONDO_0020215", "MONDO_0018782"], "name": "X-linked reticulate pigmentary disorder"} -{"id": "MONDO_0010524", "parentIds": ["MONDO_0016803", "MONDO_0020099", "MONDO_0016612"], "name": "X-linked sideroblastic anemia with ataxia"} +{"id": "MONDO_0010523", "parentIds": ["MONDO_0957408", "MONDO_0100118", "MONDO_0023603"], "name": "X-linked reticulate pigmentary disorder"} +{"id": "MONDO_0010524", "parentIds": ["MONDO_0044970", "MONDO_0020099", "MONDO_0016612"], "name": "X-linked sideroblastic anemia with ataxia"} {"id": "MONDO_0010526", "parentIds": ["MONDO_0019255", "MONDO_0015327"], "name": "Fabry disease"} {"id": "MONDO_0010529", "parentIds": ["MONDO_0016612"], "name": "X-linked spinocerebellar ataxia type 3"} {"id": "MONDO_0010531", "parentIds": ["MONDO_0019287"], "name": "contractures-ectodermal dysplasia-cleft lip/palate syndrome"} -{"id": "MONDO_0010532", "parentIds": ["MONDO_0015168", "MONDO_0024257", "MONDO_0002320", "EFO_0008525"], "name": "infantile-onset X-linked spinal muscular atrophy"} -{"id": "MONDO_0010533", "parentIds": ["OTAR_0000018"], "name": "Arts syndrome"} +{"id": "MONDO_0010532", "parentIds": ["EFO_0008525", "MONDO_0002320", "MONDO_0015168", "MONDO_0024257"], "name": "infantile-onset X-linked spinal muscular atrophy"} +{"id": "MONDO_0010533", "parentIds": ["EFO_0000508"], "name": "Arts syndrome"} {"id": "MONDO_0010534", "parentIds": ["MONDO_0016612"], "name": "X-linked spinocerebellar ataxia type 4"} {"id": "MONDO_0010535", "parentIds": ["EFO_0000701"], "name": "Bazex-Dupre-Christol syndrome"} {"id": "MONDO_0010537", "parentIds": ["MONDO_0020119"], "name": "Borjeson-Forssman-Lehmann syndrome"} @@ -4642,69 +6269,77 @@ {"id": "MONDO_0010539", "parentIds": ["MONDO_0000425", "MONDO_0018751", "MONDO_0015483"], "name": "X-linked mandibulofacial dysostosis"} {"id": "MONDO_0010540", "parentIds": ["EFO_0000508"], "name": "bullous dystrophy, macular type"} {"id": "MONDO_0010541", "parentIds": ["MONDO_0002185"], "name": "X-linked calvarial hyperostosis"} -{"id": "MONDO_0010542", "parentIds": ["MONDO_0016147", "MONDO_0015470"], "name": "dilated cardiomyopathy 3B"} +{"id": "MONDO_0010542", "parentIds": ["MONDO_0100545", "MONDO_0016147", "MONDO_0016333"], "name": "dilated cardiomyopathy 3B"} {"id": "MONDO_0010543", "parentIds": ["MONDO_0018117", "MONDO_0009637", "MONDO_0016333", "MONDO_0015134", "MONDO_0017359", "MONDO_0015905"], "name": "Barth syndrome"} -{"id": "MONDO_0010545", "parentIds": ["OTAR_0000018"], "name": "Nance-Horan syndrome"} +{"id": "MONDO_0010544", "parentIds": ["MONDO_0011060"], "name": "cataract 40"} +{"id": "MONDO_0010545", "parentIds": ["EFO_0000508"], "name": "Nance-Horan syndrome"} {"id": "MONDO_0010547", "parentIds": ["MONDO_0016612"], "name": "X-linked progressive cerebellar ataxia"} {"id": "MONDO_0010549", "parentIds": ["MONDO_0018994"], "name": "Charcot-Marie-Tooth disease X-linked dominant 1"} {"id": "MONDO_0010550", "parentIds": ["MONDO_0018994"], "name": "Charcot-Marie-Tooth disease X-linked recessive 2"} {"id": "MONDO_0010551", "parentIds": ["MONDO_0018994"], "name": "Charcot-Marie-Tooth disease X-linked recessive 3"} -{"id": "MONDO_0010554", "parentIds": ["MONDO_0015161", "MONDO_0015620"], "name": "Abruzzo-Erickson syndrome"} +{"id": "MONDO_0010554", "parentIds": ["MONDO_0015161", "EFO_0000508"], "name": "Abruzzo-Erickson syndrome"} {"id": "MONDO_0010555", "parentIds": ["MONDO_0010556"], "name": "X-linked chondrodysplasia punctata 1"} {"id": "MONDO_0010556", "parentIds": ["MONDO_0019240", "MONDO_0000425", "MONDO_0015775"], "name": "X-linked chondrodysplasia punctata"} {"id": "MONDO_0010557", "parentIds": ["MONDO_0043218", "MONDO_0019118", "MONDO_0000425", "MONDO_0001898"], "name": "choroideremia"} -{"id": "MONDO_0010558", "parentIds": ["MONDO_0019118", "MONDO_0016565"], "name": "choroideremia-deafness-obesity syndrome"} -{"id": "MONDO_0010559", "parentIds": ["MONDO_0017140", "MONDO_0020339"], "name": "MASA syndrome"} +{"id": "MONDO_0010558", "parentIds": ["MONDO_0019118"], "name": "choroideremia-deafness-obesity syndrome"} +{"id": "MONDO_0010559", "parentIds": ["MONDO_0017140", "MONDO_0015150"], "name": "MASA syndrome"} {"id": "MONDO_0010560", "parentIds": ["MONDO_0016064"], "name": "cleft palate with or without ankyloglossia, X-linked"} {"id": "MONDO_0010561", "parentIds": ["MONDO_0020119"], "name": "Coffin-Lowry syndrome"} -{"id": "MONDO_0010562", "parentIds": ["MONDO_0015211"], "name": "colonic atresia"} +{"id": "MONDO_0010562", "parentIds": ["EFO_0010282"], "name": "colonic atresia"} {"id": "MONDO_0010563", "parentIds": ["MONDO_0020605", "MONDO_0021155", "MONDO_0018852"], "name": "blue cone monochromacy"} -{"id": "MONDO_0010568", "parentIds": ["MONDO_0015368", "EFO_0010642"], "name": "Aicardi syndrome"} -{"id": "MONDO_0010569", "parentIds": ["MONDO_0017140"], "name": "X-linked complicated corpus callosum dysgenesis"} -{"id": "MONDO_0010570", "parentIds": ["MONDO_0800085"], "name": "craniofrontonasal syndrome"} +{"id": "MONDO_0010566", "parentIds": ["MONDO_0100437", "MONDO_0021155"], "name": "X-linked cone-rod dystrophy 1"} +{"id": "MONDO_0010568", "parentIds": ["EFO_0010642"], "name": "Aicardi syndrome"} +{"id": "MONDO_0010569", "parentIds": ["EFO_0000508", "MONDO_0017140"], "name": "X-linked complicated corpus callosum dysgenesis"} +{"id": "MONDO_0010570", "parentIds": ["MONDO_0018230"], "name": "craniofrontonasal syndrome"} {"id": "MONDO_0010571", "parentIds": ["MONDO_0019027"], "name": "otopalatodigital syndrome type 2"} -{"id": "MONDO_0010572", "parentIds": ["MONDO_0100237", "MONDO_0015327", "MONDO_0017762", "MONDO_0015160"], "name": "occipital horn syndrome"} +{"id": "MONDO_0010572", "parentIds": ["MONDO_0017762", "MONDO_0015160", "MONDO_0100237", "MONDO_0015327"], "name": "occipital horn syndrome"} {"id": "MONDO_0010574", "parentIds": ["MONDO_0020119", "MONDO_0015159", "MONDO_0002320", "MONDO_0020022"], "name": "syndromic X-linked intellectual disability 5"} {"id": "MONDO_0010575", "parentIds": ["OTAR_0000018"], "name": "deafness-hypogonadism syndrome"} {"id": "MONDO_0010576", "parentIds": ["MONDO_0019586", "MONDO_0018751", "EFO_0009672"], "name": "X-linked mixed hearing loss with perilymphatic gusher"} {"id": "MONDO_0010578", "parentIds": ["MONDO_0024237"], "name": "deafness dystonia syndrome"} -{"id": "MONDO_0010579", "parentIds": ["MONDO_0020215"], "name": "X-linked corneal dermoid"} -{"id": "MONDO_0010580", "parentIds": ["MONDO_0000569", "MONDO_0019126", "MONDO_0019787", "MONDO_0015126", "EFO_1002003"], "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"} +{"id": "MONDO_0010579", "parentIds": ["EFO_0009464"], "name": "X-linked corneal dermoid"} +{"id": "MONDO_0010580", "parentIds": ["MONDO_0000569", "MONDO_0019787", "EFO_0000508", "MONDO_0015126", "EFO_1002003"], "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"} +{"id": "MONDO_0010583", "parentIds": ["MONDO_0009130", "MONDO_0000425"], "name": "Dyggve-Melchior-Clausen syndrome, X-linked"} {"id": "MONDO_0010584", "parentIds": ["MONDO_0100152", "MONDO_0000425"], "name": "dyskeratosis congenita, X-linked"} {"id": "MONDO_0010585", "parentIds": ["MONDO_0000425", "MONDO_0016535"], "name": "X-linked hypohidrotic ectodermal dysplasia"} {"id": "MONDO_0010586", "parentIds": ["MONDO_0000425", "MONDO_0020066"], "name": "X-linked Ehlers-Danlos syndrome"} -{"id": "MONDO_0010589", "parentIds": ["MONDO_0021005", "MONDO_0000425", "MONDO_0019313", "MONDO_0019520", "EFO_0009297"], "name": "Aarskog-Scott syndrome, X-linked"} +{"id": "MONDO_0010587", "parentIds": ["MONDO_0000425", "MONDO_0009176"], "name": "epidermodysplasia verruciformis, X-linked"} +{"id": "MONDO_0010588", "parentIds": ["MONDO_0019516", "MONDO_0000425"], "name": "exudative vitreoretinopathy 2, X-linked"} +{"id": "MONDO_0010589", "parentIds": ["MONDO_0021005", "MONDO_0000425", "EFO_0009297"], "name": "Aarskog-Scott syndrome, X-linked"} +{"id": "MONDO_0010590", "parentIds": ["MONDO_0100000", "EFO_0009297"], "name": "FG syndrome 1"} {"id": "MONDO_0010591", "parentIds": ["MONDO_0019952"], "name": "fingerprint body myopathy"} {"id": "MONDO_0010592", "parentIds": ["MONDO_0019755", "MONDO_0020119"], "name": "focal dermal hypoplasia"} +{"id": "MONDO_0010598", "parentIds": ["MONDO_0020693"], "name": "glycogen storage disease IXa1"} {"id": "MONDO_0010602", "parentIds": ["MONDO_0021181", "MONDO_0000425", "MONDO_0002243", "MONDO_0018660"], "name": "hemophilia A"} -{"id": "MONDO_0010604", "parentIds": ["MONDO_0002243", "MONDO_0018660"], "name": "hemophilia B"} -{"id": "MONDO_0010611", "parentIds": ["MONDO_0016349", "MONDO_0000425", "MONDO_0017140"], "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius"} +{"id": "MONDO_0010604", "parentIds": ["MONDO_0002243", "MONDO_0018660", "MONDO_0021181"], "name": "hemophilia B"} +{"id": "MONDO_0010611", "parentIds": ["MONDO_0000425", "MONDO_0016349", "MONDO_0017140"], "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius"} {"id": "MONDO_0010612", "parentIds": ["OTAR_0000018"], "name": "hydrocephaly-cerebellar agenesis syndrome"} -{"id": "MONDO_0010613", "parentIds": ["MONDO_0019227"], "name": "inborn glycerol kinase deficiency"} +{"id": "MONDO_0010613", "parentIds": ["MONDO_0019052"], "name": "inborn glycerol kinase deficiency"} {"id": "MONDO_0010614", "parentIds": ["MONDO_0016381"], "name": "X-linked congenital generalized hypertrichosis"} {"id": "MONDO_0010615", "parentIds": ["MONDO_0000050"], "name": "isolated growth hormone deficiency type III"} {"id": "MONDO_0010617", "parentIds": ["MONDO_0015159"], "name": "male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"} {"id": "MONDO_0010618", "parentIds": ["MONDO_0007796"], "name": "familial isolated hypoparathyroidism due to agenesis of parathyroid gland"} {"id": "MONDO_0010619", "parentIds": ["MONDO_0800096", "MONDO_0020720", "MONDO_0020604"], "name": "X-linked dominant hypophosphatemic rickets"} -{"id": "MONDO_0010621", "parentIds": ["MONDO_0023603", "MONDO_0017269", "MONDO_0015905", "EFO_0009675", "MONDO_0015950", "MONDO_0000631", "MONDO_0015161", "MONDO_0010556"], "name": "CHILD syndrome"} +{"id": "MONDO_0010621", "parentIds": ["MONDO_0023603", "MONDO_0017269", "MONDO_0019240", "MONDO_0100118", "MONDO_0015905", "EFO_0009675", "MONDO_0000631", "MONDO_0015161", "MONDO_0019701"], "name": "CHILD syndrome"} {"id": "MONDO_0010622", "parentIds": ["MONDO_0019256", "MONDO_0015947", "MONDO_0020605"], "name": "recessive X-linked ichthyosis"} -{"id": "MONDO_0010626", "parentIds": ["MONDO_0000425", "MONDO_0015975"], "name": "hyper-IgM syndrome type 1"} +{"id": "MONDO_0010626", "parentIds": ["MONDO_0003947", "MONDO_0000425"], "name": "hyper-IgM syndrome type 1"} {"id": "MONDO_0010627", "parentIds": ["MONDO_0021094", "MONDO_0000425", "MONDO_0016537", "MONDO_0015541"], "name": "X-linked lymphoproliferative syndrome"} {"id": "MONDO_0010631", "parentIds": ["MONDO_0019287", "MONDO_0020247"], "name": "incontinentia pigmenti"} {"id": "MONDO_0010632", "parentIds": ["MONDO_0018097", "MONDO_0100062"], "name": "developmental and epileptic encephalopathy, 1"} {"id": "MONDO_0010635", "parentIds": ["MONDO_0018800"], "name": "hypogonadotropic hypogonadism 1 with or without anosmia"} {"id": "MONDO_0010638", "parentIds": ["OTAR_0000018"], "name": "keratosis follicularis-dwarfism-cerebral atrophy syndrome"} {"id": "MONDO_0010639", "parentIds": ["OTAR_0000018"], "name": "laryngeal abductor paralysis-intellectual disability syndrome"} -{"id": "MONDO_0010641", "parentIds": ["MONDO_0100191", "MONDO_0017007", "MONDO_0019723"], "name": "X-linked diffuse leiomyomatosis-Alport syndrome"} +{"id": "MONDO_0010641", "parentIds": ["MONDO_0017007", "EFO_0003086"], "name": "X-linked diffuse leiomyomatosis-Alport syndrome"} {"id": "MONDO_0010645", "parentIds": ["MONDO_0019216", "EFO_0003966", "MONDO_0015962"], "name": "oculocerebrorenal syndrome"} -{"id": "MONDO_0010649", "parentIds": ["MONDO_0009576", "MONDO_0020219"], "name": "isolated congenital megalocornea"} -{"id": "MONDO_0010650", "parentIds": ["MONDO_0020119", "MONDO_0018233"], "name": "Melnick-Needles syndrome"} +{"id": "MONDO_0010647", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure, X-linked, 2"} +{"id": "MONDO_0010649", "parentIds": ["MONDO_0009576"], "name": "isolated congenital megalocornea"} +{"id": "MONDO_0010650", "parentIds": ["MONDO_0018233", "MONDO_0020119"], "name": "Melnick-Needles syndrome"} {"id": "MONDO_0010651", "parentIds": ["MONDO_0004689", "MONDO_0017762"], "name": "Menkes disease"} {"id": "MONDO_0010652", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability-seizures-psoriasis syndrome"} {"id": "MONDO_0010653", "parentIds": ["MONDO_0020119"], "name": "Renpenning syndrome"} {"id": "MONDO_0010654", "parentIds": ["MONDO_0020119"], "name": "Partington syndrome"} {"id": "MONDO_0010655", "parentIds": ["MONDO_0100000", "MONDO_0015159", "MONDO_0002320"], "name": "X-linked intellectual disability with marfanoid habitus"} -{"id": "MONDO_0010657", "parentIds": ["MONDO_0019181", "MONDO_0019213", "MONDO_0016826"], "name": "methylmalonic acidemia with homocystinuria, type cblX"} +{"id": "MONDO_0010657", "parentIds": ["MONDO_0019181", "MONDO_0016826"], "name": "methylmalonic acidemia with homocystinuria, type cblX"} {"id": "MONDO_0010658", "parentIds": ["MONDO_0020119"], "name": "syndromic X-linked intellectual disability 12"} {"id": "MONDO_0010659", "parentIds": ["MONDO_0019181"], "name": "FRAXE intellectual disability"} {"id": "MONDO_0010661", "parentIds": ["MONDO_0020119"], "name": "severe X-linked intellectual disability, Gustavson type"} @@ -4713,161 +6348,186 @@ {"id": "MONDO_0010664", "parentIds": ["MONDO_0020119", "MONDO_0800159"], "name": "syndromic X-linked intellectual disability Snyder type"} {"id": "MONDO_0010665", "parentIds": ["MONDO_0020119"], "name": "Wilson-Turner syndrome"} {"id": "MONDO_0010667", "parentIds": ["MONDO_0020119"], "name": "Prieto syndrome"} -{"id": "MONDO_0010668", "parentIds": ["MONDO_0020119", "MONDO_0019694", "MONDO_0015246"], "name": "skeletal dysplasia-intellectual disability syndrome"} +{"id": "MONDO_0010668", "parentIds": ["MONDO_0020119", "MONDO_0019694"], "name": "skeletal dysplasia-intellectual disability syndrome"} {"id": "MONDO_0010669", "parentIds": ["MONDO_0019530"], "name": "syndactyly type 8"} {"id": "MONDO_0010670", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual 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syndrome"} -{"id": "MONDO_0011500", "parentIds": ["MONDO_0015853", "MONDO_0021148", "MONDO_0019755", "EFO_0009675", "MONDO_0015950", "MONDO_0000383", "MONDO_0000620"], "name": "Becker nevus syndrome"} +{"id": "MONDO_0011500", "parentIds": ["MONDO_0019755", "EFO_0009675", "MONDO_0100118"], "name": "Becker nevus syndrome"} {"id": "MONDO_0011501", "parentIds": ["EFO_0000508", "EFO_0009676"], "name": "wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia"} {"id": "MONDO_0011504", "parentIds": ["MONDO_0015660", "MONDO_0700116"], "name": "NDE1-related microhydranencephaly"} -{"id": "MONDO_0011506", "parentIds": ["MONDO_0016022", "MONDO_0019486"], "name": "familial infantile myoclonic epilepsy"} -{"id": "MONDO_0011510", "parentIds": ["MONDO_0000508", "MONDO_0002320", "MONDO_0015159"], "name": "Bohring-Opitz syndrome"} -{"id": "MONDO_0011512", "parentIds": ["MONDO_0020180", "MONDO_0015950", "MONDO_0000426"], "name": "Brooke-Spiegler syndrome"} -{"id": "MONDO_0011517", "parentIds": ["EFO_0009682"], "name": "pseudohyperaldosteronism type 2"} -{"id": "MONDO_0011518", "parentIds": ["MONDO_0015159"], "name": "Wiedemann-Steiner syndrome"} -{"id": "MONDO_0011522", "parentIds": ["MONDO_0017915"], "name": "hereditary spastic paraplegia 14"} +{"id": "MONDO_0011505", "parentIds": ["MONDO_0017774"], "name": "familial hypobetalipoproteinemia 2"} +{"id": "MONDO_0011506", "parentIds": ["MONDO_0016022", "MONDO_0015653"], "name": "familial infantile myoclonic epilepsy"} +{"id": "MONDO_0011510", "parentIds": ["MONDO_0100545", "MONDO_0000508", "MONDO_0002320", "MONDO_0015159"], "name": "Bohring-Opitz syndrome"} +{"id": "MONDO_0011512", "parentIds": ["MONDO_0015356", "MONDO_0000426"], "name": "Brooke-Spiegler syndrome"} +{"id": "MONDO_0011514", "parentIds": ["MONDO_0100547", "MONDO_0020289", "EFO_0005207"], "name": "tricuspid atresia"} +{"id": "MONDO_0011517", "parentIds": ["EFO_0009682", "EFO_0000508"], "name": "pseudohyperaldosteronism type 2"} +{"id": "MONDO_0011518", "parentIds": ["MONDO_0015159", "EFO_0000508"], "name": "Wiedemann-Steiner syndrome"} +{"id": "MONDO_0011522", "parentIds": ["MONDO_0019064"], "name": "hereditary spastic paraplegia 14"} {"id": "MONDO_0011524", "parentIds": ["MONDO_0016537"], "name": "Dianzani autoimmune lymphoproliferative disease"} {"id": "MONDO_0011527", "parentIds": ["MONDO_0018995", "MONDO_0033352"], "name": "Charcot-Marie-Tooth disease type 4E"} -{"id": "MONDO_0011528", "parentIds": ["MONDO_0015976", "EFO_1000017"], "name": "hyper-IgM syndrome type 2"} +{"id": "MONDO_0011528", "parentIds": ["MONDO_0003947", "EFO_1000017"], "name": "hyper-IgM syndrome type 2"} {"id": "MONDO_0011529", "parentIds": ["MONDO_0019792"], "name": "spinocerebellar ataxia type 13"} -{"id": "MONDO_0011530", "parentIds": ["MONDO_0019697"], "name": "mesomelic dysplasia, Savarirayan type"} -{"id": "MONDO_0011532", "parentIds": ["MONDO_0017914"], "name": "hereditary spastic paraplegia 13"} -{"id": "MONDO_0011533", "parentIds": ["MONDO_0800094", "EFO_1000017", "MONDO_0019054", "MONDO_0017742", "MONDO_0018454", "MONDO_0018292"], "name": "temtamy preaxial brachydactyly syndrome"} -{"id": "MONDO_0011534", "parentIds": ["MONDO_0002316", "MONDO_0017688", "MONDO_0018995"], "name": "Charcot-Marie-Tooth disease type 4G"} +{"id": "MONDO_0011530", "parentIds": ["MONDO_0023599", "MONDO_0018230"], "name": "mesomelic dysplasia, Savarirayan type"} +{"id": "MONDO_0011532", "parentIds": ["MONDO_0019064"], "name": "hereditary spastic paraplegia 13"} +{"id": "MONDO_0011533", "parentIds": ["EFO_0002461", "EFO_1000017", "MONDO_0015286", "MONDO_0019054", "MONDO_0015327"], "name": "temtamy preaxial brachydactyly syndrome"} +{"id": "MONDO_0011534", "parentIds": ["MONDO_0002316", "MONDO_0018995", "MONDO_0017688"], "name": "Charcot-Marie-Tooth disease type 4G"} +{"id": "MONDO_0011535", "parentIds": ["MONDO_0016576"], "name": "split hand-foot malformation 4"} {"id": "MONDO_0011537", "parentIds": ["MONDO_0000426"], "name": "macrocephaly-autism syndrome"} -{"id": "MONDO_0011539", "parentIds": ["MONDO_0018958", "MONDO_0018701", "MONDO_0017302", "MONDO_0002320"], "name": "nemaline myopathy 5"} +{"id": "MONDO_0011539", "parentIds": ["MONDO_0018958"], "name": "nemaline myopathy 5"} {"id": "MONDO_0011540", "parentIds": ["MONDO_0019792"], "name": "spinocerebellar ataxia type 14"} {"id": "MONDO_0011541", "parentIds": ["MONDO_0016333"], "name": "dilated cardiomyopathy 1J"} -{"id": "MONDO_0011551", "parentIds": ["MONDO_0017756", "EFO_1000017", "MONDO_0017307", "MONDO_0100064", "MONDO_0016812"], "name": "TH-deficient dopa-responsive dystonia"} -{"id": "MONDO_0011555", "parentIds": ["MONDO_0018454", "MONDO_0018795", "MONDO_0009332", "MONDO_0019054"], "name": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"} +{"id": "MONDO_0011551", "parentIds": ["EFO_1000017", "MONDO_0017307", "MONDO_0100545", "MONDO_0100064", "MONDO_0016812"], "name": "TH-deficient dopa-responsive dystonia"} +{"id": "MONDO_0011555", "parentIds": ["MONDO_0018234", "MONDO_0018795", "MONDO_0009332", "MONDO_0019054"], "name": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"} {"id": "MONDO_0011559", "parentIds": ["MONDO_0019008"], "name": "benign recurrent intrahepatic cholestasis type 2"} {"id": "MONDO_0011565", "parentIds": ["MONDO_0000816"], "name": "metabolic syndrome X"} {"id": "MONDO_0011569", "parentIds": ["MONDO_0021106", "MONDO_0018993"], "name": "Charcot-Marie-Tooth disease type 2B1"} @@ -5100,24 +6790,24 @@ {"id": "MONDO_0011575", "parentIds": ["MONDO_0015159"], "name": "cerebrooculonasal syndrome"} {"id": "MONDO_0011576", "parentIds": ["MONDO_0016525", "MONDO_0036591"], "name": "familial hyperaldosteronism type II"} {"id": "MONDO_0011577", "parentIds": ["MONDO_0019952", "EFO_0007323"], "name": "myopathy, proximal, and ophthalmoplegia"} -{"id": "MONDO_0011578", "parentIds": ["EFO_0002890", "MONDO_0017891", "MONDO_0017896"], "name": "familial papillary thyroid carcinoma with renal papillary neoplasia"} +{"id": "MONDO_0011578", "parentIds": ["MONDO_0017896"], "name": "familial papillary thyroid carcinoma with renal papillary neoplasia"} {"id": "MONDO_0011579", "parentIds": ["MONDO_0019118"], "name": "late-onset retinal degeneration"} {"id": "MONDO_0011581", "parentIds": ["MONDO_0100080", "MONDO_0019287"], "name": "arrhythmogenic cardiomyopathy with wooly hair and keratoderma"} {"id": "MONDO_0011582", "parentIds": ["MONDO_0017338"], "name": "multiple mitochondrial dysfunctions syndrome 1"} {"id": "MONDO_0011583", "parentIds": ["EFO_0006790"], "name": "cerebral amyloid angiopathy, APP-related"} -{"id": "MONDO_0011584", "parentIds": ["MONDO_0019391", "MONDO_0017891"], "name": "Fanconi anemia complementation group D1"} -{"id": "MONDO_0011585", "parentIds": ["EFO_0008525", "MONDO_0015363"], "name": "autosomal recessive distal spinal muscular atrophy 2"} +{"id": "MONDO_0011584", "parentIds": ["MONDO_0019391"], "name": "Fanconi anemia complementation group D1"} +{"id": "MONDO_0011585", "parentIds": ["MONDO_0015363", "EFO_0008525"], "name": "autosomal recessive distal spinal muscular atrophy 2"} {"id": "MONDO_0011595", "parentIds": ["MONDO_0019284"], "name": "nonsyndromic congenital nail disorder 7"} -{"id": "MONDO_0011599", "parentIds": ["MONDO_0019541"], "name": "birdshot chorioretinopathy"} +{"id": "MONDO_0011599", "parentIds": ["EFO_1001119"], "name": "birdshot chorioretinopathy"} {"id": "MONDO_0011601", "parentIds": ["MONDO_0016602"], "name": "neonatal intrahepatic cholestasis due to citrin deficiency"} -{"id": "MONDO_0011603", "parentIds": ["MONDO_0017749", "MONDO_0002320", "MONDO_0009332", "EFO_0007323", "MONDO_0016112", "MONDO_0016200", "MONDO_0018795", "MONDO_0016109"], "name": "GNE myopathy"} +{"id": "MONDO_0011603", "parentIds": ["MONDO_0017749", "MONDO_0009332", "EFO_0007323", "MONDO_0016112", "MONDO_0018795"], "name": "GNE myopathy"} {"id": "MONDO_0011604", "parentIds": ["MONDO_0020247", "MONDO_0800064"], "name": "spondylo-ocular syndrome"} -{"id": "MONDO_0011605", "parentIds": ["MONDO_0015950"], "name": "generalized basaloid follicular hamartoma syndrome"} +{"id": "MONDO_0011605", "parentIds": ["MONDO_0100118"], "name": "generalized basaloid follicular hamartoma syndrome"} {"id": "MONDO_0011610", "parentIds": ["MONDO_0100477"], "name": "dimethylglycine dehydrogenase deficiency"} -{"id": "MONDO_0011612", "parentIds": ["MONDO_0019239", "EFO_0005774", "MONDO_0004736"], "name": "glycine encephalopathy"} +{"id": "MONDO_0011612", "parentIds": ["MONDO_0019239", "EFO_0005774", "MONDO_0100545"], "name": "glycine encephalopathy"} {"id": "MONDO_0011614", "parentIds": ["MONDO_0017713"], "name": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency"} {"id": "MONDO_0011615", "parentIds": ["MONDO_0002242", "MONDO_0002243"], "name": "East Texas bleeding disorder"} -{"id": "MONDO_0011620", "parentIds": ["MONDO_0800084"], "name": "metaphyseal dysplasia, Braun-Tinschert type"} +{"id": "MONDO_0011620", "parentIds": ["MONDO_0018230"], "name": "metaphyseal dysplasia, Braun-Tinschert type"} {"id": "MONDO_0011621", "parentIds": ["MONDO_0800066", "MONDO_0019054"], "name": "acropectoral syndrome"} {"id": "MONDO_0011624", "parentIds": ["MONDO_0019231"], "name": "transaldolase deficiency"} {"id": "MONDO_0011628", "parentIds": ["MONDO_0019215"], "name": "propionic acidemia"} @@ -5126,14 +6816,15 @@ {"id": "MONDO_0011633", "parentIds": ["MONDO_0018993", "MONDO_0002316"], "name": "Charcot-Marie-Tooth disease axonal type 2C"} {"id": "MONDO_0011634", "parentIds": ["EFO_0004145"], "name": "rippling muscle disease"} {"id": "MONDO_0011638", "parentIds": ["MONDO_0018307", "MONDO_0015548", "MONDO_0017763"], "name": "neuroferritinopathy"} -{"id": "MONDO_0011640", "parentIds": ["MONDO_0019712", "MONDO_0015159"], "name": "genitopatellar syndrome"} +{"id": "MONDO_0011640", "parentIds": ["MONDO_0018234", "MONDO_0018230", "MONDO_0015159"], "name": "genitopatellar syndrome"} +{"id": "MONDO_0011651", "parentIds": ["EFO_0000508"], "name": "intellectual disability, short stature, facial anomalies, and joint dislocations"} {"id": "MONDO_0011652", "parentIds": ["MONDO_0022760"], "name": "Phelan-McDermid syndrome"} {"id": "MONDO_0011661", "parentIds": ["EFO_0003767"], "name": "inflammatory bowel disease 5"} {"id": "MONDO_0011663", "parentIds": ["MONDO_0018155", "MONDO_0100227"], "name": "juvenile primary lateral sclerosis"} {"id": "MONDO_0011664", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency due to CD25 deficiency"} {"id": "MONDO_0011667", "parentIds": ["MONDO_0018911"], "name": "maturity-onset diabetes of the young type 4"} {"id": "MONDO_0011668", "parentIds": ["MONDO_0018911"], "name": "maturity-onset diabetes of the young type 6"} -{"id": "MONDO_0011669", "parentIds": ["MONDO_0018246", "MONDO_0004069", "MONDO_0019216"], "name": "hypotonia-cystinuria syndrome"} +{"id": "MONDO_0011669", "parentIds": ["MONDO_0016884", "MONDO_0004069", "MONDO_0019216"], "name": "hypotonia-cystinuria syndrome"} {"id": "MONDO_0011670", "parentIds": ["MONDO_0020066"], "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency"} {"id": "MONDO_0011671", "parentIds": ["MONDO_0016987"], "name": "Huntington disease-like 2"} {"id": "MONDO_0011674", "parentIds": ["MONDO_0019548"], "name": "Charcot-Marie-Tooth disease dominant intermediate B"} @@ -5148,75 +6839,91 @@ {"id": "MONDO_0011688", "parentIds": ["MONDO_0700066", "MONDO_0000172"], "name": "muscular dystrophy-dystroglycanopathy type B5"} {"id": "MONDO_0011694", "parentIds": ["MONDO_0019792"], "name": "spinocerebellar ataxia type 15/16"} {"id": "MONDO_0011698", "parentIds": ["MONDO_0000351"], "name": "glycine N-methyltransferase deficiency"} +{"id": "MONDO_0011702", "parentIds": ["MONDO_0016144", "MONDO_0016333"], "name": "dilated cardiomyopathy 1L"} {"id": "MONDO_0011705", "parentIds": ["EFO_1000464"], "name": "lymphangioleiomyomatosis"} {"id": "MONDO_0011706", "parentIds": ["MONDO_0018307", "MONDO_0000828"], "name": "Kufor-Rakeb syndrome"} +{"id": "MONDO_0011708", "parentIds": ["MONDO_0019587"], "name": "autosomal dominant nonsyndromic hearing loss 36"} +{"id": "MONDO_0011715", "parentIds": ["MONDO_0019342", "MONDO_0800063"], "name": "Seckel syndrome 2"} {"id": "MONDO_0011717", "parentIds": ["MONDO_0015624", "MONDO_0800153"], "name": "hyperinsulinism-hyperammonemia syndrome"} -{"id": "MONDO_0011719", "parentIds": ["MONDO_0017128", "MONDO_0018506"], "name": "gastrointestinal stromal tumor"} -{"id": "MONDO_0011721", "parentIds": ["MONDO_0016109", "MONDO_0016145"], "name": "distal myopathy with anterior tibial onset"} -{"id": "MONDO_0011722", "parentIds": ["MONDO_0016565", "MONDO_0015159"], "name": "intellectual disability-obesity-prognathism-eye and skin anomalies syndrome"} +{"id": "MONDO_0011719", "parentIds": ["MONDO_0018506", "EFO_0000508"], "name": "gastrointestinal stromal tumor"} +{"id": "MONDO_0011720", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 3"} +{"id": "MONDO_0011721", "parentIds": ["MONDO_0018949", "MONDO_0016145"], "name": "distal myopathy with anterior tibial onset"} +{"id": "MONDO_0011722", "parentIds": ["MONDO_0015159"], "name": "intellectual disability-obesity-prognathism-eye and skin anomalies syndrome"} {"id": "MONDO_0011724", "parentIds": ["MONDO_0000188"], "name": "encephalopathy due to GLUT1 deficiency"} {"id": "MONDO_0011725", "parentIds": ["MONDO_0009044"], "name": "Crigler-Najjar syndrome type 2"} -{"id": "MONDO_0011728", "parentIds": ["MONDO_0000477"], "name": "blepharospasm"} +{"id": "MONDO_0011726", "parentIds": ["EFO_0000508"], "name": "peripheral arterial occlusive disease 1"} +{"id": "MONDO_0011728", "parentIds": ["MONDO_0000477"], "name": "benign essential blepharospasm"} {"id": "MONDO_0011730", "parentIds": ["MONDO_0016790", "MONDO_0020127", "MONDO_0004069"], "name": "fumaric aciduria"} -{"id": "MONDO_0011731", "parentIds": ["MONDO_0015178", "MONDO_0019226"], "name": "glucose-galactose malabsorption"} -{"id": "MONDO_0011732", "parentIds": 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"primary intraosseous venous malformation"} +{"id": "MONDO_0011744", "parentIds": ["MONDO_0016223", "EFO_0000508"], "name": "primary intraosseous venous malformation"} {"id": "MONDO_0011749", "parentIds": ["MONDO_0008745"], "name": "oculocutaneous albinism type 1B"} {"id": "MONDO_0011754", "parentIds": ["MONDO_0018541"], "name": "familial hyperreninemic hypoaldosteronism type 2"} {"id": "MONDO_0011758", "parentIds": ["MONDO_0800088", "MONDO_0016340", "MONDO_0001586"], "name": "Hurler syndrome"} {"id": "MONDO_0011759", "parentIds": ["MONDO_0800088", "MONDO_0001586"], "name": "Hurler-Scheie syndrome"} -{"id": "MONDO_0011760", "parentIds": ["MONDO_0800088", "MONDO_0001586"], "name": "Scheie syndrome"} +{"id": "MONDO_0011760", "parentIds": ["MONDO_0001586", "MONDO_0800088"], "name": "Scheie syndrome"} {"id": "MONDO_0011765", "parentIds": ["MONDO_0016648"], "name": "multiple epiphyseal dysplasia type 5"} -{"id": "MONDO_0011766", "parentIds": ["MONDO_0010765"], "name": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"} -{"id": "MONDO_0011771", "parentIds": ["EFO_0008525", "MONDO_0015363"], "name": "distal spinal muscular atrophy type 3"} -{"id": "MONDO_0011772", "parentIds": ["EFO_0005546", "MONDO_0020022", "MONDO_0002320", "MONDO_0015327", "MONDO_0017749"], "name": "B4GALT1-congenital disorder of glycosylation"} +{"id": "MONDO_0011766", "parentIds": ["MONDO_0020040", "MONDO_0010765"], "name": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"} +{"id": "MONDO_0011767", "parentIds": ["MONDO_0019588"], "name": "autosomal recessive nonsyndromic hearing loss 31"} +{"id": "MONDO_0011771", "parentIds": ["EFO_0008525", "MONDO_0015363"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 3"} +{"id": "MONDO_0011772", "parentIds": ["MONDO_0017749", "EFO_0005546", "MONDO_0015327", "MONDO_0100545", "MONDO_0020022", "MONDO_0002320"], "name": "B4GALT1-congenital disorder of glycosylation"} {"id": "MONDO_0011773", "parentIds": 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"parentIds": ["MONDO_0016108", "MONDO_0020343"], "name": "myofibrillar myopathy 2"} +{"id": "MONDO_0012128", "parentIds": ["MONDO_0019443"], "name": "transposition of the great arteries, dextro-looped"} +{"id": "MONDO_0012130", "parentIds": ["MONDO_0016108"], "name": "myofibrillar myopathy 2"} +{"id": "MONDO_0012132", "parentIds": ["MONDO_0015356"], "name": "colorectal cancer, susceptibility to, 1"} {"id": "MONDO_0012136", "parentIds": ["MONDO_0015515"], "name": "carnitine palmitoyl transferase II deficiency, neonatal form"} {"id": "MONDO_0012137", "parentIds": ["MONDO_0015285", "MONDO_0016432"], "name": "Carney complex - trismus - pseudocamptodactyly syndrome"} {"id": "MONDO_0012138", "parentIds": ["MONDO_0000172"], "name": "muscular dystrophy-dystroglycanopathy type B6"} -{"id": "MONDO_0012143", "parentIds": ["MONDO_0000508", "MONDO_0017706", "MONDO_0020102", "MONDO_0003689"], "name": "hereditary cryohydrocytosis with reduced stomatin"} -{"id": "MONDO_0012155", "parentIds": 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"Meacham syndrome"} -{"id": "MONDO_0012165", "parentIds": ["MONDO_0015161", "MONDO_0015246", "MONDO_0000110"], "name": "BNAR syndrome"} +{"id": "MONDO_0012164", "parentIds": ["MONDO_0020040", "EFO_0000508"], "name": "Meacham syndrome"} +{"id": "MONDO_0012165", "parentIds": ["MONDO_0018751", "MONDO_0015161", "MONDO_0000110"], "name": "BNAR syndrome"} +{"id": "MONDO_0012166", "parentIds": ["EFO_0009671", "MONDO_0100311"], "name": "autosomal dominant sensory ataxia 1"} {"id": "MONDO_0012172", "parentIds": ["MONDO_0002525", "MONDO_0009637"], "name": "mitochondrial trifunctional protein deficiency"} -{"id": "MONDO_0012173", "parentIds": ["MONDO_0017713", "MONDO_0024573", "MONDO_0020127"], "name": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"} +{"id": "MONDO_0012173", "parentIds": ["MONDO_0024573", "MONDO_0017713", "MONDO_0020127"], "name": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"} {"id": "MONDO_0012176", "parentIds": ["EFO_0000508"], "name": "Emanuel syndrome"} {"id": "MONDO_0012177", "parentIds": ["MONDO_0100449"], "name": "posterior column ataxia-retinitis pigmentosa syndrome"} -{"id": "MONDO_0012181", "parentIds": ["MONDO_0015089"], "name": "hereditary spastic paraplegia 27"} +{"id": "MONDO_0012181", "parentIds": ["MONDO_0015150"], "name": "hereditary spastic paraplegia 27"} +{"id": "MONDO_0012183", "parentIds": ["MONDO_0024462"], "name": "melanoma, cutaneous malignant, susceptibility to, 3"} {"id": "MONDO_0012184", "parentIds": ["EFO_1000017", "MONDO_0013621"], "name": "Pierson syndrome"} {"id": "MONDO_0012185", "parentIds": ["MONDO_0016763"], "name": "spondylometaphyseal dysplasia, A4 type"} {"id": "MONDO_0012186", "parentIds": ["MONDO_0019391"], "name": "Fanconi anemia complementation group I"} {"id": "MONDO_0012187", "parentIds": ["MONDO_0019391"], "name": "Fanconi anemia complementation group J"} {"id": "MONDO_0012188", "parentIds": ["MONDO_0019262"], "name": "neuronal ceroid lipofuscinosis 9"} -{"id": "MONDO_0012190", "parentIds": ["MONDO_0100191", "MONDO_0019723", "MONDO_0017610"], "name": "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome"} +{"id": "MONDO_0012190", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex 7, with nephropathy and deafness"} {"id": "MONDO_0012191", "parentIds": ["MONDO_0000732"], "name": "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"} -{"id": "MONDO_0012192", "parentIds": ["MONDO_0015327", "MONDO_0016391", "MONDO_0020022"], "name": "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"} +{"id": "MONDO_0012192", "parentIds": ["MONDO_0100545", "MONDO_0015327", "MONDO_0016391", "MONDO_0020022"], "name": "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"} {"id": "MONDO_0012193", "parentIds": ["MONDO_0015151"], "name": "autosomal dominant limb-girdle muscular dystrophy type 1G"} {"id": "MONDO_0012195", "parentIds": ["MONDO_0019942"], "name": 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["MONDO_0017262"], "name": "congenital reticular ichthyosiform erythroderma"} +{"id": "MONDO_0012206", "parentIds": ["MONDO_0022800", "MONDO_0016761"], "name": "spondyloepiphyseal dysplasia with metatarsal shortening"} +{"id": "MONDO_0012208", "parentIds": ["MONDO_0017266"], "name": "congenital reticular ichthyosiform erythroderma"} {"id": "MONDO_0012209", "parentIds": ["MONDO_0015160"], "name": "branchiogenic deafness syndrome"} {"id": "MONDO_0012211", "parentIds": ["MONDO_0017749", "EFO_0005545"], "name": "MPDU1-congenital disorder of glycosylation"} -{"id": "MONDO_0012213", "parentIds": ["MONDO_0015089"], "name": "hereditary spastic paraplegia 26"} -{"id": "MONDO_0012215", "parentIds": ["MONDO_0002320", "MONDO_0018943", "MONDO_0015151", "MONDO_0016201", "MONDO_0016108"], "name": "myofibrillar myopathy 3"} -{"id": "MONDO_0012216", "parentIds": ["MONDO_0020249", "MONDO_0020238", "MONDO_0019216", "MONDO_0044203"], "name": "foveal hypoplasia - optic nerve decussation defect - anterior 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"parentIds": ["MONDO_0018013"], "name": "complement factor H deficiency"} +{"id": "MONDO_0012350", "parentIds": ["MONDO_0018013", "EFO_0004128"], "name": "complement factor H deficiency"} {"id": "MONDO_0012351", "parentIds": ["MONDO_0008512"], "name": "zygodactyly type 1"} +{"id": "MONDO_0012353", "parentIds": ["MONDO_0001115"], "name": "erythrocytosis, familial, 3"} {"id": "MONDO_0012354", "parentIds": ["MONDO_0000009", "MONDO_0021181"], "name": "platelet-type bleeding disorder 8"} {"id": "MONDO_0012359", "parentIds": ["MONDO_0017855"], "name": "combined immunodeficiency due to partial RAG1 deficiency"} {"id": "MONDO_0012363", "parentIds": ["MONDO_0019200"], "name": "retinitis pigmentosa 32"} +{"id": "MONDO_0012374", "parentIds": ["EFO_0000508"], "name": "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia"} {"id": "MONDO_0012381", "parentIds": ["MONDO_0017182"], "name": "hyperinsulinism due to INSR deficiency"} {"id": "MONDO_0012382", "parentIds": ["MONDO_0015624"], "name": 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"parentIds": ["MONDO_0020145"], "name": "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome"} +{"id": "MONDO_0012739", "parentIds": ["MONDO_0024458"], "name": "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome"} {"id": "MONDO_0012740", "parentIds": ["MONDO_0018923"], "name": "chromosome 22q11.2 deletion syndrome, distal"} +{"id": "MONDO_0012742", "parentIds": ["MONDO_0015263"], "name": "Brugada syndrome 3"} +{"id": "MONDO_0012745", "parentIds": ["MONDO_0016333"], "name": "dilated cardiomyopathy 1Z"} +{"id": "MONDO_0012746", "parentIds": ["MONDO_0016333"], "name": "dilated cardiomyopathy 2A"} {"id": "MONDO_0012747", "parentIds": ["MONDO_0017688", "MONDO_0020585", "MONDO_0003689"], "name": "glycogen storage disease due to aldolase A deficiency"} {"id": "MONDO_0012750", "parentIds": ["MONDO_0015168"], "name": "lethal arthrogryposis-anterior horn cell disease syndrome"} {"id": "MONDO_0012755", "parentIds": ["MONDO_0016227"], "name": "episodic ataxia type 7"} {"id": "MONDO_0012756", "parentIds": ["MONDO_0016894"], "name": "proximal 16p11.2 microdeletion syndrome"} {"id": "MONDO_0012757", "parentIds": ["MONDO_0017015", "MONDO_0044200"], "name": "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"} {"id": "MONDO_0012761", "parentIds": ["MONDO_0016954"], "name": "chromosome 3q29 microduplication syndrome"} -{"id": "MONDO_0012766", "parentIds": ["MONDO_0015088"], "name": "hereditary spastic paraplegia 37"} +{"id": "MONDO_0012766", "parentIds": ["MONDO_0015149"], "name": "hereditary spastic paraplegia 37"} +{"id": "MONDO_0012767", "parentIds": ["EFO_0001365"], "name": "age related macular degeneration 11"} {"id": "MONDO_0012774", "parentIds": ["MONDO_0015159", "MONDO_0002320", "MONDO_0016913"], "name": "chromosome 15q13.3 microdeletion syndrome"} +{"id": "MONDO_0012775", "parentIds": ["MONDO_0100241"], "name": "thrombocytopenia 4"} {"id": "MONDO_0012783", "parentIds": ["MONDO_0017740", "EFO_0005545", "MONDO_0015327"], "name": "RFT1-congenital disorder of glycosylation"} {"id": "MONDO_0012784", "parentIds": ["MONDO_0015244", "MONDO_0018151"], "name": "autosomal recessive ataxia due to ubiquinone deficiency"} {"id": "MONDO_0012786", "parentIds": ["MONDO_0000426", "MONDO_0017706"], "name": "juvenile cataract-microcornea-renal glucosuria syndrome"} -{"id": "MONDO_0012787", "parentIds": ["MONDO_0018117", "MONDO_0015089", "MONDO_0015905"], "name": "hereditary spastic paraplegia 39"} -{"id": "MONDO_0012789", "parentIds": ["MONDO_0000478", "MONDO_0018329", "MONDO_0021095"], "name": "dystonia 16"} +{"id": "MONDO_0012787", "parentIds": ["MONDO_0018117", "MONDO_0015150", "MONDO_0015905"], "name": "hereditary spastic paraplegia 39"} +{"id": "MONDO_0012789", "parentIds": ["MONDO_0021095", "MONDO_0020065", "MONDO_0000478"], "name": "dystonia 16"} {"id": "MONDO_0012791", "parentIds": ["MONDO_0016796"], "name": "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"} {"id": "MONDO_0012792", "parentIds": ["MONDO_0016796"], "name": "mitochondrial DNA depletion syndrome 8a"} {"id": "MONDO_0012793", "parentIds": ["MONDO_0009071"], "name": "hypouricemia, renal, 2"} -{"id": "MONDO_0012794", "parentIds": ["MONDO_0015770", "MONDO_0018762", "MONDO_0021034"], "name": "ANE syndrome"} +{"id": "MONDO_0012794", "parentIds": ["MONDO_0015770", "EFO_0010285", "MONDO_0018762"], "name": "ANE syndrome"} +{"id": "MONDO_0012796", "parentIds": ["MONDO_0019200"], "name": "retinitis pigmentosa 41"} {"id": "MONDO_0012799", "parentIds": ["MONDO_0024573"], "name": "hypertrophic cardiomyopathy 11"} {"id": "MONDO_0012802", "parentIds": ["MONDO_0016073"], "name": "oculoauricular syndrome"} {"id": "MONDO_0012803", "parentIds": ["MONDO_0017706"], "name": "diarrhea-vomiting due to trehalase deficiency"} @@ -5559,20 +7330,27 @@ {"id": "MONDO_0012805", "parentIds": ["MONDO_0000188", "MONDO_0015427"], "name": "childhood onset GLUT1 deficiency syndrome 2"} {"id": "MONDO_0012806", "parentIds": ["MONDO_0010293"], "name": "ectodermal dysplasia and immunodeficiency 2"} {"id": "MONDO_0012807", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex 5C, with pyloric atresia"} +{"id": "MONDO_0012808", "parentIds": ["MONDO_0016333"], "name": "dilated cardiomyopathy 1AA"} +{"id": "MONDO_0012812", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy, 4"} {"id": "MONDO_0012815", "parentIds": ["MONDO_0020247", "MONDO_0100137"], "name": "Coats plus syndrome"} +{"id": "MONDO_0012820", "parentIds": ["MONDO_0015356"], "name": "colorectal cancer, susceptibility to, 3"} {"id": "MONDO_0012824", "parentIds": ["MONDO_0017226"], "name": "hypomyelinating leukodystrophy 4"} {"id": "MONDO_0012825", "parentIds": ["EFO_1001968"], "name": "extraskeletal myxoid chondrosarcoma"} {"id": "MONDO_0012830", "parentIds": ["MONDO_0016909"], "name": "chromosome 10q23 deletion syndrome"} {"id": "MONDO_0012833", "parentIds": ["MONDO_0000426", "MONDO_0015338"], "name": "Crouzon syndrome-acanthosis nigricans syndrome"} +{"id": "MONDO_0012850", "parentIds": ["MONDO_0100191", "MONDO_0000079", "MONDO_0001343"], "name": "hypophosphatemic nephrolithiasis/osteoporosis 1"} +{"id": "MONDO_0012851", "parentIds": ["MONDO_0100191", "MONDO_0000079", "MONDO_0001343"], "name": "hypophosphatemic nephrolithiasis/osteoporosis 2"} {"id": "MONDO_0012853", "parentIds": ["MONDO_0015161", "MONDO_0019287"], "name": "Fontaine progeroid syndrome"} {"id": "MONDO_0012854", "parentIds": ["EFO_0000508"], "name": "bilateral microtia-deafness-cleft palate syndrome"} {"id": "MONDO_0012856", "parentIds": ["MONDO_0000426"], "name": "Birk-Barel syndrome"} {"id": "MONDO_0012858", "parentIds": ["MONDO_0003689", "MONDO_0020127"], "name": "primary CD59 deficiency"} -{"id": "MONDO_0012859", "parentIds": ["MONDO_0015132", "MONDO_0019026"], "name": "autosomal recessive osteopetrosis 7"} +{"id": "MONDO_0012859", "parentIds": ["MONDO_0019026", "EFO_0000540"], "name": "autosomal recessive osteopetrosis 7"} {"id": "MONDO_0012864", "parentIds": ["MONDO_0016901", "MONDO_0100147"], "name": "chromosome 2q32-q33 deletion syndrome"} -{"id": "MONDO_0012866", "parentIds": ["MONDO_0017915"], "name": "hereditary spastic paraplegia 35"} +{"id": "MONDO_0012865", "parentIds": ["EFO_0000508"], "name": "Pseudofolliculitis barbae"} +{"id": "MONDO_0012866", "parentIds": ["MONDO_0019064"], "name": "hereditary spastic paraplegia 35"} {"id": "MONDO_0012867", "parentIds": ["MONDO_0015087"], "name": "hereditary spastic paraplegia 38"} {"id": "MONDO_0012868", "parentIds": ["MONDO_0000426", "MONDO_0019144"], "name": "thrombophilia due to protein S deficiency, autosomal dominant"} +{"id": "MONDO_0012871", "parentIds": ["MONDO_0013372", "MONDO_0002441"], "name": "Jervell and Lange-Nielsen syndrome 2"} {"id": "MONDO_0012873", "parentIds": ["MONDO_0007526", "MONDO_0016761"], "name": "Ehlers-Danlos syndrome, spondylocheirodysplastic type"} {"id": "MONDO_0012876", "parentIds": ["MONDO_0100240"], "name": "heparin cofactor 2 deficiency"} {"id": "MONDO_0012880", "parentIds": ["MONDO_0018800"], "name": "hypogonadotropic hypogonadism 5 with or without anosmia"} @@ -5580,52 +7358,66 @@ {"id": "MONDO_0012892", "parentIds": ["MONDO_0023603", "MONDO_0019755"], "name": "bone fragility with contractures, arterial rupture, and deafness"} {"id": "MONDO_0012895", "parentIds": ["MONDO_0015990"], "name": "torsion dystonia 17"} {"id": "MONDO_0012897", "parentIds": ["MONDO_0000429", "MONDO_0009332", "MONDO_0021181", "MONDO_0002243", "MONDO_0020587"], "name": "congenital factor XI deficiency"} +{"id": "MONDO_0012900", "parentIds": ["MONDO_0016340"], "name": "cardiomyopathy, familial restrictive, 3"} {"id": "MONDO_0012901", "parentIds": ["MONDO_0044744", "MONDO_0002242", "MONDO_0002243", "MONDO_0021181"], "name": "inherited prekallikrein deficiency"} -{"id": "MONDO_0012905", "parentIds": ["MONDO_0019046"], "name": "hypomyelinating leukodystrophy 6"} +{"id": "MONDO_0012905", "parentIds": ["MONDO_0019046", "MONDO_0800470"], "name": "hypomyelinating leukodystrophy 6"} {"id": "MONDO_0012907", "parentIds": ["EFO_0003966", "MONDO_0019755"], "name": "blindness - scoliosis - arachnodactyly syndrome"} {"id": "MONDO_0012909", "parentIds": ["EFO_0000508"], "name": "skeletal defects, genital hypoplasia, and intellectual disability"} -{"id": "MONDO_0012911", "parentIds": ["MONDO_0019992", "MONDO_0019695", "MONDO_0016565", "MONDO_0018384", "MONDO_0018379"], "name": "pseudohypoparathyroidism type 1C"} -{"id": "MONDO_0012912", "parentIds": ["MONDO_0016565", "MONDO_0019992", "MONDO_0019695"], "name": "pseudopseudohypoparathyroidism"} +{"id": "MONDO_0012911", "parentIds": ["MONDO_0019992", "MONDO_0800466", "MONDO_0019695", "MONDO_0018383", "MONDO_0018379"], "name": "pseudohypoparathyroidism type 1C"} +{"id": "MONDO_0012912", "parentIds": ["MONDO_0019992", "MONDO_0019695", "MONDO_0800466"], "name": "pseudopseudohypoparathyroidism"} +{"id": "MONDO_0012913", "parentIds": ["MONDO_0008681"], "name": "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome"} {"id": "MONDO_0012914", "parentIds": ["MONDO_0022756"], "name": "chromosome 1q21.1 deletion syndrome"} {"id": "MONDO_0012915", "parentIds": ["MONDO_0016952"], "name": "chromosome 1q21.1 duplication syndrome"} {"id": "MONDO_0012916", "parentIds": ["MONDO_0016884"], "name": "chromosome 2p16.1-p15 deletion syndrome"} +{"id": "MONDO_0012923", "parentIds": ["MONDO_0018883", "EFO_1000681"], "name": "congenital generalized lipodystrophy type 3"} {"id": "MONDO_0012927", "parentIds": ["MONDO_0022756", "MONDO_0016296"], "name": "chromosome 1q41-q42 deletion syndrome"} -{"id": "MONDO_0012928", "parentIds": ["MONDO_0015088"], "name": "hereditary spastic paraplegia 42"} +{"id": "MONDO_0012928", "parentIds": ["MONDO_0015149"], "name": "hereditary spastic paraplegia 42"} {"id": "MONDO_0012929", "parentIds": ["MONDO_0019952"], "name": "Compton-North congenital myopathy"} {"id": "MONDO_0012930", "parentIds": ["MONDO_0028226"], "name": "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"} {"id": "MONDO_0012941", "parentIds": ["MONDO_0016542"], "name": "inflammatory bowel disease 25"} {"id": "MONDO_0012944", "parentIds": ["MONDO_0018050", "MONDO_0019713"], "name": "chromosome 17P13.3, telomeric, duplication syndrome"} +{"id": "MONDO_0012945", "parentIds": ["EFO_0001356"], "name": "amyotrophic lateral sclerosis type 11"} +{"id": "MONDO_0012947", "parentIds": ["MONDO_0100172"], "name": "intellectual disability, autosomal dominant 4"} {"id": "MONDO_0012948", "parentIds": ["MONDO_0015159", "MONDO_0011119", "MONDO_0016888"], "name": "chromosome 6pter-p24 deletion syndrome"} +{"id": "MONDO_0012953", "parentIds": ["MONDO_0015356"], "name": "colorectal cancer, susceptibility to, 10"} +{"id": "MONDO_0012960", "parentIds": ["MONDO_0100172"], "name": "intellectual disability, autosomal dominant 5"} {"id": "MONDO_0012964", "parentIds": ["MONDO_0016913"], "name": "chromosome 15q26-qter deletion syndrome"} -{"id": "MONDO_0012967", "parentIds": ["MONDO_0004139"], "name": "hemolytic anemia due to adenylate kinase deficiency"} -{"id": "MONDO_0012980", "parentIds": ["MONDO_0018454", "MONDO_0018731", "MONDO_0043009"], "name": "endocrine-cerebro-osteodysplasia syndrome"} +{"id": "MONDO_0012967", "parentIds": ["MONDO_0003689"], "name": "hemolytic anemia due to adenylate kinase deficiency"} +{"id": "MONDO_0012975", "parentIds": ["MONDO_0019587"], "name": "autosomal dominant nonsyndromic hearing loss 3B"} +{"id": "MONDO_0012977", "parentIds": ["MONDO_0019588"], "name": "autosomal recessive nonsyndromic hearing loss 1B"} +{"id": "MONDO_0012980", "parentIds": ["EFO_0000508", "EFO_0002461", "MONDO_0043009"], "name": "endocrine-cerebro-osteodysplasia syndrome"} +{"id": "MONDO_0012981", "parentIds": ["MONDO_0019350"], "name": "hereditary spherocytosis type 4"} {"id": "MONDO_0012982", "parentIds": ["MONDO_0016227", "MONDO_0019216"], "name": "episodic ataxia type 6"} -{"id": "MONDO_0012984", "parentIds": ["MONDO_0020127", "MONDO_0020240", "EFO_1000017", "MONDO_0018117", "MONDO_0015905"], "name": "PHARC syndrome"} -{"id": "MONDO_0012986", "parentIds": ["MONDO_0017091"], "name": "bilateral parasagittal parieto-occipital polymicrogyria"} +{"id": "MONDO_0012983", "parentIds": ["MONDO_0015993"], "name": "cone-rod dystrophy 12"} +{"id": "MONDO_0012984", "parentIds": ["MONDO_0020127", "EFO_1000017", "MONDO_0018117", "MONDO_0015905"], "name": "PHARC syndrome"} +{"id": "MONDO_0012986", "parentIds": ["MONDO_0017091", "MONDO_0100545"], "name": "bilateral parasagittal parieto-occipital polymicrogyria"} {"id": "MONDO_0012988", "parentIds": ["MONDO_0018800"], "name": "hypogonadotropic hypogonadism 6 with or without anosmia"} {"id": "MONDO_0012991", "parentIds": ["EFO_1000017"], "name": "Kahrizi syndrome"} -{"id": "MONDO_0012992", "parentIds": ["MONDO_0019403", "MONDO_0018230", "MONDO_0009068", "MONDO_0001684"], "name": "pancreatic insufficiency-anemia-hyperostosis syndrome"} -{"id": "MONDO_0012994", "parentIds": ["MONDO_0045014", "MONDO_0016812", "MONDO_0017756"], "name": "dopa-responsive dystonia due to sepiapterin reductase deficiency"} +{"id": "MONDO_0012992", "parentIds": ["MONDO_0019403", "MONDO_0018230", "MONDO_0009068", "MONDO_0016387", "MONDO_0001684"], "name": "pancreatic insufficiency-anemia-hyperostosis syndrome"} +{"id": "MONDO_0012994", "parentIds": ["MONDO_0045014", "MONDO_0044807", "MONDO_0016812"], "name": "dopa-responsive dystonia due to sepiapterin reductase deficiency"} {"id": "MONDO_0012996", "parentIds": ["MONDO_0045018", "MONDO_0000456"], "name": "AGAT deficiency"} +{"id": "MONDO_0012997", "parentIds": ["EFO_0000508"], "name": "cholestasis-pigmentary retinopathy-cleft palate syndrome"} {"id": "MONDO_0012999", "parentIds": ["MONDO_0045018", "MONDO_0000456"], "name": "guanidinoacetate methyltransferase deficiency"} -{"id": "MONDO_0013000", "parentIds": ["MONDO_0002520"], "name": "porphyria due to ALA dehydratase deficiency"} -{"id": "MONDO_0013003", "parentIds": ["MONDO_0015497"], "name": "isolated congenital hypoglossia/aglossia"} +{"id": "MONDO_0013000", "parentIds": ["MONDO_0002520", "MONDO_0019142"], "name": "porphyria due to ALA dehydratase deficiency"} +{"id": "MONDO_0013003", "parentIds": ["MONDO_0001165", "MONDO_0017139"], "name": "isolated congenital hypoglossia/aglossia"} {"id": "MONDO_0013005", "parentIds": ["MONDO_0015962", "EFO_0009671"], "name": "EAST syndrome"} {"id": "MONDO_0013006", "parentIds": ["MONDO_0000050"], "name": "isolated growth hormone deficiency type IB"} {"id": "MONDO_0013007", "parentIds": ["MONDO_0015695"], "name": "combined immunodeficiency due to ORAI1 deficiency"} {"id": "MONDO_0013008", "parentIds": ["MONDO_0015695"], "name": "combined immunodeficiency due to STIM1 deficiency"} -{"id": "MONDO_0013014", "parentIds": ["MONDO_0100510", "MONDO_0018239"], "name": "spondyloepimetaphyseal dysplasia, aggrecan type"} -{"id": "MONDO_0013016", "parentIds": ["MONDO_0017570", "MONDO_0019026"], "name": "leukocyte adhesion deficiency 3"} +{"id": "MONDO_0013011", "parentIds": ["EFO_1000825"], "name": "atrial septal defect 5"} +{"id": "MONDO_0013014", "parentIds": ["MONDO_0100510"], "name": "spondyloepimetaphyseal dysplasia, aggrecan type"} +{"id": "MONDO_0013016", "parentIds": ["MONDO_0019026", "MONDO_0017570"], "name": "leukocyte adhesion deficiency 3"} {"id": "MONDO_0013017", "parentIds": ["MONDO_0018631"], "name": "hypotrichosis 5"} -{"id": "MONDO_0013021", "parentIds": ["MONDO_0023603", "MONDO_0015135", "MONDO_0017954"], "name": "sterile multifocal osteomyelitis with periostitis and pustulosis"} +{"id": "MONDO_0013021", "parentIds": ["MONDO_0009813"], "name": "sterile multifocal osteomyelitis with periostitis and pustulosis"} {"id": "MONDO_0013025", "parentIds": ["MONDO_0016905"], "name": "chromosome 6q24-q25 deletion syndrome"} {"id": "MONDO_0013026", "parentIds": ["MONDO_0020212", "MONDO_0000763"], "name": "subepithelial mucinous corneal dystrophy"} {"id": "MONDO_0013027", "parentIds": ["MONDO_0020213"], "name": "posterior amorphous corneal dystrophy"} {"id": "MONDO_0013028", "parentIds": ["MONDO_0009637", "MONDO_0019236"], "name": "adenosine monophosphate deaminase deficiency"} +{"id": "MONDO_0013030", "parentIds": ["MONDO_0016333"], "name": "dilated cardiomyopathy 1BB"} {"id": "MONDO_0013034", "parentIds": ["MONDO_0018865"], "name": "keratosis palmoplantaris striata 2"} {"id": "MONDO_0013035", "parentIds": ["MONDO_0015375"], "name": "orofaciodigital syndrome XI"} {"id": "MONDO_0013036", "parentIds": ["MONDO_0015159"], "name": "Zechi-Ceide syndrome"} -{"id": "MONDO_0013038", "parentIds": ["MONDO_0023603", "MONDO_0019296", "MONDO_0000631", "MONDO_0015950", "MONDO_0024499", "MONDO_0800091", "MONDO_0035162", "EFO_0009675", "MONDO_0000629", "MONDO_0016229"], "name": "CLOVES syndrome"} +{"id": "MONDO_0013038", "parentIds": ["MONDO_0019296", "EFO_0009675", "MONDO_0100118"], "name": "CLOVES syndrome"} {"id": "MONDO_0013040", "parentIds": ["MONDO_0035290"], "name": "atypical hemolytic-uremic syndrome with MCP/CD46 anomaly"} {"id": "MONDO_0013041", "parentIds": ["MONDO_0035290"], "name": "atypical hemolytic-uremic syndrome with I factor anomaly"} {"id": "MONDO_0013042", "parentIds": ["MONDO_0035290"], "name": "atypical hemolytic-uremic syndrome with B factor anomaly"} @@ -5633,9 +7425,8 @@ {"id": "MONDO_0013044", "parentIds": ["MONDO_0035290"], "name": "atypical hemolytic-uremic syndrome with thrombomodulin anomaly"} {"id": "MONDO_0013046", "parentIds": ["MONDO_0017688", "MONDO_0002412"], "name": "glycogen storage disease due to muscle beta-enolase deficiency"} {"id": "MONDO_0013047", "parentIds": ["MONDO_0017688", "MONDO_0002412"], "name": "glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"} -{"id": "MONDO_0013048", "parentIds": ["MONDO_0017241"], "name": "hereditary spastic paraplegia 50"} -{"id": "MONDO_0013049", "parentIds": ["EFO_0005545", "MONDO_0017749", "MONDO_0016333", "MONDO_0018276"], "name": "DPM3-congenital disorder of glycosylation"} -{"id": "MONDO_0013050", "parentIds": ["MONDO_0018731", "MONDO_0043009"], "name": "lethal polymalformative syndrome, Boissel type"} +{"id": "MONDO_0013049", "parentIds": ["MONDO_0018276", "EFO_0005545", "MONDO_0017749"], "name": "DPM3-congenital disorder of glycosylation"} +{"id": "MONDO_0013050", "parentIds": ["EFO_0000508", "MONDO_0043009"], "name": "lethal polymalformative syndrome, Boissel type"} {"id": "MONDO_0013051", "parentIds": ["MONDO_0019573", "MONDO_0800064"], "name": "autosomal recessive cutis laxa type 2B"} {"id": "MONDO_0013053", "parentIds": ["EFO_0003777", "MONDO_0015161"], "name": "microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type"} {"id": "MONDO_0013056", "parentIds": ["MONDO_0100455", "MONDO_0016801"], "name": "developmental and epileptic encephalopathy, 39"} @@ -5643,80 +7434,111 @@ {"id": "MONDO_0013060", "parentIds": ["MONDO_0008199", "MONDO_0017998"], "name": "autosomal recessive Parkinson disease 14"} {"id": "MONDO_0013061", "parentIds": ["MONDO_0018943"], "name": "myofibrillar myopathy 6"} {"id": "MONDO_0013062", "parentIds": ["MONDO_0019171"], "name": "long QT syndrome 12"} +{"id": "MONDO_0013065", "parentIds": ["MONDO_0019852"], "name": "premature ovarian failure 7"} +{"id": "MONDO_0013066", "parentIds": ["MONDO_0010765", "MONDO_0016674"], "name": "46,XY sex reversal 3"} +{"id": "MONDO_0013067", "parentIds": ["MONDO_0005129"], "name": "cataract 34 multiple types"} {"id": "MONDO_0013069", "parentIds": ["MONDO_0016387", "MONDO_0043878"], "name": "autosomal recessive optic atrophy, OPA7 type"} -{"id": "MONDO_0013074", "parentIds": ["MONDO_0023603", "MONDO_0019296", "EFO_1000728", "MONDO_0015950", "MONDO_0017127", "MONDO_0021440"], "name": "encephalocraniocutaneous lipomatosis"} +{"id": "MONDO_0013070", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 7"} +{"id": "MONDO_0013071", "parentIds": ["MONDO_0020336"], "name": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant"} +{"id": "MONDO_0013074", "parentIds": ["MONDO_0023603", "MONDO_0019296", "MONDO_0100118", "EFO_1000728"], "name": "encephalocraniocutaneous lipomatosis"} {"id": "MONDO_0013081", "parentIds": ["MONDO_0016537", "MONDO_0021094"], "name": "lymphoproliferative syndrome 1"} -{"id": "MONDO_0013082", "parentIds": ["MONDO_0015246", "MONDO_0021189"], "name": "Hirschsprung disease-ganglioneuroblastoma syndrome"} +{"id": "MONDO_0013082", "parentIds": ["MONDO_0021189"], "name": "Hirschsprung disease-ganglioneuroblastoma syndrome"} +{"id": "MONDO_0013083", "parentIds": ["MONDO_0015356"], "name": "neuroblastoma, susceptibility to, 3"} +{"id": "MONDO_0013088", "parentIds": ["MONDO_0015356"], "name": "follicular lymphoma, susceptibility to, 1"} {"id": "MONDO_0013090", "parentIds": ["MONDO_0016917", "MONDO_0015159"], "name": "chromosome 19q13.11 deletion syndrome"} -{"id": "MONDO_0013099", "parentIds": ["MONDO_0015770", "EFO_0001380", "MONDO_0002320"], "name": "combined pituitary hormone deficiencies, genetic form"} +{"id": "MONDO_0013092", "parentIds": ["MONDO_0100242"], "name": "glioma susceptibility 2"} +{"id": "MONDO_0013093", "parentIds": ["MONDO_0100242"], "name": "glioma susceptibility 3"} +{"id": "MONDO_0013099", "parentIds": ["MONDO_0100545", "MONDO_0015770", "EFO_0001380", "MONDO_0002320"], "name": "combined pituitary hormone deficiencies, genetic form"} {"id": "MONDO_0013110", "parentIds": ["MONDO_0017313", "EFO_0005596", "MONDO_0024237"], "name": "neurodegenerative syndrome due to cerebral folate transport deficiency"} -{"id": "MONDO_0013111", "parentIds": ["MONDO_0000023", "MONDO_0016387"], "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"} +{"id": "MONDO_0013111", "parentIds": ["MONDO_0000023", "MONDO_0019542", "MONDO_0016387"], "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"} +{"id": "MONDO_0013112", "parentIds": ["MONDO_0018956"], "name": "bronchiectasis with or without elevated sweat chloride 3"} {"id": "MONDO_0013115", "parentIds": ["MONDO_0100237"], "name": "RIN2 syndrome"} {"id": "MONDO_0013116", "parentIds": ["MONDO_0009637", "MONDO_0016387"], "name": "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"} {"id": "MONDO_0013117", "parentIds": ["MONDO_0008003"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5"} {"id": "MONDO_0013118", "parentIds": ["EFO_0008499", "MONDO_0015161", "MONDO_0015327"], "name": "Nijmegen breakage syndrome-like disorder"} {"id": "MONDO_0013125", "parentIds": ["MONDO_0019716"], "name": "CLAPO syndrome"} -{"id": "MONDO_0013127", "parentIds": ["MONDO_0015246", "MONDO_0018770"], "name": "asphyxiating thoracic dystrophy 3"} +{"id": "MONDO_0013127", "parentIds": ["MONDO_0018770"], "name": "asphyxiating thoracic dystrophy 3"} {"id": "MONDO_0013128", "parentIds": ["MONDO_0000608", "MONDO_0015962"], "name": "familial juvenile hyperuricemic nephropathy type 2"} +{"id": "MONDO_0013130", "parentIds": ["MONDO_0000062", "MONDO_0016764"], "name": "isolated microphthalmia 4"} {"id": "MONDO_0013131", "parentIds": ["EFO_1001496"], "name": "polycystic kidney disease 2"} {"id": "MONDO_0013132", "parentIds": ["MONDO_0015087"], "name": "hereditary spastic paraplegia 36"} {"id": "MONDO_0013136", "parentIds": ["MONDO_0004907"], "name": "hereditary hypotrichosis with recurrent skin vesicles"} +{"id": "MONDO_0013137", "parentIds": ["MONDO_0008982"], "name": "choroidal dystrophy, central areolar 2"} {"id": "MONDO_0013139", "parentIds": ["MONDO_0008742"], "name": "neutropenia, severe congenital, 2, autosomal dominant"} -{"id": "MONDO_0013143", "parentIds": ["MONDO_0018374", "MONDO_0100240", "MONDO_0018384"], "name": "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"} -{"id": "MONDO_0013144", "parentIds": 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"MONDO_0018939", "MONDO_0000171"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2"} -{"id": "MONDO_0013155", "parentIds": ["MONDO_0700068", "MONDO_0018277", "MONDO_0000172"], "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3"} -{"id": "MONDO_0013156", "parentIds": ["MONDO_0018279", "MONDO_0700067", "MONDO_0000172"], "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4"} -{"id": "MONDO_0013157", "parentIds": ["MONDO_0000171", "MONDO_0018939"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5"} +{"id": "MONDO_0013155", "parentIds": ["MONDO_0700068", "MONDO_0000172"], "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3"} +{"id": "MONDO_0013156", "parentIds": ["MONDO_0700067", "MONDO_0000172"], "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4"} +{"id": "MONDO_0013157", "parentIds": ["MONDO_0700066", "MONDO_0000171", "MONDO_0018939", "MONDO_0016156"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5"} {"id": "MONDO_0013158", "parentIds": ["MONDO_0000171", "MONDO_0018939"], "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6"} {"id": "MONDO_0013159", "parentIds": ["MONDO_0000172", "MONDO_0700070"], "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1"} {"id": "MONDO_0013160", "parentIds": ["MONDO_0700071", "MONDO_0000172"], "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2"} -{"id": "MONDO_0013161", "parentIds": ["MONDO_0017745", "MONDO_0015152", "MONDO_0000173", "MONDO_0700068"], "name": "autosomal recessive limb-girdle muscular dystrophy type 2O"} -{"id": "MONDO_0013162", "parentIds": 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cardiomyopathy 1DD"} {"id": "MONDO_0013169", "parentIds": ["MONDO_0016942", "MONDO_0015159"], "name": "chromosome 5p13 duplication syndrome"} {"id": "MONDO_0013170", "parentIds": ["EFO_1000017", "MONDO_0100237"], "name": "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"} {"id": "MONDO_0013171", "parentIds": ["MONDO_0019236"], "name": "purine nucleoside phosphorylase deficiency"} {"id": "MONDO_0013172", "parentIds": ["MONDO_0000904"], "name": "polymicrogyria with optic nerve hypoplasia"} {"id": "MONDO_0013173", "parentIds": ["MONDO_0019502"], "name": "intellectual disability, autosomal recessive 13"} -{"id": "MONDO_0013176", "parentIds": ["MONDO_0018096", "MONDO_0017270"], "name": "Weill-Marchesani 4 syndrome, recessive"} -{"id": "MONDO_0013177", "parentIds": ["MONDO_0019950", "MONDO_0016150"], "name": "congenital muscular dystrophy due to integrin alpha-7 deficiency"} +{"id": "MONDO_0013175", "parentIds": ["MONDO_0019200"], "name": "retinitis pigmentosa 50"} +{"id": "MONDO_0013176", "parentIds": ["MONDO_0018096"], "name": "Weill-Marchesani 4 syndrome, recessive"} +{"id": "MONDO_0013177", "parentIds": ["MONDO_0019950"], "name": "congenital muscular dystrophy due to integrin alpha-7 deficiency"} {"id": "MONDO_0013178", "parentIds": ["MONDO_0019950"], "name": "congenital muscular dystrophy due to LMNA mutation"} -{"id": "MONDO_0013179", "parentIds": ["MONDO_0015089"], "name": "hereditary spastic paraplegia 44"} +{"id": "MONDO_0013179", "parentIds": ["MONDO_0015150"], "name": "hereditary spastic paraplegia 44"} {"id": "MONDO_0013182", "parentIds": ["MONDO_0015159", "MONDO_0016950"], "name": "chromosome 17p13.3 duplication syndrome"} -{"id": "MONDO_0013184", "parentIds": ["MONDO_0015182", "MONDO_0019126", "MONDO_0045032"], "name": "congenital diarrhea 5 with tufting enteropathy"} -{"id": "MONDO_0013187", "parentIds": ["MONDO_0018029"], "name": "factor XIII, A subunit, deficiency of"} +{"id": "MONDO_0013184", "parentIds": ["MONDO_0045032"], "name": "congenital diarrhea 5 with tufting enteropathy"} +{"id": "MONDO_0013186", "parentIds": ["MONDO_0018997"], "name": "Noonan syndrome 6"} +{"id": "MONDO_0013187", "parentIds": ["MONDO_0021181", "MONDO_0018029"], "name": "factor XIII, A subunit, deficiency of"} +{"id": "MONDO_0013189", "parentIds": ["MONDO_0001162", "EFO_0000508"], "name": "trichotillomania"} +{"id": "MONDO_0013191", "parentIds": ["MONDO_0005363"], "name": "focal segmental glomerulosclerosis 5"} {"id": "MONDO_0013195", "parentIds": ["MONDO_0024573"], "name": "hypertrophic cardiomyopathy 13"} {"id": "MONDO_0013196", "parentIds": ["MONDO_0018630"], "name": "Lynch syndrome 8"} -{"id": "MONDO_0013208", "parentIds": ["MONDO_0017766", "MONDO_0021095", "MONDO_0000214"], "name": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome"} +{"id": "MONDO_0013197", "parentIds": ["MONDO_0024573"], "name": "hypertrophic cardiomyopathy 14"} +{"id": "MONDO_0013198", "parentIds": ["MONDO_0016333"], "name": "dilated cardiomyopathy 1EE"} +{"id": "MONDO_0013200", "parentIds": ["MONDO_0024573"], "name": "hypertrophic cardiomyopathy 15"} +{"id": "MONDO_0013203", "parentIds": ["MONDO_0005321"], "name": "corneal dystrophy, Fuchs endothelial, 3"} +{"id": "MONDO_0013204", "parentIds": ["MONDO_0005321"], "name": "corneal dystrophy, Fuchs endothelial, 4"} +{"id": "MONDO_0013208", "parentIds": ["MONDO_0017766", "MONDO_0021095", "MONDO_0100545", "MONDO_0000214"], "name": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome"} +{"id": "MONDO_0013211", "parentIds": ["MONDO_0016333"], "name": "dilated cardiomyopathy 1FF"} {"id": "MONDO_0013212", "parentIds": ["MONDO_0018993"], "name": "Charcot-Marie-Tooth disease axonal type 2N"} +{"id": "MONDO_0013214", "parentIds": ["EFO_0000508"], "name": "bile acid malabsorption, primary, 1"} +{"id": "MONDO_0013219", "parentIds": ["MONDO_0800096", "MONDO_0017324"], "name": "hypophosphatemic rickets, autosomal recessive, 2"} {"id": "MONDO_0013220", "parentIds": ["MONDO_0019257"], "name": "hemochromatosis type 2B"} {"id": "MONDO_0013222", "parentIds": ["MONDO_0009685"], "name": "Miyoshi muscular dystrophy 3"} {"id": "MONDO_0013223", "parentIds": ["MONDO_0016763", "MONDO_0800080"], "name": "autosomal recessive spondylometaphyseal dysplasia, Megarbane type"} {"id": "MONDO_0013225", "parentIds": ["EFO_1000681"], "name": "congenital generalized lipodystrophy type 4"} -{"id": "MONDO_0013226", "parentIds": ["MONDO_0015160", "MONDO_0015823"], "name": "combined immunodeficiency with faciooculoskeletal anomalies"} -{"id": "MONDO_0013227", "parentIds": ["MONDO_0002243", "MONDO_0002242", "MONDO_0009332"], "name": "congenital plasminogen activator inhibitor type 1 deficiency"} -{"id": "MONDO_0013228", "parentIds": ["MONDO_0800075", "MONDO_0016761"], "name": "spondylo-megaepiphyseal-metaphyseal dysplasia"} +{"id": "MONDO_0013226", "parentIds": ["MONDO_0015160", "MONDO_0015131", "MONDO_0003778"], "name": "combined immunodeficiency with faciooculoskeletal anomalies"} +{"id": "MONDO_0013227", "parentIds": ["MONDO_0021181", "MONDO_0002243", "MONDO_0002242", "MONDO_0009332"], "name": "congenital plasminogen activator inhibitor type 1 deficiency"} +{"id": "MONDO_0013228", "parentIds": ["MONDO_0016761"], "name": "spondylo-megaepiphyseal-metaphyseal dysplasia"} {"id": "MONDO_0013232", "parentIds": ["MONDO_0016761"], "name": "brachydactylous dwarfism, Mseleni type"} {"id": "MONDO_0013233", "parentIds": ["MONDO_0100510"], "name": "spondyloepimetaphyseal dysplasia, Handigodu type"} {"id": "MONDO_0013238", "parentIds": ["MONDO_0016915"], "name": "chromosome 17q23.1-q23.2 deletion syndrome"} -{"id": "MONDO_0013239", "parentIds": ["MONDO_0015088"], "name": "hereditary spastic paraplegia 41"} +{"id": "MONDO_0013239", "parentIds": ["MONDO_0015149"], "name": "hereditary spastic paraplegia 41"} +{"id": "MONDO_0013240", "parentIds": ["MONDO_0018911"], "name": "maturity-onset diabetes of the young type 10"} {"id": "MONDO_0013241", "parentIds": ["MONDO_0019793"], "name": "spinocerebellar ataxia type 30"} -{"id": "MONDO_0013245", "parentIds": ["MONDO_0015159"], "name": "syndromic multisystem autoimmune disease due to ITCH deficiency"} +{"id": "MONDO_0013245", "parentIds": ["EFO_0000508", "MONDO_0015159"], "name": "syndromic multisystem autoimmune disease due to ITCH deficiency"} +{"id": "MONDO_0013247", "parentIds": ["MONDO_0007600"], "name": "Fanconi renotubular syndrome 2"} {"id": "MONDO_0013251", "parentIds": ["EFO_0000508"], "name": "Birbeck granule deficiency"} -{"id": "MONDO_0013252", "parentIds": ["MONDO_0015161"], "name": "Warsaw breakage syndrome"} -{"id": "MONDO_0013254", "parentIds": ["MONDO_0100062", "MONDO_0001149", "MONDO_0957008"], "name": "microcephaly, seizures, and developmental delay"} +{"id": "MONDO_0013252", "parentIds": ["MONDO_0015161", "EFO_0000508"], "name": "Warsaw breakage syndrome"} +{"id": "MONDO_0013254", "parentIds": ["MONDO_0100062", "MONDO_0001149"], "name": "microcephaly, seizures, and developmental delay"} {"id": "MONDO_0013256", "parentIds": ["MONDO_0016913", "MONDO_0015159"], "name": "chromosome 15q24 deletion syndrome"} -{"id": "MONDO_0013267", "parentIds": ["MONDO_0016894", "MONDO_0016565"], "name": "distal 16p11.2 microdeletion syndrome"} -{"id": "MONDO_0013268", "parentIds": ["MONDO_0800085", "MONDO_0016643", "MONDO_0021034"], "name": "frontonasal dysplasia with alopecia and genital anomaly"} -{"id": "MONDO_0013271", "parentIds": ["MONDO_0800085", "MONDO_0016643", "MONDO_0015334"], "name": "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"} +{"id": "MONDO_0013267", "parentIds": ["MONDO_0016894"], "name": "distal 16p11.2 microdeletion syndrome"} +{"id": "MONDO_0013268", "parentIds": ["MONDO_0016643", "EFO_0010285"], "name": "frontonasal dysplasia with alopecia and genital anomaly"} +{"id": "MONDO_0013271", "parentIds": ["MONDO_0016643"], "name": "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"} {"id": "MONDO_0013272", "parentIds": ["MONDO_0016912"], "name": "chromosome 14q11-q22 deletion syndrome"} {"id": "MONDO_0013273", "parentIds": ["MONDO_0016949"], "name": "chromosome 16p13.3 duplication syndrome"} {"id": "MONDO_0013275", "parentIds": ["MONDO_0017688", "EFO_1000641", "MONDO_0020585"], "name": "hemolytic anemia due to glucophosphate isomerase deficiency"} -{"id": "MONDO_0013276", "parentIds": ["EFO_0005809"], "name": "Reynolds syndrome"} +{"id": "MONDO_0013276", "parentIds": ["EFO_0005809", "EFO_0000508"], "name": "Reynolds syndrome"} +{"id": "MONDO_0013278", "parentIds": ["MONDO_0019313"], "name": "lymphatic malformation 3"} {"id": "MONDO_0013279", "parentIds": ["MONDO_0019171"], "name": "long QT syndrome 13"} {"id": "MONDO_0013281", "parentIds": ["EFO_0005546", "MONDO_0017750"], "name": "COG4-congenital disorder of glycosylation"} {"id": "MONDO_0013282", "parentIds": ["MONDO_0002273", "EFO_0000684"], "name": "alpha 1-antitrypsin deficiency"} @@ -5724,238 +7546,318 @@ {"id": "MONDO_0013286", "parentIds": ["MONDO_0015517"], "name": "immunodeficiency, common variable, 6"} {"id": "MONDO_0013291", "parentIds": ["MONDO_0100314"], "name": "glycogen storage disease XV"} {"id": "MONDO_0013292", "parentIds": ["MONDO_0016903"], "name": "chromosome 4q21 deletion syndrome"} +{"id": "MONDO_0013296", "parentIds": ["MONDO_0015688"], "name": "myeloid neoplasm associated with FGFR1 rearrangement"} {"id": "MONDO_0013297", "parentIds": ["MONDO_0015151"], "name": "autosomal dominant limb-girdle muscular dystrophy type 1H"} {"id": "MONDO_0013298", "parentIds": ["MONDO_0016967", "MONDO_0015159"], "name": "chromosome 17q21.31 duplication syndrome"} -{"id": "MONDO_0013300", "parentIds": ["MONDO_0015418"], "name": "commissural facial cleft"} +{"id": "MONDO_0013299", "parentIds": ["MONDO_0016905"], "name": "chromosome 6q11-q14 deletion syndrome"} +{"id": "MONDO_0013300", "parentIds": ["MONDO_0015411"], "name": "commissural facial cleft"} {"id": "MONDO_0013301", "parentIds": ["EFO_0009682", "MONDO_0019852"], "name": "aromatase deficiency"} {"id": "MONDO_0013302", "parentIds": ["MONDO_0019394", "MONDO_0019005"], "name": "nephronophthisis 11"} {"id": "MONDO_0013304", "parentIds": ["MONDO_0019565"], "name": "von Willebrand disease 2"} -{"id": "MONDO_0013306", "parentIds": ["MONDO_0044655", "MONDO_0000732"], "name": "combined oxidative phosphorylation defect type 7"} +{"id": "MONDO_0013306", "parentIds": ["MONDO_0000732"], "name": "combined oxidative phosphorylation defect type 7"} {"id": "MONDO_0013308", "parentIds": ["EFO_1001502"], "name": "CBL-related disorder"} -{"id": "MONDO_0013310", "parentIds": ["MONDO_0015327", "MONDO_0957024", "MONDO_0957025", "MONDO_0019593", "MONDO_0018479", "MONDO_0017969"], "name": "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"} +{"id": "MONDO_0013310", "parentIds": ["EFO_0000512", "MONDO_0018479"], "name": "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"} 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loss"} -{"id": "MONDO_0015007", "parentIds": ["MONDO_0016565", "MONDO_0015087"], "name": "spastic paraplegia, intellectual disability, nystagmus, and obesity;"} +{"id": "MONDO_0015007", "parentIds": ["MONDO_0015087"], "name": "spastic paraplegia, intellectual disability, nystagmus, and obesity"} {"id": "MONDO_0015009", "parentIds": ["MONDO_0019313", "MONDO_0700080"], "name": "lymphatic malformation 7"} {"id": "MONDO_0015010", "parentIds": ["MONDO_0011612"], "name": "atypical glycine encephalopathy"} +{"id": "MONDO_0015012", "parentIds": ["MONDO_0800088", "EFO_0000684", "MONDO_0015327", "MONDO_0015159", "MONDO_0100365"], "name": "mucopolysaccharidosis-plus syndrome"} {"id": "MONDO_0015014", "parentIds": ["EFO_0000508"], "name": "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness"} {"id": "MONDO_0015019", "parentIds": ["EFO_0000508"], "name": "Yao syndrome"} +{"id": "MONDO_0015020", "parentIds": ["MONDO_0019502"], "name": "intellectual disability, autosomal recessive 59"} {"id": "MONDO_0015023", "parentIds": ["MONDO_0018958"], "name": "MYPN-related myopathy"} +{"id": "MONDO_0015025", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy, 51"} {"id": "MONDO_0015027", "parentIds": ["MONDO_0015356", "MONDO_0016365"], "name": "familial isolated hyperparathyroidism"} -{"id": "MONDO_0015028", "parentIds": ["MONDO_0015620", "MONDO_0017975"], "name": "48,XXYY syndrome"} +{"id": "MONDO_0015028", "parentIds": ["MONDO_0017975"], "name": "48,XXYY syndrome"} {"id": "MONDO_0015032", "parentIds": ["MONDO_0019404"], "name": "intraneural perineurioma"} {"id": "MONDO_0015033", "parentIds": ["MONDO_0011583"], "name": "ABeta amyloidosis, dutch type"} {"id": "MONDO_0015034", "parentIds": ["MONDO_0019450"], "name": "lissencephaly with cerebellar hypoplasia type A"} @@ -6374,8 +8428,8 @@ {"id": "MONDO_0015039", "parentIds": ["MONDO_0019450"], "name": "lissencephaly with cerebellar hypoplasia type F"} {"id": "MONDO_0015047", "parentIds": ["MONDO_0019507"], "name": "amelogenesis imperfecta type 1"} {"id": "MONDO_0015048", "parentIds": ["MONDO_0019507"], "name": "amelogenesis imperfecta type 2"} -{"id": "MONDO_0015050", "parentIds": ["MONDO_0019619"], "name": "esophageal duplication cyst"} -{"id": "MONDO_0015051", "parentIds": ["MONDO_0019619"], "name": "tubular duplication of the esophagus"} +{"id": "MONDO_0015050", "parentIds": ["EFO_0009544"], "name": "esophageal duplication cyst"} +{"id": "MONDO_0015051", "parentIds": ["EFO_0009544"], "name": "tubular duplication of the esophagus"} {"id": "MONDO_0015053", "parentIds": ["MONDO_0033946"], "name": "hereditary angioedema type 1"} {"id": "MONDO_0015054", "parentIds": ["MONDO_0033946"], "name": "hereditary angioedema type 2"} {"id": "MONDO_0015059", "parentIds": ["MONDO_0011842", "EFO_0004280"], "name": "progressive non-fluent aphasia"} @@ -6384,9 +8438,13 @@ {"id": "MONDO_0015063", "parentIds": ["MONDO_0024500", "MONDO_0002995"], "name": "duodenal neuroendocrine tumor, well differentiated, low or intermediate grade"} {"id": "MONDO_0015064", "parentIds": ["MONDO_0002564", "MONDO_0002995"], "name": "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade"} {"id": "MONDO_0015065", "parentIds": ["MONDO_0002995", "EFO_1000981"], "name": "ileal neuroendocrine tumor, well differentiated, low or intermediate grade"} -{"id": "MONDO_0015066", "parentIds": ["MONDO_0024501", "MONDO_0015067", "MONDO_0018511"], "name": "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade"} +{"id": "MONDO_0015066", "parentIds": ["MONDO_0015067", "MONDO_0024501", "MONDO_0018511"], "name": "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade"} {"id": "MONDO_0015067", "parentIds": ["MONDO_0000386", "MONDO_0024479", "MONDO_0002882"], "name": "neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor"} -{"id": "MONDO_0015070", "parentIds": ["EFO_0005950", "EFO_1001901", "EFO_0003817"], "name": "laryngeal neuroendocrine neoplasm"} +{"id": "MONDO_0015068", "parentIds": ["MONDO_0003646", "MONDO_0000386"], "name": "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade"} +{"id": "MONDO_0015069", "parentIds": ["MONDO_0003504", "MONDO_0015068"], "name": "neuroendocrine tumor of the anal canal"} +{"id": "MONDO_0015070", "parentIds": ["EFO_1001901", "EFO_0003817", "EFO_0005950"], "name": "laryngeal neuroendocrine neoplasm"} +{"id": "MONDO_0015071", "parentIds": ["MONDO_0021366", "EFO_1001901"], "name": "middle ear neuroendocrine tumor"} +{"id": "MONDO_0015072", "parentIds": ["MONDO_0024503", "MONDO_0018531", "MONDO_0002120"], "name": "liver neuroendocrine carcinoma"} {"id": "MONDO_0015073", "parentIds": ["MONDO_0024502", "MONDO_0021385", "MONDO_0000386"], "name": "gallbladder neuroendocrine tumor, grade 1/2"} {"id": "MONDO_0015079", "parentIds": ["MONDO_0015126"], "name": "multiple polyglandular tumor"} {"id": "MONDO_0015082", "parentIds": ["MONDO_0004907"], "name": "alopecia antibody deficiency"} @@ -6395,9 +8453,6 @@ {"id": "MONDO_0015085", "parentIds": ["MONDO_0017265"], "name": "bathing suit ichthyosis"} {"id": "MONDO_0015086", "parentIds": ["MONDO_0015338"], "name": "cloverleaf skull-asphyxiating thoracic dysplasia syndrome"} {"id": "MONDO_0015087", "parentIds": ["MONDO_0000426", "MONDO_0015150"], "name": "autosomal dominant complex spastic paraplegia"} -{"id": "MONDO_0015088", "parentIds": ["MONDO_0015149", "MONDO_0000426"], "name": "autosomal dominant pure spastic paraplegia"} -{"id": "MONDO_0015089", "parentIds": ["EFO_1000017", "MONDO_0015150"], "name": "autosomal recessive complex spastic paraplegia"} -{"id": "MONDO_0015090", "parentIds": ["EFO_1000017", "MONDO_0015149"], "name": "autosomal recessive pure spastic paraplegia"} {"id": "MONDO_0015091", "parentIds": ["MONDO_0015087", "MONDO_0100126"], "name": "autosomal dominant spastic paraplegia type 9"} {"id": "MONDO_0015093", "parentIds": ["MONDO_0016292"], "name": "sub-cortical nodular heterotopia"} {"id": "MONDO_0015094", "parentIds": ["MONDO_0016292"], "name": "subependymal nodular heterotopia"} @@ -6405,23 +8460,15 @@ {"id": "MONDO_0015096", "parentIds": ["MONDO_0008737"], "name": "familial hypofibrinogenemia"} {"id": "MONDO_0015099", "parentIds": ["MONDO_0017092"], "name": "unilateral hemispheric polymicrogyria"} {"id": "MONDO_0015101", "parentIds": ["MONDO_0007946"], "name": "Marin-Amat syndrome"} -{"id": "MONDO_0015104", "parentIds": ["MONDO_0019800", "MONDO_0002406"], "name": "porphyria cutanea tarda"} -{"id": "MONDO_0015111", "parentIds": ["EFO_0010282"], "name": "gastroesophageal disease"} +{"id": "MONDO_0015104", "parentIds": ["MONDO_0002520", "MONDO_0002406"], "name": "porphyria cutanea tarda"} {"id": "MONDO_0015126", "parentIds": ["EFO_0001379"], "name": "polyendocrinopathy"} {"id": "MONDO_0015127", "parentIds": ["EFO_0001379"], "name": "pituitary deficiency"} {"id": "MONDO_0015128", "parentIds": ["EFO_0005539"], "name": "primary adrenal insufficiency"} {"id": "MONDO_0015129", "parentIds": ["EFO_0009491", "MONDO_0015128"], "name": "chronic primary adrenal insufficiency"} -{"id": "MONDO_0015130", "parentIds": ["MONDO_0015129"], "name": "acquired chronic primary adrenal insufficiency"} -{"id": "MONDO_0015131", "parentIds": ["MONDO_0015823", "MONDO_0021094"], "name": "combined immunodeficiency"} -{"id": "MONDO_0015132", "parentIds": ["MONDO_0015823"], "name": "immunodeficiency predominantly affecting antibody production"} -{"id": "MONDO_0015133", "parentIds": ["MONDO_0015135"], "name": "quantitative and/or qualitative congenital phagocyte defect"} -{"id": "MONDO_0015134", "parentIds": ["MONDO_0015133", "MONDO_0009332", "MONDO_0001475"], "name": "constitutional neutropenia"} -{"id": "MONDO_0015135", "parentIds": ["MONDO_0003778"], "name": "primary immunodeficiency due to a genetic defect in innate immunity"} +{"id": "MONDO_0015131", "parentIds": ["MONDO_0021094"], "name": "combined immunodeficiency"} +{"id": "MONDO_0015134", "parentIds": ["MONDO_0009332", "MONDO_0001475"], "name": "constitutional neutropenia"} {"id": "MONDO_0015137", "parentIds": ["MONDO_0019751"], "name": "periodic fever syndrome"} {"id": "MONDO_0015140", "parentIds": ["MONDO_0024237", "MONDO_0015547", "MONDO_0100087", "MONDO_0000426"], "name": "early-onset autosomal dominant Alzheimer disease"} -{"id": "MONDO_0015141", "parentIds": ["EFO_0005774"], "name": "disorder of medulla oblongata"} -{"id": "MONDO_0015144", "parentIds": ["EFO_0001423", "EFO_0005774"], "name": "brain inflammatory disease"} -{"id": "MONDO_0015145", "parentIds": ["EFO_0000618"], "name": "neurovascular malformation"} {"id": "MONDO_0015146", "parentIds": ["MONDO_0018838"], "name": "classic lissencephaly"} {"id": "MONDO_0015148", "parentIds": ["MONDO_0018838"], "name": "lissencephaly type 3"} {"id": "MONDO_0015149", "parentIds": ["MONDO_0019064"], "name": "pure hereditary spastic paraplegia"} @@ -6432,142 +8479,117 @@ {"id": "MONDO_0015159", "parentIds": ["MONDO_0019042"], "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"} {"id": "MONDO_0015160", "parentIds": ["MONDO_0019042"], "name": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"} {"id": "MONDO_0015161", "parentIds": ["MONDO_0019042"], "name": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"} -{"id": "MONDO_0015167", "parentIds": ["MONDO_0017421"], "name": "amniotic band syndrome"} +{"id": "MONDO_0015167", "parentIds": ["MONDO_0018230", "MONDO_0018234"], "name": "amniotic band syndrome"} {"id": "MONDO_0015168", "parentIds": ["MONDO_0015225", "EFO_0000508"], "name": "arthrogryposis multiplex congenita"} {"id": "MONDO_0015169", "parentIds": ["MONDO_0044751", "MONDO_0017706"], "name": "chronic diarrhea due to glucoamylase deficiency"} -{"id": "MONDO_0015170", "parentIds": ["MONDO_0015178", "MONDO_0000824"], "name": "congenital sodium diarrhea"} -{"id": "MONDO_0015171", "parentIds": ["MONDO_0015182"], "name": "congenital enterocyte heparan sulfate deficiency"} +{"id": "MONDO_0015170", "parentIds": ["MONDO_0000824"], "name": "congenital sodium diarrhea"} +{"id": "MONDO_0015171", "parentIds": ["EFO_0009431"], "name": "congenital enterocyte heparan sulfate deficiency"} {"id": "MONDO_0015175", "parentIds": ["EFO_0000278", "MONDO_0000588", "MONDO_0017287", "MONDO_0000569"], "name": "autoimmune pancreatitis"} -{"id": "MONDO_0015177", "parentIds": ["MONDO_0019693"], "name": "metaphyseal anadysplasia"} -{"id": "MONDO_0015178", "parentIds": ["EFO_0009431"], "name": "congenital intestinal transport defect"} -{"id": "MONDO_0015179", "parentIds": ["EFO_0009554"], "name": "intestinal disease due to vitamin absorption anomaly"} -{"id": "MONDO_0015180", "parentIds": ["EFO_0009554"], "name": "intestinal disease due to fat malabsorption"} -{"id": "MONDO_0015182", "parentIds": ["EFO_0009431"], "name": "congenital enteropathy involving intestinal mucosa development"} +{"id": "MONDO_0015177", "parentIds": ["MONDO_0018230"], "name": "metaphyseal anadysplasia"} {"id": "MONDO_0015183", "parentIds": ["EFO_0009431"], "name": "short bowel syndrome"} -{"id": "MONDO_0015185", "parentIds": ["MONDO_0018538"], "name": "intestinal polyposis syndrome"} +{"id": "MONDO_0015185", "parentIds": ["MONDO_0015356"], "name": "intestinal polyposis syndrome"} {"id": "MONDO_0015191", "parentIds": ["MONDO_0017574"], "name": "myopathic intestinal pseudoobstruction"} {"id": "MONDO_0015193", "parentIds": ["MONDO_0019755"], "name": "hydrops fetalis"} {"id": "MONDO_0015194", "parentIds": ["MONDO_0002280"], "name": "sideroblastic anemia"} {"id": "MONDO_0015195", "parentIds": ["MONDO_0018559"], "name": "atresia of urethra"} -{"id": "MONDO_0015198", "parentIds": ["MONDO_0020148"], "name": "aniridia-ptosis-intellectual disability-familial obesity syndrome"} -{"id": "MONDO_0015199", "parentIds": ["MONDO_0020148"], "name": "aniridia - intellectual disability syndrome"} -{"id": "MONDO_0015201", "parentIds": ["MONDO_0020156", "MONDO_0015246"], "name": "ankyloblepharon filiforme-imperforate anus syndrome"} +{"id": "MONDO_0015196", "parentIds": ["MONDO_0004634", "MONDO_0001256", "MONDO_0003948"], "name": "vein of Galen aneurysm"} +{"id": "MONDO_0015198", "parentIds": ["OTAR_0000018"], "name": "aniridia-ptosis-intellectual disability-familial obesity syndrome"} +{"id": "MONDO_0015199", "parentIds": ["EFO_0000508"], "name": "aniridia - intellectual disability syndrome"} +{"id": "MONDO_0015201", "parentIds": ["MONDO_0024458", "MONDO_0019755"], "name": "ankyloblepharon filiforme-imperforate anus syndrome"} {"id": "MONDO_0015204", "parentIds": ["MONDO_0018838"], "name": "microlissencephaly"} {"id": "MONDO_0015205", "parentIds": ["MONDO_0015146"], "name": "isolated lissencephaly type 1 without known genetic defects"} {"id": "MONDO_0015206", "parentIds": ["MONDO_0015160"], "name": "short stature-heart defect-craniofacial anomalies syndrome"} -{"id": "MONDO_0015207", "parentIds": ["MONDO_0019513"], "name": "non-syndromic esophageal malformation"} -{"id": "MONDO_0015208", "parentIds": ["MONDO_0019513"], "name": "syndromic esophageal malformation"} -{"id": "MONDO_0015209", "parentIds": ["MONDO_0019998"], "name": "non-syndromic gastroduodenal malformation"} -{"id": "MONDO_0015210", "parentIds": ["MONDO_0019998"], "name": "syndromic gastroduodenal malformation"} -{"id": "MONDO_0015211", "parentIds": ["MONDO_0019999"], "name": "non-syndromic intestinal malformation"} -{"id": "MONDO_0015212", "parentIds": ["MONDO_0019999"], "name": "syndromic intestinal malformation"} -{"id": "MONDO_0015213", "parentIds": ["MONDO_0020020"], "name": "non-syndromic visceral malformation"} -{"id": "MONDO_0015214", "parentIds": ["MONDO_0020020"], "name": "syndromic visceral malformation"} -{"id": "MONDO_0015217", "parentIds": ["MONDO_0020145"], "name": "non-syndromic developmental defect of the eye"} -{"id": "MONDO_0015219", "parentIds": ["MONDO_0020022"], "name": "non-syndromic central nervous system malformation"} -{"id": "MONDO_0015221", "parentIds": ["MONDO_0020023"], "name": "non-syndromic respiratory or mediastinal malformation"} -{"id": "MONDO_0015222", "parentIds": ["MONDO_0020023"], "name": "syndromic respiratory or mediastinal malformation"} {"id": "MONDO_0015225", "parentIds": ["MONDO_0019054"], "name": "arthrogryposis syndrome"} -{"id": "MONDO_0015227", "parentIds": ["MONDO_0019054"], "name": "non-syndromic limb malformation"} {"id": "MONDO_0015228", "parentIds": ["MONDO_0700027", "MONDO_0700085"], "name": "pentasomy X"} -{"id": "MONDO_0015229", "parentIds": ["EFO_0003900", "EFO_1000017"], "name": "Bardet-Biedl syndrome"} +{"id": "MONDO_0015229", "parentIds": ["EFO_1000017", "EFO_0003900"], "name": "Bardet-Biedl syndrome"} {"id": "MONDO_0015230", "parentIds": ["MONDO_0015161"], "name": "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome"} -{"id": "MONDO_0015231", "parentIds": ["EFO_1000647", "MONDO_0015962"], "name": "Bartter syndrome"} -{"id": "MONDO_0015232", "parentIds": ["MONDO_0019054", "MONDO_0018454"], "name": "radial deficiency-tibial hypoplasia syndrome"} +{"id": "MONDO_0015231", "parentIds": ["MONDO_0015962", "EFO_1000647"], "name": "Bartter syndrome"} +{"id": "MONDO_0015232", "parentIds": ["MONDO_0019054", "MONDO_0018234", "EFO_0000508"], "name": "radial deficiency-tibial hypoplasia syndrome"} {"id": "MONDO_0015233", "parentIds": ["MONDO_0015159"], "name": "caudal appendage-deafness syndrome"} {"id": "MONDO_0015234", "parentIds": ["MONDO_0015159"], "name": "arachnodactyly-abnormal ossification-intellectual disability syndrome"} {"id": "MONDO_0015235", "parentIds": ["MONDO_0015160"], "name": "arachnodactyly-intellectual disability-dysmorphism syndrome"} -{"id": "MONDO_0015236", "parentIds": ["MONDO_0015222", "MONDO_0022606", "MONDO_0020292", "MONDO_0015930"], "name": "aortic arch defects"} -{"id": "MONDO_0015238", "parentIds": ["MONDO_0015161", "MONDO_0015503", "MONDO_0018562"], "name": "arrhinia-choanal atresia-microphthalmia syndrome"} +{"id": "MONDO_0015236", "parentIds": ["MONDO_0022606", "MONDO_0020292"], "name": "aortic arch defects"} +{"id": "MONDO_0015238", "parentIds": ["MONDO_0015161"], "name": "arrhinia-choanal atresia-microphthalmia syndrome"} {"id": "MONDO_0015240", "parentIds": ["MONDO_0015161", "MONDO_0019942"], "name": "digitotalar dysmorphism"} {"id": "MONDO_0015241", "parentIds": ["MONDO_0015168"], "name": "arthrogryposis-like syndrome"} {"id": "MONDO_0015244", "parentIds": ["MONDO_0100310", "EFO_1000017"], "name": "autosomal recessive cerebellar ataxia"} -{"id": "MONDO_0015246", "parentIds": ["MONDO_0019938"], "name": "syndromic anorectal malformation"} -{"id": "MONDO_0015250", "parentIds": ["MONDO_0016116"], "name": "spinal atrophy-ophthalmoplegia-pyramidal syndrome"} +{"id": "MONDO_0015249", "parentIds": ["MONDO_0019817", "EFO_0009557", "EFO_0005207"], "name": "mitral atresia disorder"} +{"id": "MONDO_0015250", "parentIds": ["MONDO_0016113"], "name": "spinal atrophy-ophthalmoplegia-pyramidal syndrome"} {"id": "MONDO_0015253", "parentIds": ["MONDO_0001713", "MONDO_0001705"], "name": "Diamond-Blackfan anemia"} -{"id": "MONDO_0015255", "parentIds": ["MONDO_0020158", "MONDO_0019054", "MONDO_0018454"], "name": "blepharophimosis-radioulnar synostosis syndrome"} {"id": "MONDO_0015256", "parentIds": ["OTAR_0000018"], "name": "blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome"} {"id": "MONDO_0015257", "parentIds": ["MONDO_0007263"], "name": "sino-auricular heart block"} {"id": "MONDO_0015259", "parentIds": ["MONDO_0015159"], "name": "brachydactyly-mesomelia-intellectual disability-heart defects syndrome"} {"id": "MONDO_0015262", "parentIds": ["EFO_0005571", "MONDO_0019694"], "name": "brachyolmia"} -{"id": "MONDO_0015263", "parentIds": ["MONDO_0000992", "EFO_0000508"], "name": "Brugada syndrome"} -{"id": "MONDO_0015267", "parentIds": ["MONDO_0000426", "MONDO_0015210", "MONDO_0018454", "MONDO_0019054", "MONDO_0015160", "MONDO_0015222", "MONDO_0015208"], "name": "Feingold syndrome"} -{"id": "MONDO_0015268", "parentIds": ["MONDO_0019720", "EFO_0008615"], "name": "medullary sponge kidney"} +{"id": "MONDO_0015263", "parentIds": ["MONDO_0100547", "MONDO_0000992"], "name": "Brugada syndrome"} +{"id": "MONDO_0015267", "parentIds": ["MONDO_0000426"], "name": "Feingold syndrome"} +{"id": "MONDO_0015268", "parentIds": ["EFO_0008615"], "name": "medullary sponge kidney"} {"id": "MONDO_0015270", "parentIds": ["MONDO_0019253"], "name": "butyrylcholinesterase deficiency"} +{"id": "MONDO_0015271", "parentIds": ["MONDO_0016105"], "name": "idiopathic camptocormia"} {"id": "MONDO_0015272", "parentIds": ["MONDO_0019054"], "name": "camptodactyly-taurinuria syndrome"} +{"id": "MONDO_0015273", "parentIds": ["MONDO_0020290"], "name": "complete atrioventricular canal"} {"id": "MONDO_0015277", "parentIds": ["EFO_0000501", "MONDO_0002120"], "name": "medullary thyroid gland carcinoma"} {"id": "MONDO_0015278", "parentIds": ["EFO_0000508", "EFO_0002618"], "name": "familial pancreatic carcinoma"} {"id": "MONDO_0015279", "parentIds": ["MONDO_0003778", "MONDO_0100118"], "name": "chronic mucocutaneous candidiasis"} -{"id": "MONDO_0015280", "parentIds": ["MONDO_0019287", "MONDO_0020297", "MONDO_0015159"], "name": "cardiofaciocutaneous syndrome"} +{"id": "MONDO_0015280", "parentIds": ["MONDO_0020297", "MONDO_0015159", "MONDO_0019287"], "name": "cardiofaciocutaneous syndrome"} {"id": "MONDO_0015281", "parentIds": ["MONDO_0016340"], "name": "atrial standstill"} {"id": "MONDO_0015282", "parentIds": ["OTAR_0000018"], "name": "cardiomyopathy-cataract-hip spine disease syndrome"} {"id": "MONDO_0015283", "parentIds": ["MONDO_0044970"], "name": "maternally-inherited cardiomyopathy and hearing loss"} {"id": "MONDO_0015284", "parentIds": ["MONDO_0016432", "MONDO_0015161"], "name": "heart-hand syndrome type 2"} {"id": "MONDO_0015285", "parentIds": ["MONDO_0000426"], "name": "Carney complex"} {"id": "MONDO_0015286", "parentIds": ["MONDO_0024322", "MONDO_0019052"], "name": "congenital disorder of glycosylation"} -{"id": "MONDO_0015293", "parentIds": ["MONDO_0000629", "MONDO_0017623", "MONDO_0024296", "MONDO_0016229", "MONDO_0015950", "MONDO_0019716", "EFO_0009675"], "name": "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"} -{"id": "MONDO_0015295", "parentIds": ["MONDO_0019126", "MONDO_0015503", "MONDO_0018562"], "name": "intractable diarrhea-choanal atresia-eye anomalies syndrome"} +{"id": "MONDO_0015289", "parentIds": ["MONDO_0020950", "MONDO_0023865"], "name": "infectious epithelial keratitis"} +{"id": "MONDO_0015293", "parentIds": ["MONDO_0017623", "MONDO_0100118", "MONDO_0019716", "EFO_0009675"], "name": "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"} +{"id": "MONDO_0015295", "parentIds": ["EFO_0009431"], "name": "intractable diarrhea-choanal atresia-eye anomalies syndrome"} {"id": "MONDO_0015296", "parentIds": ["EFO_0003777"], "name": "cardiac anomalies-heterotaxy syndrome"} {"id": "MONDO_0015300", "parentIds": ["OTAR_0000018"], "name": "cataract - microcornea syndrome"} {"id": "MONDO_0015301", "parentIds": ["MONDO_0021154", "EFO_1001875"], "name": "primary cutaneous amyloidosis"} {"id": "MONDO_0015307", "parentIds": ["EFO_0003782"], "name": "Madras motor neuron disease"} {"id": "MONDO_0015308", "parentIds": ["MONDO_0021187"], "name": "laminopathy type Decaudain-Vigouroux"} -{"id": "MONDO_0015310", "parentIds": ["MONDO_0020249"], "name": "syndromic optic nerve hypoplasia"} {"id": "MONDO_0015311", "parentIds": ["OTAR_0000018"], "name": "autism-facial port-wine stain syndrome"} -{"id": "MONDO_0015323", "parentIds": ["EFO_0000508"], "name": "teratogenic Pierre Robin syndrome"} -{"id": "MONDO_0015324", "parentIds": ["MONDO_0015246", "MONDO_0015159"], "name": "cataract-intellectual disability-anal atresia-urinary defects syndrome"} +{"id": "MONDO_0015324", "parentIds": ["MONDO_0015159"], "name": "cataract-intellectual disability-anal atresia-urinary defects syndrome"} {"id": "MONDO_0015325", "parentIds": ["MONDO_0015159"], "name": "cataract-deafness-hypogonadism syndrome"} {"id": "MONDO_0015326", "parentIds": ["MONDO_0015161"], "name": "night blindness-skeletal anomalies-dysmorphism syndrome"} {"id": "MONDO_0015327", "parentIds": ["EFO_0000589", "MONDO_0019755"], "name": "developmental anomaly of metabolic origin"} -{"id": "MONDO_0015330", "parentIds": ["MONDO_0019755"], "name": "overgrowth/obesity syndrome"} {"id": "MONDO_0015333", "parentIds": ["EFO_0000508", "MONDO_0019303", "MONDO_0019755"], "name": "progeroid syndrome"} -{"id": "MONDO_0015334", "parentIds": ["MONDO_0019755"], "name": "branchial arch or oral-acral syndrome"} {"id": "MONDO_0015337", "parentIds": ["MONDO_0015469"], "name": "isolated craniosynostosis"} {"id": "MONDO_0015338", "parentIds": ["MONDO_0015469", "MONDO_0018230"], "name": "syndromic craniosynostosis"} {"id": "MONDO_0015339", "parentIds": ["MONDO_0020127", "MONDO_0018544"], "name": "adrenomyeloneuropathy"} -{"id": "MONDO_0015342", "parentIds": ["MONDO_0015141", "EFO_1001472"], "name": "acute transverse myelitis"} +{"id": "MONDO_0015342", "parentIds": ["EFO_1001472"], "name": "acute transverse myelitis"} {"id": "MONDO_0015344", "parentIds": ["MONDO_0015342"], "name": "idiopathic acute transverse myelitis"} {"id": "MONDO_0015346", "parentIds": ["MONDO_0020072"], "name": "Jeavons syndrome"} {"id": "MONDO_0015348", "parentIds": ["MONDO_0019046"], "name": "leukoencephalopathy with bilateral anterior temporal lobe cysts"} {"id": "MONDO_0015349", "parentIds": ["MONDO_0019046"], "name": "progressive cavitating leukoencephalopathy"} {"id": "MONDO_0015350", "parentIds": ["MONDO_0016967", "EFO_0000508"], "name": "17q11.2 microduplication syndrome"} -{"id": "MONDO_0015351", "parentIds": ["MONDO_0015359"], "name": "neuropathy with hearing impairment"} +{"id": "MONDO_0015351", "parentIds": ["MONDO_0020127"], "name": "neuropathy with hearing impairment"} {"id": "MONDO_0015352", "parentIds": ["MONDO_0015362"], "name": "distal hereditary motor neuropathy type 2"} -{"id": "MONDO_0015353", "parentIds": ["MONDO_0100350", "MONDO_0015362"], "name": "neuronopathy, distal hereditary motor, type 5A"} -{"id": "MONDO_0015354", "parentIds": ["MONDO_0015366"], "name": "hereditary sensory and autonomic neuropathy with deafness and global delay"} +{"id": "MONDO_0015353", "parentIds": ["MONDO_0100350"], "name": "neuronopathy, distal hereditary motor, type 5A"} +{"id": "MONDO_0015354", "parentIds": ["EFO_0000508"], "name": "hereditary sensory and autonomic neuropathy with deafness and global delay"} {"id": "MONDO_0015355", "parentIds": ["MONDO_0015362"], "name": "distal hereditary motor neuropathy type 7"} {"id": "MONDO_0015356", "parentIds": ["EFO_0000508", "MONDO_0021058"], "name": "hereditary neoplastic syndrome"} {"id": "MONDO_0015358", "parentIds": ["MONDO_0020127"], "name": "hereditary motor and sensory neuropathy"} -{"id": "MONDO_0015359", "parentIds": ["MONDO_0000426", "MONDO_0018776"], "name": "autosomal dominant hereditary demyelinating motor and sensory neuropathy"} -{"id": "MONDO_0015360", "parentIds": ["MONDO_0000426", "MONDO_0018775"], "name": "autosomal dominant hereditary axonal motor and sensory neuropathy"} -{"id": "MONDO_0015361", "parentIds": ["EFO_1000017", "MONDO_0018776"], "name": "autosomal recessive hereditary demyelinating motor and sensory neuropathy"} -{"id": "MONDO_0015362", "parentIds": ["EFO_0008525", "MONDO_0018894", "MONDO_0000426"], "name": "autosomal dominant distal hereditary motor neuropathy"} -{"id": "MONDO_0015363", "parentIds": ["MONDO_0018894", "EFO_1000017"], "name": "autosomal recessive distal hereditary motor neuropathy"} +{"id": "MONDO_0015362", "parentIds": ["EFO_0008525", "MONDO_0018894", "MONDO_0000426"], "name": "neuronopathy, distal hereditary motor, autosomal dominant"} +{"id": "MONDO_0015363", "parentIds": ["MONDO_0018894", "EFO_1000017"], "name": "neuronopathy, distal hereditary motor, autosomal recessive"} {"id": "MONDO_0015364", "parentIds": ["MONDO_0020127", "MONDO_0002321"], "name": "hereditary sensory and autonomic neuropathy"} -{"id": "MONDO_0015365", "parentIds": ["MONDO_0015364", "MONDO_0000426"], "name": "autosomal dominant hereditary sensory and autonomic neuropathy"} -{"id": "MONDO_0015366", "parentIds": ["MONDO_0015364", "EFO_1000017"], "name": "autosomal recessive hereditary sensory and autonomic neuropathy"} -{"id": "MONDO_0015367", "parentIds": ["MONDO_0015161", "MONDO_0015334", "MONDO_0017139"], "name": "Charlie M syndrome"} -{"id": "MONDO_0015368", "parentIds": ["EFO_0003966"], "name": "neuro-ophthalmological disease"} +{"id": "MONDO_0015367", "parentIds": ["MONDO_0015161", "MONDO_0017139"], "name": "Charlie M syndrome"} {"id": "MONDO_0015369", "parentIds": ["MONDO_0020043"], "name": "Joubert syndrome and related disorders"} {"id": "MONDO_0015371", "parentIds": ["MONDO_0021154"], "name": "linear atrophoderma of Moulin"} -{"id": "MONDO_0015372", "parentIds": ["MONDO_0016361"], "name": "autosomal dominant macrothrombocytopenia"} -{"id": "MONDO_0015374", "parentIds": ["MONDO_0015489"], "name": "primary central nervous system vasculitis"} -{"id": "MONDO_0015375", "parentIds": ["MONDO_0015334", "EFO_0000508", "MONDO_0015498"], "name": "orofaciodigital syndrome"} -{"id": "MONDO_0015394", "parentIds": ["MONDO_0015503", "MONDO_0016057"], "name": "nasal encephalocele"} -{"id": "MONDO_0015397", "parentIds": ["MONDO_0015482", "MONDO_0800085", "MONDO_0007712", "MONDO_0018751"], "name": "oculo-auriculo-vertebral spectrum"} -{"id": "MONDO_0015398", "parentIds": ["MONDO_0015397"], "name": "hemifacial microsomia"} +{"id": "MONDO_0015372", "parentIds": ["MONDO_0100241"], "name": "autosomal dominant macrothrombocytopenia"} +{"id": "MONDO_0015374", "parentIds": ["MONDO_0003346"], "name": "primary central nervous system vasculitis"} +{"id": "MONDO_0015375", "parentIds": ["EFO_0000508", "MONDO_0015498"], "name": "orofaciodigital syndrome"} +{"id": "MONDO_0015384", "parentIds": ["MONDO_0001165", "MONDO_0015476"], "name": "digestive duplication cyst of the tongue"} +{"id": "MONDO_0015391", "parentIds": ["EFO_0004252", "MONDO_0019500", "MONDO_0002601"], "name": "nasopharyngeal teratoma"} +{"id": "MONDO_0015394", "parentIds": ["MONDO_0016057"], "name": "nasal encephalocele"} +{"id": "MONDO_0015397", "parentIds": ["MONDO_0007712"], "name": "craniofacial microsomia"} {"id": "MONDO_0015399", "parentIds": ["MONDO_0017139"], "name": "glossopalatine ankylosis"} -{"id": "MONDO_0015405", "parentIds": ["MONDO_0015145", "MONDO_0000648", "MONDO_0001256", "MONDO_0043218"], "name": "cerebrofacial arteriovenous metameric syndrome"} +{"id": "MONDO_0015405", "parentIds": ["MONDO_0001256"], "name": "cerebrofacial arteriovenous metameric syndrome"} {"id": "MONDO_0015411", "parentIds": ["MONDO_0019755", "MONDO_0023369"], "name": "facial cleft"} -{"id": "MONDO_0015412", "parentIds": ["MONDO_0015411"], "name": "median facial cleft"} -{"id": "MONDO_0015415", "parentIds": ["MONDO_0015411"], "name": "oblique facial cleft"} -{"id": "MONDO_0015416", "parentIds": ["MONDO_0015415"], "name": "Tessier number 5 facial cleft"} -{"id": "MONDO_0015417", "parentIds": ["MONDO_0015415"], "name": "Tessier number 6 facial cleft"} -{"id": "MONDO_0015418", "parentIds": ["MONDO_0015961", "MONDO_0015411"], "name": "lateral facial cleft"} +{"id": "MONDO_0015416", "parentIds": ["MONDO_0015411"], "name": "Tessier number 5 facial cleft"} +{"id": "MONDO_0015417", "parentIds": ["MONDO_0015411"], "name": "Tessier number 6 facial cleft"} +{"id": "MONDO_0015420", "parentIds": ["MONDO_0000358"], "name": "cleft lip and alveolus"} {"id": "MONDO_0015421", "parentIds": ["MONDO_0015375"], "name": "orofaciodigital syndrome type 12"} {"id": "MONDO_0015422", "parentIds": ["MONDO_0015375"], "name": "orofaciodigital syndrome type 13"} -{"id": "MONDO_0015424", "parentIds": ["MONDO_0019718"], "name": "lethal chondrodysplasia, Moerman type"} -{"id": "MONDO_0015425", "parentIds": ["MONDO_0022723", "MONDO_0019718"], "name": "lethal recessive chondrodysplasia"} +{"id": "MONDO_0015424", "parentIds": ["EFO_0005571", "MONDO_0018230"], "name": "lethal chondrodysplasia, Moerman type"} +{"id": "MONDO_0015425", "parentIds": ["MONDO_0022723", "EFO_0000508"], "name": "lethal recessive chondrodysplasia"} {"id": "MONDO_0015426", "parentIds": ["MONDO_0019755", "EFO_0005571", "EFO_0000508"], "name": "Desbuquois dysplasia"} {"id": "MONDO_0015427", "parentIds": ["MONDO_0016058"], "name": "paroxysmal dyskinesia"} {"id": "MONDO_0015428", "parentIds": ["MONDO_0019287"], "name": "choroidal atrophy-alopecia syndrome"} @@ -6585,46 +8607,37 @@ {"id": "MONDO_0015440", "parentIds": ["MONDO_0700091", "MONDO_0700013"], "name": "ring chromosome 6"} {"id": "MONDO_0015441", "parentIds": ["MONDO_0700014", "MONDO_0700091"], "name": "ring chromosome 7"} {"id": "MONDO_0015443", "parentIds": ["MONDO_0700015", "MONDO_0700091"], "name": "chromosome 8-derived supernumerary ring/marker"} +{"id": "MONDO_0015445", "parentIds": ["EFO_1001267", "MONDO_0000426"], "name": "autosomal dominant coarctation of aorta"} {"id": "MONDO_0015446", "parentIds": ["EFO_1001267"], "name": "atypical coarctation of aorta"} -{"id": "MONDO_0015448", "parentIds": ["MONDO_0016805", "MONDO_0000066"], "name": "mitochondrial complex III deficiency"} -{"id": "MONDO_0015452", "parentIds": ["MONDO_0015159", "MONDO_0018454"], "name": "Coffin-Siris syndrome"} +{"id": "MONDO_0015448", "parentIds": ["MONDO_0000066"], "name": "mitochondrial complex III deficiency"} +{"id": "MONDO_0015450", "parentIds": ["EFO_0005269"], "name": "triatrial heart"} +{"id": "MONDO_0015452", "parentIds": ["EFO_0002461", "EFO_0000508", "MONDO_0015159"], "name": "Coffin-Siris syndrome"} {"id": "MONDO_0015454", "parentIds": ["MONDO_0019215", "MONDO_0020698", "MONDO_0019214"], "name": "multiple carboxylase deficiency"} +{"id": "MONDO_0015455", "parentIds": ["DOID_7551", "EFO_1000829"], "name": "gonococcal conjunctivitis"} {"id": "MONDO_0015458", "parentIds": ["MONDO_0015159"], "name": "intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome"} +{"id": "MONDO_0015459", "parentIds": ["MONDO_0021345", "MONDO_0043424", "MONDO_0002038", "MONDO_0021315", "MONDO_0024355", "MONDO_0017344"], "name": "nasopharyngeal carcinoma"} {"id": "MONDO_0015461", "parentIds": ["MONDO_0019691", "MONDO_0015929"], "name": "short rib-polydactyly syndrome"} -{"id": "MONDO_0015462", "parentIds": ["MONDO_0019699"], "name": "thin ribs-tubular bones-dysmorphism syndrome"} +{"id": "MONDO_0015462", "parentIds": ["MONDO_0018230"], "name": "thin ribs-tubular bones-dysmorphism syndrome"} {"id": "MONDO_0015463", "parentIds": ["MONDO_0015159"], "name": "craniodigital syndrome-intellectual disability syndrome"} {"id": "MONDO_0015464", "parentIds": ["MONDO_0015856", "MONDO_0016643"], "name": "craniofrontonasal dysplasia-Poland anomaly syndrome"} {"id": "MONDO_0015465", "parentIds": ["MONDO_0042973"], "name": "craniometaphyseal dysplasia"} {"id": "MONDO_0015466", "parentIds": ["MONDO_0016620"], "name": "cranio-osteoarthropathy"} {"id": "MONDO_0015467", "parentIds": ["MONDO_0015338"], "name": "craniosynostosis, Philadelphia type"} {"id": "MONDO_0015468", "parentIds": ["MONDO_0015338"], "name": "craniosynostosis-cataract syndrome"} -{"id": "MONDO_0015469", "parentIds": ["MONDO_0020018", "MONDO_0018454"], "name": "craniosynostosis"} -{"id": "MONDO_0015470", "parentIds": ["MONDO_0016333"], "name": "familial isolated dilated cardiomyopathy"} +{"id": "MONDO_0015469", "parentIds": ["EFO_0000508", "MONDO_0018234"], "name": "craniosynostosis"} {"id": "MONDO_0015473", "parentIds": ["MONDO_0015159"], "name": "cryptorchidism-arachnodactyly-intellectual disability syndrome"} {"id": "MONDO_0015474", "parentIds": ["EFO_0009561", "EFO_0007212"], "name": "cryptosporidiosis"} {"id": "MONDO_0015476", "parentIds": ["MONDO_0019755"], "name": "cysts and fistulae of the face and oral cavity"} -{"id": "MONDO_0015480", "parentIds": ["MONDO_0015415"], "name": "coloboma of superior eyelid"} -{"id": "MONDO_0015481", "parentIds": ["MONDO_0015415"], "name": "coloboma of inferior eyelid"} -{"id": "MONDO_0015482", "parentIds": ["MONDO_0019755", "MONDO_0023369", "MONDO_0015961"], "name": "otomandibular dysplasia"} -{"id": "MONDO_0015483", "parentIds": ["MONDO_0015482"], "name": "mandibulofacial dysostosis"} -{"id": "MONDO_0015485", "parentIds": ["MONDO_0018174"], "name": "primary hereditary glaucoma"} +{"id": "MONDO_0015480", "parentIds": ["MONDO_0015411", "MONDO_0020357"], "name": "coloboma of superior eyelid"} +{"id": "MONDO_0015481", "parentIds": ["MONDO_0020357", "MONDO_0015411"], "name": "coloboma of inferior eyelid"} +{"id": "MONDO_0015483", "parentIds": ["OTAR_0000018"], "name": "mandibulofacial dysostosis"} {"id": "MONDO_0015486", "parentIds": ["EFO_0000508", "EFO_0009464"], "name": "keratoconus"} {"id": "MONDO_0015487", "parentIds": ["MONDO_0009637", "MONDO_0016387", "EFO_0002945"], "name": "fatal infantile encephalocardiomyopathy"} -{"id": "MONDO_0015488", "parentIds": ["EFO_0006803"], "name": "predominantly large-vessel vasculitis"} -{"id": "MONDO_0015489", "parentIds": ["EFO_0006803"], "name": "predominantly medium-vessel vasculitis"} -{"id": "MONDO_0015490", "parentIds": ["EFO_0006803"], "name": "predominantly small-vessel vasculitis"} -{"id": "MONDO_0015492", "parentIds": ["MONDO_0800113", "MONDO_0015490"], "name": "anti-neutrophil cytoplasmic antibody-associated vasculitis"} +{"id": "MONDO_0015492", "parentIds": ["MONDO_0800113"], "name": "anti-neutrophil cytoplasmic antibody-associated vasculitis"} {"id": "MONDO_0015493", "parentIds": ["MONDO_0020087"], "name": "lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy"} {"id": "MONDO_0015494", "parentIds": ["MONDO_0044807"], "name": "isolated dystonia"} -{"id": "MONDO_0015496", "parentIds": ["MONDO_0015961", "MONDO_0023369", "MONDO_0019755"], "name": "macroglossia"} -{"id": "MONDO_0015497", "parentIds": ["MONDO_0019755", "MONDO_0023369", "MONDO_0015961"], "name": "hypoglossia/aglossia"} -{"id": "MONDO_0015498", "parentIds": ["MONDO_0015497"], "name": "oromandibular-limb anomalies syndrome"} -{"id": "MONDO_0015499", "parentIds": ["MONDO_0015961", "MONDO_0019755", "MONDO_0023369"], "name": "paralytic facial malformation"} -{"id": "MONDO_0015503", "parentIds": ["MONDO_0019755"], "name": "nose and cavum anomaly"} -{"id": "MONDO_0015504", "parentIds": ["MONDO_0019755"], "name": "larynx anomaly"} -{"id": "MONDO_0015505", "parentIds": ["MONDO_0019755"], "name": "tracheal anomaly"} -{"id": "MONDO_0015508", "parentIds": ["EFO_0001421", "EFO_0000508"], "name": "hereditary parenchymatous liver disease"} -{"id": "MONDO_0015509", "parentIds": ["EFO_0009534", "EFO_0001421", "EFO_0000508"], "name": "hereditary biliary tract disease"} +{"id": "MONDO_0015496", "parentIds": ["MONDO_0023369", "MONDO_0019755"], "name": "macroglossia"} +{"id": "MONDO_0015498", "parentIds": ["MONDO_0018234"], "name": "oromandibular-limb anomalies syndrome"} {"id": "MONDO_0015514", "parentIds": ["EFO_0001379"], "name": "hereditary endocrine growth disease"} {"id": "MONDO_0015515", "parentIds": ["MONDO_0017716"], "name": "carnitine palmitoyltransferase II deficiency"} {"id": "MONDO_0015516", "parentIds": ["MONDO_0017424"], "name": "symbrachydactyly of hands and feet"} @@ -6634,8 +8647,8 @@ {"id": "MONDO_0015520", "parentIds": ["MONDO_0800448"], "name": "late infantile CACH syndrome"} {"id": "MONDO_0015521", "parentIds": ["MONDO_0800448"], "name": "juvenile or adult CACH syndrome"} {"id": "MONDO_0015523", "parentIds": ["MONDO_0002095", "MONDO_0021121"], "name": "epithelioid hemangioendothelioma"} -{"id": "MONDO_0015524", "parentIds": ["MONDO_0018188", "MONDO_0015185"], "name": "hyperplastic polyposis syndrome"} -{"id": "MONDO_0015525", "parentIds": ["MONDO_0015227", "MONDO_0018454"], "name": "congenital pseudoarthrosis of the limbs"} +{"id": "MONDO_0015524", "parentIds": ["EFO_0010282", "MONDO_0015185"], "name": "hyperplastic polyposis syndrome"} +{"id": "MONDO_0015525", "parentIds": ["EFO_0000508", "MONDO_0018234"], "name": "congenital pseudoarthrosis of the limbs"} {"id": "MONDO_0015526", "parentIds": ["MONDO_0018431"], "name": "cold-induced sweating syndrome"} {"id": "MONDO_0015530", "parentIds": ["MONDO_0017181", "MONDO_0043218", "EFO_0009569"], "name": "trigeminal autonomic cephalalgia"} {"id": "MONDO_0015531", "parentIds": ["EFO_0007352"], "name": "non-Langerhans cell histiocytosis"} @@ -6651,28 +8664,24 @@ {"id": "MONDO_0015562", "parentIds": ["MONDO_0016915"], "name": "distal monosomy 17q"} {"id": "MONDO_0015564", "parentIds": ["MONDO_0016537"], "name": "Castleman disease"} {"id": "MONDO_0015566", "parentIds": ["MONDO_0016901"], "name": "2q24 microdeletion syndrome"} -{"id": "MONDO_0015567", "parentIds": ["MONDO_0020145"], "name": "cataract-glaucoma syndrome"} +{"id": "MONDO_0015567", "parentIds": ["MONDO_0024458"], "name": "cataract-glaucoma syndrome"} {"id": "MONDO_0015571", "parentIds": ["MONDO_0016904"], "name": "deletion 5q35"} {"id": "MONDO_0015574", "parentIds": ["EFO_0003834"], "name": "chronic cutaneous lupus erythematosus"} {"id": "MONDO_0015579", "parentIds": ["MONDO_0015193", "MONDO_0011399"], "name": "Hb Bart's hydrops fetalis"} {"id": "MONDO_0015580", "parentIds": ["MONDO_0016906"], "name": "distal monosomy 7q36"} {"id": "MONDO_0015583", "parentIds": ["MONDO_0016884"], "name": "2p21 microdeletion syndrome"} {"id": "MONDO_0015585", "parentIds": ["MONDO_0020072"], "name": "cryptogenic late-onset epileptic spasms"} -{"id": "MONDO_0015586", "parentIds": ["MONDO_0017704"], "name": "benign familial mesial temporal lobe epilepsy"} {"id": "MONDO_0015587", "parentIds": ["MONDO_0020072"], "name": "rolandic epilepsy-speech dyspraxia syndrome"} -{"id": "MONDO_0015597", "parentIds": ["MONDO_0002406", "MONDO_0019268"], "name": "pustulosis palmaris et plantaris"} +{"id": "MONDO_0015597", "parentIds": ["EFO_0000676", "MONDO_0019268"], "name": "pustulosis palmaris et plantaris"} {"id": "MONDO_0015600", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability, Cilliers type"} {"id": "MONDO_0015601", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability, van Esch type"} -{"id": "MONDO_0015605", "parentIds": ["MONDO_0957025", "MONDO_0008013"], "name": "distal monosomy 9p"} +{"id": "MONDO_0015605", "parentIds": ["MONDO_0008013", "MONDO_0020040"], "name": "distal monosomy 9p"} {"id": "MONDO_0015606", "parentIds": ["MONDO_0017004"], "name": "Xp22.3 microdeletion syndrome"} {"id": "MONDO_0015607", "parentIds": ["MONDO_0000761", "MONDO_0700028", "EFO_0004248"], "name": "partial chromosome Y deletion"} -{"id": "MONDO_0015609", "parentIds": ["EFO_0000508", "MONDO_0024361"], "name": "advanced sleep phase syndrome"} +{"id": "MONDO_0015609", "parentIds": ["MONDO_0024361", "MONDO_0100545"], "name": "advanced sleep phase syndrome"} {"id": "MONDO_0015611", "parentIds": ["MONDO_0019245", "MONDO_0018117"], "name": "neutral lipid storage disease"} -{"id": "MONDO_0015612", "parentIds": ["EFO_1000647", "MONDO_0015962"], "name": "Dent disease"} -{"id": "MONDO_0015613", "parentIds": ["MONDO_0015668", "MONDO_0002220"], "name": "dentin dysplasia"} -{"id": "MONDO_0015617", "parentIds": ["MONDO_0015111"], "name": "hereditary gastro-esophageal disease"} -{"id": "MONDO_0015619", "parentIds": ["MONDO_0019356"], "name": "non-syndromic urogenital tract malformation"} -{"id": "MONDO_0015620", "parentIds": ["MONDO_0019356"], "name": "syndromic urogenital tract malformation"} +{"id": "MONDO_0015612", "parentIds": ["MONDO_0015962", "EFO_1000647"], "name": "Dent disease"} +{"id": "MONDO_0015613", "parentIds": ["MONDO_0002220"], "name": "dentin dysplasia"} {"id": "MONDO_0015624", "parentIds": ["MONDO_0019010"], "name": "diazoxide-sensitive diffuse hyperinsulinism"} {"id": "MONDO_0015625", "parentIds": ["MONDO_0017186"], "name": "diazoxide-resistant diffuse hyperinsulinism"} {"id": "MONDO_0015626", "parentIds": ["MONDO_0020127"], "name": "Charcot-Marie-Tooth disease"} @@ -6682,7 +8691,7 @@ {"id": "MONDO_0015630", "parentIds": ["MONDO_0013304"], "name": "von Willebrand disease type 2M"} {"id": "MONDO_0015631", "parentIds": ["MONDO_0013304"], "name": "von Willebrand disease type 2N"} {"id": "MONDO_0015632", "parentIds": ["MONDO_0016387"], "name": "FASTKD2-related infantile mitochondrial encephalomyopathy"} -{"id": "MONDO_0015634", "parentIds": ["MONDO_0042973", "MONDO_0008157", "MONDO_0001414"], "name": "isolated osteopoikilosis"} +{"id": "MONDO_0015634", "parentIds": ["MONDO_0001414"], "name": "isolated osteopoikilosis"} {"id": "MONDO_0015635", "parentIds": ["MONDO_0024247", "MONDO_0024482", "EFO_0009675"], "name": "porokeratotic eccrine ostial and dermal duct nevus"} {"id": "MONDO_0015637", "parentIds": ["MONDO_0015642"], "name": "benign non-familial infantile seizures"} {"id": "MONDO_0015638", "parentIds": ["MONDO_0015637"], "name": "benign partial epilepsy of infancy with complex partial seizures"} @@ -6692,20 +8701,19 @@ {"id": "MONDO_0015642", "parentIds": ["MONDO_0020071"], "name": "benign partial infantile seizures"} {"id": "MONDO_0015643", "parentIds": ["MONDO_0023224", "EFO_0009565"], "name": "photosensitive epilepsy"} {"id": "MONDO_0015650", "parentIds": ["EFO_0000474"], "name": "epilepsy syndrome"} -{"id": "MONDO_0015653", "parentIds": ["EFO_0000508", "EFO_0000474"], "name": "monogenic epilepsy"} -{"id": "MONDO_0015660", "parentIds": ["MONDO_0016054"], "name": "sporadic fetal brain disruption sequence"} -{"id": "MONDO_0015666", "parentIds": ["MONDO_0020294"], "name": "familial idiopathic dilatation of the right atrium"} +{"id": "MONDO_0015653", "parentIds": ["EFO_0000474"], "name": "monogenic epilepsy"} +{"id": "MONDO_0015660", "parentIds": ["EFO_0009386"], "name": "sporadic fetal brain disruption sequence"} +{"id": "MONDO_0015666", "parentIds": ["EFO_0005269"], "name": "familial idiopathic dilatation of the right atrium"} {"id": "MONDO_0015667", "parentIds": ["EFO_0000222"], "name": "acute myeloid leukemia by FAB classification"} -{"id": "MONDO_0015668", "parentIds": ["EFO_1001216"], "name": "hereditary dentin defect"} {"id": "MONDO_0015674", "parentIds": ["MONDO_0002561"], "name": "late infantile neuronal ceroid lipofuscinosis"} -{"id": "MONDO_0015678", "parentIds": ["MONDO_0019692"], "name": "dysplasia of head of femur, Meyer type"} -{"id": "MONDO_0015679", "parentIds": ["MONDO_0017057"], "name": "autosomal thrombocytopenia with normal platelets"} +{"id": "MONDO_0015678", "parentIds": ["MONDO_0018230"], "name": "dysplasia of head of femur, Meyer type"} {"id": "MONDO_0015681", "parentIds": ["MONDO_0000594"], "name": "childhood disintegrative disorder"} -{"id": "MONDO_0015682", "parentIds": ["EFO_0000616"], "name": "primary peritoneal tumor"} -{"id": "MONDO_0015683", "parentIds": ["MONDO_0015682"], "name": "primary malignant peritoneal tumor"} -{"id": "MONDO_0015686", "parentIds": ["MONDO_0015683", "MONDO_0002113"], "name": "primary peritoneal carcinoma"} -{"id": "MONDO_0015695", "parentIds": ["MONDO_0015823"], "name": "combined immunodeficiency due to CRAC channel dysfunction"} -{"id": "MONDO_0015697", "parentIds": ["MONDO_0015132"], "name": "immunoglobulin heavy chain deficiency"} +{"id": "MONDO_0015686", "parentIds": ["MONDO_0002113"], "name": "primary peritoneal carcinoma"} +{"id": "MONDO_0015688", "parentIds": ["MONDO_0015756", "MONDO_0044881"], "name": "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2"} +{"id": "MONDO_0015690", "parentIds": ["MONDO_0015688"], "name": "myeloid neoplasm associated with PDGFRB rearrangement"} +{"id": "MONDO_0015694", "parentIds": ["EFO_0000756"], "name": "malignant melanoma of the mucosa"} +{"id": "MONDO_0015695", "parentIds": ["MONDO_0015131"], "name": "combined immunodeficiency due to CRAC channel dysfunction"} +{"id": "MONDO_0015697", "parentIds": ["MONDO_0003778"], "name": "immunoglobulin heavy chain deficiency"} {"id": "MONDO_0015698", "parentIds": ["MONDO_0003827"], "name": "transient hypogammaglobulinemia of infancy"} {"id": "MONDO_0015699", "parentIds": ["MONDO_0003832"], "name": "immunodeficiency due to a classical component pathway complement deficiency"} {"id": "MONDO_0015700", "parentIds": ["MONDO_0003832"], "name": "immunodeficiency due to a late component of complement deficiency"} @@ -6715,7 +8723,7 @@ {"id": "MONDO_0015704", "parentIds": ["MONDO_0015338"], "name": "familial scaphocephaly syndrome"} {"id": "MONDO_0015705", "parentIds": ["MONDO_0100493", "MONDO_0018947"], "name": "autosomal recessive centronuclear myopathy"} {"id": "MONDO_0015706", "parentIds": ["MONDO_0700065", "MONDO_0700008"], "name": "mosaic trisomy 1"} -{"id": "MONDO_0015708", "parentIds": ["MONDO_0015823"], "name": "immuno-osseous dysplasia"} +{"id": "MONDO_0015708", "parentIds": ["MONDO_0003778"], "name": "immuno-osseous dysplasia"} {"id": "MONDO_0015712", "parentIds": ["MONDO_0016961"], "name": "non-distal trisomy 10q"} {"id": "MONDO_0015713", "parentIds": ["EFO_0009029"], "name": "idiopathic central precocious puberty"} {"id": "MONDO_0015715", "parentIds": ["MONDO_0010604"], "name": "severe hemophilia B"} @@ -6729,51 +8737,49 @@ {"id": "MONDO_0015723", "parentIds": ["MONDO_0016933"], "name": "trisomy 12p"} {"id": "MONDO_0015724", "parentIds": ["MONDO_0022177"], "name": "non-distal trisomy 13q"} {"id": "MONDO_0015725", "parentIds": ["MONDO_0700065", "MONDO_0700021"], "name": "mosaic trisomy 14"} -{"id": "MONDO_0015726", "parentIds": ["MONDO_0020165", "MONDO_0016964"], "name": "distal trisomy 14q"} +{"id": "MONDO_0015726", "parentIds": ["MONDO_0016964"], "name": "distal trisomy 14q"} {"id": "MONDO_0015727", "parentIds": ["MONDO_0700022", "MONDO_0700065"], "name": "mosaic trisomy 15"} {"id": "MONDO_0015728", "parentIds": ["MONDO_0017806"], "name": "distal trisomy 15q"} {"id": "MONDO_0015729", "parentIds": ["MONDO_0022180"], "name": "mosaic trisomy 16"} {"id": "MONDO_0015730", "parentIds": ["MONDO_0700065", "MONDO_0020583"], "name": "mosaic trisomy 17"} -{"id": "MONDO_0015731", "parentIds": ["MONDO_0018916"], "name": "high anorectal malformation"} -{"id": "MONDO_0015732", "parentIds": ["MONDO_0018916"], "name": "intermediate anorectal malformation"} -{"id": "MONDO_0015733", "parentIds": ["MONDO_0018916"], "name": "low anorectal malformation"} +{"id": "MONDO_0015731", "parentIds": ["OTAR_0000018"], "name": "high anorectal malformation"} +{"id": "MONDO_0015732", "parentIds": ["OTAR_0000018"], "name": "intermediate anorectal malformation"} +{"id": "MONDO_0015733", "parentIds": ["OTAR_0000018"], "name": "low anorectal malformation"} {"id": "MONDO_0015734", "parentIds": ["MONDO_0019938"], "name": "rectal duplication"} -{"id": "MONDO_0015735", "parentIds": ["MONDO_0016194", "MONDO_0018958", "MONDO_0018701", "MONDO_0016193", "MONDO_0002320"], "name": "severe congenital nemaline myopathy"} -{"id": "MONDO_0015736", "parentIds": ["MONDO_0017303", "MONDO_0016193", "MONDO_0002320", "MONDO_0016194", "MONDO_0018701"], "name": "intermediate nemaline myopathy"} -{"id": "MONDO_0015737", "parentIds": ["MONDO_0017303", "MONDO_0016194", "MONDO_0018958", "MONDO_0018701", "MONDO_0016193", "MONDO_0002320"], "name": "typical nemaline myopathy"} -{"id": "MONDO_0015738", "parentIds": ["MONDO_0002320", "MONDO_0016194", "MONDO_0018958", "MONDO_0016193", "MONDO_0017303"], "name": "childhood-onset nemaline myopathy"} -{"id": "MONDO_0015739", "parentIds": ["MONDO_0016194", "MONDO_0018958", "MONDO_0016193", "MONDO_0002320"], "name": "adult-onset nemaline myopathy"} +{"id": "MONDO_0015735", "parentIds": ["MONDO_0016194", "MONDO_0018958", "MONDO_0016193", "MONDO_0002320", "MONDO_0100545"], "name": "severe congenital nemaline myopathy"} +{"id": "MONDO_0015736", "parentIds": ["MONDO_0017303", "MONDO_0016193", "MONDO_0002320", "MONDO_0016194", "EFO_0004145"], "name": "intermediate nemaline myopathy"} +{"id": "MONDO_0015737", "parentIds": ["MONDO_0100545", "MONDO_0017303", "MONDO_0016194", "MONDO_0018958", "MONDO_0016193", "MONDO_0002320"], "name": "typical nemaline myopathy"} +{"id": "MONDO_0015738", "parentIds": ["MONDO_0002320", "MONDO_0016194", "MONDO_0018958", "MONDO_0016193", "MONDO_0017303", "MONDO_0100545"], "name": "childhood-onset nemaline myopathy"} +{"id": "MONDO_0015739", "parentIds": ["MONDO_0016194", "MONDO_0018958", "MONDO_0100545", "MONDO_0016193", "MONDO_0002320"], "name": "adult-onset nemaline myopathy"} {"id": "MONDO_0015740", "parentIds": ["MONDO_0016951"], "name": "trisomy 18p"} {"id": "MONDO_0015741", "parentIds": ["MONDO_0016968"], "name": "distal trisomy 18q"} {"id": "MONDO_0015744", "parentIds": ["MONDO_0016969"], "name": "distal trisomy 19q"} {"id": "MONDO_0015745", "parentIds": ["OTAR_0000018"], "name": "microcephaly-polymicrogyria-corpus callosum agenesis syndrome"} {"id": "MONDO_0015746", "parentIds": ["MONDO_0018394"], "name": "male infertility due to globozoospermia"} -{"id": "MONDO_0015748", "parentIds": ["EFO_0009675", "MONDO_0015950"], "name": "hereditary mucosal leukokeratosis"} +{"id": "MONDO_0015748", "parentIds": ["MONDO_0100118", "EFO_0009675"], "name": "hereditary mucosal leukokeratosis"} {"id": "MONDO_0015749", "parentIds": ["MONDO_0018354", "MONDO_0016905"], "name": "6q16 deletion syndrome"} {"id": "MONDO_0015751", "parentIds": ["MONDO_0015338"], "name": "craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome"} {"id": "MONDO_0015752", "parentIds": ["OTAR_0000018"], "name": "intellectual disability-cataracts-kyphosis syndrome"} {"id": "MONDO_0015753", "parentIds": ["MONDO_0100108", "MONDO_0100084"], "name": "cap myopathy"} {"id": "MONDO_0015755", "parentIds": ["MONDO_0019952"], "name": "myopathy with hexagonally cross-linked tubular arrays"} -{"id": "MONDO_0015756", "parentIds": ["MONDO_0019044"], "name": "myeloid hemopathy"} -{"id": "MONDO_0015757", "parentIds": ["MONDO_0019044"], "name": "lymphoid hemopathy"} +{"id": "MONDO_0015756", "parentIds": ["MONDO_0002334"], "name": "myeloid hemopathy"} +{"id": "MONDO_0015757", "parentIds": ["MONDO_0002334"], "name": "lymphoid hemopathy"} {"id": "MONDO_0015758", "parentIds": ["MONDO_0015760", "MONDO_0018898"], "name": "primary cutaneous T-cell lymphoma"} {"id": "MONDO_0015760", "parentIds": ["EFO_0005952"], "name": "T-cell non-Hodgkin lymphoma"} {"id": "MONDO_0015761", "parentIds": ["MONDO_0016947"], "name": "trisomy 10p"} {"id": "MONDO_0015762", "parentIds": ["MONDO_0017755", "MONDO_0017290"], "name": "progressive familial intrahepatic cholestasis"} {"id": "MONDO_0015763", "parentIds": ["MONDO_0700009", "MONDO_0700065"], "name": "mosaic trisomy 2"} {"id": "MONDO_0015764", "parentIds": ["MONDO_0022757"], "name": "mosaic trisomy 20"} -{"id": "MONDO_0015765", "parentIds": ["MONDO_0019952"], "name": "congenital myopathy with cores"} {"id": "MONDO_0015767", "parentIds": ["MONDO_0016941"], "name": "trisomy 4p"} {"id": "MONDO_0015768", "parentIds": ["MONDO_0019716", "MONDO_0016942"], "name": "trisomy 5p"} {"id": "MONDO_0015769", "parentIds": ["MONDO_0016943"], "name": "distal trisomy 6p"} -{"id": "MONDO_0015770", "parentIds": ["MONDO_0019824", "MONDO_0016072", "MONDO_0018555"], "name": "congenital hypogonadotropic hypogonadism"} +{"id": "MONDO_0015770", "parentIds": ["MONDO_0019824", "MONDO_0018555"], "name": "congenital hypogonadotropic hypogonadism"} {"id": "MONDO_0015771", "parentIds": ["MONDO_0700014", "MONDO_0700065"], "name": "mosaic trisomy 7"} {"id": "MONDO_0015772", "parentIds": ["MONDO_0016959"], "name": "trisomy 8q"} {"id": "MONDO_0015773", "parentIds": ["MONDO_0019054"], "name": "fibular dimelia-diplopodia syndrome"} -{"id": "MONDO_0015774", "parentIds": ["MONDO_0015212"], "name": "thoraco-abdominal enteric duplication"} +{"id": "MONDO_0015774", "parentIds": ["EFO_0010282"], "name": "thoraco-abdominal enteric duplication"} {"id": "MONDO_0015775", "parentIds": ["MONDO_0019701"], "name": "non-rhizomelic chondrodysplasia punctata"} -{"id": "MONDO_0015776", "parentIds": ["MONDO_0019701", "MONDO_0017986", "EFO_0003966"], "name": "rhizomelic chondrodysplasia punctata"} -{"id": "MONDO_0015778", "parentIds": ["MONDO_0016408"], "name": "syndromic hypothyroidism"} +{"id": "MONDO_0015776", "parentIds": ["MONDO_0017986", "EFO_0003966", "MONDO_0019701"], "name": "rhizomelic chondrodysplasia punctata"} {"id": "MONDO_0015779", "parentIds": ["MONDO_0001967", "MONDO_0017975"], "name": "45,X/46,XY mixed gonadal dysgenesis"} {"id": "MONDO_0015780", "parentIds": ["MONDO_0015356", "MONDO_0019287"], "name": "dyskeratosis congenita"} {"id": "MONDO_0015781", "parentIds": ["MONDO_0015159"], "name": "facial dysmorphism-shawl scrotum-joint laxity syndrome"} @@ -6785,6 +8791,7 @@ {"id": "MONDO_0015787", "parentIds": ["MONDO_0010602"], "name": "symptomatic form of hemophilia A in female carriers"} {"id": "MONDO_0015788", "parentIds": ["MONDO_0010604"], "name": "symptomatic form of hemophilia B in female carriers"} {"id": "MONDO_0015791", "parentIds": ["MONDO_0000088"], "name": "peripheral precocious puberty"} +{"id": "MONDO_0015792", "parentIds": ["MONDO_0018612"], "name": "transient congenital hypothyroidism"} {"id": "MONDO_0015793", "parentIds": ["MONDO_0018948"], "name": "moderate multiminicore disease with hand involvement"} {"id": "MONDO_0015794", "parentIds": ["MONDO_0018948"], "name": "antenatal multiminicore disease with arthrogryposis multiplex congenita"} {"id": "MONDO_0015797", "parentIds": ["EFO_1000017", "MONDO_0015951", "EFO_0008499"], "name": "UV-sensitive syndrome"} @@ -6793,157 +8800,137 @@ {"id": "MONDO_0015800", "parentIds": ["MONDO_0015338"], "name": "osteosclerosis-developmental delay-craniosynostosis syndrome"} {"id": "MONDO_0015801", "parentIds": ["MONDO_0002243", "MONDO_0002242"], "name": "hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"} {"id": "MONDO_0015802", "parentIds": ["MONDO_0000509", "MONDO_0100172"], "name": "autosomal dominant non-syndromic intellectual disability"} +{"id": "MONDO_0015804", "parentIds": ["MONDO_0015805"], "name": "infant botulism"} +{"id": "MONDO_0015805", "parentIds": ["MONDO_0016468"], "name": "intestinal botulism"} +{"id": "MONDO_0015806", "parentIds": ["MONDO_0015805"], "name": "adult intestinal botulism"} {"id": "MONDO_0015813", "parentIds": ["MONDO_0015819"], "name": "primary cutaneous marginal zone B-cell lymphoma"} {"id": "MONDO_0015816", "parentIds": ["MONDO_0015758"], "name": "indolent primary cutaneous T-cell lymphoma"} -{"id": "MONDO_0015817", "parentIds": ["MONDO_0015758"], "name": "aggressive primary cutaneous T-cell lymphoma"} -{"id": "MONDO_0015818", "parentIds": ["MONDO_0000621", "MONDO_0017595", "MONDO_0015820"], "name": "aggressive primary cutaneous B-cell lymphoma"} -{"id": "MONDO_0015819", "parentIds": ["MONDO_0017594", "MONDO_0000621", "MONDO_0015820"], "name": "indolent primary cutaneous B-cell lymphoma"} +{"id": "MONDO_0015819", "parentIds": ["MONDO_0017594", "MONDO_0000612", "MONDO_0015820"], "name": "indolent primary cutaneous B-cell lymphoma"} {"id": "MONDO_0015820", "parentIds": ["MONDO_0018898"], "name": "primary cutaneous B-cell lymphoma"} {"id": "MONDO_0015821", "parentIds": ["MONDO_0015816"], "name": "mycosis fungoides and variants"} -{"id": "MONDO_0015822", "parentIds": ["MONDO_0017769", "MONDO_0001475"], "name": "acquired neutropenia"} -{"id": "MONDO_0015823", "parentIds": ["MONDO_0003778"], "name": "primary immunodeficiency due to a defect in adaptive immunity"} -{"id": "MONDO_0015824", "parentIds": ["MONDO_0018454"], "name": "oculomaxillofacial dysostosis"} +{"id": "MONDO_0015824", "parentIds": ["MONDO_0018234", "MONDO_0023369", "EFO_0000508"], "name": "oculomaxillofacial dysostosis"} {"id": "MONDO_0015826", "parentIds": ["MONDO_0000426", "MONDO_0000359"], "name": "autosomal dominant spondylocostal dysostosis"} -{"id": "MONDO_0015827", "parentIds": ["MONDO_0017828"], "name": "distal renal tubular acidosis"} -{"id": "MONDO_0015828", "parentIds": ["EFO_0009549"], "name": "uterovaginal malformation"} -{"id": "MONDO_0015829", "parentIds": ["MONDO_0015932", "MONDO_0015828"], "name": "non-syndromic uterovaginal malformation"} +{"id": "MONDO_0015827", "parentIds": ["MONDO_0100191"], "name": "distal renal tubular acidosis"} {"id": "MONDO_0015830", "parentIds": ["MONDO_0019128"], "name": "partial bilateral aplasia of the mullerian ducts"} {"id": "MONDO_0015831", "parentIds": ["MONDO_0019128"], "name": "unilateral aplasia of the mullerian ducts"} {"id": "MONDO_0015832", "parentIds": ["MONDO_0015831"], "name": "true unicornuate uterus"} {"id": "MONDO_0015833", "parentIds": ["MONDO_0015831"], "name": "pseudounicornuate uterus"} -{"id": "MONDO_0015846", "parentIds": ["MONDO_0015828"], "name": "syndromic uterovaginal malformation"} -{"id": "MONDO_0015852", "parentIds": ["EFO_0009483", "EFO_0009549"], "name": "excess breast volume or number"} -{"id": "MONDO_0015853", "parentIds": ["EFO_0009549", "EFO_0009483"], "name": "deficient breast volume or number"} -{"id": "MONDO_0015855", "parentIds": ["MONDO_0015853", "EFO_0000508"], "name": "isolated congenital breast hypoplasia/aplasia"} -{"id": "MONDO_0015856", "parentIds": ["MONDO_0015853"], "name": "syndromic breast hypoplasia/aplasia"} -{"id": "MONDO_0015860", "parentIds": ["EFO_0009549"], "name": "anomaly of puberty or/and menstrual cycle"} +{"id": "MONDO_0015842", "parentIds": ["MONDO_0002654"], "name": "bicornuate uterus"} +{"id": "MONDO_0015843", "parentIds": ["MONDO_0002654"], "name": "uterine hypoplasia"} +{"id": "MONDO_0015855", "parentIds": ["EFO_0009483", "EFO_0000508"], "name": "isolated congenital breast hypoplasia/aplasia"} +{"id": "MONDO_0015856", "parentIds": ["EFO_0009483"], "name": "syndromic breast hypoplasia/aplasia"} {"id": "MONDO_0015864", "parentIds": ["EFO_1000352"], "name": "mixed germ cell tumor"} {"id": "MONDO_0015867", "parentIds": ["MONDO_0001402", "EFO_0000313"], "name": "vaginal carcinoma"} +{"id": "MONDO_0015871", "parentIds": ["MONDO_0037002", "MONDO_0000620", "MONDO_0021047"], "name": "benign breast phyllodes tumor"} {"id": "MONDO_0015883", "parentIds": ["MONDO_0019287"], "name": "hidrotic ectodermal dysplasia, Halal type"} {"id": "MONDO_0015884", "parentIds": ["MONDO_0000426", "MONDO_0016535"], "name": "autosomal dominant hypohidrotic ectodermal dysplasia"} {"id": "MONDO_0015892", "parentIds": ["MONDO_0015514"], "name": "growth hormone insensitivity syndrome"} {"id": "MONDO_0015898", "parentIds": ["MONDO_0045012", "EFO_0005539"], "name": "adrenogenital syndrome"} {"id": "MONDO_0015900", "parentIds": ["EFO_0005539"], "name": "hypoaldosteronism disease"} -{"id": "MONDO_0015902", "parentIds": ["MONDO_0021187"], "name": "major hypertriglyceridemia"} {"id": "MONDO_0015903", "parentIds": ["MONDO_0021187", "MONDO_0037748"], "name": 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"MONDO_0016200", "parentIds": ["MONDO_0016139"], "name": "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase"} -{"id": "MONDO_0016201", "parentIds": ["MONDO_0016139"], "name": "qualitative or quantitative defects of myotilin"} {"id": "MONDO_0016202", "parentIds": ["EFO_0005240", "MONDO_0000426"], "name": "autosomal dominant rhegmatogenous retinal detachment"} -{"id": "MONDO_0016203", "parentIds": ["EFO_0004911", "MONDO_0019218"], "name": "hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"} +{"id": "MONDO_0016203", "parentIds": ["MONDO_0019218", "EFO_0004911"], "name": "hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"} {"id": "MONDO_0016205", "parentIds": ["EFO_0003966"], "name": "IRVAN syndrome"} {"id": "MONDO_0016209", "parentIds": ["MONDO_0016210"], "name": "benign familial nocturnal alternating hemiplegia of childhood"} {"id": "MONDO_0016210", "parentIds": ["EFO_0010642"], "name": "alternating hemiplegia"} {"id": "MONDO_0016213", "parentIds": ["MONDO_0019289"], "name": "leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome"} -{"id": "MONDO_0016215", "parentIds": ["EFO_0000508", "MONDO_0000396"], "name": "spastic quadriplegic cerebral palsy"} +{"id": "MONDO_0016215", "parentIds": ["MONDO_0000396", "MONDO_0100545"], "name": "spastic quadriplegic cerebral palsy"} +{"id": "MONDO_0016216", "parentIds": ["EFO_0000182"], "name": "adult hepatocellular carcinoma"} {"id": "MONDO_0016222", "parentIds": ["EFO_0000705", "EFO_1000635"], "name": "spindle cell hemangioma"} {"id": "MONDO_0016223", "parentIds": ["EFO_1000635"], "name": "infantile hemangioma of rare localization"} -{"id": "MONDO_0016224", "parentIds": ["MONDO_0019079", "MONDO_0000426"], "name": "autosomal dominant proximal spinal muscular atrophy"} {"id": "MONDO_0016226", "parentIds": ["EFO_0000618"], "name": "specific language disorder"} {"id": "MONDO_0016227", "parentIds": ["EFO_0009671"], 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"name": "hemimelia"} +{"id": "MONDO_0016241", "parentIds": ["MONDO_0100500", "MONDO_0016210", "EFO_0009453"], "name": "alternating hemiplegia of childhood"} {"id": "MONDO_0016242", "parentIds": ["MONDO_0019050", "MONDO_0002280"], "name": "hemoglobin C disease"} {"id": "MONDO_0016243", "parentIds": ["MONDO_0019050", "MONDO_0002280"], "name": "hemoglobin E disease"} {"id": "MONDO_0016244", "parentIds": ["MONDO_0957097", "MONDO_0019737", "MONDO_0003832"], "name": "atypical hemolytic-uremic syndrome"} {"id": "MONDO_0016248", "parentIds": ["EFO_0000508", "MONDO_0008170"], "name": "familial ovarian cancer"} {"id": "MONDO_0016249", "parentIds": ["MONDO_0016248"], "name": "hereditary site-specific ovarian cancer syndrome"} {"id": "MONDO_0016255", "parentIds": ["MONDO_0021254", "MONDO_0021043"], "name": "uterine corpus mixed epithelial and mesenchymal neoplasm"} -{"id": "MONDO_0016256", "parentIds": ["MONDO_0019520", "MONDO_0015159", "MONDO_0009332", "MONDO_0019313", "MONDO_0015823"], "name": "Hennekam syndrome"} +{"id": "MONDO_0016256", "parentIds": ["MONDO_0015159", "MONDO_0019313"], "name": "Hennekam syndrome"} {"id": "MONDO_0016259", "parentIds": ["MONDO_0002879", "EFO_1000613"], "name": "carcinosarcoma of the corpus uteri"} {"id": "MONDO_0016260", "parentIds": ["EFO_0002914", "EFO_0002918", "MONDO_0004526"], "name": "uterine corpus rhabdomyosarcoma"} +{"id": "MONDO_0016263", "parentIds": ["EFO_0005235", "MONDO_0021254"], "name": "primitive neuroectodermal tumor of the corpus uteri"} +{"id": "MONDO_0016266", "parentIds": ["EFO_0007532", "EFO_0002919", "EFO_0000707"], "name": "squamous cell carcinoma of the corpus uteri"} +{"id": "MONDO_0016267", "parentIds": ["EFO_0002919", "EFO_0006772", "EFO_0007532"], "name": "undifferentiated carcinoma of the corpus uteri"} +{"id": "MONDO_0016268", "parentIds": ["EFO_0007532", "EFO_0002919", "EFO_1000646"], "name": "papillary carcinoma of the corpus uteri"} +{"id": "MONDO_0016271", "parentIds": ["EFO_0007532", "EFO_0002919", "EFO_0000231"], "name": "adenoid cystic carcinoma of the corpus uteri"} +{"id": "MONDO_0016272", "parentIds": ["EFO_1000601", "EFO_0007532", "EFO_0002919"], "name": "transitional cell carcinoma of the corpus uteri"} +{"id": "MONDO_0016273", "parentIds": ["EFO_1000352", "EFO_0007532"], "name": "malignant germ cell tumor of corpus uteri"} {"id": "MONDO_0016277", "parentIds": ["MONDO_0002974"], "name": "malignant mixed epithelial and mesenchymal tumor of cervix uteri"} -{"id": "MONDO_0016281", "parentIds": ["MONDO_0017961"], "name": "46,XX ovotesticular disorder of sex development"} +{"id": "MONDO_0016280", "parentIds": ["MONDO_0002974", "EFO_0000691"], "name": "sarcoma of cervix uteri"} +{"id": "MONDO_0016281", "parentIds": ["MONDO_0002145"], "name": "46,XX ovotesticular disorder of sex development"} +{"id": "MONDO_0016282", "parentIds": ["MONDO_0016280", "EFO_0002918"], "name": "rhabdomyosarcoma of the cervix uteri"} +{"id": "MONDO_0016283", "parentIds": ["MONDO_0016280", "EFO_0000564"], "name": "leiomyosarcoma of the cervix uteri"} +{"id": "MONDO_0016285", "parentIds": ["EFO_1000646", "EFO_0001061"], "name": "papillary carcinoma of the cervix uteri"} +{"id": "MONDO_0016289", "parentIds": ["MONDO_0002974", "EFO_1000352"], "name": "malignant germ cell tumor of cervix uteri"} {"id": "MONDO_0016290", "parentIds": ["MONDO_0015159", "MONDO_0020066"], "name": "Hernández-Aguirre Negrete syndrome"} {"id": "MONDO_0016291", "parentIds": ["MONDO_0015338"], "name": "craniosynostosis, Herrmann-Opitz type"} {"id": "MONDO_0016292", "parentIds": ["OTAR_0000018"], "name": "nodular neuronal heterotopia"} {"id": "MONDO_0016293", "parentIds": ["MONDO_0004587"], "name": "congenital stationary night blindness"} -{"id": "MONDO_0016294", "parentIds": ["MONDO_0015161", "MONDO_0015246", "MONDO_0021189"], "name": "Hirschsprung disease-type D brachydactyly syndrome"} +{"id": "MONDO_0016294", "parentIds": ["MONDO_0015161", "MONDO_0021189"], "name": "Hirschsprung disease-type D brachydactyly syndrome"} {"id": "MONDO_0016295", "parentIds": ["MONDO_0019245", "MONDO_0024237"], "name": "neuronal ceroid lipofuscinosis"} -{"id": "MONDO_0016296", "parentIds": ["MONDO_0018762", "MONDO_0017090", "MONDO_0002320", "MONDO_0957008", "MONDO_0015159"], "name": "holoprosencephaly"} +{"id": "MONDO_0016296", "parentIds": ["MONDO_0002320", "MONDO_0015159", "MONDO_0100545", "MONDO_0018762"], "name": "holoprosencephaly"} {"id": "MONDO_0016297", "parentIds": ["MONDO_0019497"], "name": "prelingual non-syndromic genetic hearing loss"} {"id": "MONDO_0016298", "parentIds": ["MONDO_0019497"], "name": "postlingual non-syndromic genetic hearing loss"} +{"id": "MONDO_0016301", "parentIds": ["MONDO_0000153"], "name": "congenitally corrected transposition of the great arteries"} {"id": "MONDO_0016302", "parentIds": ["MONDO_0019443"], "name": "isolated congenitally uncorrected transposition of the great arteries"} {"id": "MONDO_0016303", "parentIds": ["MONDO_0019443"], "name": "congenitally uncorrected transposition of the great arteries with cardiac malformation"} {"id": "MONDO_0016304", "parentIds": ["MONDO_0009319"], "name": "classic pantothenate kinase-associated neurodegeneration"} @@ -7025,72 +9015,68 @@ {"id": "MONDO_0016308", "parentIds": ["MONDO_0018982"], "name": "Niemann-Pick disease type C, late infantile neurologic onset"} {"id": "MONDO_0016309", "parentIds": ["MONDO_0018982"], "name": "Niemann-Pick disease type C, juvenile neurologic onset"} {"id": "MONDO_0016310", "parentIds": ["MONDO_0018982"], "name": "Niemann-Pick disease type C, adult neurologic onset"} +{"id": "MONDO_0016311", "parentIds": ["MONDO_0019293"], "name": "Bockenheimer syndrome"} {"id": "MONDO_0016315", "parentIds": ["MONDO_0010674"], "name": "mucopolysaccharidosis type 2, severe form"} {"id": "MONDO_0016316", "parentIds": ["MONDO_0010674"], "name": "mucopolysaccharidosis type 2, attenuated form"} {"id": "MONDO_0016319", "parentIds": ["MONDO_0002320", "MONDO_0015364"], "name": "congenital insensitivity to pain with hyperhidrosis"} {"id": "MONDO_0016322", "parentIds": ["MONDO_0017019", "EFO_0000536"], "name": "neuroendocrine cell hyperplasia of infancy"} -{"id": "MONDO_0016323", "parentIds": ["MONDO_0017031", "MONDO_0012580"], "name": "chronic respiratory distress with surfactant metabolism deficiency"} +{"id": "MONDO_0016323", "parentIds": ["MONDO_0012580"], "name": "chronic respiratory distress with surfactant metabolism deficiency"} {"id": "MONDO_0016330", "parentIds": ["EFO_0000538"], "name": "non-familial hypertrophic cardiomyopathy"} {"id": "MONDO_0016331", "parentIds": ["MONDO_0009229"], "name": "infantile systemic hyalinosis"} {"id": "MONDO_0016333", "parentIds": ["EFO_0002945", "EFO_0000407"], "name": "familial dilated cardiomyopathy"} {"id": "MONDO_0016338", "parentIds": ["EFO_0000407"], "name": "non-familial dilated cardiomyopathy"} {"id": "MONDO_0016340", "parentIds": ["EFO_0002630", "EFO_0002945"], "name": "familial restrictive cardiomyopathy"} {"id": "MONDO_0016342", "parentIds": ["EFO_0002945", "MONDO_0016587"], "name": "familial isolated arrhythmogenic right ventricular dysplasia"} -{"id": "MONDO_0016344", "parentIds": ["MONDO_0000819", "MONDO_0957008", "MONDO_0017103"], "name": "hydranencephaly"} -{"id": "MONDO_0016346", "parentIds": ["MONDO_0016565"], "name": "hydrocephalus-obesity-hypogonadism syndrome"} -{"id": "MONDO_0016349", "parentIds": ["EFO_0005774", "EFO_0000508", "MONDO_0002320"], "name": "congenital hydrocephalus"} +{"id": "MONDO_0016344", "parentIds": ["MONDO_0000819", "MONDO_0017103"], "name": "hydranencephaly"} +{"id": "MONDO_0016346", "parentIds": ["OTAR_0000018"], "name": "hydrocephalus-obesity-hypogonadism syndrome"} +{"id": "MONDO_0016349", "parentIds": ["EFO_0005774", "MONDO_0002320", "MONDO_0100545"], "name": "congenital hydrocephalus"} {"id": "MONDO_0016350", "parentIds": ["MONDO_0016349"], "name": "hydrocephalus-blue sclerae-nephropathy syndrome"} -{"id": "MONDO_0016352", "parentIds": ["MONDO_0015962"], "name": "idiopathic inherited hypercalciuria"} -{"id": "MONDO_0016353", "parentIds": ["MONDO_0007853"], "name": "palmoplantar keratoderma-spastic paralysis syndrome"} -{"id": "MONDO_0016354", "parentIds": ["MONDO_0020240", "MONDO_0015951"], "name": "xeroderma pigmentosum-Cockayne syndrome complex"} -{"id": "MONDO_0016355", "parentIds": ["MONDO_0016296"], "name": "semilobar holoprosencephaly"} +{"id": "MONDO_0016353", "parentIds": ["MONDO_0000426", "MONDO_0007853"], "name": "palmoplantar keratoderma-spastic paralysis syndrome"} +{"id": "MONDO_0016354", "parentIds": ["MONDO_0015951"], "name": "xeroderma pigmentosum-Cockayne syndrome complex"} {"id": "MONDO_0016357", "parentIds": ["MONDO_0019702"], "name": "dysplastic cortical hyperostosis"} +{"id": "MONDO_0016358", "parentIds": ["EFO_0000717"], "name": "limited cutaneous systemic sclerosis"} {"id": "MONDO_0016360", "parentIds": ["MONDO_0018795"], "name": "marcothrombocytopenia with mitral valve insufficiency"} -{"id": "MONDO_0016361", "parentIds": ["MONDO_0018796"], "name": "isolated hereditary giant platelet disorder"} {"id": "MONDO_0016362", "parentIds": ["MONDO_0021057"], "name": "attenuated familial adenomatous polyposis"} -{"id": "MONDO_0016364", "parentIds": ["MONDO_0020240", "MONDO_0020022", "MONDO_0015327", "MONDO_0015369"], "name": "Joubert syndrome with ocular defect"} +{"id": "MONDO_0016364", "parentIds": ["MONDO_0024458", "MONDO_0020022", "MONDO_0015369"], "name": "Joubert syndrome with ocular defect"} {"id": "MONDO_0016365", "parentIds": ["MONDO_0016166", "MONDO_0021360", "EFO_0008519"], "name": "familial primary hyperparathyroidism"} -{"id": "MONDO_0016366", "parentIds": ["MONDO_0018751", "MONDO_0009861", "MONDO_0015323", "MONDO_0015327", "MONDO_0016678"], "name": "maternal phenylketonuria"} +{"id": "MONDO_0016366", "parentIds": ["MONDO_0009861"], "name": "maternal phenylketonuria"} {"id": "MONDO_0016368", "parentIds": ["MONDO_0010002"], "name": "Rothmund-Thomson syndrome type 1"} {"id": "MONDO_0016369", "parentIds": ["MONDO_0010002", "EFO_0003966"], "name": "Rothmund-Thomson syndrome type 2"} {"id": "MONDO_0016374", "parentIds": ["EFO_0009430", "MONDO_0003569", "MONDO_0015923"], "name": "cranial neuralgia"} -{"id": "MONDO_0016375", "parentIds": ["MONDO_0015923"], "name": "acquired peripheral movement disorder"} {"id": "MONDO_0016377", "parentIds": ["MONDO_0015159"], "name": "Pitt-Hopkins-like syndrome"} {"id": "MONDO_0016381", "parentIds": ["MONDO_0019280", "MONDO_0019287"], "name": "hypertrichosis lanuginosa congenita"} {"id": "MONDO_0016382", "parentIds": ["MONDO_0019268"], "name": "hereditary poikiloderma"} {"id": "MONDO_0016383", "parentIds": ["MONDO_0015962", "MONDO_0001343", "MONDO_0004782"], "name": "nephrogenic diabetes insipidus"} {"id": "MONDO_0016384", "parentIds": ["MONDO_0015770"], "name": "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome"} {"id": "MONDO_0016385", "parentIds": ["OTAR_0000018"], "name": "hypogonadism-mitral valve prolapse-intellectual disability syndrome"} -{"id": "MONDO_0016386", "parentIds": ["MONDO_0020240", "MONDO_0015770"], "name": "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome"} +{"id": "MONDO_0016386", "parentIds": ["MONDO_0015770"], "name": "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome"} {"id": "MONDO_0016387", "parentIds": ["MONDO_0004069"], "name": "mitochondrial oxidative phosphorylation disorder"} {"id": "MONDO_0016390", "parentIds": ["MONDO_0016165", "MONDO_0019052"], "name": "familial hypoparathyroidism"} {"id": "MONDO_0016391", "parentIds": ["EFO_1001511"], "name": "neonatal diabetes mellitus"} {"id": "MONDO_0016393", "parentIds": ["MONDO_0011323", "MONDO_0015770"], "name": "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"} {"id": "MONDO_0016394", "parentIds": ["MONDO_0015518"], "name": "sporadic infantile bilateral striatal necrosis"} {"id": "MONDO_0016395", "parentIds": ["MONDO_0019118"], "name": "foveal hypoplasia-presenile cataract syndrome"} -{"id": "MONDO_0016396", "parentIds": ["MONDO_0015327", "MONDO_0020135", "MONDO_0019502", "MONDO_0016113", "MONDO_0024257", "MONDO_0015219"], "name": "pontocerebellar hypoplasia type 1"} +{"id": "MONDO_0016396", "parentIds": ["MONDO_0015327", "MONDO_0020135", "MONDO_0019502", "MONDO_0016113", "MONDO_0024257"], "name": "pontocerebellar hypoplasia type 1"} {"id": "MONDO_0016408", "parentIds": ["MONDO_0018612", "MONDO_0015514"], "name": "permanent congenital hypothyroidism"} -{"id": "MONDO_0016409", "parentIds": ["MONDO_0016408"], "name": "primary congenital hypothyroidism"} {"id": "MONDO_0016410", "parentIds": ["MONDO_0016408"], "name": "central congenital hypothyroidism"} {"id": "MONDO_0016411", "parentIds": ["MONDO_0016410"], "name": "hypothyroidism due to deficient transcription factors involved in pituitary development or function"} {"id": "MONDO_0016412", "parentIds": ["MONDO_0016408"], "name": "peripheral hypothyroidism"} {"id": "MONDO_0016414", "parentIds": ["OTAR_0000018"], "name": "hypotrichosis-intellectual disability, Lopes type"} -{"id": "MONDO_0016417", "parentIds": ["MONDO_0017270"], "name": "congenital ichthyosis-microcephalus-tetraplegia syndrome"} +{"id": "MONDO_0016417", "parentIds": ["OTAR_0000018"], "name": "congenital ichthyosis-microcephalus-tetraplegia syndrome"} +{"id": "MONDO_0016418", "parentIds": ["EFO_1001050"], "name": "multiple system atrophy, cerebellar type"} {"id": "MONDO_0016419", "parentIds": ["EFO_0000305", "EFO_0000508"], "name": "hereditary breast carcinoma"} {"id": "MONDO_0016420", "parentIds": ["MONDO_0020242"], "name": "familial flecked retinopathy"} {"id": "MONDO_0016424", "parentIds": ["EFO_0000538"], "name": "progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"} -{"id": "MONDO_0016428", "parentIds": ["EFO_0000618"], "name": "multiple sclerosis variant"} {"id": "MONDO_0016431", "parentIds": ["MONDO_0011674", "MONDO_0018993"], "name": "autosomal dominant Charcot-Marie-Tooth disease type 2M"} -{"id": "MONDO_0016432", "parentIds": ["MONDO_0018454", "MONDO_0019054"], "name": "heart-hand syndrome"} +{"id": "MONDO_0016432", "parentIds": ["EFO_0000508", "MONDO_0019054", "MONDO_0018234"], "name": "heart-hand syndrome"} {"id": "MONDO_0016433", "parentIds": ["MONDO_0020040", "MONDO_0015159"], "name": "dysmorphism-short stature-deafness-disorder of sex development syndrome"} -{"id": "MONDO_0016434", "parentIds": ["MONDO_0019292"], "name": "acquired dermis elastic tissue disorder"} {"id": "MONDO_0016441", "parentIds": ["MONDO_0024308"], "name": "acquired pseudoxanthoma elasticum"} -{"id": "MONDO_0016445", "parentIds": ["MONDO_0019292"], "name": "familial anetoderma"} -{"id": "MONDO_0016446", "parentIds": ["MONDO_0016434", "MONDO_0016175"], "name": "acquired cutis laxa"} +{"id": "MONDO_0016445", "parentIds": ["MONDO_0021154"], "name": "familial anetoderma"} +{"id": "MONDO_0016446", "parentIds": ["MONDO_0016175"], "name": "acquired cutis laxa"} {"id": "MONDO_0016450", "parentIds": ["EFO_1001264"], "name": "autoimmune hemolytic anemia, cold type"} {"id": "MONDO_0016454", "parentIds": ["MONDO_0018993"], "name": "Charcot-Marie-Tooth disease type 2B5"} {"id": "MONDO_0016456", "parentIds": ["MONDO_0015159", "MONDO_0016904"], "name": "5q14.3 microdeletion syndrome"} -{"id": "MONDO_0016457", "parentIds": ["MONDO_0020195", "MONDO_0020158"], "name": "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"} +{"id": "MONDO_0016457", "parentIds": ["OTAR_0000018"], "name": "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"} {"id": "MONDO_0016458", "parentIds": ["MONDO_0016959"], "name": "8q12 microduplication syndrome"} {"id": "MONDO_0016459", "parentIds": ["MONDO_0016901"], "name": "2q23.1 microdeletion syndrome"} {"id": "MONDO_0016460", "parentIds": ["EFO_0003777", "MONDO_0015160"], "name": "polyvalvular heart disease syndrome"} @@ -7098,10 +9084,11 @@ {"id": "MONDO_0016462", "parentIds": ["MONDO_0015977"], "name": "isolated agammaglobulinemia"} {"id": "MONDO_0016463", "parentIds": ["MONDO_0015977"], "name": "syndromic agammaglobulinemia"} {"id": "MONDO_0016464", "parentIds": ["MONDO_0001933"], "name": "insulin-resistance syndrome type B"} +{"id": "MONDO_0016468", "parentIds": ["EFO_0005542"], "name": "toxin-mediated infectious botulism"} {"id": "MONDO_0016469", "parentIds": ["EFO_0004264", "MONDO_0020066"], "name": "Ehlers-Danlos syndrome, vascular-like type"} {"id": "MONDO_0016470", "parentIds": ["MONDO_0020066"], "name": "Ehlers-Danlos/osteogenesis imperfecta syndrome"} {"id": "MONDO_0016471", "parentIds": ["MONDO_0017672"], "name": "pachyonychia congenita"} -{"id": "MONDO_0016473", "parentIds": ["MONDO_0017127", "EFO_0005701", "MONDO_0100191", "MONDO_0015356"], "name": "familial rhabdoid tumor"} +{"id": "MONDO_0016473", "parentIds": ["EFO_0005701", "MONDO_0015356"], "name": "familial rhabdoid tumor"} {"id": "MONDO_0016474", "parentIds": ["MONDO_0004670"], "name": "drug-induced lupus erythematosus"} {"id": "MONDO_0016475", "parentIds": ["MONDO_0007534"], "name": "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"} {"id": "MONDO_0016476", "parentIds": ["MONDO_0007534"], "name": "Beckwith-Wiedemann syndrome due to CDKN1C mutation"} @@ -7111,7 +9098,7 @@ {"id": "MONDO_0016480", "parentIds": ["MONDO_0008394"], "name": "silver-Russell syndrome due to an imprinting defect of 11p15"} {"id": "MONDO_0016481", "parentIds": ["MONDO_0008394", "MONDO_0016948"], "name": "silver-Russell syndrome due to 11p15 microduplication"} {"id": "MONDO_0016482", "parentIds": ["MONDO_0700086", "MONDO_0008394", "MONDO_0700018"], "name": "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"} -{"id": "MONDO_0016483", "parentIds": ["EFO_0003870", "MONDO_0015145", "EFO_0000508"], "name": "intracranial berry aneurysm"} +{"id": "MONDO_0016483", "parentIds": ["EFO_0003870", "MONDO_0100545"], "name": "intracranial berry aneurysm"} {"id": "MONDO_0016484", "parentIds": ["MONDO_0019501"], "name": "Usher syndrome type 2"} {"id": "MONDO_0016485", "parentIds": ["MONDO_0019501"], "name": "Usher syndrome type 3"} {"id": "MONDO_0016486", "parentIds": ["MONDO_0013517"], "name": "beta-thalassemia major"} @@ -7119,36 +9106,30 @@ {"id": "MONDO_0016489", "parentIds": ["MONDO_0017145"], "name": "delta-beta-thalassemia"} {"id": "MONDO_0016490", "parentIds": ["MONDO_0017145"], "name": "hemoglobin C-beta-thalassemia syndrome"} {"id": "MONDO_0016491", "parentIds": ["MONDO_0017145"], "name": "hemoglobin E-beta-thalassemia syndrome"} -{"id": "MONDO_0016493", "parentIds": ["EFO_0007292"], "name": "variant of Guillain-Barre syndrome"} -{"id": "MONDO_0016494", "parentIds": ["MONDO_0016493"], "name": "regional variant of Guillain-Barre syndrome"} {"id": "MONDO_0016501", "parentIds": ["MONDO_0019312", "MONDO_0017014"], "name": "Hermansky-Pudlak syndrome with pulmonary fibrosis"} {"id": "MONDO_0016502", "parentIds": ["MONDO_0019312"], "name": "Hermansky-Pudlak syndrome without pulmonary fibrosis"} -{"id": "MONDO_0016510", "parentIds": ["MONDO_0015334"], "name": "epibulbar lipodermoid-preauricular appendage-polythelia syndrome"} -{"id": "MONDO_0016511", "parentIds": ["EFO_0005741", "MONDO_0019755"], "name": "infectious embryofetopathy"} -{"id": "MONDO_0016512", "parentIds": ["EFO_0000508", "MONDO_0015159"], "name": "Kabuki syndrome"} -{"id": "MONDO_0016513", "parentIds": ["MONDO_0017144"], "name": "alpha-thalassemia-related diseases"} +{"id": "MONDO_0016510", "parentIds": ["OTAR_0000018"], "name": "epibulbar lipodermoid-preauricular appendage-polythelia syndrome"} +{"id": "MONDO_0016511", "parentIds": ["MONDO_0019755", "EFO_0005741"], "name": "infectious embryofetopathy"} +{"id": "MONDO_0016512", "parentIds": ["MONDO_0015159", "EFO_0000508"], "name": "Kabuki syndrome"} {"id": "MONDO_0016514", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex with anodontia/hypodontia"} {"id": "MONDO_0016515", "parentIds": ["MONDO_0015160", "MONDO_0015770"], "name": "Kallmann syndrome-heart disease syndrome"} -{"id": "MONDO_0016516", "parentIds": ["MONDO_0019699"], "name": "Kenny-Caffey syndrome"} -{"id": "MONDO_0016518", "parentIds": ["MONDO_0017675"], "name": "isolated punctate palmoplantar keratoderma"} -{"id": "MONDO_0016520", "parentIds": ["MONDO_0001029"], "name": "isolated Klippel-Feil syndrome"} -{"id": "MONDO_0016521", "parentIds": ["MONDO_0015778"], "name": "muscular pseudohypertrophy-hypothyroidism syndrome"} -{"id": "MONDO_0016524", "parentIds": ["EFO_0004260"], "name": "congenital vascular bone syndrome"} -{"id": "MONDO_0016525", "parentIds": ["MONDO_0001422", "EFO_0000508", "EFO_0009452"], "name": "familial hyperaldosteronism"} +{"id": "MONDO_0016516", "parentIds": ["MONDO_0800063"], "name": "Kenny-Caffey syndrome"} +{"id": "MONDO_0016521", "parentIds": ["EFO_0001379"], "name": "muscular pseudohypertrophy-hypothyroidism syndrome"} +{"id": "MONDO_0016523", "parentIds": ["EFO_0000684"], "name": "bronchogenic cyst"} +{"id": "MONDO_0016525", "parentIds": ["MONDO_0001422", "EFO_0000508"], "name": "familial hyperaldosteronism"} {"id": "MONDO_0016526", "parentIds": ["MONDO_0700043"], "name": "trisomy 9p"} {"id": "MONDO_0016527", "parentIds": ["MONDO_0002412"], "name": "glycogen storage disease due to lactate dehydrogenase deficiency"} -{"id": "MONDO_0016529", "parentIds": ["MONDO_0019720"], "name": "duplication of urethra"} -{"id": "MONDO_0016531", "parentIds": ["MONDO_0015211"], "name": "digestive duplication"} +{"id": "MONDO_0016529", "parentIds": ["EFO_0003086"], "name": "duplication of urethra"} +{"id": "MONDO_0016531", "parentIds": ["EFO_0010282"], "name": "digestive duplication"} {"id": "MONDO_0016532", "parentIds": ["MONDO_0100062", "MONDO_0020072", "MONDO_0000414"], "name": "Lennox-Gastaut syndrome"} {"id": "MONDO_0016533", "parentIds": ["MONDO_0007099"], "name": "apolipoprotein A-II amyloidosis"} -{"id": "MONDO_0016535", "parentIds": ["MONDO_0019287", "MONDO_0020194"], "name": "hypohidrotic ectodermal dysplasia"} -{"id": "MONDO_0016536", "parentIds": ["MONDO_0016537"], "name": "autosomal recessive lymphoproliferative disease"} +{"id": "MONDO_0016535", "parentIds": ["MONDO_0019287"], "name": "hypohidrotic ectodermal dysplasia"} {"id": "MONDO_0016537", "parentIds": ["MONDO_0003778"], "name": "lymphoproliferative syndrome"} {"id": "MONDO_0016539", "parentIds": ["MONDO_0011669"], "name": "atypical hypotonia-cystinuria syndrome"} {"id": "MONDO_0016540", "parentIds": ["MONDO_0009332", "MONDO_0020115"], "name": "congenital secondary polycythemia"} {"id": "MONDO_0016541", "parentIds": ["MONDO_0020115", "MONDO_0002438"], "name": "acquired secondary polycythemia"} {"id": "MONDO_0016542", "parentIds": ["MONDO_0003778", "EFO_0005755", "EFO_0003767", "MONDO_0023603"], "name": "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"} -{"id": "MONDO_0016543", "parentIds": ["EFO_1000017", "MONDO_0017756"], "name": "hyperphenylalaninemia due to tetrahydrobiopterin deficiency"} +{"id": "MONDO_0016543", "parentIds": ["EFO_1000017", "MONDO_0004736"], "name": "hyperphenylalaninemia due to tetrahydrobiopterin deficiency"} {"id": "MONDO_0016545", "parentIds": ["EFO_1000017"], "name": "leukoencephalopathy-palmoplantar keratoderma syndrome"} {"id": "MONDO_0016547", "parentIds": ["MONDO_0007534"], "name": "Beckwith-Wiedemann syndrome due to NSD1 mutation"} {"id": "MONDO_0016549", "parentIds": ["MONDO_0018960"], "name": "primary megaureter, adult-onset form"} @@ -7157,31 +9138,27 @@ {"id": "MONDO_0016552", "parentIds": ["MONDO_0018960"], "name": "congenital primary megaureter, nonrefluxing and unobstructed form"} {"id": "MONDO_0016553", "parentIds": ["MONDO_0015770"], "name": "isolated congenital hypogonadotropic hypogonadism"} {"id": "MONDO_0016557", "parentIds": ["MONDO_0019284"], "name": "leukonychia totalis"} -{"id": "MONDO_0016558", "parentIds": ["MONDO_0002320", "EFO_0000508", "EFO_0004280"], "name": "familial congenital mirror movements"} +{"id": "MONDO_0016558", "parentIds": ["MONDO_0100545", "MONDO_0002320", "EFO_0004280"], "name": "familial congenital mirror movements"} {"id": "MONDO_0016559", "parentIds": ["MONDO_0009633", "MONDO_0018174"], "name": "glaucoma secondary to spherophakia/ectopia lentis and megalocornea"} {"id": "MONDO_0016560", "parentIds": ["MONDO_0015159"], "name": "ptosis-syndactyly-learning difficulties syndrome"} {"id": "MONDO_0016561", "parentIds": ["MONDO_0022756"], "name": "1q44 microdeletion syndrome"} {"id": "MONDO_0016562", "parentIds": ["MONDO_0020488"], "name": "progressive supranuclear palsy-pure akinesia with gait freezing syndrome"} {"id": "MONDO_0016563", "parentIds": ["MONDO_0020488"], "name": "progressive supranuclear palsy-corticobasal syndrome"} {"id": "MONDO_0016564", "parentIds": ["MONDO_0020488"], "name": "progressive supranuclear palsy-progressive non-fluent aphasia syndrome"} -{"id": "MONDO_0016565", "parentIds": ["MONDO_0019182", "MONDO_0015330"], "name": "syndromic genetic obesity"} -{"id": "MONDO_0016568", "parentIds": ["MONDO_0015246"], "name": "Lowe-Kohn-Cohen syndrome"} +{"id": "MONDO_0016568", "parentIds": ["OTAR_0000018"], "name": "Lowe-Kohn-Cohen syndrome"} {"id": "MONDO_0016571", "parentIds": ["MONDO_0002320", "MONDO_0020022", "MONDO_0015159"], "name": "macrocephaly-short stature-paraplegia syndrome"} {"id": "MONDO_0016572", "parentIds": ["MONDO_0017094"], "name": "central bilateral macrogyria"} {"id": "MONDO_0016574", "parentIds": ["MONDO_0019288"], "name": "hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome"} {"id": "MONDO_0016575", "parentIds": ["EFO_0000684", "EFO_0003900"], "name": "primary ciliary dyskinesia"} -{"id": "MONDO_0016576", "parentIds": ["MONDO_0017423", "MONDO_0018454"], "name": "split hand-foot malformation"} -{"id": "MONDO_0016579", "parentIds": ["MONDO_0015962"], "name": "dominant hypophosphatemia with nephrolithiasis or osteoporosis"} -{"id": "MONDO_0016581", "parentIds": ["MONDO_0020285"], "name": "conotruncal heart malformations"} -{"id": "MONDO_0016583", "parentIds": ["MONDO_0015212", "MONDO_0008666"], "name": "familial intestinal malrotation-facial anomalies syndrome"} +{"id": "MONDO_0016576", "parentIds": ["EFO_0000508", "MONDO_0018234"], "name": "split hand-foot malformation"} +{"id": "MONDO_0016581", "parentIds": ["EFO_0005269"], "name": "conotruncal heart malformations"} +{"id": "MONDO_0016583", "parentIds": ["MONDO_0008666"], "name": "familial intestinal malrotation-facial anomalies syndrome"} {"id": "MONDO_0016584", "parentIds": ["MONDO_0019707", "MONDO_0020087", "MONDO_0015161", "MONDO_0015327"], "name": "mandibuloacral dysplasia"} {"id": "MONDO_0016586", "parentIds": ["EFO_0009001"], "name": "systemic mastocytosis"} {"id": "MONDO_0016587", "parentIds": ["MONDO_0000591"], "name": "arrhythmogenic right ventricular cardiomyopathy"} -{"id": "MONDO_0016589", "parentIds": ["OTAR_0000018"], "name": "progressive cerebello-cerebral atrophy"} {"id": "MONDO_0016593", "parentIds": ["MONDO_0100308"], "name": "acquired ataxia"} -{"id": "MONDO_0016596", "parentIds": ["MONDO_0017748", "MONDO_0018454", "MONDO_0019054", "MONDO_0018292"], "name": "hyperphosphatasia-intellectual disability syndrome"} +{"id": "MONDO_0016596", "parentIds": ["MONDO_0015905", "MONDO_0017748", "MONDO_0015327", "MONDO_0019054"], "name": "hyperphosphatasia-intellectual disability syndrome"} {"id": "MONDO_0016598", "parentIds": ["MONDO_0016540"], "name": "autosomal recessive secondary polycythemia not associated with VHL gene"} -{"id": "MONDO_0016599", "parentIds": ["MONDO_0001115", "MONDO_0000426", "MONDO_0016540"], "name": "autosomal dominant secondary polycythemia"} {"id": "MONDO_0016600", "parentIds": ["MONDO_0008988"], "name": "acute neonatal citrullinemia type I"} {"id": "MONDO_0016601", "parentIds": ["MONDO_0008988"], "name": "adult-onset citrullinemia type I"} {"id": "MONDO_0016602", "parentIds": ["MONDO_0800153", "MONDO_0015991"], "name": "citrin deficiency"} @@ -7189,7 +9166,7 @@ {"id": "MONDO_0016604", "parentIds": ["EFO_0000508"], "name": "dysraphism-cleft lip/palate-limb reduction defects syndrome"} {"id": "MONDO_0016605", "parentIds": ["MONDO_0018570"], "name": "perinatal lethal hypophosphatasia"} {"id": "MONDO_0016607", "parentIds": ["MONDO_0018570"], "name": "odontohypophosphatasia"} -{"id": "MONDO_0016608", "parentIds": ["MONDO_0016054"], "name": "megalencephaly"} +{"id": "MONDO_0016608", "parentIds": ["EFO_0005774"], "name": "megalencephaly"} {"id": "MONDO_0016611", "parentIds": ["MONDO_0044335", "MONDO_0044983"], "name": "lipoblastoma"} {"id": "MONDO_0016612", "parentIds": ["MONDO_0000425", "MONDO_0100310"], "name": "X-linked cerebellar ataxia"} {"id": "MONDO_0016613", "parentIds": ["MONDO_0021056"], "name": "APC-related attenuated familial adenomatous polyposis"} @@ -7197,20 +9174,19 @@ {"id": "MONDO_0016619", "parentIds": ["EFO_1000017", "MONDO_0016535"], "name": "autosomal recessive hypohidrotic ectodermal dysplasia"} {"id": "MONDO_0016620", "parentIds": ["EFO_0000508"], "name": "primary hypertrophic osteoarthropathy"} {"id": "MONDO_0016621", "parentIds": ["MONDO_0007739"], "name": "juvenile Huntington disease"} -{"id": "MONDO_0016622", "parentIds": ["MONDO_0018454"], "name": "Melhem-Fahl syndrome"} +{"id": "MONDO_0016622", "parentIds": ["MONDO_0018234", "EFO_0000508"], "name": "Melhem-Fahl syndrome"} {"id": "MONDO_0016624", "parentIds": ["MONDO_0001639", "EFO_0000508"], "name": "inherited deficiency anemia"} {"id": "MONDO_0016625", "parentIds": ["MONDO_0001639"], "name": "acquired deficiency anemia"} -{"id": "MONDO_0016630", "parentIds": ["MONDO_0018796"], "name": "isolated delta-storage pool disease"} +{"id": "MONDO_0016630", "parentIds": ["MONDO_0100241"], "name": "isolated delta-storage pool disease"} {"id": "MONDO_0016638", "parentIds": ["MONDO_0008737"], "name": "familial hypodysfibrinogenemia"} -{"id": "MONDO_0016639", "parentIds": ["MONDO_0015620"], "name": "lower limb deficiency-hypospadias syndrome"} -{"id": "MONDO_0016641", "parentIds": ["MONDO_0018454", "MONDO_0019054"], "name": "limb transversal defect-cardiac anomaly syndrome"} +{"id": "MONDO_0016639", "parentIds": ["OTAR_0000018"], "name": "lower limb deficiency-hypospadias syndrome"} +{"id": "MONDO_0016641", "parentIds": ["MONDO_0019054", "EFO_0000508", "MONDO_0018234"], "name": "limb transversal defect-cardiac anomaly syndrome"} {"id": "MONDO_0016642", "parentIds": ["EFO_0003851"], "name": "meningioma"} -{"id": "MONDO_0016643", "parentIds": ["MONDO_0018454"], "name": "frontonasal dysplasia"} +{"id": "MONDO_0016643", "parentIds": ["EFO_0000508", "MONDO_0018234"], "name": "frontonasal dysplasia"} {"id": "MONDO_0016646", "parentIds": ["MONDO_0016387", "MONDO_0020250"], "name": "autosomal dominant optic atrophy and peripheral neuropathy"} -{"id": "MONDO_0016647", "parentIds": ["EFO_1000017", "MONDO_0019692", "MONDO_0019354"], "name": "autosomal recessive Stickler syndrome"} -{"id": "MONDO_0016648", "parentIds": ["MONDO_0019692", "EFO_0005571"], "name": "multiple epiphyseal dysplasia"} -{"id": "MONDO_0016649", "parentIds": ["MONDO_0016073", "EFO_1000017", "MONDO_0018838", "MONDO_0015159"], "name": "Warburg micro syndrome"} -{"id": "MONDO_0016650", "parentIds": ["MONDO_0700008", "MONDO_0700086"], "name": "paternal uniparental disomy of chromosome 1"} +{"id": "MONDO_0016648", "parentIds": ["EFO_0005571", "MONDO_0018230"], "name": "multiple epiphyseal dysplasia"} +{"id": "MONDO_0016649", "parentIds": ["EFO_1000017", "MONDO_0700247", "MONDO_0018838", "MONDO_0015159"], "name": "Warburg micro syndrome"} +{"id": "MONDO_0016650", "parentIds": ["MONDO_0700086", "MONDO_0700008"], "name": "paternal uniparental disomy of chromosome 1"} {"id": "MONDO_0016651", "parentIds": ["MONDO_0700008", "MONDO_0700086"], "name": "maternal uniparental disomy of chromosome 1"} {"id": "MONDO_0016652", "parentIds": ["MONDO_0016901"], "name": "2q31.1 microdeletion syndrome"} {"id": "MONDO_0016653", "parentIds": ["MONDO_0016901"], "name": "2q33.1 microdeletion syndrome"} @@ -7218,22 +9194,21 @@ {"id": "MONDO_0016655", "parentIds": ["MONDO_0016888"], "name": "6p22 microdeletion syndrome"} {"id": "MONDO_0016656", "parentIds": ["MONDO_0016906"], "name": "7q31 microdeletion syndrome"} {"id": "MONDO_0016657", "parentIds": ["MONDO_0016890"], "name": "8p11.2 deletion syndrome"} -{"id": "MONDO_0016658", "parentIds": ["MONDO_0015620", "MONDO_0016890"], "name": "8p23.1 microdeletion syndrome"} +{"id": "MONDO_0016658", "parentIds": ["MONDO_0016890"], "name": "8p23.1 microdeletion syndrome"} {"id": "MONDO_0016659", "parentIds": ["MONDO_0016945"], "name": "8p23.1 duplication syndrome"} -{"id": "MONDO_0016660", "parentIds": ["MONDO_0100500", "MONDO_0957008", "MONDO_0016056", "EFO_1000017"], "name": "autosomal recessive primary microcephaly"} +{"id": "MONDO_0016660", "parentIds": ["MONDO_0100500", "MONDO_0016056", "EFO_1000017"], "name": "autosomal recessive primary microcephaly"} {"id": "MONDO_0016663", "parentIds": ["EFO_0005809", "EFO_1001986"], "name": "overlapping connective tissue disease"} -{"id": "MONDO_0016667", "parentIds": ["MONDO_0017146"], "name": "sickle cell disease associated with an other hemoglobin anomaly"} -{"id": "MONDO_0016668", "parentIds": ["MONDO_0016667"], "name": "sickle cell-beta-thalassemia disease syndrome"} -{"id": "MONDO_0016669", "parentIds": ["MONDO_0016667"], "name": "sickle cell-hemoglobin c disease syndrome"} -{"id": "MONDO_0016670", "parentIds": ["MONDO_0016667"], "name": "sickle cell-hemoglobin d disease syndrome"} -{"id": "MONDO_0016671", "parentIds": ["MONDO_0016667"], "name": "sickle cell-hemoglobin E disease syndrome"} -{"id": "MONDO_0016672", "parentIds": ["MONDO_0016667"], "name": "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"} +{"id": "MONDO_0016664", "parentIds": ["MONDO_0018640"], "name": "drug-induced vasculitis"} +{"id": "MONDO_0016668", "parentIds": ["MONDO_0019050"], "name": "sickle cell-beta-thalassemia disease syndrome"} +{"id": "MONDO_0016669", "parentIds": ["MONDO_0011382"], "name": "sickle cell-hemoglobin c disease syndrome"} +{"id": "MONDO_0016670", "parentIds": ["MONDO_0019050"], "name": "sickle cell-hemoglobin d disease syndrome"} +{"id": "MONDO_0016671", "parentIds": ["MONDO_0019050"], "name": "sickle cell-hemoglobin E disease syndrome"} +{"id": "MONDO_0016672", "parentIds": ["MONDO_0019050"], "name": "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"} {"id": "MONDO_0016673", "parentIds": ["MONDO_0009180"], "name": "localized junctional epidermolysis bullosa, non-Herlitz type"} -{"id": "MONDO_0016674", "parentIds": ["MONDO_0017966"], "name": "46,XY partial gonadal dysgenesis"} +{"id": "MONDO_0016674", "parentIds": ["MONDO_0020040"], "name": "46,XY partial gonadal dysgenesis"} {"id": "MONDO_0016675", "parentIds": ["MONDO_0019942"], "name": "distal arthrogryposis type 10"} {"id": "MONDO_0016676", "parentIds": ["MONDO_0017764", "MONDO_0008691"], "name": "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome"} {"id": "MONDO_0016677", "parentIds": ["MONDO_0019755"], "name": "toxic or drug-related embryofetopathy"} -{"id": "MONDO_0016678", "parentIds": ["MONDO_0019755"], "name": "maternal disease-related embryofetopathy"} {"id": "MONDO_0016680", "parentIds": ["MONDO_0100342", "MONDO_0021636"], "name": "high grade astrocytic tumor"} {"id": "MONDO_0016683", "parentIds": ["MONDO_0005499", "MONDO_0016680"], "name": "gliomatosis cerebri"} {"id": "MONDO_0016685", "parentIds": ["EFO_0000272", "MONDO_0021638"], "name": "low-grade astrocytoma"} @@ -7243,40 +9218,38 @@ {"id": "MONDO_0016693", "parentIds": ["MONDO_0016685", "EFO_1000553"], "name": "subependymal giant cell astrocytoma"} {"id": "MONDO_0016697", "parentIds": ["EFO_1000028"], "name": "low grade ependymoma"} {"id": "MONDO_0016700", "parentIds": ["EFO_1000027", "MONDO_0020633", "MONDO_0021640"], "name": "anaplastic ependymoma"} -{"id": "MONDO_0016701", "parentIds": ["MONDO_0100342", "MONDO_0003268", "EFO_1000356"], "name": "oligoastrocytic tumor"} {"id": "MONDO_0016707", "parentIds": ["EFO_0005543"], "name": "astroblastoma"} -{"id": "MONDO_0016708", "parentIds": ["EFO_0005784", "MONDO_0021193"], "name": "embryonal tumor of neuroepithelial tissue"} {"id": "MONDO_0016710", "parentIds": ["EFO_0002939"], "name": "medulloblastoma with extensive nodularity"} +{"id": "MONDO_0016711", "parentIds": ["EFO_0002939"], "name": "desmoplastic/nodular medulloblastoma"} {"id": "MONDO_0016712", "parentIds": ["EFO_0002939"], "name": "classic medulloblastoma"} -{"id": "MONDO_0016713", "parentIds": ["MONDO_0021038", "MONDO_0016708", "EFO_0000326"], "name": "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor"} +{"id": "MONDO_0016713", "parentIds": ["MONDO_0021038", "EFO_0000326"], "name": "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor"} {"id": "MONDO_0016715", "parentIds": ["MONDO_0016713", "MONDO_0000640"], "name": "ependymoblastoma"} {"id": "MONDO_0016717", "parentIds": ["EFO_0003833"], "name": "choroid plexus neoplasm"} {"id": "MONDO_0016718", "parentIds": ["EFO_0000313", "EFO_0007206"], "name": "choroid plexus carcinoma"} {"id": "MONDO_0016719", "parentIds": ["MONDO_0015159"], "name": "microcephaly-seizures-intellectual disability-heart disease syndrome"} -{"id": "MONDO_0016721", "parentIds": ["MONDO_0021193", "MONDO_0021232"], "name": "pineal tumor of neuroepithelial tissue"} -{"id": "MONDO_0016726", "parentIds": ["MONDO_0021193"], "name": "neuronal tumor"} -{"id": "MONDO_0016727", "parentIds": ["MONDO_0016729", "MONDO_0016726"], "name": "extraventricular neurocytoma"} +{"id": "MONDO_0016727", "parentIds": ["MONDO_0016729"], "name": "extraventricular neurocytoma"} {"id": "MONDO_0016729", "parentIds": ["MONDO_0021193"], "name": "mixed neuronal-glial tumor"} {"id": "MONDO_0016730", "parentIds": ["MONDO_0016729"], "name": "gangliocytoma"} +{"id": "MONDO_0016734", "parentIds": ["EFO_0003094"], "name": "anaplastic ganglioglioma"} {"id": "MONDO_0016735", "parentIds": ["MONDO_0016729"], "name": "papillary glioneuronal tumor"} {"id": "MONDO_0016736", "parentIds": ["MONDO_0016729"], "name": "rosette-forming glioneuronal tumor of fourth ventricule"} -{"id": "MONDO_0016738", "parentIds": ["MONDO_0018201", "MONDO_0021248"], "name": "primary germ cell tumor of central nervous system"} -{"id": "MONDO_0016742", "parentIds": ["MONDO_0016738", "MONDO_0000524", "MONDO_0003000", "EFO_0000326"], "name": "mixed germ cell tumor of central nervous system"} -{"id": "MONDO_0016744", "parentIds": ["EFO_0003851"], "name": "primary melanocytic tumor of central nervous system"} -{"id": "MONDO_0016747", "parentIds": ["MONDO_0003222", "EFO_1000397", "MONDO_0016744", "MONDO_0021322"], "name": "primary melanoma of the central nervous system"} +{"id": "MONDO_0016739", "parentIds": ["EFO_0007252"], "name": "yolk sac tumor of central nervous system"} +{"id": "MONDO_0016740", "parentIds": ["MONDO_0003578", "MONDO_0002149", "MONDO_0020574", "EFO_0000326", "EFO_0002893"], "name": "choriocarcinoma of the central nervous system"} +{"id": "MONDO_0016742", "parentIds": ["MONDO_0000524", "MONDO_0003000", "EFO_0000326"], "name": "mixed germ cell tumor of central nervous system"} +{"id": "MONDO_0016747", "parentIds": ["MONDO_0003222", "EFO_1000397"], "name": "primary melanoma of the central nervous system"} {"id": "MONDO_0016748", "parentIds": ["MONDO_0043218", "MONDO_0000648", "MONDO_0002407"], "name": "hemangioblastoma"} {"id": "MONDO_0016749", "parentIds": ["MONDO_0021248"], "name": "tumor of cranial and spinal nerves"} {"id": "MONDO_0016750", "parentIds": ["MONDO_0015159"], "name": "microcephaly-cleft palate syndrome"} +{"id": "MONDO_0016751", "parentIds": ["MONDO_0019404", "MONDO_0021089", "MONDO_0100342"], "name": "malignant perineurioma"} {"id": "MONDO_0016752", "parentIds": ["MONDO_0016749"], "name": "benign peripheral nerve sheath tumor"} -{"id": "MONDO_0016756", "parentIds": ["EFO_0000618"], "name": "inherited nervous system cancer-predisposing syndrome"} {"id": "MONDO_0016757", "parentIds": ["EFO_0000760"], "name": "malignant triton tumor"} {"id": "MONDO_0016758", "parentIds": ["OTAR_0000018"], "name": "microcephaly-brain defect-spasticity-hypernatremia syndrome"} {"id": "MONDO_0016759", "parentIds": ["MONDO_0016113", "MONDO_0024257", "MONDO_0020135"], "name": "pontocerebellar hypoplasia type 2"} -{"id": "MONDO_0016760", "parentIds": ["MONDO_0020145", "MONDO_0015159"], "name": "microcephaly-microcornea syndrome, Seemanova type"} +{"id": "MONDO_0016760", "parentIds": ["MONDO_0015159", "MONDO_0024458"], "name": "microcephaly-microcornea syndrome, Seemanova type"} {"id": "MONDO_0016761", "parentIds": ["MONDO_0018230", "EFO_0005571"], "name": "spondyloepiphyseal dysplasia"} {"id": "MONDO_0016762", "parentIds": ["EFO_0003966"], "name": "microcornea-corectopia-macular hypoplasia syndrome"} {"id": "MONDO_0016763", "parentIds": ["MONDO_0018230"], "name": "spondylometaphyseal dysplasia"} -{"id": "MONDO_0016764", "parentIds": ["MONDO_0015217", "MONDO_0020147"], "name": "isolated anophthalmia-microphthalmia syndrome"} +{"id": "MONDO_0016764", "parentIds": ["EFO_0003966"], "name": "isolated anophthalmia-microphthalmia syndrome"} {"id": "MONDO_0016765", "parentIds": ["MONDO_0016897"], "name": "19p13.12 microdeletion syndrome"} {"id": "MONDO_0016778", "parentIds": ["EFO_0005542", "MONDO_0043544"], "name": "iatrogenic botulism"} {"id": "MONDO_0016779", "parentIds": ["MONDO_0100499", "MONDO_0015159"], "name": "multiple congenital anomalies due to 14q32.2 maternally expressed gene defect"} @@ -7287,33 +9260,27 @@ {"id": "MONDO_0016785", "parentIds": ["EFO_1000298"], "name": "complete hydatidiform mole"} {"id": "MONDO_0016789", "parentIds": ["MONDO_0045022", "MONDO_0019189", "MONDO_0019243"], "name": "pyruvate metabolism disorder"} {"id": "MONDO_0016790", "parentIds": ["MONDO_0019243"], "name": "tricarboxylic acid cycle disorder"} -{"id": "MONDO_0016794", "parentIds": ["MONDO_0016387"], "name": "maternally-inherited mitochondrial myopathy"} {"id": "MONDO_0016796", "parentIds": ["MONDO_0018158"], "name": "mitochondrial DNA depletion syndrome, encephalomyopathic form"} -{"id": "MONDO_0016797", "parentIds": ["MONDO_0016387"], "name": "multiple mitochondrial DNA deletion syndrome"} -{"id": "MONDO_0016798", "parentIds": ["MONDO_0016797"], "name": "ataxia neuropathy spectrum"} +{"id": "MONDO_0016798", "parentIds": ["MONDO_0016387"], "name": "ataxia neuropathy spectrum"} {"id": "MONDO_0016800", "parentIds": ["MONDO_0004069"], "name": "mitochondrial membrane transport disorder"} {"id": "MONDO_0016801", "parentIds": ["MONDO_0016800"], "name": "mitochondrial substrate carrier disorder"} {"id": "MONDO_0016802", "parentIds": ["MONDO_0016800"], "name": "mitochondrial protein import disorder"} -{"id": "MONDO_0016803", "parentIds": ["MONDO_0004069"], "name": "unspecified inborn mitochondrial disorder"} -{"id": "MONDO_0016805", "parentIds": ["MONDO_0016387"], "name": "isolated oxidative phosphorylation complex disorder"} {"id": "MONDO_0016806", "parentIds": ["MONDO_0016387"], "name": "maternally-inherited mitochondrial dystonia"} -{"id": "MONDO_0016807", "parentIds": ["MONDO_0016794"], "name": "pure mitochondrial myopathy"} +{"id": "MONDO_0016807", "parentIds": ["MONDO_0044970"], "name": "pure mitochondrial myopathy"} {"id": "MONDO_0016809", "parentIds": ["MONDO_0011835"], "name": "spinocerebellar ataxia with epilepsy"} -{"id": "MONDO_0016810", "parentIds": ["EFO_1000017", "MONDO_0016797", "EFO_0002509"], "name": "autosomal recessive progressive external ophthalmoplegia"} +{"id": "MONDO_0016810", "parentIds": ["EFO_1000017", "EFO_0002509"], "name": "autosomal recessive progressive external ophthalmoplegia"} {"id": "MONDO_0016811", "parentIds": ["MONDO_0007415"], "name": "renal tubulopathy-encephalopathy-liver failure syndrome"} -{"id": "MONDO_0016812", "parentIds": ["MONDO_0018329"], "name": "dopa-responsive dystonia"} +{"id": "MONDO_0016812", "parentIds": ["EFO_0000589", "EFO_0000618"], "name": "dopa-responsive dystonia"} {"id": "MONDO_0016814", "parentIds": ["MONDO_0009723"], "name": "maternally-inherited Leigh syndrome"} -{"id": "MONDO_0016815", "parentIds": ["MONDO_0009723", "MONDO_0000688"], "name": "Leigh syndrome with leukodystrophy"} -{"id": "MONDO_0016816", "parentIds": ["MONDO_0018151", "MONDO_0009723"], "name": "Leigh syndrome with nephrotic syndrome"} -{"id": "MONDO_0016817", "parentIds": ["EFO_1000017", "MONDO_0015160", "MONDO_0017950", "MONDO_0015334", "MONDO_0019712"], "name": "Meier-Gorlin syndrome"} +{"id": "MONDO_0016817", "parentIds": ["EFO_1000017", "MONDO_0015160"], "name": "Meier-Gorlin syndrome"} {"id": "MONDO_0016818", "parentIds": ["OTAR_0000018"], "name": "Mikati-Najjar-Sahli syndrome"} -{"id": "MONDO_0016819", "parentIds": ["MONDO_0015770"], "name": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"} -{"id": "MONDO_0016820", "parentIds": ["MONDO_0018791", "EFO_0000508", "EFO_1000859"], "name": "Moyamoya disease"} +{"id": "MONDO_0016819", "parentIds": ["MONDO_0008006", "MONDO_0015770", "MONDO_0100545"], "name": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"} +{"id": "MONDO_0016820", "parentIds": ["EFO_1000859", "MONDO_0100545"], "name": "Moyamoya disease"} {"id": "MONDO_0016821", "parentIds": ["OTAR_0000018"], "name": "shoulder and girdle defects-familial intellectual disability syndrome"} -{"id": "MONDO_0016824", "parentIds": ["MONDO_0003342", "MONDO_0021440", "MONDO_0017127", "MONDO_0023603", "MONDO_0044335", "MONDO_0015950"], "name": "infantile myofibromatosis"} +{"id": "MONDO_0016824", "parentIds": ["MONDO_0003342", "MONDO_0023603", "MONDO_0044335"], "name": "infantile myofibromatosis"} {"id": "MONDO_0016825", "parentIds": ["MONDO_0009637"], "name": "mitochondrial myopathy-lactic acidosis-deafness syndrome"} {"id": "MONDO_0016826", "parentIds": ["MONDO_0004737", "MONDO_0002012", "MONDO_0016624", "MONDO_0019215", "MONDO_0019220"], "name": "methylmalonic aciduria and homocystinuria"} -{"id": "MONDO_0016827", "parentIds": ["MONDO_0015620"], "name": "myopathy-growth delay-intellectual disability-hypospadias syndrome"} +{"id": "MONDO_0016827", "parentIds": ["OTAR_0000018"], "name": "myopathy-growth delay-intellectual disability-hypospadias syndrome"} {"id": "MONDO_0016828", "parentIds": ["EFO_1000017", "MONDO_0020099"], "name": "autosomal recessive sideroblastic anemia"} {"id": "MONDO_0016829", "parentIds": ["MONDO_0020754", "MONDO_0021189"], "name": "familial visceral myopathy"} {"id": "MONDO_0016830", "parentIds": ["MONDO_0016333", "MONDO_0016106"], "name": "Emery-Dreifuss muscular dystrophy"} @@ -7378,7 +9345,6 @@ {"id": "MONDO_0016894", "parentIds": ["MONDO_0016878"], "name": "partial deletion of the short arm of chromosome 16"} {"id": "MONDO_0016897", "parentIds": ["MONDO_0016881"], "name": "partial deletion of the short arm of chromosome 19"} {"id": "MONDO_0016898", "parentIds": ["MONDO_0016882"], "name": "partial monosomy of the short arm of chromosome 20"} -{"id": "MONDO_0016899", "parentIds": ["MONDO_0016106", "MONDO_0016333"], "name": "Duchenne and Becker muscular dystrophy"} {"id": "MONDO_0016901", "parentIds": ["MONDO_0016867"], "name": "partial deletion of the long arm of chromosome 2"} {"id": "MONDO_0016902", "parentIds": ["MONDO_0016868"], "name": "partial deletion of the long arm of chromosome 3"} {"id": "MONDO_0016903", "parentIds": ["MONDO_0016869"], "name": "partial deletion of the long arm of chromosome 4"} @@ -7450,11 +9416,12 @@ {"id": "MONDO_0016980", "parentIds": ["MONDO_0020119"], "name": "ATR-X-related syndrome"} {"id": "MONDO_0016981", "parentIds": ["MONDO_0017578"], "name": "infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"} {"id": "MONDO_0016983", "parentIds": ["MONDO_0015231"], "name": "Bartter syndrome with hypocalcemia"} +{"id": "MONDO_0016986", "parentIds": ["EFO_1000634"], "name": "congenital smooth muscle hamartoma"} {"id": "MONDO_0016987", "parentIds": ["MONDO_0015548", "EFO_0004280"], "name": "neuroacanthocytosis"} {"id": "MONDO_0016988", "parentIds": ["MONDO_0015624"], "name": "hyperinsulinism due to HNF4A deficiency"} {"id": "MONDO_0016990", "parentIds": ["MONDO_0024307"], "name": "acquired prothrombin deficiency"} {"id": "MONDO_0016993", "parentIds": ["MONDO_0010033"], "name": "generalized peeling skin syndrome type C"} -{"id": "MONDO_0016994", "parentIds": ["MONDO_0017950"], "name": "microcephalic osteodysplastic primordial dwarfism types I and III"} +{"id": "MONDO_0016994", "parentIds": ["MONDO_0800063"], "name": "microcephalic osteodysplastic primordial dwarfism types I and III"} {"id": "MONDO_0016996", "parentIds": ["EFO_0009431"], "name": "NK-cell enteropathy"} {"id": "MONDO_0017003", "parentIds": ["MONDO_0000761", "MONDO_0700027"], "name": "partial deletion of chromosome X"} {"id": "MONDO_0017004", "parentIds": ["MONDO_0017003"], "name": "partial monosomy of the short arm of chromosome X"} @@ -7468,27 +9435,19 @@ {"id": "MONDO_0017015", "parentIds": ["MONDO_0017014"], "name": "primary interstitial lung disease specific to childhood"} {"id": "MONDO_0017019", "parentIds": ["MONDO_0017015"], "name": "interstitial lung disease specific to infancy"} {"id": "MONDO_0017026", "parentIds": ["EFO_0004244"], "name": "interstitial lung disease specific to adulthood"} -{"id": "MONDO_0017027", "parentIds": ["MONDO_0017026"], "name": "primary interstitial lung disease specific to adulthood"} -{"id": "MONDO_0017030", "parentIds": ["EFO_0004244"], "name": "interstitial lung disease in childhood and adulthood"} -{"id": "MONDO_0017031", "parentIds": ["MONDO_0017030"], "name": "primary interstitial lung disease in childhood and adulthood"} -{"id": "MONDO_0017034", "parentIds": ["MONDO_0017030"], "name": "secondary interstitial lung disease in childhood and adulthood"} -{"id": "MONDO_0017040", "parentIds": ["MONDO_0017034"], "name": "exposure-related interstitial lung disease"} -{"id": "MONDO_0017041", "parentIds": ["MONDO_0020240"], "name": "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome"} +{"id": "MONDO_0017041", "parentIds": ["EFO_0000508", "MONDO_0024458"], "name": "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome"} {"id": "MONDO_0017042", "parentIds": ["EFO_0005571", "MONDO_0019685"], "name": "thanatophoric dysplasia"} {"id": "MONDO_0017043", "parentIds": ["MONDO_0036511", "EFO_0005784", "EFO_0007365"], "name": "congenital mesoblastic nephroma"} {"id": "MONDO_0017044", "parentIds": ["MONDO_0019741"], "name": "adult familial nephronophthisis-spastic quadriparesia syndrome"} {"id": "MONDO_0017045", "parentIds": ["MONDO_0015159", "MONDO_0015126"], "name": "neuroectodermal-endocrine syndrome"} {"id": "MONDO_0017047", "parentIds": ["MONDO_0020127", "MONDO_0004183"], "name": "infantile axonal neuropathy"} -{"id": "MONDO_0017049", "parentIds": ["MONDO_0015168"], "name": "hypomyelination neuropathy-arthrogryposis syndrome"} {"id": "MONDO_0017050", "parentIds": ["EFO_0003824", "EFO_0005784"], "name": "intraocular medulloepithelioma"} {"id": "MONDO_0017051", "parentIds": ["MONDO_0009563"], "name": "classic maple syrup urine disease"} {"id": "MONDO_0017052", "parentIds": ["MONDO_0009563"], "name": "intermediate maple syrup urine disease"} {"id": "MONDO_0017053", "parentIds": ["MONDO_0009563"], "name": "intermittent maple syrup urine disease"} {"id": "MONDO_0017054", "parentIds": ["MONDO_0009563"], "name": "thiamine-responsive maple syrup urine disease"} {"id": "MONDO_0017056", "parentIds": ["MONDO_0013578", "MONDO_0016919"], "name": "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion"} -{"id": "MONDO_0017057", "parentIds": ["MONDO_0018796"], "name": "hereditary thrombocytopenia with normal platelets"} {"id": "MONDO_0017058", "parentIds": ["MONDO_0018778", "EFO_1000017"], "name": "autosomal recessive intermediate Charcot-Marie-Tooth disease"} -{"id": "MONDO_0017059", "parentIds": ["MONDO_0018075"], "name": "neural tube closure defect"} {"id": "MONDO_0017060", "parentIds": ["MONDO_0018968"], "name": "open iniencephaly"} {"id": "MONDO_0017061", "parentIds": ["MONDO_0018968"], "name": "closed iniencephaly"} {"id": "MONDO_0017062", "parentIds": ["MONDO_0019351"], "name": "spina bifida aperta"} @@ -7507,21 +9466,20 @@ {"id": "MONDO_0017075", "parentIds": ["MONDO_0019773"], "name": "upper thoracic spina bifida cystica"} {"id": "MONDO_0017076", "parentIds": ["MONDO_0017069"], "name": "posterior meningocele"} {"id": "MONDO_0017077", "parentIds": ["MONDO_0017069"], "name": "myelocystocele"} -{"id": "MONDO_0017078", "parentIds": ["MONDO_0002320", "MONDO_0017059"], "name": "cephalocele"} +{"id": "MONDO_0017078", "parentIds": ["MONDO_0002320"], "name": "cephalocele"} {"id": "MONDO_0017079", "parentIds": ["MONDO_0001147", "EFO_0005774", "MONDO_0017078"], "name": "meningoencephalocele"} {"id": "MONDO_0017080", "parentIds": ["MONDO_0016057"], "name": "occipital encephalocele"} {"id": "MONDO_0017081", "parentIds": ["MONDO_0016057"], "name": "parietal encephalocele"} {"id": "MONDO_0017082", "parentIds": ["MONDO_0016057"], "name": "basal encephalocele"} -{"id": "MONDO_0017084", "parentIds": ["MONDO_0017059"], "name": "leptomyelolipoma"} +{"id": "MONDO_0017084", "parentIds": ["MONDO_0018075"], "name": "leptomyelolipoma"} {"id": "MONDO_0017086", "parentIds": ["MONDO_0018075"], "name": "primary tethered cord syndrome"} {"id": "MONDO_0017087", "parentIds": ["MONDO_0018075"], "name": "neurenteric cyst"} {"id": "MONDO_0017088", "parentIds": ["MONDO_0018075"], "name": "isolated amyelia"} -{"id": "MONDO_0017089", "parentIds": ["MONDO_0016608", "MONDO_0015219"], "name": "isolated megalencephaly"} -{"id": "MONDO_0017090", "parentIds": ["MONDO_0016054"], "name": "midline cerebral malformation"} +{"id": "MONDO_0017089", "parentIds": ["MONDO_0016608"], "name": "isolated megalencephaly"} {"id": "MONDO_0017091", "parentIds": ["MONDO_0000087"], "name": "bilateral polymicrogyria"} {"id": "MONDO_0017092", "parentIds": ["MONDO_0000087"], "name": "unilateral polymicrogyria"} {"id": "MONDO_0017093", "parentIds": ["MONDO_0017092"], "name": "unilateral focal polymicrogyria"} -{"id": "MONDO_0017094", "parentIds": ["MONDO_0016054"], "name": "cerebral cortical dysplasia"} +{"id": "MONDO_0017094", "parentIds": ["EFO_0005774"], "name": "cerebral cortical dysplasia"} {"id": "MONDO_0017095", "parentIds": ["MONDO_0019009"], "name": "isolated focal cortical dysplasia type I"} {"id": "MONDO_0017096", "parentIds": ["MONDO_0017095"], "name": "isolated focal cortical dysplasia type Ia"} {"id": "MONDO_0017097", "parentIds": ["MONDO_0017095"], "name": "isolated focal cortical dysplasia type Ib"} @@ -7529,45 +9487,36 @@ {"id": "MONDO_0017100", "parentIds": ["MONDO_0015134"], "name": "neutropenia-monocytopenia-deafness syndrome"} {"id": "MONDO_0017101", "parentIds": ["MONDO_0011818"], "name": "isolated focal cortical dysplasia type IIa"} {"id": "MONDO_0017102", "parentIds": ["MONDO_0011818"], "name": "isolated focal cortical dysplasia type IIb"} -{"id": "MONDO_0017103", "parentIds": ["MONDO_0016054"], "name": "encephaloclastic disorder"} -{"id": "MONDO_0017104", "parentIds": ["MONDO_0015219"], "name": "central nervous system cystic malformation"} +{"id": "MONDO_0017103", "parentIds": ["EFO_0005774"], "name": "encephaloclastic disorder"} {"id": "MONDO_0017110", "parentIds": ["EFO_1000890"], "name": "isolated Dandy-Walker malformation with hydrocephalus"} {"id": "MONDO_0017111", "parentIds": ["EFO_1000890"], "name": "isolated Dandy-Walker malformation without hydrocephalus"} -{"id": "MONDO_0017114", "parentIds": ["MONDO_0015915"], "name": "global cerebellar malformation"} +{"id": "MONDO_0017112", "parentIds": ["MONDO_0020022"], "name": "isolated unilateral hemispheric cerebellar hypoplasia"} {"id": "MONDO_0017116", "parentIds": ["MONDO_0016349"], "name": "congenital communicating hydrocephalus"} {"id": "MONDO_0017117", "parentIds": ["MONDO_0016349"], "name": "congenital non-communicating hydrocephalus"} -{"id": "MONDO_0017123", "parentIds": ["MONDO_0017270", "MONDO_0008823", "MONDO_0015327", "MONDO_0017755"], "name": "arthrogryposis-renal dysfunction-cholestasis syndrome"} +{"id": "MONDO_0017123", "parentIds": ["MONDO_0008823", "MONDO_0015327", "MONDO_0017755"], "name": "arthrogryposis-renal dysfunction-cholestasis syndrome"} {"id": "MONDO_0017126", "parentIds": ["OTAR_0000018"], "name": "oculo-skeletal-renal syndrome"} -{"id": "MONDO_0017127", "parentIds": ["EFO_0000508", "MONDO_0002616"], "name": "inherited soft tissue tumor"} -{"id": "MONDO_0017128", "parentIds": ["EFO_0000508", "EFO_0008549"], "name": "inherited digestive tract tumor"} -{"id": "MONDO_0017129", "parentIds": ["EFO_1001339", "EFO_0000508"], "name": "inherited cardiac tumor"} -{"id": "MONDO_0017131", "parentIds": ["OTAR_0000018"], "name": "hereditary cardiac anomaly"} -{"id": "MONDO_0017132", "parentIds": ["MONDO_0018634"], "name": "hereditary ATTR amyloidosis"} {"id": "MONDO_0017134", "parentIds": ["MONDO_0019287"], "name": "odonto-onycho dysplasia-alopecia syndrome"} {"id": "MONDO_0017135", "parentIds": ["OTAR_0000018"], "name": "olivopontocerebellar atrophy-deafness syndrome"} -{"id": "MONDO_0017136", "parentIds": ["MONDO_0019697"], "name": "omodysplasia"} -{"id": "MONDO_0017138", "parentIds": ["EFO_0000508", "MONDO_0015159", "MONDO_0015620", "MONDO_0015222", "MONDO_0008537", "MONDO_0015246"], "name": "Opitz G/BBB syndrome"} -{"id": "MONDO_0017139", "parentIds": ["MONDO_0015498", "MONDO_0018454"], "name": "oromandibular-limb hypogenesis syndrome"} +{"id": "MONDO_0017136", "parentIds": ["MONDO_0018230"], "name": "omodysplasia"} +{"id": "MONDO_0017138", "parentIds": ["EFO_0000508", "MONDO_0015159", "MONDO_0008537"], "name": "Opitz G/BBB syndrome"} +{"id": "MONDO_0017139", "parentIds": ["EFO_0000508", "MONDO_0015498"], "name": "oromandibular-limb hypogenesis syndrome"} {"id": "MONDO_0017140", "parentIds": ["OTAR_0000018"], "name": "L1 syndrome"} -{"id": "MONDO_0017144", "parentIds": ["MONDO_0044348", "MONDO_0002280"], "name": "alpha-thalassemia and related diseases"} {"id": "MONDO_0017145", "parentIds": ["MONDO_0002280", "MONDO_0019050"], "name": "beta-thalassemia and related diseases"} -{"id": "MONDO_0017146", "parentIds": ["MONDO_0019050", "MONDO_0002280"], "name": "sickle cell disease and related diseases"} -{"id": "MONDO_0017147", "parentIds": ["MONDO_0008347"], "name": "idiopathic pulmonary arterial hypertension"} -{"id": "MONDO_0017148", "parentIds": ["EFO_0000508", "MONDO_0008347"], "name": "heritable pulmonary arterial hypertension"} +{"id": "MONDO_0017147", "parentIds": ["EFO_0001361"], "name": "idiopathic pulmonary arterial hypertension"} +{"id": "MONDO_0017148", "parentIds": ["EFO_0001361", "EFO_0000508"], "name": "heritable pulmonary arterial hypertension"} {"id": "MONDO_0017160", "parentIds": ["EFO_0004280", "MONDO_0017276"], "name": "behavioral variant of frontotemporal dementia"} {"id": "MONDO_0017161", "parentIds": ["MONDO_0024237", "MONDO_0015547", "EFO_0004280"], "name": "frontotemporal dementia with motor neuron disease"} -{"id": "MONDO_0017162", "parentIds": ["MONDO_0018454"], "name": "imperforate oropharynx-costo vetebral anomalies syndrome"} +{"id": "MONDO_0017162", "parentIds": ["EFO_0000508", "MONDO_0018234"], "name": "imperforate oropharynx-costo vetebral anomalies syndrome"} {"id": "MONDO_0017165", "parentIds": ["MONDO_0019218"], "name": "bile acid CoA ligase deficiency and defective amidation"} {"id": "MONDO_0017167", "parentIds": ["EFO_0008549", "EFO_0005950"], "name": "malignant epithelial tumor of salivary glands"} -{"id": "MONDO_0017169", "parentIds": ["MONDO_0015356", "MONDO_0015079"], "name": "multiple endocrine neoplasia"} +{"id": "MONDO_0017169", "parentIds": ["MONDO_0015079", "MONDO_0015356"], "name": "multiple endocrine neoplasia"} {"id": "MONDO_0017171", "parentIds": ["MONDO_0009661"], "name": "mucopolysaccharidosis type 6, rapidly progressing"} {"id": "MONDO_0017172", "parentIds": ["MONDO_0009661"], "name": "mucopolysaccharidosis type 6, slowly progressing"} -{"id": "MONDO_0017173", "parentIds": ["EFO_0004248"], "name": "non-syndromic male infertility due to sperm motility disorder"} {"id": "MONDO_0017174", "parentIds": ["MONDO_0007182"], "name": "Machado-Joseph disease type 1"} {"id": "MONDO_0017175", "parentIds": ["MONDO_0007182"], "name": "Machado-Joseph disease type 2"} {"id": "MONDO_0017176", "parentIds": ["MONDO_0007182"], "name": "Machado-Joseph disease type 3"} -{"id": "MONDO_0017177", "parentIds": ["MONDO_0035162"], "name": "hemihyperplasia-multiple lipomatosis syndrome"} -{"id": "MONDO_0017178", "parentIds": ["MONDO_0018239", "MONDO_0018383"], "name": "osteochondritis dissecans"} +{"id": "MONDO_0017177", "parentIds": ["MONDO_0019716", "MONDO_0019755"], "name": "hemihyperplasia-multiple lipomatosis syndrome"} +{"id": "MONDO_0017178", "parentIds": ["MONDO_0018383"], "name": "osteochondritis dissecans"} {"id": "MONDO_0017180", "parentIds": ["MONDO_0016961"], "name": "10q22.3q23.3 microduplication syndrome"} {"id": "MONDO_0017181", "parentIds": ["EFO_0009550"], "name": "hypnic headache"} {"id": "MONDO_0017182", "parentIds": ["EFO_0007318", "MONDO_0002177"], "name": "familial hyperinsulinism"} @@ -7583,13 +9532,15 @@ {"id": "MONDO_0017195", "parentIds": ["MONDO_0018230"], "name": "Bruck syndrome"} {"id": "MONDO_0017196", "parentIds": ["EFO_0003839", "EFO_0003852", "MONDO_0019019", "MONDO_0004884", "MONDO_0043878"], "name": "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome"} {"id": "MONDO_0017197", "parentIds": ["MONDO_0100118", "MONDO_0019289"], "name": "osteopathia striata-pigmentary dermopathy-white forelock syndrome"} -{"id": "MONDO_0017198", "parentIds": ["MONDO_0018230", "MONDO_0042973"], "name": "osteopetrosis"} +{"id": "MONDO_0017198", "parentIds": ["MONDO_0042973", "MONDO_0018230"], "name": "osteopetrosis"} {"id": "MONDO_0017199", "parentIds": ["OTAR_0000018"], "name": "osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome"} +{"id": "MONDO_0017202", "parentIds": ["MONDO_0004863"], "name": "acute endophthalmitis"} +{"id": "MONDO_0017203", "parentIds": ["MONDO_0004863"], "name": "chronic endophthalmitis"} {"id": "MONDO_0017207", "parentIds": ["EFO_0000574"], "name": "primary organ-specific lymphoma"} -{"id": "MONDO_0017212", "parentIds": ["MONDO_0019541"], "name": "paraneoplastic uveitis"} +{"id": "MONDO_0017209", "parentIds": ["MONDO_0001280", "MONDO_0016047"], "name": "infectious posterior uveitis"} +{"id": "MONDO_0017210", "parentIds": ["MONDO_0016047", "MONDO_0004773"], "name": "infectious anterior uveitis"} {"id": "MONDO_0017214", "parentIds": ["MONDO_0002012", "MONDO_0019215", "MONDO_0019220"], "name": "vitamin B12-responsive methylmalonic acidemia"} -{"id": "MONDO_0017218", "parentIds": ["MONDO_0016296"], "name": "septopreoptic holoprosencephaly"} -{"id": "MONDO_0017219", "parentIds": ["MONDO_0017090"], "name": "microform holoprosencephaly"} +{"id": "MONDO_0017219", "parentIds": ["MONDO_0016296"], "name": "microform holoprosencephaly"} {"id": "MONDO_0017221", "parentIds": ["MONDO_0010714"], "name": "Pelizaeus-Merzbacher disease, connatal form"} {"id": "MONDO_0017222", "parentIds": ["MONDO_0010714"], "name": "Pelizaeus-Merzbacher disease, classic form"} {"id": "MONDO_0017223", "parentIds": ["MONDO_0010714"], "name": "Pelizaeus-Merzbacher disease, transitional form"} @@ -7600,25 +9551,19 @@ {"id": "MONDO_0017230", "parentIds": ["MONDO_0020088"], "name": "autosomal semi-dominant severe lipodystrophic laminopathy"} {"id": "MONDO_0017231", "parentIds": ["MONDO_0019142"], "name": "erythropoietic uroporphyria associated with myeloid malignancy"} {"id": "MONDO_0017232", "parentIds": ["OTAR_0000018"], "name": "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"} -{"id": "MONDO_0017234", "parentIds": ["MONDO_0018926", "MONDO_0024237", "EFO_0004720"], "name": "inherited prion disease"} {"id": "MONDO_0017235", "parentIds": ["OTAR_0000018"], "name": "familial omphalocele syndrome with facial dysmorphism"} {"id": "MONDO_0017236", "parentIds": ["MONDO_0002462"], "name": "rapidly progressive glomerulonephritis"} -{"id": "MONDO_0017237", "parentIds": ["MONDO_0015359"], "name": "hereditary sensorimotor neuropathy with hyperelastic skin"} +{"id": "MONDO_0017237", "parentIds": ["MONDO_0015358"], "name": "hereditary sensorimotor neuropathy with hyperelastic skin"} {"id": "MONDO_0017238", "parentIds": ["MONDO_0019050", "MONDO_0002280", "MONDO_0013511"], "name": "hemoglobinopathy Toms River"} {"id": "MONDO_0017239", "parentIds": ["MONDO_0007771"], "name": "familial progressive hyper- and hypopigmentation"} -{"id": "MONDO_0017240", "parentIds": ["MONDO_0015483", "MONDO_0018751", "MONDO_0015126", "MONDO_0018237"], "name": "acrodysostosis with multiple hormone resistance"} -{"id": "MONDO_0017241", "parentIds": ["MONDO_0000508", "MONDO_0015089"], "name": "AP4-related intellectual disability and spastic paraplegia"} {"id": "MONDO_0017256", "parentIds": ["EFO_1000811"], "name": "idiopathic anterior uveitis"} {"id": "MONDO_0017258", "parentIds": ["EFO_1001082"], "name": "idiopathic panuveitis"} -{"id": "MONDO_0017262", "parentIds": ["MONDO_0015947"], "name": "inherited non-syndromic ichthyosis"} -{"id": "MONDO_0017263", "parentIds": ["MONDO_0015947"], "name": "inherited ichthyosis syndromic form"} -{"id": "MONDO_0017264", "parentIds": ["MONDO_0017269", "MONDO_0020215"], "name": "syndromic recessive X-linked ichthyosis"} -{"id": "MONDO_0017265", "parentIds": ["MONDO_0017262", "EFO_1000017"], "name": "autosomal recessive congenital ichthyosis"} -{"id": "MONDO_0017266", "parentIds": ["MONDO_0017262"], "name": "keratinopathic ichthyosis"} +{"id": "MONDO_0017264", "parentIds": ["EFO_0003966", "MONDO_0017269"], "name": "syndromic recessive X-linked ichthyosis"} +{"id": "MONDO_0017265", "parentIds": ["MONDO_0015947"], "name": "autosomal recessive congenital ichthyosis"} +{"id": "MONDO_0017266", "parentIds": ["MONDO_0015947"], "name": "keratinopathic ichthyosis"} {"id": "MONDO_0017267", "parentIds": ["MONDO_0017265"], "name": "self-healing collodion baby"} {"id": "MONDO_0017268", "parentIds": ["MONDO_0017265"], "name": "acral self-healing collodion baby"} -{"id": "MONDO_0017269", "parentIds": ["MONDO_0000425", "MONDO_0017263"], "name": "X-linked ichthyosis syndrome"} -{"id": "MONDO_0017270", "parentIds": ["MONDO_0017263"], "name": "autosomal ichthyosis syndrome"} +{"id": "MONDO_0017269", "parentIds": ["EFO_0010285"], "name": "X-linked ichthyosis syndrome"} {"id": "MONDO_0017275", "parentIds": ["MONDO_0015087"], "name": "spastic paraplegia-facial-cutaneous lesions syndrome"} {"id": "MONDO_0017276", "parentIds": ["MONDO_0024237", "MONDO_0015547"], "name": "frontotemporal dementia"} {"id": "MONDO_0017277", "parentIds": ["MONDO_0000761", "MONDO_0700019"], "name": "partial deletion of chromosome 12"} @@ -7626,19 +9571,19 @@ {"id": "MONDO_0017279", "parentIds": ["MONDO_0005180"], "name": "young-onset Parkinson disease"} {"id": "MONDO_0017283", "parentIds": ["MONDO_0016892", "MONDO_0018760"], "name": "DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion"} {"id": "MONDO_0017284", "parentIds": ["MONDO_0017009", "MONDO_0015159"], "name": "Xp22.13p22.2 duplication syndrome"} +{"id": "MONDO_0017285", "parentIds": ["EFO_0009555"], "name": "penoscrotal transposition"} {"id": "MONDO_0017287", "parentIds": ["EFO_0005809"], "name": "IgG4-related disease"} -{"id": "MONDO_0017290", "parentIds": ["MONDO_0019072", "MONDO_0019052", "MONDO_0015509"], "name": "familial intrahepatic cholestasis"} +{"id": "MONDO_0017290", "parentIds": ["MONDO_0019072", "MONDO_0019052", "EFO_0001421"], "name": "familial intrahepatic cholestasis"} {"id": "MONDO_0017292", "parentIds": ["EFO_0006500", "EFO_0000571"], "name": "well-differentiated fetal adenocarcinoma of the lung"} {"id": "MONDO_0017294", "parentIds": ["MONDO_0019225", "MONDO_0010613"], "name": "glycerol kinase deficiency, infantile form"} {"id": "MONDO_0017295", "parentIds": ["MONDO_0018459", "MONDO_0019225"], "name": "glycerol kinase deficiency, juvenile form"} {"id": "MONDO_0017296", "parentIds": ["MONDO_0018459", "MONDO_0019225"], "name": "glycerol kinase deficiency, adult form"} {"id": "MONDO_0017301", "parentIds": ["EFO_0007233", "MONDO_0000474"], "name": "pericardial and diaphragmatic defect"} -{"id": "MONDO_0017302", "parentIds": ["MONDO_0016139"], "name": "qualitative or quantitative defects of troponin"} {"id": "MONDO_0017303", "parentIds": ["MONDO_0016139"], "name": "qualitative or quantitative defects of tropomyosin"} -{"id": "MONDO_0017304", "parentIds": ["MONDO_0018134", "MONDO_0020275"], "name": "ocular albinism"} -{"id": "MONDO_0017305", "parentIds": ["MONDO_0018134", "MONDO_0100118", "MONDO_0019290", "MONDO_0020275"], "name": "syndromic oculocutaneous albinism"} -{"id": "MONDO_0017306", "parentIds": ["MONDO_0019235", "MONDO_0037871", "MONDO_0019189"], "name": "disorder of phenylalanine metabolism"} -{"id": "MONDO_0017307", "parentIds": ["MONDO_0019189", "MONDO_0019235", "MONDO_0037871"], "name": "disorder of tyrosine metabolism"} +{"id": "MONDO_0017304", "parentIds": ["MONDO_0018134", "MONDO_0024458"], "name": "ocular albinism"} +{"id": "MONDO_0017305", "parentIds": ["MONDO_0018134", "MONDO_0100118", "MONDO_0019290"], "name": "syndromic oculocutaneous albinism"} +{"id": "MONDO_0017306", "parentIds": ["MONDO_0019235", "MONDO_0019189", "MONDO_0045022"], "name": "disorder of phenylalanine metabolism"} +{"id": "MONDO_0017307", "parentIds": ["MONDO_0019189", "MONDO_0045022", "MONDO_0019235"], "name": "disorder of tyrosine metabolism"} {"id": "MONDO_0017309", "parentIds": ["EFO_0004264", "MONDO_0007947"], "name": "neonatal Marfan syndrome"} {"id": "MONDO_0017310", "parentIds": ["MONDO_0023603"], "name": "Marfan and Marfan-related disorder"} {"id": "MONDO_0017312", "parentIds": ["EFO_1000017", "MONDO_0019852", "MONDO_0016387"], "name": "Perrault syndrome"} @@ -7646,7 +9591,7 @@ {"id": "MONDO_0017314", "parentIds": ["MONDO_0020066", "EFO_0004264"], "name": "Ehlers-Danlos syndrome, vascular type"} {"id": "MONDO_0017315", "parentIds": ["MONDO_0015159"], "name": "short stature-webbed neck-heart disease syndrome"} {"id": "MONDO_0017316", "parentIds": ["OTAR_0000018"], "name": "short stature-deafness-neutrophil dysfunction-dysmorphism syndrome"} -{"id": "MONDO_0017317", "parentIds": ["MONDO_0042983", "MONDO_0019755", "MONDO_0000648", "EFO_0009675", "MONDO_0015950"], "name": "phakomatosis pigmentokeratotica"} +{"id": "MONDO_0017317", "parentIds": ["MONDO_0100118", "MONDO_0042983", "MONDO_0100545", "MONDO_0019755", "MONDO_0000648", "EFO_0009675"], "name": "phakomatosis pigmentokeratotica"} {"id": "MONDO_0017318", "parentIds": ["EFO_0003966", "MONDO_0019289", "MONDO_0019755", "MONDO_0042983"], "name": "phakomatosis pigmentovascularis"} {"id": "MONDO_0017319", "parentIds": ["MONDO_0004139"], "name": "hereditary elliptocytosis"} {"id": "MONDO_0017320", "parentIds": ["MONDO_0019225"], "name": "phosphoenolpyruvate carboxykinase deficiency"} @@ -7655,27 +9600,28 @@ {"id": "MONDO_0017323", "parentIds": ["EFO_0005583", "MONDO_0017322"], "name": "hypocalcemic rickets"} {"id": "MONDO_0017324", "parentIds": ["MONDO_0000044", "EFO_1000017"], "name": "autosomal recessive hypophosphatemic rickets"} {"id": "MONDO_0017325", "parentIds": ["MONDO_0020072"], "name": "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"} -{"id": "MONDO_0017329", "parentIds": ["MONDO_0100191", "EFO_0007536", "MONDO_0015619"], "name": "familial vesicoureteral reflux"} +{"id": "MONDO_0017329", "parentIds": ["EFO_0007536", "EFO_0000508"], "name": "familial vesicoureteral reflux"} {"id": "MONDO_0017331", "parentIds": ["EFO_0000508"], "name": "Pilotto syndrome"} {"id": "MONDO_0017334", "parentIds": ["MONDO_0016877"], "name": "12q15q21.1 microdeletion syndrome"} {"id": "MONDO_0017335", "parentIds": ["MONDO_0015159", "MONDO_0022173"], "name": "microtriplication 11q24.1"} -{"id": "MONDO_0017336", "parentIds": ["EFO_0000538"], "name": "fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency"} {"id": "MONDO_0017337", "parentIds": ["MONDO_0015129"], "name": "inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"} {"id": "MONDO_0017338", "parentIds": ["MONDO_0018424"], "name": "fatal multiple mitochondrial dysfunctions syndrome"} {"id": "MONDO_0017339", "parentIds": ["MONDO_0017265"], "name": "exfoliative ichthyosis"} +{"id": "MONDO_0017340", "parentIds": ["EFO_0005950"], "name": "juvenile nasopharyngeal angiofibroma"} {"id": "MONDO_0017341", "parentIds": ["EFO_0000616", "MONDO_0021669"], "name": "virus associated tumor"} {"id": "MONDO_0017342", "parentIds": ["MONDO_0017341"], "name": "Epstein-Barr virus-related tumor"} {"id": "MONDO_0017343", "parentIds": ["MONDO_0017342"], "name": "Epstein-Barr virus-associated malignant lymphoproliferative disorder"} +{"id": "MONDO_0017344", "parentIds": ["MONDO_0017342"], "name": "Epstein-Barr virus-associated carcinoma"} {"id": "MONDO_0017345", "parentIds": ["MONDO_0017342"], "name": "Epstein-Barr virus-associated mesenchymal tumor"} {"id": "MONDO_0017346", "parentIds": ["MONDO_0017343", "EFO_0000403"], "name": "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly"} {"id": "MONDO_0017349", "parentIds": ["MONDO_0002604", "MONDO_0017345"], "name": "myopericytoma"} -{"id": "MONDO_0017350", "parentIds": ["MONDO_0037871", "MONDO_0019189"], "name": "inborn disorder of tryptophan metabolism"} +{"id": "MONDO_0017350", "parentIds": ["MONDO_0019189", "MONDO_0004736", "MONDO_0045022"], "name": "inborn disorder of tryptophan metabolism"} {"id": "MONDO_0017351", "parentIds": ["MONDO_0037938"], "name": "inborn disorder of lysine and hydroxylysine metabolism"} {"id": "MONDO_0017352", "parentIds": ["MONDO_0019189"], "name": "disorder of glutamine metabolism"} {"id": "MONDO_0017353", "parentIds": ["MONDO_0011612"], "name": "neonatal glycine encephalopathy"} {"id": "MONDO_0017354", "parentIds": ["MONDO_0011612"], "name": "infantile glycine encephalopathy"} -{"id": "MONDO_0017355", "parentIds": ["MONDO_0037871", "MONDO_0019230"], "name": "inborn disorder of proline metabolism"} -{"id": "MONDO_0017356", "parentIds": ["MONDO_0037871", "MONDO_0019230"], "name": "inborn disorder of ornithine metabolism"} +{"id": "MONDO_0017355", "parentIds": ["MONDO_0045022", "MONDO_0004736", "MONDO_0019230"], "name": "inborn disorder of proline metabolism"} +{"id": "MONDO_0017356", "parentIds": ["MONDO_0045022", "MONDO_0004736", "MONDO_0019230"], "name": "inborn disorder of ornithine metabolism"} {"id": "MONDO_0017359", "parentIds": ["MONDO_0019215"], "name": "3-methylglutaconic aciduria"} {"id": "MONDO_0017360", "parentIds": ["MONDO_0009612"], "name": "vitamin B12-unresponsive methylmalonic acidemia type mut0"} {"id": "MONDO_0017362", "parentIds": ["MONDO_0015923"], "name": "neuralgic amyotrophy"} @@ -7684,9 +9630,10 @@ {"id": "MONDO_0017375", "parentIds": ["EFO_0007255", "MONDO_0016511"], "name": "congenital enterovirus infection"} {"id": "MONDO_0017377", "parentIds": ["MONDO_0015159"], "name": "preaxial polydactyly-colobomata-intellectual disability syndrome"} {"id": "MONDO_0017379", "parentIds": ["OTAR_0000018"], "name": "polyneuropathy-intellectual disability-acromicria-premature menopause syndrome"} -{"id": "MONDO_0017380", "parentIds": ["MONDO_0015185", "MONDO_0018188"], "name": "juvenile polyposis syndrome"} +{"id": "MONDO_0017380", "parentIds": ["MONDO_0015185", "EFO_0010282"], "name": "juvenile polyposis syndrome"} +{"id": "MONDO_0017381", "parentIds": ["MONDO_0042971", "EFO_1002022"], "name": "congenital herpes simplex virus infection"} {"id": "MONDO_0017382", "parentIds": ["MONDO_0007342"], "name": "familial clubfoot due to 5q31 microdeletion"} -{"id": "MONDO_0017383", "parentIds": ["MONDO_0007342", "MONDO_0019712"], "name": "familial clubfoot due to PITX1 point mutation"} +{"id": "MONDO_0017383", "parentIds": ["MONDO_0007342"], "name": "familial clubfoot due to PITX1 point mutation"} {"id": "MONDO_0017385", "parentIds": ["MONDO_0020070"], "name": "malignant migrating partial seizures of infancy"} {"id": "MONDO_0017386", "parentIds": ["EFO_0002918"], "name": "pleomorphic rhabdomyosarcoma"} {"id": "MONDO_0017387", "parentIds": ["EFO_1001968"], "name": "epithelioid sarcoma"} @@ -7695,10 +9642,9 @@ {"id": "MONDO_0017392", "parentIds": ["MONDO_0020213"], "name": "pre-descemet corneal dystrophy"} {"id": "MONDO_0017393", "parentIds": ["MONDO_0015159"], "name": "blepharophimosis - intellectual disability syndrome"} {"id": "MONDO_0017396", "parentIds": ["EFO_0000701"], "name": "toxic dermatosis"} -{"id": "MONDO_0017397", "parentIds": ["MONDO_0002280"], "name": "constitutional dyserythropoietic anemia"} {"id": "MONDO_0017398", "parentIds": ["MONDO_0015159", "EFO_0000508"], "name": "3MC syndrome"} {"id": "MONDO_0017399", "parentIds": ["MONDO_0010857"], "name": "frontotemporal dementia, right temporal atrophy variant"} -{"id": "MONDO_0017400", "parentIds": ["MONDO_0015214", "MONDO_0015212"], "name": "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome"} +{"id": "MONDO_0017400", "parentIds": ["EFO_0000508"], "name": "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome"} {"id": "MONDO_0017401", "parentIds": ["MONDO_0016342"], "name": "familial isolated arrhythmogenic ventricular dysplasia, left dominant form"} {"id": "MONDO_0017402", "parentIds": ["MONDO_0016342"], "name": "familial isolated arrhythmogenic ventricular dysplasia, biventricular form"} {"id": "MONDO_0017403", "parentIds": ["MONDO_0016342"], "name": "familial isolated arrhythmogenic ventricular dysplasia, right dominant form"} @@ -7706,65 +9652,55 @@ {"id": "MONDO_0017405", "parentIds": ["MONDO_0016883"], "name": "1p21.3 microdeletion syndrome"} {"id": "MONDO_0017406", "parentIds": ["MONDO_0015770"], "name": "hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome"} {"id": "MONDO_0017407", "parentIds": ["MONDO_0014260", "MONDO_0018762"], "name": "deficiency in anterior pituitary function - variable immunodeficiency syndrome"} -{"id": "MONDO_0017408", "parentIds": ["MONDO_0016565"], "name": "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome"} +{"id": "MONDO_0017408", "parentIds": ["EFO_0001379"], "name": "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome"} {"id": "MONDO_0017410", "parentIds": ["MONDO_0017103"], "name": "porencephaly"} -{"id": "MONDO_0017411", "parentIds": ["MONDO_0019268", "MONDO_0100118", "MONDO_0015135", "EFO_0003767", "MONDO_0019751", "MONDO_0023603"], "name": "neonatal inflammatory skin and bowel disease"} -{"id": "MONDO_0017413", "parentIds": ["MONDO_0017749", "MONDO_0018292"], "name": "Reunion island Larsen syndrome"} +{"id": "MONDO_0017411", "parentIds": ["MONDO_0019268", "MONDO_0100118", "EFO_0003767", "MONDO_0019751", "MONDO_0023603"], "name": "neonatal inflammatory skin and bowel disease"} +{"id": "MONDO_0017413", "parentIds": ["MONDO_0017749"], "name": "Reunion island Larsen syndrome"} {"id": "MONDO_0017415", "parentIds": ["MONDO_0015225"], "name": "multiple pterygium syndrome"} {"id": "MONDO_0017417", "parentIds": ["EFO_0000508"], "name": "renal-hepatic-pancreatic dysplasia"} -{"id": "MONDO_0017419", "parentIds": ["MONDO_0019713"], "name": "non-syndromic amelia"} -{"id": "MONDO_0017420", "parentIds": ["MONDO_0019713"], "name": "intercalary limb defects"} -{"id": "MONDO_0017421", "parentIds": ["MONDO_0019713"], "name": "non-syndromic terminal limb defects"} -{"id": "MONDO_0017422", "parentIds": ["MONDO_0017421"], "name": "adactyly of hand"} -{"id": "MONDO_0017423", "parentIds": ["MONDO_0018234"], "name": "split hand or/and split foot malformation"} -{"id": "MONDO_0017424", "parentIds": ["MONDO_0017421", "MONDO_0021004"], "name": "non-syndromic brachydactyly"} +{"id": "MONDO_0017419", "parentIds": ["MONDO_0019713", "MONDO_0018234"], "name": "non-syndromic amelia"} +{"id": "MONDO_0017424", "parentIds": ["MONDO_0021004"], "name": "non-syndromic brachydactyly"} {"id": "MONDO_0017425", "parentIds": ["MONDO_0011348"], "name": "preaxial polydactyly of fingers"} {"id": "MONDO_0017426", "parentIds": ["MONDO_0011348"], "name": "postaxial polydactyly of fingers"} -{"id": "MONDO_0017427", "parentIds": ["MONDO_0015227"], "name": "congenital deformities of limbs"} -{"id": "MONDO_0017428", "parentIds": ["MONDO_0017427"], "name": "congenital deformities of fingers"} -{"id": "MONDO_0017429", "parentIds": ["MONDO_0018454"], "name": "joint formation defects"} -{"id": "MONDO_0017430", "parentIds": ["MONDO_0015227"], "name": "non-syndromic congenital joint dislocations"} -{"id": "MONDO_0017431", "parentIds": ["MONDO_0015227"], "name": "non-syndromic limb overgrowth"} +{"id": "MONDO_0017427", "parentIds": ["OTAR_0000006", "OTAR_0000018"], "name": "congenital deformities of limbs"} {"id": "MONDO_0017435", "parentIds": ["MONDO_0015225"], "name": "popliteal pterygium syndrome"} {"id": "MONDO_0017436", "parentIds": ["MONDO_0015225", "EFO_0000508"], "name": "lethal congenital contracture syndrome"} {"id": "MONDO_0017437", "parentIds": ["MONDO_0017419"], "name": "amelia of upper limb"} {"id": "MONDO_0017438", "parentIds": ["MONDO_0017419"], "name": "amelia of lower limb"} {"id": "MONDO_0017439", "parentIds": ["MONDO_0017419"], "name": "tetra-amelia"} {"id": "MONDO_0017440", "parentIds": ["MONDO_0019713"], "name": "humeral agenesis/hypoplasia"} -{"id": "MONDO_0017441", "parentIds": ["MONDO_0017420"], "name": "congenital absence of upper arm and forearm with hand present"} -{"id": "MONDO_0017442", "parentIds": ["MONDO_0017420"], "name": "congenital absence of thigh and lower leg with foot present"} -{"id": "MONDO_0017443", "parentIds": ["MONDO_0017421"], "name": "congenital absence of both forearm and hand"} -{"id": "MONDO_0017444", "parentIds": ["MONDO_0017421"], "name": "congenital absence of both lower leg and foot"} -{"id": "MONDO_0017445", "parentIds": ["MONDO_0017421"], "name": "acheiria"} -{"id": "MONDO_0017446", "parentIds": ["MONDO_0017421"], "name": "apodia"} -{"id": "MONDO_0017447", "parentIds": ["MONDO_0017422"], "name": "congenital absence/hypoplasia of thumb"} -{"id": "MONDO_0017448", "parentIds": ["MONDO_0017422"], "name": "congenital absence/hypoplasia of fingers excluding thumb"} -{"id": "MONDO_0017449", "parentIds": ["MONDO_0017423"], "name": "split hand"} -{"id": "MONDO_0017450", "parentIds": ["MONDO_0017423"], "name": "split foot"} +{"id": "MONDO_0017441", "parentIds": ["MONDO_0018230", "MONDO_0018234"], "name": "congenital absence of upper arm and forearm with hand present"} +{"id": "MONDO_0017442", "parentIds": ["MONDO_0018234", "MONDO_0018230"], "name": "congenital absence of thigh and lower leg with foot present"} +{"id": "MONDO_0017443", "parentIds": ["MONDO_0018230", "MONDO_0018234"], "name": "congenital absence of both forearm and hand"} +{"id": "MONDO_0017444", "parentIds": ["MONDO_0018234", "MONDO_0018230"], "name": "congenital absence of both lower leg and foot"} +{"id": "MONDO_0017445", "parentIds": ["MONDO_0018230", "MONDO_0018234"], "name": "acheiria"} +{"id": "MONDO_0017446", "parentIds": ["MONDO_0018234", "MONDO_0018230"], "name": "apodia"} +{"id": "MONDO_0017449", "parentIds": ["MONDO_0018234"], "name": "split hand"} +{"id": "MONDO_0017450", "parentIds": ["MONDO_0018234"], "name": "split foot"} {"id": "MONDO_0017451", "parentIds": ["MONDO_0017424"], "name": "non-syndromic brachydactyly of fingers"} {"id": "MONDO_0017452", "parentIds": ["MONDO_0017424"], "name": "non-syndromic brachydactyly of toes"} {"id": "MONDO_0017454", "parentIds": ["MONDO_0019054"], "name": "triphalangeal thumb-polysyndactyly syndrome"} -{"id": "MONDO_0017455", "parentIds": ["MONDO_0019714"], "name": "hyperphalangy"} +{"id": "MONDO_0017455", "parentIds": ["MONDO_0018234"], "name": "hyperphalangy"} {"id": "MONDO_0017456", "parentIds": ["MONDO_0011348"], "name": "central polydactyly of fingers"} {"id": "MONDO_0017457", "parentIds": ["MONDO_0011348"], "name": "Preaxial polydactyly of toes"} {"id": "MONDO_0017460", "parentIds": ["MONDO_0019530"], "name": "syndactyly type 6"} -{"id": "MONDO_0017461", "parentIds": ["MONDO_0017428"], "name": "familial isolated clinodactyly of fingers"} +{"id": "MONDO_0017461", "parentIds": ["OTAR_0000018"], "name": "familial isolated clinodactyly of fingers"} {"id": "MONDO_0017462", "parentIds": ["MONDO_0015525"], "name": "congenital pseudoarthrosis of the tibia"} {"id": "MONDO_0017463", "parentIds": ["MONDO_0015525"], "name": "congenital pseudoarthrosis of the femur"} {"id": "MONDO_0017464", "parentIds": ["MONDO_0015525"], "name": "congenital pseudoarthrosis of the fibula"} {"id": "MONDO_0017465", "parentIds": ["MONDO_0015525"], "name": "congenital pseudoarthrosis of the radius"} {"id": "MONDO_0017466", "parentIds": ["MONDO_0015525"], "name": "congenital pseudoarthrosis of the ulna"} -{"id": "MONDO_0017467", "parentIds": ["MONDO_0017429"], "name": "tibio-fibular synostosis"} -{"id": "MONDO_0017468", "parentIds": ["MONDO_0017430"], "name": "congenital shoulder dislocation"} -{"id": "MONDO_0017469", "parentIds": ["MONDO_0017430"], "name": "congenital elbow dislocation"} -{"id": "MONDO_0017470", "parentIds": ["MONDO_0017430"], "name": "congenital knee dislocation"} -{"id": "MONDO_0017471", "parentIds": ["MONDO_0017430"], "name": "congenital patella dislocation"} +{"id": "MONDO_0017467", "parentIds": ["MONDO_0018234"], "name": "tibio-fibular synostosis"} +{"id": "MONDO_0017468", "parentIds": ["OTAR_0000006", "OTAR_0000018"], "name": "congenital shoulder dislocation"} +{"id": "MONDO_0017469", "parentIds": ["OTAR_0000018", "OTAR_0000006"], "name": "congenital elbow dislocation"} +{"id": "MONDO_0017470", "parentIds": ["OTAR_0000018", "OTAR_0000006"], "name": "congenital knee dislocation"} +{"id": "MONDO_0017471", "parentIds": ["OTAR_0000006", "OTAR_0000018"], "name": "congenital patella dislocation"} {"id": "MONDO_0017472", "parentIds": ["MONDO_0008205"], "name": "patella aplasia/hypoplasia, unilateral"} {"id": "MONDO_0017473", "parentIds": ["MONDO_0008205"], "name": "patella aplasia/hypoplasia, bilateral"} -{"id": "MONDO_0017474", "parentIds": ["MONDO_0017431"], "name": "macrodactyly of fingers"} -{"id": "MONDO_0017475", "parentIds": ["MONDO_0017431"], "name": "macrodactyly of toes"} -{"id": "MONDO_0017476", "parentIds": ["MONDO_0017431"], "name": "upper limb hypertrophy"} -{"id": "MONDO_0017477", "parentIds": ["MONDO_0017431"], "name": "lower limb hypertrophy"} +{"id": "MONDO_0017474", "parentIds": ["OTAR_0000006"], "name": "macrodactyly of fingers"} +{"id": "MONDO_0017475", "parentIds": ["OTAR_0000006"], "name": "macrodactyly of toes"} +{"id": "MONDO_0017476", "parentIds": ["OTAR_0000006"], "name": "upper limb hypertrophy"} +{"id": "MONDO_0017477", "parentIds": ["OTAR_0000006"], "name": "lower limb hypertrophy"} {"id": "MONDO_0017478", "parentIds": ["MONDO_0017437"], "name": "amelia of upper limb, unilateral"} {"id": "MONDO_0017479", "parentIds": ["MONDO_0017437"], "name": "amelia of upper limb, bilateral"} {"id": "MONDO_0017480", "parentIds": ["MONDO_0017438"], "name": "amelia of lower limb, unilateral"} @@ -7791,9 +9727,6 @@ {"id": "MONDO_0017503", "parentIds": ["MONDO_0017445"], "name": "acheiria, bilateral"} {"id": "MONDO_0017504", "parentIds": ["MONDO_0017446"], "name": "apodia, unilateral"} {"id": "MONDO_0017505", "parentIds": ["MONDO_0017446"], "name": "apodia, bilateral"} -{"id": "MONDO_0017506", "parentIds": ["MONDO_0017447"], "name": "congenital absence/hypoplasia of thumb, unilateral"} -{"id": "MONDO_0017507", "parentIds": ["MONDO_0017447"], "name": "congenital absence/hypoplasia of thumb, bilateral"} -{"id": "MONDO_0017508", "parentIds": ["MONDO_0017448"], "name": "congenital absence/hypoplasia of fingers excluding thumb, bilateral"} {"id": "MONDO_0017509", "parentIds": ["MONDO_0018563"], "name": "adactyly of foot, unilateral"} {"id": "MONDO_0017510", "parentIds": ["MONDO_0018563"], "name": "adactyly of foot, bilateral"} {"id": "MONDO_0017511", "parentIds": ["MONDO_0017449"], "name": "split hand, unilateral"} @@ -7852,17 +9785,18 @@ {"id": "MONDO_0017568", "parentIds": ["MONDO_0018234"], "name": "Prata-Liberal-Goncalves syndrome"} {"id": "MONDO_0017569", "parentIds": ["MONDO_0019303", "EFO_1000017"], "name": "de Barsy syndrome"} {"id": "MONDO_0017570", "parentIds": ["MONDO_0015978", "EFO_1000017"], "name": "leukocyte adhesion deficiency"} -{"id": "MONDO_0017571", "parentIds": ["MONDO_0015950"], "name": "Proteus-like syndrome"} -{"id": "MONDO_0017573", "parentIds": ["MONDO_0017576", "MONDO_0015246", "MONDO_0015846"], "name": "46,XX disorder of sex development-anorectal anomalies syndrome"} +{"id": "MONDO_0017571", "parentIds": ["MONDO_0015356", "MONDO_0017623", "EFO_0010285"], "name": "Proteus-like syndrome"} +{"id": "MONDO_0017573", "parentIds": ["MONDO_0017576"], "name": "46,XX disorder of sex development-anorectal anomalies syndrome"} {"id": "MONDO_0017574", "parentIds": ["MONDO_0021189", "MONDO_0004567"], "name": "chronic intestinal pseudoobstruction"} -{"id": "MONDO_0017575", "parentIds": ["MONDO_0009637", "MONDO_0002320", "MONDO_0019238", "MONDO_0020127", "MONDO_0020158"], "name": "mitochondrial neurogastrointestinal encephalomyopathy"} +{"id": "MONDO_0017575", "parentIds": ["MONDO_0009637", "MONDO_0019238", "MONDO_0002320", "MONDO_0020127"], "name": "mitochondrial neurogastrointestinal encephalomyopathy"} {"id": "MONDO_0017576", "parentIds": ["MONDO_0002145"], "name": "46,XX disorder of sex development"} {"id": "MONDO_0017578", "parentIds": ["MONDO_0017758"], "name": "disorder of thiamine metabolism and transport"} -{"id": "MONDO_0017579", "parentIds": ["MONDO_0018838", "MONDO_0015159", "MONDO_0020158"], "name": "Baraitser-Winter cerebrofrontofacial syndrome"} +{"id": "MONDO_0017579", "parentIds": ["MONDO_0018838", "MONDO_0015159"], "name": "Baraitser-Winter cerebrofrontofacial syndrome"} {"id": "MONDO_0017580", "parentIds": ["MONDO_0016948", "MONDO_0015159", "MONDO_0019716"], "name": "11p15.4 microduplication syndrome"} -{"id": "MONDO_0017581", "parentIds": ["EFO_0001379"], "name": "familial infantile gigantism"} {"id": "MONDO_0017582", "parentIds": ["MONDO_0002038", "MONDO_0002415", "EFO_0000228", "EFO_0005578"], "name": "pituitary adenocarcinoma"} {"id": "MONDO_0017583", "parentIds": ["OTAR_0000018"], "name": "mirror polydactyly-vertebral segmentation-limbs defects syndrome"} +{"id": "MONDO_0017588", "parentIds": ["EFO_0000616", "MONDO_0002884"], "name": "nail tumor"} +{"id": "MONDO_0017591", "parentIds": ["MONDO_0002429"], "name": "combined pulmonary fibrosis-emphysema syndrome"} {"id": "MONDO_0017592", "parentIds": ["EFO_1001849"], "name": "staphylococcal toxemia"} {"id": "MONDO_0017593", "parentIds": ["EFO_0001356"], "name": "juvenile amyotrophic lateral sclerosis"} {"id": "MONDO_0017594", "parentIds": ["EFO_1001938"], "name": "indolent B-cell non-Hodgkin lymphoma"} @@ -7870,14 +9804,15 @@ {"id": "MONDO_0017596", "parentIds": ["MONDO_0044887", "EFO_0000403"], "name": "diffuse large B-cell lymphoma of the central nervous system"} {"id": "MONDO_0017599", "parentIds": ["EFO_1000630"], "name": "splenic diffuse red pulp small B-cell lymphoma"} {"id": "MONDO_0017607", "parentIds": ["MONDO_0018075"], "name": "caudal regression sequence"} -{"id": "MONDO_0017609", "parentIds": ["MONDO_0019720"], "name": "renal tubular dysgenesis"} +{"id": "MONDO_0017609", "parentIds": ["EFO_0003086"], "name": "renal tubular dysgenesis"} {"id": "MONDO_0017610", "parentIds": ["MONDO_0019276"], "name": "epidermolysis bullosa simplex"} {"id": "MONDO_0017611", "parentIds": ["MONDO_0002720", "EFO_1000979", "EFO_0003769", "EFO_0009607"], "name": "pituitary tumor"} {"id": "MONDO_0017612", "parentIds": ["MONDO_0019276"], "name": "junctional epidermolysis bullosa"} {"id": "MONDO_0017613", "parentIds": ["OTAR_0000018"], "name": "intellectual disability-hypotonia-skin hyperpigmentation syndrome"} -{"id": "MONDO_0017614", "parentIds": ["MONDO_0020119", "MONDO_0002320", "MONDO_0015159", "MONDO_0017270", "MONDO_0017269"], "name": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome"} -{"id": "MONDO_0017615", "parentIds": ["MONDO_0015642", "MONDO_0015653", "MONDO_0000413"], "name": "benign familial infantile epilepsy"} +{"id": "MONDO_0017614", "parentIds": ["MONDO_0020119", "MONDO_0002320", "MONDO_0015159"], "name": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome"} +{"id": "MONDO_0017615", "parentIds": ["MONDO_0015642", "MONDO_0100545", "MONDO_0000413"], "name": "benign familial infantile epilepsy"} {"id": "MONDO_0017616", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability, Schutz type"} +{"id": "MONDO_0017617", "parentIds": ["MONDO_0017769"], "name": "acquired adult-onset immunodeficiency"} {"id": "MONDO_0017618", "parentIds": ["MONDO_0009114"], "name": "congenital sucrase-isomaltase deficiency with starch intolerance"} {"id": "MONDO_0017619", "parentIds": ["MONDO_0009114"], "name": "congenital sucrase-isomaltase deficiency with minimal starch tolerance"} {"id": "MONDO_0017620", "parentIds": ["MONDO_0009114"], "name": "congenital sucrase-isomaltase deficiency without starch intolerance"} @@ -7887,32 +9822,25 @@ {"id": "MONDO_0017624", "parentIds": ["MONDO_0018100"], "name": "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis"} {"id": "MONDO_0017625", "parentIds": ["MONDO_0018100"], "name": "familial primary hypomagnesemia with hypocalcuria"} {"id": "MONDO_0017626", "parentIds": ["MONDO_0018100"], "name": "familial primary hypomagnesemia with normocalcuria"} -{"id": "MONDO_0017627", "parentIds": ["MONDO_0020132", "MONDO_0015499"], "name": "congenital hereditary facial paralysis-variable hearing loss syndrome"} -{"id": "MONDO_0017629", "parentIds": ["MONDO_0000426", "MONDO_0020127"], "name": "sodium channelopathy-related small fiber neuropathy"} +{"id": "MONDO_0017627", "parentIds": ["MONDO_0023369"], "name": "congenital hereditary facial paralysis-variable hearing loss syndrome"} {"id": "MONDO_0017630", "parentIds": ["MONDO_0020605", "MONDO_0017140"], "name": "X-linked complicated spastic paraplegia type 1"} {"id": "MONDO_0017634", "parentIds": ["EFO_1000811"], "name": "non-infectious anterior uveitis"} {"id": "MONDO_0017636", "parentIds": ["MONDO_0021095"], "name": "hemiparkinsonism-hemiatrophy syndrome"} +{"id": "MONDO_0017639", "parentIds": ["MONDO_0800373", "MONDO_0021095"], "name": "carbon monoxide-induced parkinsonism"} {"id": "MONDO_0017642", "parentIds": ["OTAR_0000018"], "name": "intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome"} -{"id": "MONDO_0017651", "parentIds": ["EFO_0004280"], "name": "primary myoclonus"} -{"id": "MONDO_0017656", "parentIds": ["EFO_0004280"], "name": "motor stereotypies"} {"id": "MONDO_0017658", "parentIds": ["EFO_0004280"], "name": "hyperekplexia"} {"id": "MONDO_0017666", "parentIds": ["MONDO_0019272"], "name": "diffuse palmoplantar keratoderma"} -{"id": "MONDO_0017667", "parentIds": ["MONDO_0017666"], "name": "isolated diffuse palmoplantar keratoderma"} {"id": "MONDO_0017668", "parentIds": ["MONDO_0015159"], "name": "intellectual disability-short stature-hypertelorism syndrome"} -{"id": "MONDO_0017670", "parentIds": ["MONDO_0017666"], "name": "autosomal dominant diffuse mutilating palmoplantar keratoderma"} {"id": "MONDO_0017672", "parentIds": ["MONDO_0019272"], "name": "focal palmoplantar keratoderma"} -{"id": "MONDO_0017673", "parentIds": ["MONDO_0017672"], "name": "isolated focal palmoplantar keratoderma"} {"id": "MONDO_0017675", "parentIds": ["MONDO_0019272"], "name": "punctate palmoplantar keratoderma"} -{"id": "MONDO_0017676", "parentIds": ["MONDO_0016518"], "name": "marginal papular palmoplantar keratoderma"} -{"id": "MONDO_0017677", "parentIds": ["MONDO_0017676"], "name": "focal acral hyperkeratosis"} -{"id": "MONDO_0017681", "parentIds": ["MONDO_0019270"], "name": "erythrokeratoderma variabilis progressiva"} +{"id": "MONDO_0017677", "parentIds": ["MONDO_0017675"], "name": "focal acral hyperkeratosis"} {"id": "MONDO_0017682", "parentIds": ["MONDO_0015159"], "name": "intellectual disability-polydactyly-uncombable hair syndrome"} {"id": "MONDO_0017683", "parentIds": ["MONDO_0018964", "MONDO_0100463"], "name": "methylcobalamin deficiency type cblDv1"} {"id": "MONDO_0017684", "parentIds": ["MONDO_0019189"], "name": "disorder of beta and omega amino acid metabolism"} {"id": "MONDO_0017685", "parentIds": ["MONDO_0100463", "MONDO_0017214"], "name": "vitamin B12-responsive methylmalonic acidemia, type cblDv2"} -{"id": "MONDO_0017686", "parentIds": ["MONDO_0019213"], "name": "inborn aminoacylase deficiency"} +{"id": "MONDO_0017686", "parentIds": ["MONDO_0100545", "MONDO_0019052"], "name": "inborn aminoacylase deficiency"} {"id": "MONDO_0017687", "parentIds": ["MONDO_0019216"], "name": "disorder of neutral amino acid transport"} -{"id": "MONDO_0017688", "parentIds": ["MONDO_0016789", "MONDO_0019214"], "name": "disorder of glycolysis"} +{"id": "MONDO_0017688", "parentIds": ["MONDO_0016789", "MONDO_0019214", "MONDO_0019254"], "name": "disorder of glycolysis"} {"id": "MONDO_0017689", "parentIds": ["MONDO_0019214"], "name": "disorder of fructose metabolism"} {"id": "MONDO_0017690", "parentIds": ["MONDO_0019214"], "name": "disorder of galactose metabolism"} {"id": "MONDO_0017691", "parentIds": ["MONDO_0009257", "MONDO_0800152"], "name": "erythrocyte galactose epimerase deficiency"} @@ -7926,11 +9854,10 @@ {"id": "MONDO_0017700", "parentIds": ["MONDO_0009292"], "name": "glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"} {"id": "MONDO_0017701", "parentIds": ["MONDO_0009292"], "name": "glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form"} {"id": "MONDO_0017703", "parentIds": ["MONDO_0100257"], "name": "disorder of glyoxylate metabolism"} -{"id": "MONDO_0017704", "parentIds": ["MONDO_0015653", "MONDO_0020073", "EFO_0004263", "MONDO_0020072"], "name": "familial partial epilepsy"} +{"id": "MONDO_0017704", "parentIds": ["MONDO_0100545", "MONDO_0020073", "EFO_0004263", "MONDO_0020072"], "name": "familial partial epilepsy"} {"id": "MONDO_0017705", "parentIds": ["MONDO_0020295"], "name": "congenital pulmonary venous return anomaly"} {"id": "MONDO_0017706", "parentIds": ["MONDO_0019214"], "name": "disorder of carbohydrate transmembrane transport and absorption"} {"id": "MONDO_0017708", "parentIds": ["MONDO_0017953", "MONDO_0015905", "MONDO_0019240"], "name": "mevalonate kinase deficiency"} -{"id": "MONDO_0017709", "parentIds": ["MONDO_0002525", "EFO_0009605"], "name": "disorder of lipid absorption and transport"} {"id": "MONDO_0017711", "parentIds": ["MONDO_0013700"], "name": "pancreatic colipase deficiency"} {"id": "MONDO_0017712", "parentIds": ["MONDO_0013700"], "name": "combined pancreatic lipase-colipase deficiency"} {"id": "MONDO_0017713", "parentIds": ["MONDO_0045022", "MONDO_0019223", "MONDO_0037858"], "name": "disorder of fatty acid oxidation and ketogenesis"} @@ -7952,16 +9879,13 @@ {"id": "MONDO_0017732", "parentIds": ["MONDO_0009561"], "name": "alpha-mannosidosis, infantile form"} {"id": "MONDO_0017733", "parentIds": ["MONDO_0009561"], "name": "alpha-mannosidosis, adult form"} {"id": "MONDO_0017734", "parentIds": ["MONDO_0019251"], "name": "sialidosis"} +{"id": "MONDO_0017735", "parentIds": ["MONDO_0042981"], "name": "congenital aortic valve stenosis"} {"id": "MONDO_0017736", "parentIds": ["MONDO_0002561"], "name": "disorder of sialic acid metabolism"} {"id": "MONDO_0017737", "parentIds": ["MONDO_0019366", "MONDO_0017706"], "name": "intermediate severe Salla disease"} {"id": "MONDO_0017738", "parentIds": ["MONDO_0002561"], "name": "lysosomal glycogen storage disease"} {"id": "MONDO_0017739", "parentIds": ["MONDO_0019052"], "name": "disorder of lysosomal-related organelles"} {"id": "MONDO_0017740", "parentIds": ["MONDO_0045010", "MONDO_0015286"], "name": "disorder of protein N-glycosylation"} {"id": "MONDO_0017741", "parentIds": ["MONDO_0045010", "MONDO_0015286"], "name": "disorder of protein O-glycosylation"} -{"id": "MONDO_0017742", "parentIds": ["MONDO_0017741"], "name": "disorder of O-xylosylglycan synthesis"} -{"id": "MONDO_0017743", "parentIds": ["MONDO_0017741"], "name": "disorder of O-N-acetylgalactosaminylglycan synthesis"} -{"id": "MONDO_0017744", "parentIds": ["MONDO_0017741"], "name": "disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis"} -{"id": "MONDO_0017745", "parentIds": ["MONDO_0017741"], "name": "disorder of O-mannosylglycan synthesis"} {"id": "MONDO_0017746", "parentIds": ["EFO_0010642"], "name": "atypical Rett syndrome"} {"id": "MONDO_0017747", "parentIds": ["MONDO_0017741"], "name": "disorder of fucoglycosan synthesis"} {"id": "MONDO_0017748", "parentIds": ["MONDO_0015286", "MONDO_0024321", "MONDO_0002525"], "name": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"} @@ -7970,11 +9894,9 @@ {"id": "MONDO_0017752", "parentIds": ["MONDO_0017749"], "name": "defect in V-ATPase"} {"id": "MONDO_0017754", "parentIds": ["MONDO_0037821", "MONDO_0019052"], "name": "inborn disorder of porphyrin metabolism"} {"id": "MONDO_0017755", "parentIds": ["MONDO_0017754", "MONDO_0024431"], "name": "inborn disorder of bilirubin metabolism"} -{"id": "MONDO_0017756", "parentIds": ["MONDO_0019219"], "name": "disorder of pterin metabolism"} {"id": "MONDO_0017757", "parentIds": ["MONDO_0019052"], "name": "disorder of metabolite absorption and transport"} {"id": "MONDO_0017758", "parentIds": ["MONDO_0017757"], "name": "disorder of vitamin and non-protein cofactor absorption and transport"} {"id": "MONDO_0017759", "parentIds": ["MONDO_0019219"], "name": "disorder of catecholamine synthesis"} -{"id": "MONDO_0017760", "parentIds": ["MONDO_0017758"], "name": "disorder of other vitamins and cofactors metabolism and transport"} {"id": "MONDO_0017761", "parentIds": ["MONDO_0017757"], "name": "disorder of mineral absorption and transport"} {"id": "MONDO_0017762", "parentIds": ["MONDO_0017761"], "name": "disorder of copper metabolism"} {"id": "MONDO_0017763", "parentIds": ["MONDO_0017761"], "name": "disorder of iron metabolism and transport"} @@ -7983,64 +9905,64 @@ {"id": "MONDO_0017766", "parentIds": ["MONDO_0017761"], "name": "disorder of manganese transport"} {"id": "MONDO_0017769", "parentIds": ["EFO_0000540"], "name": "acquired immunodeficiency"} {"id": "MONDO_0017770", "parentIds": ["MONDO_0015160"], "name": "Robinow-like syndrome"} -{"id": "MONDO_0017771", "parentIds": ["MONDO_0015830", "MONDO_0015846"], "name": "Mayer-Rokitansky-Kuster-Hauser syndrome"} +{"id": "MONDO_0017771", "parentIds": ["MONDO_0015830"], "name": "Mayer-Rokitansky-Kuster-Hauser syndrome"} {"id": "MONDO_0017773", "parentIds": ["EFO_0000589"], "name": "hypoalphalipoproteinemia"} {"id": "MONDO_0017774", "parentIds": ["MONDO_0001822"], "name": "hypobetalipoproteinemia"} -{"id": "MONDO_0017778", "parentIds": ["MONDO_0020162", "MONDO_0017262"], "name": "lamellar ichthyosis"} +{"id": "MONDO_0017778", "parentIds": ["MONDO_0100118", "EFO_0003966"], "name": "lamellar ichthyosis"} {"id": "MONDO_0017779", "parentIds": ["MONDO_0019251"], "name": "alpha-N-acetylgalactosaminidase deficiency"} {"id": "MONDO_0017780", "parentIds": ["MONDO_0016898", "MONDO_0015159"], "name": "20p13 microdeletion syndrome"} {"id": "MONDO_0017781", "parentIds": ["MONDO_0022174"], "name": "12p12.1 microdeletion syndrome"} {"id": "MONDO_0017782", "parentIds": ["OTAR_0000018"], "name": "developmental and speech delay due to SOX5 deficiency"} -{"id": "MONDO_0017785", "parentIds": ["MONDO_0015950", "EFO_0009675"], "name": "PENS syndrome"} +{"id": "MONDO_0017785", "parentIds": ["EFO_0009675", "MONDO_0100118"], "name": "PENS syndrome"} {"id": "MONDO_0017786", "parentIds": ["MONDO_0016953"], "name": "2q23.1 microduplication syndrome"} {"id": "MONDO_0017787", "parentIds": ["EFO_0000540"], "name": "erythroderma desquamativum"} {"id": "MONDO_0017788", "parentIds": ["MONDO_0015161"], "name": "contractures - webbed neck - micrognathia - hypoplastic nipples syndrome"} +{"id": "MONDO_0017790", "parentIds": ["MONDO_0018502", "MONDO_0000147"], "name": "gastric adenocarcinoma and proximal polyposis of the stomach"} {"id": "MONDO_0017791", "parentIds": ["MONDO_0019019"], "name": "high bone mass osteogenesis imperfecta"} {"id": "MONDO_0017792", "parentIds": ["MONDO_0015159", "MONDO_0002320", "MONDO_0000508", "MONDO_0016944"], "name": "7p22.1 microduplication syndrome"} {"id": "MONDO_0017793", "parentIds": ["MONDO_0019755"], "name": "marfanoid habitus-inguinal hernia-advanced bone age syndrome"} {"id": "MONDO_0017794", "parentIds": ["MONDO_0017010"], "name": "Xq12-q13.3 duplication syndrome"} -{"id": "MONDO_0017795", "parentIds": ["MONDO_0036976", "MONDO_0000636", "MONDO_0021192"], "name": "ameloblastoma"} -{"id": "MONDO_0017804", "parentIds": ["MONDO_0020240"], "name": "autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"} +{"id": "MONDO_0017795", "parentIds": ["MONDO_0036976", "MONDO_0000636", "MONDO_0000385", "MONDO_0021192"], "name": "ameloblastoma"} +{"id": "MONDO_0017804", "parentIds": ["EFO_0000508"], "name": "autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"} {"id": "MONDO_0017805", "parentIds": ["MONDO_0015159", "MONDO_0100239"], "name": "intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome"} {"id": "MONDO_0017806", "parentIds": ["MONDO_0015159", "MONDO_0016965", "MONDO_0019716"], "name": "15q overgrowth syndrome"} -{"id": "MONDO_0017808", "parentIds": ["EFO_0001379", "MONDO_0017090"], "name": "duplication of the pituitary gland"} +{"id": "MONDO_0017808", "parentIds": ["EFO_0001379", "EFO_0000618"], "name": "duplication of the pituitary gland"} {"id": "MONDO_0017809", "parentIds": ["MONDO_0019262", "MONDO_0011706"], "name": "parkinsonism due to ATP13A2 deficiency"} {"id": "MONDO_0017810", "parentIds": ["MONDO_0018634", "MONDO_0018590"], "name": "variant ABeta2M amyloidosis"} -{"id": "MONDO_0017811", "parentIds": ["MONDO_0016904", "MONDO_0018580"], "name": "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"} -{"id": "MONDO_0017812", "parentIds": ["MONDO_0035162"], "name": "segmental progressive overgrowth syndrome with fibroadipose hyperplasia"} +{"id": "MONDO_0017811", "parentIds": ["MONDO_0016904"], "name": "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"} +{"id": "MONDO_0017812", "parentIds": ["MONDO_0019716"], "name": "segmental progressive overgrowth syndrome with fibroadipose hyperplasia"} {"id": "MONDO_0017813", "parentIds": ["EFO_0000508", "MONDO_0015159"], "name": "van Maldergem syndrome"} -{"id": "MONDO_0017814", "parentIds": ["EFO_1000350", "MONDO_0017207", "MONDO_0023603"], "name": "primary bone lymphoma"} +{"id": "MONDO_0017814", "parentIds": ["EFO_1000350", "MONDO_0017207"], "name": "primary bone lymphoma"} {"id": "MONDO_0017815", "parentIds": ["MONDO_0017410"], "name": "acquired porencephaly"} {"id": "MONDO_0017816", "parentIds": ["MONDO_0019438"], "name": "primary systemic amyloidosis"} {"id": "MONDO_0017817", "parentIds": ["MONDO_0019438"], "name": "primary localized amyloidosis"} {"id": "MONDO_0017818", "parentIds": ["EFO_0004264"], "name": "lethal arteriopathy syndrome due to fibulin-4 deficiency"} {"id": "MONDO_0017819", "parentIds": ["MONDO_0007436"], "name": "atypical dentin dysplasia due to SMOC2 deficiency"} -{"id": "MONDO_0017824", "parentIds": ["MONDO_0023603", "EFO_1000478"], "name": "familial isolated pituitary adenoma"} -{"id": "MONDO_0017828", "parentIds": ["MONDO_0015962"], "name": "primary renal tubular acidosis"} -{"id": "MONDO_0017829", "parentIds": ["MONDO_0008369", "MONDO_0000426"], "name": "autosomal dominant proximal renal tubular acidosis"} +{"id": "MONDO_0017824", "parentIds": ["MONDO_0023603", "EFO_1000478", "MONDO_0100545"], "name": "familial isolated pituitary adenoma"} +{"id": "MONDO_0017829", "parentIds": ["MONDO_0008369", "MONDO_0015962", "MONDO_0000426", "MONDO_0019052"], "name": "autosomal dominant proximal renal tubular acidosis"} {"id": "MONDO_0017830", "parentIds": ["MONDO_0010079"], "name": "severe Canavan disease"} {"id": "MONDO_0017831", "parentIds": ["MONDO_0010079"], "name": "mild Canavan disease"} {"id": "MONDO_0017836", "parentIds": ["MONDO_0019270"], "name": "erythrokeratoderma en cocardes"} -{"id": "MONDO_0017837", "parentIds": ["MONDO_0021181", "MONDO_0002243", "MONDO_0017270", "MONDO_0002242"], "name": "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"} +{"id": "MONDO_0017837", "parentIds": ["MONDO_0002243", "MONDO_0002242"], "name": "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"} {"id": "MONDO_0017838", "parentIds": ["MONDO_0002185", "EFO_0000508"], "name": "sclerosteosis"} {"id": "MONDO_0017839", "parentIds": ["MONDO_0008728"], "name": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"} {"id": "MONDO_0017840", "parentIds": ["MONDO_0008728"], "name": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"} -{"id": "MONDO_0017842", "parentIds": ["MONDO_0015962", "MONDO_0020238", "MONDO_0022409", "MONDO_0022410", "EFO_1000017"], "name": "Senior-Loken syndrome"} +{"id": "MONDO_0017842", "parentIds": ["EFO_0003900", "MONDO_0015962", "EFO_1000017"], "name": "Senior-Loken syndrome"} {"id": "MONDO_0017845", "parentIds": ["EFO_0009671"], "name": "spastic ataxia"} {"id": "MONDO_0017846", "parentIds": ["MONDO_0017845", "MONDO_0000426"], "name": "autosomal dominant spastic ataxia"} {"id": "MONDO_0017847", "parentIds": ["EFO_1000017", "MONDO_0017845"], "name": "autosomal recessive spastic ataxia"} {"id": "MONDO_0017849", "parentIds": ["EFO_0000684"], "name": "Siegler-Brewer-Carey syndrome"} {"id": "MONDO_0017850", "parentIds": ["MONDO_0010831"], "name": "sirenomelia"} -{"id": "MONDO_0017851", "parentIds": ["MONDO_0017667", "MONDO_0017262"], "name": "erythrokeratodermia variabilis"} +{"id": "MONDO_0017851", "parentIds": ["MONDO_0019270", "MONDO_0017666"], "name": "erythrokeratodermia variabilis"} {"id": "MONDO_0017852", "parentIds": ["MONDO_0020071"], "name": "infantile spasms-broad thumbs syndrome"} -{"id": "MONDO_0017853", "parentIds": ["EFO_1001991", "MONDO_0017040", "MONDO_0000771"], "name": "hypersensitivity pneumonitis"} +{"id": "MONDO_0017853", "parentIds": ["EFO_1001991", "EFO_0004244", "MONDO_0000771"], "name": "hypersensitivity pneumonitis"} {"id": "MONDO_0017855", "parentIds": ["MONDO_0015974"], "name": "T-B- severe combined immunodeficiency"} {"id": "MONDO_0017856", "parentIds": ["OTAR_0000018"], "name": "X-linked spasticity-intellectual disability-epilepsy syndrome"} -{"id": "MONDO_0017857", "parentIds": ["MONDO_0015620"], "name": "spina bifida-hypospadias syndrome"} +{"id": "MONDO_0017857", "parentIds": ["OTAR_0000018"], "name": "spina bifida-hypospadias syndrome"} {"id": "MONDO_0017867", "parentIds": ["MONDO_0013415", "MONDO_0015159"], "name": "distal 17p13.1 microdeletion syndrome"} -{"id": "MONDO_0017868", "parentIds": ["MONDO_0957008"], "name": "diencephalic-mesencephalic junction dysplasia"} +{"id": "MONDO_0017868", "parentIds": ["EFO_0000508"], "name": "diencephalic-mesencephalic junction dysplasia"} {"id": "MONDO_0017869", "parentIds": ["MONDO_0018230", "MONDO_0019287", "EFO_0003966"], "name": "chondroectodermal dysplasia with night blindness"} -{"id": "MONDO_0017891", "parentIds": ["MONDO_0015356", "MONDO_0100191"], "name": "inherited renal cancer-predisposing syndrome"} +{"id": "MONDO_0017886", "parentIds": ["EFO_0000681"], "name": "MIT family translocation renal cell carcinoma"} {"id": "MONDO_0017892", "parentIds": ["MONDO_0015168", "MONDO_0019950"], "name": "autosomal recessive myogenic arthrogryposis multiplex congenita"} {"id": "MONDO_0017893", "parentIds": ["MONDO_0023603", "EFO_0000222"], "name": "inherited acute myeloid leukemia"} {"id": "MONDO_0017894", "parentIds": ["EFO_0000222"], "name": "acute myeloid leukemia with CEBPA somatic mutations"} @@ -8048,72 +9970,62 @@ {"id": "MONDO_0017896", "parentIds": ["EFO_0002892", "EFO_0000508"], "name": "familial nonmedullary thyroid carcinoma"} {"id": "MONDO_0017904", "parentIds": ["EFO_0000589"], "name": "steroid dehydrogenase deficiency-dental anomalies syndrome"} {"id": "MONDO_0017906", "parentIds": ["MONDO_0015301"], "name": "amyloidosis cutis dyschromia"} +{"id": "MONDO_0017907", "parentIds": ["MONDO_0003454", "MONDO_0017207", "MONDO_0004034"], "name": "primary lymphoma of the conjunctiva"} {"id": "MONDO_0017909", "parentIds": ["MONDO_0040566", "EFO_0000540"], "name": "inherited glutathione synthetase deficiency"} {"id": "MONDO_0017910", "parentIds": ["MONDO_0020102"], "name": "dehydrated hereditary stomatocytosis"} -{"id": "MONDO_0017912", "parentIds": ["MONDO_0015149"], "name": "X-linked pure spastic paraplegia"} {"id": "MONDO_0017913", "parentIds": ["MONDO_0019064"], "name": "pure or complex hereditary spastic paraplegia"} -{"id": "MONDO_0017914", "parentIds": ["MONDO_0017913"], "name": "pure or complex autosomal dominant spastic paraplegia"} -{"id": "MONDO_0017915", "parentIds": ["MONDO_0017913"], "name": "pure or complex autosomal recessive spastic paraplegia"} -{"id": "MONDO_0017916", "parentIds": ["MONDO_0017913"], "name": "pure or complex X-linked spastic paraplegia"} {"id": "MONDO_0017917", "parentIds": ["MONDO_0015150"], "name": "maternally-inherited spastic paraplegia"} {"id": "MONDO_0017918", "parentIds": ["OTAR_0000018"], "name": "white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome"} {"id": "MONDO_0017919", "parentIds": ["MONDO_0019356", "EFO_0003086"], "name": "exstrophy-epispadias complex"} -{"id": "MONDO_0017920", "parentIds": ["MONDO_0015620", "MONDO_0015159"], "name": "deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome"} +{"id": "MONDO_0017920", "parentIds": ["MONDO_0015159"], "name": "deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome"} {"id": "MONDO_0017921", "parentIds": ["OTAR_0000018"], "name": "hearing loss-familial salivary gland insensitivity to aldosterone syndrome"} -{"id": "MONDO_0017922", "parentIds": ["MONDO_0019287"], "name": "deafness-onychodystrophy syndrome"} -{"id": "MONDO_0017923", "parentIds": ["MONDO_0018454", "MONDO_0019054"], "name": "multiple synostoses syndrome"} -{"id": "MONDO_0017924", "parentIds": ["MONDO_0017828"], "name": "central nervous system calcification-deafness-tubular acidosis-anemia syndrome"} -{"id": "MONDO_0017925", "parentIds": ["MONDO_0015135"], "name": "T-cell immunodeficiency with epidermodysplasia verruciformis"} +{"id": "MONDO_0017923", "parentIds": ["MONDO_0018234", "EFO_0000508", "MONDO_0019054"], "name": "multiple synostoses syndrome"} +{"id": "MONDO_0017924", "parentIds": ["OTAR_0000018"], "name": "central nervous system calcification-deafness-tubular acidosis-anemia syndrome"} +{"id": "MONDO_0017925", "parentIds": ["MONDO_0003778"], "name": "T-cell immunodeficiency with epidermodysplasia verruciformis"} {"id": "MONDO_0017927", "parentIds": ["MONDO_0019698"], "name": "severe lateral tibial bowing with short stature"} {"id": "MONDO_0017928", "parentIds": ["MONDO_0008013", "MONDO_0000508"], "name": "9p13 microdeletion syndrome"} -{"id": "MONDO_0017929", "parentIds": ["MONDO_0002320", "MONDO_0020132"], "name": "congenital achiasma"} +{"id": "MONDO_0017929", "parentIds": ["MONDO_0002320"], "name": "congenital achiasma"} {"id": "MONDO_0017930", "parentIds": ["EFO_0004260"], "name": "mixed sclerosing bone dystrophy with extra-skeletal manifestations"} {"id": "MONDO_0017931", "parentIds": ["MONDO_0016112"], "name": "hereditary inclusion body myopathy type 4"} {"id": "MONDO_0017932", "parentIds": ["MONDO_0015159"], "name": "muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"} -{"id": "MONDO_0017933", "parentIds": ["MONDO_0016387", "MONDO_0017828"], "name": "hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation"} +{"id": "MONDO_0017933", "parentIds": ["MONDO_0016387"], "name": "hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation"} {"id": "MONDO_0017934", "parentIds": ["MONDO_0015159"], "name": "aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome"} {"id": "MONDO_0017935", "parentIds": ["MONDO_0015624"], "name": "hyperinsulinism due to HNF1A deficiency"} {"id": "MONDO_0017936", "parentIds": ["MONDO_0019952"], "name": "benign Samaritan congenital myopathy"} {"id": "MONDO_0017937", "parentIds": ["MONDO_0019548"], "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"} -{"id": "MONDO_0017939", "parentIds": ["MONDO_0018948", "MONDO_0100493"], "name": "minicore myopathy"} +{"id": "MONDO_0017939", "parentIds": ["MONDO_0018948", "MONDO_0100493"], "name": "classic multiminicore myopathy"} {"id": "MONDO_0017940", "parentIds": ["MONDO_0018993"], "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"} {"id": "MONDO_0017945", "parentIds": ["MONDO_0011583"], "name": "ABetaL34V amyloidosis"} {"id": "MONDO_0017946", "parentIds": ["MONDO_0011583"], "name": "ABeta amyloidosis, Iowa type"} {"id": "MONDO_0017947", "parentIds": ["MONDO_0011583"], "name": "ABeta amyloidosis, Italian type"} {"id": "MONDO_0017948", "parentIds": ["MONDO_0011583"], "name": "ABetaA21G amyloidosis"} {"id": "MONDO_0017949", "parentIds": ["MONDO_0011583"], "name": "ABeta amyloidosis, Arctic type"} -{"id": "MONDO_0017950", "parentIds": ["MONDO_0019699", "MONDO_0015159"], "name": "microcephalic primordial dwarfism"} {"id": "MONDO_0017951", "parentIds": ["MONDO_0019695", "MONDO_0019287"], "name": "trichorhinophalangeal syndrome"} {"id": "MONDO_0017953", "parentIds": ["MONDO_0023603", "MONDO_0015137"], "name": "hereditary periodic fever syndrome"} -{"id": "MONDO_0017954", "parentIds": ["MONDO_0019751"], "name": "pyogenic autoinflammatory syndrome"} -{"id": "MONDO_0017955", "parentIds": ["MONDO_0019751"], "name": "granulomatous autoinflammatory syndrome"} -{"id": "MONDO_0017961", "parentIds": ["MONDO_0017576"], "name": "46,XX disorder of gonadal development"} -{"id": "MONDO_0017962", "parentIds": ["MONDO_0020039", "EFO_0009549"], "name": "46,XX disorder of sex development induced by fetoplacental androgens excess"} -{"id": "MONDO_0017966", "parentIds": ["MONDO_0020040"], "name": "46,XY disorder of gonadal development"} -{"id": "MONDO_0017967", "parentIds": ["MONDO_0017966"], "name": "testicular agenesis"} -{"id": "MONDO_0017968", "parentIds": ["MONDO_0017966"], "name": "46,XY ovotesticular disorder of sex development"} -{"id": "MONDO_0017969", "parentIds": ["MONDO_0020040"], "name": "46,XY disorder of sex development of endocrine origin"} +{"id": "MONDO_0017967", "parentIds": ["MONDO_0020040"], "name": "testicular agenesis"} +{"id": "MONDO_0017968", "parentIds": ["MONDO_0020040"], "name": "46,XY ovotesticular disorder of sex development"} {"id": "MONDO_0017972", "parentIds": ["MONDO_0008725"], "name": "classic congenital lipoid adrenal hyperplasia due to STAR deficency"} {"id": "MONDO_0017973", "parentIds": ["MONDO_0008725"], "name": "non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"} {"id": "MONDO_0017975", "parentIds": ["MONDO_0002145"], "name": "sex chromosome disorder of sex development"} -{"id": "MONDO_0017979", "parentIds": ["MONDO_0002459", "MONDO_0021058", "MONDO_0015823", "EFO_0005809", "MONDO_0016537"], "name": "autoimmune lymphoproliferative syndrome"} -{"id": "MONDO_0017980", "parentIds": ["MONDO_0018454"], "name": "syngnathia multiple anomalies"} +{"id": "MONDO_0017979", "parentIds": ["MONDO_0002459", "MONDO_0021058", "EFO_0005809", "MONDO_0016537"], "name": "autoimmune lymphoproliferative syndrome"} +{"id": "MONDO_0017980", "parentIds": ["EFO_0000508", "MONDO_0018234"], "name": "syngnathia multiple anomalies"} {"id": "MONDO_0017981", "parentIds": ["EFO_0000508"], "name": "syngnathia-cleft palate syndrome"} -{"id": "MONDO_0017983", "parentIds": ["MONDO_0017429"], "name": "humero-radio-ulnar synostosis"} -{"id": "MONDO_0017985", "parentIds": ["MONDO_0017429"], "name": "congenital radioulnar synostosis"} +{"id": "MONDO_0017983", "parentIds": ["MONDO_0018234", "EFO_0000508"], "name": "humero-radio-ulnar synostosis"} +{"id": "MONDO_0017985", "parentIds": ["MONDO_0018234"], "name": "congenital radioulnar synostosis"} {"id": "MONDO_0017986", "parentIds": ["MONDO_0002525", "MONDO_0100257"], "name": "disorder of plasmalogens biosynthesis"} {"id": "MONDO_0017987", "parentIds": ["EFO_0009488"], "name": "syringomyelia"} {"id": "MONDO_0017989", "parentIds": ["MONDO_0007263"], "name": "His bundle tachycardia"} -{"id": "MONDO_0017990", "parentIds": ["MONDO_0020575", "MONDO_0000992", "MONDO_0008648"], "name": "catecholaminergic polymorphic ventricular tachycardia"} -{"id": "MONDO_0017992", "parentIds": ["MONDO_0015135", "MONDO_0019751", "MONDO_0002412", "MONDO_0023603", "MONDO_0015823"], "name": "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"} -{"id": "MONDO_0017994", "parentIds": ["MONDO_0020075"], "name": "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"} -{"id": "MONDO_0017995", "parentIds": ["MONDO_0015159", "MONDO_0018454"], "name": "spondylocostal dysostosis-hypospadias-intellectual disability syndrome"} +{"id": "MONDO_0017990", "parentIds": ["MONDO_0000992", "MONDO_0008648", "MONDO_0020575"], "name": "catecholaminergic polymorphic ventricular tachycardia"} +{"id": "MONDO_0017992", "parentIds": ["MONDO_0019751", "MONDO_0002412", "MONDO_0023603", "EFO_0000540"], "name": "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"} +{"id": "MONDO_0017994", "parentIds": ["EFO_0000508"], "name": "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"} +{"id": "MONDO_0017995", "parentIds": ["MONDO_0015159", "EFO_0000508"], "name": "spondylocostal dysostosis-hypospadias-intellectual disability syndrome"} {"id": "MONDO_0017997", "parentIds": ["MONDO_0015159"], "name": "telecanthus-hypertelorism-strabismus-pes cavus syndrome"} {"id": "MONDO_0017998", "parentIds": ["MONDO_0018307"], "name": "PLA2G6-associated neurodegeneration"} -{"id": "MONDO_0017999", "parentIds": ["MONDO_0015089", "MONDO_0018117", "MONDO_0018307", "MONDO_0015905"], "name": "fatty acid hydroxylase-associated neurodegeneration"} -{"id": "MONDO_0018000", "parentIds": ["MONDO_0009332", "MONDO_0019054", "MONDO_0018454", "MONDO_0021181"], "name": "hereditary thrombocytosis with transverse limb defect"} -{"id": "MONDO_0018001", "parentIds": ["MONDO_0024499", "MONDO_0016524"], "name": "inverse Klippel-Trenaunay syndrome"} +{"id": "MONDO_0017999", "parentIds": ["MONDO_0015150", "MONDO_0018117", "MONDO_0018307", "MONDO_0015905"], "name": "fatty acid hydroxylase-associated neurodegeneration"} +{"id": "MONDO_0018000", "parentIds": ["MONDO_0009332", "MONDO_0019054", "MONDO_0018234", "MONDO_0021181"], "name": "hereditary thrombocytosis with transverse limb defect"} +{"id": "MONDO_0018001", "parentIds": ["MONDO_0024296"], "name": "inverse Klippel-Trenaunay syndrome"} {"id": "MONDO_0018002", "parentIds": ["MONDO_0016387", "MONDO_0009637"], "name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"} +{"id": "MONDO_0018004", "parentIds": ["EFO_0003025"], "name": "acute megakaryoblastic leukemia without down syndrome"} {"id": "MONDO_0018005", "parentIds": ["MONDO_0015087"], "name": "spastic paraplegia-Paget disease of bone syndrome"} {"id": "MONDO_0018006", "parentIds": ["MONDO_0016108"], "name": "adult-onset distal myopathy due to VCP mutation"} {"id": "MONDO_0018007", "parentIds": ["MONDO_0700086"], "name": "mosaic genome-wide paternal uniparental disomy"} @@ -8121,6 +10033,7 @@ {"id": "MONDO_0018013", "parentIds": ["MONDO_0018904"], "name": "non-immunoglobulin-mediated membranoproliferative glomerulonephritis"} {"id": "MONDO_0018014", "parentIds": ["MONDO_0017714"], "name": "transient neonatal multiple acyl-CoA dehydrogenase deficiency"} {"id": "MONDO_0018015", "parentIds": ["EFO_0005755"], "name": "intermittent hydrarthrosis"} +{"id": "MONDO_0018017", "parentIds": ["MONDO_0003196", "MONDO_0021659", "MONDO_0002120", "MONDO_0015066"], "name": "goblet cell carcinoma"} {"id": "MONDO_0018021", "parentIds": ["OTAR_0000018"], "name": "hypotrichosis-deafness syndrome"} {"id": "MONDO_0018022", "parentIds": ["MONDO_0017145"], "name": "hemoglobin Lepore-beta-thalassemia syndrome"} {"id": "MONDO_0018023", "parentIds": ["MONDO_0018963"], "name": "hemoglobin M disease"} @@ -8129,43 +10042,44 @@ {"id": "MONDO_0018028", "parentIds": ["MONDO_0016942"], "name": "tetrasomy 5p"} {"id": "MONDO_0018029", "parentIds": ["MONDO_0009332", "MONDO_0002241", "MONDO_0002243"], "name": "congenital factor XIII deficiency"} {"id": "MONDO_0018030", "parentIds": ["MONDO_0700043"], "name": "tetrasomy 9p"} -{"id": "MONDO_0018037", "parentIds": ["MONDO_0015823", "MONDO_0002468"], "name": "hyper-IgE syndrome"} -{"id": "MONDO_0018039", "parentIds": ["MONDO_0015132", "MONDO_0001342"], "name": "selective IgM deficiency"} +{"id": "MONDO_0018037", "parentIds": ["MONDO_0002468"], "name": "hyper-IgE syndrome"} +{"id": "MONDO_0018039", "parentIds": ["MONDO_0001342"], "name": "selective IgM deficiency"} {"id": "MONDO_0018043", "parentIds": ["EFO_0003777", "MONDO_0015161"], "name": "Thomas syndrome"} {"id": "MONDO_0018044", "parentIds": ["EFO_0005246"], "name": "idiopathic hypersomnia"} -{"id": "MONDO_0018045", "parentIds": ["MONDO_0010584", "MONDO_0020022"], "name": "Hoyeraal-Hreidarsson syndrome"} +{"id": "MONDO_0018045", "parentIds": ["MONDO_0010584", "MONDO_0100545", "MONDO_0020022"], "name": "Hoyeraal-Hreidarsson syndrome"} {"id": "MONDO_0018046", "parentIds": ["EFO_0000508"], "name": "thrombocytopenia-Robin sequence syndrome"} {"id": "MONDO_0018047", "parentIds": ["MONDO_0021181"], "name": "familial thrombomodulin anomalies"} -{"id": "MONDO_0018050", "parentIds": ["MONDO_0019054", "MONDO_0018454"], "name": "tibial aplasia-ectrodactyly syndrome"} -{"id": "MONDO_0018053", "parentIds": ["MONDO_0019287", "MONDO_0017270"], "name": "trichothiodystrophy"} -{"id": "MONDO_0018054", "parentIds": ["EFO_0000275", "EFO_0000508"], "name": "familial atrial fibrillation"} +{"id": "MONDO_0018050", "parentIds": ["MONDO_0019054", "EFO_0000508", "MONDO_0018234"], "name": "tibial aplasia-ectrodactyly syndrome"} +{"id": "MONDO_0018053", "parentIds": ["MONDO_0019287"], "name": "trichothiodystrophy"} +{"id": "MONDO_0018054", "parentIds": ["MONDO_0100547", "EFO_0000275"], "name": "familial atrial fibrillation"} +{"id": "MONDO_0018055", "parentIds": ["EFO_0000182", "EFO_1000654"], "name": "pediatric hepatocellular carcinoma"} {"id": "MONDO_0018060", "parentIds": ["MONDO_0002242", "MONDO_0002243"], "name": "congenital fibrinogen deficiency"} {"id": "MONDO_0018061", "parentIds": ["MONDO_0019287"], "name": "trichodermodysplasia-dental alterations syndrome"} {"id": "MONDO_0018062", "parentIds": ["MONDO_0019287"], "name": "autosomal dominant trichoodontoonychodysplasia-syndactyly"} {"id": "MONDO_0018064", "parentIds": ["MONDO_0015338"], "name": "trigonocephaly-broad thumbs syndrome"} {"id": "MONDO_0018065", "parentIds": ["MONDO_0015337", "MONDO_0000156"], "name": "isolated trigonocephaly"} -{"id": "MONDO_0018066", "parentIds": ["MONDO_0700027", "MONDO_0019852", "MONDO_0700065"], "name": "trisomy X"} -{"id": "MONDO_0018067", "parentIds": ["MONDO_0019934", "MONDO_0016565"], "name": "triploidy"} -{"id": "MONDO_0018068", "parentIds": ["MONDO_0015246", "MONDO_0700065", "MONDO_0020247", "MONDO_0700020"], "name": "trisomy 13"} +{"id": "MONDO_0018066", "parentIds": ["MONDO_0700065", "MONDO_0700027", "MONDO_0019852"], "name": "trisomy X"} +{"id": "MONDO_0018067", "parentIds": ["MONDO_0019934"], "name": "triploidy"} +{"id": "MONDO_0018068", "parentIds": ["MONDO_0700065", "MONDO_0020247", "MONDO_0700020"], "name": "trisomy 13"} {"id": "MONDO_0018069", "parentIds": ["MONDO_0016967"], "name": "distal trisomy 17q"} -{"id": "MONDO_0018070", "parentIds": ["MONDO_0015950"], "name": "familial multiple fibrofolliculoma"} -{"id": "MONDO_0018071", "parentIds": ["MONDO_0700125", "MONDO_0700065", "MONDO_0015246"], "name": "trisomy 18"} +{"id": "MONDO_0018070", "parentIds": ["MONDO_0021440", "MONDO_0015356", "MONDO_0100118"], "name": "familial multiple fibrofolliculoma"} +{"id": "MONDO_0018071", "parentIds": ["MONDO_0700065", "MONDO_0700125"], "name": "trisomy 18"} {"id": "MONDO_0018072", "parentIds": ["MONDO_0016581", "EFO_0005207"], "name": "persistent truncus arteriosus"} {"id": "MONDO_0018075", "parentIds": ["MONDO_0020022"], "name": "neural tube defect"} {"id": "MONDO_0018076", "parentIds": ["MONDO_0020590", "MONDO_0000314"], "name": "tuberculosis"} {"id": "MONDO_0018079", "parentIds": ["EFO_0002626", "EFO_0006858"], "name": "thymic epithelial neoplasm"} {"id": "MONDO_0018083", "parentIds": ["MONDO_0004741"], "name": "transient tyrosinemia of the newborn"} -{"id": "MONDO_0018085", "parentIds": ["MONDO_0015212"], "name": "umbilical cord ulceration-intestinal atresia syndrome"} +{"id": "MONDO_0018085", "parentIds": ["EFO_0010282"], "name": "umbilical cord ulceration-intestinal atresia syndrome"} {"id": "MONDO_0018086", "parentIds": ["MONDO_0018855"], "name": "ulerythema ophryogenesis"} {"id": "MONDO_0018087", "parentIds": ["EFO_0000763", "MONDO_0600002"], "name": "viral hemorrhagic fever"} -{"id": "MONDO_0018088", "parentIds": ["MONDO_0015135", "MONDO_0017953"], "name": "familial Mediterranean fever"} -{"id": "MONDO_0018089", "parentIds": ["MONDO_0016581", "MONDO_0017131", "MONDO_0002070"], "name": "double outlet right ventricle"} -{"id": "MONDO_0018091", "parentIds": ["MONDO_0015159", "MONDO_0018454", "MONDO_0019054"], "name": "microcephaly-brachydactyly-kyphoscoliosis syndrome"} +{"id": "MONDO_0018088", "parentIds": ["EFO_0000540", "MONDO_0017953"], "name": "familial Mediterranean fever"} +{"id": "MONDO_0018089", "parentIds": ["MONDO_0016581", "MONDO_0002070"], "name": "double outlet right ventricle"} +{"id": "MONDO_0018091", "parentIds": ["EFO_0000508", "MONDO_0015159", "EFO_0002461", "MONDO_0019054"], "name": "microcephaly-brachydactyly-kyphoscoliosis syndrome"} {"id": "MONDO_0018092", "parentIds": ["EFO_1001082"], "name": "Vogt-Koyanagi-Harada disease"} {"id": "MONDO_0018094", "parentIds": ["MONDO_0000426", "MONDO_0015161"], "name": "Waardenburg syndrome"} {"id": "MONDO_0018095", "parentIds": ["MONDO_0015159"], "name": "Weaver-Williams syndrome"} -{"id": "MONDO_0018096", "parentIds": ["MONDO_0000429", "MONDO_0015161", "MONDO_0019695"], "name": "Weill-Marchesani syndrome"} -{"id": "MONDO_0018097", "parentIds": ["MONDO_0100022", "MONDO_0000413"], "name": "West syndrome"} +{"id": "MONDO_0018096", "parentIds": ["MONDO_0015161", "MONDO_0000429", "MONDO_0019695"], "name": "Weill-Marchesani syndrome"} +{"id": "MONDO_0018097", "parentIds": ["MONDO_0000413", "MONDO_0100022"], "name": "West syndrome"} {"id": "MONDO_0018098", "parentIds": ["MONDO_0016187", "MONDO_0015151"], "name": "autosomal dominant limb-girdle muscular dystrophy type 1E (DES)"} {"id": "MONDO_0018100", "parentIds": ["MONDO_0017765", "MONDO_0004689", "MONDO_0015962"], "name": "familial primary hypomagnesemia"} {"id": "MONDO_0018101", "parentIds": ["MONDO_0017626"], "name": "familial primary hypomagnesemia with normocalciuria and normocalcemia"} @@ -8173,21 +10087,18 @@ {"id": "MONDO_0018105", "parentIds": ["OTAR_0000018"], "name": "Wolfram syndrome"} {"id": "MONDO_0018106", "parentIds": ["MONDO_0000721", "MONDO_0019236"], "name": "hereditary xanthinuria"} {"id": "MONDO_0018109", "parentIds": ["EFO_0001421"], "name": "fulminant viral hepatitis"} -{"id": "MONDO_0018112", "parentIds": ["MONDO_0015337"], "name": "isolated scaphocephaly"} -{"id": "MONDO_0018113", "parentIds": ["MONDO_0015337"], "name": "isolated plagiocephaly"} -{"id": "MONDO_0018114", "parentIds": ["MONDO_0015337"], "name": "isolated brachycephaly"} {"id": "MONDO_0018115", "parentIds": ["EFO_0000625"], "name": "epidermal nevus syndrome"} {"id": "MONDO_0018116", "parentIds": ["MONDO_0017690", "EFO_0003966"], "name": "galactosemia"} {"id": "MONDO_0018117", "parentIds": ["MONDO_0002525"], "name": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"} {"id": "MONDO_0018121", "parentIds": ["MONDO_0016387"], "name": "mitochondrial DNA maintenance syndrome"} {"id": "MONDO_0018122", "parentIds": ["OTAR_0000018"], "name": "digital anomalies-intellectual disability-short stature syndrome"} -{"id": "MONDO_0018123", "parentIds": ["MONDO_0016565"], "name": "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"} +{"id": "MONDO_0018123", "parentIds": ["OTAR_0000018"], "name": "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"} {"id": "MONDO_0018125", "parentIds": ["MONDO_0015653"], "name": "focal epilepsy-intellectual disability-cerebro-cerebellar malformation"} {"id": "MONDO_0018126", "parentIds": ["MONDO_0020071"], "name": "progressive myoclonic epilepsy with dystonia"} {"id": "MONDO_0018127", "parentIds": ["MONDO_0016914", "EFO_0000684"], "name": "16q24.1 microdeletion syndrome"} {"id": "MONDO_0018128", "parentIds": ["MONDO_0019707"], "name": "phalangeal microgeodic syndrome"} {"id": "MONDO_0018129", "parentIds": ["MONDO_0020044", "MONDO_0019255"], "name": "autosomal recessive cerebellar ataxia with late-onset spasticity"} -{"id": "MONDO_0018130", "parentIds": ["MONDO_0019219"], "name": "brain dopamine-serotonin vesicular transport disease"} +{"id": "MONDO_0018130", "parentIds": ["MONDO_0013150", "MONDO_0019219"], "name": "brain dopamine-serotonin vesicular transport disease"} {"id": "MONDO_0018131", "parentIds": ["MONDO_0018681", "MONDO_0016908"], "name": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion"} {"id": "MONDO_0018133", "parentIds": ["MONDO_0020127", "MONDO_0024237"], "name": "attenuated Chédiak-Higashi syndrome"} {"id": "MONDO_0018134", "parentIds": ["MONDO_0019189"], "name": "disorder of melanin metabolism"} @@ -8197,36 +10108,32 @@ {"id": "MONDO_0018141", "parentIds": ["EFO_1001142"], "name": "pyruvate carboxylase deficiency, infantile form"} {"id": "MONDO_0018142", "parentIds": ["EFO_1001142"], "name": "pyruvate carboxylase deficiency, severe neonatal type"} {"id": "MONDO_0018143", "parentIds": ["EFO_1001142"], "name": "pyruvate carboxylase deficiency, benign type"} -{"id": "MONDO_0018144", "parentIds": ["MONDO_0002320", "MONDO_0017740", "MONDO_0018940"], "name": "congenital myasthenic syndromes with glycosylation defect"} -{"id": "MONDO_0018149", "parentIds": ["EFO_0003966", "EFO_0004260", "MONDO_0017719"], "name": "GM1 gangliosidosis"} +{"id": "MONDO_0018149", "parentIds": ["EFO_0004260", "MONDO_0017719", "EFO_0003966"], "name": "GM1 gangliosidosis"} {"id": "MONDO_0018150", "parentIds": ["MONDO_0019255", "EFO_0003966"], "name": "Gaucher disease"} {"id": "MONDO_0018151", "parentIds": ["MONDO_0016387", "MONDO_0020127"], "name": "coenzyme Q10 deficiency"} -{"id": "MONDO_0018154", "parentIds": ["MONDO_0017429", "MONDO_0007481"], "name": "Madelung deformity"} +{"id": "MONDO_0018154", "parentIds": ["MONDO_0007481"], "name": "Madelung deformity"} {"id": "MONDO_0018155", "parentIds": ["MONDO_0024257"], "name": "lateral sclerosis"} {"id": "MONDO_0018156", "parentIds": ["MONDO_0016902"], "name": "3q26q27 microdeletion syndrome"} {"id": "MONDO_0018158", "parentIds": ["MONDO_0016387"], "name": "mitochondrial DNA depletion syndrome"} {"id": "MONDO_0018159", "parentIds": ["MONDO_0016244"], "name": "atypical hemolytic-uremic syndrome with DGKE deficiency"} -{"id": "MONDO_0018160", "parentIds": ["MONDO_0015356", "MONDO_0008380"], "name": "hereditary retinoblastoma"} +{"id": "MONDO_0018160", "parentIds": ["MONDO_0015356", "MONDO_0100545", "MONDO_0008380"], "name": "hereditary retinoblastoma"} {"id": "MONDO_0018162", "parentIds": ["MONDO_0000421"], "name": "neurometabolic disorder due to serine deficiency"} -{"id": "MONDO_0018163", "parentIds": ["MONDO_0019573", "MONDO_0800064"], "name": "autosomal recessive cutis laxa type 2A"} +{"id": "MONDO_0018163", "parentIds": ["MONDO_0800064", "MONDO_0100118", "MONDO_0019573"], "name": "autosomal recessive cutis laxa type 2A"} {"id": "MONDO_0018168", "parentIds": ["MONDO_0019033"], "name": "primary non-essential cutis verticis gyrata"} -{"id": "MONDO_0018169", "parentIds": ["MONDO_0020249", "MONDO_0020145", "MONDO_0007354"], "name": "morning glory syndrome"} +{"id": "MONDO_0018169", "parentIds": ["MONDO_0020249", "MONDO_0007354"], "name": "morning glory syndrome"} {"id": "MONDO_0018170", "parentIds": ["EFO_0004255"], "name": "idiopathic nephrotic syndrome"} -{"id": "MONDO_0018171", "parentIds": ["EFO_1000419", "EFO_1000352", "MONDO_0018202", "MONDO_0018365"], "name": "malignant germ cell tumor of ovary"} +{"id": "MONDO_0018171", "parentIds": ["EFO_1000352", "MONDO_0018202", "MONDO_0018365", "EFO_1000419"], "name": "malignant germ cell tumor of ovary"} +{"id": "MONDO_0018172", "parentIds": ["MONDO_0018365", "MONDO_0021657"], "name": "malignant sex cord stromal tumor of ovary"} {"id": "MONDO_0018174", "parentIds": ["MONDO_0005041", "EFO_0000508"], "name": "hereditary glaucoma"} {"id": "MONDO_0018175", "parentIds": ["MONDO_0002242", "MONDO_0002243"], "name": "combined deficiency of factor V and factor VIII"} {"id": "MONDO_0018177", "parentIds": ["MONDO_0016680"], "name": "glioblastoma"} {"id": "MONDO_0018178", "parentIds": ["EFO_0009431"], "name": "intestinal lymphangiectasia"} -{"id": "MONDO_0018185", "parentIds": ["EFO_0005269", "MONDO_0019063", "MONDO_0016229"], "name": "congenital anomaly of the great veins"} -{"id": "MONDO_0018187", "parentIds": ["OTAR_0000018"], "name": "hereditary syndromic Pierre Robin syndrome"} -{"id": "MONDO_0018188", "parentIds": ["MONDO_0000147", "EFO_0000508", "EFO_0009431"], "name": "hereditary intestinal polyposis"} {"id": "MONDO_0018189", "parentIds": ["MONDO_0019216", "MONDO_0020044"], "name": "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome"} -{"id": "MONDO_0018190", "parentIds": ["MONDO_0016224"], "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy"} -{"id": "MONDO_0018191", "parentIds": ["EFO_0000616"], "name": "tumor of testis and paratestis"} +{"id": "MONDO_0018190", "parentIds": ["MONDO_0019079"], "name": "autosomal dominant childhood-onset proximal spinal muscular atrophy"} {"id": "MONDO_0018197", "parentIds": ["MONDO_0100512", "MONDO_0015962"], "name": "mitochondrial DNA depletion syndrome, hepatocerebrorenal form"} {"id": "MONDO_0018201", "parentIds": ["EFO_0000514"], "name": "extragonadal germ cell tumor"} {"id": "MONDO_0018202", "parentIds": ["EFO_0000514"], "name": "gonadal germ cell tumor"} -{"id": "MONDO_0018203", "parentIds": ["MONDO_0019303", "EFO_0000508", "EFO_0003777"], "name": "LMNA-related cardiocutaneous progeria syndrome"} +{"id": "MONDO_0018203", "parentIds": ["MONDO_0019303", "MONDO_0100547"], "name": "LMNA-related cardiocutaneous progeria syndrome"} {"id": "MONDO_0018204", "parentIds": ["MONDO_0016970", "MONDO_0015159"], "name": "20q11.2 microduplication syndrome"} {"id": "MONDO_0018205", "parentIds": ["MONDO_0022756"], "name": "distal monosomy 1q"} {"id": "MONDO_0018206", "parentIds": ["MONDO_0011577", "MONDO_0016112"], "name": "childhood-onset autosomal recessive myopathy with external ophthalmoplegia"} @@ -8235,431 +10142,406 @@ {"id": "MONDO_0018209", "parentIds": ["MONDO_0008752"], "name": "Alexander disease type I"} {"id": "MONDO_0018210", "parentIds": ["MONDO_0008752"], "name": "Alexander disease type II"} {"id": "MONDO_0018212", "parentIds": ["EFO_1000059", "EFO_0000508"], "name": "familial cervical artery dissection"} -{"id": "MONDO_0018213", "parentIds": ["MONDO_0018117", "MONDO_0015365"], "name": "hereditary sensory and autonomic neuropathy type 1"} -{"id": "MONDO_0018214", "parentIds": ["MONDO_0015653"], "name": "generalized epilepsy with febrile seizures plus"} -{"id": "MONDO_0018215", "parentIds": ["EFO_0000618"], "name": "paraneoplastic neurologic syndrome"} +{"id": "MONDO_0018213", "parentIds": ["MONDO_0018117", "MONDO_0015364"], "name": "hereditary sensory and autonomic neuropathy type 1"} +{"id": "MONDO_0018214", "parentIds": ["MONDO_0100545", "EFO_0000474"], "name": "generalized epilepsy with febrile seizures plus"} +{"id": "MONDO_0018215", "parentIds": ["EFO_0000618", "MONDO_0045054"], "name": "paraneoplastic neurologic syndrome"} {"id": "MONDO_0018216", "parentIds": ["MONDO_0016915", "MONDO_0012496"], "name": "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome"} {"id": "MONDO_0018217", "parentIds": ["MONDO_0012496"], "name": "Koolen-de Vries syndrome due to a point mutation"} {"id": "MONDO_0018218", "parentIds": ["MONDO_0024237", "EFO_1000017"], "name": "autosomal recessive cerebral atrophy"} -{"id": "MONDO_0018222", "parentIds": ["MONDO_0020119", "MONDO_0002320", "MONDO_0015159"], "name": "X-linked intellectual disability due to 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"parentIds": ["MONDO_0000995"], "name": "thyrotoxic periodic paralysis"} {"id": "MONDO_0019202", "parentIds": ["EFO_1001968"], "name": "myxofibrosarcoma"} {"id": "MONDO_0019205", "parentIds": ["MONDO_0019287"], "name": "trichodysplasia-amelogenesis imperfecta syndrome"} -{"id": "MONDO_0019206", "parentIds": ["MONDO_0019287"], "name": "sparse hair-short stature-skin anomalies syndrome"} {"id": "MONDO_0019207", "parentIds": ["MONDO_0100164"], "name": "DEND syndrome"} {"id": "MONDO_0019211", "parentIds": ["MONDO_0019284"], "name": "isolated congenital anonychia"} {"id": "MONDO_0019212", "parentIds": ["EFO_1000757"], "name": "disseminated superficial actinic porokeratosis"} -{"id": "MONDO_0019213", "parentIds": ["MONDO_0000688", "EFO_0005774"], "name": "cerebral organic aciduria"} {"id": "MONDO_0019214", "parentIds": ["MONDO_0037792", "MONDO_0019052"], "name": "inborn carbohydrate metabolic disorder"} {"id": "MONDO_0019215", "parentIds": ["MONDO_0000688"], "name": "classic organic aciduria"} {"id": "MONDO_0019216", "parentIds": ["MONDO_0004736"], "name": "inborn disorder of amino acid transport"} @@ -8668,11 +10550,9 @@ {"id": "MONDO_0019220", "parentIds": ["MONDO_0017758"], "name": "inborn disorder of cobalamin metabolism and transport"} {"id": "MONDO_0019222", "parentIds": ["MONDO_0056803", "MONDO_0045022", "MONDO_0019189"], "name": "inborn disorder of methionine cycle and sulfur amino acid metabolism"} {"id": "MONDO_0019223", "parentIds": ["MONDO_0019243"], "name": "disorder of fatty acid and ketone body metabolism"} -{"id": "MONDO_0019224", "parentIds": ["MONDO_0019250", "MONDO_0037871", "MONDO_0019189"], "name": "inborn disorder of gamma-aminobutyric acid metabolism"} {"id": "MONDO_0019225", "parentIds": ["MONDO_0019214", "EFO_0009406"], "name": "disorder of gluconeogenesis"} {"id": "MONDO_0019226", "parentIds": ["MONDO_0017706", "MONDO_0045015"], "name": "glucose transport disorder"} -{"id": "MONDO_0019227", "parentIds": ["MONDO_0037807", "MONDO_0019214"], "name": "inborn disorder of glycerol metabolism"} -{"id": "MONDO_0019228", "parentIds": ["MONDO_0019189", "MONDO_0037871", "MONDO_0004736"], "name": "inborn disorder of histidine metabolism"} +{"id": "MONDO_0019228", "parentIds": ["MONDO_0045022", "MONDO_0019189", "MONDO_0004736"], "name": "inborn disorder of histidine metabolism"} {"id": "MONDO_0019229", "parentIds": ["MONDO_0019223", "MONDO_0002525"], "name": "inborn disorder of ketolysis"} {"id": "MONDO_0019230", "parentIds": ["MONDO_0019189"], "name": "inborn disorder of ornithine or proline metabolism"} {"id": "MONDO_0019231", "parentIds": ["MONDO_0018605"], "name": "inborn disorder of pentose phosphate metabolism"} @@ -8683,10 +10563,10 @@ {"id": "MONDO_0019236", "parentIds": ["MONDO_0037829", "MONDO_0019254"], "name": "inborn disorder of purine metabolism"} {"id": "MONDO_0019237", "parentIds": ["MONDO_0019250", "EFO_0005596"], "name": "inborn disorder of pyridoxine metabolism"} {"id": "MONDO_0019238", "parentIds": 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"parentIds": ["EFO_1000017", "MONDO_0017950"], "name": "Seckel syndrome"} +{"id": "MONDO_0019342", "parentIds": ["EFO_1000017"], "name": "Seckel syndrome"} {"id": "MONDO_0019346", "parentIds": ["MONDO_0017734", "MONDO_0031422"], "name": "sialidosis type 1"} -{"id": "MONDO_0019347", "parentIds": ["MONDO_0017262"], "name": "peeling skin syndrome"} -{"id": "MONDO_0019349", "parentIds": ["MONDO_0016904", "MONDO_0002320", "MONDO_0015160"], "name": "Sotos syndrome"} +{"id": "MONDO_0019347", "parentIds": ["MONDO_0015947"], "name": "peeling skin syndrome"} +{"id": "MONDO_0019349", "parentIds": ["MONDO_0016904", "MONDO_0018230", "MONDO_0015160"], "name": "Sotos syndrome"} {"id": "MONDO_0019350", "parentIds": ["MONDO_0003689"], "name": "hereditary spherocytosis"} -{"id": "MONDO_0019351", "parentIds": ["MONDO_0015219", "EFO_0003105"], "name": "isolated spina bifida"} +{"id": "MONDO_0019351", "parentIds": ["EFO_0003105"], "name": "isolated spina bifida"} {"id": "MONDO_0019353", "parentIds": 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"EFO_0005755"], "name": "idiopathic juvenile osteoporosis"} {"id": "MONDO_0019411", "parentIds": ["MONDO_0007653"], "name": "genochondromatosis type 1"} {"id": "MONDO_0019412", "parentIds": ["MONDO_0018230"], "name": "dysspondyloenchondromatosis"} -{"id": "MONDO_0019413", "parentIds": ["MONDO_0018454"], "name": "ischio-vertebral syndrome"} +{"id": "MONDO_0019413", "parentIds": ["EFO_0000508", "MONDO_0018234"], "name": "ischio-vertebral syndrome"} {"id": "MONDO_0019414", "parentIds": ["OTAR_0000018"], "name": "BRESEK syndrome"} +{"id": "MONDO_0019415", "parentIds": ["MONDO_0002243"], "name": "fetal and neonatal alloimmune thrombocytopenia"} {"id": "MONDO_0019416", "parentIds": ["MONDO_0015159", "MONDO_0020119", "MONDO_0002320"], "name": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome"} {"id": "MONDO_0019417", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability-precocious puberty-obesity syndrome"} {"id": "MONDO_0019418", "parentIds": ["MONDO_0015159", "MONDO_0020119", "MONDO_0002320"], "name": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome"} @@ -8800,63 +10675,63 @@ {"id": "MONDO_0019428", "parentIds": ["MONDO_0020119"], "name": "fried syndrome"} {"id": "MONDO_0019429", "parentIds": ["MONDO_0024237"], "name": "X-linked neurodegenerative syndrome, Hamel type"} {"id": "MONDO_0019430", "parentIds": ["MONDO_0016612", "MONDO_0020119"], "name": "X-linked intellectual disability-ataxia-apraxia syndrome"} -{"id": "MONDO_0019438", "parentIds": ["MONDO_0016330", "MONDO_0016179", "EFO_1001875", "EFO_1001473"], "name": "AL amyloidosis"} -{"id": "MONDO_0019439", "parentIds": ["EFO_1001875", "EFO_1001473", "MONDO_0016179"], "name": "AA amyloidosis"} +{"id": "MONDO_0019438", "parentIds": ["MONDO_0016330", "EFO_0000618", "EFO_1001875", "EFO_1001473"], "name": "AL amyloidosis"} +{"id": "MONDO_0019439", "parentIds": ["EFO_0000618", "EFO_1001875", "EFO_1001473"], "name": "AA amyloidosis"} {"id": "MONDO_0019441", "parentIds": ["MONDO_0016340", "EFO_0004129"], "name": "ATTRV122I amyloidosis"} -{"id": "MONDO_0019443", "parentIds": ["MONDO_0017131", "MONDO_0000153", "EFO_0005207"], "name": "dextro-looped transposition of the great arteries"} -{"id": "MONDO_0019448", "parentIds": ["MONDO_0020073", "MONDO_0017651", "MONDO_0000160"], "name": "benign adult familial myoclonic epilepsy"} +{"id": "MONDO_0019443", "parentIds": ["MONDO_0100547", "MONDO_0000153", "EFO_0005207"], "name": "dextro-looped transposition of the great arteries"} +{"id": "MONDO_0019448", "parentIds": ["MONDO_0020073", "MONDO_0000160"], "name": "benign adult familial myoclonic epilepsy"} {"id": "MONDO_0019449", "parentIds": ["MONDO_0015148"], "name": "lissencephaly type 3-familial fetal akinesia sequence syndrome"} {"id": "MONDO_0019450", "parentIds": ["MONDO_0018838"], "name": "lissencephaly with cerebellar hypoplasia"} {"id": "MONDO_0019452", "parentIds": ["EFO_0002428"], "name": "myeloproliferative neoplasm, unclassifiable"} {"id": "MONDO_0019453", "parentIds": ["MONDO_0004111", "EFO_0000198"], "name": "myelodysplastic syndrome with multilineage dysplasia"} {"id": "MONDO_0019455", "parentIds": ["MONDO_0015667"], "name": "acute panmyelosis with myelofibrosis"} +{"id": "MONDO_0019456", "parentIds": ["EFO_0000222"], "name": "acute myeloid leukemia with multilineage dysplasia"} {"id": "MONDO_0019457", "parentIds": ["EFO_0000222"], "name": "therapy related acute myeloid leukemia and myelodysplastic syndrome"} {"id": "MONDO_0019460", "parentIds": ["EFO_0000222"], "name": "acute leukemia of ambiguous lineage"} {"id": "MONDO_0019465", "parentIds": ["EFO_1000630"], "name": "nodal marginal zone B-cell lymphoma"} -{"id": "MONDO_0019469", "parentIds": ["MONDO_0015822", "MONDO_0000430", "MONDO_0001014", "EFO_0004289"], "name": "T-cell large granular lymphocyte leukemia"} -{"id": "MONDO_0019470", "parentIds": ["EFO_0000209", "MONDO_0001014", "MONDO_0004805", "MONDO_0003537", "MONDO_0000430"], "name": "aggressive NK-cell leukemia"} -{"id": "MONDO_0019471", "parentIds": ["EFO_1001303", "EFO_0007316", "MONDO_0024294", "MONDO_0017341", "MONDO_0003660", "MONDO_0000621", "MONDO_0015817", "EFO_0005592"], "name": "adult T-cell leukemia/lymphoma"} -{"id": "MONDO_0019472", "parentIds": ["MONDO_0015817", "MONDO_0017343"], "name": "extranodal nasal NK/T cell lymphoma"} +{"id": "MONDO_0019469", "parentIds": ["MONDO_0000430", "MONDO_0001014", "EFO_0000540", "EFO_0004289"], "name": "T-cell large granular lymphocyte leukemia"} +{"id": "MONDO_0019470", "parentIds": ["EFO_0000209", "MONDO_0001014", "MONDO_0003537", "MONDO_0000430"], "name": "aggressive NK-cell leukemia"} +{"id": "MONDO_0019471", "parentIds": ["EFO_1001303", "MONDO_0015760", "EFO_0007316", "MONDO_0017341", "MONDO_0003660", "EFO_0005592"], "name": "adult T-cell leukemia/lymphoma"} +{"id": "MONDO_0019472", "parentIds": ["EFO_0000574", "MONDO_0017343"], "name": "extranodal nasal NK/T cell lymphoma"} {"id": "MONDO_0019473", "parentIds": ["MONDO_0015760"], "name": "enteropathy-associated T-cell lymphoma"} {"id": "MONDO_0019474", "parentIds": ["MONDO_0015760"], "name": "hepatosplenic T-cell lymphoma"} -{"id": "MONDO_0019479", "parentIds": ["MONDO_0020081"], "name": "histiocytic sarcoma"} -{"id": "MONDO_0019484", "parentIds": ["MONDO_0016054"], "name": "hypothalamic hamartomas with gelastic seizures"} -{"id": "MONDO_0019486", "parentIds": ["MONDO_0100207"], "name": "myoclonic epilepsy of infancy"} +{"id": "MONDO_0019479", "parentIds": ["EFO_1000297"], "name": "histiocytic sarcoma"} +{"id": "MONDO_0019484", "parentIds": ["EFO_0005774"], "name": "hypothalamic hamartomas with gelastic seizures"} +{"id": "MONDO_0019485", "parentIds": ["EFO_0005917", "MONDO_0020072", "MONDO_0020071"], "name": "idiopathic hemiconvulsion-hemiplegia syndrome"} {"id": "MONDO_0019487", "parentIds": ["MONDO_0020072", "EFO_0004280"], "name": "epilepsy with myoclonic absences"} {"id": "MONDO_0019488", "parentIds": ["MONDO_0020071"], "name": "myoclonic epilepsy in non-progressive encephalopathies"} {"id": "MONDO_0019489", "parentIds": ["MONDO_0017666"], "name": "diffuse palmoplantar keratoderma - acrocyanosis syndrome"} -{"id": "MONDO_0019490", "parentIds": ["EFO_0000508", "MONDO_0000992"], "name": "progressive familial heart block"} -{"id": "MONDO_0019497", "parentIds": ["MONDO_0037940", "EFO_0004238"], "name": "nonsyndromic genetic hearing loss"} -{"id": "MONDO_0019499", "parentIds": ["MONDO_0001967", "MONDO_0019852", "MONDO_0015620", "MONDO_0020165", "MONDO_0017975"], "name": "Turner syndrome"} +{"id": "MONDO_0019490", "parentIds": ["MONDO_0000992", "MONDO_0100547"], "name": "progressive familial heart block"} +{"id": "MONDO_0019497", "parentIds": ["MONDO_0037940", "MONDO_0100545", "EFO_0004238"], "name": "nonsyndromic genetic hearing loss"} +{"id": "MONDO_0019499", "parentIds": ["MONDO_0001967", "MONDO_0019852", "MONDO_0017975"], "name": "Turner syndrome"} {"id": "MONDO_0019500", "parentIds": ["MONDO_0020539"], "name": "extragonadal teratoma"} -{"id": "MONDO_0019501", "parentIds": ["EFO_1000017", "MONDO_0020240"], "name": "Usher syndrome"} -{"id": "MONDO_0019502", "parentIds": ["EFO_1000017", "MONDO_0000509", "MONDO_0017706"], "name": "autosomal recessive non-syndromic intellectual disability"} -{"id": "MONDO_0019503", "parentIds": ["MONDO_0020145", "EFO_0000508"], "name": "anterior segment dysgenesis"} -{"id": "MONDO_0019505", "parentIds": ["MONDO_0015770"], "name": "hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"} -{"id": "MONDO_0019506", "parentIds": ["MONDO_0015778"], "name": "obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"} +{"id": "MONDO_0019501", "parentIds": ["EFO_1000017"], "name": "Usher syndrome"} +{"id": "MONDO_0019502", "parentIds": ["EFO_1000017", "MONDO_0100545", "MONDO_0000509", "MONDO_0017706"], "name": "autosomal recessive non-syndromic intellectual disability"} +{"id": "MONDO_0019503", "parentIds": ["EFO_0000508", "EFO_0003966"], "name": "anterior segment dysgenesis"} +{"id": "MONDO_0019506", "parentIds": ["OTAR_0000018"], "name": "obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"} {"id": "MONDO_0019507", "parentIds": ["EFO_1001304", "EFO_0000508"], "name": "amelogenesis imperfecta"} {"id": "MONDO_0019508", "parentIds": ["MONDO_0015161"], "name": "van der Woude syndrome"} -{"id": "MONDO_0019513", "parentIds": ["EFO_0009544", "MONDO_0020019"], "name": "esophageal malformation"} {"id": "MONDO_0019514", "parentIds": ["MONDO_0002405"], "name": "hepatic veno-occlusive disease"} {"id": "MONDO_0019516", "parentIds": ["MONDO_0002311", "MONDO_0020248"], "name": "exudative vitreoretinopathy"} {"id": "MONDO_0019517", "parentIds": ["MONDO_0018094"], "name": "Waardenburg syndrome type 2"} {"id": "MONDO_0019518", "parentIds": ["MONDO_0018094", "MONDO_0021189"], "name": "Waardenburg-Shah syndrome"} -{"id": "MONDO_0019520", "parentIds": ["MONDO_0019297"], "name": "syndromic lymphedema"} {"id": "MONDO_0019521", "parentIds": ["EFO_1000692"], "name": "centripetalis recessive dystrophic epidermolysis bullosa"} {"id": "MONDO_0019522", "parentIds": ["EFO_1000692"], "name": "recessive dystrophic epidermolysis bullosa-generalized other"} {"id": "MONDO_0019524", "parentIds": ["MONDO_0015231"], "name": "Bartter syndrome type 4"} {"id": "MONDO_0019525", "parentIds": ["MONDO_0700027", "MONDO_0019852", "MONDO_0030502"], "name": "tetrasomy X"} -{"id": "MONDO_0019530", "parentIds": ["MONDO_0019714", "MONDO_0021002"], "name": "non-syndromic syndactyly"} +{"id": "MONDO_0019530", "parentIds": ["MONDO_0021002"], "name": "non-syndromic syndactyly"} {"id": "MONDO_0019531", "parentIds": ["MONDO_0040566", "MONDO_0003689"], "name": "hemolytic anemia due to glutathione reductase deficiency"} +{"id": "MONDO_0019535", "parentIds": ["EFO_1001264"], "name": "drug-induced autoimmune hemolytic anemia"} {"id": "MONDO_0019537", "parentIds": ["MONDO_0019050", "MONDO_0002280"], "name": "hemoglobin D disease"} -{"id": "MONDO_0019541", "parentIds": ["MONDO_0001280"], "name": "non-infectious posterior uveitis"} +{"id": "MONDO_0019542", "parentIds": ["MONDO_0100192"], "name": "acute liver failure"} +{"id": "MONDO_0019544", "parentIds": ["EFO_0008546"], "name": "cocaine intoxication"} {"id": "MONDO_0019548", "parentIds": ["MONDO_0018778", "MONDO_0000426"], "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease"} -{"id": "MONDO_0019549", "parentIds": ["MONDO_0018775"], "name": "severe early-onset axonal neuropathy due to MFN2 deficiency"} -{"id": "MONDO_0019550", "parentIds": ["MONDO_0018775"], "name": "hereditary motor and sensory neuropathy with acrodystrophy"} -{"id": "MONDO_0019551", "parentIds": ["MONDO_0018775"], "name": "hereditary motor and sensory neuropathy type 6"} +{"id": "MONDO_0019549", "parentIds": ["MONDO_0015358"], "name": "severe early-onset axonal neuropathy due to MFN2 deficiency"} +{"id": "MONDO_0019550", "parentIds": ["MONDO_0015358"], "name": "hereditary motor and sensory neuropathy with acrodystrophy"} +{"id": "MONDO_0019551", "parentIds": ["MONDO_0015358"], "name": "hereditary motor and sensory neuropathy type 6"} {"id": "MONDO_0019557", "parentIds": ["MONDO_0015574", "MONDO_0000603", "MONDO_0019293"], "name": "chilblain lupus"} {"id": "MONDO_0019558", "parentIds": ["MONDO_0015574"], "name": "discoid lupus erythematosus"} -{"id": "MONDO_0019565", "parentIds": ["MONDO_0024574", "MONDO_0002243", "MONDO_0021181"], "name": "hereditary von Willebrand disease"} +{"id": "MONDO_0019565", "parentIds": ["MONDO_0021181", "MONDO_0002243", "MONDO_0024574"], "name": "hereditary von Willebrand disease"} {"id": "MONDO_0019567", "parentIds": ["MONDO_0007522"], "name": "Ehlers-Danlos syndrome, classic type, 1"} {"id": "MONDO_0019568", "parentIds": ["MONDO_0007522"], "name": "Ehlers-Danlos syndrome, classic type, 2"} {"id": "MONDO_0019569", "parentIds": ["MONDO_0016006"], "name": "Cockayne syndrome type 1"} @@ -8867,32 +10742,30 @@ {"id": "MONDO_0019575", "parentIds": ["MONDO_0004907"], "name": "hypotrichosis simplex of the scalp"} {"id": "MONDO_0019577", "parentIds": ["MONDO_0019211"], "name": "anonychia-onychodystrophy syndrome"} {"id": "MONDO_0019586", "parentIds": ["MONDO_0016297", "MONDO_0016298", "MONDO_0020768"], "name": "X-linked nonsyndromic hearing loss"} -{"id": "MONDO_0019587", "parentIds": ["MONDO_0016297", "MONDO_0016298", "MONDO_0000426"], "name": "autosomal dominant nonsyndromic hearing loss"} -{"id": "MONDO_0019588", "parentIds": ["EFO_1000017", "MONDO_0016298", "MONDO_0016297"], "name": "hearing loss, autosomal recessive"} +{"id": "MONDO_0019587", "parentIds": ["MONDO_0000426", "MONDO_0016297", "MONDO_0016298"], "name": "autosomal dominant nonsyndromic hearing loss"} +{"id": "MONDO_0019588", "parentIds": ["MONDO_0016298", "EFO_1000017", "MONDO_0016297"], "name": "hearing loss, autosomal recessive"} {"id": "MONDO_0019591", "parentIds": ["MONDO_0013099"], "name": "panhypopituitarism"} -{"id": "MONDO_0019593", "parentIds": ["MONDO_0020039", "EFO_0009549"], "name": "46,XX disorder of sex development induced by fetal androgens excess"} -{"id": "MONDO_0019597", "parentIds": ["MONDO_0008730"], "name": "46,XY disorder of sex development due to isolated 17,20-lyase deficiency"} -{"id": "MONDO_0019599", "parentIds": ["MONDO_0019296"], "name": "primary lipodystrophy"} {"id": "MONDO_0019600", "parentIds": ["MONDO_0015951", "EFO_0008499"], "name": "xeroderma pigmentosum"} {"id": "MONDO_0019603", "parentIds": ["MONDO_0015159"], "name": "osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome"} -{"id": "MONDO_0019609", "parentIds": ["MONDO_0015327", "MONDO_0019234"], "name": "Zellweger spectrum disorders"} +{"id": "MONDO_0019609", "parentIds": ["MONDO_0019234", "MONDO_0015327"], "name": "Zellweger spectrum disorders"} {"id": "MONDO_0019611", "parentIds": ["MONDO_0003837"], "name": "TSH-secreting pituitary adenoma"} -{"id": "MONDO_0019619", "parentIds": ["MONDO_0015207"], "name": "duplication of the esophagus"} -{"id": "MONDO_0019620", "parentIds": ["MONDO_0015207"], "name": "congenital esophageal diverticulum"} -{"id": "MONDO_0019623", "parentIds": ["EFO_0005532", "MONDO_0100118"], "name": "hereditary angioedema"} +{"id": "MONDO_0019612", "parentIds": ["MONDO_0003429"], "name": "functioning gonadotropic adenoma"} +{"id": "MONDO_0019620", "parentIds": ["EFO_0009544"], "name": "congenital esophageal diverticulum"} +{"id": "MONDO_0019623", "parentIds": ["MONDO_0100118", "EFO_0005532"], "name": "hereditary angioedema"} {"id": "MONDO_0019624", "parentIds": ["EFO_0005532"], "name": "acquired angioedema"} {"id": "MONDO_0019625", "parentIds": ["EFO_0000508", "EFO_0004264"], "name": "familial thoracic aortic aneurysm and aortic dissection"} -{"id": "MONDO_0019626", "parentIds": ["MONDO_0020155", "MONDO_0015217"], "name": "isolated ankyloblepharon filiforme adnatum"} -{"id": "MONDO_0019627", "parentIds": ["MONDO_0020194"], "name": "isolated congenital alacrima"} +{"id": "MONDO_0019626", "parentIds": ["EFO_0003966"], "name": "isolated ankyloblepharon filiforme adnatum"} +{"id": "MONDO_0019627", "parentIds": ["EFO_0009455"], "name": "isolated congenital alacrima"} {"id": "MONDO_0019628", "parentIds": ["MONDO_0011119"], "name": "Rieger anomaly"} -{"id": "MONDO_0019629", "parentIds": ["MONDO_0020219"], "name": "sclerocornea"} +{"id": "MONDO_0019629", "parentIds": ["EFO_0009464"], "name": "sclerocornea"} {"id": "MONDO_0019630", "parentIds": ["MONDO_0011119"], "name": "congenital ectropion uveae"} {"id": "MONDO_0019631", "parentIds": ["MONDO_0004860", "MONDO_0020247"], "name": "persistent hyperplastic primary vitreous"} {"id": "MONDO_0019636", "parentIds": ["MONDO_0018470"], "name": "renal agenesis, unilateral"} -{"id": "MONDO_0019637", "parentIds": ["MONDO_0019720"], "name": "renal hypoplasia"} -{"id": "MONDO_0019638", "parentIds": ["MONDO_0019720"], "name": "renal dysplasia"} +{"id": "MONDO_0019637", "parentIds": ["EFO_0003086"], "name": "renal hypoplasia"} +{"id": "MONDO_0019638", "parentIds": ["EFO_0003086"], "name": "renal dysplasia"} {"id": "MONDO_0019640", "parentIds": ["MONDO_0018559"], "name": "posterior urethral valve"} {"id": "MONDO_0019642", "parentIds": ["MONDO_0017323", "MONDO_0024299"], "name": "vitamin D-dependent rickets, type 2"} +{"id": "MONDO_0019643", "parentIds": ["MONDO_0018638"], "name": "transient pseudohypoaldosteronism"} {"id": "MONDO_0019644", "parentIds": ["MONDO_0019638"], "name": "renal dysplasia, unilateral"} {"id": "MONDO_0019645", "parentIds": ["MONDO_0019638"], "name": "renal dysplasia, bilateral"} {"id": "MONDO_0019648", "parentIds": ["MONDO_0019694", "EFO_0005571"], "name": "achondrogenesis"} @@ -8906,7 +10779,7 @@ {"id": "MONDO_0019661", "parentIds": ["MONDO_0007043"], "name": "Pfeiffer syndrome type 3"} {"id": "MONDO_0019662", "parentIds": ["MONDO_0015461"], "name": "short rib-polydactyly syndrome, Majewski type"} {"id": "MONDO_0019665", "parentIds": ["MONDO_0000845"], "name": "monostotic fibrous dysplasia"} -{"id": "MONDO_0019666", "parentIds": ["MONDO_0100510", "MONDO_0019688"], "name": "spondyloepimetaphyseal dysplasia, PAPSS2 type"} +{"id": "MONDO_0019666", "parentIds": ["MONDO_0100510", "EFO_0009556", "MONDO_0019052"], "name": "spondyloepimetaphyseal dysplasia, PAPSS2 type"} {"id": "MONDO_0019667", "parentIds": ["MONDO_0016761"], "name": "spondyloepiphyseal dysplasia tarda"} {"id": "MONDO_0019669", "parentIds": ["MONDO_0022800", "MONDO_0019648"], "name": "hypochondrogenesis"} {"id": "MONDO_0019670", "parentIds": ["MONDO_0016240"], "name": "ulnar hemimelia"} @@ -8923,29 +10796,19 @@ {"id": "MONDO_0019681", "parentIds": ["MONDO_0009738"], "name": "juvenile sialidosis type 2"} {"id": "MONDO_0019682", "parentIds": ["MONDO_0009738"], "name": "congenital sialidosis type 2"} {"id": "MONDO_0019685", "parentIds": ["MONDO_0018230"], "name": "FGFR3-related chondrodysplasia"} -{"id": "MONDO_0019688", "parentIds": ["MONDO_0056803", "MONDO_0018230", "MONDO_0019052"], "name": "sulfation-related bone disorder"} -{"id": "MONDO_0019689", "parentIds": ["MONDO_0018230"], "name": "perlecan-related bone disorder"} {"id": "MONDO_0019690", "parentIds": ["MONDO_0018230"], "name": "filamin-related bone disorder"} {"id": "MONDO_0019691", "parentIds": ["MONDO_0018230"], "name": "short rib dysplasia"} -{"id": "MONDO_0019692", "parentIds": ["MONDO_0018230"], "name": "multiple epiphyseal dysplasia and pseudoachondroplasia"} -{"id": "MONDO_0019693", "parentIds": ["MONDO_0018230"], "name": "multiple metaphyseal dysplasia"} {"id": "MONDO_0019694", "parentIds": ["MONDO_0018230"], "name": "spondylodysplastic dysplasia"} {"id": "MONDO_0019695", "parentIds": ["MONDO_0018230"], "name": "acromelic dysplasia"} {"id": "MONDO_0019696", "parentIds": ["EFO_0005571", "MONDO_0018230"], "name": "acromesomelic dysplasia"} -{"id": "MONDO_0019697", "parentIds": ["MONDO_0018230"], "name": "mesomelic and rhizo-mesomelic dysplasia"} {"id": "MONDO_0019698", "parentIds": ["MONDO_0018230"], "name": "bent bone dysplasia"} -{"id": "MONDO_0019699", "parentIds": ["MONDO_0018230"], "name": "slender bone dysplasia"} {"id": "MONDO_0019701", "parentIds": ["MONDO_0018230"], "name": "chondrodysplasia punctata"} {"id": "MONDO_0019702", "parentIds": ["MONDO_0018230", "EFO_0005571"], "name": "neonatal osteosclerotic dysplasia"} {"id": "MONDO_0019707", "parentIds": ["MONDO_0018230"], "name": "primary osteolysis"} -{"id": "MONDO_0019712", "parentIds": ["MONDO_0018454", "MONDO_0018230"], "name": "patellar dysostosis"} -{"id": "MONDO_0019713", "parentIds": ["MONDO_0015227", "MONDO_0018230", "MONDO_0018454"], "name": "non-syndromic limb reduction defect"} -{"id": "MONDO_0019714", "parentIds": ["MONDO_0015227", "MONDO_0018454"], "name": "non-syndromic polydactyly, syndactyly and/or hyperphalangy"} -{"id": "MONDO_0019716", "parentIds": ["MONDO_0015330"], "name": "overgrowth syndrome"} -{"id": "MONDO_0019718", "parentIds": ["MONDO_0018230"], "name": "lethal chondrodysplasia"} +{"id": "MONDO_0019713", "parentIds": ["MONDO_0018230"], "name": "non-syndromic limb reduction defect"} +{"id": "MONDO_0019716", "parentIds": ["OTAR_0000018"], "name": "overgrowth syndrome"} {"id": "MONDO_0019719", "parentIds": ["MONDO_0019755", "MONDO_0100191"], "name": "congenital anomaly of kidney and urinary tract"} -{"id": "MONDO_0019720", "parentIds": ["MONDO_0019356", "EFO_0003086"], "name": "non-syndromic renal or urinary tract malformation"} -{"id": "MONDO_0019723", "parentIds": ["EFO_1002049"], "name": "disease of glomerular basement membrane"} +{"id": "MONDO_0019725", "parentIds": ["MONDO_0007915"], "name": "pediatric systemic lupus erythematosus"} {"id": "MONDO_0019731", "parentIds": ["MONDO_0007099"], "name": "AApoAI amyloidosis"} {"id": "MONDO_0019732", "parentIds": ["MONDO_0007099"], "name": "ALys amyloidosis"} {"id": "MONDO_0019733", "parentIds": ["MONDO_0007099"], "name": "AFib amyloidosis"} @@ -8956,14 +10819,13 @@ {"id": "MONDO_0019740", "parentIds": ["MONDO_0018896", "MONDO_0001198"], "name": "acquired thrombotic thrombocytopenic purpura"} {"id": "MONDO_0019741", "parentIds": ["MONDO_0100191", "EFO_0008615"], "name": "familial cystic renal disease"} {"id": "MONDO_0019742", "parentIds": ["MONDO_0019232", "MONDO_0019005"], "name": "late-onset nephronophthisis"} -{"id": "MONDO_0019743", "parentIds": ["EFO_0003086"], "name": "nephropathy secondary to a storage or other metabolic disease"} {"id": "MONDO_0019745", "parentIds": ["MONDO_0009067"], "name": "cystinuria type A"} {"id": "MONDO_0019746", "parentIds": ["MONDO_0009067"], "name": "cystinuria type B"} {"id": "MONDO_0019751", "parentIds": ["EFO_0005755"], "name": "autoinflammatory syndrome"} +{"id": "MONDO_0019752", "parentIds": ["MONDO_0015564"], "name": "pediatric Castleman disease"} {"id": "MONDO_0019755", "parentIds": ["OTAR_0000018"], "name": "developmental defect during embryogenesis"} {"id": "MONDO_0019756", "parentIds": ["MONDO_0016296"], "name": "lobar holoprosencephaly"} {"id": "MONDO_0019757", "parentIds": ["MONDO_0016296"], "name": "alobar holoprosencephaly"} -{"id": "MONDO_0019758", "parentIds": ["MONDO_0016296"], "name": "midline interhemispheric variant of holoprosencephaly"} {"id": "MONDO_0019759", "parentIds": ["MONDO_0017919"], "name": "epispadias"} {"id": "MONDO_0019760", "parentIds": ["MONDO_0015167"], "name": "terminal transverse defects of arm"} {"id": "MONDO_0019766", "parentIds": ["MONDO_0010653"], "name": "X-linked intellectual disability, Porteous type"} @@ -8974,8 +10836,8 @@ {"id": "MONDO_0019771", "parentIds": ["MONDO_0015990", "MONDO_0000477"], "name": "oromandibular dystonia"} {"id": "MONDO_0019772", "parentIds": ["MONDO_0015990"], "name": "blepharospasm-oromandibular dystonia syndrome"} {"id": "MONDO_0019773", "parentIds": ["MONDO_0017069"], "name": "myelomeningocele"} -{"id": "MONDO_0019780", "parentIds": ["MONDO_0019755", "MONDO_0018562"], "name": "anotia"} -{"id": "MONDO_0019782", "parentIds": ["MONDO_0017429"], "name": "humero-ulnar synostosis"} +{"id": "MONDO_0019780", "parentIds": ["MONDO_0019755"], "name": "anotia"} +{"id": "MONDO_0019782", "parentIds": ["MONDO_0018234"], "name": "humero-ulnar synostosis"} {"id": "MONDO_0019784", "parentIds": ["MONDO_0016877"], "name": "12q14 microdeletion syndrome"} {"id": "MONDO_0019786", "parentIds": ["MONDO_0015159"], "name": "severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia"} {"id": "MONDO_0019787", "parentIds": ["MONDO_0000588", "EFO_0009554"], "name": "autoimmune enteropathy"} @@ -8984,28 +10846,28 @@ {"id": "MONDO_0019793", "parentIds": ["MONDO_0020380"], "name": "autosomal dominant cerebellar ataxia type III"} {"id": "MONDO_0019794", "parentIds": ["MONDO_0020380"], "name": "autosomal dominant cerebellar ataxia type IV"} {"id": "MONDO_0019796", "parentIds": ["MONDO_0015338", "MONDO_0019054"], "name": "acrocephalosyndactyly"} -{"id": "MONDO_0019797", "parentIds": ["MONDO_0018454", "MONDO_0018751", "MONDO_0019695", "MONDO_0015483"], "name": "acrodysostosis"} -{"id": "MONDO_0019799", "parentIds": ["MONDO_0015104"], "name": "hepatoerythropoietic porphyria"} -{"id": "MONDO_0019800", "parentIds": ["MONDO_0002520"], "name": "chronic hepatic porphyria"} +{"id": "MONDO_0019797", "parentIds": ["MONDO_0018234", "MONDO_0018751", "MONDO_0019695", "MONDO_0015483"], "name": "acrodysostosis"} +{"id": "MONDO_0019799", "parentIds": ["EFO_0009043"], "name": "hepatoerythropoietic porphyria"} {"id": "MONDO_0019801", "parentIds": ["MONDO_0015128"], "name": "acute adrenal insufficiency"} {"id": "MONDO_0019803", "parentIds": ["MONDO_0003110", "MONDO_0002300", "MONDO_0019293", "MONDO_0016231"], "name": "angioma serpiginosum"} -{"id": "MONDO_0019804", "parentIds": ["MONDO_0002567", "MONDO_0015930", "MONDO_0015505", "MONDO_0018562", "MONDO_0015221"], "name": "tracheomalacia"} +{"id": "MONDO_0019804", "parentIds": ["MONDO_0002567"], "name": "tracheomalacia"} +{"id": "MONDO_0019808", "parentIds": ["EFO_0005207", "MONDO_0017735"], "name": "aortic valve atresia"} {"id": "MONDO_0019817", "parentIds": ["EFO_0009539"], "name": "congenital mitral valve insufficiency and/or stenosis"} {"id": "MONDO_0019820", "parentIds": ["EFO_0005269"], "name": "univentricular cardiopathy"} -{"id": "MONDO_0019821", "parentIds": ["MONDO_0020293"], "name": "aneurysm or dilatation of ascending aorta"} -{"id": "MONDO_0019822", "parentIds": ["MONDO_0020292"], "name": "arterial duct anomaly"} +{"id": "MONDO_0019821", "parentIds": ["MONDO_0020292"], "name": "aneurysm or dilatation of ascending aorta"} {"id": "MONDO_0019824", "parentIds": ["MONDO_0015127", "MONDO_0015514"], "name": "non-acquired pituitary hormone deficiency"} {"id": "MONDO_0019828", "parentIds": ["MONDO_0019824"], "name": "pituitary stalk interruption syndrome"} {"id": "MONDO_0019832", "parentIds": ["MONDO_0015127", "EFO_0001380"], "name": "acquired pituitary hormone deficiency"} +{"id": "MONDO_0019835", "parentIds": ["EFO_0020092", "MONDO_0000569", "MONDO_0021156", "MONDO_0019832"], "name": "primary hypophysitis"} +{"id": "MONDO_0019838", "parentIds": ["MONDO_0024468", "MONDO_0019835"], "name": "adenohypophysitis"} {"id": "MONDO_0019840", "parentIds": ["MONDO_0015856"], "name": "acropectororenal dysplasia"} -{"id": "MONDO_0019844", "parentIds": ["MONDO_0015127"], "name": "pituitary hormone deficiency secondary to storage disease"} {"id": "MONDO_0019846", "parentIds": ["MONDO_0100070", "MONDO_0015127"], "name": "acquired central diabetes insipidus"} -{"id": "MONDO_0019851", "parentIds": ["EFO_0004266", "MONDO_0015860"], "name": "acquired primary ovarian failure"} -{"id": "MONDO_0019852", "parentIds": ["EFO_0004266", "MONDO_0015514", "MONDO_0016072"], "name": "inherited primary ovarian failure"} -{"id": "MONDO_0019854", "parentIds": ["MONDO_0009043", "MONDO_0016409"], "name": "thyroid ectopia"} -{"id": "MONDO_0019855", "parentIds": ["MONDO_0016409", "MONDO_0009043"], "name": "athyreosis"} -{"id": "MONDO_0019860", "parentIds": ["MONDO_0009043", "MONDO_0016409"], "name": "thyroid hemiagenesis"} -{"id": "MONDO_0019861", "parentIds": ["MONDO_0009043", "MONDO_0016409"], "name": "thyroid hypoplasia"} +{"id": "MONDO_0019851", "parentIds": ["EFO_0004266"], "name": "acquired primary ovarian failure"} +{"id": "MONDO_0019852", "parentIds": ["EFO_0000508", "EFO_0004266", "MONDO_0015514"], "name": "inherited primary ovarian failure"} +{"id": "MONDO_0019854", "parentIds": ["MONDO_0009043"], "name": "thyroid ectopia"} +{"id": "MONDO_0019855", "parentIds": ["MONDO_0009043"], "name": "athyreosis"} +{"id": "MONDO_0019860", "parentIds": ["MONDO_0009043"], "name": "thyroid hemiagenesis"} +{"id": "MONDO_0019861", "parentIds": ["MONDO_0009043"], "name": "thyroid hypoplasia"} {"id": "MONDO_0019864", "parentIds": ["MONDO_0030502", "MONDO_0700124"], "name": "tetrasomy 21"} {"id": "MONDO_0019865", "parentIds": ["MONDO_0700065", "MONDO_0700011"], "name": "mosaic trisomy 4"} {"id": "MONDO_0019866", "parentIds": ["MONDO_0700065", "MONDO_0700012"], "name": "mosaic trisomy 5"} @@ -9042,12 +10904,12 @@ {"id": "MONDO_0019898", "parentIds": ["MONDO_0016912"], "name": "distal monosomy 14q"} {"id": "MONDO_0019900", "parentIds": ["MONDO_0016877"], "name": "non-distal monosomy 12q"} {"id": "MONDO_0019901", "parentIds": ["MONDO_0016918"], "name": "non-distal monosomy 20q"} -{"id": "MONDO_0019902", "parentIds": ["MONDO_0016911", "MONDO_0015246"], "name": "monosomy 13q34"} +{"id": "MONDO_0019902", "parentIds": ["MONDO_0016911"], "name": "monosomy 13q34"} {"id": "MONDO_0019903", "parentIds": ["MONDO_0700009", "MONDO_0700091"], "name": "ring chromosome 2"} {"id": "MONDO_0019904", "parentIds": ["MONDO_0700091", "MONDO_0700010"], "name": "ring chromosome 3"} {"id": "MONDO_0019905", "parentIds": ["MONDO_0700091", "MONDO_0700016"], "name": "ring chromosome 9"} {"id": "MONDO_0019906", "parentIds": ["MONDO_0700091", "MONDO_0700018"], "name": "ring chromosome 11"} -{"id": "MONDO_0019907", "parentIds": ["MONDO_0700091", "MONDO_0700020", "MONDO_0015246"], "name": "ring chromosome 13"} +{"id": "MONDO_0019907", "parentIds": ["MONDO_0700091", "MONDO_0700020"], "name": "ring chromosome 13"} {"id": "MONDO_0019908", "parentIds": ["MONDO_0700091", "MONDO_0700022"], "name": "ring chromosome 15"} {"id": "MONDO_0019909", "parentIds": ["MONDO_0700091", "MONDO_0700023"], "name": "ring chromosome 16"} {"id": "MONDO_0019910", "parentIds": ["MONDO_0700086", "MONDO_0700009"], "name": "maternal uniparental disomy of chromosome 2"} @@ -9056,7 +10918,7 @@ {"id": "MONDO_0019913", "parentIds": ["MONDO_0700014", "MONDO_0700086", "MONDO_0008394"], "name": "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"} {"id": "MONDO_0019914", "parentIds": ["MONDO_0700016", "MONDO_0700086"], "name": "maternal uniparental disomy of chromosome 9"} {"id": "MONDO_0019915", "parentIds": ["MONDO_0700021", "MONDO_0014541", "MONDO_0700086"], "name": "maternal uniparental disomy of chromosome 14"} -{"id": "MONDO_0019916", "parentIds": ["MONDO_0700023", "MONDO_0015246", "MONDO_0700086"], "name": "maternal uniparental disomy of chromosome 16"} +{"id": "MONDO_0019916", "parentIds": ["MONDO_0700023", "MONDO_0700086"], "name": "maternal uniparental disomy of chromosome 16"} {"id": "MONDO_0019917", "parentIds": ["MONDO_0700086", "MONDO_0700025"], "name": "maternal uniparental disomy of chromosome 20"} {"id": "MONDO_0019918", "parentIds": ["MONDO_0700086", "MONDO_0700124"], "name": "maternal uniparental disomy of chromosome 21"} {"id": "MONDO_0019919", "parentIds": ["MONDO_0700026", "MONDO_0700086"], "name": "maternal uniparental disomy of chromosome 22"} @@ -9068,13 +10930,13 @@ {"id": "MONDO_0019925", "parentIds": ["MONDO_0700124", "MONDO_0700086"], "name": "paternal uniparental disomy of chromosome 21"} {"id": "MONDO_0019926", "parentIds": ["MONDO_0700027", "MONDO_0019852", "MONDO_0700091"], "name": "X small rings"} {"id": "MONDO_0019927", "parentIds": ["EFO_0006858", "MONDO_0017611"], "name": "growth hormone-producing pituitary gland neoplasm"} -{"id": "MONDO_0019928", "parentIds": ["MONDO_0015620", "MONDO_0030502", "MONDO_0017975", "MONDO_0700027"], "name": "48,XXXY syndrome"} -{"id": "MONDO_0019929", "parentIds": ["MONDO_0700085", "MONDO_0700027", "MONDO_0015620", "MONDO_0017975"], "name": "49,XXXXY syndrome"} +{"id": "MONDO_0019928", "parentIds": ["MONDO_0030502", "MONDO_0017975", "MONDO_0700027"], "name": "48,XXXY syndrome"} +{"id": "MONDO_0019929", "parentIds": ["MONDO_0700085", "MONDO_0700027", "MONDO_0017975"], "name": "49,XXXXY syndrome"} {"id": "MONDO_0019930", "parentIds": ["MONDO_0009384"], "name": "Leydig cell hypoplasia due to complete LH resistance"} {"id": "MONDO_0019931", "parentIds": ["MONDO_0009384"], "name": "Leydig cell hypoplasia due to partial LH resistance"} {"id": "MONDO_0019934", "parentIds": ["MONDO_0019040"], "name": "polyploidy"} {"id": "MONDO_0019935", "parentIds": ["MONDO_0700028"], "name": "isochromosome Y"} -{"id": "MONDO_0019938", "parentIds": ["MONDO_0020019"], "name": "anorectal malformation"} +{"id": "MONDO_0019938", "parentIds": ["OTAR_0000018"], "name": "anorectal malformation"} {"id": "MONDO_0019940", "parentIds": ["MONDO_0019280", "MONDO_0015161"], "name": "hypertrichosis-acromegaloid facial appearance syndrome"} {"id": "MONDO_0019941", "parentIds": ["MONDO_0015364"], "name": "hereditary sensory and autonomic neuropathy type 2"} {"id": "MONDO_0019942", "parentIds": ["MONDO_0003939", "MONDO_0015225", "EFO_0000508"], "name": "distal arthrogryposis"} @@ -9086,28 +10948,23 @@ {"id": "MONDO_0019950", "parentIds": ["MONDO_0020121", "MONDO_0002320"], "name": "congenital muscular dystrophy"} {"id": "MONDO_0019951", "parentIds": ["MONDO_0016197", "MONDO_0016187", "MONDO_0019950"], "name": "rigid spine syndrome"} {"id": "MONDO_0019952", "parentIds": ["MONDO_0700223", "EFO_0004145"], "name": "congenital myopathy"} -{"id": "MONDO_0019956", "parentIds": ["MONDO_0015144"], "name": "encephalitis"} +{"id": "MONDO_0019956", "parentIds": ["EFO_0005774", "EFO_0001423"], "name": "encephalitis"} {"id": "MONDO_0019962", "parentIds": ["MONDO_0002108", "MONDO_0017207"], "name": "thyroid lymphoma"} +{"id": "MONDO_0019963", "parentIds": ["EFO_1000849", "EFO_1001901"], "name": "bronchial endocrine tumor"} {"id": "MONDO_0019964", "parentIds": ["EFO_0002626", "EFO_1001901"], "name": "thymic neuroendocrine tumor"} -{"id": "MONDO_0019978", "parentIds": ["MONDO_0015160", "MONDO_0019697"], "name": "Robinow syndrome"} +{"id": "MONDO_0019978", "parentIds": ["MONDO_0015160", "MONDO_0018230"], "name": "Robinow syndrome"} {"id": "MONDO_0019979", "parentIds": ["MONDO_0019637"], "name": "renal hypoplasia, unilateral"} {"id": "MONDO_0019980", "parentIds": ["MONDO_0019637"], "name": "renal hypoplasia, bilateral"} {"id": "MONDO_0019981", "parentIds": ["MONDO_0015988"], "name": "unilateral multicystic dysplastic kidney"} {"id": "MONDO_0019982", "parentIds": ["MONDO_0015988"], "name": "bilateral multicystic dysplastic kidney"} +{"id": "MONDO_0019985", "parentIds": ["MONDO_0017609"], "name": "drug-related renal tubular dysgenesis"} {"id": "MONDO_0019986", "parentIds": ["MONDO_0019401"], "name": "sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy"} {"id": "MONDO_0019992", "parentIds": ["MONDO_0016165", "MONDO_0015962", "MONDO_0004689", "MONDO_0015327"], "name": "pseudohypoparathyroidism"} {"id": "MONDO_0019994", "parentIds": ["MONDO_0700020", "MONDO_0700086"], "name": "maternal uniparental disomy of chromosome 13"} {"id": "MONDO_0019995", "parentIds": ["MONDO_0016412"], "name": "peripheral resistance to thyroid hormones"} -{"id": "MONDO_0019998", "parentIds": ["MONDO_0020019"], "name": "gastroduodenal malformation"} -{"id": "MONDO_0019999", "parentIds": ["MONDO_0020019"], "name": "intestinal malformation"} {"id": "MONDO_0020001", "parentIds": ["EFO_0000684"], "name": "respiratory or thoracic malformation"} {"id": "MONDO_0020010", "parentIds": ["EFO_0005741", "EFO_0000618"], "name": "infectious disorder of the nervous system"} -{"id": "MONDO_0020018", "parentIds": ["MONDO_0019755"], "name": "cranial malformation"} -{"id": "MONDO_0020019", "parentIds": ["MONDO_0019755"], "name": "digestive tract malformation"} -{"id": "MONDO_0020020", "parentIds": ["MONDO_0019755"], "name": "visceral malformation of the liver, biliary tract, pancreas or spleen"} {"id": "MONDO_0020022", "parentIds": ["EFO_0000618", "MONDO_0019755"], "name": "central nervous system malformation"} -{"id": "MONDO_0020023", "parentIds": ["MONDO_0019755"], "name": "respiratory or mediastinal malformation"} -{"id": "MONDO_0020039", "parentIds": ["MONDO_0017576"], "name": "46,XX disorder of sex development induced by androgens excess"} {"id": "MONDO_0020040", "parentIds": ["MONDO_0002145"], "name": "46,XY disorder of sex development"} {"id": "MONDO_0020043", "parentIds": ["MONDO_0015244"], "name": "autosomal recessive congenital cerebellar ataxia"} {"id": "MONDO_0020044", "parentIds": ["MONDO_0015244"], "name": "autosomal recessive metabolic cerebellar ataxia"} @@ -9119,112 +10976,57 @@ {"id": "MONDO_0020066", "parentIds": ["MONDO_0019755", "EFO_0000508"], "name": "Ehlers-Danlos syndrome"} {"id": "MONDO_0020067", "parentIds": ["MONDO_0019956", "EFO_1001456"], "name": "infectious encephalitis"} {"id": "MONDO_0020068", "parentIds": ["MONDO_0020067", "MONDO_0021669"], "name": "postinfectious encephalitis"} -{"id": "MONDO_0020069", "parentIds": ["MONDO_0020067"], "name": "chronic encephalitis"} {"id": "MONDO_0020070", "parentIds": ["MONDO_0015650"], "name": "neonatal epilepsy syndrome"} {"id": "MONDO_0020071", "parentIds": ["MONDO_0015650"], "name": "infantile epilepsy syndrome"} {"id": "MONDO_0020072", "parentIds": ["MONDO_0015650"], "name": "childhood-onset epilepsy syndrome"} {"id": "MONDO_0020073", "parentIds": ["MONDO_0015650"], "name": "adolescent-onset epilepsy syndrome"} -{"id": "MONDO_0020074", "parentIds": ["MONDO_0100036", "MONDO_0015653", "MONDO_0020073", "MONDO_0020072"], "name": "progressive myoclonus epilepsy"} -{"id": "MONDO_0020075", "parentIds": ["MONDO_0019182"], "name": "hereditary non-syndromic obesity"} +{"id": "MONDO_0020074", "parentIds": ["MONDO_0100545", "MONDO_0100036", "MONDO_0020073", "MONDO_0020072"], "name": "progressive myoclonus epilepsy"} {"id": "MONDO_0020077", "parentIds": ["MONDO_0015756"], "name": "myelodysplastic/myeloproliferative disease"} -{"id": "MONDO_0020081", "parentIds": ["EFO_1000297"], "name": "macrophage or histiocytic tumor"} {"id": "MONDO_0020082", "parentIds": ["EFO_1000297"], "name": "dendritic cell tumor"} -{"id": "MONDO_0020087", "parentIds": ["MONDO_0019599", "MONDO_0100118", "EFO_1000727", "MONDO_0019052"], "name": "hereditary lipodystrophy"} +{"id": "MONDO_0020087", "parentIds": ["MONDO_0100118", "EFO_1000727", "MONDO_0019052"], "name": "hereditary lipodystrophy"} {"id": "MONDO_0020088", "parentIds": ["MONDO_0020087", "MONDO_0021106", "MONDO_0027767"], "name": "familial partial lipodystrophy"} {"id": "MONDO_0020089", "parentIds": ["EFO_1000727", "EFO_1000639"], "name": "acquired lipodystrophy"} -{"id": "MONDO_0020093", "parentIds": ["MONDO_0017667", "MONDO_0000426"], "name": "autosomal dominant isolated diffuse palmoplantar keratoderma"} -{"id": "MONDO_0020096", "parentIds": ["MONDO_0017667", "EFO_1000017"], "name": "autosomal recessive isolated diffuse palmoplantar keratoderma"} {"id": "MONDO_0020099", "parentIds": ["MONDO_0015194", "EFO_0000508"], "name": "inherited sideroblastic anemia"} {"id": "MONDO_0020102", "parentIds": ["MONDO_0004139"], "name": "hereditary stomatocytosis"} {"id": "MONDO_0020112", "parentIds": ["MONDO_0001700", "MONDO_0016624"], "name": "vitamin B12- and folate-independent constitutional megaloblastic anemia"} +{"id": "MONDO_0020113", "parentIds": ["MONDO_0015909"], "name": "primary acquired red cell aplasia"} {"id": "MONDO_0020115", "parentIds": ["EFO_0005804"], "name": "secondary polycythemia"} -{"id": "MONDO_0020117", "parentIds": ["MONDO_0016361"], "name": "alpha granule disease"} -{"id": "MONDO_0020118", "parentIds": ["MONDO_0018795"], "name": "dense granule disease"} +{"id": "MONDO_0020117", "parentIds": ["MONDO_0100241"], "name": "alpha granule disease"} {"id": "MONDO_0020119", "parentIds": ["MONDO_0000508", "MONDO_0100284"], "name": "X-linked syndromic intellectual disability"} {"id": "MONDO_0020120", "parentIds": ["MONDO_0003939"], "name": "skeletal muscle disorder"} -{"id": "MONDO_0020121", "parentIds": ["MONDO_0700223", "EFO_0004145", "EFO_1001902"], "name": "muscular dystrophy"} +{"id": "MONDO_0020121", "parentIds": ["MONDO_0700223", "EFO_0004145", "MONDO_0100546"], "name": "muscular dystrophy"} {"id": "MONDO_0020122", "parentIds": ["MONDO_0600023", "MONDO_0016105"], "name": "acquired idiopathic inflammatory myopathy"} {"id": "MONDO_0020123", "parentIds": ["EFO_0004145"], "name": "metabolic myopathy"} {"id": "MONDO_0020124", "parentIds": ["EFO_1001902"], "name": "neuromuscular junction disease"} -{"id": "MONDO_0020125", "parentIds": ["MONDO_0020124"], "name": "acquired neuromuscular junction disease"} -{"id": "MONDO_0020127", "parentIds": ["EFO_0000508", "EFO_0003100"], "name": "hereditary peripheral neuropathy"} +{"id": "MONDO_0020127", "parentIds": ["EFO_0003100", "MONDO_0100546"], "name": "hereditary peripheral neuropathy"} {"id": "MONDO_0020129", "parentIds": ["EFO_0003782"], "name": "acquired motor neuron disease"} -{"id": "MONDO_0020130", "parentIds": ["MONDO_0015915"], "name": "malformation of the cerebellar vermis"} -{"id": "MONDO_0020132", "parentIds": ["MONDO_0020022"], "name": "cranial nerve and nuclear aplasia"} -{"id": "MONDO_0020133", "parentIds": ["MONDO_0020022"], "name": "posterior fossa malformation"} -{"id": "MONDO_0020134", "parentIds": ["MONDO_0020133", "MONDO_0017104"], "name": "cystic malformation of the posterior fossa"} -{"id": "MONDO_0020135", "parentIds": ["MONDO_0957009"], "name": "pontocerebellar hypoplasia"} -{"id": "MONDO_0020143", "parentIds": ["EFO_0005774", "MONDO_0015547", "MONDO_0019245"], "name": "cerebral lipidosis with dementia"} -{"id": "MONDO_0020144", "parentIds": ["MONDO_0001627"], "name": "cerebrovascular dementia"} -{"id": "MONDO_0020145", "parentIds": ["MONDO_0019755", "EFO_0003966"], "name": "developmental defect of the eye"} -{"id": "MONDO_0020146", "parentIds": ["MONDO_0020145"], "name": "major induction processes eye anomaly"} -{"id": "MONDO_0020147", "parentIds": ["MONDO_0020146"], "name": "anophthalmia-microphthalmia syndrome"} -{"id": "MONDO_0020148", "parentIds": ["MONDO_0011119", "MONDO_0019172"], "name": "syndromic aniridia"} +{"id": "MONDO_0020134", "parentIds": ["MONDO_0020022"], "name": "cystic malformation of the posterior fossa"} +{"id": "MONDO_0020135", "parentIds": ["MONDO_0100545", "MONDO_0020022"], "name": "pontocerebellar hypoplasia"} +{"id": "MONDO_0020143", "parentIds": ["EFO_0005774", "MONDO_0100545", "MONDO_0015547", "MONDO_0019245"], "name": "cerebral lipidosis with dementia"} {"id": "MONDO_0020153", "parentIds": ["EFO_0009547"], "name": "cryptophthalmia"} -{"id": "MONDO_0020154", "parentIds": ["EFO_0009547"], "name": "microblepharon-ablephara syndrome"} -{"id": "MONDO_0020155", "parentIds": ["EFO_0009547"], "name": "eyelid border anomaly"} -{"id": "MONDO_0020156", "parentIds": ["MONDO_0020155"], "name": "syndromic ankyloblepharon"} -{"id": "MONDO_0020157", "parentIds": ["MONDO_0020155"], "name": "syndromic palpebral coloboma"} -{"id": "MONDO_0020158", "parentIds": ["EFO_0009547"], "name": "eyelids malposition disorder"} -{"id": "MONDO_0020159", "parentIds": ["MONDO_0001519", "MONDO_0020158"], "name": "congenital entropion"} -{"id": "MONDO_0020160", "parentIds": ["MONDO_0020159"], "name": "secondary entropion"} -{"id": "MONDO_0020161", "parentIds": ["MONDO_0020158", "MONDO_0002043"], "name": "congenital ectropion"} -{"id": "MONDO_0020162", "parentIds": ["MONDO_0020158"], "name": "secondary ectropion"} -{"id": "MONDO_0020163", "parentIds": ["EFO_0009547"], "name": "canthal anomaly"} -{"id": "MONDO_0020164", "parentIds": ["MONDO_0020163"], "name": "epicanthal fold"} -{"id": "MONDO_0020165", "parentIds": ["MONDO_0020164"], "name": "syndromic epicanthus"} -{"id": "MONDO_0020167", "parentIds": ["MONDO_0020163"], "name": "malposition of external canthus"} +{"id": "MONDO_0020159", "parentIds": ["MONDO_0001519"], "name": "congenital entropion"} +{"id": "MONDO_0020161", "parentIds": ["MONDO_0002043"], "name": "congenital ectropion"} {"id": "MONDO_0020172", "parentIds": ["EFO_1000934"], "name": "palpebral epidermal tumor"} {"id": "MONDO_0020173", "parentIds": ["MONDO_0021605", "MONDO_0020172"], "name": "benign tumor of palpebral epidermis"} -{"id": "MONDO_0020174", "parentIds": ["MONDO_0021074", "MONDO_0020172"], "name": "precancerous lesion of palpebral epidermis"} {"id": "MONDO_0020175", "parentIds": ["MONDO_0020172", "MONDO_0021313"], "name": "malignant tumor of palpebral epidermis"} -{"id": "MONDO_0020176", "parentIds": ["EFO_1000934", "EFO_1001172"], "name": "palpebral sebaceous gland tumor"} -{"id": "MONDO_0020177", "parentIds": ["EFO_1000934"], "name": "pigmented palpebral tumor"} -{"id": "MONDO_0020178", "parentIds": ["MONDO_0020172", "MONDO_0015950", "MONDO_0020177", "MONDO_0021582"], "name": "palpebral lentiginosis"} -{"id": "MONDO_0020179", "parentIds": ["MONDO_0020173", "MONDO_0020177", "EFO_0009675"], "name": "palpebral nevus"} -{"id": "MONDO_0020180", "parentIds": ["EFO_1000934"], "name": "palpebral piliary tumor"} -{"id": "MONDO_0020181", "parentIds": ["EFO_1000934"], "name": "mesenchymatous palpebral tumor"} +{"id": "MONDO_0020179", "parentIds": ["MONDO_0020173", "EFO_0009675"], "name": "palpebral nevus"} {"id": "MONDO_0020183", "parentIds": ["EFO_1000934"], "name": "neurogenic palpebral tumor"} -{"id": "MONDO_0020193", "parentIds": ["EFO_0009455"], "name": "secretory apparatus of the lacrimal system anomaly"} -{"id": "MONDO_0020194", "parentIds": ["MONDO_0020193"], "name": "congenital alacrima"} -{"id": "MONDO_0020195", "parentIds": ["EFO_0009455"], "name": "excretory apparatus of the lacrimal system anomaly"} -{"id": "MONDO_0020196", "parentIds": ["EFO_0009455"], "name": "anomaly of the secretory and excretory apparatus of the lacrimal system"} -{"id": "MONDO_0020197", "parentIds": ["MONDO_0020196", "MONDO_0019287"], "name": "EEC syndrome and related syndrome"} -{"id": "MONDO_0020203", "parentIds": ["EFO_1000203"], "name": "pigmented conjunctival lesion"} {"id": "MONDO_0020204", "parentIds": ["EFO_0003824", "EFO_1000203"], "name": "conjunctival tumor"} -{"id": "MONDO_0020205", "parentIds": ["MONDO_0020204"], "name": "bulbar conjunctival dermoid or conjunctival dermolipoma"} -{"id": "MONDO_0020210", "parentIds": ["MONDO_0004891"], "name": "syndromic hyperopia"} -{"id": "MONDO_0020211", "parentIds": ["MONDO_0015486"], "name": "syndromic keratoconus"} {"id": "MONDO_0020212", "parentIds": ["MONDO_0018102"], "name": "superficial corneal dystrophy"} {"id": "MONDO_0020213", "parentIds": ["MONDO_0018102"], "name": "stromal corneal dystrophy"} {"id": "MONDO_0020214", "parentIds": ["MONDO_0018102"], "name": "posterior corneal dystrophy"} -{"id": "MONDO_0020215", "parentIds": ["MONDO_0018102"], "name": "syndromic corneal dystrophy"} -{"id": "MONDO_0020216", "parentIds": ["MONDO_0018174"], "name": "secondary dysgenetic glaucoma"} -{"id": "MONDO_0020219", "parentIds": ["EFO_0009464"], "name": "corneogoniodysgenesis"} -{"id": "MONDO_0020235", "parentIds": ["EFO_0003966"], "name": "lens size anomaly"} -{"id": "MONDO_0020237", "parentIds": ["EFO_0003966"], "name": "lens shape anomaly"} -{"id": "MONDO_0020238", "parentIds": ["EFO_0008624", "EFO_0003839", "EFO_0000508"], "name": "inherited vitreous-retinal disease"} -{"id": "MONDO_0020240", "parentIds": ["MONDO_0019200"], "name": "syndromic retinitis pigmentosa"} {"id": "MONDO_0020242", "parentIds": ["MONDO_0019118"], "name": "hereditary macular dystrophy"} -{"id": "MONDO_0020246", "parentIds": ["MONDO_0020238"], "name": "inherited vitreoretinopathy"} +{"id": "MONDO_0020246", "parentIds": ["MONDO_0100545", "EFO_0003839"], "name": "inherited vitreoretinopathy"} {"id": "MONDO_0020247", "parentIds": ["MONDO_0020246", "MONDO_0002320"], "name": "congenital vitreoretinal dysplasia"} {"id": "MONDO_0020248", "parentIds": ["MONDO_0001377", "MONDO_0024237", "MONDO_0020246"], "name": "vitreoretinal degeneration"} {"id": "MONDO_0020249", "parentIds": ["EFO_0003966"], "name": "hereditary optic neuropathy"} {"id": "MONDO_0020250", "parentIds": ["MONDO_0043878", "MONDO_0000426", "MONDO_0020249", "MONDO_0004884"], "name": "autosomal dominant optic atrophy"} -{"id": "MONDO_0020252", "parentIds": ["MONDO_0015368"], "name": "essential strabismus"} -{"id": "MONDO_0020256", "parentIds": ["MONDO_0001146"], "name": "congenital trochlear nerve palsy"} +{"id": "MONDO_0020252", "parentIds": ["EFO_0003966"], "name": "essential strabismus"} {"id": "MONDO_0020257", "parentIds": ["MONDO_0001309"], "name": "supranuclear oculomotor palsy"} -{"id": "MONDO_0020275", "parentIds": ["EFO_0003966", "MONDO_0043209"], "name": "oculocutaneous or ocular albinism"} -{"id": "MONDO_0020284", "parentIds": ["EFO_0005269"], "name": "heart position anomaly"} -{"id": "MONDO_0020285", "parentIds": ["EFO_0005269"], "name": "transposition of the great arteries and conotruncal cardiac anomaly"} -{"id": "MONDO_0020286", "parentIds": ["MONDO_0020292", "MONDO_0020285", "EFO_0005775"], "name": "aortic malformation"} -{"id": "MONDO_0020288", "parentIds": ["EFO_0009551", "EFO_0005269"], "name": "atrioventricular valve anomaly"} -{"id": "MONDO_0020289", "parentIds": ["EFO_0009568", "MONDO_0020288"], "name": "congenital tricuspid malformation"} -{"id": "MONDO_0020290", "parentIds": ["MONDO_0002078", "MONDO_0020288"], "name": "familial atrioventricular septal defect"} -{"id": "MONDO_0020292", "parentIds": ["MONDO_0019063", "EFO_0005269", "MONDO_0016229"], "name": "congenital anomaly of the great arteries"} -{"id": "MONDO_0020293", "parentIds": ["MONDO_0020292"], "name": "ascending aorta anomaly"} -{"id": "MONDO_0020294", "parentIds": ["EFO_0005269"], "name": "atrial defect and interatrial communication"} -{"id": "MONDO_0020295", "parentIds": ["MONDO_0018185", "EFO_0005207"], "name": "congenital pulmonary veins anomaly"} +{"id": "MONDO_0020289", "parentIds": ["EFO_0009568"], "name": "congenital tricuspid malformation"} +{"id": "MONDO_0020290", "parentIds": ["MONDO_0002078", "MONDO_0100547"], "name": "familial atrioventricular septal defect"} +{"id": "MONDO_0020292", "parentIds": ["EFO_0005269"], "name": "congenital anomaly of the great arteries"} +{"id": "MONDO_0020295", "parentIds": ["EFO_0005207"], "name": "congenital pulmonary veins anomaly"} {"id": "MONDO_0020297", "parentIds": ["EFO_1001502", "MONDO_0024573"], "name": "Noonan syndrome and Noonan-related syndrome"} {"id": "MONDO_0020298", "parentIds": ["MONDO_0700086", "MONDO_0700022", "MONDO_0008300"], "name": "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"} {"id": "MONDO_0020300", "parentIds": ["MONDO_0017704", "MONDO_0002612"], "name": "autosomal dominant nocturnal frontal lobe epilepsy"} @@ -9238,18 +11040,15 @@ {"id": "MONDO_0020310", "parentIds": ["MONDO_0017704", "MONDO_0100036"], "name": "familial focal epilepsy with variable foci"} {"id": "MONDO_0020336", "parentIds": ["MONDO_0000426", "MONDO_0021106", "MONDO_0016830"], "name": "autosomal dominant Emery-Dreifuss muscular dystrophy"} {"id": "MONDO_0020337", "parentIds": ["MONDO_0019403", "MONDO_0000577"], "name": "congenital dyserythropoietic anemia type 1"} -{"id": "MONDO_0020339", "parentIds": ["MONDO_0015150"], "name": "X-linked complex spastic paraplegia"} +{"id": "MONDO_0020338", "parentIds": ["MONDO_0020113", "MONDO_0001705"], "name": "adult pure red cell aplasia"} {"id": "MONDO_0020340", "parentIds": ["MONDO_0017091"], "name": "bilateral perisylvian polymicrogyria"} -{"id": "MONDO_0020341", "parentIds": ["EFO_0000508", "MONDO_0016292", "MONDO_0002320"], "name": "periventricular nodular heterotopia"} -{"id": "MONDO_0020343", "parentIds": ["MONDO_0002320", "MONDO_0016188", "MONDO_0018943"], "name": "alpha-crystallinopathy"} +{"id": "MONDO_0020341", "parentIds": ["MONDO_0016292", "MONDO_0100545", "MONDO_0002320"], "name": "periventricular nodular heterotopia"} {"id": "MONDO_0020344", "parentIds": ["MONDO_0002320", "MONDO_0018940"], "name": "postsynaptic congenital myasthenic syndrome"} -{"id": "MONDO_0020345", "parentIds": ["MONDO_0018940"], "name": "presynaptic congenital myasthenic syndrome"} -{"id": "MONDO_0020346", "parentIds": ["MONDO_0018940"], "name": "synaptic congenital myasthenic syndrome"} {"id": "MONDO_0020353", "parentIds": ["MONDO_0011414"], "name": "von Hippel anomaly"} {"id": "MONDO_0020354", "parentIds": ["MONDO_0007350"], "name": "coloboma of choroid and retina"} {"id": "MONDO_0020355", "parentIds": ["MONDO_0001476"], "name": "coloboma of eye lens"} {"id": "MONDO_0020356", "parentIds": ["MONDO_0007350"], "name": "coloboma of iris"} -{"id": "MONDO_0020357", "parentIds": ["MONDO_0020155", "MONDO_0001476"], "name": "coloboma of eyelid"} +{"id": "MONDO_0020357", "parentIds": ["MONDO_0001476"], "name": "coloboma of eyelid"} {"id": "MONDO_0020359", "parentIds": ["MONDO_0007410"], "name": "congenital symblepharon"} {"id": "MONDO_0020360", "parentIds": ["MONDO_0007410"], "name": "complete cryptophthalmia"} {"id": "MONDO_0020361", "parentIds": ["MONDO_0007410"], "name": "partial cryptophthalmia"} @@ -9257,21 +11056,20 @@ {"id": "MONDO_0020363", "parentIds": ["MONDO_0020212"], "name": "honey-droplet corneal dystrophy"} {"id": "MONDO_0020364", "parentIds": ["MONDO_0000766", "EFO_0000508", "MONDO_0020214"], "name": "posterior polymorphous corneal dystrophy"} {"id": "MONDO_0020365", "parentIds": ["MONDO_0020214"], "name": "congenital hereditary endothelial dystrophy type I"} -{"id": "MONDO_0020366", "parentIds": ["MONDO_0015485"], "name": "congenital glaucoma"} -{"id": "MONDO_0020367", "parentIds": ["EFO_0004190", "MONDO_0015485"], "name": "juvenile open angle glaucoma"} +{"id": "MONDO_0020366", "parentIds": ["MONDO_0018174"], "name": "congenital glaucoma"} +{"id": "MONDO_0020367", "parentIds": ["EFO_0004190", "MONDO_0018174"], "name": "juvenile open angle glaucoma"} {"id": "MONDO_0020368", "parentIds": ["EFO_0003966"], "name": "Axenfeld anomaly"} -{"id": "MONDO_0020369", "parentIds": ["MONDO_0018988"], "name": "Chandler syndrome"} +{"id": "MONDO_0020369", "parentIds": ["MONDO_0018988", "MONDO_0018102"], "name": "Chandler syndrome"} {"id": "MONDO_0020370", "parentIds": ["MONDO_0018988"], "name": "Cogan-Reese syndrome"} {"id": "MONDO_0020371", "parentIds": ["MONDO_0018988"], "name": "essential iris atrophy"} {"id": "MONDO_0020372", "parentIds": ["MONDO_0020379"], "name": "early-onset sutural cataract"} {"id": "MONDO_0020373", "parentIds": ["MONDO_0020377"], "name": "early-onset anterior polar cataract"} {"id": "MONDO_0020374", "parentIds": ["MONDO_0020377"], "name": "cerulean cataract"} -{"id": "MONDO_0020375", "parentIds": ["MONDO_0020377"], "name": "coralliform cataract"} {"id": "MONDO_0020376", "parentIds": ["MONDO_0020379"], "name": "early-onset nuclear cataract"} {"id": "MONDO_0020377", "parentIds": ["MONDO_0011060"], "name": "early-onset partial cataract"} {"id": "MONDO_0020378", "parentIds": ["MONDO_0013411"], "name": "early-onset posterior polar cataract"} {"id": "MONDO_0020379", "parentIds": ["MONDO_0020377"], "name": "early-onset zonular cataract"} -{"id": "MONDO_0020380", "parentIds": ["MONDO_0000426", "MONDO_0100310", "MONDO_0015547", "MONDO_0022687"], "name": "autosomal dominant cerebellar ataxia"} +{"id": "MONDO_0020380", "parentIds": ["MONDO_0024237", "MONDO_0015547", "MONDO_0022687", "MONDO_0100310", "MONDO_0000426"], "name": "autosomal dominant cerebellar ataxia"} {"id": "MONDO_0020381", "parentIds": ["MONDO_0018973", "EFO_0009606"], "name": "patterned macular dystrophy"} {"id": "MONDO_0020382", "parentIds": ["MONDO_0018973"], "name": "multifocal pattern dystrophy simulating fundus flavimaculatus"} {"id": "MONDO_0020383", "parentIds": ["MONDO_0018973"], "name": "fundus pulverulentus"} @@ -9282,8 +11080,10 @@ {"id": "MONDO_0020388", "parentIds": ["MONDO_0018089"], "name": "double outlet right ventricle with non-committed subpulmonary ventricular septal defect"} {"id": "MONDO_0020398", "parentIds": ["MONDO_0042966", "MONDO_0019817", "EFO_0007372"], "name": "congenital mitral stenosis"} {"id": "MONDO_0020404", "parentIds": ["MONDO_0019817"], "name": "shone complex"} -{"id": "MONDO_0020427", "parentIds": ["MONDO_0018771"], "name": "Laubry-Pezzi syndrome"} +{"id": "MONDO_0020417", "parentIds": ["MONDO_0015236"], "name": "right aortic arch"} +{"id": "MONDO_0020427", "parentIds": ["EFO_0005269"], "name": "Laubry-Pezzi syndrome"} {"id": "MONDO_0020428", "parentIds": ["EFO_0005269"], "name": "congenital Gerbode defect"} +{"id": "MONDO_0020429", "parentIds": ["MONDO_0015450"], "name": "cor triatriatum dexter"} {"id": "MONDO_0020434", "parentIds": ["EFO_1000825"], "name": "atrial septal defect, ostium secundum type"} {"id": "MONDO_0020435", "parentIds": ["EFO_1000825"], "name": "atrial septal defect, coronary sinus type"} {"id": "MONDO_0020436", "parentIds": ["EFO_1000825"], "name": "atrial septal defect, sinus venosus type"} @@ -9291,7 +11091,7 @@ {"id": "MONDO_0020457", "parentIds": ["MONDO_0004139"], "name": "6-phosphogluconate dehydrogenase deficiency"} {"id": "MONDO_0020458", "parentIds": ["EFO_0009529", "MONDO_0003689", "MONDO_0019236"], "name": "hemolytic anemia due to erythrocyte adenosine deaminase overproduction"} {"id": "MONDO_0020460", "parentIds": ["MONDO_0024574", "MONDO_0002243", "MONDO_0020599"], "name": "acquired von willebrand syndrome"} -{"id": "MONDO_0020461", "parentIds": ["MONDO_0020158"], "name": "epiblepharon"} +{"id": "MONDO_0020461", "parentIds": ["EFO_0009547"], "name": "epiblepharon"} {"id": "MONDO_0020462", "parentIds": ["MONDO_0020159"], "name": "tarsal kink syndrome"} {"id": "MONDO_0020463", "parentIds": ["MONDO_0020161"], "name": "isolated congenital ectropion"} {"id": "MONDO_0020464", "parentIds": ["MONDO_0020161"], "name": "euryblepharon"} @@ -9299,7 +11099,7 @@ {"id": "MONDO_0020466", "parentIds": ["MONDO_0020639", "MONDO_0700027", "MONDO_0019499"], "name": "monosomy X"} {"id": "MONDO_0020467", "parentIds": ["MONDO_0020466"], "name": "mosaic monosomy X"} {"id": "MONDO_0020468", "parentIds": ["MONDO_0700020", "MONDO_0700086"], "name": "paternal uniparental disomy of chromosome 13"} -{"id": "MONDO_0020469", "parentIds": ["MONDO_0015620", "MONDO_0030502", "MONDO_0700028"], "name": "48,XYYY syndrome"} +{"id": "MONDO_0020469", "parentIds": ["MONDO_0030502", "MONDO_0700028"], "name": "48,XYYY syndrome"} {"id": "MONDO_0020470", "parentIds": ["MONDO_0700085", "MONDO_0700028", "MONDO_0015161"], "name": "49,XYYYY syndrome"} {"id": "MONDO_0020472", "parentIds": ["MONDO_0019499"], "name": "Turner syndrome due to structural X chromosome anomalies"} {"id": "MONDO_0020473", "parentIds": ["MONDO_0019701"], "name": "dappled diaphyseal dysplasia"} @@ -9308,23 +11108,21 @@ {"id": "MONDO_0020476", "parentIds": ["MONDO_0017704"], "name": "mesial temporal lobe epilepsy with hippocampal sclerosis"} {"id": "MONDO_0020477", "parentIds": ["EFO_0005755"], "name": "progeria-associated arthropathy"} {"id": "MONDO_0020478", "parentIds": ["MONDO_0016387"], "name": "Leber plus disease"} -{"id": "MONDO_0020480", "parentIds": ["MONDO_0004689", "MONDO_0019358", "MONDO_0017760"], "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency"} +{"id": "MONDO_0020480", "parentIds": ["MONDO_0004689", "MONDO_0019358"], "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency"} {"id": "MONDO_0020481", "parentIds": ["MONDO_0018959"], "name": "myotonia fluctuans"} {"id": "MONDO_0020482", "parentIds": ["MONDO_0018959"], "name": "myotonia permanens"} {"id": "MONDO_0020483", "parentIds": ["MONDO_0018959"], "name": "acetazolamide-responsive myotonia"} -{"id": "MONDO_0020485", "parentIds": ["MONDO_0100150", "MONDO_0002320", "MONDO_0015160"], "name": "King-Denborough syndrome"} +{"id": "MONDO_0020485", "parentIds": ["MONDO_0100150", "MONDO_0100545", "MONDO_0002320", "MONDO_0015160"], "name": "King-Denborough syndrome"} {"id": "MONDO_0020488", "parentIds": ["MONDO_0019037"], "name": "atypical progressive supranuclear palsy syndrome"} -{"id": "MONDO_0020489", "parentIds": ["MONDO_0018541"], "name": "familial hyperreninemic hypoaldosteronism type 1"} {"id": "MONDO_0020490", "parentIds": ["MONDO_0700065", "MONDO_0700016"], "name": "mosaic trisomy 9"} {"id": "MONDO_0020491", "parentIds": ["MONDO_0002320"], "name": "subcortical band heterotopia"} -{"id": "MONDO_0020492", "parentIds": ["MONDO_0100283", "MONDO_0016054"], "name": "hemimegalencephaly"} +{"id": "MONDO_0020492", "parentIds": ["MONDO_0100283"], "name": "hemimegalencephaly"} {"id": "MONDO_0020493", "parentIds": ["MONDO_0021189"], "name": "Haddad syndrome"} {"id": "MONDO_0020494", "parentIds": ["MONDO_0016910"], "name": "oculootodental syndrome"} -{"id": "MONDO_0020496", "parentIds": ["MONDO_0957008", "MONDO_0018788", "MONDO_0017410"], "name": "familial porencephaly"} -{"id": "MONDO_0020497", "parentIds": ["MONDO_0016756", "MONDO_0021248", "MONDO_0021055"], "name": "Turcot syndrome with polyposis"} +{"id": "MONDO_0020496", "parentIds": ["MONDO_0100545", "MONDO_0017410", "EFO_0003763"], "name": "familial porencephaly"} +{"id": "MONDO_0020497", "parentIds": ["MONDO_0021055"], "name": "Turcot syndrome with polyposis"} {"id": "MONDO_0020504", "parentIds": ["MONDO_0019052"], "name": "hereditary recurrent myoglobinuria"} {"id": "MONDO_0020505", "parentIds": ["MONDO_0019046"], "name": "ravine syndrome"} -{"id": "MONDO_0020506", "parentIds": ["MONDO_0800448"], "name": "ovarioleukodystrophy"} {"id": "MONDO_0020507", "parentIds": ["MONDO_0800448"], "name": "leukoencephalopathy with 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"MONDO_0020971", "parentIds": ["EFO_0003878", "DOID_7551"], "name": "gonococcal urethritis"} +{"id": "MONDO_0021002", "parentIds": ["EFO_0002461", "EFO_0000508"], "name": "syndactyly"} +{"id": "MONDO_0021003", "parentIds": ["EFO_0000508", "EFO_0002461"], "name": "polydactyly"} +{"id": "MONDO_0021004", "parentIds": ["EFO_0000508", "EFO_0002461"], "name": "brachydactyly"} +{"id": "MONDO_0021005", "parentIds": ["OTAR_0000018"], "name": "faciodigitogenital syndrome"} {"id": "MONDO_0021009", "parentIds": ["MONDO_0044964", "MONDO_0000521"], "name": "salivary gland mucoepidermoid carcinoma"} {"id": "MONDO_0021018", "parentIds": ["MONDO_0015151"], "name": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)"} -{"id": "MONDO_0021019", "parentIds": ["MONDO_0020605", "MONDO_0017304"], "name": "X-linked recessive ocular albinism"} +{"id": "MONDO_0021019", "parentIds": ["MONDO_0700230", "MONDO_0020605", "MONDO_0043209", "MONDO_0017304"], "name": "X-linked recessive ocular albinism"} {"id": "MONDO_0021020", "parentIds": ["MONDO_0009044"], "name": "Crigler-Najjar syndrome type 1"} -{"id": "MONDO_0021022", "parentIds": ["MONDO_0017658", "MONDO_0019253"], "name": "hereditary hyperekplexia"} +{"id": "MONDO_0021022", "parentIds": ["MONDO_0017658", "MONDO_0100545", "MONDO_0019253"], "name": "hereditary hyperekplexia"} {"id": "MONDO_0021023", "parentIds": ["MONDO_0019154"], "name": "complete androgen insensitivity syndrome"} -{"id": "MONDO_0021026", "parentIds": ["MONDO_0100118", "MONDO_0019277"], "name": "hereditary epidermal appendage anomaly"} -{"id": "MONDO_0021029", "parentIds": ["MONDO_0021026", "MONDO_0019286"], "name": "hereditary sebaceous gland anomaly"} -{"id": "MONDO_0021034", "parentIds": ["MONDO_0021026", "MONDO_0004907"], "name": "hereditary alopecia"} +{"id": "MONDO_0021026", "parentIds": ["EFO_0000701"], "name": "hereditary epidermal appendage anomaly"} +{"id": "MONDO_0021029", "parentIds": ["MONDO_0021026"], "name": "hereditary sebaceous gland anomaly"} +{"id": "MONDO_0021032", "parentIds": ["MONDO_0021033", "EFO_0009547", "MONDO_0020950"], "name": "herpes zoster with dermatitis of eyelid"} +{"id": "MONDO_0021033", "parentIds": ["MONDO_0021201", "EFO_0006509"], "name": "herpes zoster dermatitis"} {"id": "MONDO_0021036", "parentIds": ["EFO_0000701"], "name": "keratosis pilaris"} {"id": "MONDO_0021038", "parentIds": ["EFO_0005784"], "name": "Ewing sarcoma/peripheral primitive neuroectodermal tumor"} {"id": "MONDO_0021041", "parentIds": ["MONDO_0016238", "MONDO_0021065"], "name": "pleural solitary fibrous tumor"} {"id": "MONDO_0021043", "parentIds": ["EFO_0000616"], "name": "mixed neoplasm"} {"id": "MONDO_0021046", "parentIds": ["EFO_0003869", "EFO_0007271"], "name": "breast fibroepithelial neoplasm"} {"id": "MONDO_0021047", "parentIds": ["EFO_0000653", "MONDO_0021046"], "name": "breast phyllodes tumor"} +{"id": "MONDO_0021048", "parentIds": ["EFO_0002422", "MONDO_0003079"], "name": "benign mastocytoma"} {"id": "MONDO_0021049", "parentIds": ["MONDO_0002187", "MONDO_0021148"], "name": "vulvar neoplasm"} {"id": "MONDO_0021052", "parentIds": ["MONDO_0044995", "EFO_1000453"], "name": "parasympathetic paraganglioma"} {"id": "MONDO_0021053", "parentIds": ["MONDO_0043218", "EFO_1000288", "MONDO_0000473", "MONDO_0021080", "MONDO_0021052"], "name": "carotid body paraganglioma"} {"id": "MONDO_0021054", "parentIds": ["EFO_0000691", "EFO_1000350"], "name": "bone sarcoma"} {"id": "MONDO_0021055", "parentIds": ["MONDO_0021057"], "name": "classic familial adenomatous polyposis"} {"id": "MONDO_0021056", "parentIds": ["MONDO_0016362", "MONDO_0021055"], "name": "familial adenomatous polyposis 1"} -{"id": "MONDO_0021057", "parentIds": ["MONDO_0015185", "MONDO_0017128", "MONDO_0018188", "MONDO_0021118"], "name": "classic or attenuated familial adenomatous polyposis"} +{"id": "MONDO_0021057", "parentIds": ["MONDO_0015185"], "name": "classic or attenuated familial adenomatous polyposis"} {"id": "MONDO_0021058", "parentIds": ["MONDO_0023370"], "name": "neoplastic syndrome"} -{"id": "MONDO_0021063", "parentIds": ["MONDO_0005575", "EFO_0004288"], "name": "malignant colon neoplasm"} +{"id": "MONDO_0021063", "parentIds": ["EFO_0004288", "MONDO_0005575"], "name": "malignant colon neoplasm"} {"id": "MONDO_0021064", "parentIds": ["MONDO_0023603", "MONDO_0002785", "EFO_1000288", "MONDO_0021052"], "name": "jugulotympanic paraganglioma"} {"id": "MONDO_0021065", "parentIds": ["MONDO_0002037", "EFO_0003853"], "name": "pleural neoplasm"} {"id": "MONDO_0021066", "parentIds": ["EFO_0009690", "EFO_0000616"], "name": "urinary system neoplasm"} {"id": "MONDO_0021067", "parentIds": ["MONDO_0018201", "MONDO_0021386"], "name": "mediastinal germ cell tumor"} {"id": "MONDO_0021069", "parentIds": ["EFO_0003769", "MONDO_0004992"], "name": "malignant endocrine neoplasm"} +{"id": "MONDO_0021070", "parentIds": ["EFO_1000344", "MONDO_0004667"], "name": "sublingual gland carcinoma"} {"id": "MONDO_0021072", "parentIds": ["MONDO_0044993", "EFO_1000453", "EFO_0006858"], "name": "sympathetic paraganglioma"} {"id": "MONDO_0021074", "parentIds": ["MONDO_0045024"], "name": "precancerous condition"} {"id": "MONDO_0021075", "parentIds": ["MONDO_0021074", "EFO_0000662"], "name": "neoplastic polyp"} @@ -9465,6 +11321,7 @@ {"id": "MONDO_0021078", "parentIds": ["MONDO_0024276", "MONDO_0002363"], "name": "glandular papilloma"} {"id": "MONDO_0021079", "parentIds": ["EFO_0000616"], "name": "childhood neoplasm"} {"id": "MONDO_0021080", "parentIds": ["EFO_0004264", "MONDO_0024296"], "name": "blood vessel neoplasm"} +{"id": "MONDO_0021081", "parentIds": ["MONDO_0019956", "MONDO_0100029"], "name": "anti-NMDA receptor encephalitis"} {"id": "MONDO_0021084", "parentIds": ["MONDO_0024458", "MONDO_0024417"], "name": "vision disorder"} {"id": "MONDO_0021086", "parentIds": ["EFO_0009670", "MONDO_0021192"], "name": "gingival neoplasm"} {"id": "MONDO_0021089", "parentIds": ["EFO_0007392", "EFO_0002431"], "name": "peripheral nervous system cancer"} @@ -9473,11 +11330,15 @@ {"id": "MONDO_0021094", "parentIds": ["EFO_0000508", "EFO_0000540"], "name": "immunodeficiency disease"} {"id": "MONDO_0021095", "parentIds": ["EFO_0009533"], "name": "parkinsonian disorder"} {"id": "MONDO_0021096", "parentIds": ["EFO_0006858"], "name": "papillary epithelial neoplasm"} +{"id": "MONDO_0021097", "parentIds": ["MONDO_0002061", "MONDO_0000620", "MONDO_0002060"], "name": "intraductal breast papilloma"} +{"id": "MONDO_0021102", "parentIds": ["MONDO_0021066", "EFO_0000653", "MONDO_0021259"], "name": "prostate phyllodes tumor"} +{"id": "MONDO_0021104", "parentIds": ["MONDO_0004790", "EFO_0008573"], "name": "alcoholic fatty liver disease"} {"id": "MONDO_0021106", "parentIds": ["EFO_0000508"], "name": "laminopathy"} -{"id": "MONDO_0021107", "parentIds": ["EFO_0000508", "MONDO_0003406"], "name": "narcolepsy"} +{"id": "MONDO_0021107", "parentIds": ["MONDO_0003406"], "name": "narcolepsy"} {"id": "MONDO_0021108", "parentIds": ["EFO_0001423"], "name": "meningitis"} {"id": "MONDO_0021109", "parentIds": ["MONDO_0003064", "MONDO_0004041"], "name": "inverted urothelial papilloma"} {"id": "MONDO_0021110", "parentIds": ["EFO_1001204", "MONDO_0021634", "EFO_0000232"], "name": "sweat gland adenoma"} +{"id": "MONDO_0021112", "parentIds": ["EFO_0007355", "MONDO_0003319"], "name": "scrotum cancer"} {"id": "MONDO_0021114", "parentIds": ["MONDO_0021049", "EFO_0010285"], "name": "Bartholin gland neoplasm"} {"id": "MONDO_0021115", "parentIds": ["EFO_0000306"], "name": "luminal B breast carcinoma"} {"id": "MONDO_0021116", "parentIds": ["EFO_0000306"], "name": "luminal A breast carcinoma"} @@ -9487,6 +11348,7 @@ {"id": "MONDO_0021120", "parentIds": ["EFO_0003769"], "name": "functioning endocrine neoplasm"} {"id": "MONDO_0021121", "parentIds": ["MONDO_0021080"], "name": "hemangioendothelioma"} {"id": "MONDO_0021123", "parentIds": ["EFO_0003820", "MONDO_0021038"], "name": "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone"} +{"id": "MONDO_0021131", "parentIds": ["MONDO_0004245", "MONDO_0001421", "MONDO_0002731"], "name": "frontal lobe ependymal tumor"} {"id": "MONDO_0021133", "parentIds": ["MONDO_0002241", "MONDO_0020599"], "name": "acquired factor XIII deficiency"} {"id": "MONDO_0021134", "parentIds": ["MONDO_0002247", "MONDO_0020599"], "name": "acquired factor X deficiency"} {"id": "MONDO_0021138", "parentIds": ["EFO_1000350", "MONDO_0000621", "MONDO_0005374"], "name": "bone marrow cancer"} @@ -9496,9 +11358,16 @@ {"id": "MONDO_0021148", "parentIds": ["EFO_1000051", "EFO_0009549"], "name": "female reproductive system neoplasm"} {"id": "MONDO_0021154", "parentIds": ["EFO_0000701"], "name": "dermis disorder"} {"id": "MONDO_0021155", "parentIds": ["MONDO_0015993", "MONDO_0000425"], "name": "X-linked cone-rod dystrophy"} +{"id": "MONDO_0021156", "parentIds": ["EFO_0001423", "EFO_0009607"], "name": "hypophysitis"} +{"id": "MONDO_0021157", "parentIds": ["MONDO_0002345", "DOID_7551"], "name": "gonococcal cervicitis"} +{"id": "MONDO_0021159", "parentIds": ["MONDO_0003619", "DOID_7551"], "name": "gonococcal salpingitis"} +{"id": "MONDO_0021160", "parentIds": ["EFO_1000025", "MONDO_0005247", "DOID_7551"], "name": "gonococcal cystitis"} +{"id": "MONDO_0021161", "parentIds": ["EFO_0003830", "DOID_7551"], "name": "gonococcal prostatitis"} {"id": "MONDO_0021164", "parentIds": ["MONDO_0002036"], "name": "posthitis"} {"id": "MONDO_0021165", "parentIds": ["EFO_0000228"], "name": "Paget disease"} {"id": "MONDO_0021169", "parentIds": ["EFO_1000635"], "name": "epithelioid hemangioma"} +{"id": "MONDO_0021171", "parentIds": ["MONDO_0010979"], "name": "Timothy syndrome, classic type"} +{"id": "MONDO_0021175", "parentIds": ["EFO_1001240", "EFO_0006509", "MONDO_0023557"], "name": "herpetic vulvovaginitis"} {"id": "MONDO_0021179", "parentIds": ["EFO_0000589"], "name": "proteostasis deficiencies"} {"id": "MONDO_0021180", "parentIds": ["EFO_1000639", "MONDO_0000721"], "name": "acquired xanthinuria"} {"id": "MONDO_0021181", "parentIds": ["EFO_0009314", "EFO_0000508"], "name": "inherited blood coagulation disorder"} @@ -9507,18 +11376,22 @@ {"id": "MONDO_0021192", "parentIds": ["EFO_0008549", "EFO_0005950", "EFO_1001216"], "name": "odontogenic neoplasm"} {"id": "MONDO_0021193", "parentIds": ["MONDO_0021248"], "name": "neuroepithelial neoplasm"} {"id": "MONDO_0021201", "parentIds": ["MONDO_0002406", "MONDO_0024294"], "name": "skin infection"} +{"id": "MONDO_0021202", "parentIds": ["EFO_0004992", "MONDO_0005271"], "name": "allergic otitis media"} {"id": "MONDO_0021204", "parentIds": ["EFO_0004992"], "name": "chronic otitis media"} {"id": "MONDO_0021205", "parentIds": [], "name": "disorder of ear"} {"id": "MONDO_0021206", "parentIds": ["MONDO_0001212", "MONDO_0021204"], "name": "chronic non-suppurative otitis media"} +{"id": "MONDO_0021207", "parentIds": ["EFO_0005629"], "name": "Crohn jejunitis"} {"id": "MONDO_0021208", "parentIds": ["MONDO_0004907"], "name": "endocrine alopecia"} {"id": "MONDO_0021218", "parentIds": ["EFO_0003859", "EFO_0007441"], "name": "placenta neoplasm"} -{"id": "MONDO_0021222", "parentIds": ["EFO_0003824", "MONDO_0024625"], "name": "lacrimal gland neoplasm"} +{"id": "MONDO_0021221", "parentIds": ["MONDO_0002633", "MONDO_0001563"], "name": "vestibulocochlear nerve neoplasm"} +{"id": "MONDO_0021222", "parentIds": ["EFO_0003824", "MONDO_0024625", "EFO_1000934"], "name": "lacrimal gland neoplasm"} {"id": "MONDO_0021224", "parentIds": ["MONDO_0021225", "MONDO_0002289"], "name": "iris neoplasm"} {"id": "MONDO_0021225", "parentIds": ["EFO_0003824", "MONDO_0002661"], "name": "uvea neoplasm"} {"id": "MONDO_0021229", "parentIds": ["MONDO_0021224", "MONDO_0002970"], "name": "ciliary body neoplasm"} {"id": "MONDO_0021230", "parentIds": ["EFO_0003859", "MONDO_0002256"], "name": "uterine cervix neoplasm"} {"id": "MONDO_0021232", "parentIds": ["MONDO_0100070", "EFO_0003833", "EFO_0003769", "MONDO_0003081"], "name": "pineal body neoplasm"} {"id": "MONDO_0021233", "parentIds": ["MONDO_0021205", "EFO_0005950"], "name": "ear neoplasm"} +{"id": "MONDO_0021235", "parentIds": ["EFO_0009668", "MONDO_0021233", "MONDO_0021248"], "name": "external ear neoplasm"} {"id": "MONDO_0021237", "parentIds": ["EFO_0003850"], "name": "adrenal medulla neoplasm"} {"id": "MONDO_0021238", "parentIds": ["EFO_0003824", "EFO_0009464"], "name": "cornea neoplasm"} {"id": "MONDO_0021246", "parentIds": ["EFO_0008549"], "name": "pharynx neoplasm"} @@ -9530,23 +11403,40 @@ {"id": "MONDO_0021258", "parentIds": ["MONDO_0024296", "MONDO_0001898", "MONDO_0021225"], "name": "choroid neoplasm"} {"id": "MONDO_0021259", "parentIds": ["EFO_1000051", "EFO_0009602"], "name": "prostate neoplasm"} {"id": "MONDO_0021271", "parentIds": ["MONDO_0000527", "MONDO_0000502"], "name": "villous adenoma of colon"} -{"id": "MONDO_0021272", "parentIds": ["MONDO_0015914", "EFO_0000508"], "name": "inherited orthostatic hypotension"} +{"id": "MONDO_0021272", "parentIds": ["MONDO_0015914", "MONDO_0100545"], "name": "inherited orthostatic hypotension"} +{"id": "MONDO_0021273", "parentIds": ["MONDO_0021486", "MONDO_0001572"], "name": "leiomyoma of ciliary body"} +{"id": "MONDO_0021275", "parentIds": ["MONDO_0021605", "MONDO_0002536"], "name": "papilloma of eyelid"} {"id": "MONDO_0021279", "parentIds": ["MONDO_0004724", "EFO_1000346"], "name": "mucoepidermoid carcinoma of submandibular gland"} {"id": "MONDO_0021280", "parentIds": ["EFO_1000460", "EFO_1000346"], "name": "mucoepidermoid carcinoma of parotid gland"} +{"id": "MONDO_0021281", "parentIds": ["EFO_1000152", "MONDO_0021541"], "name": "cavernous hemangioma of retina"} +{"id": "MONDO_0021282", "parentIds": ["MONDO_0003514", "MONDO_0003510"], "name": "malignant teratoma of testis"} +{"id": "MONDO_0021283", "parentIds": ["MONDO_0003518", "MONDO_0003514", "MONDO_0003578", "EFO_1000366"], "name": "malignant teratoma of mediastinum"} +{"id": "MONDO_0021284", "parentIds": ["MONDO_0004647", "EFO_1000609", "MONDO_0004732"], "name": "carcinoma in situ of ureter"} +{"id": "MONDO_0021285", "parentIds": ["MONDO_0004647", "MONDO_0021327"], "name": "carcinoma in situ of urethra"} +{"id": "MONDO_0021288", "parentIds": ["EFO_0002938", "MONDO_0000372"], "name": "carcinoma in situ of hypopharynx"} {"id": "MONDO_0021289", "parentIds": ["EFO_1000021", "MONDO_0004663"], "name": "carcinoma in situ of cecum"} +{"id": "MONDO_0021290", "parentIds": ["MONDO_0003196", "MONDO_0021289"], "name": "carcinoma in situ of appendix"} +{"id": "MONDO_0021294", "parentIds": ["MONDO_0004716", "EFO_1001252"], "name": "carcinoma in situ of gastric cardia"} +{"id": "MONDO_0021296", "parentIds": ["MONDO_0004732", "EFO_0005582"], "name": "carcinoma in situ of renal pelvis"} +{"id": "MONDO_0021297", "parentIds": ["MONDO_0015459", "MONDO_0000372"], "name": "carcinoma in situ of nasopharynx"} +{"id": "MONDO_0021298", "parentIds": ["MONDO_0000372", "MONDO_0044926"], "name": "carcinoma in situ of oropharynx"} +{"id": "MONDO_0021299", "parentIds": ["MONDO_0003090", "MONDO_0000374"], "name": "carcinoma in situ of extrahepatic bile duct"} {"id": "MONDO_0021300", "parentIds": ["MONDO_0044926", "EFO_0000231"], "name": "adenoid cystic carcinoma of oropharynx"} -{"id": "MONDO_0021301", "parentIds": ["MONDO_0000652", "MONDO_0002058", "MONDO_0002482"], "name": "adenoma of nipple"} +{"id": "MONDO_0021301", "parentIds": ["MONDO_0002058", "MONDO_0002482"], "name": "adenoma of nipple"} {"id": "MONDO_0021303", "parentIds": ["MONDO_0004251", "EFO_1000217"], "name": "adenoma of small intestine"} {"id": "MONDO_0021309", "parentIds": ["MONDO_0002974"], "name": "malignant neoplasm of endocervix"} {"id": "MONDO_0021310", "parentIds": ["EFO_0006859", "MONDO_0021351"], "name": "malignant tumor of neck"} {"id": "MONDO_0021311", "parentIds": ["MONDO_0021360", "MONDO_0021069"], "name": "malignant tumor of parathyroid gland"} {"id": "MONDO_0021312", "parentIds": ["MONDO_0036591", "MONDO_0002817"], "name": "malignant tumor of adrenal cortex"} {"id": "MONDO_0021313", "parentIds": ["MONDO_0002898", "MONDO_0002236", "EFO_1000934"], "name": "eyelid cancer"} +{"id": "MONDO_0021315", "parentIds": ["EFO_0005577", "EFO_0004252"], "name": "malignant tumor of nasopharynx"} {"id": "MONDO_0021316", "parentIds": ["MONDO_0021370", "MONDO_0004727", "MONDO_0004669"], "name": "malignant tumor of minor salivary gland"} +{"id": "MONDO_0021317", "parentIds": ["MONDO_0002913", "MONDO_0001657"], "name": "cancer of cerebellum"} {"id": "MONDO_0021320", "parentIds": ["EFO_0006859", "MONDO_0021383", "MONDO_0002516"], "name": "malignant tumor of floor of mouth"} {"id": "MONDO_0021321", "parentIds": ["MONDO_0003059", "MONDO_0021385"], "name": "malignant tumor of extrahepatic bile duct"} {"id": "MONDO_0021322", "parentIds": ["EFO_0003851", "EFO_0000326"], "name": "malignant tumor of meninges"} {"id": "MONDO_0021327", "parentIds": ["MONDO_0004192", "EFO_0000313"], "name": "carcinoma of urethra"} +{"id": "MONDO_0021333", "parentIds": ["MONDO_0044925", "EFO_1001019"], "name": "carcinoma of lip"} {"id": "MONDO_0021334", "parentIds": ["EFO_0000540"], "name": "immunoproliferative disorder"} {"id": "MONDO_0021335", "parentIds": ["MONDO_0000920", "EFO_0005588"], "name": "carcinoma of duodenum"} {"id": "MONDO_0021337", "parentIds": ["EFO_1001214", "MONDO_0044926"], "name": "tonsil carcinoma"} @@ -9561,58 +11451,132 @@ {"id": "MONDO_0021358", "parentIds": ["MONDO_0020592", "MONDO_0021246", "EFO_0005950"], "name": "neoplasm of hypopharynx"} {"id": "MONDO_0021360", "parentIds": ["EFO_0005754", "EFO_0003769"], "name": "tumor of parathyroid gland"} {"id": "MONDO_0021364", "parentIds": ["MONDO_0021246", "EFO_0010282", "EFO_0005950", "MONDO_0020592"], "name": "neoplasm of oropharynx"} -{"id": "MONDO_0021366", "parentIds": ["MONDO_0021233", "MONDO_0003276"], "name": "neoplasm of middle ear"} +{"id": "MONDO_0021366", "parentIds": ["MONDO_0021233", "MONDO_0003276", "MONDO_0021248"], "name": "neoplasm of middle ear"} {"id": "MONDO_0021368", "parentIds": ["EFO_1000384"], "name": "neoplasm of major salivary gland"} {"id": "MONDO_0021370", "parentIds": ["MONDO_0044992", "EFO_1000384"], "name": "neoplasm of minor salivary gland"} +{"id": "MONDO_0021372", "parentIds": ["MONDO_0021374"], "name": "neoplasm of temporal lobe"} {"id": "MONDO_0021374", "parentIds": ["EFO_0003833"], "name": "neoplasm of cerebral hemisphere"} {"id": "MONDO_0021375", "parentIds": ["MONDO_0004251", "MONDO_0002866"], "name": "tumor of duodenum"} +{"id": "MONDO_0021378", "parentIds": ["EFO_1001339", "MONDO_0000470"], "name": "neoplasm of endocardium"} +{"id": "MONDO_0021379", "parentIds": ["EFO_1001339", "MONDO_0021381"], "name": "neoplasm of epicardium"} +{"id": "MONDO_0021380", "parentIds": ["EFO_1001339", "MONDO_0024643"], "name": "neoplasm of myocardium"} {"id": "MONDO_0021381", "parentIds": ["MONDO_0024757", "MONDO_0000474", "MONDO_0021350"], "name": "neoplasm of pericardium"} {"id": "MONDO_0021383", "parentIds": ["EFO_1001047", "EFO_0005950", "EFO_0008549"], "name": "neoplasm of floor of mouth"} {"id": "MONDO_0021385", "parentIds": ["MONDO_0021662"], "name": "extrahepatic bile duct neoplasm"} {"id": "MONDO_0021386", "parentIds": ["MONDO_0021350"], "name": "neoplasm of mediastinum"} +{"id": "MONDO_0021390", "parentIds": ["EFO_0003844", "EFO_0000662"], "name": "polyp of ureter"} {"id": "MONDO_0021392", "parentIds": ["EFO_0000662", "MONDO_0024634"], "name": "polyp of large intestine"} +{"id": "MONDO_0021394", "parentIds": ["EFO_0000662", "MONDO_0001433"], "name": "polyp of vagina"} {"id": "MONDO_0021396", "parentIds": ["EFO_0009549", "EFO_0000662"], "name": "polyp of vulva"} {"id": "MONDO_0021398", "parentIds": ["MONDO_0021392", "EFO_0009685"], "name": "polyp of rectum"} {"id": "MONDO_0021400", "parentIds": ["MONDO_0003409", "MONDO_0021392"], "name": "polyp of colon"} +{"id": "MONDO_0021412", "parentIds": ["EFO_0000662", "EFO_0009481", "EFO_1001047", "MONDO_0023369"], "name": "polyp of maxillary sinus"} {"id": "MONDO_0021416", "parentIds": ["EFO_0003832", "EFO_0000662"], "name": "polyp of gallbladder"} +{"id": "MONDO_0021418", "parentIds": ["EFO_0009481", "EFO_0000662"], "name": "polyp of ethmoidal sinus"} +{"id": "MONDO_0021424", "parentIds": ["EFO_0004198", "MONDO_0005094"], "name": "hemangiopericytoma of skin"} +{"id": "MONDO_0021427", "parentIds": ["EFO_0000199", "MONDO_0021333"], "name": "squamous cell carcinoma of lip"} +{"id": "MONDO_0021429", "parentIds": ["EFO_0000199", "MONDO_0021343"], "name": "squamous cell carcinoma of floor of mouth"} +{"id": "MONDO_0021437", "parentIds": ["EFO_0000759", "MONDO_0021449"], "name": "lipoma of stomach"} {"id": "MONDO_0021439", "parentIds": ["EFO_1000107", "MONDO_0017611", "MONDO_0000627", "MONDO_0000631"], "name": "benign neoplasm of pituitary gland"} {"id": "MONDO_0021440", "parentIds": ["EFO_0004198", "MONDO_0000652"], "name": "benign neoplasm of skin"} +{"id": "MONDO_0021441", "parentIds": ["MONDO_0021076", "MONDO_0021470"], "name": "benign neoplasm of exocrine pancreas"} +{"id": "MONDO_0021443", "parentIds": ["MONDO_0024339", "MONDO_0000630"], "name": "benign neoplasm of lymph node"} {"id": "MONDO_0021444", "parentIds": ["MONDO_0003062", "MONDO_0024634"], "name": "benign neoplasm of large intestine"} -{"id": "MONDO_0021445", "parentIds": ["EFO_0002422", "EFO_0003868"], "name": "benign neoplasm of oral cavity"} +{"id": "MONDO_0021445", "parentIds": ["EFO_0003868", "MONDO_0000385"], "name": "benign neoplasm of oral cavity"} +{"id": "MONDO_0021447", "parentIds": ["MONDO_0000625", "MONDO_0021348"], "name": "benign neoplasm of testis"} {"id": "MONDO_0021449", "parentIds": ["MONDO_0000385", "EFO_0003897"], "name": "benign neoplasm of stomach"} {"id": "MONDO_0021450", "parentIds": ["MONDO_0000629", "MONDO_0000634", "EFO_1001339"], "name": "benign neoplasm of heart"} {"id": "MONDO_0021452", "parentIds": ["MONDO_0021454", "MONDO_0021238"], "name": "benign neoplasm of cornea"} +{"id": "MONDO_0021453", "parentIds": ["EFO_1000509", "MONDO_0021454"], "name": "benign neoplasm of retina"} {"id": "MONDO_0021454", "parentIds": ["MONDO_0000633", "EFO_0003824"], "name": "benign neoplasm of eye"} -{"id": "MONDO_0021460", "parentIds": ["EFO_1000384", "EFO_0002422"], "name": "benign neoplasm of salivary gland"} +{"id": "MONDO_0021455", "parentIds": ["MONDO_0021351", "EFO_0002422"], "name": "benign neoplasm of neck"} +{"id": "MONDO_0021457", "parentIds": ["MONDO_0021065", "MONDO_0000382"], "name": "benign neoplasm of pleura"} +{"id": "MONDO_0021458", "parentIds": ["EFO_1001094", "MONDO_0000625"], "name": "benign neoplasm of penis"} +{"id": "MONDO_0021459", "parentIds": ["MONDO_0000385", "MONDO_0000634", "MONDO_0021355"], "name": "benign neoplasm of esophagus"} +{"id": "MONDO_0021460", "parentIds": ["EFO_1000384", "MONDO_0000385"], "name": "benign neoplasm of salivary gland"} +{"id": "MONDO_0021461", "parentIds": ["MONDO_0021358", "MONDO_0021523", "MONDO_0000382"], "name": "benign neoplasm of hypopharynx"} {"id": "MONDO_0021462", "parentIds": ["MONDO_0021444", "MONDO_0002165"], "name": "benign neoplasm of rectum"} {"id": "MONDO_0021463", "parentIds": ["MONDO_0000627", "MONDO_0021360"], "name": "benign neoplasm of parathyroid gland"} +{"id": "MONDO_0021464", "parentIds": ["MONDO_0002278", "EFO_0009255"], "name": "benign neoplasm of cecum"} +{"id": "MONDO_0021465", "parentIds": ["EFO_0003880", "MONDO_0021464"], "name": "benign neoplasm of appendix"} +{"id": "MONDO_0021467", "parentIds": ["MONDO_0002513", "MONDO_0003719"], "name": "benign neoplasm of renal pelvis"} {"id": "MONDO_0021468", "parentIds": ["MONDO_0021511", "MONDO_0021237"], "name": "benign neoplasm of adrenal medulla"} {"id": "MONDO_0021469", "parentIds": ["MONDO_0021462", "EFO_0003835"], "name": "benign neoplasm of anus"} {"id": "MONDO_0021470", "parentIds": ["MONDO_0000385", "EFO_0003860"], "name": "benign neoplasm of pancreas"} +{"id": "MONDO_0021471", "parentIds": ["MONDO_0000632", "MONDO_0021251"], "name": "benign neoplasm of endometrium"} +{"id": "MONDO_0021472", "parentIds": ["MONDO_0003319", "MONDO_0000625"], "name": "benign neoplasm of scrotum"} {"id": "MONDO_0021474", "parentIds": ["MONDO_0000633", "MONDO_0021233"], "name": "benign neoplasm of ear"} -{"id": "MONDO_0021476", "parentIds": ["MONDO_0000633", "EFO_0003871"], "name": "benign neoplasm of tongue"} +{"id": "MONDO_0021475", "parentIds": ["MONDO_0000633", "MONDO_0000382", "MONDO_0004756"], "name": "benign neoplasm of nasal cavity"} +{"id": "MONDO_0021476", "parentIds": ["MONDO_0000633", "EFO_0003871", "MONDO_0000385"], "name": "benign neoplasm of tongue"} +{"id": "MONDO_0021478", "parentIds": ["MONDO_0021523", "MONDO_0000382", "EFO_0004252"], "name": "benign neoplasm of nasopharynx"} +{"id": "MONDO_0021479", "parentIds": ["MONDO_0000385", "MONDO_0000382", "MONDO_0021523", "MONDO_0021364"], "name": "benign neoplasm of oropharynx"} +{"id": "MONDO_0021481", "parentIds": ["EFO_1001853", "MONDO_0021492"], "name": "benign neoplasm of submandibular gland"} +{"id": "MONDO_0021482", "parentIds": ["MONDO_0021366", "MONDO_0021474"], "name": "benign neoplasm of middle ear"} +{"id": "MONDO_0021484", "parentIds": ["EFO_1001035", "MONDO_0000382", "MONDO_0000385", "MONDO_0000633", "MONDO_0000631"], "name": "benign neoplasm of maxillary sinus"} +{"id": "MONDO_0021485", "parentIds": ["MONDO_0021454", "MONDO_0021224"], "name": "benign neoplasm of iris"} +{"id": "MONDO_0021486", "parentIds": ["MONDO_0021485", "MONDO_0021229"], "name": "benign neoplasm of ciliary body"} {"id": "MONDO_0021487", "parentIds": ["MONDO_0000629", "MONDO_0021258", "MONDO_0043218", "MONDO_0021454"], "name": "benign neoplasm of choroid"} +{"id": "MONDO_0021488", "parentIds": ["MONDO_0021454", "MONDO_0021222", "MONDO_0021605"], "name": "benign neoplasm of lacrimal gland"} {"id": "MONDO_0021489", "parentIds": ["MONDO_0021440", "EFO_1001204"], "name": "benign neoplasm of sweat gland"} -{"id": "MONDO_0021496", "parentIds": ["EFO_0002422", "MONDO_0021249"], "name": "benign neoplasm of lip"} +{"id": "MONDO_0021490", "parentIds": ["MONDO_0021440", "EFO_1001172"], "name": "benign neoplasm of sebaceous gland"} +{"id": "MONDO_0021491", "parentIds": ["MONDO_0000636", "MONDO_0000385", "MONDO_0021086"], "name": "benign neoplasm of gum"} +{"id": "MONDO_0021492", "parentIds": ["MONDO_0021368", "MONDO_0021460"], "name": "benign neoplasm of major salivary gland"} +{"id": "MONDO_0021493", "parentIds": ["MONDO_0021460", "MONDO_0021370"], "name": "benign neoplasm of minor salivary gland"} +{"id": "MONDO_0021494", "parentIds": ["MONDO_0021492", "EFO_0003873"], "name": "benign neoplasm of parotid gland"} +{"id": "MONDO_0021495", "parentIds": ["EFO_1001430", "MONDO_0021492"], "name": "benign neoplasm of sublingual gland"} +{"id": "MONDO_0021496", "parentIds": ["MONDO_0021249", "MONDO_0000385"], "name": "benign neoplasm of lip"} +{"id": "MONDO_0021497", "parentIds": ["EFO_1000107", "MONDO_0021374"], "name": "benign neoplasm of cerebrum"} {"id": "MONDO_0021499", "parentIds": ["EFO_1000107", "MONDO_0002913"], "name": "benign neoplasm of cerebellum"} +{"id": "MONDO_0021500", "parentIds": ["MONDO_0036696", "MONDO_0000630"], "name": "benign neoplasm of spleen"} {"id": "MONDO_0021501", "parentIds": ["MONDO_0004251", "MONDO_0003062"], "name": "benign neoplasm of small intestine"} +{"id": "MONDO_0021503", "parentIds": ["MONDO_0000385", "EFO_0004606", "MONDO_0000627"], "name": "benign neoplasm of gallbladder"} +{"id": "MONDO_0021505", "parentIds": ["MONDO_0021378", "MONDO_0021450"], "name": "benign neoplasm of endocardium"} {"id": "MONDO_0021506", "parentIds": ["EFO_0003828", "MONDO_0000628"], "name": "benign neoplasm of spinal cord"} +{"id": "MONDO_0021507", "parentIds": ["EFO_1001767", "EFO_1000107"], "name": "benign neoplasm of brain stem"} +{"id": "MONDO_0021508", "parentIds": ["MONDO_0021450", "MONDO_0021379", "MONDO_0021514"], "name": "benign neoplasm of epicardium"} +{"id": "MONDO_0021509", "parentIds": ["MONDO_0021380", "MONDO_0021450"], "name": "benign neoplasm of myocardium"} {"id": "MONDO_0021510", "parentIds": ["MONDO_0021259", "MONDO_0000625"], "name": "benign neoplasm of prostate"} {"id": "MONDO_0021511", "parentIds": ["MONDO_0000627", "EFO_0003850"], "name": "benign neoplasm of adrenal gland"} +{"id": "MONDO_0021512", "parentIds": ["MONDO_0000627", "MONDO_0000630", "EFO_0002626"], "name": "benign neoplasm of thymus"} +{"id": "MONDO_0021513", "parentIds": ["MONDO_0021523", "MONDO_0021250", "MONDO_0000382"], "name": "benign neoplasm of tonsil"} +{"id": "MONDO_0021514", "parentIds": ["MONDO_0021381", "MONDO_0000629", "MONDO_0000634"], "name": "benign neoplasm of pericardium"} +{"id": "MONDO_0021515", "parentIds": ["MONDO_0000633", "MONDO_0000631", "MONDO_0001764", "MONDO_0000382"], "name": "benign neoplasm of ethmoidal sinus"} +{"id": "MONDO_0021516", "parentIds": ["MONDO_0002354", "MONDO_0002353"], "name": "benign neoplasm of glottis"} +{"id": "MONDO_0021517", "parentIds": ["MONDO_0000382", "EFO_1001437"], "name": "benign neoplasm of trachea"} +{"id": "MONDO_0021520", "parentIds": ["MONDO_0021383", "MONDO_0000385"], "name": "benign neoplasm of floor of mouth"} +{"id": "MONDO_0021521", "parentIds": ["MONDO_0000634", "MONDO_0021386"], "name": "benign neoplasm of mediastinum"} +{"id": "MONDO_0021523", "parentIds": ["EFO_0002422", "MONDO_0021246"], "name": "benign neoplasm of pharynx"} {"id": "MONDO_0021525", "parentIds": ["MONDO_0000632", "MONDO_0021254"], "name": "benign neoplasm of corpus uteri"} -{"id": "MONDO_0021533", "parentIds": ["MONDO_0002883", "MONDO_0000386", "EFO_0004243"], "name": "intestinal neuroendocrine tumor G1"} +{"id": "MONDO_0021527", "parentIds": ["MONDO_0000628", "EFO_0003851"], "name": "benign neoplasm of meninges"} +{"id": "MONDO_0021528", "parentIds": ["MONDO_0000620"], "name": "benign neoplasm of male breast"} +{"id": "MONDO_0021531", "parentIds": ["EFO_0002424", "MONDO_0021117"], "name": "fibroma of lung"} +{"id": "MONDO_0021532", "parentIds": ["MONDO_0021510", "EFO_0002424"], "name": "fibroma of prostate"} +{"id": "MONDO_0021533", "parentIds": ["EFO_0004243", "MONDO_0000386", "MONDO_0002883"], "name": "intestinal neuroendocrine tumor G1"} +{"id": "MONDO_0021534", "parentIds": ["EFO_1000195", "MONDO_0015068"], "name": "rectal neuroendocrine tumor G1"} +{"id": "MONDO_0021535", "parentIds": ["EFO_0004243", "EFO_1000045"], "name": "pancreatic neuroendocrine tumor G1"} +{"id": "MONDO_0021537", "parentIds": ["MONDO_0015459", "EFO_0006772"], "name": "undifferentiated carcinoma of nasopharynx"} +{"id": "MONDO_0021538", "parentIds": ["EFO_0007535", "EFO_0000199"], "name": "verrucous carcinoma of oral cavity"} {"id": "MONDO_0021539", "parentIds": ["EFO_1000634", "MONDO_0002297"], "name": "hamartoma of skin appendage"} +{"id": "MONDO_0021540", "parentIds": ["EFO_1000634", "MONDO_0021117"], "name": "hamartoma of lung"} +{"id": "MONDO_0021541", "parentIds": ["MONDO_0043218", "MONDO_0021453", "EFO_1000635"], "name": "hemangioma of retina"} +{"id": "MONDO_0021542", "parentIds": ["MONDO_0021487", "EFO_1000635"], "name": "hemangioma of choroid"} +{"id": "MONDO_0021543", "parentIds": ["MONDO_0021491", "EFO_1000635"], "name": "hemangioma of gingiva"} {"id": "MONDO_0021545", "parentIds": ["MONDO_0002616", "MONDO_0003939"], "name": "myomatous neoplasm"} {"id": "MONDO_0021546", "parentIds": ["EFO_1000027", "MONDO_0002542"], "name": "ependymal tumor of spinal cord"} +{"id": "MONDO_0021547", "parentIds": ["MONDO_0019507"], "name": "amelogenesis imperfecta type 3B"} {"id": "MONDO_0021548", "parentIds": ["MONDO_0011060"], "name": "total early-onset cataract"} {"id": "MONDO_0021553", "parentIds": ["EFO_1001472"], "name": "transverse myelitis"} {"id": "MONDO_0021569", "parentIds": ["MONDO_0020336", "MONDO_0015151"], "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant"} +{"id": "MONDO_0021576", "parentIds": ["MONDO_0021092", "MONDO_0021251"], "name": "fallopian tube endometrioid tumor"} +{"id": "MONDO_0021579", "parentIds": ["EFO_0003820"], "name": "neoplasm of femur"} {"id": "MONDO_0021580", "parentIds": ["MONDO_0024653", "EFO_1001047", "EFO_0008549", "MONDO_0023369"], "name": "neoplasm of jaw"} {"id": "MONDO_0021581", "parentIds": ["EFO_0000616", "EFO_1001986"], "name": "connective tissue neoplasm"} -{"id": "MONDO_0021582", "parentIds": ["MONDO_0100118"], "name": "lentigo"} {"id": "MONDO_0021583", "parentIds": ["EFO_0004198", "MONDO_0021143"], "name": "melanocytic skin neoplasm"} {"id": "MONDO_0021605", "parentIds": ["MONDO_0021454", "EFO_1000934", "MONDO_0021440"], "name": "benign eyelid neoplasm"} +{"id": "MONDO_0021607", "parentIds": ["EFO_0005584", "EFO_0009547"], "name": "eyelid seborrheic keratosis"} +{"id": "MONDO_0021627", "parentIds": ["MONDO_0003110", "MONDO_0043218", "MONDO_0021605", "MONDO_0002407"], "name": "eyelid capillary hemangioma"} {"id": "MONDO_0021629", "parentIds": ["MONDO_0045044", "MONDO_0021230"], "name": "uterine ligament neoplasm"} +{"id": "MONDO_0021630", "parentIds": ["EFO_0000759", "EFO_0005950"], "name": "lipoma of face"} {"id": "MONDO_0021631", "parentIds": ["EFO_0000272", "MONDO_0021632"], "name": "brain astrocytoma"} {"id": "MONDO_0021632", "parentIds": ["EFO_0003833"], "name": "primary brain neoplasm"} {"id": "MONDO_0021633", "parentIds": ["MONDO_0021631", "MONDO_0021374"], "name": "cerebral astrocytoma"} @@ -9622,18 +11586,22 @@ {"id": "MONDO_0021638", "parentIds": ["MONDO_0021636", "MONDO_0021637"], "name": "low grade astrocytic tumor"} {"id": "MONDO_0021639", "parentIds": ["MONDO_0021637"], "name": "grade II glioma"} {"id": "MONDO_0021640", "parentIds": ["MONDO_0100342"], "name": "grade III glioma"} -{"id": "MONDO_0021651", "parentIds": ["MONDO_0021002", "MONDO_0021003"], "name": "synpolydactyly"} +{"id": "MONDO_0021642", "parentIds": ["EFO_0009549", "MONDO_0004869"], "name": "vulval varices"} +{"id": "MONDO_0021650", "parentIds": ["MONDO_0021254", "EFO_1001901"], "name": "uterine corpus neuroendocrine neoplasm"} +{"id": "MONDO_0021651", "parentIds": ["MONDO_0018230"], "name": "synpolydactyly"} {"id": "MONDO_0021652", "parentIds": ["EFO_0000228"], "name": "diffuse type adenocarcinoma"} {"id": "MONDO_0021653", "parentIds": ["MONDO_0002523"], "name": "cutaneous focal mucinosis"} {"id": "MONDO_0021656", "parentIds": ["EFO_0000514"], "name": "nongerminomatous germ cell tumor"} {"id": "MONDO_0021657", "parentIds": ["EFO_0003893", "EFO_1000052"], "name": "ovarian sex cord-stromal tumor"} {"id": "MONDO_0021658", "parentIds": ["EFO_0004264"], "name": "vascular ectasia"} +{"id": "MONDO_0021659", "parentIds": ["EFO_0000313"], "name": "combined carcinoid and adenocarcinoma"} +{"id": "MONDO_0021660", "parentIds": ["EFO_0007510"], "name": "deep seated dermatophytosis"} {"id": "MONDO_0021661", "parentIds": ["EFO_0003914", "EFO_0001645"], "name": "coronary atherosclerosis"} {"id": "MONDO_0021662", "parentIds": ["MONDO_0002887", "EFO_0003891"], "name": "bile duct neoplasm"} {"id": "MONDO_0021663", "parentIds": ["EFO_1000520", "EFO_0000707"], "name": "sarcomatoid squamous cell carcinoma"} {"id": "MONDO_0021666", "parentIds": ["EFO_0005741", "MONDO_0021205"], "name": "ear infection"} {"id": "MONDO_0021669", "parentIds": ["EFO_0005741"], "name": "post-infectious disorder"} -{"id": "MONDO_0021677", "parentIds": ["EFO_0009430", "MONDO_0021669"], "name": "post-infectious neuralgia"} +{"id": "MONDO_0021677", "parentIds": ["EFO_0009430", "MONDO_0020010", "MONDO_0021669"], "name": "post-infectious neuralgia"} {"id": "MONDO_0021678", "parentIds": ["EFO_0000771"], "name": "gram-negative bacterial infections"} {"id": "MONDO_0021679", "parentIds": ["EFO_0000771"], "name": "gram-positive bacterial infections"} {"id": "MONDO_0021681", "parentIds": ["EFO_0000512", "EFO_0005741"], "name": "sexually transmitted disease"} @@ -9641,61 +11609,92 @@ {"id": "MONDO_0021698", "parentIds": ["MONDO_0002494"], "name": "alcohol-related disorders"} {"id": "MONDO_0021699", "parentIds": ["MONDO_0021698"], "name": "alcohol-induced disorders"} {"id": "MONDO_0021718", "parentIds": ["MONDO_0002122", "EFO_0009562"], "name": "polyneuritis"} +{"id": "MONDO_0021726", "parentIds": ["EFO_1000888"], "name": "abdominal cystic lymphangioma"} +{"id": "MONDO_0021736", "parentIds": ["MONDO_0024278"], "name": "proctosigmoiditis"} {"id": "MONDO_0021739", "parentIds": ["EFO_1000697"], "name": "prurigo"} {"id": "MONDO_0021747", "parentIds": ["EFO_0005741"], "name": "Acanthamoeba infectious disease"} {"id": "MONDO_0021765", "parentIds": ["EFO_0000618"], "name": "radiculitis"} +{"id": "MONDO_0021783", "parentIds": ["MONDO_0024355", "EFO_1001476", "MONDO_0002258"], "name": "streptococcal sore throat"} {"id": "MONDO_0021804", "parentIds": ["EFO_1000049", "EFO_0007485", "MONDO_0024355"], "name": "silicotuberculosis"} {"id": "MONDO_0021812", "parentIds": ["MONDO_0021489"], "name": "adnexal spiradenoma/cylindroma of a sweat gland"} {"id": "MONDO_0021925", "parentIds": ["EFO_0009433"], "name": "tracheobronchitis"} -{"id": "MONDO_0021944", "parentIds": ["MONDO_0037940", "EFO_0004238"], "name": "auditory neuropathy"} +{"id": "MONDO_0021944", "parentIds": ["MONDO_0037940", "EFO_0004238", "MONDO_0100545"], "name": "auditory neuropathy"} {"id": "MONDO_0021945", "parentIds": ["MONDO_0024417", "EFO_1001455"], "name": "hearing disorder"} +{"id": "MONDO_0021948", "parentIds": ["MONDO_0000368", "MONDO_0024295"], "name": "cutaneous tuberculosis"} +{"id": "MONDO_0021950", "parentIds": ["EFO_1001071", "MONDO_0000569"], "name": "autoimmune oophoritis"} {"id": "MONDO_0021953", "parentIds": ["MONDO_0024355", "EFO_0009448", "EFO_1000049"], "name": "tuberculous fibrosis of lung"} +{"id": "MONDO_0021960", "parentIds": ["EFO_0003086", "MONDO_0001926"], "name": "ureteritis"} {"id": "MONDO_0022057", "parentIds": ["MONDO_0021192", "EFO_0004198"], "name": "calcifying epithelial odontogenic tumor"} {"id": "MONDO_0022096", "parentIds": ["MONDO_0002407"], "name": "pyogenic granuloma"} -{"id": "MONDO_0022113", "parentIds": ["MONDO_0021034"], "name": "central centrifugal cicatricial alopecia"} +{"id": "MONDO_0022103", "parentIds": ["EFO_0003830"], "name": "chronic prostatitis"} +{"id": "MONDO_0022113", "parentIds": ["MONDO_0004907", "EFO_0000508"], "name": "central centrifugal cicatricial alopecia"} {"id": "MONDO_0022173", "parentIds": ["MONDO_0016932"], "name": "chromosome 11q trisomy"} {"id": "MONDO_0022174", "parentIds": ["MONDO_0017277"], "name": "chromosome 12p deletion"} {"id": "MONDO_0022177", "parentIds": ["MONDO_0700029"], "name": "chromosome 13q trisomy"} {"id": "MONDO_0022180", "parentIds": ["MONDO_0700065", "MONDO_0700023"], "name": "chromosome 16 trisomy"} {"id": "MONDO_0022208", "parentIds": ["EFO_1000999"], "name": "crystal arthropathy"} +{"id": "MONDO_0022236", "parentIds": ["EFO_0005774"], "name": "colpocephaly"} {"id": "MONDO_0022293", "parentIds": ["MONDO_0002036", "EFO_0004264"], "name": "vascular disorder of penis"} +{"id": "MONDO_0022308", "parentIds": ["EFO_0005772", "EFO_0005774"], "name": "corticobasal degeneration disorder"} +{"id": "MONDO_0022316", "parentIds": ["EFO_1000017"], "name": "hair defect with photosensitivity and intellectual disability syndrome"} {"id": "MONDO_0022394", "parentIds": ["EFO_1000910"], "name": "cervical intraepithelial neoplasia"} -{"id": "MONDO_0022409", "parentIds": ["MONDO_0100191", "EFO_0003900"], "name": "nephropathy-associated ciliopathy"} -{"id": "MONDO_0022410", "parentIds": ["EFO_0003900", "EFO_0003839"], "name": "retinal ciliopathy"} +{"id": "MONDO_0022410", "parentIds": ["MONDO_0100545", "EFO_0003900", "EFO_0003839"], "name": "retinal ciliopathy"} +{"id": "MONDO_0022435", "parentIds": ["OTAR_0000018"], "name": "Mauriac syndrome"} +{"id": "MONDO_0022454", "parentIds": ["EFO_0006859", "EFO_0003968"], "name": "angiosarcoma of the scalp"} +{"id": "MONDO_0022518", "parentIds": ["MONDO_0002977", "EFO_0009672", "MONDO_0000587"], "name": "autoimmune inner ear disease"} +{"id": "MONDO_0022519", "parentIds": ["EFO_0009609", "MONDO_0030701"], "name": "autoimmune myocarditis"} {"id": "MONDO_0022529", "parentIds": ["MONDO_0005784"], "name": "BK-virus nephropathy"} +{"id": "MONDO_0022538", "parentIds": ["EFO_0009670", "MONDO_0004844"], "name": "leukoplakia of gingiva"} +{"id": "MONDO_0022560", "parentIds": ["MONDO_0001572"], "name": "benign metastasizing leiomyoma"} {"id": "MONDO_0022606", "parentIds": ["EFO_0000684"], "name": "branchial arch disease"} +{"id": "MONDO_0022642", "parentIds": ["MONDO_0021079", "EFO_0004243"], "name": "childhood carcinoid tumor"} +{"id": "MONDO_0022643", "parentIds": ["MONDO_0002355"], "name": "carcinoma of the vocal tract"} +{"id": "MONDO_0022672", "parentIds": ["MONDO_0005129", "MONDO_0000426"], "name": "autosomal dominant cataract"} {"id": "MONDO_0022687", "parentIds": ["EFO_0005772", "MONDO_0002427"], "name": "cerebellar degeneration"} {"id": "MONDO_0022723", "parentIds": ["OTAR_0000018"], "name": "chondrodysplasia"} {"id": "MONDO_0022736", "parentIds": ["EFO_0003818"], "name": "occupational lung disease"} +{"id": "MONDO_0022742", "parentIds": ["MONDO_0004979", "MONDO_0022736"], "name": "occupational asthma"} {"id": "MONDO_0022749", "parentIds": ["EFO_0000701"], "name": "non-neoplastic nevus"} {"id": "MONDO_0022752", "parentIds": ["MONDO_0016894", "MONDO_0019188"], "name": "chromosome 16p13.3 deletion syndrome"} {"id": "MONDO_0022754", "parentIds": ["MONDO_0016879"], "name": "chromosome 17p deletion"} +{"id": "MONDO_0022755", "parentIds": ["MONDO_0020639", "MONDO_0700125"], "name": "chromosome 18 mosaic monosomy"} {"id": "MONDO_0022756", "parentIds": ["MONDO_0016866"], "name": "chromosome 1q deletion"} {"id": "MONDO_0022757", "parentIds": ["MONDO_0700025", "MONDO_0700065"], "name": "chromosome 20 trisomy"} +{"id": "MONDO_0022758", "parentIds": ["MONDO_0019891"], "name": "chromosome 22, monosome mosaic"} {"id": "MONDO_0022759", "parentIds": ["MONDO_0700026", "MONDO_0700065"], "name": "trisomy 22"} {"id": "MONDO_0022760", "parentIds": ["MONDO_0000761"], "name": "chromosome 22q deletion"} {"id": "MONDO_0022762", "parentIds": ["MONDO_0016869"], "name": "chromosome 4 short arm deletion"} {"id": "MONDO_0022770", "parentIds": ["OTAR_0000018"], "name": "circumscribed cutaneous aplasia of the vertex"} {"id": "MONDO_0022800", "parentIds": ["MONDO_0004603", "MONDO_0018230", "MONDO_0023603"], "name": "type 2 collagenopathy"} +{"id": "MONDO_0022901", "parentIds": ["EFO_0000384", "MONDO_0001409"], "name": "Crohn disease of the esophagus"} {"id": "MONDO_0022963", "parentIds": ["MONDO_0016729"], "name": "desmoplastic infantile astrocytoma"} {"id": "MONDO_0022965", "parentIds": ["MONDO_0016729"], "name": "desmoplastic infantile ganglioglioma"} {"id": "MONDO_0023069", "parentIds": ["MONDO_0024654", "EFO_0009672"], "name": "enlarged vestibular aqueduct syndrome"} -{"id": "MONDO_0023113", "parentIds": ["MONDO_0017128", "MONDO_0005575"], "name": "familial colorectal cancer"} +{"id": "MONDO_0023113", "parentIds": ["EFO_0000508", "MONDO_0005575"], "name": "familial colorectal cancer"} +{"id": "MONDO_0023119", "parentIds": ["EFO_0002430"], "name": "familial myelofibrosis"} {"id": "MONDO_0023122", "parentIds": ["EFO_0001663", "EFO_0000508"], "name": "familial prostate carcinoma"} +{"id": "MONDO_0023143", "parentIds": ["EFO_0007255", "MONDO_0016511"], "name": "fetal enterovirus syndrome"} {"id": "MONDO_0023149", "parentIds": ["EFO_1000874"], "name": "infection due to clostridium perfringens"} {"id": "MONDO_0023154", "parentIds": ["OTAR_0000018"], "name": "fibromatosis multiple non ossifying"} +{"id": "MONDO_0023161", "parentIds": ["MONDO_0100329", "EFO_0009609"], "name": "viral myocarditis"} +{"id": "MONDO_0023164", "parentIds": ["EFO_0007427", "MONDO_0100329"], "name": "viral pericarditis"} {"id": "MONDO_0023206", "parentIds": ["MONDO_0021120", "EFO_1000045"], "name": "functional pancreatic neuroendocrine tumor"} -{"id": "MONDO_0023224", "parentIds": ["MONDO_0015653", "EFO_1001146"], "name": "inherited reflex epilepsy"} +{"id": "MONDO_0023224", "parentIds": ["MONDO_0100545", "EFO_1001146"], "name": "inherited reflex epilepsy"} {"id": "MONDO_0023243", "parentIds": ["MONDO_0015469", "MONDO_0000426"], "name": "glass-chapman-hockley syndrome"} +{"id": "MONDO_0023246", "parentIds": ["EFO_1000757"], "name": "linear porokeratosis"} {"id": "MONDO_0023258", "parentIds": ["MONDO_0002413"], "name": "glycogen storage disease type 1 due to SLC37A4 mutation"} +{"id": "MONDO_0023283", "parentIds": ["EFO_1000032", "MONDO_0021657"], "name": "ovarian granulosa cell tumor"} {"id": "MONDO_0023297", "parentIds": ["EFO_0000676"], "name": "guttate psoriasis"} {"id": "MONDO_0023369", "parentIds": ["MONDO_0024654"], "name": "disorder of facial skeleton"} {"id": "MONDO_0023370", "parentIds": ["MONDO_0045024"], "name": "neoplastic disease or syndrome"} {"id": "MONDO_0023419", "parentIds": ["MONDO_0017355"], "name": "hyperprolinemia"} {"id": "MONDO_0023557", "parentIds": ["EFO_0005741", "MONDO_0002234"], "name": "infective vaginitis"} +{"id": "MONDO_0023599", "parentIds": ["EFO_0005571"], "name": "mesomelic dysplasia"} {"id": "MONDO_0023603", "parentIds": ["EFO_1001986", "EFO_0000508"], "name": "hereditary disorder of connective tissue"} {"id": "MONDO_0023619", "parentIds": ["EFO_0000389"], "name": "lentigo maligna melanoma"} {"id": "MONDO_0023644", "parentIds": ["MONDO_0002038"], "name": "lip and oral cavity carcinoma"} +{"id": "MONDO_0023655", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency 14b, autosomal recessive"} +{"id": "MONDO_0023657", "parentIds": ["MONDO_0100172"], "name": "intellectual developmental disorder, autosomal dominant 65"} {"id": "MONDO_0023670", "parentIds": ["MONDO_0015229"], "name": "Bardet-Biedl syndrome 20"} {"id": "MONDO_0023691", "parentIds": ["MONDO_0009563"], "name": "maple syrup urine disease type 1A"} {"id": "MONDO_0023692", "parentIds": ["MONDO_0009563"], "name": "maple syrup urine disease type 1B"} @@ -9703,17 +11702,23 @@ {"id": "MONDO_0023757", "parentIds": ["EFO_0009487"], "name": "meralgia paresthetica"} {"id": "MONDO_0023865", "parentIds": ["MONDO_0016047", "EFO_0009449"], "name": "corneal infection"} {"id": "MONDO_0023868", "parentIds": ["EFO_0003839"], "name": "melanoma associated retinopathy"} -{"id": "MONDO_0024237", "parentIds": ["EFO_0005772", "EFO_0000508"], "name": "inherited neurodegenerative disorder"} +{"id": "MONDO_0023910", "parentIds": ["MONDO_0700247"], "name": "Martsolf syndrome"} +{"id": "MONDO_0023961", "parentIds": ["EFO_0000508"], "name": "visceral neuropathy, familial"} +{"id": "MONDO_0024183", "parentIds": ["EFO_0000618", "EFO_1000837"], "name": "wet beriberi"} +{"id": "MONDO_0024189", "parentIds": ["EFO_0000508"], "name": "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset"} +{"id": "MONDO_0024237", "parentIds": ["EFO_0005772", "MONDO_0100545"], "name": "inherited neurodegenerative disorder"} {"id": "MONDO_0024239", "parentIds": ["EFO_0000319", "OTAR_0000018"], "name": "congenital anomaly of cardiovascular system"} {"id": "MONDO_0024240", "parentIds": ["EFO_0005591", "EFO_0005553"], "name": "eccrine carcinoma"} {"id": "MONDO_0024247", "parentIds": ["MONDO_0021489", "MONDO_0002090"], "name": "benign eccrine neoplasm"} {"id": "MONDO_0024252", "parentIds": ["MONDO_0015653"], "name": "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome"} -{"id": "MONDO_0024257", "parentIds": ["EFO_0003782", "MONDO_0024237"], "name": "hereditary motor neuron disease"} +{"id": "MONDO_0024257", "parentIds": ["MONDO_0100546", "EFO_0003782", "MONDO_0024237"], "name": "hereditary motor neuron disease"} {"id": "MONDO_0024263", "parentIds": ["EFO_0003818"], "name": "neonatal aspiration syndrome"} {"id": "MONDO_0024268", "parentIds": ["MONDO_0000254"], "name": "superficial mycosis"} {"id": "MONDO_0024271", "parentIds": ["EFO_0009561", "EFO_1001342"], "name": "intestinal helminthiasis"} {"id": "MONDO_0024275", "parentIds": ["MONDO_0001955", "EFO_0007144"], "name": "amebic dysentery"} {"id": "MONDO_0024276", "parentIds": ["EFO_0006858"], "name": "glandular cell neoplasm"} +{"id": "MONDO_0024278", "parentIds": ["EFO_0003872", "EFO_0005628"], "name": "proctocolitis"} +{"id": "MONDO_0024279", "parentIds": ["EFO_1001312"], "name": "chronic endometritis"} {"id": "MONDO_0024280", "parentIds": ["EFO_0005856"], "name": "polyarticular arthritis"} {"id": "MONDO_0024282", "parentIds": ["MONDO_0018364", "MONDO_0003756"], "name": "mucinous ovarian cancer"} {"id": "MONDO_0024286", "parentIds": ["MONDO_0021080", "MONDO_0000629"], "name": "benign blood vessel neoplasm"} @@ -9727,6 +11732,7 @@ {"id": "MONDO_0024299", "parentIds": ["EFO_0005583"], "name": "vitamin D-dependent rickets"} {"id": "MONDO_0024300", "parentIds": ["EFO_0005583"], "name": "hypophosphatemic rickets"} {"id": "MONDO_0024301", "parentIds": ["EFO_1000639", "EFO_0009556"], "name": "acquired mineral metabolism disease"} +{"id": "MONDO_0024304", "parentIds": ["MONDO_0015947"], "name": "ichthyosis vulgaris"} {"id": "MONDO_0024305", "parentIds": ["EFO_0007319", "EFO_1000639"], "name": "acquired hyperprolactinemia"} {"id": "MONDO_0024306", "parentIds": ["EFO_1000639", "EFO_1000036"], "name": "acquired lactic acidosis"} {"id": "MONDO_0024307", "parentIds": ["MONDO_0002243"], "name": "prothrombin deficiency"} @@ -9734,27 +11740,38 @@ {"id": "MONDO_0024311", "parentIds": ["EFO_1000350"], "name": "cancer affecting bone of limb skeleton"} {"id": "MONDO_0024315", "parentIds": ["MONDO_0016047", "MONDO_0020947"], "name": "parasitic endophthalmitis"} {"id": "MONDO_0024318", "parentIds": ["EFO_1001456", "EFO_0000763"], "name": "viral infection of central nervous system"} -{"id": "MONDO_0024320", "parentIds": ["EFO_0009672", "MONDO_0021233"], "name": "inner ear neoplasm"} +{"id": "MONDO_0024320", "parentIds": ["EFO_0009672", "MONDO_0021248", "MONDO_0021233"], "name": "inner ear neoplasm"} {"id": "MONDO_0024321", "parentIds": ["MONDO_0024322"], "name": "disorder of GPI anchor biosynthesis"} {"id": "MONDO_0024322", "parentIds": ["EFO_0000589"], "name": "disorder of glycosylation"} +{"id": "MONDO_0024327", "parentIds": ["EFO_0003884", "EFO_1002048"], "name": "chronic renal failure syndrome"} +{"id": "MONDO_0024330", "parentIds": ["MONDO_0020010", "EFO_0004992", "MONDO_0021666"], "name": "infectious otitis media"} {"id": "MONDO_0024334", "parentIds": ["EFO_0003100"], "name": "peripheral nerve lesion"} +{"id": "MONDO_0024336", "parentIds": ["MONDO_0002198", "EFO_0000228", "EFO_0002921"], "name": "vulvar adenocarcinoma"} {"id": "MONDO_0024337", "parentIds": ["MONDO_0021066", "MONDO_0037254"], "name": "urothelial neoplasm"} {"id": "MONDO_0024338", "parentIds": ["MONDO_0024276"], "name": "mucinous neoplasm"} {"id": "MONDO_0024339", "parentIds": ["MONDO_0004928", "MONDO_0002334"], "name": "lymph node neoplasm"} +{"id": "MONDO_0024340", "parentIds": ["EFO_1000509", "EFO_0000621"], "name": "retinal neuroblastoma"} {"id": "MONDO_0024341", "parentIds": ["EFO_1000509"], "name": "retinal cell neoplasm"} {"id": "MONDO_0024352", "parentIds": ["MONDO_0024355", "EFO_0000763"], "name": "viral respiratory tract infection"} +{"id": "MONDO_0024354", "parentIds": ["EFO_0001062", "EFO_0007541"], "name": "cytomegalovirus pneumonia"} {"id": "MONDO_0024355", "parentIds": ["EFO_0000684", "EFO_0005741"], "name": "respiratory tract infectious disorder"} +{"id": "MONDO_0024357", "parentIds": ["MONDO_0004731"], "name": "drug induced central sleep apnea"} {"id": "MONDO_0024358", "parentIds": ["MONDO_0004731", "EFO_0003918"], "name": "complex sleep apnea"} {"id": "MONDO_0024361", "parentIds": ["MONDO_0003406"], "name": "circadian rhythm sleep disorder"} +{"id": "MONDO_0024363", "parentIds": ["EFO_0007462", "MONDO_0024361"], "name": "rapid eye movement sleep disorder"} {"id": "MONDO_0024387", "parentIds": ["MONDO_0021657", "EFO_1000116", "MONDO_0024988"], "name": "benign ovarian sex cord-stromal tumor"} {"id": "MONDO_0024389", "parentIds": ["EFO_0000771"], "name": "anaerobic bacteria infectious disease"} {"id": "MONDO_0024392", "parentIds": ["MONDO_0024389", "EFO_1000833"], "name": "anaerobic balanitis"} {"id": "MONDO_0024414", "parentIds": ["EFO_0003035", "MONDO_0024389"], "name": "anaerobic cellulitis"} +{"id": "MONDO_0024415", "parentIds": ["MONDO_0004627"], "name": "hemorrhagic duodenitis"} {"id": "MONDO_0024417", "parentIds": ["EFO_0000618", "MONDO_0002025"], "name": "perceptual disorders"} -{"id": "MONDO_0024419", "parentIds": ["EFO_0009666"], "name": "enthesitis"} +{"id": "MONDO_0024419", "parentIds": ["EFO_0005755", "EFO_0009666"], "name": "enthesitis"} +{"id": "MONDO_0024422", "parentIds": ["EFO_0000677", "MONDO_0021945"], "name": "auditory perceptual disorders"} {"id": "MONDO_0024431", "parentIds": ["EFO_0000589"], "name": "bilirubin metabolism disease"} {"id": "MONDO_0024457", "parentIds": ["MONDO_0017998", "MONDO_0020127"], "name": "neurodegeneration with brain iron accumulation 2A"} {"id": "MONDO_0024458", "parentIds": [], "name": "disorder of visual system"} +{"id": "MONDO_0024459", "parentIds": ["MONDO_0043424", "EFO_0000776", "EFO_0009431"], "name": "Aeromonas hydrophila intestinal disease"} +{"id": "MONDO_0024462", "parentIds": ["MONDO_0015356"], "name": "susceptibility to familial cutaneous melanoma"} {"id": "MONDO_0024464", "parentIds": ["MONDO_0013099"], "name": "pituitary hormone deficiency, combined, 1"} {"id": "MONDO_0024468", "parentIds": ["EFO_0009607"], "name": "anterior pituitary gland disorder"} {"id": "MONDO_0024469", "parentIds": ["MONDO_0002616"], "name": "chondrogenic neoplasm"} @@ -9768,6 +11785,8 @@ {"id": "MONDO_0024481", "parentIds": ["EFO_0010285"], "name": "skin appendage disorder"} {"id": "MONDO_0024482", "parentIds": ["MONDO_0021539", "MONDO_0002090"], "name": "eccrine sweat gland hamartoma"} {"id": "MONDO_0024483", "parentIds": ["EFO_0000536", "EFO_0009690"], "name": "urothelial hyperplasia"} +{"id": "MONDO_0024487", "parentIds": ["MONDO_0002884", "EFO_0005741"], "name": "nail infection"} +{"id": "MONDO_0024498", "parentIds": ["MONDO_0100242"], "name": "glioma susceptibility 1"} {"id": "MONDO_0024499", "parentIds": ["MONDO_0024296", "EFO_0003820"], "name": "vascular bone neoplasm"} {"id": "MONDO_0024500", "parentIds": ["EFO_1001928", "MONDO_0021375"], "name": "duodenal neuroendocrine neoplasm"} {"id": "MONDO_0024501", "parentIds": ["EFO_0003880", "MONDO_0002882"], "name": "appendix neuroendocrine neoplasm"} @@ -9775,11 +11794,29 @@ {"id": "MONDO_0024503", "parentIds": ["EFO_0008549", "EFO_1001901", "EFO_0010282"], "name": "digestive system neuroendocrine neoplasm"} {"id": "MONDO_0024516", "parentIds": ["MONDO_0100118", "EFO_1000710"], "name": "familial acne inversa"} {"id": "MONDO_0024519", "parentIds": ["MONDO_0018470"], "name": "renal hypodysplasia/aplasia 1"} +{"id": "MONDO_0024521", "parentIds": ["MONDO_0007031"], "name": "aortic aneurysm, familial abdominal, 1"} +{"id": "MONDO_0024522", "parentIds": ["MONDO_0007101"], "name": "amyloidosis, primary localized cutaneous, 1"} {"id": "MONDO_0024525", "parentIds": ["MONDO_0007600"], "name": "Fanconi renotubular syndrome 1"} +{"id": "MONDO_0024526", "parentIds": ["MONDO_0100485", "MONDO_0000200"], "name": "Zimmermann-Laband syndrome 1"} {"id": "MONDO_0024528", "parentIds": ["MONDO_0008003"], "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"} -{"id": "MONDO_0024546", "parentIds": ["MONDO_0016620", "MONDO_0800084"], "name": "hypertrophic osteoarthropathy, primary, autosomal recessive, 1"} +{"id": "MONDO_0024531", "parentIds": ["MONDO_0008051"], "name": "myopathy, tubular aggregate, 1"} +{"id": "MONDO_0024533", "parentIds": ["MONDO_0017148"], "name": "pulmonary hypertension, primary, 1"} +{"id": "MONDO_0024534", "parentIds": ["MONDO_0008371"], "name": "Dowling-Degos disease 1"} +{"id": "MONDO_0024535", "parentIds": ["MONDO_0700262", "MONDO_0008429", "MONDO_0800064"], "name": "Singleton-Merten syndrome 1"} +{"id": "MONDO_0024537", "parentIds": ["MONDO_0008891"], "name": "Brown-Vialetto-van Laere syndrome 1"} +{"id": "MONDO_0024539", "parentIds": ["MONDO_0100441", "MONDO_0008982", "MONDO_0043218"], "name": "choroidal dystrophy, central areolar, 1"} +{"id": "MONDO_0024540", "parentIds": ["MONDO_0002441"], "name": "Jervell and Lange-Nielsen syndrome 1"} +{"id": "MONDO_0024545", "parentIds": ["MONDO_0009685", "MONDO_0016145"], "name": "Miyoshi muscular dystrophy 1"} +{"id": "MONDO_0024546", "parentIds": ["MONDO_0016620"], "name": "hypertrophic osteoarthropathy, primary, autosomal recessive, 1"} +{"id": "MONDO_0024547", "parentIds": ["MONDO_0009832"], "name": "pancreatic agenesis 1"} {"id": "MONDO_0024548", "parentIds": ["MONDO_0010033"], "name": "peeling skin syndrome 1"} +{"id": "MONDO_0024550", "parentIds": ["MONDO_0015942"], "name": "frontometaphyseal dysplasia 1"} +{"id": "MONDO_0024560", "parentIds": ["MONDO_0100547", "EFO_0005207", "EFO_0004264"], "name": "PDA1"} +{"id": "MONDO_0024561", "parentIds": ["MONDO_0011979"], "name": "vitelliform macular dystrophy 3"} +{"id": "MONDO_0024562", "parentIds": ["MONDO_0012061"], "name": "sick sinus syndrome 1"} +{"id": "MONDO_0024567", "parentIds": ["MONDO_0014176"], "name": "hypotonia, infantile, with psychomotor retardation and characteristic facies 1"} {"id": "MONDO_0024568", "parentIds": ["MONDO_0000023"], "name": "infantile liver failure syndrome 1"} +{"id": "MONDO_0024570", "parentIds": ["MONDO_0800096", "MONDO_0023603", "EFO_0003820", "MONDO_0015027"], "name": "hyperparathyroidism 4"} {"id": "MONDO_0024572", "parentIds": ["EFO_0000540"], "name": "immunodeficiency-related disorder"} {"id": "MONDO_0024573", "parentIds": ["EFO_0000538", "EFO_0002945"], "name": "familial hypertrophic cardiomyopathy"} {"id": "MONDO_0024574", "parentIds": ["MONDO_0002242"], "name": "von Willebrand disease (hereditary or acquired)"} @@ -9787,6 +11824,7 @@ {"id": "MONDO_0024610", "parentIds": ["MONDO_0024294", "EFO_0001067"], "name": "parasitic skin disorder"} {"id": "MONDO_0024611", "parentIds": ["MONDO_0023369", "MONDO_0024653"], "name": "orbit neoplasm"} {"id": "MONDO_0024615", "parentIds": ["EFO_0001642"], "name": "T-cell and NK-cell neoplasm"} +{"id": "MONDO_0024616", "parentIds": ["EFO_0004992", "EFO_0009570"], "name": "tympanitis"} {"id": "MONDO_0024618", "parentIds": ["EFO_0007255"], "name": "poliovirus infection"} {"id": "MONDO_0024620", "parentIds": ["MONDO_0024618", "MONDO_0024318", "EFO_0000584"], "name": "meningitis caused by poliovirus"} {"id": "MONDO_0024621", "parentIds": ["EFO_0003825", "EFO_0006387"], "name": "serous cystadenocarcinoma"} @@ -9797,29 +11835,49 @@ {"id": "MONDO_0024635", "parentIds": ["EFO_0009431"], "name": "small intestine disorder"} {"id": "MONDO_0024636", "parentIds": ["EFO_0003777"], "name": "inflammation of heart layer"} {"id": "MONDO_0024637", "parentIds": ["EFO_1000541", "MONDO_0004992"], "name": "malignant soft tissue neoplasm"} +{"id": "MONDO_0024638", "parentIds": ["MONDO_0003525", "MONDO_0023206"], "name": "pancreatic gastrinoma"} +{"id": "MONDO_0024642", "parentIds": ["MONDO_0015062"], "name": "gastric neuroendocrine tumor G2"} {"id": "MONDO_0024643", "parentIds": ["EFO_0003777"], "name": "myocardial disorder"} {"id": "MONDO_0024645", "parentIds": ["EFO_0000616"], "name": "retroperitoneal neoplasm"} {"id": "MONDO_0024647", "parentIds": ["EFO_0009690"], "name": "urolithiasis"} +{"id": "MONDO_0024648", "parentIds": ["MONDO_0001834", "EFO_0003833", "MONDO_0016642"], "name": "optic tract meningioma"} {"id": "MONDO_0024649", "parentIds": ["MONDO_0000649", "MONDO_0003169", "MONDO_0016167"], "name": "optic tract astrocytoma"} {"id": "MONDO_0024653", "parentIds": ["MONDO_0024654", "EFO_0003820", "EFO_0005950"], "name": "skull neoplasm"} {"id": "MONDO_0024654", "parentIds": ["EFO_0004260"], "name": "skull disorder"} -{"id": "MONDO_0024656", "parentIds": ["MONDO_0005575", "MONDO_0004699", "MONDO_0023113"], "name": "colorectal lymphoma"} +{"id": "MONDO_0024655", "parentIds": ["EFO_1001161", "EFO_0007427"], "name": "rheumatic pericarditis"} +{"id": "MONDO_0024656", "parentIds": ["MONDO_0005575", "MONDO_0004699"], "name": "colorectal lymphoma"} +{"id": "MONDO_0024658", "parentIds": ["MONDO_0002862", "MONDO_0021321"], "name": "extrahepatic bile duct sarcoma"} +{"id": "MONDO_0024659", "parentIds": ["EFO_0007330", "MONDO_0043424", "EFO_0000558", "MONDO_0024634"], "name": "colorectal Kaposi sarcoma"} {"id": "MONDO_0024660", "parentIds": ["EFO_0000232"], "name": "tubular adenoma"} {"id": "MONDO_0024661", "parentIds": ["EFO_0000232"], "name": "tubulovillous adenoma"} {"id": "MONDO_0024662", "parentIds": ["EFO_0005406", "MONDO_0024661"], "name": "colorectal tubulovillous adenoma"} {"id": "MONDO_0024664", "parentIds": ["EFO_0009682", "EFO_0000537"], "name": "hypertension, pregnancy-induced"} {"id": "MONDO_0024665", "parentIds": ["MONDO_0002145"], "name": "indeterminate sex and/or pseudohermaphroditism"} {"id": "MONDO_0024666", "parentIds": ["MONDO_0036976", "MONDO_0021634", "MONDO_0021440"], "name": "benign epithelial skin neoplasm"} +{"id": "MONDO_0024673", "parentIds": ["MONDO_0002013", "MONDO_0024666"], "name": "skin lymphangioma"} +{"id": "MONDO_0024675", "parentIds": ["MONDO_0019004"], "name": "adult kidney Wilms tumor"} {"id": "MONDO_0024677", "parentIds": ["MONDO_0023206", "EFO_0000549"], "name": "pancreatic insulinoma"} +{"id": "MONDO_0024686", "parentIds": ["EFO_1000562", "EFO_0005755", "MONDO_0000631", "EFO_0008997", "MONDO_0024715"], "name": "tenosynovial giant cell tumor, diffuse type"} +{"id": "MONDO_0024715", "parentIds": ["MONDO_0002528", "MONDO_0044335"], "name": "benign synovial neoplasm"} +{"id": "MONDO_0024744", "parentIds": ["MONDO_0021079", "MONDO_0016717"], "name": "childhood choroid plexus neoplasm"} {"id": "MONDO_0024757", "parentIds": ["EFO_0000319", "EFO_0000616"], "name": "cardiovascular neoplasm"} +{"id": "MONDO_0024770", "parentIds": ["MONDO_0031384"], "name": "autoinflammatory syndrome, familial, X-linked, Behcet-like 2"} +{"id": "MONDO_0024771", "parentIds": ["MONDO_0018949"], "name": "myopathy, distal, 7, adult-onset, X-linked"} +{"id": "MONDO_0024772", "parentIds": ["MONDO_0020119"], "name": "intellectual developmental disorder, X-linked, syndromic, Pilorge type"} +{"id": "MONDO_0024777", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency 98 with autoinflammation, X-linked"} +{"id": "MONDO_0024797", "parentIds": ["EFO_1001767"], "name": "adult brain stem neoplasm"} {"id": "MONDO_0024813", "parentIds": ["MONDO_0021117"], "name": "pulmonary sulcus neoplasm"} +{"id": "MONDO_0024868", "parentIds": ["MONDO_0004202", "MONDO_0024879"], "name": "metastatic carcinoma in the adrenal medulla"} {"id": "MONDO_0024876", "parentIds": ["EFO_1001434"], "name": "tendon sheath disorder"} {"id": "MONDO_0024878", "parentIds": ["EFO_0000313", "EFO_0009812"], "name": "secondary carcinoma"} {"id": "MONDO_0024879", "parentIds": ["MONDO_0024878", "MONDO_0024880"], "name": "metastatic carcinoma"} {"id": "MONDO_0024880", "parentIds": ["EFO_0009709", "EFO_0009812"], "name": "metastatic malignant neoplasm"} {"id": "MONDO_0024882", "parentIds": ["MONDO_0023370"], "name": "secondary neoplasm"} +{"id": "MONDO_0024884", "parentIds": ["MONDO_0002415", "MONDO_0024879"], "name": "metastatic carcinoma in the bone"} {"id": "MONDO_0024885", "parentIds": ["MONDO_0018364", "MONDO_0037255"], "name": "malignant ovarian serous tumor"} {"id": "MONDO_0024886", "parentIds": ["EFO_1000070"], "name": "serous adenofibroma"} +{"id": "MONDO_0024888", "parentIds": ["EFO_0003865", "EFO_0006858"], "name": "mesonephric neoplasm"} +{"id": "MONDO_0024889", "parentIds": ["MONDO_0024888", "MONDO_0036976", "MONDO_0002513"], "name": "benign mesonephroma"} {"id": "MONDO_0024890", "parentIds": ["MONDO_0021232", "MONDO_0021193"], "name": "pineal parenchymal cell neoplasm"} {"id": "MONDO_0024892", "parentIds": ["EFO_1000541", "EFO_1001875"], "name": "soft tissue amyloid neoplasm"} {"id": "MONDO_0024905", "parentIds": ["EFO_0005932"], "name": "bird disease"} @@ -9832,20 +11890,32 @@ {"id": "MONDO_0024990", "parentIds": ["EFO_0005932"], "name": "swine disease"} {"id": "MONDO_0025003", "parentIds": ["EFO_0005932"], "name": "goat disease"} {"id": "MONDO_0025082", "parentIds": ["MONDO_0024969"], "name": "helminthiasis, animal"} -{"id": "MONDO_0025193", "parentIds": ["MONDO_0016106", "MONDO_0018949", "MONDO_0020158"], "name": "oculopharyngodistal myopathy"} +{"id": "MONDO_0025193", "parentIds": ["MONDO_0016106", "MONDO_0018949"], "name": "oculopharyngodistal myopathy"} {"id": "MONDO_0025294", "parentIds": ["MONDO_0100120"], "name": "tick-borne infectious disease"} {"id": "MONDO_0025303", "parentIds": ["MONDO_0025294", "EFO_1001123"], "name": "anaplasmosis"} +{"id": "MONDO_0025351", "parentIds": ["EFO_0000508"], "name": "multiple congenital anomalies-neurodevelopmental syndrome, X-linked"} +{"id": "MONDO_0025353", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy, 90"} {"id": "MONDO_0025354", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure, X-linked, 3"} +{"id": "MONDO_0025356", "parentIds": ["EFO_0000508"], "name": "azoospermia, obstructive, with nephrolithiasis"} {"id": "MONDO_0025371", "parentIds": ["EFO_0000763"], "name": "Parvoviridae infectious disease"} -{"id": "MONDO_0025445", "parentIds": ["MONDO_0700223", "MONDO_0015168"], "name": "Wieacker-Wolff syndrome (spectrum)"} -{"id": "MONDO_0025511", "parentIds": ["EFO_0000508", "EFO_1001901"], "name": "inherited neuroendocrine tumor"} +{"id": "MONDO_0025445", "parentIds": ["MONDO_0015168", "MONDO_0700223"], "name": "Wieacker-Wolff syndrome (spectrum)"} +{"id": "MONDO_0025513", "parentIds": ["EFO_0005531", "EFO_0005809"], "name": "autoimmune urticaria"} +{"id": "MONDO_0025598", "parentIds": ["EFO_0007205", "MONDO_0041850"], "name": "pneumonia caused by chlamydia"} +{"id": "MONDO_0025622", "parentIds": ["MONDO_0015626"], "name": "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1"} +{"id": "MONDO_0025699", "parentIds": ["MONDO_0015452"], "name": "Coffin-Siris syndrome 12"} {"id": "MONDO_0025708", "parentIds": ["MONDO_0025986"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 2"} -{"id": "MONDO_0025986", "parentIds": ["EFO_0000508", "MONDO_0021189"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome"} +{"id": "MONDO_0025986", "parentIds": ["MONDO_0021189", "EFO_0000508"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome"} {"id": "MONDO_0026045", "parentIds": ["EFO_0000701"], "name": "prurigo nodularis"} +{"id": "MONDO_0026404", "parentIds": ["MONDO_0100209"], "name": "X inactivation, familial skewed, 1"} {"id": "MONDO_0026722", "parentIds": ["EFO_0000508"], "name": "Mullegama-Klein-Martinez syndrome"} {"id": "MONDO_0026730", "parentIds": ["OTAR_0000018"], "name": "Basilicata-Akhtar syndrome"} {"id": "MONDO_0026733", "parentIds": ["MONDO_0020119"], "name": "intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type"} {"id": "MONDO_0026767", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency 74, COVID-19-related, X-linked"} +{"id": "MONDO_0026777", "parentIds": ["MONDO_0019751", "MONDO_0023603"], "name": "VEXAS syndrome"} +{"id": "MONDO_0027026", "parentIds": ["EFO_0007147", "MONDO_0002149", "EFO_0007535"], "name": "Buschke Lowenstein tumor"} +{"id": "MONDO_0027029", "parentIds": ["EFO_0007474", "EFO_0007538"], "name": "HHV-6 encephalitis"} +{"id": "MONDO_0027069", "parentIds": ["MONDO_0014471"], "name": "mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1"} +{"id": "MONDO_0027353", "parentIds": ["MONDO_0015780"], "name": "autosomal recessive dyskeratosis congenita 4"} {"id": "MONDO_0027407", "parentIds": ["MONDO_0012455"], "name": "Kleefstra syndrome 1"} {"id": "MONDO_0027749", "parentIds": ["EFO_0000508"], "name": "serpinopathy"} {"id": "MONDO_0027766", "parentIds": ["EFO_1000727"], "name": "generalized lipodystrophy"} @@ -9862,6 +11932,7 @@ {"id": "MONDO_0029140", "parentIds": ["MONDO_0015286", "MONDO_0002525", "MONDO_0024321"], "name": "glycosylphosphatidylinositol biosynthesis defect 18"} {"id": "MONDO_0029143", "parentIds": ["EFO_0000508"], "name": "intellectual developmental disorder with hypertelorism and distinctive facies"} {"id": "MONDO_0029144", "parentIds": ["EFO_0000508"], "name": "extraoral halitosis due to methanethiol oxidase deficiency"} +{"id": "MONDO_0029145", "parentIds": ["MONDO_0000358"], "name": "orofacial cleft 8"} {"id": "MONDO_0030006", "parentIds": ["MONDO_0000732"], "name": "combined oxidative phosphorylation deficiency 40"} {"id": "MONDO_0030007", "parentIds": ["MONDO_0000732"], "name": "combined oxidative phosphorylation deficiency 41"} {"id": "MONDO_0030008", "parentIds": ["MONDO_0000732"], "name": "combined oxidative phosphorylation deficiency 42"} @@ -9893,7 +11964,7 @@ {"id": "MONDO_0030049", "parentIds": ["EFO_0000508"], "name": "46,xx sex reversal 5"} {"id": "MONDO_0030051", "parentIds": ["EFO_0000508"], "name": "intellectual developmental disorder with autistic features and language delay, with or without seizures"} {"id": "MONDO_0030054", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy, 86"} -{"id": "MONDO_0030055", "parentIds": ["EFO_0000508"], "name": "sorbitol dehydrogenase deficiency with peripheral neuropathy"} +{"id": "MONDO_0030055", "parentIds": ["MONDO_0015363"], "name": "neuronopathy, distal hereditary motor, autosomal recessive 8"} {"id": "MONDO_0030057", "parentIds": ["EFO_0000508"], "name": "neurodevelopmental, jaw, eye, and digital syndrome"} {"id": "MONDO_0030058", "parentIds": ["MONDO_0019587"], "name": "hearing loss, autosomal dominant 77"} {"id": "MONDO_0030059", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy, 87"} @@ -9917,33 +11988,140 @@ {"id": "MONDO_0030105", "parentIds": ["MONDO_0018116", "MONDO_0800152"], "name": "galactosemia 4"} {"id": "MONDO_0030118", "parentIds": ["MONDO_0008394"], "name": "silver-russell syndrome 4"} {"id": "MONDO_0030134", "parentIds": ["MONDO_0025193"], "name": "oculopharyngodistal myopathy 2"} +{"id": "MONDO_0030258", "parentIds": ["MONDO_0020135"], "name": "pontocerebellar hypoplasia, type 14"} {"id": "MONDO_0030260", "parentIds": ["MONDO_0020135"], "name": "pontocerebellar hypoplasia, type 1E"} +{"id": "MONDO_0030261", "parentIds": ["MONDO_0020135"], "name": "pontocerebellar hypoplasia, type 1F"} +{"id": "MONDO_0030266", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency 80 with or without congenital cardiomyopathy"} +{"id": "MONDO_0030294", "parentIds": ["MONDO_0025986"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 3"} +{"id": "MONDO_0030296", "parentIds": ["MONDO_0025986"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 4"} +{"id": "MONDO_0030308", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency 82 with systemic inflammation"} +{"id": "MONDO_0030309", "parentIds": ["MONDO_0100223"], "name": "Leber hereditary optic neuropathy, autosomal recessive"} +{"id": "MONDO_0030326", "parentIds": ["MONDO_0018158"], "name": "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)"} +{"id": "MONDO_0030329", "parentIds": ["MONDO_0025986"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 5"} +{"id": "MONDO_0030330", "parentIds": ["MONDO_0016340"], "name": "cardiomyopathy, familial restrictive, 6"} +{"id": "MONDO_0030331", "parentIds": ["MONDO_0019078"], "name": "Ritscher-Schinzel syndrome 4"} +{"id": "MONDO_0030332", "parentIds": ["MONDO_0016575"], "name": "ciliary dyskinesia, primary, 46"} +{"id": "MONDO_0030341", "parentIds": ["MONDO_0002320", "MONDO_0018940"], "name": "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive"} {"id": "MONDO_0030353", "parentIds": ["MONDO_0018772"], "name": "Joubert syndrome 38"} +{"id": "MONDO_0030355", "parentIds": ["MONDO_0001347"], "name": "facioscapulohumeral muscular dystrophy 4, digenic"} {"id": "MONDO_0030356", "parentIds": ["MONDO_0018770"], "name": "short-rib thoracic dysplasia 21 without polydactyly"} {"id": "MONDO_0030361", "parentIds": ["MONDO_0018866"], "name": "Aicardi-Goutieres syndrome 8"} -{"id": "MONDO_0030362", "parentIds": ["MONDO_0018866"], "name": "Aicardi-Goutieres syndrome 9"} +{"id": "MONDO_0030362", "parentIds": ["MONDO_0018866", "MONDO_0700263"], "name": "Aicardi-Goutieres syndrome 9"} +{"id": "MONDO_0030375", "parentIds": ["MONDO_0024189"], "name": "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2"} +{"id": "MONDO_0030376", "parentIds": ["MONDO_0023910"], "name": "Martsolf syndrome 2"} +{"id": "MONDO_0030399", "parentIds": ["MONDO_0023961"], "name": "visceral neuropathy, familial, 2, autosomal recessive"} {"id": "MONDO_0030423", "parentIds": ["EFO_0005546"], "name": "congenital disorder of glycosylation, type 2v"} +{"id": "MONDO_0030433", "parentIds": ["MONDO_0015626"], "name": "Charcot-Marie-Tooth disease, axonal, type 2FF"} +{"id": "MONDO_0030437", "parentIds": ["EFO_0005546"], "name": "congenital disorder of glycosylation, type IIw"} +{"id": "MONDO_0030454", "parentIds": ["MONDO_0018772"], "name": "Joubert syndrome 39"} {"id": "MONDO_0030458", "parentIds": ["MONDO_0015626"], "name": "Charcot-Marie-Tooth disease, axonal, Type 2HH"} {"id": "MONDO_0030472", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy 98"} {"id": "MONDO_0030473", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy 99"} +{"id": "MONDO_0030480", "parentIds": ["MONDO_0019588"], "name": "hearing loss, autosomal recessive 119"} +{"id": "MONDO_0030487", "parentIds": ["MONDO_0016763"], "name": "spondylometaphyseal dysplasia, pagnamenta type"} +{"id": "MONDO_0030489", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex 2A, generalized severe"} +{"id": "MONDO_0030491", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency 91 and hyperinflammation"} +{"id": "MONDO_0030500", "parentIds": ["MONDO_0018954"], "name": "Loeys-Dietz syndrome 6"} {"id": "MONDO_0030502", "parentIds": ["MONDO_0700064"], "name": "tetrasomy"} +{"id": "MONDO_0030503", "parentIds": ["MONDO_0015762"], "name": "cholestasis, progressive familial intrahepatic, 7, with or without hearing loss"} +{"id": "MONDO_0030507", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 61"} +{"id": "MONDO_0030512", "parentIds": ["MONDO_0015150"], "name": "spastic paraplegia 85, autosomal recessive"} +{"id": "MONDO_0030514", "parentIds": ["MONDO_0019046"], "name": "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy"} +{"id": "MONDO_0030515", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 63"} +{"id": "MONDO_0030517", "parentIds": ["MONDO_0018053"], "name": "trichothiodystrophy 8, nonphotosensitive"} +{"id": "MONDO_0030525", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex 2B, generalized intermediate"} +{"id": "MONDO_0030527", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex 2C, localized"} +{"id": "MONDO_0030529", "parentIds": ["MONDO_0015977"], "name": "agammaglobulinemia 10, autosomal dominant"} +{"id": "MONDO_0030531", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 65"} +{"id": "MONDO_0030534", "parentIds": ["MONDO_0018555"], "name": "hypogonadotropic hypogonadism 26 with or without anosmia"} +{"id": "MONDO_0030535", "parentIds": ["MONDO_0017610"], "name": "epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive"} +{"id": "MONDO_0030543", "parentIds": ["MONDO_0000732"], "name": "combined oxidative phosphorylation deficiency 54"} +{"id": "MONDO_0030602", "parentIds": ["EFO_1001272", "MONDO_0030603"], "name": "Klebsiella pneumonia"} {"id": "MONDO_0030603", "parentIds": ["EFO_0000771"], "name": "Klebsiella infectious disease"} +{"id": "MONDO_0030606", "parentIds": ["MONDO_0031200"], "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 1"} +{"id": "MONDO_0030607", "parentIds": ["MONDO_0031200"], "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 2"} +{"id": "MONDO_0030625", "parentIds": ["MONDO_0031115"], "name": "dyskinesia with orofacial involvement, autosomal recessive"} +{"id": "MONDO_0030634", "parentIds": ["MONDO_0030796"], "name": "leukoencephalopathy, hereditary diffuse, with spheroids 2"} +{"id": "MONDO_0030639", "parentIds": ["EFO_0000508"], "name": "Teebi hypertelorism syndrome"} +{"id": "MONDO_0030676", "parentIds": ["MONDO_0013150"], "name": "parkinsonism-dystonia 3, childhood-onset"} +{"id": "MONDO_0030677", "parentIds": ["MONDO_0015626"], "name": "Charcot-Marie-Tooth disease, demyelinating, IIA 1I"} +{"id": "MONDO_0030680", "parentIds": ["MONDO_0016333"], "name": "cardiomyopathy, dilated, 2F"} +{"id": "MONDO_0030689", "parentIds": ["MONDO_0015626"], "name": "Charcot-Marie-Tooth disease, demyelinating, IIA 1H"} +{"id": "MONDO_0030692", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency 95"} {"id": "MONDO_0030693", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency 96"} +{"id": "MONDO_0030695", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy 100"} +{"id": "MONDO_0030700", "parentIds": ["MONDO_0002462", "EFO_0005809"], "name": "autoimmune glomerulonephritis"} +{"id": "MONDO_0030701", "parentIds": ["EFO_0000318", "MONDO_0000589", "MONDO_0000603"], "name": "autoimmune cardiomyopathy"} +{"id": "MONDO_0030702", "parentIds": ["MONDO_0000603", "EFO_0003914"], "name": "autoimmune atherosclerosis"} +{"id": "MONDO_0030703", "parentIds": ["MONDO_0000603", "EFO_0006803"], "name": "autoimmune vasculitis"} +{"id": "MONDO_0030705", "parentIds": ["EFO_0003830", "DOID_1947"], "name": "Trichomonas prostatitis"} +{"id": "MONDO_0030706", "parentIds": ["EFO_1000025", "EFO_0007521"], "name": "Trichomonas cystitis"} +{"id": "MONDO_0030707", "parentIds": ["DOID_1947", "MONDO_0001618"], "name": "Trichomonas balanoposthitis"} +{"id": "MONDO_0030708", "parentIds": ["MONDO_0002345", "DOID_1947"], "name": "Trichomonas cervicitis"} +{"id": "MONDO_0030711", "parentIds": ["MONDO_0019403"], "name": "Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive"} +{"id": "MONDO_0030714", "parentIds": ["MONDO_0019019"], "name": "osteogenesis imperfecta, IIA 22"} +{"id": "MONDO_0030720", "parentIds": ["MONDO_0023557", "EFO_0007521", "EFO_1001240"], "name": "trichomonal vulvovaginitis"} +{"id": "MONDO_0030723", "parentIds": ["MONDO_0019587"], "name": "hearing loss, autosomal dominant 83"} +{"id": "MONDO_0030726", "parentIds": ["MONDO_0018542"], "name": "neutropenia, severe congenital, 9, autosomal dominant"} +{"id": "MONDO_0030727", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy 101"} +{"id": "MONDO_0030733", "parentIds": ["EFO_0000279"], "name": 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"Heyn-Sproul-Jackson syndrome"} {"id": "MONDO_0032884", "parentIds": ["EFO_0000508"], "name": "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies"} @@ -10073,9 +12355,14 @@ {"id": "MONDO_0033043", "parentIds": ["MONDO_0017847", "MONDO_0019046"], "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"} {"id": "MONDO_0033201", "parentIds": ["MONDO_0019588"], "name": "hearing loss, autosomal recessive 57"} {"id": "MONDO_0033204", "parentIds": ["MONDO_0016575"], "name": "ciliary dyskinesia, primary, 37"} +{"id": "MONDO_0033280", "parentIds": ["MONDO_0002350"], "name": "nephrotic syndrome 16"} {"id": "MONDO_0033352", "parentIds": ["MONDO_0020127", "MONDO_0002320"], "name": "neuropathy, congenital hypomelinating"} {"id": "MONDO_0033361", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy, 52"} {"id": "MONDO_0033363", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic 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"MONDO_0033554", "parentIds": ["MONDO_0017855"], "name": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"} {"id": "MONDO_0033555", "parentIds": ["MONDO_0017855"], "name": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia"} -{"id": "MONDO_0033556", "parentIds": ["MONDO_0000172"], "name": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15"} +{"id": "MONDO_0033556", "parentIds": ["MONDO_0000172", "MONDO_0013049"], "name": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15"} {"id": "MONDO_0033557", "parentIds": ["MONDO_0015541"], "name": "hemophagocytic lymphohistiocytosis, familial, 6"} {"id": "MONDO_0033558", "parentIds": ["EFO_0000508"], "name": "autoinflammation, immune dysregulation, and eosinophilia"} {"id": "MONDO_0033559", "parentIds": ["EFO_0000508"], "name": "intellectual developmental disorder with seizures and language delay"} @@ -10117,11 +12404,14 @@ {"id": "MONDO_0033621", "parentIds": ["EFO_0000508"], "name": "spinal muscular atrophy, infantile, James type"} {"id": "MONDO_0033622", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 44"} {"id": "MONDO_0033630", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with speech impairment and dysmorphic facies"} +{"id": "MONDO_0033631", "parentIds": ["MONDO_0000732"], "name": "combined oxidative phosphorylation deficiency 51"} {"id": "MONDO_0033635", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 3"} {"id": "MONDO_0033636", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 4"} {"id": "MONDO_0033637", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 7"} {"id": "MONDO_0033638", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 8"} {"id": "MONDO_0033639", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 10"} +{"id": "MONDO_0033641", "parentIds": ["EFO_0000508"], "name": "cleft palate, proliferative retinopathy, and developmental delay"} +{"id": "MONDO_0033642", "parentIds": ["MONDO_0100500", "MONDO_0800159"], "name": "neurodevelopmental disorder with alopecia and brain abnormalities"} {"id": "MONDO_0033643", "parentIds": ["EFO_0003767"], "name": "inflammatory bowel disease 30"} {"id": "MONDO_0033645", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 11"} {"id": "MONDO_0033646", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 12"} @@ -10133,67 +12423,95 @@ {"id": "MONDO_0033654", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 19"} {"id": "MONDO_0033655", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 20"} {"id": "MONDO_0033656", "parentIds": ["MONDO_0033885"], "name": "mitochondrial complex 4 deficiency, nuclear type 21"} +{"id": "MONDO_0033657", "parentIds": ["MONDO_0019046"], "name": "leukodystrophy, hypomyelinating, 20"} +{"id": "MONDO_0033658", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with seizures and brain atrophy"} +{"id": "MONDO_0033662", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy"} {"id": "MONDO_0033664", "parentIds": ["EFO_0000508"], "name": "Kilquist syndrome"} {"id": "MONDO_0033665", "parentIds": ["MONDO_0019587"], "name": "hearing loss, autosomal dominant 78"} {"id": "MONDO_0033667", "parentIds": ["EFO_0000508"], "name": "Delpire-McNeill syndrome"} +{"id": "MONDO_0033668", "parentIds": ["MONDO_0019587"], "name": "hearing loss, autosomal dominant 79"} +{"id": "MONDO_0033670", "parentIds": ["MONDO_0019588"], "name": "hearing loss, autosomal recessive 116"} {"id": "MONDO_0033671", "parentIds": 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["MONDO_0021669", "MONDO_0001549"], "name": "infection-related hemolytic uremic syndrome"} +{"id": "MONDO_0034054", "parentIds": ["MONDO_0015974", "MONDO_0016537"], "name": "severe combined immunodeficiency due to CD70 deficiency"} +{"id": "MONDO_0034092", "parentIds": ["EFO_1000017", "MONDO_0020127", "MONDO_0044970"], "name": "optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"} +{"id": "MONDO_0034099", "parentIds": ["MONDO_0100545", "MONDO_0020071"], "name": "SYNGAP1-related developmental and epileptic encephalopathy"} +{"id": "MONDO_0034103", "parentIds": ["MONDO_0001549", "MONDO_0021669"], "name": "infection-related hemolytic uremic syndrome"} +{"id": "MONDO_0034121", "parentIds": ["EFO_1000017", "MONDO_0019052", "EFO_0009158"], "name": "NAD(P)HX dehydratase deficiency"} {"id": "MONDO_0034145", "parentIds": ["EFO_0003900", "MONDO_0015159"], "name": "oculocerebrodental syndrome"} -{"id": "MONDO_0034204", "parentIds": ["MONDO_0019126", "MONDO_0015170"], "name": "syndromic congenital sodium diarrhea"} -{"id": "MONDO_0034217", "parentIds": ["MONDO_0001328"], "name": "resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"} +{"id": "MONDO_0034204", "parentIds": ["MONDO_0015170"], "name": "syndromic congenital sodium diarrhea"} {"id": "MONDO_0034976", "parentIds": ["MONDO_0018686", "MONDO_0043544"], "name": "iatrogenic Creutzfeldt-Jakob disease"} -{"id": "MONDO_0035133", "parentIds": ["MONDO_0015159", "MONDO_0016565", "MONDO_0002320"], "name": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"} -{"id": "MONDO_0035162", "parentIds": ["MONDO_0019716"], "name": "PIK3CA-related overgrowth syndrome"} +{"id": "MONDO_0035122", "parentIds": ["OTAR_0000018"], "name": "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder"} +{"id": "MONDO_0035133", "parentIds": ["MONDO_0100545", "MONDO_0015159", "MONDO_0002320"], "name": "PHIP-related 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"MONDO_0036501", "parentIds": ["MONDO_0004992"], "name": "refractory malignant neoplasm"} {"id": "MONDO_0036511", "parentIds": ["MONDO_0002730", "MONDO_0002367", "EFO_1000654"], "name": "childhood malignant kidney neoplasm"} {"id": "MONDO_0036591", "parentIds": ["EFO_0003850", "MONDO_0002816"], "name": "adrenal cortex neoplasm"} {"id": "MONDO_0036688", "parentIds": ["MONDO_0003061"], "name": "rhabdomyoma"} -{"id": "MONDO_0036696", "parentIds": ["EFO_0009002", "EFO_0008549", "MONDO_0002334"], "name": "spleen neoplasm"} -{"id": "MONDO_0036870", "parentIds": ["EFO_0004264", "MONDO_0024296", "EFO_0007352"], "name": "lymphatic vessel neoplasm"} +{"id": "MONDO_0036696", "parentIds": ["EFO_0009002", "MONDO_0002334"], "name": "spleen neoplasm"} +{"id": "MONDO_0036870", "parentIds": ["EFO_0004264", "MONDO_0002334", "MONDO_0024296", "EFO_0007352"], "name": "lymphatic vessel neoplasm"} +{"id": "MONDO_0036915", "parentIds": ["EFO_1000116", "MONDO_0036976", "MONDO_0003756"], "name": "benign ovarian 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"name": "acute papillary necrosis"} +{"id": "MONDO_0041366", "parentIds": ["MONDO_0004777", "EFO_0007261"], "name": "acute epiglottitis"} {"id": "MONDO_0041447", "parentIds": ["MONDO_0024880"], "name": "metastatic malignant neoplasm in the colon"} +{"id": "MONDO_0041448", "parentIds": ["MONDO_0021063", "MONDO_0024880"], "name": "metastasis from malignant tumor of colon"} {"id": "MONDO_0041806", "parentIds": ["MONDO_0018076"], "name": "drug-resistant tuberculosis"} {"id": "MONDO_0041825", "parentIds": ["MONDO_0021678", "EFO_1000831"], "name": "bacterial meningitis caused by gram-negative bacteria"} {"id": "MONDO_0041850", "parentIds": ["EFO_1001272", "MONDO_0021678"], "name": "pneumonia caused by gram negative bacteria"} +{"id": "MONDO_0041879", "parentIds": ["EFO_0005681", "EFO_0007496"], "name": "staphylococcus aureus pneumonia"} +{"id": "MONDO_0041903", "parentIds": ["DOID_7551", "EFO_1001351"], "name": "gonococcal infection of joint"} {"id": "MONDO_0042233", "parentIds": 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"EFO_1000660"], "name": "familial acanthosis nigricans"} +{"id": "MONDO_0043004", "parentIds": ["EFO_0007344"], "name": "Weil's disease"} {"id": "MONDO_0043009", "parentIds": ["OTAR_0000018"], "name": "hereditary lethal multiple congenital anomalies/dysmorphic syndrome"} +{"id": "MONDO_0043137", "parentIds": ["MONDO_0001149"], "name": "isolated microcephaly"} +{"id": "MONDO_0043195", "parentIds": ["OTAR_0000018"], "name": "Rubinstein Taybi like syndrome"} {"id": "MONDO_0043209", "parentIds": ["MONDO_0004736"], "name": "albinism"} {"id": "MONDO_0043218", "parentIds": ["EFO_0000618", "EFO_0004264"], "name": "neurovascular disorder"} {"id": "MONDO_0043224", "parentIds": ["MONDO_0002679", "EFO_0004718"], "name": "multi-infarct dementia"} {"id": "MONDO_0043237", "parentIds": ["MONDO_0001165", "MONDO_0700057"], "name": "glossodynia"} {"id": "MONDO_0043243", "parentIds": ["MONDO_0021074"], "name": "leukoplakia"} +{"id": "MONDO_0043277", "parentIds": ["MONDO_0700065", "MONDO_0700013"], "name": 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"name": "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold"} {"id": "MONDO_0044319", "parentIds": ["MONDO_0015653", "MONDO_0000508", "MONDO_0015159", "MONDO_0002320"], "name": "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies"} {"id": "MONDO_0044322", "parentIds": ["MONDO_0000508"], "name": "intellectual developmental disorder with neuropsychiatric features"} {"id": "MONDO_0044324", "parentIds": ["MONDO_0000508"], "name": "Al Kaissi syndrome"} @@ -10264,53 +12614,81 @@ {"id": "MONDO_0044327", "parentIds": ["MONDO_0000447"], "name": "polycystic liver disease 4 with or without kidney cysts"} {"id": "MONDO_0044334", "parentIds": ["EFO_0000616"], "name": "connective and soft tissue neoplasm"} {"id": "MONDO_0044335", "parentIds": ["EFO_1000541", "MONDO_0000654"], "name": "benign soft tissue neoplasm"} +{"id": "MONDO_0044336", "parentIds": ["EFO_0000698", "EFO_0000365"], "name": "colorectal signet 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"parentIds": ["MONDO_0044200"], "name": "severe combined immunodeficiency due to LAT deficiency"} +{"id": "MONDO_0044723", "parentIds": ["MONDO_0017359"], "name": "3-methylglutaconic aciduria type 8"} {"id": "MONDO_0044724", "parentIds": ["MONDO_0017359"], "name": "3-methylglutaconic aciduria type 9"} -{"id": "MONDO_0044725", "parentIds": ["MONDO_0021094"], "name": "combined immunodeficiency due to GINS1 deficiency"} +{"id": "MONDO_0044725", "parentIds": ["MONDO_0015131"], "name": "combined immunodeficiency due to GINS1 deficiency"} {"id": "MONDO_0044726", "parentIds": ["MONDO_0015962", "MONDO_0017764", "MONDO_0024237"], "name": "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"} {"id": "MONDO_0044727", "parentIds": ["EFO_0002618", "EFO_1000219"], "name": "pancreatic carcinoma with mixed differentiation"} {"id": "MONDO_0044738", "parentIds": ["MONDO_0015159"], "name": "Gabriele de Vries syndrome"} +{"id": "MONDO_0044742", "parentIds": ["EFO_1000017", 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["EFO_1000157", "MONDO_0000612", "EFO_1001938"], "name": "central nervous system non-hodgkin lymphoma"} {"id": "MONDO_0044889", "parentIds": ["EFO_0000403"], "name": "high grade B-cell lymphoma"} -{"id": "MONDO_0044903", "parentIds": ["MONDO_0003225"], "name": "myelofibrosis"} +{"id": "MONDO_0044903", "parentIds": ["EFO_0002428"], "name": "myelofibrosis"} +{"id": "MONDO_0044906", "parentIds": ["MONDO_0003822", "MONDO_0004041", "MONDO_0000384"], "name": "bladder urothelial papilloma"} +{"id": "MONDO_0044907", "parentIds": ["EFO_0000707", "MONDO_0024879"], "name": "metastatic squamous cell carcinoma"} +{"id": "MONDO_0044912", "parentIds": ["MONDO_0003544", "MONDO_0024880"], "name": "metastatic malignant neoplasm in the spinal cord"} +{"id": "MONDO_0044913", "parentIds": ["MONDO_0002236", "MONDO_0024880"], "name": "metastatic malignant neoplasm in the eye"} {"id": "MONDO_0044915", "parentIds": ["MONDO_0000521", "EFO_1000210"], "name": "salivary duct carcinoma"} {"id": "MONDO_0044916", "parentIds": ["EFO_1000654", "EFO_0005701"], "name": "extrarenal rhabdoid tumor"} {"id": "MONDO_0044917", "parentIds": ["MONDO_0015760", "MONDO_0000873", "MONDO_0003537"], "name": "T-lymphoblastic lymphoma"} {"id": "MONDO_0044919", "parentIds": ["MONDO_0003719", "MONDO_0002367"], "name": "malignant renal pelvis neoplasm"} +{"id": "MONDO_0044923", "parentIds": ["EFO_0000222"], "name": "acute myeloid leukemia with mutated NPM1"} {"id": "MONDO_0044925", "parentIds": ["EFO_0005570", "MONDO_0023644", "EFO_1000218"], "name": "oral cavity carcinoma"} {"id": "MONDO_0044926", "parentIds": ["MONDO_0002038", "EFO_1001931", "MONDO_0021345"], "name": "oropharyngeal carcinoma"} {"id": "MONDO_0044937", "parentIds": ["EFO_1000657", "EFO_1001951", "MONDO_0024476"], "name": "rectal carcinoma"} +{"id": "MONDO_0044956", "parentIds": ["MONDO_0003036", "MONDO_0000380"], "name": "paranasal sinus mucoepidermoid carcinoma"} {"id": "MONDO_0044964", "parentIds": ["MONDO_0044925", "MONDO_0003036"], "name": "oral cavity mucoepidermoid carcinoma"} {"id": "MONDO_0044970", "parentIds": ["OTAR_0000018"], "name": "mitochondrial disease"} {"id": "MONDO_0044972", "parentIds": ["MONDO_0004805"], "name": "eosinophil disorder"} @@ -10332,8 +12710,8 @@ {"id": "MONDO_0045015", "parentIds": ["MONDO_0037792"], "name": "carbohydrate transport disease"} {"id": "MONDO_0045016", "parentIds": ["MONDO_0045008"], "name": "cholesterol catabolic process disease"} {"id": "MONDO_0045017", "parentIds": ["MONDO_0019240", "MONDO_0045008"], "name": "cholesterol biosynthetic process disease"} -{"id": "MONDO_0045018", "parentIds": ["MONDO_0037871"], "name": "creatine biosynthetic process disease"} -{"id": "MONDO_0045020", "parentIds": ["MONDO_0037871"], "name": "glycine metabolism disease"} +{"id": "MONDO_0045018", "parentIds": ["MONDO_0037871", "MONDO_0045022"], "name": "creatine biosynthetic process disease"} +{"id": "MONDO_0045020", "parentIds": ["MONDO_0037871", "MONDO_0045022"], "name": "glycine metabolism disease"} {"id": "MONDO_0045022", "parentIds": ["EFO_0000589"], "name": "disorder of organic acid metabolism"} {"id": "MONDO_0045023", "parentIds": ["MONDO_0015898", "EFO_1000639"], "name": "acquired adrenogenital syndrome"} {"id": "MONDO_0045024", "parentIds": [], "name": "cancer or benign tumor"} @@ -10342,11 +12720,15 @@ {"id": "MONDO_0045043", "parentIds": ["MONDO_0045044"], "name": "disorder of uterine broad ligament"} {"id": "MONDO_0045044", "parentIds": ["EFO_0009676"], "name": "ligament disorder"} {"id": "MONDO_0045046", "parentIds": ["EFO_1000627", "MONDO_0019052"], "name": "inherited thyroid metabolism disease"} +{"id": "MONDO_0045047", "parentIds": ["MONDO_0019338", "EFO_0000618"], "name": "neurosarcoidosis"} {"id": "MONDO_0045048", "parentIds": ["MONDO_0024664"], "name": "toxemia of pregnancy"} {"id": "MONDO_0045050", "parentIds": ["MONDO_0005129"], "name": "nuclear cataract"} +{"id": "MONDO_0045051", "parentIds": ["MONDO_0005129"], "name": "cortical cataract"} {"id": "MONDO_0045054", "parentIds": ["MONDO_0045024"], "name": "cancer-related condition"} {"id": "MONDO_0045056", "parentIds": ["MONDO_0016642"], "name": "grade II meningioma"} {"id": "MONDO_0045058", "parentIds": ["MONDO_0017611"], "name": "ACTH-producing pituitary gland neoplasm"} +{"id": "MONDO_0045059", "parentIds": ["EFO_0000305", "EFO_1000210"], "name": "cribriform carcinoma of breast"} +{"id": "MONDO_0045060", "parentIds": ["EFO_0000432", "MONDO_0045059"], "name": "intraductal cribriform breast adenocarcinoma"} {"id": "MONDO_0045063", "parentIds": ["MONDO_0003175", "EFO_1000344"], "name": "major salivary gland adenoid cystic carcinoma"} {"id": "MONDO_0045068", "parentIds": ["EFO_1000379", "MONDO_0003175"], "name": "minor salivary gland adenoid cystic carcinoma"} {"id": "MONDO_0045069", "parentIds": ["MONDO_0000521", "MONDO_0021316"], "name": "minor salivary gland carcinoma"} @@ -10356,17 +12738,22 @@ {"id": "MONDO_0054559", "parentIds": ["MONDO_0017750", "EFO_0005546"], "name": "congenital disorder of glycosylation, type IIq"} {"id": "MONDO_0054565", "parentIds": ["MONDO_0018770"], "name": "short-rib thoracic dysplasia 17 with or without polydactyly"} {"id": "MONDO_0054591", "parentIds": ["EFO_0010642", "MONDO_0100080"], "name": "Stankiewicz-Isidor syndrome"} +{"id": "MONDO_0054615", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 18"} {"id": "MONDO_0054636", "parentIds": ["MONDO_0015159"], "name": "Skraban-Deardorff syndrome"} {"id": "MONDO_0054691", "parentIds": ["MONDO_0015517"], "name": "immunodeficiency, common variable, 14"} {"id": "MONDO_0054695", "parentIds": ["MONDO_0018947"], "name": "myopathy, centronuclear, 6, with fiber-type disproportion"} +{"id": "MONDO_0054696", "parentIds": ["MONDO_0021094"], "name": "immunodeficiency 53"} {"id": "MONDO_0054699", "parentIds": ["MONDO_0009726"], "name": "proteasome-associated autoinflammatory syndrome 3"} {"id": "MONDO_0054700", "parentIds": ["MONDO_0009726"], "name": "proteasome-associated autoinflammatory syndrome 2"} {"id": "MONDO_0054701", "parentIds": ["MONDO_0012455"], "name": "Kleefstra syndrome 2"} +{"id": "MONDO_0054723", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 19"} +{"id": "MONDO_0054724", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 20"} {"id": "MONDO_0054726", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 22"} {"id": "MONDO_0054727", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 23"} {"id": "MONDO_0054728", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 24"} {"id": "MONDO_0054729", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 25"} {"id": "MONDO_0054730", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 26"} +{"id": "MONDO_0054731", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 27"} {"id": "MONDO_0054732", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 28"} {"id": "MONDO_0054733", "parentIds": ["EFO_0000279"], "name": "spermatogenic failure 29"} {"id": "MONDO_0054741", "parentIds": ["MONDO_0000732"], "name": "combined oxidative phosphorylation deficiency 34"} @@ -10395,13 +12782,18 @@ {"id": "MONDO_0056802", "parentIds": ["MONDO_0056799"], "name": "synovial bursa disorder"} {"id": "MONDO_0056803", "parentIds": ["EFO_0009556"], "name": "sulfur metabolism disease"} {"id": "MONDO_0056804", "parentIds": ["MONDO_0000628", "EFO_0002431"], "name": "benign neoplasm of peripheral nervous system"} +{"id": "MONDO_0056805", "parentIds": ["MONDO_0003250"], "name": "benign peripheral nerve granular cell tumor"} {"id": "MONDO_0056806", "parentIds": ["EFO_0000708", "EFO_0003060"], "name": "non-small cell squamous lung carcinoma"} {"id": "MONDO_0056815", "parentIds": ["MONDO_0018534", "EFO_1000073"], "name": "liver adenosquamous carcinoma"} +{"id": "MONDO_0056816", "parentIds": ["MONDO_0002120", "EFO_0002921"], "name": "vulvar neuroendocrine carcinoma"} +{"id": "MONDO_0056817", "parentIds": ["MONDO_0018515", "EFO_1000190"], "name": "rectal adenosquamous carcinoma"} +{"id": "MONDO_0056818", "parentIds": ["EFO_1000073", "MONDO_0002529"], "name": "skin adenosquamous carcinoma"} {"id": "MONDO_0056819", "parentIds": ["MONDO_0056820", "MONDO_0002038"], "name": "nasal cavity and paranasal sinus carcinoma"} {"id": "MONDO_0056820", "parentIds": ["EFO_0005950"], "name": "nasal cavity and paranasal sinus neoplasm"} {"id": "MONDO_0060457", "parentIds": ["EFO_0000508"], "name": "autoinflammation with arthritis and dyskeratosis"} {"id": "MONDO_0060490", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"} {"id": "MONDO_0060491", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with involuntary movements"} +{"id": "MONDO_0060496", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with hypotonia, neuropathy, and deafness"} {"id": "MONDO_0060502", "parentIds": ["MONDO_0002320", "MONDO_0015159", "MONDO_0100500"], "name": "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies"} {"id": "MONDO_0060507", "parentIds": ["EFO_0000508"], "name": "retinal dystrophy with or without macular staphyloma"} {"id": "MONDO_0060510", "parentIds": ["EFO_0000508"], "name": "Cohen-Gibson syndrome"} @@ -10410,9 +12802,9 @@ {"id": "MONDO_0060533", "parentIds": ["EFO_0000508"], "name": "microcephaly, short stature, and limb abnormalities"} {"id": "MONDO_0060549", "parentIds": ["EFO_0000508"], "name": "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"} {"id": "MONDO_0060551", "parentIds": ["EFO_0000508"], "name": "cerebellar atrophy, developmental delay, and seizures"} -{"id": "MONDO_0060554", "parentIds": ["MONDO_0020831", "MONDO_0800075"], "name": "vertebral, cardiac, renal, and limb defects syndrome 1"} -{"id": "MONDO_0060555", "parentIds": ["MONDO_0020831", "MONDO_0800075"], "name": "vertebral, cardiac, renal, and limb defects syndrome 2"} -{"id": "MONDO_0060556", "parentIds": ["MONDO_0800086", "MONDO_0019755", "EFO_1000017"], "name": "joint laxity, short stature, and myopia"} +{"id": "MONDO_0060554", "parentIds": ["MONDO_0020831"], "name": "vertebral, cardiac, renal, and limb defects syndrome 1"} +{"id": "MONDO_0060555", "parentIds": ["MONDO_0020831"], "name": "vertebral, cardiac, renal, and limb defects syndrome 2"} +{"id": "MONDO_0060556", "parentIds": ["MONDO_0019755", "EFO_1000017"], "name": "joint laxity, short stature, and myopia"} {"id": "MONDO_0060577", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with microcephaly, ataxia, and seizures"} {"id": "MONDO_0060578", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"} {"id": "MONDO_0060582", "parentIds": ["EFO_1000017", "MONDO_0044970"], "name": "auditory neuropathy-optic atrophy syndrome"} @@ -10429,12 +12821,12 @@ {"id": "MONDO_0060641", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with or without seizures and gait abnormalities"} {"id": "MONDO_0060642", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features"} {"id": "MONDO_0060650", "parentIds": ["MONDO_0018998"], "name": "Leber congenital amaurosis with early-onset deafness"} -{"id": "MONDO_0060663", "parentIds": ["EFO_0000508", "MONDO_0000119"], "name": "congenital heart defects, multiple types, 5"} +{"id": "MONDO_0060663", "parentIds": ["MONDO_0000119", "MONDO_0100541", "MONDO_0100547"], "name": "congenital heart defects, multiple types, 5"} {"id": "MONDO_0060664", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"} {"id": "MONDO_0060666", "parentIds": ["EFO_0000508"], "name": "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"} {"id": "MONDO_0060702", "parentIds": ["MONDO_0100510"], "name": "spondyloepimetaphyseal dysplasia, di rocco type"} {"id": "MONDO_0060704", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures"} -{"id": "MONDO_0060707", "parentIds": ["MONDO_0000508", "EFO_0000508"], "name": "Ververi-Brady syndrome"} +{"id": "MONDO_0060707", "parentIds": ["MONDO_0100545", "MONDO_0000508"], "name": "Ververi-Brady syndrome"} {"id": "MONDO_0060711", "parentIds": ["EFO_0000508"], "name": "Jaberi-Elahi syndrome"} {"id": "MONDO_0060713", "parentIds": ["EFO_0000508"], "name": "deafness, congenital heart defects, and posterior embryotoxon"} {"id": "MONDO_0060720", "parentIds": ["MONDO_0015286"], "name": "congenital disorder of glycosylation with defective fucosylation"} @@ -10445,43 +12837,59 @@ {"id": "MONDO_0060752", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with spasticity and poor growth"} {"id": "MONDO_0060758", "parentIds": ["EFO_0009059"], "name": "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"} {"id": "MONDO_0060759", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"} -{"id": "MONDO_0060760", "parentIds": ["EFO_0000508", "MONDO_0000508"], "name": "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"} +{"id": "MONDO_0060760", "parentIds": ["MONDO_0100545", "MONDO_0000508"], "name": "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"} {"id": "MONDO_0060761", "parentIds": ["MONDO_0100500"], "name": "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum"} -{"id": "MONDO_0060763", "parentIds": ["MONDO_0000508", "MONDO_0700120"], "name": "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"} +{"id": "MONDO_0060763", "parentIds": ["MONDO_0100545", "MONDO_0000508", "MONDO_0700120"], "name": "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"} {"id": "MONDO_0060765", "parentIds": ["EFO_0000662"], "name": "fibroepithelial polyp"} {"id": "MONDO_0060766", "parentIds": ["MONDO_0021398", "EFO_0009660", "MONDO_0024292"], "name": "anal polyp"} +{"id": "MONDO_0060768", "parentIds": ["MONDO_0003396", "MONDO_0060765"], "name": "gingival fibroepithelial polyp"} +{"id": "MONDO_0060774", "parentIds": ["MONDO_0021394", "MONDO_0060765"], "name": "vaginal fibroepithelial polyp"} +{"id": "MONDO_0060777", "parentIds": ["EFO_0009475", "MONDO_0060765"], "name": "cervical fibroepithelial polyp"} +{"id": "MONDO_0060778", "parentIds": ["MONDO_0001083"], "name": "adult Fanconi syndrome"} {"id": "MONDO_0060779", "parentIds": ["MONDO_0001083"], "name": "acquired Fanconi syndrome"} +{"id": "MONDO_0060782", "parentIds": ["EFO_0005803", "MONDO_0021074"], "name": "premalignant hematological system disease"} {"id": "MONDO_0100000", "parentIds": ["MONDO_0020119"], "name": "MED12-related intellectual disability syndrome"} -{"id": "MONDO_0100009", "parentIds": ["EFO_0005207"], "name": "structural congenital heart disease, multiple types - GATA4"} +{"id": "MONDO_0100009", "parentIds": ["EFO_0005207", "MONDO_0100547"], "name": "structural congenital heart disease, multiple types - GATA4"} +{"id": "MONDO_0100014", "parentIds": ["MONDO_0000587", "EFO_0003839", "MONDO_0002977"], "name": "autoimmune retinopathy"} {"id": "MONDO_0100016", "parentIds": ["MONDO_0000476"], "name": "early-onset generalized dystonia"} {"id": "MONDO_0100017", "parentIds": ["EFO_1000697", "MONDO_0019270"], "name": "pityriasis rubra pilaris"} +{"id": "MONDO_0100018", "parentIds": ["MONDO_0100017"], "name": "adult onset pityriasis rubra pilaris"} {"id": "MONDO_0100022", "parentIds": ["MONDO_0015650"], "name": "neonatal/infantile epilepsy syndrome"} +{"id": "MONDO_0100024", "parentIds": ["MONDO_0100207"], "name": "self-limited familial infantile epilepsy"} +{"id": "MONDO_0100025", "parentIds": ["MONDO_0100022"], "name": "epilepsy of infancy with migrating focal seizures"} +{"id": "MONDO_0100028", "parentIds": ["EFO_0000474"], "name": "immune epilepsy"} +{"id": "MONDO_0100029", "parentIds": ["MONDO_0100028"], "name": "antibody mediated epilepsy"} {"id": "MONDO_0100030", "parentIds": ["MONDO_0015650"], "name": "adolescent/adult-onset epilepsy syndrome"} {"id": "MONDO_0100033", "parentIds": ["EFO_0000474"], "name": "metabolic epilepsy"} {"id": "MONDO_0100035", "parentIds": ["EFO_0000474"], "name": "structural epilepsy"} {"id": "MONDO_0100036", "parentIds": ["EFO_0000474"], "name": "variable age onset epilepsy"} +{"id": "MONDO_0100037", "parentIds": ["MONDO_0100017"], "name": "juvenile onset pityriasis rubra pilaris"} {"id": "MONDO_0100038", "parentIds": ["EFO_0010642"], "name": "complex neurodevelopmental disorder"} {"id": "MONDO_0100039", "parentIds": ["EFO_0000508"], "name": "CDKL5 disorder"} -{"id": "MONDO_0100040", "parentIds": ["MONDO_0015653", "MONDO_0000594", "MONDO_0017656", "MONDO_0100500"], "name": "FOXG1 disorder"} +{"id": "MONDO_0100040", "parentIds": ["MONDO_0015653", "MONDO_0000594", "MONDO_0100500"], "name": "FOXG1 disorder"} +{"id": "MONDO_0100052", "parentIds": ["MONDO_0016227"], "name": "acetazolamide-responsive hereditary episodic ataxia"} {"id": "MONDO_0100053", "parentIds": ["EFO_1002003"], "name": "anaphylaxis"} {"id": "MONDO_0100054", "parentIds": ["MONDO_0100053"], "name": "idiopathic anaphylaxis"} {"id": "MONDO_0100058", "parentIds": ["MONDO_0019242"], "name": "hypervalinemia and hyperleucine-isoleucinemia"} -{"id": "MONDO_0100061", "parentIds": ["EFO_0003100"], "name": "PRPS1 deficiency disorder"} +{"id": "MONDO_0100061", "parentIds": ["MONDO_0020127"], "name": "PRPS1 deficiency disorder"} {"id": "MONDO_0100062", "parentIds": ["MONDO_0100022", "MONDO_0100038", "MONDO_0100500", "EFO_0005917"], "name": "developmental and epileptic encephalopathy"} {"id": "MONDO_0100064", "parentIds": ["MONDO_0019219"], "name": "tyrosine hydroxylase deficiency"} {"id": "MONDO_0100069", "parentIds": ["OTAR_0000018"], "name": "hearing impairment and infertile male syndrome"} {"id": "MONDO_0100070", "parentIds": ["EFO_0000618", "EFO_0001379"], "name": "neuroendocrine disorder"} +{"id": "MONDO_0100076", "parentIds": ["MONDO_0000726"], "name": "juvenile idiopathic scoliosis"} {"id": "MONDO_0100080", "parentIds": ["EFO_0010285", "EFO_0003777"], "name": "cardioectodermal syndrome"} {"id": "MONDO_0100083", "parentIds": ["MONDO_0011071"], "name": "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1"} -{"id": "MONDO_0100084", "parentIds": ["MONDO_0002320", "MONDO_0016139", "MONDO_0019952"], "name": "alpha-actinopathy"} +{"id": "MONDO_0100084", "parentIds": ["MONDO_0002320", "MONDO_0100545", "MONDO_0016139", "MONDO_0019952"], "name": "alpha-actinopathy"} {"id": "MONDO_0100087", "parentIds": ["MONDO_0004975"], "name": "familial Alzheimer disease"} -{"id": "MONDO_0100089", "parentIds": ["EFO_0005803"], "name": "GATA1-Related X-Linked Cytopenia"} -{"id": "MONDO_0100091", "parentIds": ["MONDO_0024308"], "name": "inherited pseudoxanthoma elasticum"} +{"id": "MONDO_0100089", "parentIds": ["EFO_0000508", "EFO_0005803"], "name": "GATA1-Related X-Linked Cytopenia"} +{"id": "MONDO_0100091", "parentIds": ["EFO_0000508", "MONDO_0024308"], "name": "inherited pseudoxanthoma elasticum"} {"id": "MONDO_0100095", "parentIds": ["MONDO_0024237", "EFO_1000017"], "name": "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures"} {"id": "MONDO_0100096", "parentIds": ["MONDO_0020753"], "name": "COVID-19"} {"id": "MONDO_0100100", "parentIds": ["MONDO_0019952"], "name": "SELENON-related myopathy"} {"id": "MONDO_0100101", "parentIds": ["MONDO_0008824"], "name": "fetal akinesia deformation sequence 1"} -{"id": "MONDO_0100108", "parentIds": ["MONDO_0002320", "MONDO_0019952", "MONDO_0017303"], "name": "TPM3-related myopathy"} +{"id": "MONDO_0100108", "parentIds": ["MONDO_0002320", "MONDO_0100545", "MONDO_0019952", "MONDO_0017303"], "name": "TPM3-related myopathy"} +{"id": "MONDO_0100110", "parentIds": ["EFO_0003103", "EFO_0003086", "MONDO_0043479"], "name": "adenovirus renal infection"} +{"id": "MONDO_0100111", "parentIds": ["EFO_0000508"], "name": "focal segmental glomerulosclerosis and neurodevelopmental syndrome"} {"id": "MONDO_0100112", "parentIds": ["MONDO_0100372", "MONDO_0017986", "MONDO_0019233"], "name": "acyl-CoA binding domain containing protein 5 deficiency"} {"id": "MONDO_0100114", "parentIds": ["EFO_0001365"], "name": "dry age related macular degeneration"} {"id": "MONDO_0100116", "parentIds": ["MONDO_0020753", "EFO_0000684"], "name": "Middle East respiratory syndrome"} @@ -10490,59 +12898,75 @@ {"id": "MONDO_0100121", "parentIds": ["EFO_1000017", "MONDO_0019952"], "name": "SCN4A-related myopathy, autosomal recessive"} {"id": "MONDO_0100122", "parentIds": ["MONDO_0019248"], "name": "GNPTAB-mucolipidosis"} {"id": "MONDO_0100124", "parentIds": ["MONDO_0020119"], "name": "NAA10-related syndrome"} -{"id": "MONDO_0100126", "parentIds": ["MONDO_0017356", "MONDO_0017355"], "name": "P5CS deficiency"} +{"id": "MONDO_0100126", "parentIds": ["MONDO_0017355", "MONDO_0017356"], "name": "P5CS deficiency"} {"id": "MONDO_0100130", "parentIds": ["EFO_1000637"], "name": "adult acute respiratory distress syndrome"} {"id": "MONDO_0100131", "parentIds": ["EFO_1000637"], "name": "pediatric acute respiratory distress syndrome"} +{"id": "MONDO_0100132", "parentIds": ["MONDO_0001487", "MONDO_0003549"], "name": "intrahepatic bile duct adenosquamous carcinoma"} {"id": "MONDO_0100133", "parentIds": ["MONDO_0000066"], "name": "mitochondrial complex I deficiency"} +{"id": "MONDO_0100135", "parentIds": ["MONDO_0100062"], "name": "Dravet syndrome"} {"id": "MONDO_0100137", "parentIds": ["MONDO_0019303"], "name": "telomere syndrome"} +{"id": "MONDO_0100138", "parentIds": ["MONDO_0020605", "MONDO_0002320", "MONDO_0009637", "MONDO_0100546"], "name": "X-linked recessive mitochondrial myopathy"} {"id": "MONDO_0100146", "parentIds": ["MONDO_0020119"], "name": "ATP6AP2-related disorder"} -{"id": "MONDO_0100147", "parentIds": ["MONDO_0000508"], "name": "SATB2 associated disorder"} +{"id": "MONDO_0100147", "parentIds": ["MONDO_0000508", "MONDO_0100545"], "name": "SATB2 associated disorder"} {"id": "MONDO_0100148", "parentIds": ["MONDO_0000425", "MONDO_0100038", "MONDO_0100500"], "name": "X-linked complex neurodevelopmental disorder"} {"id": "MONDO_0100150", "parentIds": ["MONDO_0019952"], "name": "RYR1-related myopathy"} +{"id": "MONDO_0100151", "parentIds": ["MONDO_0016239", "EFO_1000017"], "name": "nephropathic cystinosis"} {"id": "MONDO_0100152", "parentIds": ["MONDO_0015780"], "name": "DKC1-related disorder"} +{"id": 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"MONDO_0100200", "parentIds": ["MONDO_0001149"], "name": "microcephaly with intellectual disability"} {"id": "MONDO_0100207", "parentIds": ["EFO_0000474"], "name": "infantile-onset epilepsy"} +{"id": "MONDO_0100209", "parentIds": ["EFO_0000508"], "name": "X inactivation, familial skewed"} {"id": "MONDO_0100210", "parentIds": ["EFO_0000508", "MONDO_0015892"], "name": "growth hormone insensitivity syndrome with immune dysregulation"} -{"id": "MONDO_0100211", "parentIds": ["MONDO_0100210", "EFO_1000017", "MONDO_0015823"], "name": "growth hormone insensitivity with immune dysregulation 1, autosomal recessive"} -{"id": "MONDO_0100212", "parentIds": ["MONDO_0017263"], "name": "IFAP syndrome"} -{"id": "MONDO_0100213", "parentIds": ["MONDO_0020605", "MONDO_0017269", "MONDO_0100212"], "name": "IFAP syndrome with or without BRESHECK syndrome"} +{"id": "MONDO_0100211", "parentIds": ["EFO_0000540", "MONDO_0100210", "EFO_1000017"], "name": "growth hormone insensitivity with immune dysregulation 1, 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"parentIds": ["MONDO_0019053"], "name": "peroxisomal single enzyme/protein defect"} {"id": "MONDO_0100258", "parentIds": ["MONDO_0100277"], "name": "phytanoyl-CoA hydroxylase deficiency"} {"id": "MONDO_0100259", "parentIds": ["MONDO_0019609"], "name": "peroxisome biogenesis disorder due to PEX1 defect"} @@ -10566,17 +12990,26 @@ {"id": "MONDO_0100277", "parentIds": ["MONDO_0100257"], "name": "disorder of peroxisomal alpha oxidation"} {"id": "MONDO_0100278", "parentIds": ["MONDO_0017703"], "name": "alanine glyoxylate aminotransferase deficiency"} {"id": "MONDO_0100279", "parentIds": ["MONDO_0019609"], "name": "peroxisome biogenesis disorder due to PEX11B defect"} -{"id": "MONDO_0100283", "parentIds": ["MONDO_0020022", "MONDO_0015330"], "name": "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"} -{"id": "MONDO_0100284", "parentIds": ["MONDO_0000425", "EFO_0005548"], "name": "X-linked intellectual disability"} +{"id": "MONDO_0100283", "parentIds": ["MONDO_0020022"], "name": "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"} +{"id": "MONDO_0100284", "parentIds": ["MONDO_0100545", "MONDO_0000425", "EFO_0005548"], "name": "X-linked intellectual disability"} +{"id": "MONDO_0100286", "parentIds": ["EFO_1001413", "MONDO_0002465"], "name": "respiratory syncytial virus bronchiolitis"} +{"id": "MONDO_0100288", "parentIds": ["MONDO_0020248"], "name": "enhanced S-cone syndrome"} {"id": "MONDO_0100289", "parentIds": ["MONDO_0020248"], "name": "Goldmann-Favre syndrome"} -{"id": "MONDO_0100294", "parentIds": ["MONDO_0031230", "MONDO_0016805"], "name": "mitochondrial complex II deficiency, nuclear type 1"} +{"id": "MONDO_0100290", "parentIds": ["MONDO_0021400", "MONDO_0015524"], "name": "colon serrated polyposis"} +{"id": "MONDO_0100291", "parentIds": ["EFO_0000209"], "name": "early T cell progenitor acute lymphoblastic leukemia"} +{"id": "MONDO_0100294", "parentIds": ["MONDO_0031230"], "name": "mitochondrial complex II deficiency, nuclear type 1"} {"id": "MONDO_0100296", "parentIds": ["MONDO_0031421"], "name": "Olmsted syndrome 1"} +{"id": "MONDO_0100297", "parentIds": ["MONDO_0031439"], "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1"} {"id": "MONDO_0100298", "parentIds": ["MONDO_0019755"], "name": "abdominal wall malformation"} +{"id": "MONDO_0100302", "parentIds": ["MONDO_0007872"], "name": "LADD syndrome 1"} +{"id": "MONDO_0100303", "parentIds": ["MONDO_0011870"], "name": "ichthyosis, annular epidermolytic 1"} {"id": "MONDO_0100306", "parentIds": ["MONDO_0100257"], "name": "disorder of defective peroxisome oxidative status"} {"id": "MONDO_0100308", "parentIds": ["EFO_0000618"], "name": "atactic disorder"} -{"id": "MONDO_0100310", "parentIds": ["EFO_0009671", "MONDO_0000437"], "name": "hereditary cerebellar ataxia"} +{"id": "MONDO_0100310", "parentIds": ["MONDO_0022687", "EFO_0009671", "MONDO_0000437"], "name": "hereditary cerebellar ataxia"} +{"id": "MONDO_0100311", "parentIds": ["MONDO_0100308"], "name": "sensory ataxia"} {"id": "MONDO_0100314", "parentIds": ["MONDO_0002412"], "name": "GYG1-related disorder of glycogen metabolism"} -{"id": "MONDO_0100317", "parentIds": ["EFO_0000508"], "name": "deficiency of adenosine deaminase 2"} +{"id": "MONDO_0100316", "parentIds": ["MONDO_0019171"], "name": "long QT syndrome 1"} +{"id": "MONDO_0100317", "parentIds": ["MONDO_0957408", "MONDO_0023603"], "name": "deficiency of adenosine deaminase 2"} {"id": "MONDO_0100320", "parentIds": ["MONDO_0021669"], "name": "post-COVID-19 disorder"} {"id": "MONDO_0100322", "parentIds": ["MONDO_0019234"], "name": "non-Zellweger spectrum disorder"} {"id": "MONDO_0100323", "parentIds": ["MONDO_0100191", "MONDO_0018638"], "name": "inherited pseudohypoaldosteronism"} @@ -10589,13 +13022,16 @@ {"id": "MONDO_0100337", "parentIds": ["EFO_0000508"], "name": "SEC61A1 deficiency"} {"id": "MONDO_0100339", "parentIds": ["MONDO_0020046"], "name": "Friedreich ataxia"} {"id": "MONDO_0100342", "parentIds": ["MONDO_0020665", "EFO_0005543", "EFO_0000326"], "name": "malignant glioma"} -{"id": "MONDO_0100343", "parentIds": ["MONDO_0015231"], "name": "antenatal Bartter syndrome"} +{"id": "MONDO_0100344", "parentIds": ["MONDO_0015231"], "name": "Bartter disease type 1"} {"id": "MONDO_0100348", "parentIds": ["EFO_1000017", "MONDO_0100500"], "name": "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"} -{"id": "MONDO_0100350", "parentIds": ["MONDO_0000075"], "name": "neuronopathy, distal hereditary motor, type 5"} +{"id": "MONDO_0100350", "parentIds": ["MONDO_0015362"], "name": "neuronopathy, distal hereditary motor, type 5"} {"id": "MONDO_0100352", "parentIds": ["MONDO_0044202"], "name": "episodic kinesigenic dyskinesia 1"} +{"id": "MONDO_0100353", "parentIds": ["EFO_0007474"], "name": "HHV-7 infectious disease"} {"id": "MONDO_0100354", "parentIds": ["MONDO_0025986"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 1"} {"id": "MONDO_0100358", "parentIds": ["MONDO_0019287"], "name": "ectodermal dysplasia WNT10A related"} {"id": "MONDO_0100365", "parentIds": ["MONDO_0019052"], "name": "mucopolysaccharidosis or mucopolysaccharidosis-like disorder"} +{"id": "MONDO_0100368", "parentIds": ["EFO_1000017", "MONDO_0019118"], "name": "RPE65-related recessive retinopathy"} +{"id": "MONDO_0100370", "parentIds": ["EFO_0004197"], "name": "acute hepatitis B virus infection"} {"id": "MONDO_0100372", "parentIds": ["MONDO_0100257"], "name": "disorder of peroxisomal transporter"} {"id": "MONDO_0100373", "parentIds": ["EFO_0000222"], "name": "acute myeloid leukemia, inv(16)(p13.1;q22)"} {"id": "MONDO_0100374", "parentIds": ["EFO_0000222"], "name": "acute myeloid leukemia, t(16;16)(p13.1;q22)"} @@ -10649,40 +13085,64 @@ {"id": "MONDO_0100423", "parentIds": ["EFO_0000222"], "name": "acute myeloid leukemia, PTPN11 gene mutation"} {"id": "MONDO_0100424", "parentIds": ["EFO_0000222"], "name": "acute myeloid leukemia, NRAS gene mutation"} {"id": "MONDO_0100425", "parentIds": ["EFO_0000222"], "name": "acute myeloid leukemia, KRAS gene mutation"} +{"id": "MONDO_0100428", "parentIds": ["MONDO_0024537", "EFO_0003783"], "name": "progressive bulbar palsy of childhood"} {"id": "MONDO_0100431", "parentIds": ["MONDO_0005277"], "name": "migraine without aura"} +{"id": "MONDO_0100433", "parentIds": ["MONDO_0018795"], "name": "ACTB-associated syndromic thrombocytopenia"} +{"id": "MONDO_0100437", "parentIds": ["MONDO_0019118"], "name": "RPGR-related retinopathy"} +{"id": "MONDO_0100441", "parentIds": ["MONDO_0000426", "MONDO_0100454"], "name": "GUCY2D-related dominant retinopathy"} {"id": "MONDO_0100443", "parentIds": ["MONDO_0019118"], "name": "RDH5-related retinopathy"} {"id": "MONDO_0100444", "parentIds": ["MONDO_0019118"], "name": "RLBP1-related retinopathy"} -{"id": "MONDO_0100449", "parentIds": ["MONDO_0019118", "MONDO_0020046"], "name": "FLVCR1-related retinopathy with or without ataxia"} +{"id": "MONDO_0100449", "parentIds": ["MONDO_0019118", "MONDO_0020046", "MONDO_0004884"], "name": "FLVCR1-related retinopathy with or without ataxia"} +{"id": "MONDO_0100451", "parentIds": ["EFO_0003900"], "name": "CEP290-related ciliopathy"} +{"id": "MONDO_0100453", "parentIds": ["MONDO_0100454", "EFO_1000017"], "name": "GUCY2D-related recessive retinopathy"} +{"id": "MONDO_0100454", "parentIds": ["MONDO_0019118"], "name": "GUCY2D retinopathy"} {"id": "MONDO_0100455", "parentIds": ["MONDO_0100062", "MONDO_0020070"], "name": "neonatal-onset developmental and epileptic encephalopathy"} {"id": "MONDO_0100463", "parentIds": ["MONDO_0019220"], "name": "methylmalonic aciduria and/or homocystinuria, cblD type"} {"id": "MONDO_0100464", "parentIds": ["EFO_1001380"], "name": "acid sphingomyelinase deficiency"} {"id": "MONDO_0100472", "parentIds": ["MONDO_0018838"], "name": "lissencephaly spectrum disorder with complex brainstem malformation"} {"id": "MONDO_0100473", "parentIds": ["MONDO_0019052"], "name": "disorder of peptide and amine metabolism"} +{"id": "MONDO_0100475", "parentIds": ["MONDO_0007810"], "name": "severe ichthyosis vulgaris"} {"id": "MONDO_0100477", "parentIds": ["MONDO_0100473"], "name": "disorder of methylamine metabolism"} +{"id": "MONDO_0100485", "parentIds": ["MONDO_0100500"], "name": "KCNH1 associated disorder"} +{"id": "MONDO_0100486", "parentIds": ["EFO_0003894"], "name": "adult acne"} {"id": "MONDO_0100493", "parentIds": ["MONDO_0100175", "EFO_1000017"], "name": "autosomal recessive titinopathy"} {"id": "MONDO_0100494", "parentIds": ["MONDO_0100175", "MONDO_0000426"], "name": "autosomal dominant titinopathy"} {"id": "MONDO_0100498", "parentIds": ["MONDO_0019142"], "name": "UROD-related inherited porphyria"} {"id": "MONDO_0100499", "parentIds": ["MONDO_0019042"], "name": "multiple congenital anomalies due to 14q32.2 imprinting defect"} -{"id": "MONDO_0100500", "parentIds": 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(TCF3-PBX1)"} {"id": "MONDO_0700000", "parentIds": ["EFO_1001496"], "name": "ALG9-associated autosomal dominant polycystic kidney disease"} -{"id": "MONDO_0700002", "parentIds": ["EFO_0000618"], "name": "ATP1A3-associated neurological disorder"} +{"id": "MONDO_0700002", "parentIds": ["MONDO_0100545"], "name": "ATP1A3-associated neurological disorder"} {"id": "MONDO_0700003", "parentIds": ["OTAR_0000014"], "name": "obstetric disorder"} {"id": "MONDO_0700008", "parentIds": ["MONDO_0020049"], "name": "chromosome 1 disorder"} {"id": "MONDO_0700009", "parentIds": ["MONDO_0020049"], "name": "chromosome 2 disorder"} @@ -10708,22 +13168,27 @@ {"id": "MONDO_0700029", "parentIds": ["MONDO_0700020", "MONDO_0000762"], "name": "partial duplication of chromosome 13"} {"id": "MONDO_0700031", "parentIds": ["MONDO_0018071"], "name": "mosaic trisomy 18"} {"id": "MONDO_0700034", "parentIds": ["MONDO_0018068"], "name": "mosaic trisomy 13"} +{"id": "MONDO_0700035", "parentIds": ["MONDO_0020639", "MONDO_0700015"], "name": "monosomy chromosome 8"} +{"id": "MONDO_0700041", "parentIds": ["MONDO_0015356"], "name": "neuroblastoma, susceptibility to, 2"} {"id": "MONDO_0700043", "parentIds": ["MONDO_0016930"], "name": "syndrome caused by partial chromosomal duplication of the short arm of chromosome 9"} +{"id": "MONDO_0700044", "parentIds": ["MONDO_0100516", "MONDO_0100500", "MONDO_0100153"], "name": "TUBB2A-related tubulinopathy"} {"id": "MONDO_0700049", "parentIds": ["EFO_0005932"], "name": "infectious disease, non-human animal"} +{"id": "MONDO_0700051", "parentIds": ["MONDO_0043424", "EFO_0001421", "EFO_0003030"], "name": "liver abscess (disease)"} {"id": "MONDO_0700053", "parentIds": ["MONDO_0700049"], "name": "viral infectious disease, non-human animal"} {"id": "MONDO_0700055", "parentIds": ["EFO_0000618"], "name": "KIF1A related neurological disorder"} {"id": "MONDO_0700057", "parentIds": ["EFO_0000618"], "name": "neurological pain disorder"} +{"id": "MONDO_0700060", "parentIds": ["EFO_1000068", "MONDO_0000425"], "name": "leukemia, acute, X-linked"} {"id": "MONDO_0700064", "parentIds": ["MONDO_0019040"], "name": "aneuploidy"} {"id": "MONDO_0700065", "parentIds": ["MONDO_0700064"], "name": "trisomy"} -{"id": "MONDO_0700066", "parentIds": ["MONDO_0016157", "EFO_0004145", "MONDO_0700223"], "name": "myopathy caused by variation in FKRP"} +{"id": "MONDO_0700066", "parentIds": ["EFO_0004145", "MONDO_0700223", "MONDO_0017741"], "name": "myopathy caused by variation in FKRP"} {"id": "MONDO_0700067", "parentIds": ["EFO_0004145", "MONDO_0700223", "MONDO_0016155"], "name": "myopathy caused by variation in FKTN"} -{"id": "MONDO_0700068", "parentIds": ["MONDO_0016182", "EFO_0004145", "MONDO_0700223"], "name": "myopathy caused by variation in POMGNT1"} +{"id": "MONDO_0700068", "parentIds": ["MONDO_0002320", "EFO_0004145", "MONDO_0100545", "MONDO_0700223", "MONDO_0017741"], "name": "myopathy caused by variation in POMGNT1"} {"id": "MONDO_0700069", "parentIds": 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"name": "parneoplastic endocrine syndrome"} +{"id": "MONDO_0700253", "parentIds": ["EFO_0005803", "MONDO_0045054"], "name": "paraneoplastic hematological syndrome"} +{"id": "MONDO_0700254", "parentIds": ["MONDO_0045054"], "name": "paraneoplastic gastrointestinal syndrome"} +{"id": "MONDO_0700255", "parentIds": ["EFO_0009690", "MONDO_0045054"], "name": "paraneoplastic renal syndrome"} +{"id": "MONDO_0700256", "parentIds": ["EFO_0700095", "MONDO_0023603"], "name": "TREX1-related type 1 interferonopathy"} +{"id": "MONDO_0700261", "parentIds": ["EFO_0700095", "MONDO_0023603"], "name": "ADAR-related type 1 interferonopathy"} +{"id": "MONDO_0700262", "parentIds": ["EFO_0700095", "MONDO_0023603"], "name": "IFIH1-related type 1 interferonopathy"} +{"id": "MONDO_0700263", "parentIds": ["EFO_0700095", "MONDO_0023603"], "name": "RNU7-1-related type 1 interferonopathy"} +{"id": "MONDO_0700266", "parentIds": ["EFO_0010285", "MONDO_0045054"], "name": "paraneoplastic cutaneous syndrome"} +{"id": 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"MONDO_1011313", "parentIds": ["EFO_0005932"], "name": "disorder of development or morphogenesis, non-human animal"} {"id": "MONDO_1011317", "parentIds": ["EFO_0005932"], "name": "endocrine system disorder, non-human animal"} {"id": "MONDO_1011319", "parentIds": ["EFO_0005932"], "name": "hematologic disorder, non-human animal"} +{"id": "MONDO_1011336", "parentIds": ["EFO_0005932"], "name": "nervous system disorder, non-human animal"} {"id": "MONDO_1011354", "parentIds": ["EFO_0005932"], "name": "reproductive system disorder, non-human animal"} +{"id": "MONDO_8000001", "parentIds": ["EFO_1000900", "EFO_0005681", "EFO_1001351"], "name": "staphylococcus discitis"} +{"id": "MONDO_8000002", "parentIds": ["EFO_1000900", "EFO_1001351", "EFO_1001318"], "name": "escherichia coli discitis"} +{"id": "MONDO_8000003", "parentIds": ["EFO_1000900", "EFO_0000772", "EFO_1001351"], "name": "streptococcus pneumoniae discitis"} +{"id": "MONDO_8000004", "parentIds": ["MONDO_0000827", "EFO_1000900", "EFO_1001351"], "name": "salmonella discitis"} +{"id": "MONDO_8000005", "parentIds": ["MONDO_0002041", "EFO_1000900"], "name": "fungal discitis"} +{"id": "MONDO_8000011", "parentIds": ["MONDO_0000858", "MONDO_0017574", "MONDO_0023961"], "name": "visceral neuropathy, familial, 1, autosomal recessive"} +{"id": "MONDO_8000012", "parentIds": ["MONDO_0024189"], "name": "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1"} {"id": "MP_0001845", "parentIds": ["HP_0002715"], "name": "inflammation"} {"id": "MP_0001914", "parentIds": ["HP_0001871"], "name": "hemorrhage"} {"id": "NCIT_C117245", "parentIds": ["EFO_0000677"], "name": "decreased attention"} @@ -10807,49 +13496,106 @@ {"id": "NCIT_C95746", "parentIds": ["EFO_0008568"], "name": "sleepiness"} {"id": "OBA_1000312", "parentIds": ["GO_0006766"], "name": "vitamin D metabolic process quality"} {"id": "OBA_2001000", "parentIds": ["OBA_2040165"], "name": "age of onset of Alzheimer disease"} -{"id": "OBA_2001001", "parentIds": ["HP_0003674"], "name": "age of onset of asthma"} +{"id": "OBA_2001001", "parentIds": ["OBA_2020000"], "name": "age of onset of asthma"} {"id": "OBA_2001002", "parentIds": ["OBA_2040153"], "name": "age of onset of urinary bladder carcinoma"} -{"id": "OBA_2001004", "parentIds": ["HP_0003674"], "name": "age of onset of cataract"} -{"id": "OBA_2001007", "parentIds": ["HP_0003674"], "name": "age of onset of hyperlipidemia"} -{"id": "OBA_2001008", "parentIds": ["HP_0003674"], "name": "age of onset of osteoarthritis"} -{"id": "OBA_2001009", "parentIds": ["HP_0003674"], "name": "age of onset of Parkinson disease"} +{"id": "OBA_2001004", "parentIds": ["OBA_2020000"], "name": "age of onset of cataract"} +{"id": "OBA_2001007", "parentIds": ["OBA_2020000"], "name": "age of onset of hyperlipidemia"} +{"id": "OBA_2001008", "parentIds": ["OBA_2020000"], "name": "age of onset of osteoarthritis"} +{"id": "OBA_2001009", "parentIds": ["OBA_2020000"], "name": "age of onset of Parkinson disease"} {"id": "OBA_2001010", "parentIds": ["OBA_2040159"], "name": "age of onset of essential hypertension"} {"id": "OBA_2001011", "parentIds": ["OBA_2040165"], "name": "age of onset of schizophrenia"} -{"id": "OBA_2001012", "parentIds": ["HP_0003674"], "name": "age of onset of type 1 diabetes mellitus"} -{"id": "OBA_2001013", "parentIds": ["HP_0003674"], "name": "age of onset of type 2 diabetes mellitus"} +{"id": "OBA_2001012", "parentIds": ["OBA_2020000"], "name": "age of onset of type 1 diabetes mellitus"} +{"id": "OBA_2001013", "parentIds": ["OBA_2020000"], "name": "age of onset of type 2 diabetes mellitus"} {"id": "OBA_2001015", "parentIds": ["OBA_2001001"], "name": "age of onset of childhood onset asthma"} -{"id": "OBA_2001016", "parentIds": ["HP_0003674"], "name": "age of onset of alcohol dependence"} -{"id": "OBA_2001017", "parentIds": ["HP_0003674"], "name": "age of onset of allergic disease"} -{"id": "OBA_2001018", "parentIds": ["HP_0003674"], "name": "age of onset of amyotrophic lateral sclerosis"} -{"id": "OBA_2001019", "parentIds": ["HP_0003674"], "name": "age of onset of bipolar disorder"} -{"id": "OBA_2001020", "parentIds": ["HP_0003674"], "name": "age of onset of Buruli ulcer disease"} +{"id": "OBA_2001016", "parentIds": ["OBA_2020000"], "name": "age of onset of alcohol dependence"} +{"id": "OBA_2001017", "parentIds": ["OBA_2020000"], "name": "age of onset of allergic disease"} +{"id": "OBA_2001018", "parentIds": ["OBA_2020000"], "name": "age of onset of amyotrophic lateral sclerosis"} +{"id": "OBA_2001019", "parentIds": ["OBA_2020000"], "name": "age of onset of bipolar disorder"} +{"id": "OBA_2001020", "parentIds": ["OBA_2020000"], "name": "age of onset of Buruli ulcer disease"} {"id": "OBA_2001022", "parentIds": ["OBA_2040165"], "name": "age of onset of frontotemporal dementia"} -{"id": "OBA_2001024", "parentIds": ["HP_0003674"], "name": "age of onset of Huntington disease"} -{"id": "OBA_2001026", "parentIds": ["HP_0003674"], "name": "age of onset of migraine disorder"} +{"id": "OBA_2001024", "parentIds": ["OBA_2020000"], "name": "age of onset of Huntington disease"} +{"id": "OBA_2001026", "parentIds": ["OBA_2020000"], "name": "age of onset of migraine disorder"} {"id": "OBA_2001027", "parentIds": ["OBA_2001026"], "name": "age of onset of migraine with aura"} {"id": "OBA_2001028", "parentIds": ["OBA_2001026"], "name": "age of onset of migraine without aura"} -{"id": "OBA_2001029", "parentIds": ["HP_0003674"], "name": "age of onset of multiple sclerosis"} +{"id": "OBA_2001029", "parentIds": ["OBA_2020000"], "name": "age of onset of multiple sclerosis"} {"id": "OBA_2001030", "parentIds": ["OBA_2001031"], "name": "age of onset of myopia"} -{"id": "OBA_2001031", "parentIds": ["HP_0003674"], "name": "age of onset of refractive error"} -{"id": "OBA_2001032", "parentIds": ["HP_0003674"], "name": "age of onset of narcolepsy-cataplexy syndrome"} -{"id": "OBA_2001033", "parentIds": ["HP_0003674"], "name": "age of onset of coronary atherosclerosis"} -{"id": "OBA_2040153", "parentIds": ["HP_0003674"], "name": "age of onset of cancer"} -{"id": "OBA_2040154", "parentIds": ["HP_0003674"], "name": "age of onset of glaucoma"} -{"id": "OBA_2040155", "parentIds": ["HP_0003674"], "name": "age of onset of stroke disorder"} -{"id": "OBA_2040156", "parentIds": ["HP_0003674"], "name": "age of onset of coronary stenosis"} +{"id": "OBA_2001031", "parentIds": ["OBA_2020000"], "name": "age of onset of refractive error"} +{"id": "OBA_2001032", "parentIds": ["OBA_2020000"], "name": "age of onset of narcolepsy-cataplexy syndrome"} +{"id": "OBA_2001033", "parentIds": ["OBA_2020000"], "name": "age of onset of coronary atherosclerosis"} +{"id": "OBA_2020000", "parentIds": ["HP_0003674"], "name": "age of onset of disease"} +{"id": "OBA_2040001", "parentIds": ["OBA_2050354"], "name": "trait in response to zileuton"} +{"id": "OBA_2040004", "parentIds": ["GO_0009410"], "name": "trait in response to erlotinib"} +{"id": "OBA_2040005", "parentIds": ["EFO_0010123"], "name": "trait in response to efavirenz"} +{"id": "OBA_2040015", "parentIds": ["GO_0050896"], "name": "trait in response to bleomycin"} +{"id": "OBA_2040021", "parentIds": ["GO_0050896"], "name": "trait in response to vancomycin"} +{"id": "OBA_2040022", "parentIds": ["GO_0050896"], "name": "trait in response to rifampicin"} +{"id": "OBA_2040023", "parentIds": ["GO_0061476"], "name": "trait in response to heparin"} +{"id": "OBA_2040024", "parentIds": ["GO_0050896"], "name": "trait in response to vincristine"} +{"id": "OBA_2040025", "parentIds": ["EFO_0010051", "GO_0097329", "GO_0097327"], "name": "trait in response to cytarabine"} +{"id": "OBA_2040028", "parentIds": ["EFO_0010051", "GO_0097327"], "name": "trait in response to melphalan"} +{"id": "OBA_2040029", "parentIds": ["GO_0050896"], "name": "trait in response to silicon dioxide"} +{"id": "OBA_2040030", "parentIds": ["GO_0009410"], "name": "trait in response to ethanol"} +{"id": "OBA_2040033", "parentIds": ["GO_0036276"], "name": "trait in response to bupropion"} +{"id": "OBA_2040034", "parentIds": ["GO_0009410"], "name": "trait in response to buspirone"} +{"id": "OBA_2040037", "parentIds": ["GO_0050896"], "name": "trait in response to platinum"} +{"id": "OBA_2040039", "parentIds": ["GO_0036277"], "name": "trait in response to carbamazepine"} +{"id": "OBA_2040051", "parentIds": ["GO_0050896"], "name": "trait in response to thiopurine"} +{"id": "OBA_2040054", "parentIds": ["GO_0050896"], "name": "trait in response to taxane"} +{"id": "OBA_2040055", "parentIds": ["GO_0036277"], "name": "trait in response to escitalopram"} +{"id": "OBA_2040056", "parentIds": ["GO_0050896"], "name": "trait in response to duloxetine"} +{"id": "OBA_2040057", "parentIds": ["GO_0036277"], "name": "trait in response to citalopram"} +{"id": "OBA_2040067", "parentIds": ["OBA_2050354"], "name": "trait in response to allopurinol"} +{"id": "OBA_2040071", "parentIds": ["GO_0009410"], "name": "trait in response to abacavir"} +{"id": "OBA_2040073", "parentIds": ["GO_0009410"], "name": "trait in response to paclitaxel"} +{"id": "OBA_2040075", "parentIds": ["OBA_2050354"], "name": "trait in response to diclofenac"} +{"id": "OBA_2040079", "parentIds": ["GO_0009410"], "name": "trait in response to gefitinib"} +{"id": "OBA_2040083", "parentIds": ["GO_0050896"], "name": "trait in response to thiazide"} +{"id": "OBA_2040085", "parentIds": ["GO_0097329"], "name": "trait in response to mercaptopurine"} +{"id": "OBA_2040086", "parentIds": ["GO_0009410"], "name": "trait in response to montelukast"} +{"id": "OBA_2040089", "parentIds": ["GO_0036277"], "name": "trait in response to tetracyclic antidepressant"} +{"id": "OBA_2040091", "parentIds": ["EFO_0005657"], "name": "trait in response to bortezomib"} +{"id": "OBA_2040093", "parentIds": ["OBA_2040083"], "name": "trait in response to hydrochlorothiazide"} +{"id": "OBA_2040101", "parentIds": ["GO_0050896"], "name": "trait in response to stavudine"} +{"id": "OBA_2040102", "parentIds": ["GO_0009410"], "name": "trait in response to sotalol"} +{"id": "OBA_2040104", "parentIds": ["EFO_0007767"], "name": "trait in response to lamotrigine"} +{"id": "OBA_2040108", "parentIds": ["GO_0009410"], "name": "trait in response to losartan"} +{"id": "OBA_2040114", "parentIds": ["GO_0009410"], "name": "trait in response to dabigatran etexilate"} +{"id": "OBA_2040115", "parentIds": ["GO_0050896"], "name": "trait in response to omacetaxine mepesuccinate"} +{"id": "OBA_2040117", "parentIds": ["GO_0097327"], "name": "trait in response to pazopanib"} +{"id": "OBA_2040118", "parentIds": ["GO_0050896"], "name": "trait in response to nitrofurantoin"} +{"id": "OBA_2040119", "parentIds": ["GO_0051384"], "name": "trait in response to triamcinolone acetonide"} +{"id": "OBA_2040121", "parentIds": ["GO_0050896"], "name": "trait in response to dabrafenib"} +{"id": "OBA_2040122", "parentIds": ["GO_0050896"], "name": "trait in response to trametinib"} +{"id": "OBA_2040128", "parentIds": ["GO_0097327"], "name": "trait in response to irinotecan"} +{"id": "OBA_2040130", "parentIds": ["GO_0036277"], "name": "trait in response to phenytoin"} +{"id": "OBA_2040132", "parentIds": ["GO_0097332"], "name": "trait in response to paliperidone"} +{"id": "OBA_2040133", "parentIds": ["GO_0051384"], "name": "trait in response to prednisolone"} +{"id": "OBA_2040137", "parentIds": ["OBA_2050354"], "name": "trait in response to sulfasalazine"} +{"id": "OBA_2040139", "parentIds": ["GO_0009410"], "name": "trait in response to terbinafine"} +{"id": "OBA_2040140", "parentIds": ["GO_0050896"], "name": "trait in response to Triptolide"} +{"id": "OBA_2040141", "parentIds": ["GO_0036277"], "name": "trait in response to venlafaxine"} +{"id": "OBA_2040153", "parentIds": ["OBA_2020000"], "name": "age of onset of cancer"} +{"id": "OBA_2040154", "parentIds": ["OBA_2020000"], "name": "age of onset of glaucoma"} +{"id": "OBA_2040155", "parentIds": ["OBA_2020000"], "name": "age of onset of stroke disorder"} +{"id": "OBA_2040156", "parentIds": ["OBA_2020000"], "name": "age of onset of coronary stenosis"} {"id": "OBA_2040157", "parentIds": ["OBA_2040153"], "name": "age of onset of glioblastoma"} -{"id": "OBA_2040158", "parentIds": ["HP_0003674"], "name": "age of onset of systemic lupus erythematosus"} -{"id": "OBA_2040159", "parentIds": ["HP_0003674"], "name": "age of onset of hypertensive disorder"} +{"id": "OBA_2040158", "parentIds": ["OBA_2020000"], "name": "age of onset of systemic lupus erythematosus"} +{"id": "OBA_2040159", "parentIds": ["OBA_2020000"], "name": "age of onset of hypertensive disorder"} {"id": "OBA_2040160", "parentIds": ["OBA_2040165"], "name": "age of onset of Machado-Joseph disease"} {"id": "OBA_2040161", "parentIds": ["OBA_2040166"], "name": "age of onset of major depressive disorder"} -{"id": "OBA_2040165", "parentIds": ["HP_0003674"], "name": "age of onset of cognitive disorder"} -{"id": "OBA_2040166", "parentIds": ["HP_0003674"], "name": "age of onset of depressive disorder"} -{"id": "OBA_2040167", "parentIds": ["HP_0003674"], "name": "age of onset of cervical dystonia"} -{"id": "OBA_2050099", "parentIds": ["HP_0003674"], "name": "age of onset of anorexia nervosa"} +{"id": "OBA_2040165", "parentIds": ["OBA_2020000"], "name": "age of onset of cognitive disorder"} +{"id": "OBA_2040166", "parentIds": ["OBA_2020000"], "name": "age of onset of depressive disorder"} +{"id": "OBA_2040167", "parentIds": ["OBA_2020000"], "name": "age of onset of cervical dystonia"} +{"id": "OBA_2050099", "parentIds": ["OBA_2020000"], "name": "age of onset of anorexia nervosa"} {"id": "OBA_2050327", "parentIds": ["OBA_2040153"], "name": "age of onset of colorectal cancer"} {"id": "OBA_2050328", "parentIds": ["GO_0061476"], "name": "trait in response to apixaban"} {"id": "OBA_2050330", "parentIds": ["GO_0009410"], "name": "trait in response to teriparatide"} -{"id": "OBA_2050333", "parentIds": ["EFO_0004647"], "name": "trait in response to oxaliplatin"} +{"id": "OBA_2050333", "parentIds": ["OBA_2040037"], "name": "trait in response to oxaliplatin"} +{"id": "OBA_2050351", "parentIds": ["EFO_0004324"], "name": "breast density"} +{"id": "OBA_2050352", "parentIds": ["GO_0009410"], "name": "trait in response to hypoglycemic agent"} +{"id": "OBA_2050353", "parentIds": ["OBA_2040153"], "name": "age of onset of pancreatic ductal adenocarcinoma"} +{"id": "OBA_2050354", "parentIds": ["GO_0009410"], "name": "trait in response to antirheumatic drug"} +{"id": "OBA_2050355", "parentIds": ["OBA_2020000"], "name": "age of onset of diverticulitis"} {"id": "OBA_VT0010487", "parentIds": ["GO_0009410"], "name": "response to xenobiotic stimulus trait"} {"id": "OBI_0001620", "parentIds": ["EFO_0001444"], "name": "latitude"} {"id": "OBI_0001621", "parentIds": ["EFO_0001444"], "name": "longitude"} @@ -10859,11 +13605,11 @@ {"id": "EFO_0000094", "parentIds": ["EFO_0000220", "EFO_1001938"], "name": "B-cell acute lymphoblastic leukemia"} {"id": "EFO_0000095", "parentIds": ["MONDO_0001014", "EFO_0000220", "EFO_0000096", "MONDO_0017594"], "name": "chronic lymphocytic leukemia"} {"id": "EFO_0000096", "parentIds": ["MONDO_0004095"], "name": "neoplasm of mature B-cells"} -{"id": "EFO_0000174", "parentIds": ["MONDO_0021038", "EFO_0000691"], "name": "Ewing sarcoma"} +{"id": "EFO_0000174", "parentIds": ["MONDO_0021038", "EFO_0000691", "EFO_0000508"], "name": "Ewing sarcoma"} {"id": "EFO_0000178", "parentIds": ["MONDO_0001056", "EFO_1000218"], "name": "gastric carcinoma"} {"id": "EFO_0000180", "parentIds": ["EFO_0000764"], "name": "HIV-1 infection"} {"id": "EFO_0000181", "parentIds": ["MONDO_0002038", "EFO_0000707"], "name": "head and neck squamous cell carcinoma"} -{"id": "EFO_0000182", "parentIds": ["MONDO_0018532"], "name": "hepatocellular carcinoma"} +{"id": "EFO_0000182", "parentIds": ["EFO_0000228", "MONDO_0018531"], "name": "hepatocellular carcinoma"} {"id": "EFO_0000183", "parentIds": ["MONDO_0017343", "EFO_0000574"], "name": "Hodgkins lymphoma"} {"id": "EFO_0000186", "parentIds": ["EFO_1000307", "EFO_0006318"], "name": "invasive breast ductal carcinoma"} {"id": "EFO_0000191", "parentIds": ["EFO_1000630", "EFO_0000096"], "name": "MALT lymphoma"} @@ -10876,7 +13622,7 @@ {"id": "EFO_0000203", "parentIds": ["EFO_0005803"], "name": "monoclonal gammopathy"} {"id": "EFO_0000205", "parentIds": ["EFO_0000466"], "name": "stage I endometrioid carcinoma"} {"id": "EFO_0000206", "parentIds": ["EFO_0000466"], "name": "stage II endometrioid carcinoma"} -{"id": "EFO_0000209", "parentIds": ["EFO_0000220"], "name": "T-cell acute lymphoblastic leukemia"} +{"id": "EFO_0000209", "parentIds": ["EFO_0005592", "EFO_0000220"], "name": "T-cell acute lymphoblastic leukemia"} {"id": "EFO_0000211", "parentIds": ["EFO_0002426", "EFO_0000574"], "name": "unspecified peripheral T-cell lymphoma"} {"id": "EFO_0000216", "parentIds": ["EFO_0000228"], "name": "acinar cell carcinoma"} {"id": "EFO_0000217", "parentIds": ["EFO_0009608"], "name": "gastritis"} @@ -10891,7 +13637,7 @@ {"id": "EFO_0000231", "parentIds": ["EFO_0000228"], "name": "adenoid cystic carcinoma"} {"id": "EFO_0000232", "parentIds": ["EFO_0006858"], "name": "adenoma"} {"id": "EFO_0000233", "parentIds": ["EFO_1000073", "MONDO_0056806"], "name": "adenosquamous lung carcinoma"} -{"id": "EFO_0000239", "parentIds": ["MONDO_0021072", "MONDO_0021237", "Orphanet_271847"], "name": "adrenal gland pheochromocytoma"} +{"id": "EFO_0000239", "parentIds": ["Orphanet_271847", "MONDO_0021237", "MONDO_0021072"], "name": "adrenal gland pheochromocytoma"} {"id": "EFO_0000246", "parentIds": ["EFO_0000719"], "name": "age"} {"id": "EFO_0000248", "parentIds": ["EFO_0002918"], "name": "alveolar rhabdomyosarcoma"} {"id": "EFO_0000255", "parentIds": ["MONDO_0000430"], "name": "angioimmunoblastic T-cell lymphoma"} @@ -10906,7 +13652,7 @@ {"id": "EFO_0000284", "parentIds": ["EFO_0000536", "EFO_0009602"], "name": "benign prostatic hyperplasia"} {"id": "EFO_0000287", "parentIds": ["EFO_0001444"], "name": "biopsy number"} {"id": "EFO_0000294", "parentIds": ["EFO_1000018", "MONDO_0021066"], "name": "bladder tumor"} -{"id": "EFO_0000304", "parentIds": ["MONDO_0000653", "EFO_0000228", "EFO_0000305"], "name": "breast adenocarcinoma"} +{"id": "EFO_0000304", "parentIds": ["EFO_0000228", "EFO_0000305"], "name": "breast adenocarcinoma"} {"id": "EFO_0000305", "parentIds": ["EFO_0000313", "MONDO_0007254"], "name": "breast carcinoma"} {"id": "EFO_0000306", "parentIds": ["EFO_1000143"], "name": "breast tumor luminal"} {"id": "EFO_0000308", "parentIds": ["EFO_0000571"], "name": "bronchoalveolar adenocarcinoma"} @@ -10918,7 +13664,7 @@ {"id": "EFO_0000330", "parentIds": ["MONDO_0004355", "EFO_0000222"], "name": "childhood acute myeloid leukemia"} {"id": "EFO_0000331", "parentIds": ["MONDO_0024470", "MONDO_0000631"], "name": "chondroblastoma"} {"id": "EFO_0000332", "parentIds": ["MONDO_0000631", "MONDO_0024470"], "name": "chondromyxoid fibroma"} -{"id": "EFO_0000333", "parentIds": ["MONDO_0021581", "EFO_0004260", "EFO_0000691"], "name": "chondrosarcoma"} +{"id": "EFO_0000333", "parentIds": ["MONDO_0021581", "MONDO_0023603", "EFO_0000691"], "name": "chondrosarcoma"} {"id": "EFO_0000335", "parentIds": ["EFO_0005708"], "name": "chromophobe renal cell carcinoma"} {"id": "EFO_0000337", "parentIds": ["EFO_0000217"], "name": "chronic gastritis"} {"id": "EFO_0000339", "parentIds": ["MONDO_0023603", "MONDO_0004643", "EFO_0004251"], "name": "chronic myelogenous leukemia"} @@ -10948,13 +13694,13 @@ {"id": "EFO_0000428", "parentIds": ["EFO_0001444"], "name": "dose"} {"id": "EFO_0000432", "parentIds": ["MONDO_0003218", "EFO_0006318", "MONDO_0004658", "MONDO_0004007"], "name": "breast ductal carcinoma in situ"} {"id": "EFO_0000433", "parentIds": ["EFO_0000719"], "name": "duration"} -{"id": "EFO_0000437", "parentIds": ["EFO_0002918"], "name": "embryonal rhabdomyosarcoma"} +{"id": "EFO_0000437", "parentIds": ["EFO_0002918", "EFO_0000508"], "name": "embryonal rhabdomyosarcoma"} {"id": "EFO_0000464", "parentIds": ["EFO_0000341"], "name": "emphysema"} {"id": "EFO_0000465", "parentIds": ["MONDO_0000470", "MONDO_0024636"], "name": "endocarditis"} {"id": "EFO_0000466", "parentIds": ["EFO_0000228", "EFO_1001331"], "name": "endometrioid carcinoma"} {"id": "EFO_0000474", "parentIds": ["EFO_0005774"], "name": "epilepsy"} {"id": "EFO_0000478", "parentIds": ["EFO_0000228", "EFO_0002916"], "name": "esophageal adenocarcinoma"} -{"id": "EFO_0000479", "parentIds": ["MONDO_0019111", "MONDO_0023603", "MONDO_0002249", "EFO_0002428", "EFO_0004251"], "name": "essential thrombocythemia"} +{"id": "EFO_0000479", "parentIds": ["MONDO_0002249", "EFO_0002428", "EFO_0004251"], "name": "essential thrombocythemia"} {"id": "EFO_0000480", "parentIds": ["EFO_0001444"], "name": "event death"} {"id": "EFO_0000482", "parentIds": ["EFO_0000714"], "name": "event free survival time"} {"id": "EFO_0000483", "parentIds": ["EFO_0003940"], "name": "exercise"} @@ -10991,7 +13737,7 @@ {"id": "EFO_0000563", "parentIds": ["MONDO_0002120", "MONDO_0005232"], "name": "large cell neuroendocrine carcinoma"} {"id": "EFO_0000564", "parentIds": ["EFO_1001968", "MONDO_0017345", "MONDO_0002924"], "name": "leiomyosarcoma"} {"id": "EFO_0000565", "parentIds": ["MONDO_0044881"], "name": "leukemia"} -{"id": "EFO_0000569", "parentIds": ["MONDO_0002813", "EFO_1001968", "EFO_0005755"], "name": "liposarcoma"} +{"id": "EFO_0000569", "parentIds": ["MONDO_0002813", "MONDO_0000637", "EFO_1001968", "EFO_0005755"], "name": "liposarcoma"} {"id": "EFO_0000571", "parentIds": ["EFO_0000228", "EFO_0003060"], "name": "lung adenocarcinoma"} {"id": "EFO_0000574", "parentIds": ["MONDO_0015757", "Orphanet_322126", "EFO_0001642"], "name": "lymphoma"} {"id": "EFO_0000580", "parentIds": ["EFO_0000186"], "name": "medullary breast carcinoma"} @@ -11000,17 +13746,17 @@ {"id": "EFO_0000589", "parentIds": ["OTAR_0000020"], "name": "metabolic disease"} {"id": "EFO_0000595", "parentIds": ["EFO_0001376"], "name": "monophasic synovial sarcoma"} {"id": "EFO_0000612", "parentIds": ["MONDO_0024643"], "name": "myocardial infarction"} -{"id": "EFO_0000613", "parentIds": ["MONDO_0017127", "Orphanet_271832", "MONDO_0020561", "MONDO_0023603"], "name": "myxoid liposarcoma"} +{"id": "EFO_0000613", "parentIds": ["Orphanet_271832", "MONDO_0020561", "MONDO_0023603"], "name": "myxoid liposarcoma"} {"id": "EFO_0000616", "parentIds": ["MONDO_0023370"], "name": "neoplasm"} {"id": "EFO_0000618", "parentIds": [], "name": "nervous system disease"} {"id": "EFO_0000621", "parentIds": ["EFO_1000393"], "name": "neuroblastoma"} {"id": "EFO_0000622", "parentIds": ["EFO_0002431"], "name": "neurofibroma"} -{"id": "EFO_0000625", "parentIds": ["EFO_0000701", "EFO_0002422"], "name": "nevus"} +{"id": "EFO_0000625", "parentIds": ["EFO_0000701"], "name": "nevus"} {"id": "EFO_0000627", "parentIds": ["EFO_0001444"], "name": "number of injections"} -{"id": "EFO_0000630", "parentIds": ["MONDO_0021639", "MONDO_0016701"], "name": "oligoastrocytoma"} +{"id": "EFO_0000630", "parentIds": ["MONDO_0003268", "MONDO_0021639", "EFO_1000356", "EFO_0000326"], "name": "oligoastrocytoma"} {"id": "EFO_0000632", "parentIds": ["MONDO_0018744", "MONDO_0021639"], "name": "oligodendroglioma"} {"id": "EFO_0000633", "parentIds": ["EFO_0001444"], "name": "operator variation"} -{"id": "EFO_0000637", "parentIds": ["EFO_0000691", "EFO_0004260"], "name": "osteosarcoma"} +{"id": "EFO_0000637", "parentIds": ["EFO_0003820", "MONDO_0000637", "EFO_0000691"], "name": "osteosarcoma"} {"id": "EFO_0000638", "parentIds": ["EFO_0004557", "EFO_0000714"], "name": "overall survival"} {"id": "EFO_0000639", "parentIds": ["EFO_0006387", "EFO_1000448", "MONDO_0002512"], "name": "papillary cystadenocarcinoma"} {"id": "EFO_0000640", "parentIds": ["MONDO_0002512", "EFO_0005708"], "name": "papillary renal cell carcinoma"} @@ -11038,9 +13784,9 @@ {"id": "EFO_0000693", "parentIds": ["MONDO_0002547", "MONDO_0016752", "MONDO_0021637"], "name": "schwannoma"} {"id": "EFO_0000694", "parentIds": ["EFO_0000684", "MONDO_0020753"], "name": "severe acute respiratory syndrome"} {"id": "EFO_0000698", "parentIds": ["EFO_0000228"], "name": "signet ring cell carcinoma"} -{"id": "EFO_0000699", "parentIds": ["EFO_0008581", "MONDO_0024625", "MONDO_0000586", "EFO_0005140"], "name": "Sjogren syndrome"} +{"id": "EFO_0000699", "parentIds": ["MONDO_0000588", "EFO_0008581", "MONDO_0024625", "MONDO_0000586", "EFO_0005140"], "name": "Sjogren syndrome"} {"id": "EFO_0000701", "parentIds": ["EFO_0010285"], "name": "skin disease"} -{"id": "EFO_0000702", "parentIds": ["EFO_0005220", "EFO_0001071", "Orphanet_271847", "EFO_0008524", "MONDO_0025511"], "name": "small cell lung carcinoma"} +{"id": "EFO_0000702", "parentIds": ["EFO_0005220", "EFO_0001071", "Orphanet_271847", "EFO_0008524"], "name": "small cell lung carcinoma"} {"id": "EFO_0000705", "parentIds": ["EFO_0000616"], "name": "spindle cell tumor"} {"id": "EFO_0000706", "parentIds": ["EFO_1000999", "EFO_0005755", "EFO_0000540"], "name": "spondyloarthropathy"} {"id": "EFO_0000707", "parentIds": ["MONDO_0002532", "EFO_0000313"], "name": "squamous cell carcinoma"} @@ -11048,14 +13794,14 @@ {"id": "EFO_0000712", "parentIds": ["EFO_0003763"], "name": "stroke"} {"id": "EFO_0000713", "parentIds": ["EFO_0005774", "EFO_0003763"], "name": "subarachnoid hemorrhage"} {"id": "EFO_0000714", "parentIds": ["EFO_0004949"], "name": "survival time"} -{"id": "EFO_0000717", "parentIds": ["MONDO_0100191", "EFO_0000701", "EFO_1001993", "MONDO_0100118", "EFO_0000684"], "name": "systemic scleroderma"} +{"id": "EFO_0000717", "parentIds": ["EFO_0003086", "EFO_0000701", "EFO_1001993", "EFO_0000684"], "name": "systemic scleroderma"} {"id": "EFO_0000718", "parentIds": ["EFO_0001444"], "name": "exposure temperature"} {"id": "EFO_0000719", "parentIds": ["EFO_0001444"], "name": "temporal measurement"} {"id": "EFO_0000721", "parentIds": ["EFO_0000719"], "name": "time"} {"id": "EFO_0000724", "parentIds": ["EFO_0000719"], "name": "timepoint"} {"id": "EFO_0000729", "parentIds": ["EFO_0003872"], "name": "ulcerative colitis"} {"id": "EFO_0000730", "parentIds": ["MONDO_0002397"], "name": "undifferentiated sarcoma"} -{"id": "EFO_0000731", "parentIds": ["Orphanet_271832", "MONDO_0017127", "MONDO_0001572", "MONDO_0021525", "EFO_0002424", "MONDO_0023603"], "name": "uterine fibroid"} +{"id": "EFO_0000731", "parentIds": ["Orphanet_271832", "MONDO_0001572", "MONDO_0021525", "EFO_0002424", "MONDO_0023603"], "name": "uterine fibroid"} {"id": "EFO_0000734", "parentIds": ["MONDO_0042976", "EFO_0005878"], "name": "vitamin B12 deficiency"} {"id": "EFO_0000736", "parentIds": ["EFO_0000569"], "name": "well-differentiated liposarcoma"} {"id": "EFO_0000737", "parentIds": ["EFO_0000691"], "name": "well-differentiated sarcoma"} @@ -11068,8 +13814,8 @@ {"id": "EFO_0000765", "parentIds": ["EFO_0000764", "MONDO_0003780"], "name": "AIDS"} {"id": "EFO_0000767", "parentIds": ["EFO_0000318"], "name": "idiopathic cardiomyopathy"} {"id": "EFO_0000768", "parentIds": ["EFO_0009448"], "name": "idiopathic pulmonary fibrosis"} -{"id": "EFO_0000769", "parentIds": ["EFO_0007309"], "name": "Epstein-Barr virus infection"} -{"id": "EFO_0000770", "parentIds": ["EFO_1000362", "EFO_1000355", "EFO_1000485"], "name": "malignant pleural mesothelioma"} +{"id": "EFO_0000769", "parentIds": ["MONDO_0100329"], "name": "Epstein-Barr virus infection"} +{"id": "EFO_0000770", "parentIds": ["EFO_1000355", "EFO_1000485", "EFO_1000362"], "name": "malignant pleural mesothelioma"} {"id": "EFO_0000771", "parentIds": ["EFO_0005741"], "name": "bacterial disease"} {"id": "EFO_0000772", "parentIds": ["EFO_1001476"], "name": "pneumococcal infection"} {"id": "EFO_0000773", "parentIds": ["MONDO_0017704"], "name": "temporal lobe epilepsy"} @@ -11082,19 +13828,19 @@ {"id": "EFO_0000781", "parentIds": ["EFO_0000771"], "name": "Pectobacterium carotovorum infection"} {"id": "EFO_0000782", "parentIds": ["EFO_0000763"], "name": "Hibiscus chlorotic ringspot virus infection"} {"id": "EFO_0000783", "parentIds": ["EFO_0000540", "EFO_0004145"], "name": "myositis"} -{"id": "EFO_0001054", "parentIds": ["EFO_0004248", "EFO_0009429", "MONDO_0000314", "EFO_0003100", "MONDO_0020590"], "name": "leprosy"} +{"id": "EFO_0001054", "parentIds": ["EFO_0004248", "EFO_0009429", "MONDO_0020010", "MONDO_0000314", "EFO_0003100", "MONDO_0020590"], "name": "leprosy"} {"id": "EFO_0001055", "parentIds": ["EFO_0001054"], "name": "borderline leprosy"} {"id": "EFO_0001056", "parentIds": ["EFO_0001054"], "name": "tuberculoid leprosy"} {"id": "EFO_0001057", "parentIds": ["EFO_0001054"], "name": "lepromatous leprosy"} {"id": "EFO_0001060", "parentIds": ["MONDO_0000588", "EFO_0009554", "EFO_0000508", "MONDO_0024635"], "name": "celiac disease"} {"id": "EFO_0001061", "parentIds": ["EFO_0002919", "MONDO_0002974"], "name": "cervical carcinoma"} -{"id": "EFO_0001062", "parentIds": ["EFO_0007309"], "name": "cytomegalovirus infection"} +{"id": "EFO_0001062", "parentIds": ["MONDO_0100329"], "name": "cytomegalovirus infection"} {"id": "EFO_0001063", "parentIds": ["EFO_0004238"], "name": "deafness"} {"id": "EFO_0001064", "parentIds": ["MONDO_0700124"], "name": "Down syndrome"} {"id": "EFO_0001065", "parentIds": ["MONDO_0000931"], "name": "endometriosis"} -{"id": "EFO_0001066", "parentIds": ["EFO_1000870", "EFO_0020092", "EFO_0001423"], "name": "experimental autoimmune encephalomyelitis"} +{"id": "EFO_0001066", "parentIds": ["EFO_0001423", "MONDO_1011336"], "name": "experimental autoimmune encephalomyelitis"} {"id": "EFO_0001067", "parentIds": ["EFO_0005741"], "name": "parasitic infection"} -{"id": "EFO_0001068", "parentIds": ["MONDO_0002428", "EFO_0001421", "MONDO_0100120", "MONDO_0044347"], "name": "malaria"} +{"id": "EFO_0001068", "parentIds": ["MONDO_0002428", "EFO_0001421", "MONDO_0100120", "MONDO_0043424", "MONDO_0044347"], "name": "malaria"} {"id": "EFO_0001069", "parentIds": ["EFO_0000589"], "name": "nutritional disorder"} {"id": "EFO_0001070", "parentIds": ["EFO_0005878"], "name": "folate deficiency"} {"id": "EFO_0001071", "parentIds": ["MONDO_0008903", "EFO_0000313"], "name": "lung carcinoma"} @@ -11117,7 +13863,7 @@ {"id": "EFO_0001382", "parentIds": ["GO_0008150"], "name": "puberty"} {"id": "EFO_0001416", "parentIds": ["EFO_0000228", "EFO_0001061"], "name": "cervical adenocarcinoma"} {"id": "EFO_0001421", "parentIds": ["EFO_0001379", "EFO_0010284"], "name": "liver disease"} -{"id": "EFO_0001422", "parentIds": ["EFO_0001421", "EFO_0006890"], "name": "cirrhosis of liver"} +{"id": "EFO_0001422", "parentIds": ["EFO_0001421", "EFO_0006890", "MONDO_0024477"], "name": "cirrhosis of liver"} {"id": "EFO_0001423", "parentIds": ["EFO_0009386"], "name": "encephalomyelitis"} {"id": "EFO_0001425", "parentIds": ["EFO_0000318"], "name": "ischemic cardiomyopathy"} {"id": "EFO_0001444", "parentIds": [], "name": "measurement"} @@ -11135,8 +13881,8 @@ {"id": "EFO_0002426", "parentIds": ["MONDO_0024615"], "name": "neoplasm of mature T-cells or NK-cells"} {"id": "EFO_0002427", "parentIds": ["MONDO_0044881"], "name": "myeloid neoplasm"} {"id": "EFO_0002428", "parentIds": ["MONDO_0015756", "MONDO_0021138", "EFO_0002427"], "name": "chronic myeloproliferative disorder"} -{"id": "EFO_0002429", "parentIds": ["MONDO_0020703", "MONDO_0001115", "MONDO_0023603", "EFO_0004251", "EFO_0005804"], "name": "polycythemia vera"} -{"id": "EFO_0002430", "parentIds": ["EFO_0004251", "MONDO_0023603", "EFO_0006890", "EFO_0002428", "MONDO_0001713"], "name": "primary myelofibrosis"} +{"id": "EFO_0002429", "parentIds": ["MONDO_0020703", "EFO_0004251", "EFO_0005804"], "name": "polycythemia vera"} +{"id": "EFO_0002430", "parentIds": ["EFO_0004251", "EFO_0006890", "EFO_0002428", "MONDO_0015909"], "name": "primary myelofibrosis"} {"id": "EFO_0002431", "parentIds": ["EFO_0009387", "MONDO_0021248"], "name": "tumour of cranial and spinal nerves"} {"id": "EFO_0002460", "parentIds": ["EFO_0000651"], "name": "hypertrophy"} {"id": "EFO_0002461", "parentIds": ["EFO_0009676"], "name": "skeletal system disease"} @@ -11151,16 +13897,15 @@ {"id": "EFO_0002504", "parentIds": ["MONDO_0002369"], "name": "serous cystadenoma"} {"id": "EFO_0002507", "parentIds": ["EFO_0000232", "MONDO_0036976", "EFO_1000116", "MONDO_0002229"], "name": "ovarian adenoma benign"} {"id": "EFO_0002509", "parentIds": ["MONDO_0009637"], "name": "progressive external ophthalmoplegia"} -{"id": "EFO_0002510", "parentIds": ["EFO_0002424", "EFO_0005771"], "name": "serous cystadenofibroma"} +{"id": "EFO_0002510", "parentIds": ["EFO_0002424"], "name": "serous cystadenofibroma"} {"id": "EFO_0002511", "parentIds": ["MONDO_0002369", "EFO_0002507"], "name": "simple cystadenoma"} -{"id": "EFO_0002517", "parentIds": ["EFO_1000044"], "name": "pancreatic ductal adenocarcinoma"} {"id": "EFO_0002546", "parentIds": ["HP_0011014"], "name": "abnormal glucose tolerance"} {"id": "EFO_0002571", "parentIds": [], "name": "medical procedure"} {"id": "EFO_0002581", "parentIds": ["EFO_0002571"], "name": "pancreatectomy"} -{"id": "EFO_0002608", "parentIds": ["MONDO_0021669", "MONDO_0001627"], "name": "AIDS dementia"} +{"id": "EFO_0002608", "parentIds": ["EFO_1001456", "MONDO_0021669", "MONDO_0001627"], "name": "AIDS dementia"} {"id": "EFO_0002609", "parentIds": ["EFO_0005856", "EFO_0005140", "EFO_0005755"], "name": "juvenile idiopathic arthritis"} {"id": "EFO_0002610", "parentIds": ["EFO_0003890"], "name": "cocaine dependence"} -{"id": "EFO_0002612", "parentIds": ["EFO_0007309"], "name": "human herpesvirus 8 infection"} +{"id": "EFO_0002612", "parentIds": ["MONDO_0100329"], "name": "human herpesvirus 8 infection"} {"id": "EFO_0002613", "parentIds": ["EFO_0000558", "MONDO_0043544"], "name": "iatrogenic Kaposi's sarcoma"} {"id": "EFO_0002614", "parentIds": ["HP_0001939"], "name": "insulin resistance"} {"id": "EFO_0002615", "parentIds": ["EFO_0003763", "EFO_0003781"], "name": "internal carotid artery stenosis"} @@ -11168,7 +13913,7 @@ {"id": "EFO_0002617", "parentIds": ["EFO_0000756"], "name": "metastatic melanoma"} {"id": "EFO_0002618", "parentIds": ["EFO_1000218", "MONDO_0002116"], "name": "pancreatic carcinoma"} {"id": "EFO_0002621", "parentIds": ["MONDO_0024474", "MONDO_0021259"], "name": "prostate intraepithelial neoplasia"} -{"id": "EFO_0002622", "parentIds": ["EFO_0010282", "MONDO_0100329"], "name": "rotavirus infection"} +{"id": "EFO_0002622", "parentIds": ["MONDO_0043424", "MONDO_0100329"], "name": "rotavirus infection"} {"id": "EFO_0002623", "parentIds": ["EFO_0000771", "MONDO_0043424", "EFO_0008588"], "name": "septic peritonitis"} {"id": "EFO_0002626", "parentIds": ["MONDO_0003393", "MONDO_0002334", "EFO_0003769"], "name": "thymus neoplasm"} {"id": "EFO_0002627", "parentIds": ["MONDO_0002195"], "name": "vulvar intraepithelial neoplasia"} @@ -11181,7 +13926,7 @@ {"id": "EFO_0002756", "parentIds": ["GO_0007610"], "name": "fasting"} {"id": "EFO_0002890", "parentIds": ["MONDO_0002367", "EFO_0000313"], "name": "renal carcinoma"} {"id": "EFO_0002892", "parentIds": ["EFO_0000313", "MONDO_0002108"], "name": "thyroid carcinoma"} -{"id": "EFO_0002893", "parentIds": ["EFO_0009549", "EFO_0000514", "MONDO_0002872"], "name": "choriocarcinoma"} +{"id": "EFO_0002893", "parentIds": ["MONDO_0021148", "EFO_0000514", "MONDO_0002872"], "name": "choriocarcinoma"} {"id": "EFO_0002894", "parentIds": ["EFO_1001937", "EFO_0000389"], "name": "amelanotic skin melanoma"} {"id": "EFO_0002913", "parentIds": ["MONDO_0018898"], "name": "Cutaneous T-cell lymphoma"} {"id": "EFO_0002914", "parentIds": ["EFO_0007532", "EFO_0000691"], "name": "uterine sarcoma"} @@ -11192,9 +13937,9 @@ {"id": "EFO_0002920", "parentIds": ["MONDO_0001528", "EFO_1001968"], "name": "vulva sarcoma"} {"id": "EFO_0002921", "parentIds": ["EFO_0000313", "MONDO_0001528"], "name": "vulvar carcinoma"} {"id": "EFO_0002938", "parentIds": ["MONDO_0002038", "MONDO_0021345", "EFO_0007321"], "name": "hypopharyngeal carcinoma"} -{"id": "EFO_0002939", "parentIds": ["MONDO_0016708", "MONDO_0002913"], "name": "medulloblastoma"} -{"id": "EFO_0002945", "parentIds": ["EFO_0000508", "EFO_0000318"], "name": "familial cardiomyopathy"} -{"id": "EFO_0002950", "parentIds": ["GO_0000003"], "name": "pregnancy"} +{"id": "EFO_0002939", "parentIds": ["EFO_0005784", "MONDO_0002913"], "name": "medulloblastoma"} +{"id": "EFO_0002945", "parentIds": ["MONDO_0100547", "EFO_0000318"], "name": "familial cardiomyopathy"} +{"id": "EFO_0002950", "parentIds": ["GO_0022414"], "name": "pregnancy"} {"id": "EFO_0002970", "parentIds": ["EFO_0009676"], "name": "muscular disease"} {"id": "EFO_0003014", "parentIds": ["EFO_0009483", "EFO_0010285"], "name": "breast fibrocystic disease"} {"id": "EFO_0003015", "parentIds": ["GO_0007610"], "name": "aggressive behavior"} @@ -11213,7 +13958,7 @@ {"id": "EFO_0003047", "parentIds": ["EFO_0004196"], "name": "hepatitis C virus infection"} {"id": "EFO_0003050", "parentIds": ["EFO_0003060", "MONDO_0005232"], "name": "large cell lung carcinoma"} {"id": "EFO_0003060", "parentIds": ["EFO_0001071"], "name": "non-small cell lung carcinoma"} -{"id": "EFO_0003063", "parentIds": ["MONDO_0015923", "MONDO_0020122", "EFO_1002003", "EFO_0003086"], "name": "polymyositis"} +{"id": "EFO_0003063", "parentIds": ["MONDO_0020122", "EFO_1002003", "EFO_0003086", "EFO_0003100"], "name": "polymyositis"} {"id": "EFO_0003073", "parentIds": ["EFO_0001378"], "name": "asymptomatic myeloma"} {"id": "EFO_0003075", "parentIds": ["EFO_0000589"], "name": "xanthoma"} {"id": "EFO_0003083", "parentIds": ["EFO_0000569"], "name": "pleomorphic liposarcoma"} @@ -11227,12 +13972,12 @@ {"id": "EFO_0003099", "parentIds": ["EFO_0005539"], "name": "Cushing syndrome"} {"id": "EFO_0003100", "parentIds": ["EFO_0009387", "EFO_1001902"], "name": "peripheral neuropathy"} {"id": "EFO_0003101", "parentIds": ["MONDO_0003001", "MONDO_0002874", "MONDO_0003510"], "name": "testicular seminoma"} -{"id": "EFO_0003102", "parentIds": ["MONDO_0002614", "EFO_0000771", "MONDO_0003225"], "name": "osteomyelitis"} -{"id": "EFO_0003103", "parentIds": ["EFO_0000771", "EFO_0009690"], "name": "urinary tract infection"} +{"id": "EFO_0003102", "parentIds": ["MONDO_0002614", "MONDO_0003225"], "name": "osteomyelitis"} +{"id": "EFO_0003103", "parentIds": ["EFO_0009690", "EFO_0005741"], "name": "urinary tract infection"} {"id": "EFO_0003104", "parentIds": ["MONDO_0036591", "MONDO_0021511", "MONDO_0036976", "EFO_0000232"], "name": "adrenocortical adenoma"} -{"id": "EFO_0003105", "parentIds": ["EFO_0000508", "MONDO_0017059", "EFO_0009488", "MONDO_0002320"], "name": "spina bifida"} +{"id": "EFO_0003105", "parentIds": ["EFO_0000508", "EFO_0009488", "MONDO_0002320"], "name": "spina bifida"} {"id": "EFO_0003106", "parentIds": ["EFO_1001991", "MONDO_0024355"], "name": "pneumonia"} -{"id": "EFO_0003108", "parentIds": ["EFO_0000508", "EFO_0004280", "HP_0000707"], "name": "essential tremor"} +{"id": "EFO_0003108", "parentIds": ["EFO_0004280", "MONDO_0100545", "HP_0000707"], "name": "essential tremor"} {"id": "EFO_0003110", "parentIds": ["EFO_0009950"], "name": "villitis"} {"id": "EFO_0003144", "parentIds": ["EFO_0003777"], "name": "heart failure"} {"id": "EFO_0003145", "parentIds": ["EFO_0003144"], "name": "high output heart failure"} @@ -11257,15 +14002,15 @@ {"id": "EFO_0003776", "parentIds": ["EFO_0002571"], "name": "coronary artery bypass"} {"id": "EFO_0003777", "parentIds": ["EFO_0000319"], "name": "heart disease"} {"id": "EFO_0003778", "parentIds": ["EFO_0000685"], "name": "psoriatic arthritis"} -{"id": "EFO_0003779", "parentIds": ["EFO_0006812"], "name": "Hashimoto's thyroiditis"} -{"id": "EFO_0003780", "parentIds": ["MONDO_0019293", "EFO_0005140", "EFO_0003086", "EFO_0000474"], "name": "Behcet's syndrome"} +{"id": "EFO_0003779", "parentIds": ["EFO_0000508", "EFO_0006812"], "name": "Hashimoto's thyroiditis"} +{"id": "EFO_0003780", "parentIds": ["MONDO_0019293", "EFO_0005140", "EFO_0003086", "EFO_0000474", "MONDO_0043218"], "name": "Behcet's syndrome"} {"id": "EFO_0003781", "parentIds": ["EFO_0003763", "MONDO_0000473"], "name": "carotid artery disease"} {"id": "EFO_0003782", "parentIds": ["EFO_1001902", "EFO_0005772"], "name": "motor neuron disease"} {"id": "EFO_0003783", "parentIds": ["EFO_1000631", "EFO_0005774", "MONDO_0008891", "EFO_0009489"], "name": "progressive bulbar palsy"} {"id": "EFO_0003784", "parentIds": ["EFO_0000651"], "name": "skin pigmentation"} {"id": "EFO_0003802", "parentIds": ["EFO_0000198"], "name": "refractory anemia"} {"id": "EFO_0003811", "parentIds": ["EFO_0000198", "MONDO_0044881"], "name": "refractory anemia with excess blasts"} -{"id": "EFO_0003812", "parentIds": ["EFO_0000198", "MONDO_0020099", "MONDO_0015194"], "name": "refractory anemia with ringed sideroblasts"} +{"id": "EFO_0003812", "parentIds": ["EFO_0000198", "MONDO_0015194"], "name": "refractory anemia with ringed sideroblasts"} {"id": "EFO_0003817", "parentIds": ["EFO_0003853", "EFO_0009673"], "name": "laryngeal neoplasm"} {"id": "EFO_0003818", "parentIds": ["EFO_0009433"], "name": "lung disease"} {"id": "EFO_0003819", "parentIds": ["MONDO_0002220"], "name": "dental caries"} @@ -11286,9 +14031,9 @@ {"id": "EFO_0003840", "parentIds": ["MONDO_0005301"], "name": "chronic progressive multiple sclerosis"} {"id": "EFO_0003841", "parentIds": ["EFO_1000627", "EFO_0003769"], "name": "thyroid neoplasm"} {"id": "EFO_0003843", "parentIds": ["EFO_0003765"], "name": "pain"} -{"id": "EFO_0003844", "parentIds": ["MONDO_0001926", "MONDO_0021066", "EFO_0003086"], "name": "ureteral neoplasm"} +{"id": "EFO_0003844", "parentIds": ["MONDO_0001926", "MONDO_0021066", "EFO_0003865"], "name": "ureteral neoplasm"} {"id": "EFO_0003846", "parentIds": ["MONDO_0021066", "EFO_0009689"], "name": "urethral neoplasm"} -{"id": "EFO_0003849", "parentIds": ["EFO_0003868"], "name": "palatal neoplasm"} +{"id": "EFO_0003849", "parentIds": ["EFO_0005950", "EFO_0003868"], "name": "palatal neoplasm"} {"id": "EFO_0003850", "parentIds": ["EFO_0005539", "EFO_0003769"], "name": "adrenal gland neoplasm"} {"id": "EFO_0003851", "parentIds": ["EFO_1000158"], "name": "meningeal neoplasm"} {"id": "EFO_0003852", "parentIds": ["EFO_0000618"], "name": "developmental disability"} @@ -11296,14 +14041,14 @@ {"id": "EFO_0003854", "parentIds": ["EFO_0003882"], "name": "postmenopausal osteoporosis"} {"id": "EFO_0003855", "parentIds": ["EFO_0000662", "EFO_0009431"], "name": "intestinal polyp"} {"id": "EFO_0003856", "parentIds": ["EFO_0002571"], "name": "dissection"} -{"id": "EFO_0003857", "parentIds": ["EFO_0004280", "EFO_0005755", "MONDO_0023603", "EFO_0000508"], "name": "arthrogryposis"} +{"id": "EFO_0003857", "parentIds": ["MONDO_0100545", "EFO_0005755", "EFO_0004280"], "name": "arthrogryposis"} {"id": "EFO_0003859", "parentIds": ["MONDO_0021148", "MONDO_0002654"], "name": "uterine neoplasm"} {"id": "EFO_0003860", "parentIds": ["EFO_0008549", "EFO_0009605"], "name": "pancreatic neoplasm"} {"id": "EFO_0003863", "parentIds": ["MONDO_0021066"], "name": "urogenital neoplasm"} {"id": "EFO_0003865", "parentIds": ["EFO_0003086", "MONDO_0021066"], "name": "kidney neoplasm"} {"id": "EFO_0003866", "parentIds": ["EFO_0009481", "MONDO_0024653"], "name": "paranasal sinus neoplasm"} {"id": "EFO_0003867", "parentIds": ["EFO_0002970"], "name": "rhabdomyolysis"} -{"id": "EFO_0003868", "parentIds": ["EFO_0008549", "EFO_1001047", "EFO_0005950"], "name": "mouth neoplasm"} +{"id": "EFO_0003868", "parentIds": ["EFO_0008549", "EFO_1001047"], "name": "mouth neoplasm"} {"id": "EFO_0003869", "parentIds": ["EFO_0009483", "MONDO_0021350", "EFO_0010285"], "name": "breast neoplasm"} {"id": "EFO_0003870", "parentIds": ["EFO_1000859"], "name": "brain aneurysm"} {"id": "EFO_0003871", "parentIds": ["EFO_0005950", "EFO_0008549", "MONDO_0001165"], "name": "tongue neoplasm"} @@ -11316,7 +14061,7 @@ {"id": "EFO_0003878", "parentIds": ["EFO_0009689", "MONDO_0005247"], "name": "urethritis"} {"id": "EFO_0003880", "parentIds": ["EFO_0009542", "EFO_0009255"], "name": "appendiceal neoplasm"} {"id": "EFO_0003881", "parentIds": ["EFO_0002571"], "name": "hysterectomy"} -{"id": "EFO_0003882", "parentIds": ["MONDO_0800064", "MONDO_0000837"], "name": "osteoporosis"} +{"id": "EFO_0003882", "parentIds": ["MONDO_0800486", "MONDO_0800064", "MONDO_0000837"], "name": "osteoporosis"} {"id": "EFO_0003884", "parentIds": ["EFO_0003086"], "name": "chronic kidney disease"} {"id": "EFO_0003888", "parentIds": ["MONDO_0000592"], "name": "attention deficit hyperactivity disorder"} {"id": "EFO_0003889", "parentIds": ["HP_0000707"], "name": "functional laterality"} @@ -11342,7 +14087,6 @@ {"id": "EFO_0003917", "parentIds": ["EFO_0000651"], "name": "premature birth"} {"id": "EFO_0003918", "parentIds": ["EFO_0003877"], "name": "obstructive sleep apnea"} {"id": "EFO_0003921", "parentIds": ["MONDO_0024635"], "name": "pouchitis"} -{"id": "EFO_0003922", "parentIds": ["EFO_0003765"], "name": "menopause"} {"id": "EFO_0003923", "parentIds": ["EFO_0004516"], "name": "bone density"} {"id": "EFO_0003924", "parentIds": ["EFO_0005038"], "name": "hair color"} {"id": "EFO_0003925", "parentIds": ["EFO_0004323"], "name": "cognition"} @@ -11381,7 +14125,7 @@ {"id": "EFO_0004126", "parentIds": ["EFO_0000618"], "name": "Adie syndrome"} {"id": "EFO_0004127", "parentIds": ["EFO_1000627"], "name": "hyperthyroxinemia"} {"id": "EFO_0004128", "parentIds": ["EFO_1002050", "MONDO_0100191"], "name": "hereditary nephritis"} -{"id": "EFO_0004129", "parentIds": ["MONDO_0020127", "MONDO_0015923", "MONDO_0017132"], "name": "familial amyloid neuropathy"} +{"id": "EFO_0004129", "parentIds": ["MONDO_0020127", "MONDO_0018634"], "name": "familial amyloid neuropathy"} {"id": "EFO_0004134", "parentIds": ["EFO_0001444"], "name": "tumor size"} {"id": "EFO_0004138", "parentIds": ["EFO_0005137"], "name": "bundle branch block"} {"id": "EFO_0004142", "parentIds": ["MONDO_0024634", "MONDO_0021118"], "name": "colorectal neoplasm"} @@ -11391,8 +14135,8 @@ {"id": "EFO_0004149", "parentIds": ["EFO_0000618"], "name": "neuropathy"} {"id": "EFO_0004152", "parentIds": ["EFO_0004280"], "name": "chorea"} {"id": "EFO_0004190", "parentIds": ["MONDO_0005041"], "name": "open-angle glaucoma"} -{"id": "EFO_0004191", "parentIds": ["MONDO_0021208", "MONDO_0021034", "Orphanet_68346"], "name": "androgenetic alopecia"} -{"id": "EFO_0004192", "parentIds": ["MONDO_0004907", "MONDO_0021034", "Orphanet_68346"], "name": "alopecia areata"} +{"id": "EFO_0004191", "parentIds": ["MONDO_0021208", "Orphanet_68346", "EFO_0000701"], "name": "androgenetic alopecia"} +{"id": "EFO_0004192", "parentIds": ["MONDO_0004907", "Orphanet_68346", "EFO_0000701"], "name": "alopecia areata"} {"id": "EFO_0004193", "parentIds": ["EFO_1001763", "EFO_0000313", "EFO_0010176"], "name": "basal cell carcinoma"} {"id": "EFO_0004194", "parentIds": ["EFO_0004128", "MONDO_0002462"], "name": "IGA glomerulonephritis"} {"id": "EFO_0004196", "parentIds": ["EFO_0001421", "MONDO_0043424", "MONDO_0100329"], "name": "viral human hepatitis infection"} @@ -11401,7 +14145,7 @@ {"id": "EFO_0004199", "parentIds": ["EFO_0004198"], "name": "dysplastic nevus"} {"id": "EFO_0004207", "parentIds": ["HP_0000545"], "name": "pathological myopia"} {"id": "EFO_0004208", "parentIds": ["EFO_0005809", "MONDO_0002406", "EFO_0005140"], "name": "Vitiligo"} -{"id": "EFO_0004209", "parentIds": ["MONDO_0015933", "EFO_0000508"], "name": "hypospadias"} +{"id": "EFO_0004209", "parentIds": ["EFO_0000512", "EFO_0000508"], "name": "hypospadias"} {"id": "EFO_0004210", "parentIds": ["EFO_0003832"], "name": "gallstones"} {"id": "EFO_0004211", "parentIds": ["EFO_0000589"], "name": "Hypertriglyceridemia"} {"id": "EFO_0004212", "parentIds": ["EFO_1000759"], "name": "Keloid"} @@ -11419,16 +14163,16 @@ {"id": "EFO_0004232", "parentIds": ["MONDO_0018438", "MONDO_0001409"], "name": "eosinophilic esophagitis"} {"id": "EFO_0004233", "parentIds": ["HP_0001881"], "name": "leukopenia"} {"id": "EFO_0004234", "parentIds": ["MONDO_0002036", "MONDO_0002134"], "name": "erectile dysfunction"} -{"id": "EFO_0004235", "parentIds": ["MONDO_0002289", "MONDO_0018174", "MONDO_0001554"], "name": "exfoliation syndrome"} +{"id": "EFO_0004235", "parentIds": ["MONDO_0018174", "MONDO_0002289", "MONDO_0001554"], "name": "exfoliation syndrome"} {"id": "EFO_0004236", "parentIds": ["MONDO_0000490"], "name": "focal segmental glomerulosclerosis"} {"id": "EFO_0004237", "parentIds": ["EFO_0004283", "EFO_0006812", "MONDO_0001104"], "name": "Graves disease"} {"id": "EFO_0004238", "parentIds": ["MONDO_0021945"], "name": "hearing loss"} {"id": "EFO_0004239", "parentIds": ["EFO_0004197"], "name": "chronic hepatitis B virus infection"} {"id": "EFO_0004240", "parentIds": ["EFO_0005611"], "name": "heroin dependence"} -{"id": "EFO_0004242", "parentIds": ["EFO_0000508", "EFO_0006788"], "name": "obsessive-compulsive disorder"} +{"id": "EFO_0004242", "parentIds": ["MONDO_0100545", "EFO_0006788"], "name": "obsessive-compulsive disorder"} {"id": "EFO_0004243", "parentIds": ["EFO_1001901"], "name": "carcinoid tumor"} {"id": "EFO_0004244", "parentIds": ["EFO_0003818"], "name": "interstitial lung disease"} -{"id": "EFO_0004246", "parentIds": ["MONDO_0002052", "MONDO_0015489"], "name": "mucocutaneous lymph node syndrome"} +{"id": "EFO_0004246", "parentIds": ["MONDO_0002052", "EFO_0006803", "EFO_0000508"], "name": "mucocutaneous lymph node syndrome"} {"id": "EFO_0004247", "parentIds": ["EFO_0000677"], "name": "mood disorder"} {"id": "EFO_0004248", "parentIds": ["EFO_0000545", "EFO_0009555"], "name": "male infertility"} {"id": "EFO_0004249", "parentIds": ["EFO_0000771"], "name": "meningococcal infection"} @@ -11437,16 +14181,16 @@ {"id": "EFO_0004253", "parentIds": ["MONDO_0024647", "EFO_0003086"], "name": "nephrolithiasis"} {"id": "EFO_0004254", "parentIds": ["MONDO_0002462"], "name": "membranous glomerulonephritis"} {"id": "EFO_0004255", "parentIds": ["MONDO_0002331"], "name": "nephrotic syndrome"} -{"id": "EFO_0004256", "parentIds": ["MONDO_0044685", "EFO_0000618", "MONDO_0005301"], "name": "neuromyelitis optica"} +{"id": "EFO_0004256", "parentIds": ["MONDO_0004884", "MONDO_0044685", "EFO_0000618", "MONDO_0005301"], "name": "neuromyelitis optica"} {"id": "EFO_0004257", "parentIds": ["EFO_0006788"], "name": "neurotic disorder"} {"id": "EFO_0004259", "parentIds": ["EFO_0004260"], "name": "osteonecrosis"} {"id": "EFO_0004260", "parentIds": ["EFO_0002461"], "name": "bone disease"} -{"id": "EFO_0004261", "parentIds": ["MONDO_0002185", "EFO_0000508"], "name": "osteitis deformans"} +{"id": "EFO_0004261", "parentIds": ["MONDO_0002185", "EFO_0000508", "MONDO_0800486"], "name": "osteitis deformans"} {"id": "EFO_0004262", "parentIds": ["EFO_0006788"], "name": "panic disorder"} {"id": "EFO_0004263", "parentIds": ["EFO_0000474"], "name": "partial epilepsy"} {"id": "EFO_0004264", "parentIds": ["EFO_0000319"], "name": "vascular disease"} {"id": "EFO_0004265", "parentIds": ["MONDO_0000473", "EFO_0003914", "EFO_0003875"], "name": "peripheral arterial disease"} -{"id": "EFO_0004266", "parentIds": ["EFO_0005771", "EFO_0009003"], "name": "primary ovarian insufficiency"} +{"id": "EFO_0004266", "parentIds": ["EFO_0009003"], "name": "primary ovarian insufficiency"} {"id": "EFO_0004267", "parentIds": ["EFO_0001422"], "name": "biliary liver cirrhosis"} {"id": "EFO_0004268", "parentIds": ["EFO_0001421", "MONDO_0004789"], "name": "sclerosing cholangitis"} {"id": "EFO_0004269", "parentIds": ["EFO_0003777"], "name": "cardiac arrhythmia"} @@ -11520,7 +14264,6 @@ {"id": "EFO_0004350", "parentIds": ["EFO_0003925"], "name": "reasoning"} {"id": "EFO_0004351", "parentIds": ["EFO_0004326"], "name": "resting heart rate"} {"id": "EFO_0004352", "parentIds": ["EFO_0004557"], "name": "mortality"} -{"id": "EFO_0004354", "parentIds": ["GO_0008150"], "name": "circadian rhythm"} {"id": "EFO_0004357", "parentIds": ["EFO_0004464"], "name": "electroencephalogram measurement"} {"id": "EFO_0004358", "parentIds": ["EFO_0004357"], "name": "event-related brain oscillation"} {"id": "EFO_0004362", "parentIds": ["GO_0008150"], "name": "psychomotor performance"} @@ -11573,7 +14316,7 @@ {"id": "EFO_0004535", "parentIds": ["EFO_0004747"], "name": "serum albumin measurement"} {"id": "EFO_0004536", "parentIds": ["EFO_0004503"], "name": "total blood protein measurement"} {"id": "EFO_0004537", "parentIds": ["MONDO_0007915", "MONDO_0018356"], "name": "neonatal systemic lupus erythematosus"} -{"id": "EFO_0004540", "parentIds": ["MONDO_0003939", "EFO_0000618", "MONDO_0021094", "EFO_0002970"], "name": "chronic fatigue syndrome"} +{"id": "EFO_0004540", "parentIds": ["MONDO_0003939", "MONDO_0021094", "EFO_0002970", "MONDO_0100545"], "name": "chronic fatigue syndrome"} {"id": "EFO_0004541", "parentIds": ["EFO_0004468", "EFO_0004509", "EFO_0004555"], "name": "HbA1c measurement"} {"id": "EFO_0004550", "parentIds": ["EFO_0006848"], "name": "amygdala reactivity measurement"} {"id": "EFO_0004554", "parentIds": ["EFO_0001444"], "name": "genomic measurement"} @@ -11608,7 +14351,7 @@ {"id": "EFO_0004595", "parentIds": ["GO_0008150"], "name": "HIV mother to child transmission"} {"id": "EFO_0004596", "parentIds": ["EFO_0009486", "MONDO_0005129"], "name": "diabetes mellitus type 2 associated cataract"} {"id": "EFO_0004599", "parentIds": ["EFO_0000540"], "name": "acute graft vs. host disease"} -{"id": "EFO_0004606", "parentIds": ["EFO_0008550", "EFO_0003832"], "name": "gallbladder neoplasm"} +{"id": "EFO_0004606", "parentIds": ["EFO_0003891", "EFO_0008550", "EFO_0003832"], "name": "gallbladder neoplasm"} {"id": "EFO_0004607", "parentIds": ["MONDO_0004247", "MONDO_0002866"], "name": "duodenal ulcer"} {"id": "EFO_0004608", "parentIds": ["EFO_0010238", "MONDO_0004567"], "name": "cystic fibrosis associated meconium ileus"} {"id": "EFO_0004609", "parentIds": ["MONDO_0005090"], "name": "treatment refractory schizophrenia"} @@ -11625,7 +14368,6 @@ {"id": "EFO_0004621", "parentIds": ["EFO_0004843"], "name": "vitamin B6 measurement"} {"id": "EFO_0004622", "parentIds": ["EFO_0004529"], "name": "sphingolipid measurement"} {"id": "EFO_0004623", "parentIds": ["EFO_0004747", "EFO_0004634", "EFO_0004503"], "name": "fibrinogen measurement"} -{"id": "EFO_0004624", "parentIds": ["EFO_0004747", "EFO_0005127"], "name": "prostate specific antigen measurement"} {"id": "EFO_0004625", "parentIds": ["EFO_0001444"], "name": "progranulin measurement"} {"id": "EFO_0004626", "parentIds": ["EFO_0005127", "EFO_0004747"], "name": "IGFBP-3 measurement"} {"id": "EFO_0004627", "parentIds": ["EFO_0005127", "EFO_0004730", "EFO_0004747"], "name": "IGF-1 measurement"} @@ -11644,7 +14386,6 @@ {"id": "EFO_0004642", "parentIds": ["EFO_0006848", "EFO_0004730", "EFO_0004529"], "name": "cortisol secretion measurement"} {"id": "EFO_0004644", "parentIds": ["EFO_0005278"], "name": "TPE interval measurement"} {"id": "EFO_0004645", "parentIds": ["GO_0009410"], "name": "response to vaccine"} -{"id": "EFO_0004647", "parentIds": ["GO_0097327"], "name": "response to platinum based chemotherapy"} {"id": "EFO_0004653", "parentIds": ["GO_0009410"], "name": "response to TNF antagonist"} {"id": "EFO_0004670", "parentIds": ["EFO_0006514", "EFO_0004747"], "name": "beta-amyloid 1-42 measurement"} {"id": "EFO_0004682", "parentIds": ["EFO_0004327", "EFO_0000719"], "name": "QT interval"} @@ -11667,7 +14408,7 @@ {"id": "EFO_0004710", "parentIds": ["EFO_0000512"], "name": "pelvic organ prolapse"} {"id": "EFO_0004711", "parentIds": ["MONDO_0019297"], "name": "elephantiasis"} {"id": "EFO_0004712", "parentIds": ["EFO_0004711"], "name": "podoconiosis"} -{"id": "EFO_0004713", "parentIds": ["EFO_0006841", "EFO_0003892"], "name": "FEV/FEC ratio"} +{"id": "EFO_0004713", "parentIds": ["EFO_0006841", "EFO_0003892"], "name": "FEV/FVC ratio"} {"id": "EFO_0004714", "parentIds": ["HP_0000708"], "name": "sexual dysfunction"} {"id": "EFO_0004715", "parentIds": ["EFO_0004277"], "name": "MRI defined brain infarct"} {"id": "EFO_0004718", "parentIds": ["EFO_0003763", "MONDO_0001627"], "name": "vascular dementia"} @@ -11732,7 +14473,7 @@ {"id": "EFO_0004792", "parentIds": ["EFO_0004747"], "name": "plasminogen activator inhibitor 1 measurement"} {"id": "EFO_0004795", "parentIds": ["EFO_1000752"], "name": "skin sensitivity to sun"} {"id": "EFO_0004798", "parentIds": ["EFO_0004554"], "name": "copy number variation"} -{"id": "EFO_0004799", "parentIds": ["MONDO_0700225", "EFO_1000018"], "name": "cholelithiasis"} +{"id": "EFO_0004799", "parentIds": ["EFO_1000018", "MONDO_0700225"], "name": "cholelithiasis"} {"id": "EFO_0004800", "parentIds": ["EFO_0001444"], "name": "frontal theta oscillation measurement"} {"id": "EFO_0004802", "parentIds": ["EFO_0001444"], "name": "family size"} {"id": "EFO_0004803", "parentIds": ["EFO_0000651"], "name": "male fertility"} @@ -11755,7 +14496,6 @@ {"id": "EFO_0004825", "parentIds": ["EFO_0001444"], "name": "temperament and character inventory"} {"id": "EFO_0004826", "parentIds": ["EFO_0005809", "EFO_0005140"], "name": "anti-neutrophil antibody associated vasculitis"} {"id": "EFO_0004828", "parentIds": ["EFO_0004557", "EFO_0004554"], "name": "genetic variation"} -{"id": "EFO_0004829", "parentIds": ["GO_0097327"], "name": "response to irinotecan"} {"id": "EFO_0004830", "parentIds": ["EFO_0006930", "EFO_0006514"], "name": "caudate nucleus volume"} {"id": "EFO_0004831", "parentIds": ["EFO_0004327"], "name": "RR interval"} {"id": "EFO_0004832", "parentIds": ["EFO_0006936"], "name": "optic disc size measurement"} @@ -11798,7 +14538,7 @@ {"id": "EFO_0004890", "parentIds": ["GO_0007610"], "name": "anti-social behavior"} {"id": "EFO_0004891", "parentIds": ["GO_0007610"], "name": "callous character"} {"id": "EFO_0004893", "parentIds": ["EFO_0009601", "MONDO_0001967"], "name": "testicular dysgenesis syndrome"} -{"id": "EFO_0004895", "parentIds": ["MONDO_0002420", "EFO_0004280", "EFO_0000508"], "name": "Tourette syndrome"} +{"id": "EFO_0004895", "parentIds": ["MONDO_0002420", "EFO_0004280", "MONDO_0100545"], "name": "Tourette syndrome"} {"id": "EFO_0004906", "parentIds": ["MONDO_0001082"], "name": "lymph node metastatic carcinoma"} {"id": "EFO_0004908", "parentIds": ["EFO_0004529", "EFO_0011008"], "name": "testosterone measurement"} {"id": "EFO_0004909", "parentIds": ["EFO_0004730"], "name": "dihydrotestosterone measurement"} @@ -11825,7 +14565,7 @@ {"id": "EFO_0004984", "parentIds": ["EFO_0006846", "EFO_0004555"], "name": "complement C4 measurement"} {"id": "EFO_0004985", "parentIds": ["EFO_0005278", "EFO_0005036"], "name": "platelet reactivity measurement"} {"id": "EFO_0004986", "parentIds": ["MONDO_0003578"], "name": "embryonal carcinoma"} -{"id": "EFO_0004991", "parentIds": ["MONDO_0018743", "MONDO_0000590", "MONDO_0015923", "EFO_0005140"], "name": "Myasthenia gravis"} +{"id": "EFO_0004991", "parentIds": ["MONDO_0000774", "MONDO_0000590", "EFO_0005140"], "name": "Myasthenia gravis"} {"id": "EFO_0004992", "parentIds": ["MONDO_0003276"], "name": "Otitis media"} {"id": "EFO_0004993", "parentIds": ["EFO_0001444"], "name": "serum IgM measurement"} {"id": "EFO_0004994", "parentIds": ["EFO_0009477", "MONDO_0000812", "EFO_0000508"], "name": "lumbar disc degeneration"} @@ -11883,7 +14623,7 @@ {"id": "EFO_0005126", "parentIds": ["EFO_0005278", "EFO_0004747"], "name": "arylesterase enzyme measurement"} {"id": "EFO_0005127", "parentIds": ["EFO_0001444"], "name": "cancer biomarker measurement"} {"id": "EFO_0005128", "parentIds": ["EFO_0004311", "EFO_0004503", "EFO_0004747"], "name": "albumin:globulin ratio measurement"} -{"id": "EFO_0005129", "parentIds": ["MONDO_0017341", "EFO_0001422"], "name": "hepatitis C induced liver cirrhosis"} +{"id": "EFO_0005129", "parentIds": ["MONDO_0017341", "MONDO_0043424", "EFO_0001422"], "name": "hepatitis C induced liver cirrhosis"} {"id": "EFO_0005130", "parentIds": ["EFO_0005134", "EFO_0004730"], "name": "thyroxine measurement"} {"id": "EFO_0005131", "parentIds": ["EFO_0006848"], "name": "HVA measurement"} {"id": "EFO_0005132", "parentIds": ["EFO_0004725", "EFO_0005127"], "name": "5-HIAA measurement"} @@ -11908,10 +14648,8 @@ {"id": "EFO_0005199", "parentIds": ["EFO_0005198", "EFO_0004742"], "name": "renal transplant outcome measurement"} {"id": "EFO_0005200", "parentIds": ["EFO_0006846", "EFO_0004556"], "name": "antiphospholipid antibody measurement"} {"id": "EFO_0005201", "parentIds": ["EFO_0004324"], "name": "height growth measurement"} -{"id": "EFO_0005202", "parentIds": ["EFO_0007981"], "name": "response to hydrochlorothiazide"} {"id": "EFO_0005203", "parentIds": ["EFO_0000677", "MONDO_0002025", "EFO_0001069"], "name": "eating disorder"} {"id": "EFO_0005204", "parentIds": ["EFO_0005203"], "name": "bulimia nervosa"} -{"id": "EFO_0005205", "parentIds": ["GO_0061476"], "name": "response to dabigatran etexilate"} {"id": "EFO_0005206", "parentIds": ["EFO_0001444"], "name": "oligoclonal band measurement"} {"id": "EFO_0005207", "parentIds": ["EFO_0003777", "MONDO_0024239"], "name": "congenital heart disease"} {"id": "EFO_0005208", "parentIds": ["EFO_0004742"], "name": "glomerular filtration rate"} @@ -11928,7 +14666,7 @@ {"id": "EFO_0005229", "parentIds": ["EFO_0003925"], "name": "reading"} {"id": "EFO_0005230", "parentIds": ["HP_0000708"], "name": "anxiety"} {"id": "EFO_0005232", "parentIds": ["EFO_1001512", "EFO_0000228"], "name": "endometrium adenocarcinoma"} -{"id": "EFO_0005235", "parentIds": ["MONDO_0016708", "EFO_0009386"], "name": "primitive neuroectodermal tumor"} +{"id": "EFO_0005235", "parentIds": ["EFO_0005784", "MONDO_0021193"], "name": "primitive neuroectodermal tumor"} {"id": "EFO_0005239", "parentIds": ["EFO_0009531"], "name": "aortic valve calcification"} {"id": "EFO_0005240", "parentIds": ["EFO_0005773"], "name": "rhegmatogenous retinal detachment"} {"id": "EFO_0005241", "parentIds": ["EFO_0001444"], "name": "employment status"} @@ -11960,14 +14698,14 @@ {"id": "EFO_0005279", "parentIds": ["EFO_1000999"], "name": "temporomandibular joint disorder"} {"id": "EFO_0005280", "parentIds": ["EFO_0004870"], "name": "sleep latency"} {"id": "EFO_0005287", "parentIds": ["MONDO_0000612", "EFO_0000691", "MONDO_0020082"], "name": "reticulum cell sarcoma"} -{"id": "EFO_0005288", "parentIds": ["EFO_0003060", "EFO_0000228"], "name": "non-small cell lung adenocarcinoma"} +{"id": "EFO_0005288", "parentIds": ["EFO_0000571"], "name": "non-small cell lung adenocarcinoma"} {"id": "EFO_0005297", "parentIds": ["EFO_0000540", "MONDO_0002462", "MONDO_0015492", "EFO_0005140"], "name": "Granulomatosis with Polyangiitis"} {"id": "EFO_0005298", "parentIds": ["EFO_0007008"], "name": "allergic sensitization measurement"} {"id": "EFO_0005299", "parentIds": ["EFO_0005229"], "name": "non-word reading"} {"id": "EFO_0005300", "parentIds": ["EFO_0005229"], "name": "word reading"} {"id": "EFO_0005301", "parentIds": ["EFO_0005229"], "name": "reading and spelling ability"} {"id": "EFO_0005303", "parentIds": ["OTAR_0000018"], "name": "sudden infant death syndrome"} -{"id": "EFO_0005304", "parentIds": ["EFO_0005137"], "name": "atrial conduction disease"} +{"id": "EFO_0005304", "parentIds": ["EFO_0005137", "MONDO_0100547"], "name": "atrial conduction disease"} {"id": "EFO_0005305", "parentIds": ["EFO_0002970", "EFO_0005137"], "name": "atrioventricular node disease"} {"id": "EFO_0005306", "parentIds": ["MONDO_0007263", "EFO_0004269"], "name": "ventricular tachycardia"} {"id": "EFO_0005307", "parentIds": ["EFO_0005306"], "name": "torsades de pointes"} @@ -11980,7 +14718,7 @@ {"id": "EFO_0005323", "parentIds": ["EFO_0003765"], "name": "post-operative sign or symptom"} {"id": "EFO_0005324", "parentIds": ["EFO_0005323"], "name": "post-operative sensory disturbance"} {"id": "EFO_0005325", "parentIds": ["GO_0009410"], "name": "response to angiotensin-converting enzyme inhibitor"} -{"id": "EFO_0005400", "parentIds": ["Orphanet_68346", "OTAR_0000009", "MONDO_0021034", "MONDO_0004907"], "name": "chemotherapy-induced alopecia"} +{"id": "EFO_0005400", "parentIds": ["Orphanet_68346", "OTAR_0000009", "EFO_0000701", "MONDO_0004907"], "name": "chemotherapy-induced alopecia"} {"id": "EFO_0005401", "parentIds": ["EFO_0010757"], "name": "response to high sodium diet"} {"id": "EFO_0005402", "parentIds": ["EFO_0010757"], "name": "response to low sodium diet"} {"id": "EFO_0005403", "parentIds": ["EFO_0010757"], "name": "response to dietary potassium supplementation"} @@ -12002,7 +14740,7 @@ {"id": "EFO_0005419", "parentIds": ["EFO_0004731"], "name": "contrast sensitivity measurement"} {"id": "EFO_0005420", "parentIds": ["EFO_0006930", "EFO_0006848"], "name": "grey matter volume measurement"} {"id": "EFO_0005421", "parentIds": ["EFO_0001444"], "name": "serum homoarginine measurement"} -{"id": "EFO_0005422", "parentIds": ["GO_0007568"], "name": "skin aging"} +{"id": "EFO_0005422", "parentIds": ["EFO_0022597"], "name": "skin aging"} {"id": "EFO_0005423", "parentIds": ["MONDO_0000726"], "name": "adolescent idiopathic scoliosis"} {"id": "EFO_0005424", "parentIds": ["MONDO_0001697"], "name": "dyslexia"} {"id": "EFO_0005425", "parentIds": ["EFO_1001510"], "name": "language impairment"} @@ -12016,7 +14754,6 @@ {"id": "EFO_0005513", "parentIds": ["EFO_0001444"], "name": "progesterone receptor status"} {"id": "EFO_0005514", "parentIds": ["EFO_0001444"], "name": "HER2 status"} {"id": "EFO_0005524", "parentIds": ["EFO_0000712", "MONDO_0000473"], "name": "large artery stroke"} -{"id": "EFO_0005526", "parentIds": ["GO_0050896"], "name": "response to alcohol"} {"id": "EFO_0005527", "parentIds": ["EFO_0005278"], "name": "ejection fraction measurement"} {"id": "EFO_0005528", "parentIds": ["EFO_0006843"], "name": "parasitemia measurement"} {"id": "EFO_0005529", "parentIds": ["MONDO_0021669", "EFO_0008559", "EFO_0000318"], "name": "Chagas cardiomyopathy"} @@ -12031,14 +14768,14 @@ {"id": "EFO_0005539", "parentIds": ["EFO_0001379"], "name": "adrenal gland disease"} {"id": "EFO_0005540", "parentIds": ["MONDO_0003059", "MONDO_0018531"], "name": "bile duct carcinoma"} {"id": "EFO_0005541", "parentIds": ["EFO_0004260"], "name": "bone development disease"} -{"id": "EFO_0005542", "parentIds": ["MONDO_0020010", "MONDO_0000314", "MONDO_0020125", "EFO_1000874"], "name": "botulism"} -{"id": "EFO_0005543", "parentIds": ["EFO_0009386", "MONDO_0021193"], "name": "glioma"} +{"id": "EFO_0005542", "parentIds": ["MONDO_0000314", "EFO_1000874"], "name": "botulism"} +{"id": "EFO_0005543", "parentIds": ["MONDO_0021193", "EFO_1000158"], "name": "glioma"} {"id": "EFO_0005545", "parentIds": ["MONDO_0015286"], "name": "congenital disorder of glycosylation type I"} {"id": "EFO_0005546", "parentIds": ["MONDO_0015286"], "name": "congenital disorder of glycosylation type II"} {"id": "EFO_0005547", "parentIds": ["EFO_0007274", "MONDO_0100120"], "name": "dengue disease"} {"id": "EFO_0005548", "parentIds": ["EFO_0000677"], "name": "developmental disorder of mental health"} {"id": "EFO_0005549", "parentIds": ["MONDO_0000314"], "name": "diphtheria"} -{"id": "EFO_0005551", "parentIds": ["MONDO_0016729", "EFO_0003833"], "name": "dysembryoplastic neuroepithelial tumor"} +{"id": "EFO_0005551", "parentIds": ["EFO_0003833", "MONDO_0016729"], "name": "dysembryoplastic neuroepithelial tumor"} {"id": "EFO_0005553", "parentIds": ["MONDO_0002206", "MONDO_0002090"], "name": "eccrine sweat gland cancer"} {"id": "EFO_0005555", "parentIds": ["MONDO_0031520", "MONDO_0044200"], "name": "gamma chain deficiency"} {"id": "EFO_0005556", "parentIds": ["MONDO_0002408"], "name": "Gilbert syndrome"} @@ -12053,12 +14790,12 @@ {"id": "EFO_0005569", "parentIds": ["EFO_0003966"], "name": "microphthalmia"} {"id": "EFO_0005570", "parentIds": ["EFO_0006859", "EFO_0003868", "MONDO_0002516"], "name": "oral cavity cancer"} {"id": "EFO_0005571", "parentIds": ["EFO_0005541"], "name": "osteochondrodysplasia"} -{"id": "EFO_0005576", "parentIds": ["EFO_1001067", "MONDO_0001700", "EFO_0000508", "EFO_0010283", "MONDO_0019052"], "name": "pernicious anemia"} +{"id": "EFO_0005576", "parentIds": ["EFO_1001067", "MONDO_0001700", "EFO_0000508", "EFO_0010283"], "name": "pernicious anemia"} {"id": "EFO_0005577", "parentIds": ["MONDO_0021246", "MONDO_0021310", "MONDO_0020592", "MONDO_0002516", "MONDO_0000376"], "name": "pharynx cancer"} {"id": "EFO_0005578", "parentIds": ["MONDO_0021069", "MONDO_0017611", "MONDO_0002132", "MONDO_0003766"], "name": "pituitary cancer"} {"id": "EFO_0005579", "parentIds": ["MONDO_0024665"], "name": "pseudohermaphroditism"} -{"id": "EFO_0005580", "parentIds": ["MONDO_0001703", "EFO_0003966", "Orphanet_98658"], "name": "red color blindness"} -{"id": "EFO_0005581", "parentIds": ["Orphanet_98658", "MONDO_0000014"], "name": "red-green color blindness"} +{"id": "EFO_0005580", "parentIds": ["MONDO_0100545", "MONDO_0001703", "EFO_0003966", "Orphanet_98658"], "name": "red color blindness"} +{"id": "EFO_0005581", "parentIds": ["MONDO_0000014", "MONDO_0100545", "Orphanet_98658"], "name": "red-green color blindness"} {"id": "EFO_0005582", "parentIds": ["EFO_0002890", "MONDO_0044919"], "name": "renal pelvis carcinoma"} {"id": "EFO_0005583", "parentIds": ["MONDO_0000833"], "name": "rickets"} {"id": "EFO_0005584", "parentIds": ["EFO_1000720", "MONDO_0100118"], "name": "seborrheic keratosis"} @@ -12068,7 +14805,7 @@ {"id": "EFO_0005591", "parentIds": ["EFO_1001183", "EFO_0000228", "MONDO_0002206"], "name": "sweat gland carcinoma"} {"id": "EFO_0005592", "parentIds": ["MONDO_0004805", "EFO_0004289"], "name": "T-cell leukemia"} {"id": "EFO_0005593", "parentIds": ["MONDO_0000314", "MONDO_0020010", "EFO_1000874"], "name": "tetanus"} -{"id": "EFO_0005595", "parentIds": ["EFO_0000546", "EFO_0000618"], "name": "toxic encephalopathy"} +{"id": "EFO_0005595", "parentIds": ["EFO_0009490", "EFO_0000618"], "name": "toxic encephalopathy"} {"id": "EFO_0005596", "parentIds": ["MONDO_0019052", "MONDO_0024298"], "name": "vitamin metabolic disorder"} {"id": "EFO_0005597", "parentIds": ["EFO_0000508"], "name": "methylmalonic aciduria and homocystinuria type cblG"} {"id": "EFO_0005600", "parentIds": ["HP_0001679"], "name": "abdominal aortic fatty streak"} @@ -12094,7 +14831,6 @@ {"id": "EFO_0005649", "parentIds": ["MONDO_0000836", "MONDO_0045002"], "name": "spondylolysis"} {"id": "EFO_0005653", "parentIds": ["EFO_0004725"], "name": "serum metabolite measurement"} {"id": "EFO_0005654", "parentIds": ["EFO_0004516"], "name": "velocity of sound measurement"} -{"id": "EFO_0005655", "parentIds": ["GO_0097327"], "name": "response to cytosine arabinoside"} {"id": "EFO_0005657", "parentIds": ["GO_0009410"], "name": "response to protease inhibitor"} {"id": "EFO_0005658", "parentIds": ["GO_0036276"], "name": "response to selective serotonin reuptake inhibitor"} {"id": "EFO_0005659", "parentIds": ["EFO_0006514"], "name": "plasma beta-amyloid 1-40 measurement"} @@ -12125,7 +14861,7 @@ {"id": "EFO_0005690", "parentIds": ["EFO_0003925"], "name": "musical aptitude"} {"id": "EFO_0005691", "parentIds": ["EFO_0001444"], "name": "plasma trimethylamine N-oxide measurement"} {"id": "EFO_0005699", "parentIds": ["EFO_0002939"], "name": "desmoplastic medulloblastoma"} -{"id": "EFO_0005701", "parentIds": ["EFO_0003086", "EFO_0005784", "EFO_1001968"], "name": "malignant rhabdoid tumour"} +{"id": "EFO_0005701", "parentIds": ["EFO_0005784", "EFO_1001968"], "name": "malignant rhabdoid tumour"} {"id": "EFO_0005708", "parentIds": ["EFO_0000681"], "name": "renal cell adenocarcinoma"} {"id": "EFO_0005716", "parentIds": ["EFO_1000509", "MONDO_0002236"], "name": "retinal cancer"} {"id": "EFO_0005717", "parentIds": ["MONDO_0008380"], "name": "retinoblastoma (nonhereditary)"} @@ -12148,7 +14884,7 @@ {"id": "EFO_0005769", "parentIds": ["EFO_0009556"], "name": "calcium metabolic disease"} {"id": "EFO_0005771", "parentIds": ["EFO_0009549", "MONDO_0002259"], "name": "ovarian disease"} {"id": "EFO_0005772", "parentIds": ["EFO_0009386"], "name": "neurodegenerative disease"} -{"id": "EFO_0005773", "parentIds": ["EFO_0003839", "EFO_0000508"], "name": "retinal detachment"} +{"id": "EFO_0005773", "parentIds": ["MONDO_0100545", "EFO_0003839"], "name": "retinal detachment"} {"id": "EFO_0005774", "parentIds": ["EFO_0009386"], "name": "brain disease"} {"id": "EFO_0005775", "parentIds": ["MONDO_0000473"], "name": "aortic disease"} {"id": "EFO_0005782", "parentIds": ["EFO_1001176"], "name": "age-related hearing impairment"} @@ -12173,7 +14909,6 @@ {"id": "EFO_0005850", "parentIds": ["EFO_0007626"], "name": "emphysema pattern measurement"} {"id": "EFO_0005851", "parentIds": ["EFO_0004340"], "name": "height-adjusted body mass index"} {"id": "EFO_0005852", "parentIds": ["EFO_0004464"], "name": "Heschl's gyrus morphology measurement"} -{"id": "EFO_0005853", "parentIds": ["GO_0050896"], "name": "response to silica exposure"} {"id": "EFO_0005854", "parentIds": ["MONDO_0000771", "EFO_0008521"], "name": "allergic rhinitis"} {"id": "EFO_0005855", "parentIds": ["MONDO_0021107"], "name": "narcolepsy without cataplexy"} {"id": "EFO_0005856", "parentIds": ["EFO_0005755", "MONDO_0002614", "EFO_1000999"], "name": "arthritis"} @@ -12184,7 +14919,7 @@ {"id": "EFO_0005882", "parentIds": ["GO_0042592"], "name": "iron ion homeostasis"} {"id": "EFO_0005890", "parentIds": ["EFO_0001444"], "name": "osteoarthritis biomarker measurement"} {"id": "EFO_0005895", "parentIds": ["MONDO_0023603", "EFO_0002461"], "name": "ossification of the posterior longitudinal ligament of the spine"} -{"id": "EFO_0005917", "parentIds": ["MONDO_0015653"], "name": "generalised epilepsy"} +{"id": "EFO_0005917", "parentIds": ["EFO_0000474", "MONDO_0100545"], "name": "generalised epilepsy"} {"id": "EFO_0005918", "parentIds": ["EFO_0004747", "EFO_0005278"], "name": "osteoprotegerin measurement"} {"id": "EFO_0005919", "parentIds": ["EFO_0004554"], "name": "recombination measurement"} {"id": "EFO_0005921", "parentIds": ["EFO_0006841", "EFO_0003892"], "name": "FEV change measurement"} @@ -12209,10 +14944,8 @@ {"id": "EFO_0006309", "parentIds": ["EFO_0004747"], "name": "plasma plasminogen measurement"} {"id": "EFO_0006312", "parentIds": ["EFO_0001444"], "name": "mitochondrial DNA measurement"} {"id": "EFO_0006313", "parentIds": ["EFO_1001904", "EFO_0009688"], "name": "chemotherapy-induced oral mucositis"} -{"id": "EFO_0006314", "parentIds": ["GO_0097327"], "name": "response to high-dose melphalan"} {"id": "EFO_0006315", "parentIds": ["EFO_0000278"], "name": "thiopurine immunosuppressant-induced pancreatitis"} {"id": "EFO_0006316", "parentIds": ["EFO_0003925"], "name": "infant expressive language ability"} -{"id": "EFO_0006317", "parentIds": ["GO_0009410"], "name": "response to thiopurine"} {"id": "EFO_0006318", "parentIds": ["EFO_0000304"], "name": "breast ductal adenocarcinoma"} {"id": "EFO_0006319", "parentIds": ["EFO_0006843"], "name": "HIV viral set point measurement"} {"id": "EFO_0006320", "parentIds": ["EFO_0003765"], "name": "antidepressant-induced side effect"} @@ -12221,26 +14954,20 @@ {"id": "EFO_0006323", "parentIds": ["EFO_0006320"], "name": "antidepressant-induced visual impairment"} {"id": "EFO_0006324", "parentIds": ["EFO_0006320"], "name": "antidepressant-induced hearing impairment"} {"id": "EFO_0006325", "parentIds": ["GO_0036276"], "name": "response to serotonin-norephinephrine reuptake inhibitor"} -{"id": "EFO_0006326", "parentIds": ["EFO_0007870"], "name": "response to bupropion"} {"id": "EFO_0006327", "parentIds": ["EFO_0005658"], "name": "response to sertraline"} -{"id": "EFO_0006328", "parentIds": ["EFO_0006325"], "name": "response to venlafaxine"} -{"id": "EFO_0006329", "parentIds": ["EFO_0005658"], "name": "response to citalopram"} -{"id": "EFO_0006330", "parentIds": ["GO_0036276"], "name": "response to buspirone"} {"id": "EFO_0006331", "parentIds": ["EFO_0001444"], "name": "selenium measurement"} {"id": "EFO_0006332", "parentIds": ["EFO_0004461"], "name": "serum iron measurement"} {"id": "EFO_0006333", "parentIds": ["EFO_0006332"], "name": "transferrin saturation measurement"} {"id": "EFO_0006334", "parentIds": ["EFO_0004461"], "name": "total iron binding capacity"} {"id": "EFO_0006335", "parentIds": ["EFO_0004325"], "name": "systolic blood pressure"} {"id": "EFO_0006336", "parentIds": ["EFO_0004325"], "name": "diastolic blood pressure"} -{"id": "EFO_0006337", "parentIds": ["GO_0009410"], "name": "response to allopurinol"} {"id": "EFO_0006338", "parentIds": ["EFO_0003819"], "name": "pit and fissure surface dental caries"} {"id": "EFO_0006339", "parentIds": ["EFO_0003819"], "name": "smooth surface dental caries"} {"id": "EFO_0006340", "parentIds": ["EFO_0004325"], "name": "mean arterial pressure"} {"id": "EFO_0006341", "parentIds": ["EFO_0004747", "EFO_0004461"], "name": "transferrin measurement"} -{"id": "EFO_0006342", "parentIds": ["EFO_0006343", "EFO_0000508"], "name": "aggressive periodontitis"} +{"id": "EFO_0006342", "parentIds": ["EFO_0006343", "MONDO_0800465"], "name": "aggressive periodontitis"} {"id": "EFO_0006343", "parentIds": ["EFO_0000649"], "name": "chronic periodontitis"} {"id": "EFO_0006344", "parentIds": ["GO_0007610"], "name": "medication adherence behavior"} -{"id": "EFO_0006345", "parentIds": ["GO_0036277"], "name": "response to phenytoin"} {"id": "EFO_0006346", "parentIds": ["EFO_0000701"], "name": "severe cutaneous adverse reaction"} {"id": "EFO_0006347", "parentIds": ["EFO_0003765"], "name": "pulmonary artery enlargement"} {"id": "EFO_0006348", "parentIds": ["EFO_0020865", "EFO_0006841"], "name": "pulmonary artery-aorta diameter ratio measurement"} @@ -12265,7 +14992,7 @@ {"id": "EFO_0006506", "parentIds": ["EFO_0004529"], "name": "hepatic lipid content measurement"} {"id": "EFO_0006507", "parentIds": ["EFO_0001444"], "name": "nicotine glucuronidation measurement"} {"id": "EFO_0006508", "parentIds": ["EFO_0001444"], "name": "cotinine glucuronidation measurement"} -{"id": "EFO_0006509", "parentIds": ["EFO_0007309"], "name": "Varicella Zoster infection"} +{"id": "EFO_0006509", "parentIds": ["MONDO_0100329"], "name": "Varicella Zoster infection"} {"id": "EFO_0006510", "parentIds": ["MONDO_0024294", "MONDO_0100330", "MONDO_0021669", "EFO_1000774", "EFO_0006509"], "name": "Herpes Zoster"} {"id": "EFO_0006511", "parentIds": ["EFO_0005571"], "name": "Kashin-Beck disease"} {"id": "EFO_0006512", "parentIds": ["EFO_0004298"], "name": "angiographic measurement"} @@ -12274,7 +15001,6 @@ {"id": "EFO_0006515", "parentIds": ["EFO_0004747"], "name": "angiotensin-converting enzyme measurement"} {"id": "EFO_0006516", "parentIds": ["EFO_0005420"], "name": "superior frontal gyrus grey matter volume measurement"} {"id": "EFO_0006517", "parentIds": ["EFO_0004873"], "name": "interferon alpha measurement"} -{"id": "EFO_0006518", "parentIds": ["EFO_0005405"], "name": "response to losartan"} {"id": "EFO_0006519", "parentIds": ["HP_0002373"], "name": "MMR-related febrile seizures"} {"id": "EFO_0006520", "parentIds": ["EFO_0005671"], "name": "carbon monoxide exhalation measurement"} {"id": "EFO_0006521", "parentIds": ["EFO_0008111", "EFO_0004838"], "name": "calcium intake measurement"} @@ -12285,10 +15011,10 @@ {"id": "EFO_0006526", "parentIds": ["EFO_0005671"], "name": "pack-years measurement"} {"id": "EFO_0006527", "parentIds": ["EFO_0005671"], "name": "smoking status measurement"} {"id": "EFO_0006544", "parentIds": ["MONDO_0004986", "EFO_0008528"], "name": "bladder transitional cell carcinoma"} -{"id": "EFO_0006545", "parentIds": ["EFO_0000519", "MONDO_0005499"], "name": "brain glioblastoma"} -{"id": "EFO_0006566", "parentIds": ["EFO_0004199"], "name": "dysplastic oral keratinocyte"} +{"id": "EFO_0006545", "parentIds": ["EFO_0000519", "MONDO_0021631", "MONDO_0005499"], "name": "brain glioblastoma"} +{"id": "EFO_0006566", "parentIds": ["EFO_0010282", "EFO_0004199"], "name": "dysplastic oral keratinocyte"} {"id": "EFO_0006718", "parentIds": ["EFO_0000564", "MONDO_0002225"], "name": "ovarian leiomyosarcoma"} -{"id": "EFO_0006719", "parentIds": ["EFO_0005771", "EFO_0000228"], "name": "mesonephric adenocarcinoma"} +{"id": "EFO_0006719", "parentIds": ["EFO_0006460", "EFO_0000228"], "name": "mesonephric adenocarcinoma"} {"id": "EFO_0006732", "parentIds": ["MONDO_0018521", "EFO_1000073"], "name": "pancreatic adenosquamous carcinoma"} {"id": "EFO_0006738", "parentIds": ["EFO_0000200"], "name": "plasmacytoma"} {"id": "EFO_0006740", "parentIds": ["MONDO_0027772", "MONDO_0003036"], "name": "pulmonary mucoepidermoid carcinoma"} @@ -12300,9 +15026,9 @@ {"id": "EFO_0006785", "parentIds": ["EFO_0004339"], "name": "infant body height"} {"id": "EFO_0006788", "parentIds": ["EFO_0000677"], "name": "anxiety disorder"} {"id": "EFO_0006789", "parentIds": ["MONDO_0000827"], "name": "typhoid fever"} -{"id": "EFO_0006790", "parentIds": ["EFO_0003763", "MONDO_0018634", "MONDO_0015547", "MONDO_0020144"], "name": "cerebral amyloid angiopathy"} +{"id": "EFO_0006790", "parentIds": ["EFO_0003763", "MONDO_0018634", "EFO_0000677", "MONDO_0100545"], "name": "cerebral amyloid angiopathy"} {"id": "EFO_0006791", "parentIds": ["EFO_0003763", "MONDO_0043510"], "name": "vascular brain injury"} -{"id": "EFO_0006792", "parentIds": ["MONDO_0001627", "DOID_0050890"], "name": "Lewy body dementia"} +{"id": "EFO_0006792", "parentIds": ["MONDO_0015547", "DOID_0050890"], "name": "Lewy body dementia"} {"id": "EFO_0006793", "parentIds": ["EFO_0008487", "EFO_0006514"], "name": "left inferior lateral ventricle volume measurement"} {"id": "EFO_0006794", "parentIds": ["EFO_0001444"], "name": "cerebrospinal fluid biomarker measurement"} {"id": "EFO_0006795", "parentIds": ["EFO_0005278"], "name": "serum VEGFR2 concentration measurement"} @@ -12324,7 +15050,6 @@ {"id": "EFO_0006811", "parentIds": ["EFO_0005110"], "name": "linolenic acid measurement"} {"id": "EFO_0006812", "parentIds": ["MONDO_0000569", "EFO_0005140", "MONDO_0004126"], "name": "autoimmune thyroid disease"} {"id": "EFO_0006813", "parentIds": ["EFO_0006812"], "name": "atrophic thyroiditis"} -{"id": "EFO_0006816", "parentIds": ["GO_0061476"], "name": "response to heparin"} {"id": "EFO_0006817", "parentIds": ["EFO_0003765"], "name": "yang deficiency"} {"id": "EFO_0006818", "parentIds": ["EFO_0003765"], "name": "stricture"} {"id": "EFO_0006819", "parentIds": ["OGMS_0000063"], "name": "mild disease course"} @@ -12356,7 +15081,7 @@ {"id": "EFO_0006858", "parentIds": ["EFO_0000616"], "name": "epithelial neoplasm"} {"id": "EFO_0006859", "parentIds": ["MONDO_0004992", "EFO_0005950"], "name": "head and neck malignant neoplasia"} {"id": "EFO_0006861", "parentIds": ["EFO_0000305"], "name": "male breast carcinoma"} -{"id": "EFO_0006862", "parentIds": ["MONDO_0018751", "EFO_1000918", "MONDO_0037940"], "name": "Meniere disease"} +{"id": "EFO_0006862", "parentIds": ["MONDO_0100546", "MONDO_0018751", "EFO_1000918", "MONDO_0037940"], "name": "Meniere disease"} {"id": "EFO_0006864", "parentIds": ["EFO_0000719"], "name": "breastfeeding duration"} {"id": "EFO_0006865", "parentIds": ["HP_0000020"], "name": "urgency urinary incontinence"} {"id": "EFO_0006866", "parentIds": ["EFO_0001444"], "name": "electrodermal activity measurement"} @@ -12376,7 +15101,7 @@ {"id": "EFO_0006885", "parentIds": ["HP_0002745"], "name": "leukoplakia of tongue"} {"id": "EFO_0006886", "parentIds": ["HP_0001438"], "name": "pancreaticobiliary malunion"} {"id": "EFO_0006887", "parentIds": ["EFO_0003765"], "name": "radiologic finding"} -{"id": "EFO_0006888", "parentIds": ["HP_0002597", "MONDO_0019063", "MONDO_0024239"], "name": "vascular malformation"} +{"id": "EFO_0006888", "parentIds": ["HP_0002597", "EFO_0004264"], "name": "vascular malformation"} {"id": "EFO_0006889", "parentIds": ["HP_0001871"], "name": "monoclonal B-cell lymphocytosis"} {"id": "EFO_0006890", "parentIds": ["EFO_0000616"], "name": "fibrosis"} {"id": "EFO_0006891", "parentIds": ["EFO_0009483"], "name": "breast adenosis"} @@ -12390,8 +15115,6 @@ {"id": "EFO_0006901", "parentIds": ["EFO_0006900"], "name": "angiopoietin-2 measurement"} {"id": "EFO_0006902", "parentIds": ["EFO_0006900"], "name": "angiopoietin-2 receptor measurement"} {"id": "EFO_0006903", "parentIds": ["EFO_0006900"], "name": "hepatocyte growth factor measurement"} -{"id": "EFO_0006904", "parentIds": ["GO_0061479"], "name": "response to efavirenz"} -{"id": "EFO_0006905", "parentIds": ["GO_0061479"], "name": "response to abacavir"} {"id": "EFO_0006906", "parentIds": ["EFO_0006843"], "name": "virologic response measurement"} {"id": "EFO_0006911", "parentIds": ["HP_0002017"], "name": "Chemotherapy-induced nausea and vomiting"} {"id": "EFO_0006912", "parentIds": ["HP_0002017"], "name": "Radiation-induced nausea and vomiting"} @@ -12430,11 +15153,9 @@ {"id": "EFO_0006947", "parentIds": ["EFO_0006949"], "name": "red wine liking measurement"} {"id": "EFO_0006948", "parentIds": ["EFO_0006949"], "name": "white wine liking measurement"} {"id": "EFO_0006949", "parentIds": ["EFO_0001444"], "name": "wine liking measurement"} -{"id": "EFO_0006950", "parentIds": ["EFO_0005260"], "name": "response to vincristine"} {"id": "EFO_0006951", "parentIds": ["HP_0000364"], "name": "ototoxicity"} {"id": "EFO_0006952", "parentIds": ["EFO_0001444"], "name": "cytotoxicity measurement"} {"id": "EFO_0006953", "parentIds": ["EFO_0006841"], "name": "family history of lung cancer"} -{"id": "EFO_0006954", "parentIds": ["GO_0009410"], "name": "response to triamcinolone acetonide"} {"id": "EFO_0006955", "parentIds": ["EFO_0004747"], "name": "ADAMTS13 activity measurement"} {"id": "EFO_0006956", "parentIds": ["EFO_0004731"], "name": "intraocular pressure change measurement"} {"id": "EFO_0006957", "parentIds": ["EFO_0001444"], "name": "X12063 measurement"} @@ -12445,9 +15166,7 @@ {"id": "EFO_0006993", "parentIds": ["GO_0050896"], "name": "response to mineral dust exposure"} {"id": "EFO_0006994", "parentIds": ["GO_0050896"], "name": "response to gases and fumes exposure"} {"id": "EFO_0006995", "parentIds": ["GO_0050896"], "name": "response to diisocyanate"} -{"id": "EFO_0006996", "parentIds": ["GO_0097327"], "name": "response to homoharringtonine"} {"id": "EFO_0006997", "parentIds": ["GO_0009410"], "name": "response to cold medicine"} -{"id": "EFO_0006998", "parentIds": ["GO_0061479"], "name": "response to stavudine"} {"id": "EFO_0006999", "parentIds": ["EFO_0001444"], "name": "cancer aggressiveness measurement"} {"id": "EFO_0007000", "parentIds": ["EFO_0001444"], "name": "Gleason score measurement"} {"id": "EFO_0007001", "parentIds": ["EFO_0004730", "EFO_0004725", "EFO_0004529"], "name": "dehydroepiandrosterone sulphate measurement"} @@ -12502,13 +15221,13 @@ {"id": "EFO_0007118", "parentIds": ["EFO_0007861"], "name": "sitting height ratio"} {"id": "EFO_0007124", "parentIds": ["HP_0000153"], "name": "salivary gland lesion"} {"id": "EFO_0007125", "parentIds": ["HP_0000478"], "name": "lachrymal gland lesion"} -{"id": "EFO_0007126", "parentIds": ["MONDO_0023865", "MONDO_0021747", "MONDO_0024315", "MONDO_0002428"], "name": "Acanthamoeba keratitis"} +{"id": "EFO_0007126", "parentIds": ["MONDO_0002428", "MONDO_0024315", "MONDO_0021747", "MONDO_0023865"], "name": "Acanthamoeba keratitis"} {"id": "EFO_0007127", "parentIds": ["EFO_0000771"], "name": "actinobacillosis"} {"id": "EFO_0007128", "parentIds": ["EFO_1001122", "MONDO_0000315"], "name": "actinomycosis"} {"id": "EFO_0007129", "parentIds": ["EFO_0003818"], "name": "acute chest syndrome"} -{"id": "EFO_0007130", "parentIds": ["MONDO_0020068", "MONDO_0016428"], "name": "acute disseminated encephalomyelitis"} +{"id": "EFO_0007130", "parentIds": ["MONDO_0002562", "MONDO_0020068"], "name": "acute disseminated encephalomyelitis"} {"id": "EFO_0007131", "parentIds": ["EFO_0008571", "MONDO_0001214"], "name": "acute hemorrhagic conjunctivitis"} -{"id": "EFO_0007132", "parentIds": ["EFO_0007130", "MONDO_0003337"], "name": "acute hemorrhagic leukoencephalitis"} +{"id": "EFO_0007132", "parentIds": ["MONDO_0003337", "EFO_0007130"], "name": "acute hemorrhagic leukoencephalitis"} {"id": "EFO_0007133", "parentIds": ["MONDO_0000624"], "name": "adenomyoma"} {"id": "EFO_0007134", "parentIds": ["EFO_1001331", "EFO_1000356"], "name": "adenosarcoma"} {"id": "EFO_0007135", "parentIds": ["EFO_0005856", "MONDO_0019751"], "name": "adult-onset Still's disease"} @@ -12519,34 +15238,34 @@ {"id": "EFO_0007140", "parentIds": ["MONDO_0000771", "EFO_0007157"], "name": "allergic bronchopulmonary aspergillosis"} {"id": "EFO_0007141", "parentIds": ["EFO_0005751", "MONDO_0002314"], "name": "allergic conjunctivitis"} {"id": "EFO_0007142", "parentIds": ["EFO_0007513"], "name": "Alphavirus infectious disease"} -{"id": "EFO_0007143", "parentIds": ["EFO_1001968"], "name": "alveolar soft part sarcoma"} +{"id": "EFO_0007143", "parentIds": ["EFO_1001968", "EFO_0000508", "EFO_0010282"], "name": "alveolar soft part sarcoma"} {"id": "EFO_0007144", "parentIds": ["MONDO_0002428"], "name": "amebiasis"} -{"id": "EFO_0007145", "parentIds": ["EFO_0007500"], "name": "ancylostomiasis"} +{"id": "EFO_0007145", "parentIds": ["EFO_0007468"], "name": "ancylostomiasis"} {"id": "EFO_0007146", "parentIds": ["MONDO_0024271", "EFO_0007156"], "name": "anisakiasis"} {"id": "EFO_0007147", "parentIds": ["MONDO_0021682", "EFO_0001668"], "name": "anogenital venereal wart"} {"id": "EFO_0007148", "parentIds": ["EFO_0009531", "MONDO_0020674"], "name": "aortic valve insufficiency"} -{"id": "EFO_0007149", "parentIds": ["EFO_1001460", "EFO_0003767", "EFO_0009542", "MONDO_0002031"], "name": "appendicitis"} +{"id": "EFO_0007149", "parentIds": ["EFO_1001463", "MONDO_0001674", "EFO_0003767", "EFO_0009542", "MONDO_0002031"], "name": "appendicitis"} {"id": "EFO_0007150", "parentIds": ["MONDO_0100329"], "name": "Arenaviridae infectious disease"} {"id": "EFO_0007151", "parentIds": ["MONDO_0018087", "EFO_0007150"], "name": "Arenavirus hemorrhagic fever"} {"id": "EFO_0007152", "parentIds": ["EFO_0007396"], "name": "Arterivirus infectious disease"} {"id": "EFO_0007153", "parentIds": ["MONDO_0015926"], "name": "asbestosis"} -{"id": "EFO_0007154", "parentIds": ["EFO_0007156", "EFO_0010282"], "name": "ascariasis"} -{"id": "EFO_0007155", "parentIds": ["EFO_0007156", "EFO_0010282"], "name": "ascaridiasis"} +{"id": "EFO_0007154", "parentIds": ["EFO_0007156", "MONDO_0043424"], "name": "ascariasis"} +{"id": "EFO_0007155", "parentIds": ["EFO_0007156", "MONDO_0043424"], "name": "ascaridiasis"} {"id": "EFO_0007156", "parentIds": ["EFO_0007468"], "name": "Ascaridida infectious disease"} {"id": "EFO_0007157", "parentIds": ["MONDO_0002312"], "name": "aspergillosis"} {"id": "EFO_0007158", "parentIds": ["MONDO_0100329"], "name": "Astroviridae infectious disease"} {"id": "EFO_0007159", "parentIds": ["EFO_0008521"], "name": "atrophic rhinitis"} -{"id": "EFO_0007160", "parentIds": ["MONDO_0043768", "MONDO_0004680", "EFO_0005140", "MONDO_0019098"], "name": "autoimmune thrombocytopenic purpura"} +{"id": "EFO_0007160", "parentIds": ["MONDO_0000009", "MONDO_0021181", "MONDO_0043768", "MONDO_0004680", "EFO_0005140", "MONDO_0019098", "MONDO_0100241"], "name": "autoimmune thrombocytopenic purpura"} {"id": "EFO_0007161", "parentIds": ["EFO_0007419"], "name": "Avulavirus infectious disease"} {"id": "EFO_0007162", "parentIds": ["MONDO_0002428"], "name": "babesiosis"} {"id": "EFO_0007163", "parentIds": ["MONDO_0002428", "EFO_0009561", "EFO_0007209"], "name": "balantidiasis"} -{"id": "EFO_0007164", "parentIds": ["EFO_0004128", "MONDO_0001085"], "name": "Balkan nephropathy"} +{"id": "EFO_0007164", "parentIds": ["MONDO_0001085", "EFO_0004128"], "name": "Balkan nephropathy"} {"id": "EFO_0007165", "parentIds": ["EFO_0000618"], "name": "Barre-Lieou syndrome"} {"id": "EFO_0007166", "parentIds": ["EFO_1001125", "MONDO_0000314"], "name": "bartonellosis"} {"id": "EFO_0007167", "parentIds": ["EFO_1002051", "MONDO_0001835", "EFO_0009489"], "name": "Bell's palsy"} {"id": "EFO_0007168", "parentIds": ["MONDO_0015926"], "name": "berylliosis"} {"id": "EFO_0007169", "parentIds": ["EFO_0003832", "MONDO_0002886", "MONDO_0002866"], "name": "biliary dyskinesia"} -{"id": "EFO_0007170", "parentIds": ["MONDO_0020537"], "name": "bird fancier's lung"} +{"id": "EFO_0007170", "parentIds": ["MONDO_0017853", "MONDO_0022736"], "name": "bird fancier's lung"} {"id": "EFO_0007171", "parentIds": ["MONDO_0000253"], "name": "black piedra"} {"id": "EFO_0007172", "parentIds": ["EFO_0001068"], "name": "blackwater fever"} {"id": "EFO_0007173", "parentIds": ["EFO_0009561", "EFO_0007144"], "name": "Blastocystis hominis infectious disease"} @@ -12562,7 +15281,7 @@ {"id": "EFO_0007183", "parentIds": ["EFO_0004244", "MONDO_0002465"], "name": "bronchiolitis obliterans"} {"id": "EFO_0007184", "parentIds": ["EFO_0003106"], "name": "bronchopneumonia"} {"id": "EFO_0007185", "parentIds": ["MONDO_0000314"], "name": "brucellosis"} -{"id": "EFO_0007186", "parentIds": ["MONDO_0015141", "MONDO_0000341"], "name": "bulbar polio"} +{"id": "EFO_0007186", "parentIds": ["EFO_0005774", "MONDO_0000341"], "name": "bulbar polio"} {"id": "EFO_0007187", "parentIds": ["EFO_0008598"], "name": "bullous pemphigoid"} {"id": "EFO_0007188", "parentIds": ["MONDO_0100329"], "name": "Bunyaviridae infectious disease"} {"id": "EFO_0007189", "parentIds": ["MONDO_0100329"], "name": "Caliciviridae infectious disease"} @@ -12573,10 +15292,10 @@ {"id": "EFO_0007194", "parentIds": ["EFO_0007438"], "name": "Cardiovirus infectious disease"} {"id": "EFO_0007195", "parentIds": ["MONDO_0002052", "EFO_0007166"], "name": "cat-scratch disease"} {"id": "EFO_0007196", "parentIds": ["EFO_0009387"], "name": "Cauda equina syndrome"} -{"id": "EFO_0007197", "parentIds": ["EFO_0009255", "EFO_0002422"], "name": "cecal benign neoplasm"} +{"id": "EFO_0007197", "parentIds": ["MONDO_0021464"], "name": "cecal benign neoplasm"} {"id": "EFO_0007198", "parentIds": ["EFO_0000764", "MONDO_0024318", "MONDO_0003346"], "name": "central nervous system AIDS arteritis"} {"id": "EFO_0007199", "parentIds": ["MONDO_0000368", "EFO_1001456"], "name": "central nervous system tuberculosis"} -{"id": "EFO_0007200", "parentIds": ["EFO_0007517", "EFO_0000540", "EFO_0009386"], "name": "cerebral toxoplasmosis"} +{"id": "EFO_0007200", "parentIds": ["EFO_0007517", "EFO_1001456", "EFO_0000540"], "name": "cerebral toxoplasmosis"} {"id": "EFO_0007201", "parentIds": ["MONDO_0001657"], "name": "cerebral ventricle cancer"} {"id": "EFO_0007202", "parentIds": ["MONDO_0002256"], "name": "cervical incompetence"} {"id": "EFO_0007203", "parentIds": ["EFO_0007128"], "name": "cervicofacial actinomycosis"} @@ -12584,16 +15303,16 @@ {"id": "EFO_0007205", "parentIds": ["MONDO_0000315", "EFO_1000863"], "name": "Chlamydia trachomatis infectious disease"} {"id": "EFO_0007206", "parentIds": ["EFO_0007201", "MONDO_0016717", "MONDO_0043218", "MONDO_0002095"], "name": "choroid plexus cancer"} {"id": "EFO_0007207", "parentIds": ["MONDO_0002040", "MONDO_0000255"], "name": "chromoblastomycosis"} -{"id": "EFO_0007208", "parentIds": ["EFO_0005297", "EFO_0003818", "EFO_0003777", "EFO_0009386"], "name": "Churg-Strauss syndrome"} +{"id": "EFO_0007208", "parentIds": ["EFO_0005297", "MONDO_0003346", "EFO_0003818", "EFO_0003777"], "name": "Churg-Strauss syndrome"} {"id": "EFO_0007209", "parentIds": ["EFO_0005741"], "name": "Ciliophora infectious disease"} -{"id": "EFO_0007210", "parentIds": ["EFO_1001342", "EFO_0001421"], "name": "clonorchiasis"} +{"id": "EFO_0007210", "parentIds": ["EFO_1001342", "MONDO_0043424", "EFO_0001421"], "name": "clonorchiasis"} {"id": "EFO_0007211", "parentIds": ["MONDO_0000308", "EFO_0001067"], "name": "coccidioidomycosis"} -{"id": "EFO_0007212", "parentIds": ["MONDO_0002428", "EFO_0010282"], "name": "coccidiosis"} +{"id": "EFO_0007212", "parentIds": ["MONDO_0002428", "MONDO_0043424"], "name": "coccidiosis"} {"id": "EFO_0007213", "parentIds": ["EFO_0007538", "MONDO_0100120"], "name": "Colorado tick fever"} {"id": "EFO_0007214", "parentIds": ["MONDO_0001040"], "name": "common cold"} {"id": "EFO_0007215", "parentIds": ["EFO_0000574"], "name": "composite lymphoma"} {"id": "EFO_0007216", "parentIds": ["EFO_0007233", "MONDO_0700223"], "name": "congenital diaphragmatic hernia"} -{"id": "EFO_0007217", "parentIds": ["MONDO_0004843", "MONDO_0002320", "EFO_0000508"], "name": "congenital nystagmus"} +{"id": "EFO_0007217", "parentIds": ["MONDO_0100545", "MONDO_0004843", "MONDO_0002320"], "name": "congenital nystagmus"} {"id": "EFO_0007218", "parentIds": ["MONDO_0016511", "EFO_1002026"], "name": "congenital rubella"} {"id": "EFO_0007219", "parentIds": ["EFO_0007504", "MONDO_0016511"], "name": "congenital syphilis"} {"id": "EFO_0007220", "parentIds": ["EFO_0007517", "EFO_1001456", "EFO_0000540", "MONDO_0002320", "MONDO_0016511"], "name": "congenital toxoplasmosis"} @@ -12610,19 +15329,19 @@ {"id": "EFO_0007231", "parentIds": ["EFO_1001433"], "name": "cysticercosis"} {"id": "EFO_0007232", "parentIds": ["EFO_0007212"], "name": "cystoisosporiasis"} {"id": "EFO_0007233", "parentIds": ["EFO_0002970", "MONDO_0020120", "EFO_0000684"], "name": "diaphragm disease"} -{"id": "EFO_0007234", "parentIds": ["EFO_1001342", "EFO_0010282"], "name": "dicrocoeliasis"} +{"id": "EFO_0007234", "parentIds": ["EFO_1001342", "EFO_0009534", "MONDO_0043424"], "name": "dicrocoeliasis"} {"id": "EFO_0007235", "parentIds": ["MONDO_0700204"], "name": "Dictyocaulus infectious disease"} -{"id": "EFO_0007236", "parentIds": ["MONDO_0002185", "MONDO_0018454"], "name": "diffuse idiopathic skeletal hyperostosis"} -{"id": "EFO_0007237", "parentIds": ["EFO_0007468", "MONDO_0016075", "EFO_0000701"], "name": "dipetalonemiasis"} +{"id": "EFO_0007236", "parentIds": ["MONDO_0002185", "EFO_0000508"], "name": "diffuse idiopathic skeletal hyperostosis"} +{"id": "EFO_0007237", "parentIds": ["EFO_0007468", "MONDO_0016075", "MONDO_0024610"], "name": "dipetalonemiasis"} {"id": "EFO_0007238", "parentIds": ["MONDO_0042488"], "name": "diphyllobothriasis"} -{"id": "EFO_0007239", "parentIds": ["EFO_0007468", "EFO_0000701", "MONDO_0016075"], "name": "dirofilariasis"} +{"id": "EFO_0007239", "parentIds": ["EFO_0007468", "MONDO_0016075", "MONDO_0024610"], "name": "dirofilariasis"} {"id": "EFO_0007240", "parentIds": ["MONDO_0024950"], "name": "dourine"} {"id": "EFO_0007241", "parentIds": ["MONDO_0016075", "EFO_0007468"], "name": "dracunculiasis"} {"id": "EFO_0007242", "parentIds": ["EFO_0007538"], "name": "Eastern equine encephalitis"} -{"id": "EFO_0007243", "parentIds": ["EFO_0007273", "MONDO_0018087"], "name": "Ebola hemorrhagic fever"} +{"id": "EFO_0007243", "parentIds": ["MONDO_0018087", "EFO_0007273"], "name": "Ebola hemorrhagic fever"} {"id": "EFO_0007244", "parentIds": ["MONDO_0020289", "EFO_0009531"], "name": "Ebstein anomaly"} {"id": "EFO_0007245", "parentIds": ["MONDO_0042488"], "name": "echinococcosis"} -{"id": "EFO_0007246", "parentIds": ["EFO_0010282", "EFO_1001342"], "name": "echinostomiasis"} +{"id": "EFO_0007246", "parentIds": ["MONDO_0043424", "EFO_1001342"], "name": "echinostomiasis"} {"id": "EFO_0007247", "parentIds": ["EFO_0007255"], "name": "echovirus infectious disease"} {"id": "EFO_0007248", "parentIds": ["EFO_1001890"], "name": "egg allergy"} {"id": "EFO_0007249", "parentIds": ["EFO_1000025", "MONDO_0004789", "EFO_0003832"], "name": "emphysematous cholecystitis"} @@ -12637,20 +15356,20 @@ {"id": "EFO_0007258", "parentIds": ["MONDO_0024913"], "name": "ephemeral fever"} {"id": "EFO_0007259", "parentIds": ["EFO_0000763"], "name": "epidemic pleurodynia"} {"id": "EFO_0007260", "parentIds": ["EFO_0003030", "EFO_1001456", "EFO_1000158"], "name": "epidural abscess"} -{"id": "EFO_0007261", "parentIds": ["MONDO_0020592", "MONDO_0004867"], "name": "epiglottitis"} +{"id": "EFO_0007261", "parentIds": ["MONDO_0020592", "EFO_0010282", "MONDO_0004867"], "name": "epiglottitis"} {"id": "EFO_0007262", "parentIds": ["MONDO_0000415", "MONDO_0100030"], "name": "epilepsy with generalized tonic-clonic seizures"} {"id": "EFO_0007263", "parentIds": ["EFO_0000763", "MONDO_0700053", "MONDO_0700170"], "name": "equine infectious anemia"} {"id": "EFO_0007264", "parentIds": ["MONDO_0023369", "EFO_0007486"], "name": "ethmoid sinusitis"} {"id": "EFO_0007265", "parentIds": ["MONDO_0002040", "EFO_0007510"], "name": "eumycotic mycetoma"} {"id": "EFO_0007266", "parentIds": ["MONDO_0002146", "EFO_0009555"], "name": "eunuchism"} -{"id": "EFO_0007268", "parentIds": ["EFO_1001342", "EFO_0001421"], "name": "fascioloidiasis"} -{"id": "EFO_0007269", "parentIds": ["EFO_0000685", "MONDO_0015822"], "name": "Felty's syndrome"} -{"id": "EFO_0007270", "parentIds": ["EFO_0003820"], "name": "femoral cancer"} +{"id": "EFO_0007268", "parentIds": ["EFO_1001342", "MONDO_0043424", "EFO_0001421"], "name": "fascioloidiasis"} +{"id": "EFO_0007269", "parentIds": ["EFO_0000685"], "name": "Felty's syndrome"} +{"id": "EFO_0007270", "parentIds": ["MONDO_0021579", "MONDO_0000952"], "name": "femoral cancer"} {"id": "EFO_0007271", "parentIds": ["MONDO_0021043"], "name": "fibroepithelial neoplasm"} -{"id": "EFO_0007272", "parentIds": ["EFO_0000701", "MONDO_0016075", "MONDO_0001812", "EFO_0004711", "MONDO_0100120"], "name": "filarial elephantiasis"} +{"id": "EFO_0007272", "parentIds": ["MONDO_0024610", "MONDO_0016075", "MONDO_0001812", "EFO_0004711", "MONDO_0100120"], "name": "filarial elephantiasis"} {"id": "EFO_0007273", "parentIds": ["EFO_0007376"], "name": "Filoviridae infectious disease"} {"id": "EFO_0007274", "parentIds": ["MONDO_0100329"], "name": "Flaviviridae infectious disease"} -{"id": "EFO_0007275", "parentIds": ["EFO_0000536", "EFO_0000763", "EFO_0000508"], "name": "focal epithelial hyperplasia"} +{"id": "EFO_0007275", "parentIds": ["EFO_0000536", "EFO_0000763", "EFO_0000508", "MONDO_0043424"], "name": "focal epithelial hyperplasia"} {"id": "EFO_0007276", "parentIds": ["MONDO_0004380", "MONDO_0020082", "MONDO_0017345"], "name": "follicular dendritic cell sarcoma"} {"id": "EFO_0007277", "parentIds": ["MONDO_0024913", "MONDO_0024990", "MONDO_0700053"], "name": "foot and mouth disease"} {"id": "EFO_0007278", "parentIds": ["EFO_0003818", "MONDO_0024355", "MONDO_0002041"], "name": "fungal lung infectious disease"} @@ -12673,32 +15392,32 @@ {"id": "EFO_0007296", "parentIds": ["MONDO_0100120", "EFO_0003818", "MONDO_0018087", "MONDO_0024352", "EFO_0007295"], "name": "hantavirus pulmonary syndrome"} {"id": "EFO_0007297", "parentIds": ["MONDO_0001641"], "name": "HELLP syndrome"} {"id": "EFO_0007298", "parentIds": ["MONDO_0001370"], "name": "hemopericardium"} -{"id": "EFO_0007299", "parentIds": ["MONDO_0018087", "EFO_0003086"], "name": "hemorrhagic fever with renal syndrome"} +{"id": "EFO_0007299", "parentIds": ["EFO_0003103", "MONDO_0018087", "EFO_0003086"], "name": "hemorrhagic fever with renal syndrome"} {"id": "EFO_0007300", "parentIds": ["EFO_0007419"], "name": "Henipavirus infectious disease"} {"id": "EFO_0007301", "parentIds": ["MONDO_0100329"], "name": "Hepadnaviridae infectious disease"} {"id": "EFO_0007302", "parentIds": ["MONDO_0000369", "EFO_0001421", "EFO_0007280", "EFO_1000917"], "name": "hepatic tuberculosis"} {"id": "EFO_0007303", "parentIds": ["EFO_0004196"], "name": "hepatitis E virus infection"} {"id": "EFO_0007304", "parentIds": ["EFO_0004196", "MONDO_0021669"], "name": "hepatitis D virus infection"} {"id": "EFO_0007305", "parentIds": ["EFO_0004196"], "name": "hepatitis A virus infection"} -{"id": "EFO_0007306", "parentIds": ["EFO_0000763"], "name": "herpangina"} -{"id": "EFO_0007307", "parentIds": ["EFO_0009688", "EFO_1002022"], "name": "Herpes simplex virus gingivostomatitis"} +{"id": "EFO_0007306", "parentIds": ["MONDO_0043424", "EFO_0000763"], "name": "herpangina"} +{"id": "EFO_0007307", "parentIds": ["MONDO_0043424", "EFO_0009688", "EFO_1002022"], "name": "Herpes simplex virus gingivostomatitis"} {"id": "EFO_0007308", "parentIds": ["MONDO_0020950", "MONDO_0023865", "EFO_1002022"], "name": "Herpes simplex virus keratitis"} {"id": "EFO_0007309", "parentIds": ["MONDO_0100329"], "name": "Herpesviridae infectious disease"} {"id": "EFO_0007310", "parentIds": ["MONDO_0000308"], "name": "histoplasmosis"} {"id": "EFO_0007311", "parentIds": ["EFO_0009528"], "name": "HIV enteropathy"} {"id": "EFO_0007312", "parentIds": ["EFO_0009528", "EFO_0000764"], "name": "HIV wasting syndrome"} -{"id": "EFO_0007313", "parentIds": ["EFO_0009528", "MONDO_0005363"], "name": "HIV-associated nephropathy"} +{"id": "EFO_0007313", "parentIds": ["EFO_0009528", "EFO_0003103", "MONDO_0005363"], "name": "HIV-associated nephropathy"} {"id": "EFO_0007314", "parentIds": ["EFO_0005741"], "name": "hookworm infectious disease"} {"id": "EFO_0007315", "parentIds": ["MONDO_0043885", "EFO_0009536", "EFO_0005681", "MONDO_0024295"], "name": "hordeolum"} {"id": "EFO_0007316", "parentIds": ["EFO_0000763"], "name": "Human T-lymphotropic virus 1 infectious disease"} -{"id": "EFO_0007317", "parentIds": ["EFO_0010282", "EFO_1001342"], "name": "hymenolepiasis"} -{"id": "EFO_0007318", "parentIds": ["MONDO_0019214", "EFO_0001379", "Orphanet_79161"], "name": "hyperinsulinemic hypoglycemia"} +{"id": "EFO_0007317", "parentIds": ["EFO_1001342", "MONDO_0043424"], "name": "hymenolepiasis"} +{"id": "EFO_0007318", "parentIds": ["EFO_0001379", "MONDO_0019214", "Orphanet_79161"], "name": "hyperinsulinemic hypoglycemia"} {"id": "EFO_0007319", "parentIds": ["EFO_0000589", "EFO_1000973", "EFO_0010283"], "name": "hyperprolactinemia"} {"id": "EFO_0007320", "parentIds": ["EFO_0007389"], "name": "hypodermyiasis"} {"id": "EFO_0007321", "parentIds": ["EFO_0005577", "MONDO_0021358"], "name": "hypopharynx cancer"} {"id": "EFO_0007322", "parentIds": ["MONDO_0003780", "MONDO_0003783"], "name": "idiopathic CD4-positive T-lymphocytopenia"} {"id": "EFO_0007323", "parentIds": ["EFO_0000783"], "name": "inclusion body myositis"} -{"id": "EFO_0007324", "parentIds": ["EFO_0007205", "EFO_1000829"], "name": "inclusion conjunctivitis"} +{"id": "EFO_0007324", "parentIds": ["EFO_1000829", "EFO_0007205"], "name": "inclusion conjunctivitis"} {"id": "EFO_0007325", "parentIds": ["MONDO_0700053"], "name": "infectious ectromelia"} {"id": "EFO_0007326", "parentIds": ["EFO_0000769"], "name": "infectious mononucleosis"} {"id": "EFO_0007327", "parentIds": ["MONDO_0700053"], "name": "infectious myxomatosis"} @@ -12728,8 +15447,8 @@ {"id": "EFO_0007353", "parentIds": ["EFO_0007352", "EFO_0007205", "EFO_0007291"], "name": "lymphogranuloma venereum"} {"id": "EFO_0007355", "parentIds": ["MONDO_0024582", "MONDO_0002149"], "name": "male reproductive organ cancer"} {"id": "EFO_0007356", "parentIds": ["EFO_0007333"], "name": "mandibular cancer"} -{"id": "EFO_0007357", "parentIds": ["MONDO_0016075", "EFO_0000701"], "name": "mansonelliasis"} -{"id": "EFO_0007358", "parentIds": ["MONDO_0018087"], "name": "Marburg hemorrhagic fever"} +{"id": "EFO_0007357", "parentIds": ["MONDO_0024610", "MONDO_0016075"], "name": "mansonelliasis"} +{"id": "EFO_0007358", "parentIds": ["EFO_0007273", "MONDO_0018087"], "name": "Marburg hemorrhagic fever"} {"id": "EFO_0007359", "parentIds": ["EFO_0000565", "MONDO_0016586"], "name": "mast-cell leukemia"} {"id": "EFO_0007360", "parentIds": ["MONDO_0021580"], "name": "maxillary neoplasm"} {"id": "EFO_0007361", "parentIds": ["MONDO_0023369", "EFO_0007486", "EFO_1001047"], "name": "maxillary sinusitis"} @@ -12742,10 +15461,10 @@ {"id": "EFO_0007368", "parentIds": ["MONDO_0000368"], "name": "miliary tuberculosis"} {"id": "EFO_0007369", "parentIds": ["EFO_1001890"], "name": "milk allergic reaction"} {"id": "EFO_0007370", "parentIds": ["EFO_0000763"], "name": "milker's nodule"} -{"id": "EFO_0007371", "parentIds": ["EFO_0020092", "MONDO_0002427", "MONDO_0016494"], "name": "Miller Fisher syndrome"} +{"id": "EFO_0007371", "parentIds": ["EFO_0020092", "MONDO_0002427", "EFO_0007292"], "name": "Miller Fisher syndrome"} {"id": "EFO_0007372", "parentIds": ["EFO_0009557"], "name": "mitral valve stenosis"} {"id": "EFO_0007373", "parentIds": ["EFO_0000313"], "name": "mixed cell type cancer"} -{"id": "EFO_0007374", "parentIds": ["EFO_0005755", "MONDO_0016663"], "name": "mixed connective tissue disease"} +{"id": "EFO_0007374", "parentIds": ["EFO_0005755", "MONDO_0016663", "MONDO_0000589"], "name": "mixed connective tissue disease"} {"id": "EFO_0007375", "parentIds": ["EFO_0000763"], "name": "molluscum contagiosum"} {"id": "EFO_0007376", "parentIds": ["MONDO_0100329"], "name": "Mononegavirales infectious disease"} {"id": "EFO_0007377", "parentIds": ["EFO_0007419"], "name": "Morbillivirus infectious disease"} @@ -12761,26 +15480,26 @@ {"id": "EFO_0007387", "parentIds": ["EFO_1001272"], "name": "Mycoplasma pneumoniae pneumonia"} {"id": "EFO_0007388", "parentIds": ["MONDO_0012197"], "name": "myelophthisic anemia"} {"id": "EFO_0007389", "parentIds": ["MONDO_0002875"], "name": "myiasis"} -{"id": "EFO_0007390", "parentIds": ["EFO_0010282", "EFO_1001342"], "name": "necatoriasis"} +{"id": "EFO_0007390", "parentIds": ["EFO_1001342", "MONDO_0043424"], "name": "necatoriasis"} {"id": "EFO_0007391", "parentIds": ["EFO_1001342"], "name": "Nematoda infectious disease"} {"id": "EFO_0007392", "parentIds": ["MONDO_0004992", "MONDO_0021248"], "name": "nervous system cancer"} -{"id": "EFO_0007393", "parentIds": ["EFO_0009386", "EFO_0007157"], "name": "neuroaspergillosis"} +{"id": "EFO_0007393", "parentIds": ["EFO_0007157", "EFO_1001456"], "name": "neuroaspergillosis"} {"id": "EFO_0007394", "parentIds": ["EFO_1001456", "EFO_1001475"], "name": "neuroschistosomiasis"} {"id": "EFO_0007395", "parentIds": ["EFO_0000763"], "name": "Newcastle disease"} {"id": "EFO_0007396", "parentIds": ["MONDO_0100329"], "name": "Nidovirales infectious disease"} {"id": "EFO_0007397", "parentIds": ["MONDO_0000316"], "name": "nocardiosis"} {"id": "EFO_0007398", "parentIds": ["EFO_0007402", "MONDO_0020947"], "name": "ocular onchocerciasis"} {"id": "EFO_0007399", "parentIds": ["EFO_0007517", "MONDO_0020947"], "name": "ocular toxoplasmosis"} -{"id": "EFO_0007400", "parentIds": ["EFO_0010282", "EFO_0007500"], "name": "oesophagostomiasis"} +{"id": "EFO_0007400", "parentIds": ["EFO_0007468", "MONDO_0043424"], "name": "oesophagostomiasis"} {"id": "EFO_0007401", "parentIds": ["EFO_0007441"], "name": "oligohydramnios"} -{"id": "EFO_0007402", "parentIds": ["EFO_0000701", "MONDO_0016075", "MONDO_0100120", "EFO_0007468"], "name": "onchocerciasis"} +{"id": "EFO_0007402", "parentIds": ["MONDO_0016075", "MONDO_0100120", "MONDO_0024610", "EFO_0007468"], "name": "onchocerciasis"} {"id": "EFO_0007403", "parentIds": ["EFO_0009569", "MONDO_0020010", "EFO_0006510"], "name": "ophthalmic herpes zoster"} {"id": "EFO_0007404", "parentIds": ["EFO_1001342"], "name": "opisthorchiasis"} {"id": "EFO_0007405", "parentIds": ["MONDO_0002135", "EFO_0003966", "EFO_0001423"], "name": "optic neuritis"} -{"id": "EFO_0007406", "parentIds": ["MONDO_0002026", "EFO_1001047"], "name": "oral candidiasis"} +{"id": "EFO_0007406", "parentIds": ["MONDO_0043424", "MONDO_0002026", "EFO_1001047"], "name": "oral candidiasis"} {"id": "EFO_0007407", "parentIds": ["EFO_0007280", "EFO_1001047"], "name": "oral tuberculosis"} {"id": "EFO_0007408", "parentIds": ["MONDO_0002132", "MONDO_0024611"], "name": "orbital cancer"} -{"id": "EFO_0007409", "parentIds": ["Orphanet_79167", "Orphanet_182076", "MONDO_0800153", "EFO_0007531"], "name": "Ornithine transcarbamylase deficiency"} +{"id": "EFO_0007409", "parentIds": ["EFO_0003833", "Orphanet_79167", "Orphanet_182076", "MONDO_0800153", "EFO_0007199", "EFO_0007531"], "name": "Ornithine transcarbamylase deficiency"} {"id": "EFO_0007410", "parentIds": ["MONDO_0000314"], "name": "ornithosis"} {"id": "EFO_0007411", "parentIds": ["EFO_0000763"], "name": "Orthomyxoviridae infectious disease"} {"id": "EFO_0007412", "parentIds": ["EFO_0003820"], "name": "ossifying fibroma"} @@ -12791,7 +15510,7 @@ {"id": "EFO_0007417", "parentIds": ["MONDO_0000308"], "name": "paracoccidioidomycosis"} {"id": "EFO_0007418", "parentIds": ["EFO_1001342"], "name": "paragonimiasis"} {"id": "EFO_0007419", "parentIds": ["EFO_0007376"], "name": "Paramyxoviridae infectious disease"} -{"id": "EFO_0007420", "parentIds": ["EFO_0010282", "MONDO_0000827"], "name": "paratyphoid fever"} +{"id": "EFO_0007420", "parentIds": ["MONDO_0043424", "MONDO_0000827"], "name": "paratyphoid fever"} {"id": "EFO_0007421", "parentIds": ["EFO_0000701", "MONDO_0002884"], "name": "paronychia"} {"id": "EFO_0007422", "parentIds": ["EFO_0008581"], "name": "parotid disease"} {"id": "EFO_0007423", "parentIds": ["EFO_0007422"], "name": "parotitis"} @@ -12800,7 +15519,7 @@ {"id": "EFO_0007426", "parentIds": ["EFO_0007427", "MONDO_0000368"], "name": "pericardial tuberculosis"} {"id": "EFO_0007427", "parentIds": ["MONDO_0000474"], "name": "pericarditis"} {"id": "EFO_0007428", "parentIds": ["MONDO_0003406", "EFO_0004280"], "name": "periodic limb movement disorder"} -{"id": "EFO_0007429", "parentIds": ["MONDO_0044986", "MONDO_0020592", "EFO_0000771", "EFO_0003030"], "name": "peritonsillar abscess"} +{"id": "EFO_0007429", "parentIds": ["MONDO_0044986", "MONDO_0020592", "MONDO_0043424", "EFO_0000771", "EFO_0003030"], "name": "peritonsillar abscess"} {"id": "EFO_0007430", "parentIds": ["EFO_0000546", "EFO_0008546"], "name": "persian gulf syndrome"} {"id": "EFO_0007431", "parentIds": ["EFO_0000763"], "name": "peste des petits ruminants infectious disease"} {"id": "EFO_0007432", "parentIds": ["EFO_0007274"], "name": "Pestivirus infectious disease"} @@ -12825,26 +15544,26 @@ {"id": "EFO_0007452", "parentIds": ["MONDO_0000945"], "name": "post-thrombotic syndrome"} {"id": "EFO_0007453", "parentIds": ["EFO_0003761", "EFO_0009683", "MONDO_0002050"], "name": "postpartum depression"} {"id": "EFO_0007454", "parentIds": ["EFO_0007450"], "name": "postpoliomyelitis syndrome"} -{"id": "EFO_0007455", "parentIds": ["EFO_0000763", "MONDO_0020067"], "name": "progressive multifocal leukoencephalopathy"} +{"id": "EFO_0007455", "parentIds": ["MONDO_0020067", "EFO_0000763"], "name": "progressive multifocal leukoencephalopathy"} {"id": "EFO_0007456", "parentIds": ["EFO_0003880"], "name": "pseudomyxoma peritonei"} -{"id": "EFO_0007457", "parentIds": ["EFO_0009387", "EFO_0000763"], "name": "pseudorabies"} +{"id": "EFO_0007457", "parentIds": ["MONDO_0020010", "EFO_0009387", "EFO_0000763"], "name": "pseudorabies"} {"id": "EFO_0007458", "parentIds": ["EFO_0005785", "EFO_1000336"], "name": "pulmonary blastoma"} {"id": "EFO_0007459", "parentIds": ["Orphanet_79161"], "name": "pyruvate decarboxylase deficiency"} {"id": "EFO_0007460", "parentIds": ["EFO_0005856", "EFO_0005140", "EFO_0005755"], "name": "reactive arthritis"} {"id": "EFO_0007461", "parentIds": ["EFO_0009429", "EFO_0003106"], "name": "recurrent pneumonia"} {"id": "EFO_0007462", "parentIds": ["MONDO_0003406"], "name": "REM sleep behavior disorder"} -{"id": "EFO_0007463", "parentIds": ["EFO_0003086", "MONDO_0005247", "EFO_0007531", "MONDO_0000369"], "name": "renal tuberculosis"} +{"id": "EFO_0007463", "parentIds": ["EFO_0003086", "EFO_0003865", "EFO_0007531", "MONDO_0000369"], "name": "renal tuberculosis"} {"id": "EFO_0007464", "parentIds": ["EFO_0000763"], "name": "Reoviridae infectious disease"} {"id": "EFO_0007465", "parentIds": ["EFO_0007419"], "name": "Respirovirus infectious disease"} {"id": "EFO_0007466", "parentIds": ["MONDO_0004992", "MONDO_0024645"], "name": "retroperitoneal cancer"} -{"id": "EFO_0007467", "parentIds": ["EFO_0005755", "EFO_0005774"], "name": "Reye syndrome"} +{"id": "EFO_0007467", "parentIds": ["EFO_0005774", "EFO_0005755"], "name": "Reye syndrome"} {"id": "EFO_0007468", "parentIds": ["EFO_0007391"], "name": "Rhabditida infectious disease"} {"id": "EFO_0007469", "parentIds": ["EFO_0007376"], "name": "Rhabdoviridae infectious disease"} {"id": "EFO_0007470", "parentIds": ["MONDO_0000314", "EFO_0000684", "MONDO_0030603"], "name": "rhinoscleroma"} {"id": "EFO_0007471", "parentIds": ["MONDO_0000307"], "name": "rhinosporidiosis"} {"id": "EFO_0007472", "parentIds": ["EFO_1001128", "MONDO_0041850"], "name": "rickettsial pneumonia"} {"id": "EFO_0007473", "parentIds": ["EFO_0005681", "MONDO_0024295", "MONDO_0000315", "MONDO_0017592"], "name": "Ritter's disease"} -{"id": "EFO_0007474", "parentIds": ["EFO_0007309"], "name": "Roseolovirus infectious disease"} +{"id": "EFO_0007474", "parentIds": ["MONDO_0100329"], "name": "Roseolovirus infectious disease"} {"id": "EFO_0007475", "parentIds": ["EFO_1001463", "MONDO_0000827", "MONDO_0043424"], "name": "Salmonella gastroenteritis"} {"id": "EFO_0007476", "parentIds": ["EFO_0007212"], "name": "sarcocystosis"} {"id": "EFO_0007477", "parentIds": ["EFO_0000684", "EFO_1001476"], "name": "scarlet fever"} @@ -12852,7 +15571,7 @@ {"id": "EFO_0007479", "parentIds": ["EFO_0007389"], "name": "screw worm infectious disease"} {"id": "EFO_0007480", "parentIds": ["MONDO_0600003", "EFO_0009117"], "name": "scrub typhus"} {"id": "EFO_0007481", "parentIds": ["EFO_0010283", "EFO_0009425"], "name": "septicemic plague"} -{"id": "EFO_0007482", "parentIds": ["EFO_0007468", "EFO_0000701", "MONDO_0016075"], "name": "setariasis"} +{"id": "EFO_0007482", "parentIds": ["MONDO_0024610", "EFO_0007468", "MONDO_0016075"], "name": "setariasis"} {"id": "EFO_0007484", "parentIds": ["MONDO_0017853"], "name": "sick building syndrome"} {"id": "EFO_0007485", "parentIds": ["MONDO_0015926"], "name": "silicosis"} {"id": "EFO_0007486", "parentIds": ["EFO_0009481"], "name": "sinusitis"} @@ -12864,19 +15583,19 @@ {"id": "EFO_0007492", "parentIds": ["EFO_0009002", "MONDO_0000369"], "name": "splenic tuberculosis"} {"id": "EFO_0007493", "parentIds": ["EFO_0000508", "MONDO_0000836"], "name": "spondylolisthesis"} {"id": "EFO_0007494", "parentIds": ["MONDO_0002041"], "name": "sporotrichosis"} -{"id": "EFO_0007495", "parentIds": ["MONDO_0020601", "EFO_0007274"], "name": "St. Louis encephalitis"} +{"id": "EFO_0007495", "parentIds": ["EFO_0007274", "MONDO_0020601"], "name": "St. Louis encephalitis"} {"id": "EFO_0007496", "parentIds": ["EFO_1001272", "EFO_1001849"], "name": "staphylococcal pneumonia"} -{"id": "EFO_0007497", "parentIds": ["EFO_1001849", "MONDO_0000314", "EFO_0010282"], "name": "staphyloenterotoxemia"} +{"id": "EFO_0007497", "parentIds": ["MONDO_0043424", "EFO_1001849", "MONDO_0000314"], "name": "staphyloenterotoxemia"} {"id": "EFO_0007498", "parentIds": ["EFO_0004280", "EFO_0000618"], "name": "Stiff-Person syndrome"} {"id": "EFO_0007499", "parentIds": ["EFO_1001272", "EFO_0000772"], "name": "streptococcal pneumonia"} -{"id": "EFO_0007500", "parentIds": ["EFO_0007391"], "name": "Strongylida infectious disease"} -{"id": "EFO_0007501", "parentIds": ["EFO_0007500", "EFO_0007468"], "name": "strongyloidiasis"} -{"id": "EFO_0007502", "parentIds": ["MONDO_0020069", "EFO_0007538"], "name": "subacute sclerosing panencephalitis"} +{"id": "EFO_0007500", "parentIds": ["EFO_0001067"], "name": "Strongylida infectious disease"} +{"id": "EFO_0007501", "parentIds": ["EFO_0007468"], "name": "strongyloidiasis"} +{"id": "EFO_0007502", "parentIds": ["EFO_0007538"], "name": "subacute sclerosing panencephalitis"} {"id": "EFO_0007503", "parentIds": ["EFO_0004992"], "name": "suppurative otitis media"} {"id": "EFO_0007504", "parentIds": ["MONDO_0000314", "EFO_1001217"], "name": "syphilis"} {"id": "EFO_0007505", "parentIds": ["MONDO_0004944", "MONDO_0020010"], "name": "tabes dorsalis"} {"id": "EFO_0007506", "parentIds": ["MONDO_0002428"], "name": "theileriasis"} -{"id": "EFO_0007507", "parentIds": ["EFO_0004264", "EFO_0000618"], "name": "thoracic outlet syndrome"} +{"id": "EFO_0007507", "parentIds": ["MONDO_0043218", "EFO_0004264"], "name": "thoracic outlet syndrome"} {"id": "EFO_0007508", "parentIds": ["MONDO_0002875"], "name": "tick infestation"} {"id": "EFO_0007509", "parentIds": ["EFO_0007508", "MONDO_0020010"], "name": "tick paralysis"} {"id": "EFO_0007510", "parentIds": ["MONDO_0000254", "MONDO_0021201"], "name": "tinea"} @@ -12891,16 +15610,16 @@ {"id": "EFO_0007519", "parentIds": ["EFO_0007166", "MONDO_0100120"], "name": "trench fever"} {"id": "EFO_0007520", "parentIds": ["EFO_0001067"], "name": "trichinosis"} {"id": "EFO_0007521", "parentIds": ["EFO_0003103", "MONDO_0021681", "DOID_1947", "EFO_0009549"], "name": "Trichomonas vaginitis"} -{"id": "EFO_0007522", "parentIds": ["EFO_0007500"], "name": "trichostrongyloidiasis"} -{"id": "EFO_0007523", "parentIds": ["EFO_0007522"], "name": "trichostrongylosis"} -{"id": "EFO_0007524", "parentIds": ["EFO_0010282", "EFO_0007253"], "name": "trichuriasis"} +{"id": "EFO_0007522", "parentIds": ["EFO_1001342"], "name": "trichostrongyloidiasis"} +{"id": "EFO_0007523", "parentIds": ["EFO_0007522", "EFO_0007468"], "name": "trichostrongylosis"} +{"id": "EFO_0007524", "parentIds": ["EFO_0007253", "MONDO_0043424"], "name": "trichuriasis"} {"id": "EFO_0007525", "parentIds": ["EFO_0009568", "EFO_0009531", "EFO_0005775"], "name": "tricuspid valve stenosis"} {"id": "EFO_0007526", "parentIds": ["MONDO_0004389"], "name": "trombiculiasis"} -{"id": "EFO_0007527", "parentIds": ["EFO_0007316", "EFO_0009488", "MONDO_0020010"], "name": "tropical spastic paraparesis"} +{"id": "EFO_0007527", "parentIds": ["EFO_0007316", "EFO_0009488", "EFO_1001456", "MONDO_0020010"], "name": "tropical spastic paraparesis"} {"id": "EFO_0007528", "parentIds": ["EFO_0009680", "EFO_0003097", "EFO_0007446"], "name": "tuberculous empyema"} {"id": "EFO_0007529", "parentIds": ["EFO_0007280", "MONDO_0000369", "EFO_0008588"], "name": "tuberculous peritonitis"} {"id": "EFO_0007530", "parentIds": ["EFO_1001475", "EFO_0003103", "EFO_1000018"], "name": "urinary schistosomiasis"} -{"id": "EFO_0007531", "parentIds": ["MONDO_0000368", "EFO_0003863"], "name": "urogenital tuberculosis"} +{"id": "EFO_0007531", "parentIds": ["MONDO_0000368", "EFO_0003863", "MONDO_0005247"], "name": "urogenital tuberculosis"} {"id": "EFO_0007532", "parentIds": ["MONDO_0021254", "MONDO_0002715"], "name": "uterine corpus cancer"} {"id": "EFO_0007533", "parentIds": ["EFO_0005854"], "name": "vasomotor rhinitis"} {"id": "EFO_0007534", "parentIds": ["MONDO_0018087", "MONDO_0024318", "EFO_0007142", "MONDO_0100120", "EFO_0001423"], "name": "Venezuelan equine encephalitis"} @@ -12933,10 +15652,8 @@ {"id": "EFO_0007585", "parentIds": ["GO_0007610"], "name": "Cannabis use"} {"id": "EFO_0007586", "parentIds": ["GO_0007610"], "name": "Cannabis use initiation"} {"id": "EFO_0007591", "parentIds": ["EFO_0004512"], "name": "bone mineral accretion measurement"} -{"id": "EFO_0007592", "parentIds": ["GO_0097327"], "name": "response to bleomycin"} {"id": "EFO_0007593", "parentIds": ["EFO_0004554"], "name": "chromatid break measurement"} {"id": "EFO_0007602", "parentIds": ["EFO_0001444"], "name": "total ventricular volume measurement"} -{"id": "EFO_0007612", "parentIds": ["GO_0009410"], "name": "response to montelukast"} {"id": "EFO_0007613", "parentIds": ["GO_0009410"], "name": "response to endocrine therapy"} {"id": "EFO_0007614", "parentIds": ["EFO_0010049"], "name": "asthma exacerbation measurement"} {"id": "EFO_0007615", "parentIds": ["EFO_0005036"], "name": "thrombus formation measurement"} @@ -12964,7 +15681,6 @@ {"id": "EFO_0007639", "parentIds": ["EFO_0001444"], "name": "minimal erythema dose"} {"id": "EFO_0007645", "parentIds": ["EFO_0007878"], "name": "longitudinal alcohol consumption measurement"} {"id": "EFO_0007646", "parentIds": ["EFO_0006514", "EFO_0004464"], "name": "amyloid plaque accumulation rate"} -{"id": "EFO_0007647", "parentIds": ["GO_0046677"], "name": "response to vancomycin"} {"id": "EFO_0007648", "parentIds": ["EFO_0001444"], "name": "vancomycin trough measurement"} {"id": "EFO_0007649", "parentIds": ["EFO_0004742"], "name": "renal elimination rate measurement"} {"id": "EFO_0007650", "parentIds": ["EFO_0004873"], "name": "soluble interleukin-2 receptor subunit alpha measurement"} @@ -12975,8 +15691,6 @@ {"id": "EFO_0007658", "parentIds": ["EFO_0001444"], "name": "carrier status"} {"id": "EFO_0007659", "parentIds": ["EFO_0007658"], "name": "APOE carrier status"} {"id": "EFO_0007660", "parentIds": ["EFO_0007911", "EFO_0006848"], "name": "neuroticism measurement"} -{"id": "EFO_0007661", "parentIds": ["GO_0036277"], "name": "response to lamotrigine"} -{"id": "EFO_0007662", "parentIds": ["GO_0009410"], "name": "response to triptolide"} {"id": "EFO_0007663", "parentIds": ["EFO_0007826", "EFO_0006848"], "name": "childhood aggressive behaviour measurement"} {"id": "EFO_0007664", "parentIds": ["EFO_0000651"], "name": "outer ear morphology trait"} {"id": "EFO_0007665", "parentIds": ["EFO_0007664"], "name": "ear protrusion"} @@ -12990,7 +15704,6 @@ {"id": "EFO_0007673", "parentIds": ["EFO_0007664"], "name": "superior crus of antihelix expression"} {"id": "EFO_0007674", "parentIds": ["EFO_0007664"], "name": "Darwin's tubercule"} {"id": "EFO_0007675", "parentIds": ["EFO_0001444"], "name": "metastasis measurement"} -{"id": "EFO_0007676", "parentIds": ["GO_0009410"], "name": "response to zileuton"} {"id": "EFO_0007677", "parentIds": ["EFO_0004732"], "name": "LDL peak particle diameter measurement"} {"id": "EFO_0007678", "parentIds": ["EFO_0008111"], "name": "total fat intake measurement"} {"id": "EFO_0007679", "parentIds": ["EFO_0006848"], "name": "oppositional defiant disorder measurement"} @@ -13061,7 +15774,6 @@ {"id": "EFO_0007776", "parentIds": ["EFO_0001444"], "name": "prothrombin fragments F1+2 measurement"} {"id": "EFO_0007777", "parentIds": ["EFO_0005115"], "name": "base metabolic rate measurement"} {"id": "EFO_0007778", "parentIds": ["EFO_0005116"], "name": "urinary albumin to creatinine ratio"} -{"id": "EFO_0007779", "parentIds": ["GO_0097327"], "name": "response to pazopanib"} {"id": "EFO_0007780", "parentIds": ["EFO_0001444"], "name": "periodontal measurement"} {"id": "EFO_0007781", "parentIds": ["EFO_0006848"], "name": "stressful life event measurement"} {"id": "EFO_0007783", "parentIds": ["EFO_0004554"], "name": "mosaic loss of chromosome Y measurement"} @@ -13089,15 +15801,12 @@ {"id": "EFO_0007805", "parentIds": ["EFO_0004612"], "name": "HDL cholesterol change measurement"} {"id": "EFO_0007806", "parentIds": ["EFO_0004574"], "name": "total cholesterol change measurement"} {"id": "EFO_0007807", "parentIds": ["EFO_0001444"], "name": "erythrocyte cadmium measurement"} -{"id": "EFO_0007808", "parentIds": ["GO_0097327"], "name": "response to bortezomib"} {"id": "EFO_0007809", "parentIds": ["GO_0009410"], "name": "response to flupirtine"} {"id": "EFO_0007810", "parentIds": ["EFO_0007812"], "name": "Plasmodium falciparum antigen IgG1 measurement"} {"id": "EFO_0007811", "parentIds": ["EFO_0007812"], "name": "Plasmodium falciparum antigen IgG3 measurement"} {"id": "EFO_0007812", "parentIds": ["EFO_0004565"], "name": "Plasmodium falciparum antigen IgG measurement"} {"id": "EFO_0007813", "parentIds": ["EFO_0001444"], "name": "cotinine measurement"} {"id": "EFO_0007814", "parentIds": ["EFO_0004731"], "name": "refractive error measurement"} -{"id": "EFO_0007815", "parentIds": ["GO_0097327"], "name": "response to dabrafenib"} -{"id": "EFO_0007816", "parentIds": ["GO_0097327"], "name": "response to trametinib"} {"id": "EFO_0007817", "parentIds": ["EFO_0001444"], "name": "sleep apnea measurement"} {"id": "EFO_0007818", "parentIds": ["EFO_0001444"], "name": "athletic endurance measurement"} {"id": "EFO_0007819", "parentIds": ["EFO_0001444"], "name": "advanced glycation end-product measurement"} @@ -13128,7 +15837,6 @@ {"id": "EFO_0007850", "parentIds": ["EFO_0007009"], "name": "solar lentigines measurement"} {"id": "EFO_0007851", "parentIds": ["GO_0008150"], "name": "seroconversion"} {"id": "EFO_0007852", "parentIds": ["EFO_0004747"], "name": "thiopurine methyltransferase activity measurement"} -{"id": "EFO_0007853", "parentIds": ["EFO_0006317"], "name": "response to mercaptopurine"} {"id": "EFO_0007854", "parentIds": ["EFO_0004302"], "name": "knee peak torque measurement"} {"id": "EFO_0007855", "parentIds": ["EFO_0007841"], "name": "facial width measurement"} {"id": "EFO_0007856", "parentIds": ["EFO_0007841"], "name": "facial height measurement"} @@ -13141,12 +15849,8 @@ {"id": "EFO_0007863", "parentIds": ["EFO_0001444"], "name": "illness severity status"} {"id": "EFO_0007864", "parentIds": ["EFO_0001444"], "name": "sulfate measurement"} {"id": "EFO_0007865", "parentIds": ["EFO_0006848"], "name": "loneliness measurement"} -{"id": "EFO_0007866", "parentIds": ["GO_0046677"], "name": "response to rifampicin"} -{"id": "EFO_0007867", "parentIds": ["GO_0097327"], "name": "response to gefitinib"} -{"id": "EFO_0007868", "parentIds": ["GO_0097327"], "name": "response to erlotinib"} {"id": "EFO_0007869", "parentIds": ["EFO_0006848"], "name": "wellbeing measurement"} {"id": "EFO_0007870", "parentIds": ["GO_0036276"], "name": "response to norepinephrine-dopamine reuptake inhibitor"} -{"id": "EFO_0007871", "parentIds": ["EFO_0005658"], "name": "response to escitalopram"} {"id": "EFO_0007872", "parentIds": ["EFO_0004725"], "name": "caffeine metabolite measurement"} {"id": "EFO_0007873", "parentIds": ["EFO_0005890"], "name": "cartilage thickness measurement"} {"id": "EFO_0007874", "parentIds": ["EFO_0007882"], "name": "gut microbiome measurement"} @@ -13192,15 +15896,10 @@ {"id": "EFO_0007914", "parentIds": ["EFO_0007911"], "name": "openness measurement"} {"id": "EFO_0007915", "parentIds": ["EFO_0007911"], "name": "agreeableness measurement"} {"id": "EFO_0007916", "parentIds": ["GO_0036276"], "name": "response to tricyclic antidepressant"} -{"id": "EFO_0007917", "parentIds": ["GO_0036276"], "name": "response to tetracyclic antidepressant"} {"id": "EFO_0007918", "parentIds": ["GO_0009410"], "name": "response to anti-tuberculosis drug"} -{"id": "EFO_0007919", "parentIds": ["EFO_0005533"], "name": "response to diclofenac"} {"id": "EFO_0007920", "parentIds": ["GO_0046677"], "name": "response to fluoroquinolones"} -{"id": "EFO_0007921", "parentIds": ["GO_0046677"], "name": "response to nitrofurantoin"} {"id": "EFO_0007922", "parentIds": ["GO_0009410"], "name": "response to sulfonylurea"} -{"id": "EFO_0007923", "parentIds": ["GO_0009410"], "name": "response to terbinafine"} {"id": "EFO_0007924", "parentIds": ["EFO_0001444"], "name": "tonsillectomy risk measurement"} -{"id": "EFO_0007925", "parentIds": ["GO_0097332"], "name": "response to paliperidone"} {"id": "EFO_0007926", "parentIds": ["GO_0006954"], "name": "hyper-inflammatory immune response"} {"id": "EFO_0007927", "parentIds": ["EFO_0006848"], "name": "schizophrenia symptom severity measurement"} {"id": "EFO_0007928", "parentIds": ["EFO_0004326"], "name": "ventricular rate measurement"} @@ -13215,10 +15914,10 @@ {"id": "EFO_0007937", "parentIds": ["EFO_0004747"], "name": "blood protein measurement"} {"id": "EFO_0007938", "parentIds": ["EFO_0001444"], "name": "coronary atherosclerosis measurement"} {"id": "EFO_0007939", "parentIds": ["EFO_0001444"], "name": "respiratory symptom measurement"} -{"id": "EFO_0007940", "parentIds": ["HP_0002624"], "name": "chronic venous insufficiency"} +{"id": "EFO_0007940", "parentIds": ["HP_0002624", "MONDO_0000945"], "name": "chronic venous insufficiency"} {"id": "EFO_0007941", "parentIds": ["EFO_0001444"], "name": "LDH-related sciatica symptom severity measurement"} {"id": "EFO_0007942", "parentIds": ["EFO_0001444"], "name": "hip osteoarthritis symptom severity measurement"} -{"id": "EFO_0007943", "parentIds": ["EFO_0004647"], "name": "response to platinum-based neoadjuvant chemotherapy"} +{"id": "EFO_0007943", "parentIds": ["OBA_2040037"], "name": "response to platinum-based neoadjuvant chemotherapy"} {"id": "EFO_0007944", "parentIds": ["EFO_0008360"], "name": "allergen exposure measurement"} {"id": "EFO_0007945", "parentIds": ["EFO_0007795"], "name": "agoraphobia symptom measurement"} {"id": "EFO_0007946", "parentIds": ["EFO_0001444"], "name": "tiredness measurement"} @@ -13251,7 +15950,6 @@ {"id": "EFO_0007978", "parentIds": ["EFO_0005047"], "name": "red blood cell density measurement"} {"id": "EFO_0007979", "parentIds": ["EFO_0006848"], "name": "childhood trauma measurement"} {"id": "EFO_0007980", "parentIds": ["EFO_0004464"], "name": "cerebral blood flow measurement"} -{"id": "EFO_0007981", "parentIds": ["EFO_0005405", "GO_0036270"], "name": "response to thiazide"} {"id": "EFO_0007982", "parentIds": ["EFO_0007948"], "name": "mild neurocognitive disorder"} {"id": "EFO_0007983", "parentIds": ["EFO_0007948"], "name": "asymptomatic neurocognitive impairment"} {"id": "EFO_0007984", "parentIds": ["EFO_0005036"], "name": "platelet component distribution width"} @@ -13590,8 +16288,6 @@ {"id": "EFO_0008321", "parentIds": ["EFO_0007937"], "name": "WNT1-inducible-signaling pathway protein 1 measurement"} {"id": "EFO_0008322", "parentIds": ["HP_0002715"], "name": "decreased susceptibility to bacterial infection"} {"id": "EFO_0008323", "parentIds": ["HP_0001939"], "name": "hypocretin deficiency"} -{"id": "EFO_0008324", "parentIds": ["GO_0009410"], "name": "response to sulfasalazine"} -{"id": "EFO_0008325", "parentIds": ["EFO_0007766"], "name": "response to sotalol"} {"id": "EFO_0008326", "parentIds": ["EFO_0001444"], "name": "a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement"} {"id": "EFO_0008327", "parentIds": ["EFO_0001444"], "name": "alpha-1-antitrypsin measurement"} {"id": "EFO_0008328", "parentIds": ["EFO_0004870"], "name": "chronotype measurement"} @@ -13611,7 +16307,6 @@ {"id": "EFO_0008342", "parentIds": ["EFO_0001444"], "name": "parental emotion expression measurmement"} {"id": "EFO_0008343", "parentIds": ["EFO_0001444"], "name": "sex interaction measurement"} {"id": "EFO_0008344", "parentIds": ["GO_0050896"], "name": "response to placebo"} -{"id": "EFO_0008345", "parentIds": ["EFO_0006325"], "name": "response to duloxetine"} {"id": "EFO_0008347", "parentIds": ["GO_0097327"], "name": "response to trastuzumab"} {"id": "EFO_0008348", "parentIds": ["GO_0009410"], "name": "response to ranibizumab"} {"id": "EFO_0008349", "parentIds": ["HP_0002902"], "name": "thiazide-induced hyponatremia"} @@ -13732,7 +16427,6 @@ {"id": "EFO_0008475", "parentIds": ["EFO_0006848"], "name": "mood instability measurement"} {"id": "EFO_0008476", "parentIds": ["EFO_0006848"], "name": "delayed reward discounting measurement"} {"id": "EFO_0008483", "parentIds": ["GO_0050896"], "name": "response to trauma exposure"} -{"id": "EFO_0008484", "parentIds": ["GO_0036277"], "name": "response to carbamazepine"} {"id": "EFO_0008485", "parentIds": ["EFO_0000651"], "name": "homosexuality"} {"id": "EFO_0008486", "parentIds": ["EFO_0008485"], "name": "male homosexuality"} {"id": "EFO_0008487", "parentIds": ["EFO_0006930"], "name": "lateral ventricle volume measurement"} @@ -13760,7 +16454,7 @@ {"id": "EFO_0008511", "parentIds": ["Orphanet_183524", "Orphanet_404584", "Orphanet_183542"], "name": "metopic craniosynostosis"} {"id": "EFO_0008512", "parentIds": ["EFO_0006544"], "name": "micropapillary urothelial carcinoma"} {"id": "EFO_0008513", "parentIds": ["EFO_0003765"], "name": "morphologic finding"} -{"id": "EFO_0008514", "parentIds": ["MONDO_0016756", "MONDO_0015356", "MONDO_0000426", "MONDO_0042983"], "name": "neurofibromatosis"} +{"id": "EFO_0008514", "parentIds": ["MONDO_0015356", "MONDO_0100545", "MONDO_0000426", "MONDO_0042983"], "name": "neurofibromatosis"} {"id": "EFO_0008515", "parentIds": ["EFO_0000389"], "name": "nodular melanoma"} {"id": "EFO_0008516", "parentIds": ["EFO_1000478", "MONDO_0003603"], "name": "non-functioning pituitary adenoma"} {"id": "EFO_0008517", "parentIds": ["EFO_1000726"], "name": "oral lichen planus"} @@ -13814,14 +16508,13 @@ {"id": "EFO_0008577", "parentIds": ["EFO_0004260"], "name": "Juvenile Osteochondrosis"} {"id": "EFO_0008578", "parentIds": ["EFO_0001444"], "name": "sperm motility measurement"} {"id": "EFO_0008579", "parentIds": ["GO_0007610"], "name": "risk-taking behaviour"} -{"id": "EFO_0008580", "parentIds": ["EFO_0005260"], "name": "response to taxane"} {"id": "EFO_0008581", "parentIds": ["EFO_1001047"], "name": "salivary gland disease"} {"id": "EFO_0008582", "parentIds": ["EFO_0004503", "EFO_0004634", "EFO_0007937"], "name": "thrombin activatable fibrinolysis inhibitor activation peptide measurement"} {"id": "EFO_0008583", "parentIds": ["EFO_0000612"], "name": "acute myocardial infarction"} {"id": "EFO_0008584", "parentIds": ["EFO_0000612"], "name": "Subsequent ST elevation (STEMI) and non-ST elevation (NSTEMI) myocardial infarction"} {"id": "EFO_0008585", "parentIds": ["EFO_0008584"], "name": "ST Elevation Myocardial Infarction"} {"id": "EFO_0008586", "parentIds": ["EFO_0008584"], "name": "Non-ST Elevation Myocardial Infarction"} -{"id": "EFO_0008587", "parentIds": ["MONDO_0002025", "EFO_0000677"], "name": "gender identity disorder"} +{"id": "EFO_0008587", "parentIds": ["EFO_0000677"], "name": "gender identity disorder"} {"id": "EFO_0008588", "parentIds": ["EFO_0009541"], "name": "peritonitis"} {"id": "EFO_0008589", "parentIds": ["EFO_0004732", "EFO_0004529"], "name": "esterified cholesterol measurement"} {"id": "EFO_0008590", "parentIds": ["MONDO_0004979"], "name": "Status Asthmaticus"} @@ -13833,9 +16526,9 @@ {"id": "EFO_0008596", "parentIds": ["EFO_0004732"], "name": "chylomicron measurement"} {"id": "EFO_0008597", "parentIds": ["EFO_0008598"], "name": "anti-p200 pemphigoid"} {"id": "EFO_0008598", "parentIds": ["EFO_0005140", "EFO_1000774", "MONDO_0002406", "EFO_0005809"], "name": "autoimmune bullous skin disease"} -{"id": "EFO_0008601", "parentIds": ["EFO_1000749", "MONDO_0018745"], "name": "pemphigus foliaceus"} -{"id": "EFO_0008602", "parentIds": ["EFO_1000749", "EFO_0008598"], "name": "paraneoplastic pemphigus"} -{"id": "EFO_0008603", "parentIds": ["EFO_1000749", "MONDO_0018745"], "name": "pemphigus erythematosus"} +{"id": "EFO_0008601", "parentIds": ["EFO_1000749"], "name": "pemphigus foliaceus"} +{"id": "EFO_0008602", "parentIds": ["MONDO_0700266", "EFO_1000749", "EFO_0008598"], "name": "paraneoplastic pemphigus"} +{"id": "EFO_0008603", "parentIds": ["EFO_1000749"], "name": "pemphigus erythematosus"} {"id": "EFO_0008604", "parentIds": ["EFO_1000749"], "name": "IgA pemphigus"} {"id": "EFO_0008605", "parentIds": ["EFO_1000749"], "name": "IgG/IgA pemphigus"} {"id": "EFO_0008606", "parentIds": ["EFO_1000749"], "name": "pemphigus herpetiformis"} @@ -13863,11 +16556,11 @@ {"id": "EFO_0008997", "parentIds": ["EFO_1001986", "MONDO_0056799", "EFO_0005856"], "name": "synovitis"} {"id": "EFO_0008998", "parentIds": ["EFO_0008997"], "name": "acute synovitis"} {"id": "EFO_0009000", "parentIds": ["EFO_0002427"], "name": "Mast Cell Neoplasm"} -{"id": "EFO_0009001", "parentIds": ["MONDO_0004805", "Orphanet_322126", "MONDO_0019044", "EFO_0009000"], "name": "Mastocytosis"} -{"id": "EFO_0009002", "parentIds": ["EFO_0007352", "EFO_0010282"], "name": "splenic disease"} +{"id": "EFO_0009001", "parentIds": ["MONDO_0004805", "Orphanet_322126", "EFO_0009000"], "name": "Mastocytosis"} +{"id": "EFO_0009002", "parentIds": ["EFO_0007352"], "name": "splenic disease"} {"id": "EFO_0009003", "parentIds": ["EFO_0005771"], "name": "ovarian dysfunction"} {"id": "EFO_0009004", "parentIds": ["EFO_0009003"], "name": "hyperestrogenism"} -{"id": "EFO_0009005", "parentIds": ["EFO_0004266", "EFO_0009003"], "name": "premature menopause"} +{"id": "EFO_0009005", "parentIds": ["EFO_0004266"], "name": "premature menopause"} {"id": "EFO_0009006", "parentIds": ["EFO_0009003"], "name": "hyperandrogenism"} {"id": "EFO_0009007", "parentIds": ["EFO_0009006"], "name": "Adrenal Hyperandrogenism"} {"id": "EFO_0009008", "parentIds": ["EFO_0009006"], "name": "Ovarian Hyperandrogenism"} @@ -13877,7 +16570,7 @@ {"id": "EFO_0009012", "parentIds": ["EFO_0009011"], "name": "Polyarteritis Nodosa"} {"id": "EFO_0009014", "parentIds": ["MONDO_0017359"], "name": "3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia"} {"id": "EFO_0009015", "parentIds": ["Orphanet_183757"], "name": "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome"} -{"id": "EFO_0009016", "parentIds": ["Orphanet_183518", "Orphanet_98693", "MONDO_0957003", "Orphanet_98539"], "name": "Ataxia-oculomotor apraxia type 4"} +{"id": "EFO_0009016", "parentIds": ["Orphanet_183518", "Orphanet_98693", "Orphanet_98539"], "name": "Ataxia-oculomotor apraxia type 4"} {"id": "EFO_0009017", "parentIds": ["Orphanet_320406"], "name": "Autosomal recessive spastic paraplegia type 57"} {"id": "EFO_0009018", "parentIds": ["Orphanet_320406"], "name": "Autosomal recessive spastic paraplegia type 75"} {"id": "EFO_0009019", "parentIds": ["Orphanet_320406"], "name": "Autosomal recessive spastic paraplegia type 76"} @@ -13890,7 +16583,7 @@ {"id": "EFO_0009026", "parentIds": ["MONDO_0015229"], "name": "Bardet-Biedl syndrome 7"} {"id": "EFO_0009027", "parentIds": ["MONDO_0015229"], "name": "Bardet-Biedl syndrome 9"} {"id": "EFO_0009028", "parentIds": ["MONDO_0023603", "EFO_1000017", "EFO_0005755", "Orphanet_271870"], "name": "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome"} -{"id": "EFO_0009029", "parentIds": ["EFO_0009549", "MONDO_0000088", "EFO_0000508"], "name": "Central precocious puberty"} +{"id": "EFO_0009029", "parentIds": ["EFO_0000508", "MONDO_0000088", "EFO_0009549"], "name": "Central precocious puberty"} {"id": "EFO_0009030", "parentIds": ["Orphanet_269567"], "name": "Cerebellar-facial-dental syndrome"} {"id": "EFO_0009031", "parentIds": ["Orphanet_69028"], "name": "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome"} {"id": "EFO_0009032", "parentIds": ["Orphanet_35696"], "name": "Combined oxidative phosphorylation defect type 21"} @@ -13902,17 +16595,17 @@ {"id": "EFO_0009038", "parentIds": ["Orphanet_35696"], "name": "Combined oxidative phosphorylation defect type 30"} {"id": "EFO_0009039", "parentIds": ["Orphanet_163631", "EFO_0005590"], "name": "Congenital bile acid synthesis defect"} {"id": "EFO_0009040", "parentIds": ["Orphanet_391799"], "name": "Cranio-cervical dystonia with laryngeal and upper-limb involvement"} -{"id": "EFO_0009041", "parentIds": ["EFO_0003099"], "name": "Cushing syndrome due to macronodular adrenal hyperplasia"} +{"id": "EFO_0009041", "parentIds": ["MONDO_0020529"], "name": "Cushing syndrome due to macronodular adrenal hyperplasia"} {"id": "EFO_0009042", "parentIds": ["Orphanet_400011"], "name": "Estrogen resistance syndrome"} {"id": "EFO_0009043", "parentIds": ["MONDO_0015104", "MONDO_0100498", "Orphanet_309813", "Orphanet_98696", "Orphanet_183490", "Orphanet_79387", "Orphanet_98056"], "name": "Familial porphyria cutanea tarda"} {"id": "EFO_0009044", "parentIds": ["MONDO_0019391"], "name": "Fanconi anemia complementation group A"} {"id": "EFO_0009045", "parentIds": ["MONDO_0019391"], "name": "Fanconi anemia complementation group F"} {"id": "EFO_0009046", "parentIds": ["MONDO_0019391"], "name": "Fanconi anemia complementation group G"} -{"id": "EFO_0009048", "parentIds": ["Orphanet_101940", "MONDO_0015509"], "name": "Intrahepatic cholestasis of pregnancy"} +{"id": "EFO_0009048", "parentIds": ["EFO_0009534", "Orphanet_101940"], "name": "Intrahepatic cholestasis of pregnancy"} {"id": "EFO_0009049", "parentIds": ["Orphanet_98711", "Orphanet_98666", "Orphanet_98713", "Orphanet_79207", "Orphanet_98056"], "name": "Juvenile nephropathic cystinosis"} {"id": "EFO_0009050", "parentIds": ["Orphanet_183530"], "name": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"} {"id": "EFO_0009051", "parentIds": ["HP_0001939"], "name": "Non-immune hydrops fetalis"} -{"id": "EFO_0009052", "parentIds": ["EFO_0007458", "EFO_1000654"], "name": "Pleuropulmonary blastoma"} +{"id": "EFO_0009052", "parentIds": ["EFO_0000508", "EFO_0007458", "EFO_1000654"], "name": "Pleuropulmonary blastoma"} {"id": "EFO_0009053", "parentIds": ["EFO_0005772"], "name": "Primary progressive aphasia"} {"id": "EFO_0009054", "parentIds": ["EFO_0009193"], "name": "Pulmonary arterial hypertension associated with congenital heart disease"} {"id": "EFO_0009055", "parentIds": ["Orphanet_98097"], "name": "RIDDLE syndrome"} @@ -13924,18 +16617,17 @@ {"id": "EFO_0009061", "parentIds": ["Orphanet_183530"], "name": "TELO2-related intellectual disability-neurodevelopmental disorder"} {"id": "EFO_0009062", "parentIds": ["Orphanet_183530"], "name": "Temple-Baraitser syndrome"} {"id": "EFO_0009063", "parentIds": ["EFO_0001379"], "name": "Wolfram-like syndrome"} -{"id": "EFO_0009064", "parentIds": ["Orphanet_309813", "Orphanet_98056", "Orphanet_79387", "Orphanet_183490"], "name": "X-linked erythropoietic protoporphyria"} +{"id": "EFO_0009064", "parentIds": ["Orphanet_183490", "MONDO_0000425", "Orphanet_98056", "MONDO_0001676", "Orphanet_309813", "Orphanet_79387"], "name": "X-linked erythropoietic protoporphyria"} {"id": "EFO_0009065", "parentIds": ["MONDO_0024647"], "name": "calcium oxalate urolithiasis"} {"id": "EFO_0009066", "parentIds": ["EFO_0000508"], "name": "clcn4-related disorder"} {"id": "EFO_0009067", "parentIds": ["EFO_0001379"], "name": "combined partial 17-alpha-hydroxylase/17,20-lyase deficiency"} -{"id": "EFO_0009068", "parentIds": ["OTAR_0000018"], "name": "dicer1 syndrome"} {"id": "EFO_0009069", "parentIds": ["EFO_0000589"], "name": "hepatic methionine adenosyltransferase deficiency"} {"id": "EFO_0009070", "parentIds": ["EFO_0000508"], "name": "intellectual developmental disorder with dysmorphic facies and ptosis"} -{"id": "EFO_0009071", "parentIds": ["Orphanet_423"], "name": "malignant hyperthermia, susceptibility to, 1"} +{"id": "EFO_0009071", "parentIds": ["Orphanet_352298"], "name": "malignant hyperthermia, susceptibility to, 1"} {"id": "EFO_0009072", "parentIds": ["EFO_0000618", "EFO_0000508"], "name": "mbd5 associated neurodevelopmental disorder"} {"id": "EFO_0009073", "parentIds": ["EFO_0000589"], "name": "methylmalonic aciduria (cobalamin deficiency) cblA type"} {"id": "EFO_0009074", "parentIds": ["Orphanet_289899"], "name": "methylmalonic aciduria cblb type"} -{"id": "EFO_0009075", "parentIds": ["Orphanet_71859", "MONDO_0024257", "MONDO_0015626"], "name": "neuropathy, hereditary motor and sensory, type vib"} +{"id": "EFO_0009075", "parentIds": ["Orphanet_71859", "EFO_0003782", "MONDO_0015626"], "name": "neuropathy, hereditary motor and sensory, type vib"} {"id": "EFO_0009076", "parentIds": ["EFO_0001063"], "name": "nonsyndromic deafness"} {"id": "EFO_0009077", "parentIds": ["EFO_0000508"], "name": "premature chromatid separation trait"} {"id": "EFO_0009078", "parentIds": ["EFO_0000508"], "name": "stag1-related disorder"} @@ -13967,7 +16659,7 @@ {"id": "EFO_0009115", "parentIds": ["EFO_0008360", "EFO_0005671"], "name": "tobacco smoke exposure measurement"} {"id": "EFO_0009116", "parentIds": ["EFO_0600066"], "name": "vitamin supplement exposure measurement"} {"id": "EFO_0009117", "parentIds": ["MONDO_0100120", "EFO_1001128"], "name": "typhus"} -{"id": "EFO_0009118", "parentIds": ["MONDO_0004992", "EFO_0009549"], "name": "female reproductive endometrioid cancer"} +{"id": "EFO_0009118", "parentIds": ["MONDO_0002149", "MONDO_0021148"], "name": "female reproductive endometrioid cancer"} {"id": "EFO_0009119", "parentIds": ["EFO_0001642"], "name": "precursor lymphoblastic lymphoma/leukemia"} {"id": "EFO_0009130", "parentIds": ["EFO_0000771"], "name": "clostridium difficile infection"} {"id": "EFO_0009131", "parentIds": ["GO_0050896"], "name": "response to polyunsaturated fatty acid supplementation"} @@ -13988,8 +16680,8 @@ {"id": "EFO_0009146", "parentIds": ["Orphanet_183573"], "name": "pik3ca related overgrowth spectrum"} {"id": "EFO_0009147", "parentIds": ["Orphanet_101972"], "name": "partial adenosine deaminase deficiency"} {"id": "EFO_0009148", "parentIds": ["EFO_0009041"], "name": "acth-independent macronodular adrenal hyperplasia 2"} -{"id": "EFO_0009149", "parentIds": ["Orphanet_370953", "Orphanet_371064", "MONDO_0019052"], "name": "muscular dystrophy, congenital, with cataracts and intellectual disability"} -{"id": "EFO_0009150", "parentIds": ["Orphanet_101940", "MONDO_0015509"], "name": "cholestasis, intrahepatic, of pregnancy 3"} +{"id": "EFO_0009149", "parentIds": ["EFO_0000589", "Orphanet_370953", "Orphanet_371064"], "name": "muscular dystrophy, congenital, with cataracts and intellectual disability"} +{"id": "EFO_0009150", "parentIds": ["Orphanet_101940", "EFO_0009534"], "name": "cholestasis, intrahepatic, of pregnancy 3"} {"id": "EFO_0009151", "parentIds": ["EFO_0000508"], "name": "cone-rod dystrophy and hearing loss"} {"id": "EFO_0009152", "parentIds": ["MONDO_0015802", "Orphanet_101685"], "name": "intellectual disability, autosomal dominant 52"} {"id": "EFO_0009153", "parentIds": ["EFO_0000701"], "name": "lymphedema, hereditary, iii"} @@ -13997,17 +16689,16 @@ {"id": "EFO_0009155", "parentIds": ["EFO_0000508"], "name": "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy"} {"id": "EFO_0009156", "parentIds": ["Orphanet_101685"], "name": "intellectual disability, autosomal dominant 48"} {"id": "EFO_0009157", "parentIds": ["Orphanet_156601", "EFO_0001068"], "name": "susceptibility to malaria"} -{"id": "EFO_0009158", "parentIds": ["EFO_0000508"], "name": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy"} +{"id": "EFO_0009158", "parentIds": ["MONDO_0024237", "MONDO_0100198"], "name": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy"} {"id": "EFO_0009159", "parentIds": ["Orphanet_35696"], "name": "combined oxidative phosphorylation deficiency 33"} -{"id": "EFO_0009160", "parentIds": ["MONDO_0043009", "MONDO_0016575", "MONDO_0018731", "MONDO_0020145", "Orphanet_399813", "MONDO_0015159", "Orphanet_156610", "Orphanet_71859", "MONDO_0015212"], "name": "stromme syndrome"} +{"id": "EFO_0009160", "parentIds": ["MONDO_0043009", "MONDO_0016575", "Orphanet_399813", "MONDO_0015159", "Orphanet_156610", "Orphanet_71859"], "name": "stromme syndrome"} {"id": "EFO_0009161", "parentIds": ["HP_0001939"], "name": "debrisoquine, poor metabolism of"} {"id": "EFO_0009162", "parentIds": ["MONDO_0018993"], "name": "charcot-marie-tooth disease, axonal, type 2t"} -{"id": "EFO_0009163", "parentIds": ["Orphanet_170"], "name": "woolly hair, autosomal recessive 2, with or without hypotrichosis"} +{"id": "EFO_0009163", "parentIds": ["Orphanet_79366"], "name": "woolly hair, autosomal recessive 2, with or without hypotrichosis"} {"id": "EFO_0009164", "parentIds": ["Orphanet_101685"], "name": "intellectual disability, autosomal dominant 54"} {"id": "EFO_0009165", "parentIds": ["MONDO_0015802", "Orphanet_101685"], "name": "intellectual disability, autosomal dominant 53"} {"id": "EFO_0009166", "parentIds": ["GO_0009410"], "name": "response to ivacaftor - efficacy"} {"id": "EFO_0009167", "parentIds": ["GO_0061476"], "name": "response to warfarin"} -{"id": "EFO_0009168", "parentIds": ["GO_0051384"], "name": "response to prednisolone"} {"id": "EFO_0009169", "parentIds": ["GO_0009410"], "name": "response to deoxygalactonojirimycin"} {"id": "EFO_0009170", "parentIds": ["GO_0009410"], "name": "response to tyrosine kinase inhibitor"} {"id": "EFO_0009172", "parentIds": ["EFO_0004747"], "name": "thyroxine-binding globulin measurement"} @@ -14037,7 +16728,7 @@ {"id": "EFO_0009198", "parentIds": ["EFO_0009193"], "name": "Pulmonary arterial hypertension associated with schistosomiasis"} {"id": "EFO_0009199", "parentIds": ["EFO_0001361", "EFO_0000684"], "name": "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis"} {"id": "EFO_0009200", "parentIds": ["EFO_0009054"], "name": "Eisenmenger syndrome"} -{"id": "EFO_0009201", "parentIds": ["MONDO_0020238"], "name": "myopic macular degeneration"} +{"id": "EFO_0009201", "parentIds": ["MONDO_0100545", "EFO_0003839"], "name": "myopic macular degeneration"} {"id": "EFO_0009202", "parentIds": ["EFO_0004509"], "name": "Reticulocyte Mean Corpuscular Hemoglobin Measurement"} {"id": "EFO_0009203", "parentIds": ["EFO_0004509"], "name": "Carboxyhemoglobin to Total Hemoglobin Ratio Measurement"} {"id": "EFO_0009204", "parentIds": ["EFO_0004509"], "name": "Corpuscular Hemoglobin Concentration Distribution Width"} @@ -14089,7 +16780,7 @@ {"id": "EFO_0009251", "parentIds": ["EFO_0004586"], "name": "Rubricyte Count"} {"id": "EFO_0009252", "parentIds": ["EFO_0004586"], "name": "Segmented Neutrophils to Neutrophils Ratio Measurement"} {"id": "EFO_0009253", "parentIds": ["EFO_0009233"], "name": "Immature Reticulocyte Fraction Measurement"} -{"id": "EFO_0009254", "parentIds": ["MONDO_0016167", "EFO_1000979", "EFO_1001073"], "name": "optic nerve glioblastoma"} +{"id": "EFO_0009254", "parentIds": ["MONDO_0016167", "EFO_1001073", "EFO_1000979"], "name": "optic nerve glioblastoma"} {"id": "EFO_0009255", "parentIds": ["MONDO_0002031", "EFO_0004288"], "name": "cecal neoplasm"} {"id": "EFO_0009256", "parentIds": ["EFO_0008003"], "name": "standard deviation of the normal-to-normal inter beat intervals"} {"id": "EFO_0009257", "parentIds": ["EFO_0008003"], "name": "root mean square of the successive differences of inter beat intervals"} @@ -14132,7 +16823,7 @@ {"id": "EFO_0009298", "parentIds": ["Orphanet_2443", "Orphanet_101940"], "name": "hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency"} {"id": "EFO_0009299", "parentIds": ["MONDO_0017310"], "name": "marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections"} {"id": "EFO_0009300", "parentIds": ["MONDO_0000508", "MONDO_0000426", "MONDO_0100500"], "name": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant"} -{"id": "EFO_0009301", "parentIds": ["MONDO_0018329", "Orphanet_391799"], "name": "dystonia 28, childhood-onset"} +{"id": "EFO_0009301", "parentIds": ["Orphanet_391799", "MONDO_0044807"], "name": "dystonia 28, childhood-onset"} {"id": "EFO_0009302", "parentIds": ["Orphanet_100031", "MONDO_0015047"], "name": "amelogenesis imperfecta, type ij"} {"id": "EFO_0009303", "parentIds": ["EFO_0001444"], "name": "fructosamine measurement"} {"id": "EFO_0009304", "parentIds": ["EFO_0009307"], "name": "percent glycated albumin"} @@ -14182,7 +16873,7 @@ {"id": "EFO_0009358", "parentIds": ["EFO_0006843", "EFO_0004565"], "name": "Anti-hepatitis B virus surface antigen IgG measurement"} {"id": "EFO_0009359", "parentIds": ["EFO_0006843", "EFO_0004565"], "name": "Anti-hepatitis B virus core antigen IgG measurement"} {"id": "EFO_0009360", "parentIds": ["EFO_0010949"], "name": "eyelid sagging measurement"} -{"id": "EFO_0009361", "parentIds": ["EFO_0000365", "EFO_0004288"], "name": "colorectal mucinous adenocarcinoma"} +{"id": "EFO_0009361", "parentIds": ["EFO_1001949"], "name": "colorectal mucinous adenocarcinoma"} {"id": "EFO_0009362", "parentIds": ["EFO_0001444"], "name": "nicotine withdrawal measurement"} {"id": "EFO_0009363", "parentIds": ["EFO_0009784"], "name": "chronic central serous retinopathy"} {"id": "EFO_0009364", "parentIds": ["EFO_0008521"], "name": "non-allergic rhinitis"} @@ -14198,9 +16889,9 @@ {"id": "EFO_0009380", "parentIds": ["EFO_1002051", "MONDO_0016374"], "name": "facial neuralgia"} {"id": "EFO_0009381", "parentIds": ["EFO_0007937"], "name": "fibroblast growth factor 23 measurement"} {"id": "EFO_0009382", "parentIds": ["EFO_0001073"], "name": "metabolically healthy obesity"} -{"id": "EFO_0009383", "parentIds": ["MONDO_0023603", "MONDO_0800084", "EFO_0009385", "Orphanet_306661", "EFO_0003820"], "name": "tumoral calcinosis, hyperphosphatemic, familial, 2"} -{"id": "EFO_0009384", "parentIds": ["Orphanet_306661", "MONDO_0023603", "MONDO_0800084", "EFO_0009385", "EFO_0003820"], "name": "tumoral calcinosis, hyperphosphatemic, familial, 3"} -{"id": "EFO_0009385", "parentIds": ["Orphanet_68336", "MONDO_0002123", "MONDO_0015950", "MONDO_0019052", "EFO_0003769"], "name": "familial tumoral calcinosis"} +{"id": "EFO_0009383", "parentIds": ["EFO_0009385", "Orphanet_306661", "MONDO_0019052"], "name": "tumoral calcinosis, hyperphosphatemic, familial, 2"} +{"id": "EFO_0009384", "parentIds": ["MONDO_0019052", "Orphanet_306661", "EFO_0009385"], "name": "tumoral calcinosis, hyperphosphatemic, familial, 3"} +{"id": "EFO_0009385", "parentIds": ["EFO_0010285", "Orphanet_68336", "MONDO_0002123", "EFO_0003769"], "name": "familial tumoral calcinosis"} {"id": "EFO_0009386", "parentIds": ["EFO_0000618"], "name": "central nervous system disease"} {"id": "EFO_0009387", "parentIds": ["EFO_0000618"], "name": "peripheral nervous system disease"} {"id": "EFO_0009388", "parentIds": ["EFO_0007987"], "name": "sum of basophil and neutrophil counts"} @@ -14261,7 +16952,7 @@ {"id": "EFO_0009445", "parentIds": ["EFO_0009444"], "name": "anoxya"} {"id": "EFO_0009446", "parentIds": ["EFO_0009444"], "name": "asphyxia"} {"id": "EFO_0009447", "parentIds": ["EFO_0009444"], "name": "hypoxemia"} -{"id": "EFO_0009448", "parentIds": ["EFO_0006890", "EFO_0004244"], "name": "pulmonary fibrosis"} +{"id": "EFO_0009448", "parentIds": ["EFO_0006890", "EFO_0004244", "MONDO_0021117"], "name": "pulmonary fibrosis"} {"id": "EFO_0009449", "parentIds": ["EFO_0009464"], "name": "keratitis"} {"id": "EFO_0009450", "parentIds": ["EFO_1000203"], "name": "conjunctivitis"} {"id": "EFO_0009451", "parentIds": ["EFO_0005754"], "name": "hypoparathyroidism"} @@ -14283,7 +16974,7 @@ {"id": "EFO_0009471", "parentIds": ["HP_0000077"], "name": "small kidney"} {"id": "EFO_0009472", "parentIds": ["HP_0000598"], "name": "tympanic membrane perforation"} {"id": "EFO_0009473", "parentIds": ["OBI_1110122"], "name": "hemolysis"} -{"id": "EFO_0009475", "parentIds": ["EFO_0008622"], "name": "cervical polyp"} +{"id": "EFO_0009475", "parentIds": ["EFO_0009484", "MONDO_0002256"], "name": "cervical polyp"} {"id": "EFO_0009476", "parentIds": ["EFO_0000546"], "name": "neck injury"} {"id": "EFO_0009477", "parentIds": ["EFO_1000999", "MONDO_0000812"], "name": "vertebral joint disease"} {"id": "EFO_0009478", "parentIds": ["EFO_0000662", "EFO_0009673"], "name": "vocal cord polyp"} @@ -14336,8 +17027,8 @@ {"id": "EFO_0009535", "parentIds": ["EFO_1001990", "MONDO_0021084"], "name": "binocular vision disease"} {"id": "EFO_0009536", "parentIds": ["EFO_0009547"], "name": "blepharitis"} {"id": "EFO_0009537", "parentIds": ["EFO_0004994"], "name": "cervical disc degenerative disorder"} -{"id": "EFO_0009538", "parentIds": ["EFO_1001116", "EFO_0007292"], "name": "chronic inflammatory demyelinating polyneuropathy"} -{"id": "EFO_0009539", "parentIds": ["MONDO_0020288"], "name": "congenital mitral malformation"} +{"id": "EFO_0009538", "parentIds": ["EFO_0007292", "MONDO_0100545", "EFO_0020092", "MONDO_0000774", "EFO_1001116"], "name": "chronic inflammatory demyelinating polyneuropathy"} +{"id": "EFO_0009539", "parentIds": ["EFO_0005269"], "name": "congenital mitral malformation"} {"id": "EFO_0009540", "parentIds": ["EFO_1001216"], "name": "dental pulp disease"} {"id": "EFO_0009541", "parentIds": ["EFO_0010282"], "name": "disease of peritoneum"} {"id": "EFO_0009542", "parentIds": ["MONDO_0024634"], "name": "disorder of appendix"} @@ -14351,14 +17042,14 @@ {"id": "EFO_0009550", "parentIds": ["EFO_0009386", "MONDO_0700057"], "name": "headache disorder"} {"id": "EFO_0009551", "parentIds": ["EFO_0003777"], "name": "heart valve disease"} {"id": "EFO_0009552", "parentIds": ["MONDO_0004869"], "name": "hemorrhoid"} -{"id": "EFO_0009553", "parentIds": ["MONDO_0017341", "EFO_0009528"], "name": "HIV-associated cancer"} +{"id": "EFO_0009553", "parentIds": ["MONDO_0017341", "EFO_1000051", "EFO_0009528"], "name": "HIV-associated cancer"} {"id": "EFO_0009554", "parentIds": ["EFO_0009431"], "name": "malabsorption syndrome"} {"id": "EFO_0009555", "parentIds": ["EFO_0000512"], "name": "male reproductive system disease"} {"id": "EFO_0009556", "parentIds": ["EFO_0000589"], "name": "mineral metabolism disease"} {"id": "EFO_0009557", "parentIds": ["EFO_0009551"], "name": "mitral valve disease"} {"id": "EFO_0009558", "parentIds": ["EFO_0003100"], "name": "mononeuropathy"} {"id": "EFO_0009559", "parentIds": ["EFO_0003100"], "name": "nerve plexus disease"} -{"id": "EFO_0009560", "parentIds": ["EFO_0009668", "MONDO_0021666", "MONDO_0021669"], "name": "otitis externa"} +{"id": "EFO_0009560", "parentIds": ["EFO_0009668", "MONDO_0020010", "MONDO_0021666", "MONDO_0021669"], "name": "otitis externa"} {"id": "EFO_0009561", "parentIds": ["MONDO_0043424", "EFO_0001067", "EFO_0009431"], "name": "parasitic intestinal disease"} {"id": "EFO_0009562", "parentIds": ["EFO_0003100"], "name": "polyneuropathy"} {"id": "EFO_0009563", "parentIds": ["EFO_1001067"], "name": "protein energy malnutrition"} @@ -14453,7 +17144,7 @@ {"id": "EFO_0009668", "parentIds": ["MONDO_0021205", "EFO_1001455"], "name": "external ear disease"} {"id": "EFO_0009669", "parentIds": ["EFO_0010282"], "name": "flatulence"} {"id": "EFO_0009670", "parentIds": ["MONDO_0044992", "MONDO_0002635"], "name": "gingival disease"} -{"id": "EFO_0009671", "parentIds": ["MONDO_0100308", "MONDO_0024237"], "name": "hereditary ataxia"} +{"id": "EFO_0009671", "parentIds": ["MONDO_0100308", "MONDO_0100545", "EFO_0005772"], "name": "hereditary ataxia"} {"id": "EFO_0009672", "parentIds": ["MONDO_0021205", "EFO_1001455"], "name": "inner ear disease"} {"id": "EFO_0009673", "parentIds": ["MONDO_0004867"], "name": "laryngeal disease"} {"id": "EFO_0009674", "parentIds": ["EFO_0003966"], "name": "lens disease"} @@ -14583,13 +17274,13 @@ {"id": "EFO_0009846", "parentIds": ["EFO_0003765"], "name": "muscle cramp"} {"id": "EFO_0009847", "parentIds": ["EFO_0003765"], "name": "dizziness"} {"id": "EFO_0009848", "parentIds": ["EFO_0003765"], "name": "antiemetic effect"} -{"id": "EFO_0009849", "parentIds": ["EFO_0004323", "GO_0000003"], "name": "sexual arousal"} +{"id": "EFO_0009849", "parentIds": ["EFO_0004323", "GO_0022414"], "name": "sexual arousal"} {"id": "EFO_0009850", "parentIds": ["HP_0000818"], "name": "masculinization of female, CTCAE"} {"id": "EFO_0009851", "parentIds": ["EFO_1000096"], "name": "muscle atrophy"} {"id": "EFO_0009852", "parentIds": ["HP_0012378"], "name": "exhaustion"} {"id": "EFO_0009853", "parentIds": ["HP_0000707"], "name": "convulsion"} {"id": "EFO_0009854", "parentIds": ["EFO_0003761"], "name": "treatment resistant depression"} -{"id": "EFO_0009855", "parentIds": ["MONDO_0007902", "EFO_0009856", "Orphanet_68346"], "name": "frontal fibrosing alopecia"} +{"id": "EFO_0009855", "parentIds": ["EFO_0009856", "Orphanet_68346"], "name": "frontal fibrosing alopecia"} {"id": "EFO_0009856", "parentIds": ["EFO_1000726"], "name": "lichen planopilaris"} {"id": "EFO_0009857", "parentIds": ["GO_0006950"], "name": "ruminative stress response"} {"id": "EFO_0009858", "parentIds": ["EFO_0009857"], "name": "brooding stress response"} @@ -14632,7 +17323,7 @@ {"id": "EFO_0009896", "parentIds": ["EFO_0006846", "EFO_0004747", "EFO_0004556"], "name": "anti-thyroglobulin antibody measurement"} {"id": "EFO_0009902", "parentIds": ["EFO_0003889"], "name": "handedness"} {"id": "EFO_0009904", "parentIds": ["EFO_1000017", "EFO_0000618"], "name": "Lopes-Maciel-Rodan syndrome"} -{"id": "EFO_0009907", "parentIds": ["Orphanet_271832", "EFO_1000541", "EFO_0000497", "MONDO_0017127", "MONDO_0023603"], "name": "Desmoid-type fibromatosis"} +{"id": "EFO_0009907", "parentIds": ["Orphanet_271832", "EFO_1000541", "EFO_0000497", "MONDO_0023603"], "name": "Desmoid-type fibromatosis"} {"id": "EFO_0009908", "parentIds": ["EFO_1000635"], "name": "glabellar hemangioma"} {"id": "EFO_0009909", "parentIds": ["EFO_0003884"], "name": "stage 5 chronic kidney disease"} {"id": "EFO_0009910", "parentIds": ["EFO_0003818"], "name": "chronic lung disease"} @@ -14819,8 +17510,8 @@ {"id": "EFO_0010243", "parentIds": ["EFO_0001444"], "name": "inorganic ion measurement"} {"id": "EFO_0010244", "parentIds": ["EFO_0005127"], "name": "uveal melanoma disease severity"} {"id": "EFO_0010245", "parentIds": ["EFO_0004730"], "name": "oxytocin measurement"} -{"id": "EFO_0010248", "parentIds": ["Orphanet_98693", "Orphanet_183518", "Orphanet_98539", "MONDO_0957003"], "name": "spinocerebellar ataxia, autosomal recessive, 27"} -{"id": "EFO_0010249", "parentIds": ["Orphanet_98539", "MONDO_0957003", "Orphanet_183518", "Orphanet_98693"], "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"} +{"id": "EFO_0010248", "parentIds": ["Orphanet_98693", "Orphanet_183518", "Orphanet_98539"], "name": "spinocerebellar ataxia, autosomal recessive, 27"} +{"id": "EFO_0010249", "parentIds": ["Orphanet_98539", "Orphanet_183518", "Orphanet_98693"], "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"} {"id": "EFO_0010250", "parentIds": ["Orphanet_404571", "Orphanet_183536"], "name": "polydactyly, postaxial, A9"} {"id": "EFO_0010251", "parentIds": ["Orphanet_94145"], "name": "spinocerebellar ataxia 48"} {"id": "EFO_0010252", "parentIds": ["MONDO_0000426"], "name": "Menke-Hennekam syndrome 1"} @@ -14834,9 +17525,9 @@ {"id": "EFO_0010261", "parentIds": ["MONDO_0020605"], "name": "Paganini-Miozzo syndrome"} {"id": "EFO_0010262", "parentIds": ["EFO_1000017"], "name": "leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"} {"id": "EFO_0010263", "parentIds": ["EFO_1000017", "EFO_0010282"], "name": "gastrointestinal ulceration, recurrent, with dysfunctional platelets"} -{"id": "EFO_0010264", "parentIds": ["EFO_0008525", "MONDO_0000426", "MONDO_0024257"], "name": "spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant"} +{"id": "EFO_0010264", "parentIds": ["EFO_0008525", "MONDO_0000426"], "name": "spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant"} {"id": "EFO_0010266", "parentIds": ["MONDO_0019011"], "name": "Charcot-Marie-Tooth disease type 1G"} -{"id": "EFO_0010267", "parentIds": ["MONDO_0015626", "MONDO_0024257", "Orphanet_71859"], "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type G"} +{"id": "EFO_0010267", "parentIds": ["MONDO_0015626", "EFO_0003782", "Orphanet_71859"], "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type G"} {"id": "EFO_0010268", "parentIds": ["EFO_1000017"], "name": "brain abnormalities, neurodegeneration, and dysosteosclerosis"} {"id": "EFO_0010269", "parentIds": ["EFO_0010270"], "name": "amenorrhea"} {"id": "EFO_0010270", "parentIds": ["EFO_0005771"], "name": "Menstrual disorder"} @@ -15140,7 +17831,7 @@ {"id": "EFO_0010575", "parentIds": ["EFO_0007937"], "name": "vascular endothelial growth factor D measurement"} {"id": "EFO_0010576", "parentIds": ["EFO_0006845"], "name": "liver fibrosis measurement"} {"id": "EFO_0010577", "parentIds": ["GO_0009410"], "name": "response to dimethyl fumarate"} -{"id": "EFO_0010580", "parentIds": ["MONDO_0015760", "MONDO_0002898", "EFO_0002427", "MONDO_0100118"], "name": "blastic plasmacytoid dendritic cell neoplasm"} +{"id": "EFO_0010580", "parentIds": ["MONDO_0015760", "MONDO_0002898", "EFO_0002427"], "name": "blastic plasmacytoid dendritic cell neoplasm"} {"id": "EFO_0010581", "parentIds": ["EFO_0008546"], "name": "organophosphate poisoning"} {"id": "EFO_0010582", "parentIds": ["EFO_0009619"], "name": "Morton Neuroma"} {"id": "EFO_0010583", "parentIds": ["EFO_0007937", "EFO_0005127"], "name": "alpha fetoprotein measurement"} @@ -15317,7 +18008,6 @@ {"id": "EFO_0010784", "parentIds": ["EFO_0007937"], "name": "fibroblast growth factor 5 measurement"} {"id": "EFO_0010785", "parentIds": ["EFO_0007937"], "name": "fms-related tyrosine kinase 3 ligand measurement"} {"id": "EFO_0010786", "parentIds": ["EFO_0007937"], "name": "interleukin-10 receptor B measurement"} -{"id": "EFO_0010787", "parentIds": ["EFO_0007937"], "name": "interleukin-12 subunit B measurement"} {"id": "EFO_0010788", "parentIds": ["EFO_0007937"], "name": "leukemia inhibitory factor receptor measurement"} {"id": "EFO_0010789", "parentIds": ["EFO_0007937"], "name": "monocyte chemotactic protein-2 measurement"} {"id": "EFO_0010790", "parentIds": ["EFO_0007937"], "name": "monocyte chemotactic protein-4 measurement"} @@ -15346,7 +18036,7 @@ {"id": "EFO_0010816", "parentIds": ["EFO_0010155"], "name": "dietary fat liking measurement"} {"id": "EFO_0010817", "parentIds": ["HP_0100716"], "name": "self-injurious ideation"} {"id": "EFO_0010818", "parentIds": ["EFO_0008111"], "name": "sensory perception of dietary content"} -{"id": "EFO_0010819", "parentIds": ["EFO_0005803", "MONDO_0021074"], "name": "clonal hematopoiesis"} +{"id": "EFO_0010819", "parentIds": ["MONDO_0060782"], "name": "clonal hematopoiesis"} {"id": "EFO_0010820", "parentIds": ["EFO_0001645"], "name": "spontaneous coronary artery dissection"} {"id": "EFO_0010821", "parentIds": ["EFO_0006845"], "name": "liver fat measurement"} {"id": "EFO_0010822", "parentIds": ["EFO_1001435"], "name": "stenosing tenosynovitis"} @@ -15402,7 +18092,7 @@ {"id": "EFO_0010953", "parentIds": ["EFO_0000407"], "name": "autosomal recessive dilated cardiomyopathy"} {"id": "EFO_0010954", "parentIds": ["MONDO_0020119"], "name": "cask-related x-linked intellectual disability"} {"id": "EFO_0010955", "parentIds": ["MONDO_0000173"], "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12"} -{"id": "EFO_0010956", "parentIds": ["MONDO_0019052"], "name": "peroxisome biogenesis disorder, complementation group 7"} +{"id": "EFO_0010956", "parentIds": ["EFO_0000508", "EFO_0000589"], "name": "peroxisome biogenesis disorder, complementation group 7"} {"id": "EFO_0010966", "parentIds": ["EFO_0007744"], "name": "pneumonia severity measurement"} {"id": "EFO_0010967", "parentIds": ["EFO_0005116"], "name": "urinary microalbumin measurement"} {"id": "EFO_0010968", "parentIds": ["EFO_0001444"], "name": "phosphate measurement"} @@ -15476,13 +18166,13 @@ {"id": "EFO_0011054", "parentIds": ["EFO_0011061", "EFO_0000589"], "name": "metabolic toxicity"} {"id": "EFO_0011055", "parentIds": ["EFO_0011061", "EFO_0009676"], "name": "musculoskeletal toxicity"} {"id": "EFO_0011056", "parentIds": ["EFO_0011061", "EFO_0009690"], "name": "nephrotoxicity"} -{"id": "EFO_0011057", "parentIds": ["EFO_0011061", "EFO_0000618"], "name": "neurotoxicity"} +{"id": "EFO_0011057", "parentIds": ["EFO_0011061", "EFO_0009490"], "name": "neurotoxicity"} {"id": "EFO_0011058", "parentIds": ["EFO_0011057"], "name": "peripheral neurotoxicity"} {"id": "EFO_0011059", "parentIds": ["EFO_0011061", "MONDO_0002025"], "name": "psychiatric toxicity"} {"id": "EFO_0011060", "parentIds": ["EFO_0011061", "EFO_0000684"], "name": "respiratory toxicity"} {"id": "EFO_0011061", "parentIds": ["EFO_0000546"], "name": "toxicity"} {"id": "EFO_0011062", "parentIds": ["EFO_0011061", "EFO_0004264"], "name": "vascular toxicity"} -{"id": "EFO_0011063", "parentIds": ["Orphanet_48471"], "name": "recessive lissencephaly"} +{"id": "EFO_0011063", "parentIds": ["Orphanet_166478"], "name": "recessive lissencephaly"} {"id": "EFO_0011064", "parentIds": ["Orphanet_98364"], "name": "recessive spherocytosis"} {"id": "EFO_0020000", "parentIds": ["MONDO_0100062"], "name": "developmental and epileptic encephalopathy 94"} {"id": "EFO_0020001", "parentIds": ["GO_0008150"], "name": "drug resistance"} @@ -15509,9 +18199,9 @@ {"id": "EFO_0020023", "parentIds": ["EFO_0004725"], "name": "N-acetyltaurine measurement"} {"id": "EFO_0020024", "parentIds": ["EFO_0004725"], "name": "X-15728 measurement"} {"id": "EFO_0020025", "parentIds": ["EFO_0009532"], "name": "central hypoventilation syndrome, late-onset"} -{"id": "EFO_0020026", "parentIds": ["Orphanet_71862"], "name": "autosomal recessive retinitis pigmentosa"} +{"id": "EFO_0020026", "parentIds": ["Orphanet_98657"], "name": "autosomal recessive retinitis pigmentosa"} {"id": "EFO_0020027", "parentIds": ["EFO_1000727"], "name": "susceptibility to partial acquired lipodystrophy"} -{"id": "EFO_0020028", "parentIds": ["Orphanet_71862"], "name": "autosomal dominant retinitis pigmentosa"} +{"id": "EFO_0020028", "parentIds": ["Orphanet_98657"], "name": "autosomal dominant retinitis pigmentosa"} {"id": "EFO_0020029", "parentIds": ["Orphanet_1872"], "name": "autosomal recessive cone rod dystrophy"} {"id": "EFO_0020030", "parentIds": ["MONDO_0002320"], "name": "tubulinopathy"} {"id": "EFO_0020031", "parentIds": ["EFO_0009558"], "name": "mononeuropathy of the median nerve"} @@ -15522,7 +18212,7 @@ {"id": "EFO_0020036", "parentIds": ["Orphanet_206634"], "name": "autosomal recessive nemaline myopathy"} {"id": "EFO_0020037", "parentIds": ["Orphanet_95494"], "name": "autosominal recessive combined pituitary hormone deficiency"} {"id": "EFO_0020038", "parentIds": ["MONDO_0025986"], "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome 5"} -{"id": "EFO_0020039", "parentIds": ["Orphanet_68366", "Orphanet_98666", "Orphanet_183500", "Orphanet_98713"], "name": "neuronal ceroid-lipofuscinosis, dominant/recessive"} +{"id": "EFO_0020039", "parentIds": ["Orphanet_68366", "Orphanet_98666", "Orphanet_183500", "Orphanet_98713", "MONDO_0004884"], "name": "neuronal ceroid-lipofuscinosis, dominant/recessive"} {"id": "EFO_0020040", "parentIds": ["Orphanet_183625", "EFO_0010238"], "name": "transient neonatal diabetes, dominant/recessive"} {"id": "EFO_0020041", "parentIds": ["Orphanet_590"], "name": "congenital myasthenic syndrome, dominant/recessive"} {"id": "EFO_0020042", "parentIds": ["EFO_0005110"], "name": "jasmonic acid measurement"} @@ -15573,7 +18263,7 @@ {"id": "EFO_0020090", "parentIds": ["EFO_0008111"], "name": "dietary cholesterol intake measurement"} {"id": "EFO_0020091", "parentIds": ["EFO_0008111"], "name": "dietary phosphorus intake measurement"} {"id": "EFO_0020092", "parentIds": ["EFO_0009386", "MONDO_0002977"], "name": "neuroinflammatory disorder"} -{"id": "EFO_0020094", "parentIds": ["MONDO_0018743", "MONDO_0018215"], "name": "Lambert-Eaton myasthenic syndrome"} +{"id": "EFO_0020094", "parentIds": ["MONDO_0018215"], "name": "Lambert-Eaton myasthenic syndrome"} {"id": "EFO_0020095", "parentIds": ["EFO_0007702"], "name": "trochanter bone mineral density"} {"id": "EFO_0020096", "parentIds": ["EFO_0004298"], "name": "mitral valve annular diameter"} {"id": "EFO_0020097", "parentIds": ["EFO_0004327"], "name": "QRS-T angle"} @@ -16139,7 +18829,6 @@ {"id": "EFO_0020657", "parentIds": ["EFO_0004747"], "name": "proliferating cell nuclear antigen measurement"} {"id": "EFO_0020658", "parentIds": ["EFO_0004747"], "name": "proliferation-associated protein 2g4 measurement"} {"id": "EFO_0020659", "parentIds": ["EFO_0004747"], "name": "prostaglandin g/h synthase 2 measurement"} -{"id": "EFO_0020660", "parentIds": ["EFO_0004747"], "name": "prostate-specific antigen measurement"} {"id": "EFO_0020661", "parentIds": ["EFO_0004747"], "name": "proteasome activator complex subunit 1 measurement"} {"id": "EFO_0020662", "parentIds": ["EFO_0004747"], "name": "proteasome activator complex subunit 3 measurement"} {"id": "EFO_0020663", "parentIds": ["EFO_0004747"], "name": "proteasome subunit alpha type-1 measurement"} @@ -16988,7 +19677,7 @@ {"id": "EFO_0021513", "parentIds": ["EFO_0004725"], "name": "3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio"} {"id": "EFO_0021514", "parentIds": ["EFO_0004725"], "name": "acetylcarnitine-to-hexanoylcarnitine ratio"} {"id": "EFO_0021515", "parentIds": ["EFO_0004725"], "name": "androsterone sulfate-to-epiandrosterone sulfate ratio"} -{"id": "EFO_0021516", "parentIds": ["EFO_1000157", "EFO_0000309"], "name": "central nervous system Burkitt lymphoma"} +{"id": "EFO_0021516", "parentIds": ["MONDO_0044887", "EFO_0000309"], "name": "central nervous system Burkitt lymphoma"} {"id": "EFO_0021517", "parentIds": ["EFO_0004725"], "name": "arachidonate 20:4n6-to-dihomo-linolenate 20:3n3 or n6 ratio"} {"id": "EFO_0021518", "parentIds": ["EFO_0004725"], "name": "linoleate 18:2n6-to-dihomo-linolenate 20:3n3 or n6 ratio"} {"id": "EFO_0021519", "parentIds": ["EFO_0004725"], "name": "linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio"} @@ -17043,7 +19732,6 @@ {"id": "EFO_0021569", "parentIds": ["EFO_0004725"], "name": "4-Pyridoxic acid measurement"} {"id": "EFO_0021570", "parentIds": ["EFO_0004725"], "name": "5-Methyluridine measurement"} {"id": "EFO_0021571", "parentIds": ["EFO_0004725"], "name": "5'-Deoxy-5'-(methylthio) adenosine measurement"} -{"id": "EFO_0021572", "parentIds": ["EFO_0004725"], "name": "9,10-dihome measurement"} {"id": "EFO_0021573", "parentIds": ["EFO_0004725"], "name": "Adenine measurement"} {"id": "EFO_0021574", "parentIds": ["EFO_0004725"], "name": "Adenosine 5'-monophosphate measurement"} {"id": "EFO_0021575", "parentIds": ["EFO_0004725"], "name": "Adipic acid measurement"} @@ -17806,6 +20494,20 @@ {"id": "EFO_0022379", "parentIds": ["EFO_0001444"], "name": "American College of Rheumatology Improvement Criteria"} {"id": "EFO_0022381", "parentIds": ["EFO_0001444"], "name": "Health Assessment Questionnaire Disability Index"} {"id": "EFO_0022382", "parentIds": ["EFO_0001444"], "name": "psoriasis area and severity index"} +{"id": "EFO_0022485", "parentIds": ["MONDO_0008192", "EFO_1001176"], "name": "paragangliomas with sensorineural hearing loss"} +{"id": "EFO_0022486", "parentIds": ["EFO_0000508"], "name": "tp63-related spectrum disorders"} +{"id": "EFO_0022487", "parentIds": ["Orphanet_183757"], "name": "rare syndromic intellectual disability"} +{"id": "EFO_0022489", "parentIds": ["EFO_0000508"], "name": "chitotriosidase deficiency"} +{"id": "EFO_0022493", "parentIds": ["MONDO_0019354"], "name": "Stickler syndrome, dominant"} +{"id": "EFO_0022494", "parentIds": ["MONDO_0015231"], "name": "antenatal Bartter syndrome"} +{"id": "EFO_0022495", "parentIds": ["EFO_0700094"], "name": "autosomal recessive axonal hereditary motor and sensory neuropathy"} +{"id": "EFO_0022496", "parentIds": ["MONDO_0019354"], "name": "Stickler syndrom, recessive"} +{"id": "EFO_0022517", "parentIds": ["MONDO_0015760"], "name": "NK-92"} +{"id": "EFO_0022534", "parentIds": ["EFO_1001950"], "name": "VACO 481"} +{"id": "EFO_0022550", "parentIds": ["EFO_0000220"], "name": "NKL"} +{"id": "EFO_0022578", "parentIds": ["EFO_0000637"], "name": "G-292"} +{"id": "EFO_0022597", "parentIds": ["GO_0032502"], "name": "aging"} +{"id": "EFO_0022599", "parentIds": ["GO_0006139", "GO_0043412"], "name": "DNA methylation"} {"id": "EFO_0030082", "parentIds": ["EFO_0001444"], "name": "polygenic risk score"} {"id": "EFO_0600000", "parentIds": ["EFO_0004555"], "name": "sortilin measurement"} {"id": "EFO_0600001", "parentIds": ["EFO_0004730"], "name": "ghrelin measurement"} @@ -17901,6 +20603,125 @@ {"id": "EFO_0600094", "parentIds": ["EFO_0001444"], "name": "skin roughness measurement"} {"id": "EFO_0600095", "parentIds": ["EFO_0003819"], "name": "primary dental caries"} {"id": "EFO_0600096", "parentIds": ["EFO_0003819"], "name": "permanent dental caries"} +{"id": "EFO_0700020", "parentIds": ["MONDO_0000426", "EFO_0003865"], "name": "Birt-Hogg-Dube syndrome"} +{"id": "EFO_0700021", "parentIds": ["EFO_1000017", "MONDO_0016830"], "name": "autosomal recessive Emery-Dreifuss muscular dystrophy"} +{"id": "EFO_0700022", "parentIds": ["MONDO_0015905", "MONDO_0019245"], "name": "lysosomal acid lipase deficiency"} +{"id": "EFO_0700023", "parentIds": ["MONDO_0000009"], "name": "bleeding diathesis due to thromboxane synthesis deficiency"} +{"id": "EFO_0700024", "parentIds": ["MONDO_0000032", "MONDO_0017704"], "name": "familial mesial temporal lobe epilepsy with febrile seizures"} +{"id": "EFO_0700025", "parentIds": ["EFO_1000017", "MONDO_0004884", "MONDO_0043878", "MONDO_0020249"], "name": "autosomal recessive optic atrophy"} +{"id": "EFO_0700026", "parentIds": ["MONDO_0000426", "MONDO_0015149"], "name": "autosomal dominant pure spastic paraplegia"} +{"id": "EFO_0700027", "parentIds": ["MONDO_0015150", "EFO_1000017"], "name": "autosomal recessive complex spastic paraplegia"} +{"id": "EFO_0700028", "parentIds": ["EFO_0010282"], "name": "gastroesophageal disease"} +{"id": "EFO_0700029", "parentIds": ["EFO_0700063"], "name": "brain inflammatory disease"} +{"id": "EFO_0700030", "parentIds": ["EFO_0700116"], "name": "syndromic anorectal malformation"} +{"id": "EFO_0700031", "parentIds": ["EFO_0700094"], "name": "autosomal dominant hereditary axonal motor and sensory neuropathy"} +{"id": "EFO_0700032", "parentIds": ["MONDO_0018776", "EFO_1000017"], "name": "autosomal recessive hereditary demyelinating motor and sensory neuropathy"} +{"id": "EFO_0700033", "parentIds": ["MONDO_0000426", "MONDO_0015364"], "name": "autosomal dominant hereditary sensory and autonomic neuropathy"} +{"id": "EFO_0700034", "parentIds": ["EFO_0700115"], "name": "autosomal recessive hereditary sensory and autonomic neuropathy"} +{"id": "EFO_0700035", "parentIds": ["MONDO_0015411"], "name": "lateral facial cleft"} +{"id": "EFO_0700036", "parentIds": ["MONDO_0016333"], "name": "familial isolated dilated cardiomyopathy"} +{"id": "EFO_0700037", "parentIds": ["MONDO_0017704"], "name": "benign familial mesial temporal lobe epilepsy"} +{"id": "EFO_0700038", "parentIds": ["EFO_0700062"], "name": "autosomal thrombocytopenia with normal platelets"} +{"id": "EFO_0700039", "parentIds": ["MONDO_0019952"], "name": "congenital myopathy with cores"} +{"id": "EFO_0700040", "parentIds": ["EFO_0700100"], "name": "syndromic hypothyroidism"} +{"id": "EFO_0700041", "parentIds": ["MONDO_0001475", "MONDO_0017769"], "name": "acquired neutropenia"} +{"id": "EFO_0700042", "parentIds": ["EFO_0700100", "EFO_0700064"], "name": "primary immunodeficiency due to a defect in adaptive immunity"} +{"id": "EFO_0700043", "parentIds": ["EFO_0700117"], "name": "cerebellar malformation"} +{"id": "EFO_0700044", "parentIds": ["EFO_0700116"], "name": "ARX-related epileptic encephalopathy"} +{"id": "EFO_0700045", "parentIds": ["MONDO_0020022"], "name": "cerebral malformation"} +{"id": "EFO_0700046", "parentIds": ["MONDO_0016120"], "name": "congenital myotonia"} +{"id": "EFO_0700047", "parentIds": ["EFO_0700045"], "name": "qualitative or quantitative defects of merosin"} +{"id": "EFO_0700048", "parentIds": ["MONDO_0016139"], "name": "qualitative or quantitative defects of calpain"} +{"id": "EFO_0700049", "parentIds": ["MONDO_0016139"], "name": "qualitative or quantitative defects of myotubularin"} +{"id": "EFO_0700050", "parentIds": ["EFO_0700115"], "name": "chronic acquired demyelinating polyneuropathy"} +{"id": "EFO_0700051", "parentIds": ["MONDO_0000426", "MONDO_0019079"], "name": "autosomal dominant proximal spinal muscular atrophy"} +{"id": "EFO_0700052", "parentIds": ["EFO_0700063"], "name": "semilobar holoprosencephaly"} +{"id": "EFO_0700053", "parentIds": ["MONDO_0016408"], "name": "primary congenital hypothyroidism"} +{"id": "EFO_0700054", "parentIds": ["MONDO_0001029"], "name": "isolated Klippel-Feil syndrome"} +{"id": "EFO_0700055", "parentIds": ["MONDO_0016537"], "name": "autosomal recessive lymphoproliferative disease"} +{"id": "EFO_0700056", "parentIds": ["OTAR_0000018", "EFO_0000618"], "name": "progressive cerebello-cerebral atrophy"} +{"id": "EFO_0700057", "parentIds": ["MONDO_0000426", "MONDO_0016540", "MONDO_0001115"], "name": "autosomal dominant secondary polycythemia"} +{"id": "EFO_0700058", "parentIds": ["MONDO_0003268", "EFO_1000356", "MONDO_0100342"], "name": "oligoastrocytic tumor"} +{"id": "EFO_0700059", "parentIds": ["MONDO_0021193"], "name": "neuronal tumor"} +{"id": "EFO_0700060", "parentIds": ["MONDO_0016106", "MONDO_0016333"], "name": "Duchenne and Becker muscular dystrophy"} +{"id": "EFO_0700061", "parentIds": ["MONDO_0015168"], "name": "hypomyelination neuropathy-arthrogryposis syndrome"} +{"id": "EFO_0700062", "parentIds": ["EFO_0010283"], "name": "hereditary thrombocytopenia with normal platelets"} +{"id": "EFO_0700063", "parentIds": ["EFO_0700045"], "name": "midline cerebral malformation"} +{"id": "EFO_0700064", "parentIds": ["OTAR_0000018", "EFO_0000319"], "name": "hereditary cardiac anomaly"} +{"id": "EFO_0700065", "parentIds": ["MONDO_0018634"], "name": "hereditary ATTR amyloidosis"} +{"id": "EFO_0700066", "parentIds": ["MONDO_0019050", "MONDO_0002280"], "name": "sickle cell disease and related diseases"} +{"id": "EFO_0700067", "parentIds": ["EFO_0004248"], "name": "non-syndromic male infertility due to sperm motility disorder"} +{"id": "EFO_0700068", "parentIds": ["EFO_0700063"], "name": "septopreoptic holoprosencephaly"} +{"id": "EFO_0700069", "parentIds": ["EFO_0004720", "MONDO_0024237", "MONDO_0018926"], "name": "inherited prion disease"} +{"id": "EFO_0700070", "parentIds": ["MONDO_0018234"], "name": "split hand or/and split foot malformation"} +{"id": "EFO_0700071", "parentIds": ["EFO_0009431"], "name": "familial infantile gigantism"} +{"id": "EFO_0700072", "parentIds": ["MONDO_0020127", "MONDO_0000426"], "name": "sodium channelopathy-related small fiber neuropathy"} +{"id": "EFO_0700073", "parentIds": ["MONDO_0017913"], "name": "pure or complex autosomal recessive spastic paraplegia"} +{"id": "EFO_0700074", "parentIds": ["MONDO_0019287"], "name": "deafness-onychodystrophy syndrome"} +{"id": "EFO_0700075", "parentIds": ["MONDO_0015159"], "name": "microcephalic primordial dwarfism"} +{"id": "EFO_0700076", "parentIds": ["EFO_0700115"], "name": "isolated scaphocephaly"} +{"id": "EFO_0700077", "parentIds": ["EFO_0700115"], "name": "isolated plagiocephaly"} +{"id": "EFO_0700078", "parentIds": ["EFO_0700115"], "name": "isolated brachycephaly"} +{"id": "EFO_0700079", "parentIds": ["EFO_0700063"], "name": "congenital myasthenic syndromes with glycosylation defect"} +{"id": "EFO_0700080", "parentIds": ["MONDO_0000147", "EFO_0009431"], "name": "hereditary intestinal polyposis"} +{"id": "EFO_0700081", "parentIds": ["MONDO_0015183"], "name": "primary short bowel syndrome"} +{"id": "EFO_0700082", "parentIds": ["MONDO_0015583"], "name": "homozygous 2p21 microdeletion syndrome"} +{"id": "EFO_0700083", "parentIds": ["MONDO_0016677"], "name": "fetal anticonvulsant syndrome"} +{"id": "EFO_0700084", "parentIds": ["MONDO_0018276"], "name": "congenital muscular dystrophy with cerebellar involvement"} +{"id": "EFO_0700085", "parentIds": ["MONDO_0018276"], "name": "congenital muscular dystrophy without intellectual disability"} +{"id": "EFO_0700086", "parentIds": ["MONDO_0018282"], "name": "primary qualitative or quantitative defects of alpha-dystroglycan"} +{"id": "EFO_0700087", "parentIds": ["MONDO_0001713"], "name": "hereditary isolated aplastic anemia"} +{"id": "EFO_0700088", "parentIds": ["EFO_0004248"], "name": "male infertility with azoospermia or oligozoospermia due to single gene mutation"} +{"id": "EFO_0700089", "parentIds": ["MONDO_0018894", "MONDO_0000425"], "name": "X-linked distal hereditary motor neuropathy"} +{"id": "EFO_0700090", "parentIds": ["OTAR_0000018"], "name": "intellectual disability-expressive aphasia-facial dysmorphism syndrome"} +{"id": "EFO_0700091", "parentIds": ["MONDO_0019852"], "name": "microcephalic primordial dwarfism-insulin resistance syndrome"} +{"id": "EFO_0700092", "parentIds": ["MONDO_0019952"], "name": "congenital nemaline myopathy"} +{"id": "EFO_0700093", "parentIds": ["EFO_0700100", "EFO_0700064"], "name": "familial patent arterial duct"} +{"id": "EFO_0700094", "parentIds": ["MONDO_0015626", "MONDO_0015358"], "name": "axonal hereditary motor and sensory neuropathy"} +{"id": "EFO_0700095", "parentIds": ["MONDO_0019751"], "name": "type 1 interferonopathy"} +{"id": "EFO_0700096", "parentIds": ["EFO_0003763"], "name": "COL4A1 or COL4A2-related cerebral small vessel disease"} +{"id": "EFO_0700097", "parentIds": ["EFO_0700116"], "name": "HTRA1-related cerebral small vessel disease"} +{"id": "EFO_0700098", "parentIds": ["MONDO_0000733"], "name": "congenital cornea plana"} +{"id": "EFO_0700099", "parentIds": ["EFO_0700116"], "name": "isolated anorectal malformation"} +{"id": "EFO_0700100", "parentIds": ["EFO_0004264"], "name": "vascular anomaly"} +{"id": "EFO_0700101", "parentIds": ["EFO_0009431"], "name": "intractable diarrhea of infancy"} +{"id": "EFO_0700102", "parentIds": ["MONDO_0016340"], "name": "familial isolated restrictive cardiomyopathy"} +{"id": "EFO_0700103", "parentIds": ["MONDO_0017951", "MONDO_0000426"], "name": "trichorhinophalangeal syndrome type I or III"} +{"id": "EFO_0700104", "parentIds": ["MONDO_0019250", "MONDO_0037871", "MONDO_0019189"], "name": "inborn disorder of gamma-aminobutyric acid metabolism"} +{"id": "EFO_0700105", "parentIds": ["MONDO_0100207"], "name": "myoclonic epilepsy of infancy"} +{"id": "EFO_0700106", "parentIds": ["MONDO_0015770"], "name": "hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"} +{"id": "EFO_0700107", "parentIds": ["MONDO_0019297"], "name": "syndromic lymphedema"} +{"id": "EFO_0700108", "parentIds": ["MONDO_0001280"], "name": "non-infectious posterior uveitis"} +{"id": "EFO_0700109", "parentIds": ["MONDO_0019296"], "name": "primary lipodystrophy"} +{"id": "EFO_0700110", "parentIds": ["MONDO_0056803", "MONDO_0019052", "MONDO_0018230"], "name": "sulfation-related bone disorder"} +{"id": "EFO_0700111", "parentIds": ["MONDO_0018230"], "name": "multiple metaphyseal dysplasia"} +{"id": "EFO_0700112", "parentIds": ["EFO_0700115"], "name": "lethal chondrodysplasia"} +{"id": "EFO_0700113", "parentIds": ["EFO_0700063"], "name": "midline interhemispheric variant of holoprosencephaly"} +{"id": "EFO_0700114", "parentIds": ["MONDO_0002520"], "name": "chronic hepatic porphyria"} +{"id": "EFO_0700115", "parentIds": ["EFO_0700118"], "name": "cranial malformation"} +{"id": "EFO_0700116", "parentIds": ["MONDO_0019755"], "name": "digestive tract malformation"} +{"id": "EFO_0700117", "parentIds": ["EFO_0700118"], "name": "posterior fossa malformation"} +{"id": "EFO_0700118", "parentIds": ["EFO_0003966", "MONDO_0019755"], "name": "developmental defect of the eye"} +{"id": "EFO_0700119", "parentIds": ["EFO_0700118"], "name": "anophthalmia-microphthalmia syndrome"} +{"id": "EFO_0700120", "parentIds": ["EFO_0700118"], "name": "syndromic aniridia"} +{"id": "EFO_0700121", "parentIds": ["Orphanet_98560"], "name": "epicanthal fold"} +{"id": "EFO_0700122", "parentIds": ["MONDO_0018174"], "name": "secondary dysgenetic glaucoma"} +{"id": "EFO_0700123", "parentIds": ["MONDO_0019200"], "name": "syndromic retinitis pigmentosa"} +{"id": "EFO_0700124", "parentIds": ["EFO_0700100"], "name": "aortic malformation"} +{"id": "EFO_0700125", "parentIds": ["EFO_0009551", "EFO_0005269"], "name": "atrioventricular valve anomaly"} +{"id": "EFO_0700126", "parentIds": ["MONDO_0016188", "MONDO_0018943", "MONDO_0002320"], "name": "alpha-crystallinopathy"} +{"id": "EFO_0700127", "parentIds": ["MONDO_0018940"], "name": "presynaptic congenital myasthenic syndrome"} +{"id": "EFO_0700128", "parentIds": ["MONDO_0018940"], "name": "synaptic congenital myasthenic syndrome"} +{"id": "EFO_0700129", "parentIds": ["EFO_0700118"], "name": "coralliform cataract"} +{"id": "EFO_0700130", "parentIds": ["EFO_0700118"], "name": "ovarioleukodystrophy"} +{"id": "EFO_0700131", "parentIds": ["MONDO_0016365"], "name": "primary parathyroid hyperplasia"} +{"id": "EFO_0700132", "parentIds": ["MONDO_0019623"], "name": "hereditary angioedema with normal C1Inh"} +{"id": "EFO_0700133", "parentIds": ["MONDO_0020066"], "name": "kyphoscoliotic Ehlers-Danlos syndrome"} +{"id": "EFO_0700134", "parentIds": ["EFO_0700063"], "name": "resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"} +{"id": "EFO_0700135", "parentIds": ["MONDO_0019716"], "name": "PIK3CA-related overgrowth syndrome"} +{"id": "EFO_0700136", "parentIds": ["MONDO_0017773"], "name": "apolipoprotein A-I deficiency"} +{"id": "EFO_0700137", "parentIds": ["MONDO_0018230"], "name": "primary bone dysplasia with increased bone density"} +{"id": "EFO_0700138", "parentIds": ["MONDO_0018230"], "name": "primary bone dysplasia with multiple joint dislocations"} {"id": "EFO_0800000", "parentIds": ["EFO_0008111"], "name": "folate intake measurement"} {"id": "EFO_0800001", "parentIds": ["MONDO_0003000"], "name": "intracranial germ cell tumor"} {"id": "EFO_0800002", "parentIds": ["EFO_0004725"], "name": "5-hydroxylysine measurement"} @@ -18525,7 +21346,6 @@ {"id": "EFO_0800621", "parentIds": ["EFO_0004725"], "name": "myo-inositol measurement"} {"id": "EFO_0800622", "parentIds": ["EFO_0004725"], "name": "methylmalonate (MMA) measurement"} {"id": "EFO_0800623", "parentIds": ["EFO_0004725"], "name": "pristanate measurement"} -{"id": "EFO_0800624", "parentIds": ["EFO_0004725"], "name": "12,13-DiHOME measurement"} {"id": "EFO_0800625", "parentIds": ["EFO_0004725"], "name": "arachidate (20:0) measurement"} {"id": "EFO_0800626", "parentIds": ["EFO_0004725"], "name": "N-stearoyl-sphinganine (d18:0/18:0) measurement"} {"id": "EFO_0800627", "parentIds": ["EFO_0004725"], "name": "N1-methylinosine measurement"} @@ -21448,17 +24268,157 @@ {"id": "EFO_0803546", "parentIds": ["EFO_0004503"], "name": "lymphocyte measurement"} {"id": "EFO_0803547", "parentIds": ["EFO_0004503"], "name": "monocyte measurement"} {"id": "EFO_0803548", "parentIds": ["EFO_0004503"], "name": "neutrophil measurement"} +{"id": "EFO_0803549", "parentIds": ["EFO_0004725"], "name": "N2-acetyl,N6,N6-dimethyllysine measurement"} +{"id": "EFO_0803550", "parentIds": ["EFO_0004725"], "name": "2-linoleoylglycerophosphoethanolamine measurement"} +{"id": "EFO_0803551", "parentIds": ["EFO_0004725"], "name": "2-palmitoylglycerophosphoethanolamine measurement"} +{"id": "EFO_0803552", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2) measurement"} +{"id": "EFO_0803553", "parentIds": ["EFO_0004725"], "name": "palmitoleoyl-arachidonoyl-glycerol (16:1/20:4) [2] measurement"} +{"id": "EFO_0803554", "parentIds": ["EFO_0004725"], "name": "eicosenedioate (C20:1-DC) measurement"} +{"id": "EFO_0803555", "parentIds": ["EFO_0004725"], "name": "stearoyl-linoleoyl-glycerophosphoethanolamine (1) measurement"} +{"id": "EFO_0803556", "parentIds": ["EFO_0004725"], "name": "palmitoyl-arachidonoyl-glycerophosphocholine (1) measurement"} +{"id": "EFO_0803557", "parentIds": ["EFO_0004725"], "name": "palmitoyl-arachidonoyl-glycerophosphocholine (2) measurement"} +{"id": "EFO_0803558", "parentIds": ["EFO_0004725"], "name": "stearoyl-arachidonoyl-glycerophosphocholine (1) measurement"} +{"id": "EFO_0803559", "parentIds": ["EFO_0004725"], "name": "stearoyl-arachidonoyl-glycerophosphocholine (2) measurement"} +{"id": "EFO_0803560", "parentIds": ["EFO_0004725"], "name": "stearoyl-linoleoyl-glycerophosphocholine (1) measurement"} +{"id": "EFO_0803561", "parentIds": ["EFO_0004725"], "name": "ceramide (d18:1/20:0, d16:1/22:0, d20:1/18:0) measurement"} +{"id": "EFO_0803562", "parentIds": ["EFO_0004725"], "name": "C38:4 phosphatidylserine plasmalogen measurement"} +{"id": "EFO_0803563", "parentIds": ["EFO_0004725"], "name": "C38:3 phosphatidylserine plasmalogen measurement"} +{"id": "EFO_0803564", "parentIds": ["EFO_0004725"], "name": "C40:4 phosphatidylserine plasmalogen measurement"} +{"id": "EFO_0803565", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d18:2/21:0, d16:2/23:0) measurement"} +{"id": "EFO_0803566", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d17:2/16:0, d18:2/15:0) measurement"} +{"id": "EFO_0803567", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d18:1/19:0, d19:1/18:0) measurement"} +{"id": "EFO_0803568", "parentIds": ["EFO_0004725"], "name": "isoursodeoxycholate sulfate (2) measurement"} +{"id": "EFO_0803569", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2) measurement"} +{"id": "EFO_0803570", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d18:2/23:1) measurement"} +{"id": "EFO_0803571", "parentIds": ["EFO_0004725"], "name": "asparagylleucine measurement"} +{"id": "EFO_0803572", "parentIds": ["EFO_0004725"], "name": "asparagylvaline measurement"} +{"id": "EFO_0803573", "parentIds": ["EFO_0004725"], "name": "1-eicosatrienoylglycerophosphoethanolamine measurement"} +{"id": "EFO_0803574", "parentIds": ["EFO_0010118"], "name": "eicosenoyl sphingomyelin measurement"} +{"id": "EFO_0803575", "parentIds": ["EFO_0004725"], "name": "stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement"} +{"id": "EFO_0803576", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0) measurement"} +{"id": "EFO_0803577", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d18:0/20:0, d16:0/22:0) measurement"} +{"id": "EFO_0803578", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) measurement"} +{"id": "EFO_0803579", "parentIds": ["EFO_0004725"], "name": "azelaoyltaurine measurement"} +{"id": "EFO_0803580", "parentIds": ["EFO_0004725"], "name": "methylsuccinoylcarnitine measurement"} +{"id": "EFO_0803581", "parentIds": ["EFO_0004725"], "name": "N-acetylhomocitrulline measurement"} +{"id": "EFO_0803582", "parentIds": ["EFO_0004725"], "name": "trans-2-hexenoylglycine measurement"} +{"id": "EFO_0803583", "parentIds": ["EFO_0004725"], "name": "C38_5 phosphatidylcholine measurement"} +{"id": "EFO_0803584", "parentIds": ["EFO_0010118"], "name": "euricoyl sphingomyelin measurement"} +{"id": "EFO_0803585", "parentIds": ["EFO_0004725"], "name": "C18:3 cholesterol ester measurement"} +{"id": "EFO_0803586", "parentIds": ["EFO_0004725"], "name": "C36:4 phosphatidylcholine-A measurement"} +{"id": "EFO_0803587", "parentIds": ["EFO_0004725"], "name": "C38:2 phosphatidylcholine measurement"} +{"id": "EFO_0803588", "parentIds": ["EFO_0004725"], "name": "C38:4 phosphatidylcholine plasmalogen measurement"} +{"id": "EFO_0803589", "parentIds": ["EFO_0010118"], "name": "sphingomyelin (d18:0/18:0, d19:0/17:0) measurement"} +{"id": "EFO_0803590", "parentIds": ["EFO_0004725"], "name": "ceramide (d18:2/24:1, d18:1/24:2) measurement"} +{"id": "EFO_0803591", "parentIds": ["EFO_0004725"], "name": "1-eicosapentaenoylglycerophosphocholine (20:5n3) measurement"} +{"id": "EFO_0803592", "parentIds": ["EFO_0004725"], "name": "leucylglutamine measurement"} +{"id": "EFO_0803593", "parentIds": ["EFO_0007034"], "name": "bacteria seropositivity"} +{"id": "EFO_0803594", "parentIds": ["EFO_0007034"], "name": "protozoan seropositivity"} +{"id": "EFO_0803595", "parentIds": ["EFO_0007034"], "name": "virus seropositivity"} +{"id": "EFO_0803596", "parentIds": ["EFO_0803595"], "name": "phage seropositivity"} +{"id": "EFO_0803597", "parentIds": ["EFO_0007034"], "name": "animal allergen seropositivity"} +{"id": "EFO_0803598", "parentIds": ["EFO_0007034"], "name": "fungus seropositivity"} +{"id": "EFO_0803599", "parentIds": ["EFO_0007034"], "name": "plant allergen seropositivity"} +{"id": "EFO_0803600", "parentIds": ["EFO_0803593"], "name": "akkermansia seropositivity"} +{"id": "EFO_0803601", "parentIds": ["EFO_0803593"], "name": "alistipes seropositivity"} +{"id": "EFO_0803602", "parentIds": ["EFO_0803593"], "name": "aspergillus seropositivity"} +{"id": "EFO_0803603", "parentIds": ["EFO_0803593"], "name": "bacillaceae seropositivity"} +{"id": "EFO_0803604", "parentIds": ["EFO_0803593"], "name": "bacilli seropositivity"} +{"id": "EFO_0803605", "parentIds": ["EFO_0803593"], "name": "bacillus seropositivity"} +{"id": "EFO_0803606", "parentIds": ["EFO_0803593"], "name": "bacteroidaceae seropositivity"} +{"id": "EFO_0803607", "parentIds": ["EFO_0803593"], "name": "bacteroidales seropositivity"} +{"id": "EFO_0803608", "parentIds": ["EFO_0803593"], "name": "bacteroides seropositivity"} +{"id": "EFO_0803609", "parentIds": ["EFO_0803593"], "name": "barnesiella seropositivity"} +{"id": "EFO_0803610", "parentIds": ["EFO_0803593"], "name": "bartonella seropositivity"} +{"id": "EFO_0803611", "parentIds": ["EFO_0803593"], "name": "bifidobacterium seropositivity"} +{"id": "EFO_0803612", "parentIds": ["EFO_0803593"], "name": "blautia seropositivity"} +{"id": "EFO_0803613", "parentIds": ["EFO_0803593"], "name": "bordetella seropositivity"} +{"id": "EFO_0803614", "parentIds": ["EFO_0803593"], "name": "butyrivibrio seropositivity"} +{"id": "EFO_0803615", "parentIds": ["EFO_0803593"], "name": "campylobacter seropositivity"} +{"id": "EFO_0803616", "parentIds": ["EFO_0803593"], "name": "clostridiales seropositivity"} +{"id": "EFO_0803617", "parentIds": ["EFO_0803593"], "name": "coprococcus seropositivity"} +{"id": "EFO_0803618", "parentIds": ["EFO_0803593"], "name": "dorea seropositivity"} +{"id": "EFO_0803619", "parentIds": ["EFO_0803593"], "name": "enterobacteriaceae seropositivity"} +{"id": "EFO_0803620", "parentIds": ["EFO_0803593"], "name": "enterococcus faecalis seropositivity"} +{"id": "EFO_0803621", "parentIds": ["EFO_0803593"], "name": "escherichia seropositivity"} +{"id": "EFO_0803622", "parentIds": ["EFO_0803593"], "name": "eubacterium seropositivity"} +{"id": "EFO_0803623", "parentIds": ["EFO_0803593"], "name": "faecalibacterium seropositivity"} +{"id": "EFO_0803624", "parentIds": ["EFO_0803593"], "name": "fibronectin seropositivity"} +{"id": "EFO_0803625", "parentIds": ["EFO_0803593"], "name": "firmicutes seropositivity"} +{"id": "EFO_0803626", "parentIds": ["EFO_0803593"], "name": "flagellin seropositivity"} +{"id": "EFO_0803627", "parentIds": ["EFO_0803593"], "name": "gammaproteobacteria seropositivity"} +{"id": "EFO_0803628", "parentIds": ["EFO_0803593"], "name": "haemophilus influenzae seropositivity"} +{"id": "EFO_0803629", "parentIds": ["EFO_0803593"], "name": "haemophilus parainfluenzae seropositivity"} +{"id": "EFO_0803630", "parentIds": ["EFO_0803593"], "name": "lachnospiraceae seropositivity"} +{"id": "EFO_0803631", "parentIds": ["EFO_0803593"], "name": "lactobacillales seropositivity"} +{"id": "EFO_0803632", "parentIds": ["EFO_0803593"], "name": "lactobacillus seropositivity"} +{"id": "EFO_0803633", "parentIds": ["EFO_0803593"], "name": "legionella seropositivity"} +{"id": "EFO_0803634", "parentIds": ["EFO_0803593"], "name": "listeria seropositivity"} +{"id": "EFO_0803635", "parentIds": ["EFO_0803593"], "name": "mycobacterium tuberculosis seropositivity"} +{"id": "EFO_0803636", "parentIds": ["EFO_0803593"], "name": "mycoplasma pneumoniae seropositivity"} +{"id": "EFO_0803637", "parentIds": ["EFO_0803593"], "name": "neisseria meningitidis seropositivity"} +{"id": "EFO_0803638", "parentIds": ["EFO_0803593"], "name": "odoribacter seropositivity"} +{"id": "EFO_0803639", "parentIds": ["EFO_0803593"], "name": "parabacteroides seropositivity"} +{"id": "EFO_0803640", "parentIds": ["EFO_0803593"], "name": "pneumoviridae seropositivity"} +{"id": "EFO_0803641", "parentIds": ["EFO_0803593"], "name": "porphyromonas gingivalis seropositivity"} +{"id": "EFO_0803642", "parentIds": ["EFO_0803593"], "name": "prevotella seropositivity"} +{"id": "EFO_0803643", "parentIds": ["EFO_0803593"], "name": "proteobacteria seropositivity"} +{"id": "EFO_0803644", "parentIds": ["EFO_0803593"], "name": "pseudomonadaceae seropositivity"} +{"id": "EFO_0803645", "parentIds": ["EFO_0803593"], "name": "ralstonia solanacearum seropositivity"} +{"id": "EFO_0803646", "parentIds": ["EFO_0803593"], "name": "roseburia seropositivity"} +{"id": "EFO_0803647", "parentIds": ["EFO_0803593"], "name": "ruminococcaceae seropositivity"} +{"id": "EFO_0803648", "parentIds": ["EFO_0803593"], "name": "salmonella seropositivity"} +{"id": "EFO_0803649", "parentIds": ["EFO_0803593"], "name": "shigella seropositivity"} +{"id": "EFO_0803650", "parentIds": ["EFO_0803593"], "name": "staphylococcus seropositivity"} +{"id": "EFO_0803651", "parentIds": ["EFO_0803593"], "name": "streptococcus seropositivity"} +{"id": "EFO_0803652", "parentIds": ["EFO_0803593"], "name": "xanthomonas seropositivity"} +{"id": "EFO_0803653", "parentIds": ["EFO_0803593"], "name": "yersinia seropositivity"} +{"id": "EFO_0803654", "parentIds": ["EFO_0803596"], "name": "bacillus phage virus seropositivity"} +{"id": "EFO_0803655", "parentIds": ["EFO_0803596"], "name": "bacteriodes phage virus seropositivity"} +{"id": "EFO_0803656", "parentIds": ["EFO_0803596"], "name": "campylobacter phage virus seropositivity"} +{"id": "EFO_0803657", "parentIds": ["EFO_0803596"], "name": "clostridium phage virus seropositivity"} +{"id": "EFO_0803658", "parentIds": ["EFO_0803596"], "name": "enterobacter phage virus seropositivity"} +{"id": "EFO_0803659", "parentIds": ["EFO_0803596"], "name": "enterococcus phage virus seropositivity"} +{"id": "EFO_0803660", "parentIds": ["EFO_0803596"], "name": "escherichia phage virus seropositivity"} +{"id": "EFO_0803661", "parentIds": ["EFO_0803596"], "name": "geobacillus phage virus seropositivity"} +{"id": "EFO_0803662", "parentIds": ["EFO_0803596"], "name": "klebsiella phage virus seropositivity"} +{"id": "EFO_0803663", "parentIds": ["EFO_0803596"], "name": "lactobacillus phage virus seropositivity"} +{"id": "EFO_0803664", "parentIds": ["EFO_0803596"], "name": "lactococcus phage virus seropositivity"} +{"id": "EFO_0803665", "parentIds": ["EFO_0803596"], "name": "listeria phage virus seropositivity"} +{"id": "EFO_0803666", "parentIds": ["EFO_0803596"], "name": "pelagibacter phage virus seropositivity"} +{"id": "EFO_0803667", "parentIds": ["EFO_0803596"], "name": "proteus phage virus seropositivity"} +{"id": "EFO_0803668", "parentIds": ["EFO_0803596"], "name": "pseudomonas phage virus seropositivity"} +{"id": "EFO_0803669", "parentIds": ["EFO_0803596"], "name": "salmonella phage virus seropositivity"} +{"id": "EFO_0803670", "parentIds": ["EFO_0803596"], "name": "shigella phage virus seropositivity"} +{"id": "EFO_0803671", "parentIds": ["EFO_0803596"], "name": "staphylococcus phage virus seropositivity"} +{"id": "EFO_0803672", "parentIds": ["EFO_0803596"], "name": "streptococcus virus phage virus seropositivity"} +{"id": "EFO_0803673", "parentIds": ["EFO_0803594"], "name": "plasmodium falciparum seropositivity"} +{"id": "EFO_0803674", "parentIds": ["EFO_0803595"], "name": "adenoviridae virus seropositivity"} +{"id": "EFO_0803675", "parentIds": ["EFO_0803595"], "name": "alphapapillomavirus 9 virus seropositivity"} +{"id": "EFO_0803676", "parentIds": ["EFO_0803595"], "name": "calicivirus seropositivity"} +{"id": "EFO_0803677", "parentIds": ["EFO_0803595"], "name": "chikungunya virus seropositivity"} +{"id": "EFO_0803678", "parentIds": ["EFO_0803595"], "name": "coxsackievirus seropositivity"} +{"id": "EFO_0803679", "parentIds": ["EFO_0803595"], "name": "dengue virus seropositivity"} +{"id": "EFO_0803680", "parentIds": ["EFO_0803595"], "name": "foot-and-mouth disease virus seropositivity"} +{"id": "EFO_0803681", "parentIds": ["EFO_0803595"], "name": "hepatitis A virus seropositivity"} +{"id": "EFO_0803682", "parentIds": ["EFO_0803595"], "name": "hepatitis C virus seropositivity"} +{"id": "EFO_0803683", "parentIds": ["EFO_0803595"], "name": "hepatitis E virus seropositivity"} +{"id": "EFO_0803684", "parentIds": ["EFO_0803595"], "name": "influenza B seropositivity"} +{"id": "EFO_0803685", "parentIds": ["EFO_0803595"], "name": "pneumoviridae virus seropositivity"} +{"id": "EFO_0803686", "parentIds": ["EFO_0803595"], "name": "poliovirus seropositivity"} +{"id": "EFO_0803687", "parentIds": ["EFO_0803595"], "name": "respiratory syncytial virus seropositivity"} +{"id": "EFO_0803688", "parentIds": ["EFO_0803595"], "name": "SARS coronavirus seropositivity"} {"id": "EFO_1000003", "parentIds": ["HP_0008277"], "name": "Zinc deficiency"} -{"id": "EFO_1000012", "parentIds": ["MONDO_0800091", "MONDO_0018954"], "name": "Rienhoff syndrome"} +{"id": "EFO_1000012", "parentIds": ["EFO_0002461", "MONDO_0018954"], "name": "Rienhoff syndrome"} {"id": "EFO_1000013", "parentIds": ["EFO_0004225"], "name": "Prinzmetal's angina"} {"id": "EFO_1000014", "parentIds": ["MONDO_0041261", "EFO_0010283"], "name": "acidosis"} -{"id": "EFO_1000015", "parentIds": ["MONDO_0001422", "EFO_0003104"], "name": "aldosterone-producing adenoma"} +{"id": "EFO_1000015", "parentIds": ["EFO_0003104", "MONDO_0001422"], "name": "aldosterone-producing adenoma"} {"id": "EFO_1000016", "parentIds": ["EFO_0003060"], "name": "anaplastic lung carcinoma"} {"id": "EFO_1000017", "parentIds": ["MONDO_0000429"], "name": "autosomal recessive disease"} {"id": "EFO_1000018", "parentIds": ["EFO_0009690"], "name": "bladder disease"} {"id": "EFO_1000019", "parentIds": ["MONDO_0002490", "EFO_0001376"], "name": "breast synovial sarcoma"} {"id": "EFO_1000020", "parentIds": ["EFO_1000021", "EFO_1001949"], "name": "cecum adenocarcinoma"} -{"id": "EFO_1000021", "parentIds": ["EFO_1001950", "MONDO_0002033"], "name": "cecum carcinoma"} +{"id": "EFO_1000021", "parentIds": ["MONDO_0002033", "EFO_1001950"], "name": "cecum carcinoma"} {"id": "EFO_1000023", "parentIds": ["EFO_1000025"], "name": "chronic cystitis"} {"id": "EFO_1000024", "parentIds": ["EFO_0007486"], "name": "chronic rhinosinusitis"} {"id": "EFO_1000025", "parentIds": ["EFO_1000018"], "name": "cystitis"} @@ -21472,7 +24432,7 @@ {"id": "EFO_1000035", "parentIds": ["EFO_0003872", "MONDO_0043424"], "name": "infectious colitis"} {"id": "EFO_1000036", "parentIds": ["EFO_0000589"], "name": "lactic acidosis"} {"id": "EFO_1000037", "parentIds": ["EFO_0005220", "EFO_0004243"], "name": "lung carcinoid tumor"} -{"id": "EFO_1000039", "parentIds": ["MONDO_0000271", "EFO_1000831", "EFO_0007199"], "name": "meningeal tuberculosis"} +{"id": "EFO_1000039", "parentIds": ["MONDO_0000271", "EFO_1000831", "EFO_1000158", "EFO_0007199"], "name": "meningeal tuberculosis"} {"id": "EFO_1000040", "parentIds": ["EFO_1000307"], "name": "metaplastic breast carcinoma"} {"id": "EFO_1000041", "parentIds": ["MONDO_0002286", "EFO_0000537"], "name": "nephrosclerosis"} {"id": "EFO_1000042", "parentIds": ["MONDO_0000548", "EFO_0000348", "EFO_0006460"], "name": "ovarian clear cell adenocarcinoma"} @@ -21488,9 +24448,9 @@ {"id": "EFO_1000052", "parentIds": ["EFO_1000051"], "name": "sex cord-stromal tumor"} {"id": "EFO_1000053", "parentIds": ["EFO_1000040", "EFO_0000707"], "name": "squamous cell breast carcinoma"} {"id": "EFO_1000054", "parentIds": ["MONDO_0002586", "MONDO_0004021"], "name": "thymic lymphoma"} -{"id": "EFO_1000055", "parentIds": ["EFO_0003871"], "name": "tongue squamous cell carcinoma"} +{"id": "EFO_1000055", "parentIds": ["EFO_0000199", "MONDO_0004631"], "name": "tongue squamous cell carcinoma"} {"id": "EFO_1000057", "parentIds": ["EFO_0000181", "MONDO_0003212"], "name": "nasal cavity squamous cell carcinoma"} -{"id": "EFO_1000058", "parentIds": ["EFO_0000181", "EFO_0000684"], "name": "nasopharyngeal squamous cell carcinoma"} +{"id": "EFO_1000058", "parentIds": ["EFO_0010282", "EFO_0000181", "MONDO_0000376"], "name": "nasopharyngeal squamous cell carcinoma"} {"id": "EFO_1000059", "parentIds": ["MONDO_0000473"], "name": "cervical artery dissection"} {"id": "EFO_1000060", "parentIds": ["MONDO_0037792", "EFO_0009554"], "name": "intestinal disaccharide deficiency and disaccharide malabsorption"} {"id": "EFO_1000062", "parentIds": ["EFO_0009554", "MONDO_0019214", "EFO_0001069"], "name": "lactose intolerance"} @@ -21508,14 +24468,14 @@ {"id": "EFO_1000074", "parentIds": ["MONDO_0021511"], "name": "Adrenal Gland Myelolipoma"} {"id": "EFO_1000075", "parentIds": ["MONDO_0003606", "EFO_0007392", "MONDO_0000551"], "name": "Adrenal Gland Neuroblastoma"} {"id": "EFO_1000076", "parentIds": ["EFO_0005539", "EFO_0000536"], "name": "Adrenal Medullary Hyperplasia"} -{"id": "EFO_1000077", "parentIds": ["MONDO_0017341", "EFO_0000574", "EFO_0009386"], "name": "AIDS-Related Primary Central Nervous System Lymphoma"} +{"id": "EFO_1000077", "parentIds": ["EFO_0000574", "EFO_1000157"], "name": "AIDS-Related Primary Central Nervous System Lymphoma"} {"id": "EFO_1000078", "parentIds": ["MONDO_0002415", "EFO_1000218", "MONDO_0021192", "MONDO_0002038"], "name": "Ameloblastic Carcinoma"} {"id": "EFO_1000079", "parentIds": ["MONDO_0000919", "MONDO_0003090", "MONDO_0021335"], "name": "Ampulla of Vater Carcinoma"} -{"id": "EFO_1000080", "parentIds": ["MONDO_0001879", "EFO_1001951", "MONDO_0002167"], "name": "Anal Melanoma"} +{"id": "EFO_1000080", "parentIds": ["MONDO_0001879", "MONDO_0003199", "MONDO_0002167"], "name": "Anal Melanoma"} {"id": "EFO_1000081", "parentIds": ["MONDO_0003199", "MONDO_0018515"], "name": "Anal Squamous Cell Carcinoma"} {"id": "EFO_1000082", "parentIds": ["EFO_0003851"], "name": "Anaplastic (Malignant) Meningioma"} {"id": "EFO_1000083", "parentIds": ["EFO_0003032"], "name": "Anaplastic Large Cell Lymphoma, ALK-Negative"} -{"id": "EFO_1000084", "parentIds": ["EFO_0010285", "MONDO_0003342"], "name": "Angioleiomyoma"} +{"id": "EFO_1000084", "parentIds": ["MONDO_0000652", "MONDO_0003342"], "name": "Angioleiomyoma"} {"id": "EFO_1000085", "parentIds": ["EFO_0000759"], "name": "Angiolipoma"} {"id": "EFO_1000086", "parentIds": ["EFO_0003851"], "name": "Angiomatous Meningioma"} {"id": "EFO_1000087", "parentIds": ["MONDO_0021581", "MONDO_0044335"], "name": "Angiomyxoma"} @@ -21531,10 +24491,10 @@ {"id": "EFO_1000097", "parentIds": ["EFO_0004243"], "name": "Atypical Carcinoid Tumor"} {"id": "EFO_1000098", "parentIds": ["EFO_0000536", "MONDO_0000931"], "name": "Atypical Endometrial Hyperplasia"} {"id": "EFO_1000099", "parentIds": ["MONDO_0021354"], "name": "Atypical Lipomatous Tumor"} -{"id": "EFO_1000100", "parentIds": ["MONDO_0002486", "MONDO_0000653", "EFO_0000536"], "name": "Atypical Lobular Breast Hyperplasia"} +{"id": "EFO_1000100", "parentIds": ["MONDO_0002486", "EFO_0000536"], "name": "Atypical Lobular Breast Hyperplasia"} {"id": "EFO_1000101", "parentIds": ["EFO_0003851"], "name": "Atypical Meningioma"} -{"id": "EFO_1000102", "parentIds": ["MONDO_0017595", "MONDO_0001023", "EFO_0000096"], "name": "B-Cell Prolymphocytic Leukemia"} -{"id": "EFO_1000103", "parentIds": ["MONDO_0000653", "EFO_0002921", "MONDO_0021114"], "name": "Bartholin Gland Carcinoma"} +{"id": "EFO_1000102", "parentIds": ["MONDO_0001023", "EFO_0000096", "MONDO_0017595"], "name": "B-Cell Prolymphocytic Leukemia"} +{"id": "EFO_1000103", "parentIds": ["MONDO_0000653", "MONDO_0021114", "EFO_0002921"], "name": "Bartholin Gland Carcinoma"} {"id": "EFO_1000104", "parentIds": ["EFO_1000624", "EFO_1000103"], "name": "Bartholin Gland Squamous Cell Carcinoma"} {"id": "EFO_1000105", "parentIds": ["EFO_0000313"], "name": "Basaloid Carcinoma"} {"id": "EFO_1000106", "parentIds": ["EFO_0000239", "MONDO_0036976", "MONDO_0056804", "MONDO_0021468"], "name": "Benign Adrenal Gland Pheochromocytoma"} @@ -21559,9 +24519,9 @@ {"id": "EFO_1000125", "parentIds": ["MONDO_0004986", "EFO_0000228"], "name": "Bladder Adenocarcinoma"} {"id": "EFO_1000126", "parentIds": ["EFO_0000294"], "name": "Bladder Flat Intraepithelial Lesion"} {"id": "EFO_1000127", "parentIds": ["EFO_0000294", "MONDO_0015798"], "name": "Bladder Inflammatory Myofibroblastic Tumor"} -{"id": "EFO_1000128", "parentIds": ["EFO_0000489"], "name": "Bladder Paraganglioma"} +{"id": "EFO_1000128", "parentIds": ["MONDO_0021066", "EFO_0000489"], "name": "Bladder Paraganglioma"} {"id": "EFO_1000129", "parentIds": ["EFO_0008524", "MONDO_0004986"], "name": "Bladder Small Cell Neuroendocrine Carcinoma"} -{"id": "EFO_1000130", "parentIds": ["MONDO_0004986", "EFO_0000707"], "name": "Bladder Squamous Cell Carcinoma"} +{"id": "EFO_1000130", "parentIds": ["EFO_0000707", "MONDO_0004986"], "name": "Bladder Squamous Cell Carcinoma"} {"id": "EFO_1000131", "parentIds": ["EFO_0000339"], "name": "Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive"} {"id": "EFO_1000132", "parentIds": ["EFO_0003820"], "name": "Bone Epithelioid Hemangioma"} {"id": "EFO_1000133", "parentIds": ["EFO_0003860"], "name": "Borderline Exocrine Pancreatic Neoplasm"} @@ -21575,9 +24535,9 @@ {"id": "EFO_1000141", "parentIds": ["EFO_0006545"], "name": "Brain Stem Glioblastoma"} {"id": "EFO_1000142", "parentIds": ["MONDO_0002912", "MONDO_0005499"], "name": "Brain Stem Glioma"} {"id": "EFO_1000143", "parentIds": ["EFO_0000305"], "name": "Breast Carcinoma by Gene Expression Profile"} -{"id": "EFO_1000144", "parentIds": ["MONDO_0000653", "MONDO_0000621", "MONDO_0003661", "EFO_0000403"], "name": "Breast Diffuse Large B-Cell Lymphoma"} +{"id": "EFO_1000144", "parentIds": ["MONDO_0000612", "MONDO_0003661", "EFO_0000403"], "name": "Breast Diffuse Large B-Cell Lymphoma"} {"id": "EFO_1000145", "parentIds": ["MONDO_0003724", "EFO_0003869", "EFO_0006890"], "name": "breast fibrosis"} -{"id": "EFO_1000146", "parentIds": ["MONDO_0000653", "EFO_0009483", "EFO_0000191"], "name": "Breast Mucosa-Associated Lymphoid Tissue Lymphoma"} +{"id": "EFO_1000146", "parentIds": ["MONDO_0003661", "EFO_0000191"], "name": "Breast Mucosa-Associated Lymphoid Tissue Lymphoma"} {"id": "EFO_1000147", "parentIds": ["EFO_0000536", "EFO_1000627"], "name": "C-Cell Hyperplasia"} {"id": "EFO_1000148", "parentIds": ["EFO_0002422"], "name": "Calcifying Fibrous Tumor"} {"id": "EFO_1000149", "parentIds": ["MONDO_0002691"], "name": "Calcifying Nested Epithelial Stromal Tumor of the Liver"} @@ -21587,12 +24547,12 @@ {"id": "EFO_1000154", "parentIds": ["EFO_0009255", "EFO_1000188"], "name": "Cecum Neuroendocrine Tumor G1"} {"id": "EFO_1000155", "parentIds": ["MONDO_0021271", "EFO_0009255"], "name": "Cecum Villous Adenoma"} {"id": "EFO_1000156", "parentIds": ["MONDO_0044887", "MONDO_0020633", "EFO_0003032"], "name": "Central Nervous System Anaplastic Large Cell Lymphoma"} -{"id": "EFO_1000157", "parentIds": ["MONDO_0003641", "EFO_0000326", "MONDO_0000621", "EFO_0000096", "MONDO_0017343", "MONDO_0017207"], "name": "Central Nervous System Lymphoma"} +{"id": "EFO_1000157", "parentIds": ["EFO_0000326", "EFO_1001456", "MONDO_0000621", "EFO_0000096", "MONDO_0017343", "MONDO_0017207", "MONDO_0003641"], "name": "Central Nervous System Lymphoma"} {"id": "EFO_1000158", "parentIds": ["EFO_0009386", "MONDO_0021248"], "name": "Central Nervous System Neoplasm"} -{"id": "EFO_1000159", "parentIds": ["MONDO_0002913", "MONDO_0016726"], "name": "Cerebellar Liponeurocytoma"} -{"id": "EFO_1000160", "parentIds": ["EFO_0001061"], "name": "Cervical Adenoid Basal Carcinoma"} -{"id": "EFO_1000161", "parentIds": ["EFO_0001416", "EFO_0000231"], "name": "Cervical Adenoid Cystic Carcinoma"} -{"id": "EFO_1000162", "parentIds": ["EFO_0001416", "EFO_1000073", "EFO_1000172"], "name": "Cervical Adenosquamous Carcinoma"} +{"id": "EFO_1000159", "parentIds": ["MONDO_0002913"], "name": "Cerebellar Liponeurocytoma"} +{"id": "EFO_1000160", "parentIds": ["EFO_1000172", "MONDO_0002951"], "name": "Cervical Adenoid Basal Carcinoma"} +{"id": "EFO_1000161", "parentIds": ["EFO_0000231", "EFO_0001416"], "name": "Cervical Adenoid Cystic Carcinoma"} +{"id": "EFO_1000162", "parentIds": ["EFO_1000073", "EFO_0001416", "EFO_1000172"], "name": "Cervical Adenosquamous Carcinoma"} {"id": "EFO_1000163", "parentIds": ["EFO_0000348", "EFO_0001416"], "name": "Cervical Clear Cell Adenocarcinoma"} {"id": "EFO_1000164", "parentIds": ["EFO_0001416", "EFO_0000466"], "name": "Cervical Endometrioid Adenocarcinoma"} {"id": "EFO_1000165", "parentIds": ["EFO_0003859"], "name": "Cervical Glandular Intraepithelial Neoplasia"} @@ -21603,16 +24563,16 @@ {"id": "EFO_1000170", "parentIds": ["MONDO_0003204", "MONDO_0002742"], "name": "Cervical Mucinous Adenocarcinoma, Villoglandular Variant"} {"id": "EFO_1000171", "parentIds": ["EFO_0001061", "EFO_0008524"], "name": "Cervical Small Cell Carcinoma"} {"id": "EFO_1000172", "parentIds": ["EFO_0001061", "EFO_0000707"], "name": "cervical squamous cell carcinoma"} -{"id": "EFO_1000173", "parentIds": ["Orphanet_654", "MONDO_0006058", "MONDO_0002974", "MONDO_0003321"], "name": "Cervical Wilms Tumor"} -{"id": "EFO_1000174", "parentIds": ["MONDO_0008978", "MONDO_0023603", "Orphanet_183527", "EFO_0009488"], "name": "Chondroid Chordoma"} +{"id": "EFO_1000173", "parentIds": ["Orphanet_654", "MONDO_0006058", "MONDO_0002974"], "name": "Cervical Wilms Tumor"} +{"id": "EFO_1000174", "parentIds": ["MONDO_0008978", "EFO_0003828", "Orphanet_183527"], "name": "Chondroid Chordoma"} {"id": "EFO_1000175", "parentIds": ["EFO_1000634"], "name": "Chondroid Hamartoma"} {"id": "EFO_1000176", "parentIds": ["EFO_0003851"], "name": "Chordoid Meningioma"} {"id": "EFO_1000177", "parentIds": ["EFO_0003833"], "name": "Choroid Plexus Papilloma"} {"id": "EFO_1000178", "parentIds": ["EFO_0004251", "EFO_0000565"], "name": "Chronic Eosinophilic Leukemia, Not Otherwise Specified"} -{"id": "EFO_1000179", "parentIds": ["MONDO_0023603", "EFO_0002428", "MONDO_0001014", "EFO_0004251"], "name": "Chronic Neutrophilic Leukemia"} +{"id": "EFO_1000179", "parentIds": ["EFO_0002428", "MONDO_0001014", "EFO_0004251"], "name": "Chronic Neutrophilic Leukemia"} {"id": "EFO_1000180", "parentIds": ["EFO_0003851"], "name": "Clear Cell Meningioma"} {"id": "EFO_1000181", "parentIds": ["MONDO_0021091"], "name": "Clear Cell Papillary Cystadenoma"} -{"id": "EFO_1000182", "parentIds": ["MONDO_0000621", "MONDO_0002035", "Orphanet_271835", "EFO_0000309"], "name": "Colon Burkitt Lymphoma"} +{"id": "EFO_1000182", "parentIds": ["MONDO_0023113", "MONDO_0043424", "MONDO_0002035", "MONDO_0000612", "Orphanet_271835", "EFO_0000309"], "name": "Colon Burkitt Lymphoma"} {"id": "EFO_1000183", "parentIds": ["MONDO_0003409"], "name": "Colon Dysplasia"} {"id": "EFO_1000184", "parentIds": ["EFO_0004288", "MONDO_0021400"], "name": "Colon Inflammatory Polyp"} {"id": "EFO_1000185", "parentIds": ["EFO_1000194", "MONDO_0021400", "EFO_0004288"], "name": "Colon Juvenile Polyp"} @@ -21620,7 +24580,7 @@ {"id": "EFO_1000188", "parentIds": ["EFO_1000195", "MONDO_0015067"], "name": "Colon Neuroendocrine Tumor G1"} {"id": "EFO_1000189", "parentIds": ["EFO_1000197", "MONDO_0000527", "MONDO_0021400"], "name": "Colon Sessile Serrated Adenoma/Polyp"} {"id": "EFO_1000190", "parentIds": ["EFO_1000198", "EFO_1000073"], "name": "Colorectal Adenosquamous Carcinoma"} -{"id": "EFO_1000191", "parentIds": ["MONDO_0024656", "EFO_0000403", "MONDO_0000621"], "name": "Colorectal Diffuse Large B-Cell Lymphoma"} +{"id": "EFO_1000191", "parentIds": ["MONDO_0024656", "EFO_0000403", "MONDO_0000612"], "name": "Colorectal Diffuse Large B-Cell Lymphoma"} {"id": "EFO_1000192", "parentIds": ["EFO_0004142"], "name": "Colorectal Gastrointestinal Stromal Tumor"} {"id": "EFO_1000193", "parentIds": ["EFO_0004142", "MONDO_0021392", "EFO_1000280"], "name": "Colorectal Hamartoma"} {"id": "EFO_1000194", "parentIds": ["EFO_1000310", "EFO_1000193"], "name": "Colorectal Juvenile Polyp"} @@ -21630,15 +24590,15 @@ {"id": "EFO_1000198", "parentIds": ["EFO_1001951", "EFO_0000707"], "name": "Colorectal Squamous Cell Carcinoma"} {"id": "EFO_1000199", "parentIds": ["EFO_0000536", "EFO_0003869"], "name": "Columnar Cell Hyperplasia of the Breast"} {"id": "EFO_1000200", "parentIds": ["MONDO_0002120", "EFO_0005220", "EFO_1000356", "EFO_0001071"], "name": "Combined Lung Carcinoma"} -{"id": "EFO_1000201", "parentIds": ["EFO_0005803", "EFO_0000616"], "name": "Common Hematopoietic Neoplasm"} +{"id": "EFO_1000201", "parentIds": ["MONDO_0002334"], "name": "Common Hematopoietic Neoplasm"} {"id": "EFO_1000202", "parentIds": ["EFO_0000536", "EFO_0009549"], "name": "Complex Endometrial Hyperplasia"} {"id": "EFO_1000203", "parentIds": ["EFO_0009546", "EFO_0003966"], "name": "Conjunctival Disorder"} {"id": "EFO_1000204", "parentIds": ["EFO_1000403", "MONDO_0003454"], "name": "Conjunctival Melanoma"} {"id": "EFO_1000205", "parentIds": ["EFO_1000110", "EFO_0009675"], "name": "Conjunctival Nevus"} -{"id": "EFO_1000206", "parentIds": ["MONDO_0002466", "EFO_0000181", "MONDO_0003454"], "name": "Conjunctival Squamous Cell Carcinoma"} +{"id": "EFO_1000206", "parentIds": ["MONDO_0003454", "MONDO_0002466", "EFO_0000181"], "name": "Conjunctival Squamous Cell Carcinoma"} {"id": "EFO_1000208", "parentIds": ["EFO_0003104"], "name": "Cortisol-Producing Adrenal Cortex Adenoma"} {"id": "EFO_1000209", "parentIds": ["MONDO_0000628", "MONDO_0000631", "MONDO_0023369", "MONDO_0036976", "MONDO_0002720", "MONDO_0002532"], "name": "Craniopharyngioma"} -{"id": "EFO_1000210", "parentIds": ["EFO_0009483", "EFO_0000313"], "name": "Cribriform Carcinoma"} +{"id": "EFO_1000210", "parentIds": ["EFO_0000305", "EFO_0000313"], "name": "Cribriform Carcinoma"} {"id": "EFO_1000211", "parentIds": ["EFO_0004198"], "name": "Cutaneous Follicular Lymphoma"} {"id": "EFO_1000212", "parentIds": ["EFO_1000531", "EFO_1001972"], "name": "Cutaneous Undifferentiated Pleomorphic Sarcoma"} {"id": "EFO_1000213", "parentIds": ["EFO_0003865"], "name": "Cystic Nephroma"} @@ -21648,9 +24608,9 @@ {"id": "EFO_1000217", "parentIds": ["EFO_0008549", "EFO_0000232", "EFO_0010282"], "name": "Digestive System Adenoma"} {"id": "EFO_1000218", "parentIds": ["MONDO_0002516", "EFO_0000313"], "name": "Digestive System Carcinoma"} {"id": "EFO_1000219", "parentIds": ["EFO_1000218"], "name": "Digestive System Mixed Adenoneuroendocrine Carcinoma"} -{"id": "EFO_1000220", "parentIds": ["MONDO_0003295", "MONDO_0015682", "MONDO_0000650"], "name": "Disseminated Peritoneal Leiomyomatosis"} +{"id": "EFO_1000220", "parentIds": ["MONDO_0000650", "MONDO_0003295"], "name": "Disseminated Peritoneal Leiomyomatosis"} {"id": "EFO_1000221", "parentIds": ["MONDO_0004658"], "name": "Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ"} -{"id": "EFO_1000222", "parentIds": ["EFO_0000616", "EFO_0009534"], "name": "Ductal or Ductular Proliferation"} +{"id": "EFO_1000222", "parentIds": ["EFO_0003891"], "name": "Ductal or Ductular Proliferation"} {"id": "EFO_1000223", "parentIds": ["EFO_1000532", "MONDO_0021335"], "name": "Duodenal Adenocarcinoma"} {"id": "EFO_1000224", "parentIds": ["EFO_0003769", "EFO_0010282"], "name": "Duodenal Gastrin-Producing Neuroendocrine Tumor"} {"id": "EFO_1000225", "parentIds": ["MONDO_0021375", "MONDO_0021303", "MONDO_0000502"], "name": "Duodenal Villous Adenoma"} @@ -21665,8 +24625,8 @@ {"id": "EFO_1000234", "parentIds": ["EFO_0009549", "EFO_0000536"], "name": "Endometrial Hyperplasia without Atypia"} {"id": "EFO_1000235", "parentIds": ["EFO_0004230"], "name": "Endometrial Intraepithelial Neoplasia"} {"id": "EFO_1000236", "parentIds": ["EFO_0000197", "EFO_0005232"], "name": "Endometrial Mucinous Adenocarcinoma"} -{"id": "EFO_1000237", "parentIds": ["EFO_0009484", "MONDO_0000931", "EFO_0004230"], "name": "Endometrial Polyp"} -{"id": "EFO_1000238", "parentIds": ["EFO_0003825", "EFO_0009549"], "name": "Endometrial Serous Adenocarcinoma"} +{"id": "EFO_1000237", "parentIds": ["MONDO_0021251", "EFO_0009484", "EFO_0004230"], "name": "Endometrial Polyp"} +{"id": "EFO_1000238", "parentIds": ["EFO_0003825", "MONDO_0002149", "MONDO_0021148"], "name": "Endometrial Serous Adenocarcinoma"} {"id": "EFO_1000239", "parentIds": ["EFO_1001512", "EFO_0008524"], "name": "Endometrial Small Cell Carcinoma"} {"id": "EFO_1000240", "parentIds": ["EFO_0000707", "EFO_1001512"], "name": "Endometrial Squamous Cell Carcinoma"} {"id": "EFO_1000241", "parentIds": ["EFO_0004230"], "name": "Endometrial Stromal Nodule"} @@ -21679,7 +24639,7 @@ {"id": "EFO_1000248", "parentIds": ["MONDO_0003500", "MONDO_0003090"], "name": "Extrahepatic Bile Duct Squamous Cell Carcinoma"} {"id": "EFO_1000249", "parentIds": ["MONDO_0021165"], "name": "Extramammary Paget Disease"} {"id": "EFO_1000250", "parentIds": ["MONDO_0021038"], "name": "Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor"} -{"id": "EFO_1000251", "parentIds": ["MONDO_0002158", "EFO_0000313"], "name": "Fallopian Tube Carcinoma"} +{"id": "EFO_1000251", "parentIds": ["EFO_0000313", "MONDO_0002158"], "name": "Fallopian Tube Carcinoma"} {"id": "EFO_1000252", "parentIds": ["EFO_1000251", "MONDO_0002928"], "name": "Fallopian Tube Carcinosarcoma"} {"id": "EFO_1000253", "parentIds": ["MONDO_0002746", "EFO_0003825"], "name": "Fallopian Tube Serous Adenocarcinoma"} {"id": "EFO_1000254", "parentIds": ["EFO_0003869"], "name": "Fibroadenoma"} @@ -21691,39 +24651,39 @@ {"id": "EFO_1000260", "parentIds": ["MONDO_0044964", "MONDO_0021343"], "name": "Floor of Mouth Mucoepidermoid Carcinoma"} {"id": "EFO_1000261", "parentIds": ["EFO_0001379", "EFO_0000228"], "name": "Follicular Variant Thyroid Gland Papillary Carcinoma"} {"id": "EFO_1000262", "parentIds": ["EFO_0000228", "EFO_1001956"], "name": "Gallbladder Adenocarcinoma"} -{"id": "EFO_1000263", "parentIds": ["EFO_0004606", "MONDO_0700225", "MONDO_0021416", "EFO_1000217", "Orphanet_271835"], "name": "Gallbladder Adenoma"} -{"id": "EFO_1000264", "parentIds": ["EFO_1000073", "EFO_1000267"], "name": "Gallbladder Adenosquamous Carcinoma"} +{"id": "EFO_1000263", "parentIds": ["EFO_0004606", "MONDO_0021416", "EFO_1000217", "Orphanet_271835"], "name": "Gallbladder Adenoma"} +{"id": "EFO_1000264", "parentIds": ["MONDO_0056815", "EFO_1000073", "EFO_1000267"], "name": "Gallbladder Adenosquamous Carcinoma"} {"id": "EFO_1000265", "parentIds": ["EFO_0004606"], "name": "Gallbladder Biliary Intraepithelial Neoplasia"} -{"id": "EFO_1000266", "parentIds": ["Orphanet_271847", "MONDO_0025511", "EFO_1001956", "MONDO_0700225", "EFO_0008524", "MONDO_0024502"], "name": "Gallbladder Small Cell Neuroendocrine Carcinoma"} -{"id": "EFO_1000267", "parentIds": ["EFO_1001956", "EFO_0000707"], "name": "Gallbladder Squamous Cell Carcinoma"} +{"id": "EFO_1000266", "parentIds": ["MONDO_0015072", "EFO_0008524", "Orphanet_271847", "EFO_1001956", "MONDO_0024502"], "name": "Gallbladder Small Cell Neuroendocrine Carcinoma"} +{"id": "EFO_1000267", "parentIds": ["EFO_1001956", "EFO_0000707", "MONDO_0018534"], "name": "Gallbladder Squamous Cell Carcinoma"} {"id": "EFO_1000268", "parentIds": ["MONDO_0008277", "EFO_0003897", "EFO_1000217"], "name": "Gastric Adenoma"} -{"id": "EFO_1000269", "parentIds": ["EFO_0002893", "MONDO_0003578", "MONDO_0003112"], "name": "Gastric Choriocarcinoma"} +{"id": "EFO_1000269", "parentIds": ["MONDO_0002149", "EFO_0002893", "MONDO_0003578", "MONDO_0003112"], "name": "Gastric Choriocarcinoma"} {"id": "EFO_1000270", "parentIds": ["EFO_0010282", "EFO_0000403"], "name": "Gastric Diffuse Large B-Cell Lymphoma"} {"id": "EFO_1000271", "parentIds": ["EFO_1000280", "EFO_0003897"], "name": "Gastric Hamartomatous Polyp"} -{"id": "EFO_1000272", "parentIds": ["MONDO_0000621", "MONDO_0042493", "EFO_1001469"], "name": "Gastric Mantle Cell Lymphoma"} +{"id": "EFO_1000272", "parentIds": ["MONDO_0000612", "MONDO_0042493", "EFO_1001469"], "name": "Gastric Mantle Cell Lymphoma"} {"id": "EFO_1000273", "parentIds": ["EFO_0003897"], "name": "Gastric Metaplasia"} -{"id": "EFO_1000274", "parentIds": ["MONDO_0042493", "EFO_0000191", "Orphanet_271835"], "name": "Gastric Mucosa-Associated Lymphoid Tissue Lymphoma"} -{"id": "EFO_1000275", "parentIds": ["MONDO_0015062", "EFO_0004243"], "name": "Gastric Neuroendocrine Tumor G1"} +{"id": "EFO_1000274", "parentIds": ["MONDO_0018502", "MONDO_0042493", "EFO_0000191", "Orphanet_271835"], "name": "Gastric Mucosa-Associated Lymphoid Tissue Lymphoma"} +{"id": "EFO_1000275", "parentIds": ["EFO_0004243", "MONDO_0015062"], "name": "Gastric Neuroendocrine Tumor G1"} {"id": "EFO_1000276", "parentIds": ["MONDO_0002512", "EFO_0000503"], "name": "Gastric Papillary Adenocarcinoma"} {"id": "EFO_1000277", "parentIds": ["MONDO_0003111", "EFO_0000178", "EFO_0008524"], "name": "Gastric Small Cell Neuroendocrine Carcinoma"} {"id": "EFO_1000278", "parentIds": ["EFO_0000178", "EFO_0000707"], "name": "Gastric Squamous Cell Carcinoma"} {"id": "EFO_1000280", "parentIds": ["MONDO_0024292", "EFO_1000634", "EFO_0008549"], "name": "Gastrointestinal Hamartoma"} {"id": "EFO_1000281", "parentIds": ["MONDO_0002402", "EFO_0000691"], "name": "Giant Cell Tumor of Soft Tissue"} -{"id": "EFO_1000282", "parentIds": ["EFO_0005771", "EFO_0009601", "MONDO_0002601"], "name": "Gonadal Teratoma"} +{"id": "EFO_1000282", "parentIds": ["MONDO_0002601", "EFO_1000566", "EFO_1000419"], "name": "Gonadal Teratoma"} {"id": "EFO_1000283", "parentIds": ["MONDO_0004647", "EFO_0002621", "EFO_0001663"], "name": "Grade III Prostatic Intraepithelial Neoplasia"} {"id": "EFO_1000284", "parentIds": ["MONDO_0002547"], "name": "Granular Cell Tumor"} {"id": "EFO_1000285", "parentIds": ["MONDO_0003257", "EFO_1000284"], "name": "Granular Cell Tumor of the Neurohypophysis"} {"id": "EFO_1000286", "parentIds": ["EFO_1001052"], "name": "Granulocytic Sarcoma"} {"id": "EFO_1000287", "parentIds": ["EFO_1000478", "MONDO_0019927"], "name": "Growth Hormone-Producing Pituitary Gland Adenoma"} {"id": "EFO_1000288", "parentIds": ["EFO_1000453", "EFO_0005950"], "name": "Head and Neck Paraganglioma"} -{"id": "EFO_1000289", "parentIds": ["EFO_0004264", "MONDO_0002604"], "name": "Hemangiopericytic Neoplasm"} +{"id": "EFO_1000289", "parentIds": ["EFO_0004264", "MONDO_0024296", "MONDO_0002604"], "name": "Hemangiopericytic Neoplasm"} {"id": "EFO_1000291", "parentIds": ["MONDO_0024477"], "name": "Hepatic Granuloma"} {"id": "EFO_1000292", "parentIds": ["EFO_0005784", "EFO_0000182"], "name": "Hepatoblastoma"} -{"id": "EFO_1000293", "parentIds": ["MONDO_0018532"], "name": "Hepatoid Adenocarcinoma"} +{"id": "EFO_1000293", "parentIds": ["MONDO_0018531", "EFO_0000228"], "name": "Hepatoid Adenocarcinoma"} {"id": "EFO_1000294", "parentIds": ["EFO_1000143"], "name": "HER2 Positive Breast Carcinoma"} {"id": "EFO_1000295", "parentIds": ["EFO_0005591", "EFO_0000348"], "name": "Hidradenocarcinoma"} {"id": "EFO_1000296", "parentIds": ["MONDO_0002628"], "name": "High Grade Surface Osteosarcoma"} -{"id": "EFO_1000297", "parentIds": ["Orphanet_322126", "EFO_0010283", "EFO_0000540", "MONDO_0044881", "MONDO_0015757"], "name": "Histiocytic and Dendritic Cell Neoplasm"} +{"id": "EFO_1000297", "parentIds": ["Orphanet_322126", "EFO_0000540", "MONDO_0015757", "MONDO_0044881", "EFO_0010283"], "name": "Histiocytic and Dendritic Cell Neoplasm"} {"id": "EFO_1000298", "parentIds": ["EFO_0000508", "MONDO_0021218", "MONDO_0002872"], "name": "Hydatidiform Mole"} {"id": "EFO_1000299", "parentIds": ["EFO_0000662", "EFO_0010282"], "name": "Hyperplastic Polyp"} {"id": "EFO_1000300", "parentIds": ["MONDO_0015065", "MONDO_0000540", "EFO_1000188"], "name": "Ileal Neuroendocrine Tumor G1"} @@ -21735,23 +24695,23 @@ {"id": "EFO_1000306", "parentIds": ["EFO_0003869"], "name": "Intraductal Breast Papilloma"} {"id": "EFO_1000307", "parentIds": ["MONDO_0040677", "EFO_0000305"], "name": "Invasive Breast Carcinoma"} {"id": "EFO_1000308", "parentIds": ["MONDO_0015064", "MONDO_0000540", "EFO_1000188"], "name": "Jejunal Neuroendocrine Tumor G1"} -{"id": "EFO_1000309", "parentIds": ["EFO_1001779"], "name": "Juvenile Myelomonocytic Leukemia"} +{"id": "EFO_1000309", "parentIds": ["EFO_1001779", "MONDO_0023603"], "name": "Juvenile Myelomonocytic Leukemia"} {"id": "EFO_1000310", "parentIds": ["EFO_1000280"], "name": "Juvenile Polyp"} {"id": "EFO_1000311", "parentIds": ["MONDO_0015531"], "name": "Juvenile Xanthogranuloma"} {"id": "EFO_1000312", "parentIds": ["EFO_0003865"], "name": "Kidney Angiomyolipoma"} {"id": "EFO_1000313", "parentIds": ["EFO_0003865"], "name": "Kidney Cyst"} {"id": "EFO_1000314", "parentIds": ["EFO_0000681"], "name": "Kidney Medullary Carcinoma"} {"id": "EFO_1000315", "parentIds": ["EFO_0003865"], "name": "Kidney Oncocytoma"} -{"id": "EFO_1000316", "parentIds": ["EFO_0000698", "EFO_0006460", "MONDO_0024879"], "name": "Krukenberg Tumor"} +{"id": "EFO_1000316", "parentIds": ["MONDO_0024879", "EFO_0006460", "EFO_0000698"], "name": "Krukenberg Tumor"} {"id": "EFO_1000317", "parentIds": ["MONDO_0002475", "EFO_0000231"], "name": "Lacrimal Gland Adenoid Cystic Carcinoma"} {"id": "EFO_1000318", "parentIds": ["MONDO_0004805", "EFO_0007352", "MONDO_0020082"], "name": "Langerhans Cell Histiocytosis"} {"id": "EFO_1000319", "parentIds": ["MONDO_0002358", "EFO_0000231"], "name": "Laryngeal Adenoid Cystic Carcinoma"} {"id": "EFO_1000320", "parentIds": ["MONDO_0002358", "MONDO_0002038", "MONDO_0015070", "EFO_0008524"], "name": "Laryngeal Small Cell Carcinoma"} {"id": "EFO_1000321", "parentIds": ["EFO_0001379", "EFO_1000052"], "name": "Leydig Cell Tumor"} {"id": "EFO_1000322", "parentIds": ["EFO_1001513"], "name": "Liver Cavernous Hemangioma"} -{"id": "EFO_1000323", "parentIds": ["MONDO_0004695", "MONDO_0000621", "EFO_0000182", "EFO_0000403"], "name": "Liver Diffuse Large B-Cell Lymphoma"} +{"id": "EFO_1000323", "parentIds": ["MONDO_0004695", "EFO_0000182", "EFO_0000403", "MONDO_0000612"], "name": "Liver Diffuse Large B-Cell Lymphoma"} {"id": "EFO_1000324", "parentIds": ["EFO_1001513"], "name": "Liver Inflammatory Myofibroblastic Tumor"} -{"id": "EFO_1000325", "parentIds": ["EFO_0001421", "EFO_0003769"], "name": "Liver Neuroendocrine Tumor"} +{"id": "EFO_1000325", "parentIds": ["MONDO_0024477"], "name": "Liver Neuroendocrine Tumor"} {"id": "EFO_1000326", "parentIds": ["MONDO_0002486", "MONDO_0003218", "EFO_0000304"], "name": "Lobular Breast Carcinoma In Situ"} {"id": "EFO_1000327", "parentIds": ["EFO_0000637"], "name": "Low Grade Central Osteosarcoma"} {"id": "EFO_1000328", "parentIds": ["EFO_0002087"], "name": "Low Grade Fibromyxoid Sarcoma"} @@ -21759,26 +24719,26 @@ {"id": "EFO_1000330", "parentIds": ["EFO_0002627"], "name": "Low Grade Vulvar Intraepithelial Neoplasia"} {"id": "EFO_1000332", "parentIds": ["EFO_1000336"], "name": "Lung Giant Cell Carcinoma"} {"id": "EFO_1000333", "parentIds": ["EFO_0001071", "MONDO_0015798"], "name": "Lung Inflammatory Myofibroblastic Tumor"} -{"id": "EFO_1000334", "parentIds": ["MONDO_0017027", "MONDO_0011705", "MONDO_0020588", "EFO_0001071"], "name": "Lung Lymphangioleiomyomatosis"} +{"id": "EFO_1000334", "parentIds": ["MONDO_0011705", "MONDO_0020588", "EFO_0001071"], "name": "Lung Lymphangioleiomyomatosis"} {"id": "EFO_1000335", "parentIds": ["MONDO_0002732", "MONDO_0002363"], "name": "Lung Papilloma"} {"id": "EFO_1000336", "parentIds": ["EFO_1000520", "EFO_0003050"], "name": "Lung Sarcomatoid Carcinoma"} {"id": "EFO_1000337", "parentIds": ["MONDO_0003194"], "name": "Lung Sclerosing Hemangioma"} {"id": "EFO_1000338", "parentIds": ["EFO_0000571", "EFO_0000698"], "name": "Lung Signet Ring Cell Carcinoma"} -{"id": "EFO_1000339", "parentIds": ["EFO_0000691", "EFO_0000313", "EFO_0007352"], "name": "Lymphangiosarcoma"} +{"id": "EFO_1000339", "parentIds": ["EFO_0000691", "EFO_0000313", "MONDO_0000612"], "name": "Lymphangiosarcoma"} {"id": "EFO_1000340", "parentIds": ["EFO_0003050"], "name": "Lymphoepithelioma-Like Lung Carcinoma"} {"id": "EFO_1000341", "parentIds": ["EFO_0004198"], "name": "Lymphomatoid Papulosis"} {"id": "EFO_1000342", "parentIds": ["EFO_0003851"], "name": "Lymphoplasmacyte-Rich Meningioma"} {"id": "EFO_1000344", "parentIds": ["MONDO_0044743", "MONDO_0000521"], "name": "Major Salivary Gland Carcinoma"} {"id": "EFO_1000345", "parentIds": ["EFO_1000516", "EFO_1000344"], "name": "Major Salivary Gland Carcinoma ex Pleomorphic Adenoma"} {"id": "EFO_1000346", "parentIds": ["EFO_1000344", "MONDO_0021009"], "name": "Major Salivary Gland Mucoepidermoid Carcinoma"} -{"id": "EFO_1000347", "parentIds": ["MONDO_0002402", "MONDO_0021054"], "name": "Malignancy in Giant Cell Tumor of Bone"} +{"id": "EFO_1000347", "parentIds": ["MONDO_0021054", "MONDO_0002402"], "name": "Malignancy in Giant Cell Tumor of Bone"} {"id": "EFO_1000348", "parentIds": ["EFO_0000326", "MONDO_0002120", "EFO_0000239", "MONDO_0004202", "MONDO_0021089"], "name": "Malignant Adrenal Gland Pheochromocytoma"} -{"id": "EFO_1000349", "parentIds": ["EFO_0000489"], "name": "Malignant Bladder Paraganglioma"} +{"id": "EFO_1000349", "parentIds": ["EFO_0000489", "MONDO_0021066"], "name": "Malignant Bladder Paraganglioma"} {"id": "EFO_1000350", "parentIds": ["MONDO_0000637", "EFO_0003820"], "name": "Malignant Bone Neoplasm"} {"id": "EFO_1000352", "parentIds": ["EFO_0000514", "MONDO_0004992"], "name": "Malignant Germ Cell Tumor"} {"id": "EFO_1000353", "parentIds": ["Orphanet_271847", "MONDO_0004634", "MONDO_0024499", "MONDO_0021089", "EFO_0000326", "MONDO_0021069", "MONDO_0002132", "MONDO_0002095", "MONDO_0021064", "MONDO_0043218"], "name": "Malignant Jugulotympanic Paraganglioma"} {"id": "EFO_1000354", "parentIds": ["MONDO_0000376", "EFO_0003817"], "name": "Malignant Laryngeal Neoplasm"} -{"id": "EFO_1000355", "parentIds": ["EFO_0009541", "MONDO_0004992", "EFO_0000588", "EFO_0000684"], "name": "Malignant Mesothelioma"} +{"id": "EFO_1000355", "parentIds": ["EFO_0009541", "EFO_0000588", "MONDO_0000376"], "name": "Malignant Mesothelioma"} {"id": "EFO_1000356", "parentIds": ["MONDO_0004992", "MONDO_0021043"], "name": "Malignant Mixed Neoplasm"} {"id": "EFO_1000357", "parentIds": ["EFO_0003893"], "name": "Malignant Ovarian Brenner Tumor"} {"id": "EFO_1000358", "parentIds": ["EFO_0003893"], "name": "Malignant Ovarian Mixed Epithelial Tumor"} @@ -21805,11 +24765,11 @@ {"id": "EFO_1000380", "parentIds": ["EFO_1000616"], "name": "Mixed Cell Uveal Melanoma"} {"id": "EFO_1000381", "parentIds": ["EFO_0003865"], "name": "Mixed Epithelial Stromal Tumor of the Kidney"} {"id": "EFO_1000382", "parentIds": ["EFO_1000356", "EFO_0000304"], "name": "Mixed Lobular and Ductal Breast Carcinoma"} -{"id": "EFO_1000383", "parentIds": ["EFO_0009386", "EFO_0000232", "EFO_0001379"], "name": "Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma"} +{"id": "EFO_1000383", "parentIds": ["EFO_0000232", "EFO_0001379", "EFO_1000158"], "name": "Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma"} {"id": "EFO_1000384", "parentIds": ["EFO_0003826", "EFO_0005950", "EFO_0008581", "EFO_0008549"], "name": "Mixed Tumor of the Salivary Gland"} {"id": "EFO_1000385", "parentIds": ["MONDO_0002090", "MONDO_0021043"], "name": "Mixed Tumor of the Skin"} {"id": "EFO_1000386", "parentIds": ["EFO_0000503", "EFO_0000197"], "name": "Mucinous Gastric Adenocarcinoma"} -{"id": "EFO_1000388", "parentIds": ["EFO_0002428", "EFO_0004251", "MONDO_0023603"], "name": "Myelodysplastic/Myeloproliferative Neoplasm"} +{"id": "EFO_1000388", "parentIds": ["EFO_0002428", "EFO_0004251"], "name": "Myelodysplastic/Myeloproliferative Neoplasm"} {"id": "EFO_1000389", "parentIds": ["MONDO_0003342", "MONDO_0001572"], "name": "Myofibroma"} {"id": "EFO_1000390", "parentIds": ["MONDO_0021230"], "name": "Nabothian Cyst"} {"id": "EFO_1000391", "parentIds": ["EFO_0000662", "MONDO_0002232"], "name": "Nasal Cavity Polyp"} @@ -21822,13 +24782,13 @@ {"id": "EFO_1000398", "parentIds": ["EFO_0003860", "EFO_0003769"], "name": "Non-Functional Pancreatic Neuroendocrine Tumor"} {"id": "EFO_1000399", "parentIds": ["EFO_0003104", "MONDO_0021119"], "name": "Non-Functioning Adrenal Cortex Adenoma"} {"id": "EFO_1000400", "parentIds": ["MONDO_0002887", "EFO_0001379"], "name": "Non-Neoplastic Bile Duct Disorder"} -{"id": "EFO_1000401", "parentIds": ["EFO_0000616", "EFO_0009601"], "name": "Non-Seminomatous Lesion"} +{"id": "EFO_1000401", "parentIds": ["EFO_0000616", "MONDO_0021348"], "name": "Non-Seminomatous Lesion"} {"id": "EFO_1000402", "parentIds": ["EFO_1000143"], "name": "Normal Breast-Like Subtype of Breast Carcinoma"} {"id": "EFO_1000403", "parentIds": ["MONDO_0002236", "EFO_0000756"], "name": "Ocular Melanoma"} {"id": "EFO_1000404", "parentIds": ["EFO_1000403"], "name": "Ocular Melanoma with Extraocular Extension"} {"id": "EFO_1000405", "parentIds": ["EFO_1001171", "MONDO_0002466"], "name": "Ocular Sebaceous Carcinoma"} {"id": "EFO_1000406", "parentIds": ["EFO_0000616"], "name": "Odontogenic Cyst"} -{"id": "EFO_1000407", "parentIds": ["MONDO_0003142", "MONDO_0002749", "EFO_0000684", "MONDO_0002722", "EFO_1000884"], "name": "Olfactory Neuroblastoma"} +{"id": "EFO_1000407", "parentIds": ["MONDO_0003142", "MONDO_0002749", "MONDO_0000376", "MONDO_0002722", "EFO_1000884"], "name": "Olfactory Neuroblastoma"} {"id": "EFO_1000408", "parentIds": ["MONDO_0037745"], "name": "Ossifying Fibromyxoid Tumor"} {"id": "EFO_1000409", "parentIds": ["EFO_0003865"], "name": "Ossifying Renal Tumor of Infancy"} {"id": "EFO_1000410", "parentIds": ["EFO_0003820"], "name": "Osteoblastoma"} @@ -21852,7 +24812,7 @@ {"id": "EFO_1000428", "parentIds": ["MONDO_0024886", "EFO_1000116"], "name": "Ovarian Serous Adenofibroma"} {"id": "EFO_1000429", "parentIds": ["EFO_0003893"], "name": "Ovarian Sertoli-Leydig Cell Tumor"} {"id": "EFO_1000430", "parentIds": ["EFO_0003893"], "name": "Ovarian Sex Cord Tumor with Annular Tubules"} -{"id": "EFO_1000431", "parentIds": ["EFO_0008524", "MONDO_0002481", "EFO_0001075"], "name": "Ovarian Small Cell Carcinoma"} +{"id": "EFO_1000431", "parentIds": ["MONDO_0002481", "EFO_0008524", "EFO_0001075"], "name": "Ovarian Small Cell Carcinoma"} {"id": "EFO_1000432", "parentIds": ["MONDO_0003495", "EFO_0000707", "EFO_0001075"], "name": "Ovarian Squamous Cell Carcinoma"} {"id": "EFO_1000433", "parentIds": ["EFO_0003893"], "name": "Ovarian Steroid Cell Tumor"} {"id": "EFO_1000434", "parentIds": ["EFO_0003893"], "name": "Ovarian Stromal Luteoma"} @@ -21861,12 +24821,12 @@ {"id": "EFO_1000437", "parentIds": ["MONDO_0016096", "EFO_0007252"], "name": "Ovarian Yolk Sac Tumor"} {"id": "EFO_1000438", "parentIds": ["EFO_1000556"], "name": "Palmar Fibromatosis"} {"id": "EFO_1000439", "parentIds": ["EFO_1000044", "EFO_0000216"], "name": "Pancreatic Acinar Cell Carcinoma"} -{"id": "EFO_1000440", "parentIds": ["EFO_0009605", "EFO_0003769"], "name": "Pancreatic Gastrinoma"} -{"id": "EFO_1000441", "parentIds": ["EFO_0009605", "EFO_0003769"], "name": "Pancreatic Glucagonoma"} +{"id": "EFO_1000440", "parentIds": ["EFO_0003860", "EFO_0003769"], "name": "Pancreatic Gastrinoma"} +{"id": "EFO_1000441", "parentIds": ["EFO_0003860", "EFO_0003769"], "name": "Pancreatic Glucagonoma"} {"id": "EFO_1000442", "parentIds": ["EFO_0000563", "EFO_0007416", "EFO_0002618"], "name": "Pancreatic Large Cell Neuroendocrine Carcinoma"} {"id": "EFO_1000443", "parentIds": ["EFO_0003860"], "name": "Pancreatic Precancerous Condition"} {"id": "EFO_1000444", "parentIds": ["EFO_0008524", "EFO_0007416"], "name": "Pancreatic Small Cell Neuroendocrine Carcinoma"} -{"id": "EFO_1000445", "parentIds": ["EFO_0009605", "EFO_0003769"], "name": "Pancreatic Vipoma"} +{"id": "EFO_1000445", "parentIds": ["EFO_0003860", "EFO_0003769"], "name": "Pancreatic Vipoma"} {"id": "EFO_1000446", "parentIds": ["EFO_0003860"], "name": "Pancreatoblastoma"} {"id": "EFO_1000447", "parentIds": ["EFO_0002461", "EFO_0001379", "EFO_0003833"], "name": "Papillary Craniopharyngioma"} {"id": "EFO_1000448", "parentIds": ["MONDO_0021077", "MONDO_0021096"], "name": "Papillary Cystic Neoplasm"} @@ -21874,10 +24834,10 @@ {"id": "EFO_1000450", "parentIds": ["EFO_1000601", "EFO_1000646"], "name": "Papillary Transitional Cell Carcinoma"} {"id": "EFO_1000451", "parentIds": ["EFO_0001379", "EFO_0003833"], "name": "Papillary Tumor of the Pineal Region"} {"id": "EFO_1000452", "parentIds": ["MONDO_0002380"], "name": "Parachordoma"} -{"id": "EFO_1000453", "parentIds": ["MONDO_0025511", "MONDO_0002366"], "name": "Paraganglioma"} +{"id": "EFO_1000453", "parentIds": ["MONDO_0100545", "EFO_1001901", "MONDO_0002366"], "name": "Paraganglioma"} {"id": "EFO_1000454", "parentIds": ["MONDO_0000380", "EFO_0000231"], "name": "Paranasal Sinus Adenoid Cystic Carcinoma"} {"id": "EFO_1000455", "parentIds": ["MONDO_0000631", "EFO_0003866", "MONDO_0021078", "MONDO_0000382", "MONDO_0000633"], "name": "Paranasal Sinus Schneiderian Papilloma"} -{"id": "EFO_1000456", "parentIds": ["MONDO_0021311", "EFO_0000228"], "name": "Parathyroid Gland Carcinoma"} +{"id": "EFO_1000456", "parentIds": ["MONDO_0021311", "EFO_0000228", "EFO_0000508"], "name": "Parathyroid Gland Carcinoma"} {"id": "EFO_1000457", "parentIds": ["EFO_0000536", "EFO_0005754"], "name": "Parathyroid Hyperplasia"} {"id": "EFO_1000458", "parentIds": ["EFO_0000216", "EFO_1000460"], "name": "Parotid Gland Acinic Cell Carcinoma"} {"id": "EFO_1000459", "parentIds": ["EFO_1000460", "MONDO_0045063"], "name": "Parotid Gland Adenoid Cystic Carcinoma"} @@ -21887,17 +24847,17 @@ {"id": "EFO_1000463", "parentIds": ["EFO_1000460", "EFO_1001967"], "name": "Parotid Gland Squamous Cell Carcinoma"} {"id": "EFO_1000464", "parentIds": ["EFO_1000541"], "name": "PEComa"} {"id": "EFO_1000465", "parentIds": ["EFO_0000313", "MONDO_0001325"], "name": "Penile Carcinoma"} -{"id": "EFO_1000466", "parentIds": ["EFO_1001094", "EFO_1000556"], "name": "Penile Fibromatosis"} +{"id": "EFO_1000466", "parentIds": ["MONDO_0008231"], "name": "Penile Fibromatosis"} {"id": "EFO_1000467", "parentIds": ["EFO_0000588", "EFO_1001100"], "name": "Peritoneal Mesothelioma"} -{"id": "EFO_1000468", "parentIds": ["EFO_1000467", "MONDO_0015683"], "name": "Peritoneal Multicystic Mesothelioma"} +{"id": "EFO_1000468", "parentIds": ["EFO_1000467"], "name": "Peritoneal Multicystic Mesothelioma"} {"id": "EFO_1000469", "parentIds": ["MONDO_0003688", "EFO_1000467"], "name": "Peritoneal Well Differentiated Papillary Mesothelioma"} {"id": "EFO_1000470", "parentIds": ["EFO_1000280"], "name": "Peutz-Jeghers Polyp"} {"id": "EFO_1000471", "parentIds": ["EFO_1000271", "EFO_1000470"], "name": "Peutz-Jeghers Polyp of the Stomach"} {"id": "EFO_1000472", "parentIds": ["MONDO_0002038", "EFO_0005577", "EFO_0000231", "MONDO_0021345"], "name": "Pharyngeal Adenoid Cystic Carcinoma"} {"id": "EFO_1000473", "parentIds": ["EFO_0000616"], "name": "Phosphaturic Mesenchymal Tumor"} {"id": "EFO_1000474", "parentIds": ["MONDO_0024890"], "name": "Pineal Parenchymal Tumor of Intermediate Differentiation"} -{"id": "EFO_1000475", "parentIds": ["MONDO_0003249", "MONDO_0016708", "MONDO_0016721"], "name": "Pineoblastoma"} -{"id": "EFO_1000476", "parentIds": ["MONDO_0024890", "EFO_1000107", "MONDO_0016721", "MONDO_0000627"], "name": "Pineocytoma"} +{"id": "EFO_1000475", "parentIds": ["MONDO_0003249", "EFO_0005784"], "name": "Pineoblastoma"} +{"id": "EFO_1000476", "parentIds": ["MONDO_0024890", "EFO_1000107", "MONDO_0000627"], "name": "Pineocytoma"} {"id": "EFO_1000477", "parentIds": ["EFO_0005578", "MONDO_0003169", "MONDO_0016685", "MONDO_0003257"], "name": "Pituicytoma"} {"id": "EFO_1000478", "parentIds": ["MONDO_0017611", "EFO_0000232"], "name": "Pituitary Gland Adenoma"} {"id": "EFO_1000479", "parentIds": ["MONDO_0002178", "MONDO_0020550"], "name": "Placental Choriocarcinoma"} @@ -21910,12 +24870,12 @@ {"id": "EFO_1000487", "parentIds": ["MONDO_0017795"], "name": "Plexiform Ameloblastoma"} {"id": "EFO_1000488", "parentIds": ["EFO_0000519"], "name": "Polar Spongioblastoma"} {"id": "EFO_1000489", "parentIds": ["EFO_0000228", "EFO_0001379"], "name": "Poorly Differentiated Thyroid Gland Carcinoma"} -{"id": "EFO_1000490", "parentIds": ["EFO_0000403", "MONDO_0015818"], "name": "Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type"} +{"id": "EFO_1000490", "parentIds": ["EFO_0000403", "MONDO_0000612"], "name": "Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type"} {"id": "EFO_1000491", "parentIds": ["MONDO_0017343", "EFO_0000403", "MONDO_0015157"], "name": "Primary Effusion Lymphoma"} {"id": "EFO_1000492", "parentIds": ["EFO_0000181"], "name": "Primary Intraosseous Squamous Cell Carcinoma"} {"id": "EFO_1000493", "parentIds": ["EFO_0003851"], "name": "Primary Melanocytic Lesion of Meninges"} {"id": "EFO_1000494", "parentIds": ["MONDO_0003195", "MONDO_0015686"], "name": "Primary Peritoneal Serous Adenocarcinoma"} -{"id": "EFO_1000495", "parentIds": ["MONDO_0000621", "EFO_0000403", "MONDO_0020644"], "name": "Primary Pulmonary Diffuse Large B-Cell Lymphoma"} +{"id": "EFO_1000495", "parentIds": ["EFO_0000403", "MONDO_0020644", "MONDO_0000612"], "name": "Primary Pulmonary Diffuse Large B-Cell Lymphoma"} {"id": "EFO_1000496", "parentIds": ["EFO_1000051", "MONDO_0017824", "MONDO_0003430"], "name": "Prolactin-Producing Pituitary Gland Adenoma"} {"id": "EFO_1000497", "parentIds": ["MONDO_0017582", "MONDO_0003430"], "name": "Prolactin-Producing Pituitary Gland Carcinoma"} {"id": "EFO_1000498", "parentIds": ["MONDO_0002854", "EFO_0002970", "EFO_0002918"], "name": "Prostate Rhabdomyosarcoma"} @@ -21952,8 +24912,8 @@ {"id": "EFO_1000530", "parentIds": ["EFO_0004198"], "name": "Skin Cavernous Hemangioma"} {"id": "EFO_1000531", "parentIds": ["MONDO_0003363", "EFO_1001968"], "name": "Skin Sarcoma"} {"id": "EFO_1000532", "parentIds": ["EFO_0000228", "EFO_0005588"], "name": "small intestinal adenocarcinoma"} -{"id": "EFO_1000533", "parentIds": ["MONDO_0000621", "Orphanet_271835", "MONDO_0001852", "EFO_0000309"], "name": "Small Intestinal Burkitt Lymphoma"} -{"id": "EFO_1000534", "parentIds": ["MONDO_0000621", "EFO_0000403", "MONDO_0001852"], "name": "Small Intestinal Diffuse Large B-Cell Lymphoma"} +{"id": "EFO_1000533", "parentIds": ["MONDO_0043424", "Orphanet_271835", "MONDO_0001852", "MONDO_0000612", "EFO_0000309"], "name": "Small Intestinal Burkitt Lymphoma"} +{"id": "EFO_1000534", "parentIds": ["EFO_0000403", "MONDO_0000612", "MONDO_0001852"], "name": "Small Intestinal Diffuse Large B-Cell Lymphoma"} {"id": "EFO_1000535", "parentIds": ["MONDO_0001852", "MONDO_0000621", "MONDO_0019473", "MONDO_0004805"], "name": "Small Intestinal Enteropathy-Associated T-Cell Lymphoma"} {"id": "EFO_1000536", "parentIds": ["MONDO_0024474", "EFO_0004142", "MONDO_0004251"], "name": "Small Intestinal Intraepithelial Neoplasia"} {"id": "EFO_1000537", "parentIds": ["MONDO_0001852", "Orphanet_271835", "EFO_0000191"], "name": "Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma"} @@ -21962,39 +24922,39 @@ {"id": "EFO_1000540", "parentIds": ["MONDO_0044335", "MONDO_0002360"], "name": "Soft Tissue Chondroma"} {"id": "EFO_1000541", "parentIds": ["MONDO_0044334"], "name": "Soft Tissue Neoplasm"} {"id": "EFO_1000542", "parentIds": ["EFO_0003860"], "name": "Solid Pseudopapillary Neoplasm of the Pancreas"} -{"id": "EFO_1000543", "parentIds": ["Orphanet_183527", "EFO_0009488", "MONDO_0008978", "MONDO_0023603"], "name": "Spinal Chordoma"} +{"id": "EFO_1000543", "parentIds": ["Orphanet_183527", "MONDO_0008978", "EFO_0003828"], "name": "Spinal Chordoma"} {"id": "EFO_1000544", "parentIds": ["EFO_0000272", "MONDO_0002542"], "name": "Spinal Cord Astrocytoma"} {"id": "EFO_1000545", "parentIds": ["MONDO_0003544", "MONDO_0000640"], "name": "Spinal Cord Primitive Neuroectodermal Tumor"} {"id": "EFO_1000546", "parentIds": ["EFO_0000705", "EFO_0000756"], "name": "Spindle Cell Melanoma"} -{"id": "EFO_1000547", "parentIds": ["EFO_0000403", "EFO_0009002"], "name": "Splenic Diffuse Large B-Cell Lymphoma"} -{"id": "EFO_1000548", "parentIds": ["EFO_0000183", "EFO_0009002"], "name": "Splenic Hodgkin Lymphoma"} -{"id": "EFO_1000549", "parentIds": ["EFO_1001469", "EFO_0009002"], "name": "Splenic Mantle Cell Lymphoma"} +{"id": "EFO_1000547", "parentIds": ["MONDO_0036696", "EFO_0000403"], "name": "Splenic Diffuse Large B-Cell Lymphoma"} +{"id": "EFO_1000548", "parentIds": ["MONDO_0036696", "EFO_0000183"], "name": "Splenic Hodgkin Lymphoma"} +{"id": "EFO_1000549", "parentIds": ["MONDO_0036696", "EFO_1001469"], "name": "Splenic Mantle Cell Lymphoma"} {"id": "EFO_1000550", "parentIds": ["EFO_1000630"], "name": "Splenic Marginal Zone Lymphoma"} -{"id": "EFO_1000551", "parentIds": ["MONDO_0019004", "MONDO_0003321", "Orphanet_654"], "name": "Stromal Predominant Kidney Wilms Tumor"} -{"id": "EFO_1000552", "parentIds": ["MONDO_0004805", "Orphanet_183487", "MONDO_0015816", "MONDO_0015950", "MONDO_0000621"], "name": "Subcutaneous Panniculitis-Like T-Cell Lymphoma"} +{"id": "EFO_1000551", "parentIds": ["MONDO_0019004", "Orphanet_654"], "name": "Stromal Predominant Kidney Wilms Tumor"} +{"id": "EFO_1000552", "parentIds": ["MONDO_0004805", "MONDO_0100118", "Orphanet_183487", "MONDO_0015816", "MONDO_0000621"], "name": "Subcutaneous Panniculitis-Like T-Cell Lymphoma"} {"id": "EFO_1000553", "parentIds": ["MONDO_0016697"], "name": "Subependymoma"} {"id": "EFO_1000554", "parentIds": ["MONDO_0004724", "EFO_0000228"], "name": "Submandibular Gland Adenocarcinoma"} {"id": "EFO_1000555", "parentIds": ["MONDO_0004724", "MONDO_0045063"], "name": "Submandibular Gland Adenoid Cystic Carcinoma"} {"id": "EFO_1000556", "parentIds": ["EFO_0000497"], "name": "Superficial Fibromatosis"} -{"id": "EFO_1000557", "parentIds": ["MONDO_0044334", "EFO_0002461", "EFO_0000691", "EFO_0009676"], "name": "Synovial Chondromatosis"} +{"id": "EFO_1000557", "parentIds": ["MONDO_0044334", "EFO_0002461", "EFO_0000691", "MONDO_0000637", "EFO_0009676"], "name": "Synovial Chondromatosis"} {"id": "EFO_1000558", "parentIds": ["MONDO_0021110"], "name": "Syringocystadenoma Papilliferum"} {"id": "EFO_1000559", "parentIds": ["MONDO_0016586"], "name": "Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease"} -{"id": "EFO_1000560", "parentIds": ["EFO_0000209", "MONDO_0003540", "MONDO_0003537", "MONDO_0000430", "MONDO_0001023"], "name": "T-Cell Prolymphocytic Leukemia"} -{"id": "EFO_1000561", "parentIds": ["MONDO_0024876", "EFO_0002424"], "name": "Tendon Sheath Fibroma"} -{"id": "EFO_1000562", "parentIds": ["MONDO_0024876", "MONDO_0002528", "MONDO_0002171", "MONDO_0021581"], "name": "Tenosynovial Giant Cell Tumor"} +{"id": "EFO_1000560", "parentIds": ["EFO_0000209", "MONDO_0003537", "MONDO_0000430", "MONDO_0001023"], "name": "T-Cell Prolymphocytic Leukemia"} +{"id": "EFO_1000561", "parentIds": ["MONDO_0024876", "EFO_0002424", "EFO_0003820"], "name": "Tendon Sheath Fibroma"} +{"id": "EFO_1000562", "parentIds": ["MONDO_0024876", "MONDO_0002528", "EFO_0003820", "MONDO_0002171"], "name": "Tenosynovial Giant Cell Tumor"} {"id": "EFO_1000563", "parentIds": ["MONDO_0002601"], "name": "Teratoma with Malignant Transformation"} {"id": "EFO_1000564", "parentIds": ["MONDO_0002871", "EFO_0002893", "MONDO_0003403"], "name": "Testicular Choriocarcinoma"} {"id": "EFO_1000565", "parentIds": ["MONDO_0003403", "EFO_0004986", "MONDO_0002874", "EFO_0005784"], "name": "Testicular Embryonal Carcinoma"} -{"id": "EFO_1000566", "parentIds": ["MONDO_0021348", "MONDO_0018202", "MONDO_0018191"], "name": "Testicular Germ Cell Tumor"} -{"id": "EFO_1000567", "parentIds": ["EFO_0009601", "EFO_0004281"], "name": "Testicular Granulosa Cell Tumor"} -{"id": "EFO_1000568", "parentIds": ["EFO_0004281", "EFO_0009601"], "name": "Testicular Large Cell Calcifying Sertoli Cell Tumor"} -{"id": "EFO_1000569", "parentIds": ["EFO_0004281", "EFO_0009601"], "name": "Testicular Leydig Cell Tumor"} +{"id": "EFO_1000566", "parentIds": ["MONDO_0021348", "MONDO_0018202"], "name": "Testicular Germ Cell Tumor"} +{"id": "EFO_1000567", "parentIds": ["MONDO_0021348", "EFO_0004281"], "name": "Testicular Granulosa Cell Tumor"} +{"id": "EFO_1000568", "parentIds": ["EFO_0004281", "MONDO_0021348"], "name": "Testicular Large Cell Calcifying Sertoli Cell Tumor"} +{"id": "EFO_1000569", "parentIds": ["EFO_0004281", "MONDO_0021348"], "name": "Testicular Leydig Cell Tumor"} {"id": "EFO_1000570", "parentIds": ["EFO_1000566"], "name": "Testicular Non-Seminomatous Germ Cell Tumor"} -{"id": "EFO_1000571", "parentIds": ["EFO_0004281", "EFO_0009601"], "name": "Testicular Sclerosing Sertoli Cell Tumor"} -{"id": "EFO_1000572", "parentIds": ["EFO_0004281", "EFO_0009601"], "name": "Testicular Sertoli Cell Tumor"} +{"id": "EFO_1000571", "parentIds": ["EFO_0004281", "MONDO_0021348"], "name": "Testicular Sclerosing Sertoli Cell Tumor"} +{"id": "EFO_1000572", "parentIds": ["EFO_0004281", "MONDO_0021348"], "name": "Testicular Sertoli Cell Tumor"} {"id": "EFO_1000573", "parentIds": ["EFO_1000566"], "name": "Testicular Teratoma"} {"id": "EFO_1000574", "parentIds": ["MONDO_0003403", "MONDO_0002874", "EFO_0007252"], "name": "Testicular Yolk Sac Tumor"} -{"id": "EFO_1000575", "parentIds": ["MONDO_0023603", "EFO_0004251", "EFO_0002428"], "name": "Therapy-Related Myeloid Neoplasm"} +{"id": "EFO_1000575", "parentIds": ["EFO_0004251", "EFO_0002428"], "name": "Therapy-Related Myeloid Neoplasm"} {"id": "EFO_1000576", "parentIds": ["EFO_0000313", "MONDO_0002586", "MONDO_0018079"], "name": "Thymic Carcinoma"} {"id": "EFO_1000577", "parentIds": ["EFO_1000576", "EFO_1000520"], "name": "Thymic Sarcomatoid Carcinoma"} {"id": "EFO_1000578", "parentIds": ["EFO_0008524", "MONDO_0020516"], "name": "Thymic Small Cell Carcinoma"} @@ -22005,7 +24965,7 @@ {"id": "EFO_1000583", "parentIds": ["MONDO_0016974"], "name": "Thymoma Type B3"} {"id": "EFO_1000584", "parentIds": ["MONDO_0016974"], "name": "Thymoma Type B1"} {"id": "EFO_1000585", "parentIds": ["EFO_0000616"], "name": "Thyroglossal Duct Cyst"} -{"id": "EFO_1000587", "parentIds": ["MONDO_0019962", "MONDO_0000621", "EFO_0000403"], "name": "Thyroid Gland Diffuse Large B-Cell Lymphoma"} +{"id": "EFO_1000587", "parentIds": ["MONDO_0019962", "MONDO_0000612", "EFO_0000403"], "name": "Thyroid Gland Diffuse Large B-Cell Lymphoma"} {"id": "EFO_1000588", "parentIds": ["EFO_0003841"], "name": "Thyroid Gland Hyalinizing Trabecular Tumor"} {"id": "EFO_1000589", "parentIds": ["EFO_0003769"], "name": "Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma"} {"id": "EFO_1000590", "parentIds": ["MONDO_0003036", "MONDO_0024622"], "name": "Thyroid Gland Mucoepidermoid Carcinoma"} @@ -22014,20 +24974,20 @@ {"id": "EFO_1000593", "parentIds": ["EFO_0002892"], "name": "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation"} {"id": "EFO_1000594", "parentIds": ["EFO_0002892", "EFO_0000707"], "name": "Thyroid Gland Squamous Cell Carcinoma"} {"id": "EFO_1000595", "parentIds": ["EFO_0002892", "MONDO_0005232", "EFO_0006772"], "name": "Thyroid Gland Undifferentiated (Anaplastic) Carcinoma"} -{"id": "EFO_1000596", "parentIds": ["MONDO_0002422", "MONDO_0023603", "MONDO_0000952", "Orphanet_183527"], "name": "Tibial Adamantinoma"} -{"id": "EFO_1000597", "parentIds": ["MONDO_0000535"], "name": "Tonsillar Squamous Cell Carcinoma"} +{"id": "EFO_1000596", "parentIds": ["MONDO_0002422", "MONDO_0000952", "Orphanet_183527"], "name": "Tibial Adamantinoma"} +{"id": "EFO_1000597", "parentIds": ["MONDO_0021337", "MONDO_0044704"], "name": "Tonsillar Squamous Cell Carcinoma"} {"id": "EFO_1000598", "parentIds": ["EFO_1000599", "EFO_0000231"], "name": "Tracheal Adenoid Cystic Carcinoma"} {"id": "EFO_1000599", "parentIds": ["EFO_0000313", "MONDO_0001407"], "name": "Tracheal Carcinoma"} {"id": "EFO_1000600", "parentIds": ["EFO_0000707", "EFO_1000599"], "name": "Tracheal Squamous Cell Carcinoma"} {"id": "EFO_1000601", "parentIds": ["EFO_0000313"], "name": "Transitional Cell Carcinoma"} {"id": "EFO_1000602", "parentIds": ["EFO_0003851"], "name": "Transitional Meningioma"} {"id": "EFO_1000603", "parentIds": ["EFO_0005708"], "name": "Unclassified Renal Cell Carcinoma"} -{"id": "EFO_1000604", "parentIds": ["EFO_1001956", "EFO_0006772"], "name": "Undifferentiated Gallbladder Carcinoma"} +{"id": "EFO_1000604", "parentIds": ["EFO_1001956", "EFO_0006772", "MONDO_0018533"], "name": "Undifferentiated Gallbladder Carcinoma"} {"id": "EFO_1000605", "parentIds": ["EFO_0001075", "EFO_0006772"], "name": "Undifferentiated Ovarian Carcinoma"} -{"id": "EFO_1000606", "parentIds": ["EFO_0002517", "EFO_0006772"], "name": "Undifferentiated Pancreatic Carcinoma"} +{"id": "EFO_1000606", "parentIds": ["MONDO_0005184", "EFO_0006772"], "name": "Undifferentiated Pancreatic Carcinoma"} {"id": "EFO_1000607", "parentIds": ["EFO_1000606"], "name": "Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells"} {"id": "EFO_1000608", "parentIds": ["EFO_1001972"], "name": "Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant"} -{"id": "EFO_1000609", "parentIds": ["MONDO_0008627", "EFO_0000313"], "name": "Ureter Carcinoma"} +{"id": "EFO_1000609", "parentIds": ["MONDO_0008627", "EFO_0000313", "EFO_0002890"], "name": "Ureter Carcinoma"} {"id": "EFO_1000610", "parentIds": ["EFO_0008524", "EFO_1000609"], "name": "Ureter Small Cell Carcinoma"} {"id": "EFO_1000611", "parentIds": ["MONDO_0024337"], "name": "Urothelial Dysplasia"} {"id": "EFO_1000612", "parentIds": ["EFO_0000536", "MONDO_0004007"], "name": "Usual Ductal Breast Hyperplasia"} @@ -22039,7 +24999,7 @@ {"id": "EFO_1000619", "parentIds": ["MONDO_0000544", "EFO_1001447"], "name": "Vaginal Melanoma"} {"id": "EFO_1000620", "parentIds": ["MONDO_0015867", "MONDO_0001806", "EFO_0000707"], "name": "Vaginal Squamous Cell Carcinoma"} {"id": "EFO_1000621", "parentIds": ["EFO_1000453"], "name": "Vagus Nerve Paraganglioma"} -{"id": "EFO_1000622", "parentIds": ["EFO_0009605", "EFO_1001901"], "name": "VIP-Producing Neuroendocrine Tumor"} +{"id": "EFO_1000622", "parentIds": ["EFO_0003860", "MONDO_0024503"], "name": "VIP-Producing Neuroendocrine Tumor"} {"id": "EFO_1000623", "parentIds": ["MONDO_0007899", "MONDO_0001938"], "name": "Vulvar Lichen Sclerosus"} {"id": "EFO_1000624", "parentIds": ["EFO_0000707", "EFO_0002921", "MONDO_0002195"], "name": "Vulvar Squamous Cell Carcinoma"} {"id": "EFO_1000625", "parentIds": ["EFO_1000217", "MONDO_0036976", "MONDO_0021460"], "name": "Warthin Tumor"} @@ -22049,9 +25009,9 @@ {"id": "EFO_1000632", "parentIds": ["EFO_1000631", "MONDO_0044996"], "name": "cerebral palsy"} {"id": "EFO_1000633", "parentIds": ["MONDO_0021400", "MONDO_0000527"], "name": "adenomatous colon polyp"} {"id": "EFO_1000634", "parentIds": ["EFO_0000616"], "name": "hamartoma"} -{"id": "EFO_1000635", "parentIds": ["MONDO_0024286", "MONDO_0036976", "MONDO_0019063"], "name": "hemangioma"} +{"id": "EFO_1000635", "parentIds": ["MONDO_0024286", "MONDO_0036976"], "name": "hemangioma"} {"id": "EFO_1000636", "parentIds": ["EFO_0000701"], "name": "inflammatory skin disease"} -{"id": "EFO_1000637", "parentIds": ["MONDO_0001208", "MONDO_0017027"], "name": "acute respiratory distress syndrome"} +{"id": "EFO_1000637", "parentIds": ["MONDO_0001208"], "name": "acute respiratory distress syndrome"} {"id": "EFO_1000638", "parentIds": ["EFO_0000618"], "name": "Isaacs syndrome"} {"id": "EFO_1000639", "parentIds": ["EFO_0000589"], "name": "acquired metabolic disease"} {"id": "EFO_1000640", "parentIds": ["EFO_0003763", "EFO_0009533"], "name": "basal ganglia cerebrovascular disease"} @@ -22059,7 +25019,7 @@ {"id": "EFO_1000642", "parentIds": ["EFO_0000589"], "name": "hemochromatosis"} {"id": "EFO_1000643", "parentIds": ["EFO_0000474"], "name": "infantile epileptic encephalopathy"} {"id": "EFO_1000644", "parentIds": ["MONDO_0017015", "MONDO_0100131", "EFO_0010238"], "name": "newborn respiratory distress syndrome"} -{"id": "EFO_1000645", "parentIds": ["MONDO_0000992", "MONDO_0015914"], "name": "orthostatic intolerance"} +{"id": "EFO_1000645", "parentIds": ["MONDO_0100547", "MONDO_0021272", "MONDO_0000992"], "name": "orthostatic intolerance"} {"id": "EFO_1000646", "parentIds": ["EFO_0000313", "MONDO_0021096"], "name": "papillary carcinoma"} {"id": "EFO_1000647", "parentIds": ["EFO_0003086"], "name": "renal tubular transport disease"} {"id": "EFO_1000648", "parentIds": ["EFO_0000508", "EFO_0005541"], "name": "developmental dysplasia of the hip"} @@ -22077,8 +25037,8 @@ {"id": "EFO_1000663", "parentIds": ["EFO_1000720"], "name": "acquired keratosis"} {"id": "EFO_1000664", "parentIds": ["MONDO_0002406"], "name": "acrodermatitis"} {"id": "EFO_1000665", "parentIds": ["EFO_1000664"], "name": "acrodermatitis chronica atrophicans"} -{"id": "EFO_1000666", "parentIds": ["EFO_1000720", "MONDO_0019271"], "name": "acrokeratosis verruciformis"} -{"id": "EFO_1000667", "parentIds": ["MONDO_0000652", "MONDO_0019296", "EFO_1000728"], "name": "adiposis dolorosa"} +{"id": "EFO_1000666", "parentIds": ["EFO_1000720", "MONDO_0100118"], "name": "acrokeratosis verruciformis"} +{"id": "EFO_1000667", "parentIds": ["MONDO_0019296", "EFO_1000728"], "name": "adiposis dolorosa"} {"id": "EFO_1000668", "parentIds": ["EFO_0005319", "EFO_0000274"], "name": "allergic contact dermatitis"} {"id": "EFO_1000669", "parentIds": ["EFO_0000274", "EFO_0005531"], "name": "allergic urticaria"} {"id": "EFO_1000670", "parentIds": ["EFO_1000772"], "name": "anhidrosis"} @@ -22110,17 +25070,17 @@ {"id": "EFO_1000698", "parentIds": ["EFO_0000701"], "name": "facial dermatosis"} {"id": "EFO_1000699", "parentIds": ["MONDO_0060766", "MONDO_0060765"], "name": "fibroepithelial polyp of the anus"} {"id": "EFO_1000700", "parentIds": ["EFO_0009689", "MONDO_0060765"], "name": "fibroepithelial polyp of urethra"} -{"id": "EFO_1000701", "parentIds": ["MONDO_0019286", "MONDO_0021653", "MONDO_0004907"], "name": "follicular mucinosis"} +{"id": "EFO_1000701", "parentIds": ["EFO_1000763", "MONDO_0021653", "MONDO_0004907"], "name": "follicular mucinosis"} {"id": "EFO_1000702", "parentIds": ["MONDO_0002406", "MONDO_0002917"], "name": "folliculitis"} {"id": "EFO_1000703", "parentIds": ["EFO_1000772"], "name": "fox fordyce disease"} {"id": "EFO_1000704", "parentIds": ["MONDO_0002406"], "name": "granuloma annulare"} {"id": "EFO_1000705", "parentIds": ["MONDO_0002406"], "name": "granulomatous dermatitis"} {"id": "EFO_1000706", "parentIds": ["EFO_0000701"], "name": "hand dermatosis"} -{"id": "EFO_1000707", "parentIds": ["MONDO_0019296", "MONDO_0000652", "EFO_1000635"], "name": "hemangioma of subcutaneous tissue"} +{"id": "EFO_1000707", "parentIds": ["MONDO_0019296", "EFO_1000635", "MONDO_0000652"], "name": "hemangioma of subcutaneous tissue"} {"id": "EFO_1000708", "parentIds": ["EFO_1000720", "MONDO_0100118"], "name": "hereditary papulotranslucent acrokeratoderma"} {"id": "EFO_1000709", "parentIds": ["EFO_1000749", "EFO_0009682"], "name": "pemphigoid gestationis"} {"id": "EFO_1000710", "parentIds": ["MONDO_0002260"], "name": "hidradenitis suppurativa"} -{"id": "EFO_1000711", "parentIds": ["MONDO_0100118", "EFO_0000508"], "name": "hyperpigmentation of eyelid"} +{"id": "EFO_1000711", "parentIds": ["EFO_0000508", "EFO_0000701"], "name": "hyperpigmentation of eyelid"} {"id": "EFO_1000712", "parentIds": ["EFO_1000772"], "name": "hypohidrosis"} {"id": "EFO_1000713", "parentIds": ["EFO_0009547", "EFO_0000701"], "name": "hypopigmentation of eyelid"} {"id": "EFO_1000714", "parentIds": ["HP_0000999"], "name": "impetigo"} @@ -22129,23 +25089,23 @@ {"id": "EFO_1000718", "parentIds": ["EFO_0005319"], "name": "irritant dermatitis"} {"id": "EFO_1000719", "parentIds": ["EFO_1000684"], "name": "juvenile dermatitis herpetiformis"} {"id": "EFO_1000720", "parentIds": ["EFO_0000701", "MONDO_0045011"], "name": "keratosis"} -{"id": "EFO_1000721", "parentIds": ["MONDO_0100118", "EFO_1000739", "MONDO_0001240", "MONDO_0018477"], "name": "kernicterus due to isoimmunization"} +{"id": "EFO_1000721", "parentIds": ["EFO_1000739", "MONDO_0001240", "MONDO_0018477"], "name": "kernicterus due to isoimmunization"} {"id": "EFO_1000722", "parentIds": ["EFO_0005809", "MONDO_0002052", "EFO_0000701"], "name": "Kimura disease"} {"id": "EFO_1000723", "parentIds": ["EFO_0000701"], "name": "leg dermatosis"} {"id": "EFO_1000724", "parentIds": ["EFO_0000701"], "name": "lichen disease"} {"id": "EFO_1000725", "parentIds": ["EFO_1000724"], "name": "lichen nitidus"} {"id": "EFO_1000726", "parentIds": ["MONDO_0002406", "EFO_1000724"], "name": "lichen planus"} {"id": "EFO_1000727", "parentIds": ["EFO_0000701", "EFO_0000589"], "name": "lipodystrophy"} -{"id": "EFO_1000728", "parentIds": ["MONDO_0044983", "EFO_0000701"], "name": "lipomatosis"} -{"id": "EFO_1000729", "parentIds": ["MONDO_0016075", "EFO_0000701"], "name": "loiasis"} -{"id": "EFO_1000730", "parentIds": ["EFO_0003035", "EFO_1001047"], "name": "Ludwig's angina"} +{"id": "EFO_1000728", "parentIds": ["MONDO_0044983", "MONDO_0021440"], "name": "lipomatosis"} +{"id": "EFO_1000729", "parentIds": ["MONDO_0024610", "MONDO_0016075"], "name": "loiasis"} +{"id": "EFO_1000730", "parentIds": ["MONDO_0043424", "EFO_0003035", "EFO_1001047"], "name": "Ludwig's angina"} {"id": "EFO_1000731", "parentIds": ["EFO_1000675", "EFO_1001047", "EFO_0009481", "MONDO_0023369"], "name": "maxillary sinus cholesteatoma"} {"id": "EFO_1000732", "parentIds": ["EFO_1000728"], "name": "mediastinal lipomatosis"} {"id": "EFO_1000733", "parentIds": ["EFO_0005584"], "name": "melanoacanthoma"} {"id": "EFO_1000734", "parentIds": ["EFO_1000772"], "name": "miliaria"} {"id": "EFO_1000735", "parentIds": ["EFO_1000734"], "name": "miliaria rubra"} {"id": "EFO_1000736", "parentIds": ["EFO_0000701"], "name": "mongolian spot"} -{"id": "EFO_1000737", "parentIds": ["MONDO_0019296", "EFO_1000728", "MONDO_0000652"], "name": "multiple symmetric lipomatosis"} +{"id": "EFO_1000737", "parentIds": ["MONDO_0019296", "EFO_1000728"], "name": "multiple symmetric lipomatosis"} {"id": "EFO_1000738", "parentIds": ["MONDO_0021154"], "name": "necrobiosis lipoidica"} {"id": "EFO_1000739", "parentIds": ["EFO_0010238", "EFO_0000701"], "name": "neonatal jaundice"} {"id": "EFO_1000740", "parentIds": ["MONDO_0002406"], "name": "neurodermatitis"} @@ -22153,7 +25113,7 @@ {"id": "EFO_1000742", "parentIds": ["MONDO_0019296", "EFO_1000746"], "name": "nodular nonsuppurative panniculitis"} {"id": "EFO_1000744", "parentIds": ["EFO_0005319"], "name": "occupational dermatitis"} {"id": "EFO_1000745", "parentIds": ["EFO_1000720"], "name": "palmoplantar keratosis"} -{"id": "EFO_1000746", "parentIds": ["EFO_0000701", "EFO_1001986"], "name": "panniculitis"} +{"id": "EFO_1000746", "parentIds": ["EFO_0005755", "EFO_0000701", "EFO_1001986"], "name": "panniculitis"} {"id": "EFO_1000747", "parentIds": ["EFO_0000676"], "name": "parapsoriasis"} {"id": "EFO_1000748", "parentIds": ["EFO_1000728"], "name": "pelvic lipomatosis"} {"id": "EFO_1000749", "parentIds": ["EFO_0008598"], "name": "pemphigus"} @@ -22162,8 +25122,8 @@ {"id": "EFO_1000753", "parentIds": ["EFO_1000752", "EFO_1000718"], "name": "phototoxic dermatitis"} {"id": "EFO_1000754", "parentIds": ["EFO_0005531"], "name": "physical urticaria"} {"id": "EFO_1000756", "parentIds": ["MONDO_0002406", "EFO_1000697"], "name": "pityriasis rosea"} -{"id": "EFO_1000757", "parentIds": ["MONDO_0100118", "MONDO_0019268", "EFO_1000720"], "name": "porokeratosis"} -{"id": "EFO_1000758", "parentIds": ["MONDO_0019271", "Orphanet_183426", "MONDO_0017676", "MONDO_0019292"], "name": "punctate palmoplantar keratoderma type III"} +{"id": "EFO_1000757", "parentIds": ["MONDO_0019268", "EFO_1000720", "MONDO_0100118"], "name": "porokeratosis"} +{"id": "EFO_1000758", "parentIds": ["Orphanet_183426", "MONDO_0017675"], "name": "punctate palmoplantar keratoderma type III"} {"id": "EFO_1000759", "parentIds": ["EFO_0000701"], "name": "reactive cutaneous fibrous lesion"} {"id": "EFO_1000760", "parentIds": ["EFO_0000701"], "name": "rosacea"} {"id": "EFO_1000761", "parentIds": ["EFO_0000701"], "name": "scalp dermatosis"} @@ -22184,13 +25144,13 @@ {"id": "EFO_1000776", "parentIds": ["EFO_1000697"], "name": "viral exanthem"} {"id": "EFO_1000777", "parentIds": ["MONDO_0021396", "EFO_0008622", "MONDO_0060765"], "name": "vulva fibroepithelial polyp"} {"id": "EFO_1000778", "parentIds": ["EFO_1000717", "EFO_1000779"], "name": "vulvar inverted follicular keratosis"} -{"id": "EFO_1000779", "parentIds": ["EFO_0009259", "MONDO_0002195", "EFO_0005584", "EFO_0002921", "MONDO_0015950"], "name": "vulvar seborrheic keratosis"} +{"id": "EFO_1000779", "parentIds": ["EFO_0009259", "MONDO_0002195", "EFO_0005584", "EFO_0002921"], "name": "vulvar seborrheic keratosis"} {"id": "EFO_1000780", "parentIds": ["MONDO_0015175", "EFO_0000342"], "name": "autoimmune pancreatitis type 1"} {"id": "EFO_1000781", "parentIds": ["EFO_1000018"], "name": "overactive bladder"} {"id": "EFO_1000782", "parentIds": ["EFO_0000546", "EFO_0000684"], "name": "altitude sickness"} -{"id": "EFO_1000783", "parentIds": ["EFO_0003100", "EFO_0009532"], "name": "diabetic neuropathy"} +{"id": "EFO_1000783", "parentIds": ["EFO_0003100"], "name": "diabetic neuropathy"} {"id": "EFO_1000784", "parentIds": ["MONDO_0015492", "EFO_0009011"], "name": "microscopic polyangiitis"} -{"id": "EFO_1000785", "parentIds": ["MONDO_0015817", "EFO_0002913"], "name": "Sezary's disease"} +{"id": "EFO_1000785", "parentIds": ["EFO_0005952", "EFO_0002913"], "name": "Sezary's disease"} {"id": "EFO_1000786", "parentIds": ["MONDO_0005178"], "name": "osteoarthritis, hip"} {"id": "EFO_1000787", "parentIds": ["MONDO_0005178"], "name": "osteoarthritis, spine"} {"id": "EFO_1000788", "parentIds": ["MONDO_0005178"], "name": "osteoarthritis, toe"} @@ -22210,7 +25170,7 @@ {"id": "EFO_1000802", "parentIds": ["EFO_0008573", "EFO_0001422"], "name": "alcoholic liver cirrhosis"} {"id": "EFO_1000803", "parentIds": ["EFO_0009562"], "name": "alcoholic neuropathy"} {"id": "EFO_1000804", "parentIds": ["EFO_0003835"], "name": "anal gland neoplasm"} -{"id": "EFO_1000805", "parentIds": ["EFO_0000508", "EFO_0003839"], "name": "angioid streaks"} +{"id": "EFO_1000805", "parentIds": ["MONDO_0100545", "EFO_0003839"], "name": "angioid streaks"} {"id": "EFO_1000806", "parentIds": ["EFO_0000616"], "name": "angiomyoma"} {"id": "EFO_1000807", "parentIds": ["MONDO_0002679"], "name": "anterior cerebral artery infarction"} {"id": "EFO_1000808", "parentIds": ["MONDO_0020120", "MONDO_0004001", "EFO_0002970"], "name": "anterior compartment syndrome"} @@ -22230,13 +25190,13 @@ {"id": "EFO_1000822", "parentIds": ["EFO_1001067"], "name": "ascorbic acid deficiency"} {"id": "EFO_1000823", "parentIds": ["MONDO_0021108"], "name": "aseptic meningitis"} {"id": "EFO_1000824", "parentIds": ["EFO_0010238", "EFO_0000684"], "name": "asphyxia neonatorum"} -{"id": "EFO_1000825", "parentIds": ["MONDO_0020294", "MONDO_0017131", "MONDO_0002078"], "name": "atrial heart septal defect"} +{"id": "EFO_1000825", "parentIds": ["MONDO_0100547", "MONDO_0002078"], "name": "atrial heart septal defect"} {"id": "EFO_1000826", "parentIds": ["EFO_0000337"], "name": "atrophic gastritis"} {"id": "EFO_1000827", "parentIds": ["EFO_1000627"], "name": "atrophy of thyroid"} -{"id": "EFO_1000828", "parentIds": ["MONDO_0017814", "MONDO_0020743", "EFO_0000220", "MONDO_0017893"], "name": "B- and T-cell mixed leukemia"} +{"id": "EFO_1000828", "parentIds": ["MONDO_0017814", "MONDO_0020743", "EFO_0000220"], "name": "B- and T-cell mixed leukemia"} {"id": "EFO_1000829", "parentIds": ["EFO_0009450", "EFO_0000771", "MONDO_0043885"], "name": "bacterial conjunctivitis"} {"id": "EFO_1000830", "parentIds": ["EFO_0000771", "MONDO_0000565"], "name": "bacterial endocarditis"} -{"id": "EFO_1000831", "parentIds": ["EFO_0000584", "EFO_0000771"], "name": "bacterial meningitis"} +{"id": "EFO_1000831", "parentIds": ["EFO_0000771", "EFO_0000584"], "name": "bacterial meningitis"} {"id": "EFO_1000832", "parentIds": ["EFO_1000872", "MONDO_0024389"], "name": "Bacteroides infectious disease"} {"id": "EFO_1000833", "parentIds": ["MONDO_0002036"], "name": "balanitis"} {"id": "EFO_1000834", "parentIds": ["MONDO_0003641", "MONDO_0004805", "EFO_1000478"], "name": "basophil adenoma"} @@ -22257,10 +25217,10 @@ {"id": "EFO_1000849", "parentIds": ["EFO_1002018", "EFO_0003853"], "name": "bronchial neoplasm"} {"id": "EFO_1000850", "parentIds": ["EFO_1001047"], "name": "burning mouth syndrome"} {"id": "EFO_1000851", "parentIds": ["MONDO_0015926"], "name": "byssinosis"} -{"id": "EFO_1000852", "parentIds": ["OTAR_0000018"], "name": "carcinoid syndrome"} +{"id": "EFO_1000852", "parentIds": ["EFO_0000508"], "name": "carcinoid syndrome"} {"id": "EFO_1000853", "parentIds": ["MONDO_0002907", "EFO_0003781"], "name": "carotid artery thrombosis"} {"id": "EFO_1000854", "parentIds": ["EFO_1001998"], "name": "causalgia"} -{"id": "EFO_1000855", "parentIds": ["MONDO_0015765", "MONDO_0100196", "Orphanet_206634", "MONDO_0018943", "MONDO_0100150"], "name": "central core myopathy"} +{"id": "EFO_1000855", "parentIds": ["MONDO_0100196", "Orphanet_206634", "MONDO_0018943", "MONDO_0100150"], "name": "central core myopathy"} {"id": "EFO_1000856", "parentIds": ["EFO_0007201"], "name": "central neurocytoma"} {"id": "EFO_1000857", "parentIds": ["EFO_0005774", "MONDO_0002562"], "name": "central pontine myelinolysis"} {"id": "EFO_1000858", "parentIds": ["EFO_0003833"], "name": "cerebellum cancer"} @@ -22273,9 +25233,9 @@ {"id": "EFO_1000865", "parentIds": ["EFO_0001379", "MONDO_0002886", "EFO_0004210"], "name": "choledocholithiasis"} {"id": "EFO_1000866", "parentIds": ["MONDO_0002095", "MONDO_0021258", "EFO_1001230", "MONDO_0043218"], "name": "choroid cancer"} {"id": "EFO_1000867", "parentIds": ["EFO_1000478"], "name": "chromophobe adenoma"} -{"id": "EFO_1000868", "parentIds": ["EFO_1001116", "MONDO_0003334"], "name": "chronic inflammatory demyelinating polyradiculoneuropathy"} +{"id": "EFO_1000868", "parentIds": ["MONDO_0003335", "EFO_1001116", "MONDO_0003334"], "name": "chronic inflammatory demyelinating polyradiculoneuropathy"} {"id": "EFO_1000869", "parentIds": ["EFO_1000023"], "name": "chronic interstitial cystitis"} -{"id": "EFO_1000870", "parentIds": ["EFO_0005809", "EFO_0009386", "EFO_0005140"], "name": "CNS demyelinating autoimmune disease"} +{"id": "EFO_1000870", "parentIds": ["EFO_0005809", "EFO_0020092", "EFO_0005140"], "name": "CNS demyelinating autoimmune disease"} {"id": "EFO_1000871", "parentIds": ["EFO_1000988"], "name": "colonic pseudo-obstruction"} {"id": "EFO_1000872", "parentIds": ["MONDO_0021678"], "name": "commensal Bacteroidaceae infectious disease"} {"id": "EFO_1000873", "parentIds": ["EFO_0000771"], "name": "commensal Bifidobacteriales infectious disease"} @@ -22288,28 +25248,28 @@ {"id": "EFO_1000880", "parentIds": ["EFO_0009449"], "name": "corneal neovascularization"} {"id": "EFO_1000881", "parentIds": ["EFO_0001645"], "name": "coronary aneurysm"} {"id": "EFO_1000883", "parentIds": ["MONDO_0000831", "EFO_0001645"], "name": "coronary thrombosis"} -{"id": "EFO_1000884", "parentIds": ["EFO_0003833", "MONDO_0002633", "EFO_0006859", "MONDO_0021089"], "name": "cranial nerve malignant neoplasm"} +{"id": "EFO_1000884", "parentIds": ["MONDO_0001657", "MONDO_0002633", "EFO_0006859", "MONDO_0021089"], "name": "cranial nerve malignant neoplasm"} {"id": "EFO_1000885", "parentIds": ["MONDO_0002989", "MONDO_0002300"], "name": "cutaneous fibrous histiocytoma"} {"id": "EFO_1000886", "parentIds": ["EFO_0005531", "MONDO_0100118", "MONDO_0002300", "Orphanet_183487", "EFO_0009001"], "name": "cutaneous mastocytosis"} {"id": "EFO_1000887", "parentIds": ["EFO_0007504", "MONDO_0024295"], "name": "cutaneous syphilis"} -{"id": "EFO_1000888", "parentIds": ["MONDO_0018720"], "name": "cystic lymphangioma"} +{"id": "EFO_1000888", "parentIds": ["MONDO_0002013"], "name": "cystic lymphangioma"} {"id": "EFO_1000889", "parentIds": ["EFO_0006858"], "name": "cystic, mucinous, and serous neoplasm"} -{"id": "EFO_1000890", "parentIds": ["MONDO_0002427", "MONDO_0020134", "MONDO_0020130"], "name": "Dandy-Walker syndrome"} +{"id": "EFO_1000890", "parentIds": ["MONDO_0002427", "MONDO_0020134"], "name": "Dandy-Walker syndrome"} {"id": "EFO_1000891", "parentIds": ["EFO_1000999", "EFO_0004260"], "name": "De Quervain disease"} {"id": "EFO_1000892", "parentIds": ["EFO_1001216"], "name": "dental fluorosis"} {"id": "EFO_1000893", "parentIds": ["EFO_0009688"], "name": "denture stomatitis"} {"id": "EFO_1000894", "parentIds": ["EFO_0004198"], "name": "dermoid cyst"} -{"id": "EFO_1000895", "parentIds": ["EFO_1001184", "EFO_1001968", "MONDO_0015683"], "name": "desmoplastic small round cell tumor"} +{"id": "EFO_1000895", "parentIds": ["EFO_1001184", "EFO_1001968"], "name": "desmoplastic small round cell tumor"} {"id": "EFO_1000896", "parentIds": ["EFO_0003875"], "name": "diabetic angiopathy"} {"id": "EFO_1000897", "parentIds": ["EFO_0000400"], "name": "diabetic ketoacidosis"} -{"id": "EFO_1000898", "parentIds": ["MONDO_0700223", "EFO_0007233"], "name": "diaphragmatic eventration"} +{"id": "EFO_1000898", "parentIds": ["EFO_0000508", "EFO_0007233"], "name": "diaphragmatic eventration"} {"id": "EFO_1000899", "parentIds": ["EFO_0000373"], "name": "diastolic heart failure"} {"id": "EFO_1000900", "parentIds": ["EFO_0009477", "EFO_0005802", "MONDO_0042485"], "name": "discitis"} {"id": "EFO_1000901", "parentIds": ["EFO_1001199"], "name": "discrete subaortic stenosis"} {"id": "EFO_1000902", "parentIds": ["MONDO_0001423", "MONDO_0004630"], "name": "drug psychosis"} {"id": "EFO_1000903", "parentIds": ["EFO_0000618"], "name": "drug-induced akathisia"} {"id": "EFO_1000904", "parentIds": ["EFO_0000618"], "name": "drug-Induced dyskinesia"} -{"id": "EFO_1000905", "parentIds": ["HP_0012115"], "name": "drug-induced hepatitis"} +{"id": "EFO_1000905", "parentIds": ["EFO_0004228", "HP_0012115"], "name": "drug-induced hepatitis"} {"id": "EFO_1000906", "parentIds": ["EFO_0009455", "MONDO_0004768"], "name": "dry eye syndrome"} {"id": "EFO_1000907", "parentIds": ["MONDO_0021375", "MONDO_0021501"], "name": "duodenal benign neoplasm"} {"id": "EFO_1000908", "parentIds": ["HP_0004796"], "name": "duodenal obstruction"} @@ -22325,12 +25285,12 @@ {"id": "EFO_1000918", "parentIds": ["MONDO_0004900"], "name": "endolymphatic hydrops"} {"id": "EFO_1000919", "parentIds": ["EFO_1000920", "MONDO_0011962", "EFO_0000691"], "name": "endometrial stromal sarcoma"} {"id": "EFO_1000920", "parentIds": ["MONDO_0021251", "EFO_0004230"], "name": "endometrial stromal tumor"} -{"id": "EFO_1000921", "parentIds": ["EFO_0006890", "EFO_0002630"], "name": "endomyocardial fibrosis"} +{"id": "EFO_1000921", "parentIds": ["EFO_0006890", "EFO_0002630", "MONDO_0024757"], "name": "endomyocardial fibrosis"} {"id": "EFO_1000922", "parentIds": ["MONDO_0024950", "MONDO_0024990", "MONDO_0025003", "MONDO_0024985", "MONDO_0024913"], "name": "enterotoxemia"} {"id": "EFO_1000923", "parentIds": ["EFO_0003828"], "name": "epidural neoplasm"} {"id": "EFO_1000924", "parentIds": ["EFO_0000474"], "name": "epilepsia partialis continua"} -{"id": "EFO_1000925", "parentIds": ["EFO_0000756", "EFO_0000625"], "name": "epithelioid and spindle cell nevus"} -{"id": "EFO_1000926", "parentIds": ["MONDO_0017955", "MONDO_0015531"], "name": "Erdheim-Chester disease"} +{"id": "EFO_1000925", "parentIds": ["EFO_0000389", "EFO_0000625"], "name": "epithelioid and spindle cell nevus"} +{"id": "EFO_1000926", "parentIds": ["MONDO_0015531"], "name": "Erdheim-Chester disease"} {"id": "EFO_1000928", "parentIds": ["MONDO_0006751"], "name": "Erysipelothrix rhusiopathiae infectious disease"} {"id": "EFO_1000929", "parentIds": ["EFO_1000831"], "name": "Escherichia coli meningitis"} {"id": "EFO_1000930", "parentIds": ["EFO_0009544"], "name": "esophageal diverticulosis"} @@ -22343,16 +25303,16 @@ {"id": "EFO_1000937", "parentIds": ["MONDO_0001245"], "name": "fetal erythroblastosis"} {"id": "EFO_1000938", "parentIds": ["EFO_0000508", "MONDO_0000473"], "name": "fibromuscular dysplasia"} {"id": "EFO_1000939", "parentIds": ["MONDO_0024913", "MONDO_0700105"], "name": "freemartinism"} -{"id": "EFO_1000940", "parentIds": ["EFO_0000508", "EFO_0009532"], "name": "Frey Syndrome"} +{"id": "EFO_1000940", "parentIds": ["MONDO_0100545", "EFO_0009532"], "name": "Frey Syndrome"} {"id": "EFO_1000941", "parentIds": ["EFO_0002970", "EFO_1000999"], "name": "frozen shoulder"} {"id": "EFO_1000942", "parentIds": ["EFO_0000584", "MONDO_0002041"], "name": "fungal meningitis"} {"id": "EFO_1000943", "parentIds": ["EFO_1001126", "MONDO_0024389"], "name": "Fusobacterium infectious disease"} {"id": "EFO_1000944", "parentIds": ["MONDO_0000665"], "name": "gait apraxia"} {"id": "EFO_1000945", "parentIds": ["EFO_0010282", "MONDO_0001574", "MONDO_0021658"], "name": "gastric antral vascular ectasia"} -{"id": "EFO_1000946", "parentIds": ["EFO_0000217", "MONDO_0015111", "EFO_0000508"], "name": "gastric mucosal hypertrophy"} +{"id": "EFO_1000946", "parentIds": ["EFO_0000217", "EFO_0000508"], "name": "gastric mucosal hypertrophy"} {"id": "EFO_1000947", "parentIds": ["EFO_0010282"], "name": "gastric outlet obstruction"} {"id": "EFO_1000948", "parentIds": ["MONDO_0001318"], "name": "gastroparesis"} -{"id": "EFO_1000949", "parentIds": ["MONDO_0100298", "EFO_0000508", "MONDO_0018241"], "name": "gastroschisis"} +{"id": "EFO_1000949", "parentIds": ["MONDO_0100298", "EFO_0000508"], "name": "gastroschisis"} {"id": "EFO_1000950", "parentIds": ["EFO_0007176"], "name": "giant cell reparative granuloma"} {"id": "EFO_1000951", "parentIds": ["MONDO_0001165"], "name": "glossitis"} {"id": "EFO_1000952", "parentIds": ["Orphanet_79161"], "name": "glycogen storage disease VIII"} @@ -22399,7 +25359,7 @@ {"id": "EFO_1000993", "parentIds": ["EFO_0005774"], "name": "intracranial hypotension"} {"id": "EFO_1000994", "parentIds": ["EFO_0003763"], "name": "intracranial vasospasm"} {"id": "EFO_1000995", "parentIds": ["EFO_0009675"], "name": "intradermal nevus"} -{"id": "EFO_1000996", "parentIds": ["EFO_0003824"], "name": "iris cancer"} +{"id": "EFO_1000996", "parentIds": ["EFO_1001230", "MONDO_0021224"], "name": "iris cancer"} {"id": "EFO_1000997", "parentIds": ["EFO_1001231", "MONDO_0002289"], "name": "iritis"} {"id": "EFO_1000998", "parentIds": ["MONDO_0000956", "MONDO_0002564"], "name": "jejunal cancer"} {"id": "EFO_1000999", "parentIds": ["EFO_0002461"], "name": "joint disease"} @@ -22408,11 +25368,11 @@ {"id": "EFO_1001003", "parentIds": ["EFO_0003086"], "name": "kidney cortex necrosis"} {"id": "EFO_1001004", "parentIds": ["EFO_0003086"], "name": "kidney papillary necrosis"} {"id": "EFO_1001005", "parentIds": ["EFO_0005221"], "name": "Klatskin's tumor"} -{"id": "EFO_1001006", "parentIds": ["MONDO_0700065", "MONDO_0700027", "MONDO_0017975"], "name": "Klinefelter's syndrome"} +{"id": "EFO_1001006", "parentIds": ["MONDO_0017975", "MONDO_0700065", "MONDO_0700027"], "name": "Klinefelter's syndrome"} {"id": "EFO_1001007", "parentIds": ["EFO_0000313"], "name": "krebs 2 carcinoma"} -{"id": "EFO_1001008", "parentIds": ["EFO_0004280", "MONDO_0018926", "EFO_0004720"], "name": "kuru"} +{"id": "EFO_1001008", "parentIds": ["MONDO_0018926", "EFO_0004720", "EFO_0004280"], "name": "kuru"} {"id": "EFO_1001009", "parentIds": ["EFO_0009563"], "name": "kwashiorkor"} -{"id": "EFO_1001010", "parentIds": ["MONDO_0020072", "MONDO_0000414"], "name": "Landau-Kleffner syndrome"} +{"id": "EFO_1001010", "parentIds": ["MONDO_0020072", "MONDO_0100545", "MONDO_0000414"], "name": "Landau-Kleffner syndrome"} {"id": "EFO_1001011", "parentIds": ["EFO_1000847"], "name": "lateral medullary syndrome"} {"id": "EFO_1001012", "parentIds": ["EFO_0009709", "EFO_0003851"], "name": "leptomeningeal metastasis"} {"id": "EFO_1001013", "parentIds": ["EFO_0005950"], "name": "lethal midline granuloma"} @@ -22432,7 +25392,7 @@ {"id": "EFO_1001027", "parentIds": ["EFO_1000464"], "name": "lymphangiomyoma"} {"id": "EFO_1001028", "parentIds": ["EFO_0003839"], "name": "macular holes"} {"id": "EFO_1001029", "parentIds": ["EFO_1001067"], "name": "magnesium deficiency"} -{"id": "EFO_1001030", "parentIds": ["EFO_0009555", "EFO_0007531"], "name": "male genital tuberculosis"} +{"id": "EFO_1001030", "parentIds": ["EFO_0009555", "EFO_1000051", "EFO_0007531"], "name": "male genital tuberculosis"} {"id": "EFO_1001031", "parentIds": ["EFO_0000537"], "name": "malignant hypertension"} {"id": "EFO_1001032", "parentIds": ["EFO_0007352", "EFO_0001642"], "name": "malignant lymphatic vessel tumor"} {"id": "EFO_1001033", "parentIds": ["EFO_0009563"], "name": "marasmus"} @@ -22442,7 +25402,7 @@ {"id": "EFO_1001037", "parentIds": ["MONDO_0024263"], "name": "meconium aspiration syndrome"} {"id": "EFO_1001038", "parentIds": ["EFO_0003820"], "name": "melanotic neuroectodermal tumor"} {"id": "EFO_1001039", "parentIds": ["EFO_1002051", "MONDO_0002102", "EFO_0005531", "EFO_0000540"], "name": "Melkersson-Rosenthal syndrome"} -{"id": "EFO_1001040", "parentIds": ["EFO_1000831"], "name": "meningococcal meningitis"} +{"id": "EFO_1001040", "parentIds": ["EFO_0004249", "EFO_1000831"], "name": "meningococcal meningitis"} {"id": "EFO_1001041", "parentIds": ["EFO_1001184", "EFO_0000333"], "name": "mesenchymal chondrosarcoma"} {"id": "EFO_1001042", "parentIds": ["EFO_0000616"], "name": "mesenchymoma"} {"id": "EFO_1001043", "parentIds": ["EFO_0003875"], "name": "mesenteric vascular occlusion"} @@ -22463,7 +25423,7 @@ {"id": "EFO_1001060", "parentIds": ["MONDO_0005041"], "name": "neovascular glaucoma"} {"id": "EFO_1001061", "parentIds": ["EFO_0009431"], "name": "neurogenic bowel"} {"id": "EFO_1001062", "parentIds": ["EFO_0004283"], "name": "nodular goiter"} -{"id": "EFO_1001063", "parentIds": ["EFO_0003938", "EFO_0000771", "MONDO_0004848"], "name": "noma"} +{"id": "EFO_1001063", "parentIds": ["EFO_0003938", "EFO_0000771", "MONDO_0004848", "MONDO_0043424"], "name": "noma"} {"id": "EFO_1001064", "parentIds": ["EFO_0002893"], "name": "non-gestational choriocarcinoma"} {"id": "EFO_1001065", "parentIds": ["MONDO_0002045"], "name": "normal pressure hydrocephalus"} {"id": "EFO_1001066", "parentIds": ["EFO_1001890"], "name": "nut allergic reaction"} @@ -22476,7 +25436,7 @@ {"id": "EFO_1001073", "parentIds": ["MONDO_0002135", "MONDO_0002633", "EFO_0003833"], "name": "optic nerve neoplasm"} {"id": "EFO_1001074", "parentIds": ["EFO_0007405", "MONDO_0002708"], "name": "optic papillitis"} {"id": "EFO_1001075", "parentIds": ["EFO_1001047"], "name": "oral leukoedema"} -{"id": "EFO_1001076", "parentIds": ["MONDO_0001230", "EFO_0003035"], "name": "orbital cellulitis"} +{"id": "EFO_1001076", "parentIds": ["MONDO_0001230", "EFO_0003035", "MONDO_0043885"], "name": "orbital cellulitis"} {"id": "EFO_1001077", "parentIds": ["EFO_0007408"], "name": "orbital plasma cell granuloma"} {"id": "EFO_1001078", "parentIds": ["EFO_0009601"], "name": "orchitis"} {"id": "EFO_1001079", "parentIds": ["MONDO_0010795", "EFO_0000232", "EFO_0003769"], "name": "oxyphilic adenoma"} @@ -22488,7 +25448,7 @@ {"id": "EFO_1001085", "parentIds": ["MONDO_0018215", "EFO_0009562", "EFO_0003782"], "name": "paraneoplastic polyneuropathy"} {"id": "EFO_1001086", "parentIds": ["EFO_1001104"], "name": "paraphimosis"} {"id": "EFO_1001087", "parentIds": ["MONDO_0036976", "MONDO_0021463", "EFO_0000232"], "name": "parathyroid adenoma"} -{"id": "EFO_1001088", "parentIds": ["EFO_1000986", "MONDO_0002970", "MONDO_0004674"], "name": "pars planitis"} +{"id": "EFO_1001088", "parentIds": ["MONDO_0002970", "MONDO_0004674", "EFO_1000986"], "name": "pars planitis"} {"id": "EFO_1001089", "parentIds": ["EFO_0004263"], "name": "partial motor epilepsy"} {"id": "EFO_1001090", "parentIds": ["EFO_0004263"], "name": "partial sensory epilepsy"} {"id": "EFO_1001091", "parentIds": ["MONDO_0040998", "EFO_0003033"], "name": "Pasteurella hemorrhagic septicemia"} @@ -22499,7 +25459,7 @@ {"id": "EFO_1001096", "parentIds": ["EFO_1001391"], "name": "periapical granuloma"} {"id": "EFO_1001097", "parentIds": ["MONDO_0002471", "EFO_0005856"], "name": "periarthritis"} {"id": "EFO_1001098", "parentIds": ["EFO_0000649", "EFO_0009670"], "name": "pericoronitis"} -{"id": "EFO_1001099", "parentIds": ["EFO_0003086"], "name": "perinephritis"} +{"id": "EFO_1001099", "parentIds": ["EFO_0003086", "EFO_0005755"], "name": "perinephritis"} {"id": "EFO_1001100", "parentIds": ["EFO_0000616", "EFO_0009541"], "name": "peritoneal neoplasm"} {"id": "EFO_1001101", "parentIds": ["EFO_1000915"], "name": "periventricular leukomalacia"} {"id": "EFO_1001102", "parentIds": ["EFO_0009387"], "name": "peroneal nerve paralysis"} @@ -22515,7 +25475,7 @@ {"id": "EFO_1001112", "parentIds": ["MONDO_0018795"], "name": "platelet storage pool deficiency"} {"id": "EFO_1001113", "parentIds": ["EFO_0009431"], "name": "pneumatosis cystoides intestinalis"} {"id": "EFO_1001114", "parentIds": ["EFO_0000772", "MONDO_0001316"], "name": "pneumococcal meningitis"} -{"id": "EFO_1001115", "parentIds": ["MONDO_0018215", "MONDO_0016169", "MONDO_0004805"], "name": "POEMS syndrome"} +{"id": "EFO_1001115", "parentIds": ["MONDO_0700252", "MONDO_0015923", "MONDO_0700253", "MONDO_0018215", "MONDO_0004805"], "name": "POEMS syndrome"} {"id": "EFO_1001116", "parentIds": ["MONDO_0002562", "EFO_0009562"], "name": "polyradiculoneuropathy"} {"id": "EFO_1001117", "parentIds": ["EFO_1000018", "EFO_0009534"], "name": "postcholecystectomy syndrome"} {"id": "EFO_1001118", "parentIds": ["MONDO_0002679", "EFO_1000859"], "name": "posterior cerebral artery infarction"} @@ -22529,7 +25489,7 @@ {"id": "EFO_1001126", "parentIds": ["MONDO_0021678"], "name": "primary Fusobacteriaceae infectious disease"} {"id": "EFO_1001127", "parentIds": ["EFO_0000771"], "name": "primary Haemophilus infectious disease"} {"id": "EFO_1001128", "parentIds": ["EFO_1001162", "MONDO_0021678"], "name": "Rickettsiaceae infectious disease"} -{"id": "EFO_1001129", "parentIds": ["Orphanet_98668"], "name": "proliferative vitreoretinopathy"} +{"id": "EFO_1001129", "parentIds": ["Orphanet_98657"], "name": "proliferative vitreoretinopathy"} {"id": "EFO_1001130", "parentIds": ["EFO_0000771"], "name": "Proteus infectious disease"} {"id": "EFO_1001131", "parentIds": ["MONDO_0003569", "EFO_0005774"], "name": "pseudobulbar palsy"} {"id": "EFO_1001132", "parentIds": ["EFO_0003763", "EFO_1000992"], "name": "pseudotumor cerebri"} @@ -22538,12 +25498,12 @@ {"id": "EFO_1001135", "parentIds": ["EFO_0003818"], "name": "pulmonary plasma cell granuloma"} {"id": "EFO_1001137", "parentIds": ["EFO_1001138"], "name": "pulmonary subvalvular stenosis"} {"id": "EFO_1001138", "parentIds": ["EFO_0009564"], "name": "pulmonary valve stenosis"} -{"id": "EFO_1001139", "parentIds": ["EFO_0000771", "EFO_0009540"], "name": "pulpitis"} +{"id": "EFO_1001139", "parentIds": ["EFO_0000771", "MONDO_0043424", "EFO_0005755", "EFO_0009540"], "name": "pulpitis"} {"id": "EFO_1001140", "parentIds": ["EFO_1002050"], "name": "pyelitis"} {"id": "EFO_1001141", "parentIds": ["EFO_1001140", "EFO_0009572", "MONDO_0005247"], "name": "pyelonephritis"} {"id": "EFO_1001142", "parentIds": ["Orphanet_79161", "MONDO_0019225"], "name": "pyruvate carboxylase deficiency disease"} {"id": "EFO_1001143", "parentIds": ["MONDO_0024334", "MONDO_0001459", "MONDO_0003607", "EFO_1000843"], "name": "radial nerve lesion"} -{"id": "EFO_1001144", "parentIds": ["EFO_0000771", "MONDO_0100120"], "name": "rat-bite fever"} +{"id": "EFO_1001144", "parentIds": ["MONDO_0100120", "EFO_0000771"], "name": "rat-bite fever"} {"id": "EFO_1001145", "parentIds": ["EFO_0003875", "EFO_0000508"], "name": "Raynaud disease"} {"id": "EFO_1001146", "parentIds": ["MONDO_0100036"], "name": "reflex epilepsy"} {"id": "EFO_1001147", "parentIds": ["EFO_1001998"], "name": "reflex sympathetic dystrophy"} @@ -22563,17 +25523,17 @@ {"id": "EFO_1001161", "parentIds": ["EFO_0003777"], "name": "rheumatic heart disease"} {"id": "EFO_1001162", "parentIds": ["EFO_0000771"], "name": "rickettsiosis"} {"id": "EFO_1001163", "parentIds": ["MONDO_0002233"], "name": "root caries"} -{"id": "EFO_1001164", "parentIds": ["MONDO_0017954"], "name": "SAPHO syndrome"} +{"id": "EFO_1001164", "parentIds": ["MONDO_0019751"], "name": "SAPHO syndrome"} {"id": "EFO_1001165", "parentIds": ["EFO_0000540", "MONDO_0019751"], "name": "Schnitzler syndrome"} {"id": "EFO_1001166", "parentIds": ["EFO_0009558"], "name": "sciatic neuropathy"} {"id": "EFO_1001167", "parentIds": ["MONDO_0017705", "MONDO_0020292"], "name": "scimitar syndrome"} {"id": "EFO_1001168", "parentIds": ["EFO_0004720"], "name": "scrapie"} {"id": "EFO_1001169", "parentIds": ["MONDO_0045022", "MONDO_0037792", "MONDO_0024298"], "name": "scurvy"} {"id": "EFO_1001171", "parentIds": ["MONDO_0037735", "EFO_0000228", "EFO_1001183"], "name": "sebaceous adenocarcinoma"} -{"id": "EFO_1001172", "parentIds": ["EFO_1000763", "MONDO_0002297"], "name": "sebaceous gland neoplasm"} +{"id": "EFO_1001172", "parentIds": ["MONDO_0002297", "EFO_1000763"], "name": "sebaceous gland neoplasm"} {"id": "EFO_1001173", "parentIds": ["EFO_0008506"], "name": "secondary hyperparathyroidism"} {"id": "EFO_1001174", "parentIds": ["EFO_1000999", "EFO_0004260"], "name": "secondary hypertrophic osteoarthropathy"} -{"id": "EFO_1001175", "parentIds": ["EFO_0005772", "MONDO_0024237", "MONDO_0005180"], "name": "secondary Parkinson disease"} +{"id": "EFO_1001175", "parentIds": ["EFO_0005772", "MONDO_0005180"], "name": "secondary Parkinson disease"} {"id": "EFO_1001176", "parentIds": ["EFO_0004238"], "name": "sensorineural hearing loss"} {"id": "EFO_1001177", "parentIds": ["EFO_1001491"], "name": "septic abortion"} {"id": "EFO_1001178", "parentIds": ["EFO_1000999"], "name": "shoulder impingement syndrome"} @@ -22588,7 +25548,7 @@ {"id": "EFO_1001187", "parentIds": ["EFO_0004243", "EFO_1000045"], "name": "somatostatinoma"} {"id": "EFO_1001188", "parentIds": ["EFO_0006928"], "name": "space motion sickness"} {"id": "EFO_1001189", "parentIds": ["EFO_0009555"], "name": "spermatocele"} -{"id": "EFO_1001190", "parentIds": ["MONDO_0020674", "EFO_0009002"], "name": "splenic infarction"} +{"id": "EFO_1001190", "parentIds": ["MONDO_0020674", "EFO_0009002", "EFO_0010282"], "name": "splenic infarction"} {"id": "EFO_1001191", "parentIds": ["EFO_0005932"], "name": "steatitis"} {"id": "EFO_1001192", "parentIds": ["MONDO_0002372"], "name": "struma ovarii"} {"id": "EFO_1001193", "parentIds": ["MONDO_0000565"], "name": "subacute bacterial endocarditis"} @@ -22607,9 +25567,9 @@ {"id": "EFO_1001206", "parentIds": ["EFO_0007504"], "name": "syphilitic aortitis"} {"id": "EFO_1001207", "parentIds": ["EFO_0000373"], "name": "systolic heart failure"} {"id": "EFO_1001208", "parentIds": ["EFO_1001213"], "name": "tarsal tunnel syndrome"} -{"id": "EFO_1001209", "parentIds": ["MONDO_0002341", "MONDO_0015488", "MONDO_0003346", "EFO_0003086"], "name": "temporal arteritis"} +{"id": "EFO_1001209", "parentIds": ["MONDO_0002341", "MONDO_0003346", "EFO_0003086"], "name": "temporal arteritis"} {"id": "EFO_1001210", "parentIds": ["EFO_0000508", "EFO_0009488"], "name": "tethered spinal cord syndrome"} -{"id": "EFO_1001211", "parentIds": ["EFO_0003875", "MONDO_0015489"], "name": "thromboangiitis obliterans"} +{"id": "EFO_1001211", "parentIds": ["EFO_0003875"], "name": "thromboangiitis obliterans"} {"id": "EFO_1001212", "parentIds": ["EFO_0009189"], "name": "thyroid crisis"} {"id": "EFO_1001213", "parentIds": ["EFO_0009558"], "name": "tibial neuropathy"} {"id": "EFO_1001214", "parentIds": ["MONDO_0021250", "MONDO_0004685"], "name": "tonsil cancer"} @@ -22624,18 +25584,18 @@ {"id": "EFO_1001224", "parentIds": ["EFO_0009558", "EFO_1000844"], "name": "ulnar neuropathy"} {"id": "EFO_1001225", "parentIds": ["EFO_0003878"], "name": "Ureaplasma urealyticum urethritis"} {"id": "EFO_1001226", "parentIds": ["EFO_1002048"], "name": "uremia"} -{"id": "EFO_1001227", "parentIds": ["EFO_0000508", "EFO_1000018", "MONDO_0100191", "MONDO_0001926"], "name": "ureterocele"} +{"id": "EFO_1001227", "parentIds": ["EFO_0000508", "EFO_0003086", "EFO_1000018", "MONDO_0001926"], "name": "ureterocele"} {"id": "EFO_1001228", "parentIds": ["EFO_1000018", "MONDO_0001926", "EFO_0003086"], "name": "ureterolithiasis"} {"id": "EFO_1001229", "parentIds": ["EFO_1000886"], "name": "maculopapular cutaneous mastocytosis"} {"id": "EFO_1001230", "parentIds": ["MONDO_0021225", "MONDO_0002236"], "name": "uveal cancer"} {"id": "EFO_1001231", "parentIds": ["MONDO_0002661"], "name": "uveitis"} -{"id": "EFO_1001232", "parentIds": ["MONDO_0019338", "EFO_0003818"], "name": "uveoparotid fever"} +{"id": "EFO_1001232", "parentIds": ["MONDO_0019338", "DOID_13406"], "name": "uveoparotid fever"} {"id": "EFO_1001233", "parentIds": ["MONDO_0018686"], "name": "variant Creutzfeldt-Jakob disease"} {"id": "EFO_1001234", "parentIds": ["EFO_0004234"], "name": "vasculogenic impotence"} {"id": "EFO_1001235", "parentIds": ["EFO_0000771"], "name": "Vibrio infectious disease"} {"id": "EFO_1001236", "parentIds": ["EFO_1000823", "EFO_0000584"], "name": "viral meningitis"} {"id": "EFO_1001237", "parentIds": ["MONDO_0024298"], "name": "vitamin A deficiency"} -{"id": "EFO_1001238", "parentIds": ["MONDO_0004860", "MONDO_0020246", "Orphanet_98668"], "name": "vitreous detachment"} +{"id": "EFO_1001238", "parentIds": ["MONDO_0004860", "Orphanet_98657", "MONDO_0020246"], "name": "vitreous detachment"} {"id": "EFO_1001239", "parentIds": ["MONDO_0002187"], "name": "vulvitis"} {"id": "EFO_1001240", "parentIds": ["EFO_1001239", "MONDO_0002234"], "name": "vulvovaginitis"} {"id": "EFO_1001241", "parentIds": ["EFO_0005774", "MONDO_0021698"], "name": "Wernicke encephalopathy"} @@ -22650,7 +25610,7 @@ {"id": "EFO_1001250", "parentIds": ["MONDO_0020120", "EFO_0002970"], "name": "rotator cuff tear"} {"id": "EFO_1001252", "parentIds": ["EFO_0000178", "MONDO_0001063"], "name": "gastric cardia carcinoma"} {"id": "EFO_1001253", "parentIds": ["EFO_0000701"], "name": "maculopapular eruption"} -{"id": "EFO_1001254", "parentIds": ["EFO_1001176", "MONDO_0037940", "EFO_0004238"], "name": "noise-induced hearing loss"} +{"id": "EFO_1001254", "parentIds": ["EFO_1001176", "MONDO_0037940", "EFO_0004238", "MONDO_0100545"], "name": "noise-induced hearing loss"} {"id": "EFO_1001255", "parentIds": ["EFO_1001491"], "name": "spontaneous abortion"} {"id": "EFO_1001256", "parentIds": ["EFO_0003769"], "name": "ACTH Syndrome, Ectopic"} {"id": "EFO_1001257", "parentIds": ["EFO_0000222"], "name": "acute erythroblastic leukemia"} @@ -22663,7 +25623,7 @@ {"id": "EFO_1001264", "parentIds": ["MONDO_0000602", "MONDO_0004139"], "name": "Anemia, Hemolytic, Autoimmune"} {"id": "EFO_1001265", "parentIds": ["EFO_0004264"], "name": "Aneurysm, False"} {"id": "EFO_1001266", "parentIds": ["MONDO_0004892"], "name": "Aniseikonia"} -{"id": "EFO_1001267", "parentIds": ["MONDO_0020286"], "name": "Aortic Coarctation"} +{"id": "EFO_1001267", "parentIds": ["EFO_0000508", "EFO_0005775", "EFO_0005269"], "name": "Aortic Coarctation"} {"id": "EFO_1001268", "parentIds": ["EFO_0005775"], "name": "Aortic Rupture"} {"id": "EFO_1001269", "parentIds": ["EFO_0000763", "MONDO_0100120"], "name": "Arbovirus Infections"} {"id": "EFO_1001270", "parentIds": ["EFO_0004264"], "name": "Arterio-Arterial Fistula"} @@ -22680,7 +25640,7 @@ {"id": "EFO_1001283", "parentIds": ["EFO_0005741"], "name": "Candidiasis, Invasive"} {"id": "EFO_1001284", "parentIds": ["MONDO_0001574"], "name": "capillary leak syndrome"} {"id": "EFO_1001285", "parentIds": ["MONDO_0001370"], "name": "Cardiac Tamponade"} -{"id": "EFO_1001286", "parentIds": ["MONDO_0015213", "MONDO_0015509", "EFO_1000400"], "name": "Caroli Disease"} +{"id": "EFO_1001286", "parentIds": ["EFO_1000400", "EFO_0000508"], "name": "Caroli Disease"} {"id": "EFO_1001287", "parentIds": ["EFO_0001067"], "name": "Cestode Infections"} {"id": "EFO_1001288", "parentIds": ["MONDO_0021678"], "name": "Chlamydiaceae Infections"} {"id": "EFO_1001289", "parentIds": ["EFO_0003832", "EFO_1000025"], "name": "Cholecystitis, Acute"} @@ -22735,7 +25695,7 @@ {"id": "EFO_1001340", "parentIds": ["HP_0001945"], "name": "Heat Stroke"} {"id": "EFO_1001341", "parentIds": ["EFO_0000200"], "name": "Heavy Chain Disease"} {"id": "EFO_1001342", "parentIds": ["EFO_0001067"], "name": "Helminthiasis"} -{"id": "EFO_1001343", "parentIds": ["EFO_1000151", "EFO_0009386"], "name": "Hemangioma, Cavernous, Central Nervous System"} +{"id": "EFO_1001343", "parentIds": ["EFO_1000151", "MONDO_0003241", "MONDO_0003641"], "name": "Hemangioma, Cavernous, Central Nervous System"} {"id": "EFO_1001344", "parentIds": ["EFO_1000999"], "name": "Hemarthrosis"} {"id": "EFO_1001345", "parentIds": ["EFO_0008573"], "name": "Hepatitis, Alcoholic"} {"id": "EFO_1001346", "parentIds": ["EFO_0004264", "EFO_0001421"], "name": "Hepatopulmonary Syndrome"} @@ -22775,9 +25735,9 @@ {"id": "EFO_1001380", "parentIds": ["Orphanet_79204", "MONDO_0015531", "MONDO_0019255"], "name": "Niemann-Pick disease"} {"id": "EFO_1001381", "parentIds": ["Orphanet_391799", "Orphanet_306768"], "name": "Nocturnal Paroxysmal Dystonia"} {"id": "EFO_1001382", "parentIds": ["EFO_0000508", "EFO_0000684"], "name": "Obesity Hypoventilation Syndrome"} -{"id": "EFO_1001383", "parentIds": ["EFO_0004280", "EFO_0003966", "MONDO_0018215", "MONDO_0015144"], "name": "Opsoclonus-Myoclonus Syndrome"} +{"id": "EFO_1001383", "parentIds": ["EFO_0004280", "EFO_0003966", "MONDO_0018215"], "name": "Opsoclonus-Myoclonus Syndrome"} {"id": "EFO_1001384", "parentIds": ["EFO_0009541", "EFO_1000746"], "name": "Panniculitis, Peritoneal"} -{"id": "EFO_1001385", "parentIds": ["EFO_0000546", "EFO_0000618", "EFO_0010238"], "name": "Paralysis, Obstetric"} +{"id": "EFO_1001385", "parentIds": ["EFO_0010238", "EFO_0009490"], "name": "Paralysis, Obstetric"} {"id": "EFO_1001386", "parentIds": ["EFO_0000771"], "name": "Pasteurellaceae Infections"} {"id": "EFO_1001387", "parentIds": ["MONDO_0002405"], "name": "Peliosis Hepatis"} {"id": "EFO_1001388", "parentIds": ["EFO_0009549"], "name": "Pelvic Inflammatory Disease"} @@ -22813,7 +25773,7 @@ {"id": "EFO_1001419", "parentIds": ["EFO_0001067"], "name": "Schistosomiasis japonica"} {"id": "EFO_1001420", "parentIds": ["EFO_0001067"], "name": "Schistosomiasis mansoni"} {"id": "EFO_1001421", "parentIds": ["EFO_0000771"], "name": "Serratia Infections"} -{"id": "EFO_1001422", "parentIds": ["EFO_0000279", "MONDO_0018393"], "name": "Sertoli Cell-Only Syndrome"} +{"id": "EFO_1001422", "parentIds": ["EFO_0000279"], "name": "Sertoli Cell-Only Syndrome"} {"id": "EFO_1001423", "parentIds": ["EFO_0005774"], "name": "Shaken Baby Syndrome"} {"id": "EFO_1001424", "parentIds": ["MONDO_0021169", "MONDO_0003110"], "name": "skin epithelioid hemangioma"} {"id": "EFO_1001425", "parentIds": ["EFO_0003931"], "name": "Skull Fractures"} @@ -22840,28 +25800,27 @@ {"id": "EFO_1001447", "parentIds": ["MONDO_0001433", "MONDO_0021148"], "name": "Vaginal neoplasm"} {"id": "EFO_1001448", "parentIds": ["EFO_0003777"], "name": "Ventricular Outflow Obstruction"} {"id": "EFO_1001449", "parentIds": ["MONDO_0020674", "EFO_0004277"], "name": "Vertebrobasilar insufficiency"} -{"id": "EFO_1001450", "parentIds": ["EFO_0000508", "MONDO_0000992"], "name": "Wolff-Parkinson-White Syndrome"} +{"id": "EFO_1001450", "parentIds": ["MONDO_0000992", "MONDO_0800484"], "name": "Wolff-Parkinson-White Syndrome"} {"id": "EFO_1001451", "parentIds": ["MONDO_0044200", "Orphanet_183770"], "name": "X-Linked Combined Immunodeficiency Diseases"} -{"id": "EFO_1001452", "parentIds": ["MONDO_0019520", "MONDO_0019175", "EFO_0000701"], "name": "Yellow Nail Syndrome"} +{"id": "EFO_1001452", "parentIds": ["MONDO_0019175", "EFO_0000701"], "name": "Yellow Nail Syndrome"} {"id": "EFO_1001453", "parentIds": ["EFO_0006510"], "name": "Zoster Sine Herpete"} {"id": "EFO_1001454", "parentIds": ["MONDO_0002039"], "name": "amnesia"} {"id": "EFO_1001455", "parentIds": ["EFO_0000618"], "name": "auditory system disease"} {"id": "EFO_1001456", "parentIds": ["EFO_0009386", "MONDO_0020010"], "name": "central nervous system infection"} {"id": "EFO_1001458", "parentIds": ["EFO_0000318"], "name": "diabetic cardiomyopathy"} {"id": "EFO_1001459", "parentIds": ["EFO_0000701", "EFO_1000896"], "name": "diabetic foot"} -{"id": "EFO_1001460", "parentIds": ["EFO_0009959", "EFO_1001463", "EFO_0009431"], "name": "diverticulitis"} {"id": "EFO_1001461", "parentIds": ["EFO_0004264"], "name": "endothelial dysfunction"} {"id": "EFO_1001462", "parentIds": ["MONDO_0024295", "EFO_1001476", "MONDO_0021201"], "name": "erysipelas"} {"id": "EFO_1001463", "parentIds": ["EFO_0009431"], "name": "gastroenteritis"} {"id": "EFO_1001465", "parentIds": ["EFO_0006545"], "name": "gliosarcoma"} {"id": "EFO_1001466", "parentIds": ["EFO_0004237", "EFO_0003966"], "name": "Graves ophthalmopathy"} -{"id": "EFO_1001467", "parentIds": ["Orphanet_158300", "MONDO_0044972", "MONDO_0016340", "EFO_1001473"], "name": "Hypereosinophilic syndrome"} +{"id": "EFO_1001467", "parentIds": ["Orphanet_158300", "MONDO_0044972", "EFO_1001473"], "name": "Hypereosinophilic syndrome"} {"id": "EFO_1001469", "parentIds": ["MONDO_0017595"], "name": "Mantle cell lymphoma"} {"id": "EFO_1001471", "parentIds": ["EFO_0004198"], "name": "Merkel cell skin cancer"} {"id": "EFO_1001472", "parentIds": ["EFO_1001456", "EFO_0009488", "EFO_0001423"], "name": "Myelitis"} {"id": "EFO_1001473", "parentIds": ["EFO_0002630"], "name": "Non-familial restrictive cardiomyopathy"} {"id": "EFO_1001474", "parentIds": ["EFO_0000772"], "name": "pneumococcal pneumonia"} -{"id": "EFO_1001475", "parentIds": ["EFO_1001342", "MONDO_0100120"], "name": "schistosomiasis"} +{"id": "EFO_1001475", "parentIds": ["MONDO_0100120", "EFO_1001342"], "name": "schistosomiasis"} {"id": "EFO_1001476", "parentIds": ["MONDO_0021679"], "name": "streptococcal infection"} {"id": "EFO_1001477", "parentIds": ["EFO_0004264"], "name": "Systemic capillary leak syndrome"} {"id": "EFO_1001478", "parentIds": ["MP_0001845"], "name": "systemic inflammatory response syndrome"} @@ -22871,8 +25830,8 @@ {"id": "EFO_1001482", "parentIds": ["EFO_0011061", "EFO_0003777"], "name": "cardiotoxicity"} {"id": "EFO_1001483", "parentIds": ["EFO_0001645"], "name": "non-obstructive coronary artery disease"} {"id": "EFO_1001484", "parentIds": ["EFO_0007136"], "name": "pain agnosia"} -{"id": "EFO_1001485", "parentIds": ["Orphanet_156638", "EFO_1000973"], "name": "acromegaly"} -{"id": "EFO_1001486", "parentIds": ["MONDO_0007329", "EFO_0004267", "MONDO_0015509"], "name": "primary biliary cirrhosis"} +{"id": "EFO_1001485", "parentIds": ["EFO_1000973", "Orphanet_156638"], "name": "acromegaly"} +{"id": "EFO_1001486", "parentIds": ["MONDO_0007329", "EFO_0004267", "EFO_0009534", "EFO_0003891"], "name": "primary biliary cirrhosis"} {"id": "EFO_1001487", "parentIds": ["EFO_0004267"], "name": "secondary biliary cirrhosis"} {"id": "EFO_1001488", "parentIds": ["EFO_0005226"], "name": "influenza A (H1N1)"} {"id": "EFO_1001489", "parentIds": ["EFO_0005681"], "name": "skin and soft tissue Staphylococcus aureus infection"} @@ -22894,14 +25853,14 @@ {"id": "EFO_1001505", "parentIds": ["EFO_0001421"], "name": "cystic liver disease"} {"id": "EFO_1001506", "parentIds": ["MONDO_0001744"], "name": "primary angle closure glaucoma"} {"id": "EFO_1001507", "parentIds": ["EFO_1000652"], "name": "asparaginase-induced acute pancreatitis"} -{"id": "EFO_1001510", "parentIds": ["MONDO_0004750", "EFO_0000508"], "name": "specific language impairment"} +{"id": "EFO_1001510", "parentIds": ["MONDO_0004750", "MONDO_0100545"], "name": "specific language impairment"} {"id": "EFO_1001511", "parentIds": ["MONDO_0019052", "EFO_0000400", "EFO_0005140"], "name": "monogenic diabetes"} {"id": "EFO_1001512", "parentIds": ["MONDO_0011962", "EFO_0002919"], "name": "endometrial carcinoma"} -{"id": "EFO_1001513", "parentIds": ["EFO_0000616", "EFO_0001421"], "name": "liver neoplasm"} -{"id": "EFO_1001514", "parentIds": ["EFO_1001512", "EFO_0000466"], "name": "endometrial endometrioid carcinoma"} -{"id": "EFO_1001515", "parentIds": ["EFO_0005771", "EFO_0000466"], "name": "ovarian endometrioid carcinoma"} +{"id": "EFO_1001513", "parentIds": ["MONDO_0024477"], "name": "liver neoplasm"} +{"id": "EFO_1001514", "parentIds": ["EFO_0005232", "EFO_0000466"], "name": "endometrial endometrioid carcinoma"} +{"id": "EFO_1001515", "parentIds": ["EFO_0000466", "EFO_0006460"], "name": "ovarian endometrioid carcinoma"} {"id": "EFO_1001516", "parentIds": ["EFO_0001075"], "name": "ovarian serous carcinoma"} -{"id": "EFO_1001517", "parentIds": ["MONDO_0000490", "EFO_0006890"], "name": "renal fibrosis"} +{"id": "EFO_1001517", "parentIds": ["EFO_0003865", "MONDO_0000490", "EFO_0006890"], "name": "renal fibrosis"} {"id": "EFO_1001518", "parentIds": ["EFO_0008546"], "name": "heavy metal poisoning"} {"id": "EFO_1001753", "parentIds": ["EFO_0003030"], "name": "abdominal abscess"} {"id": "EFO_1001754", "parentIds": ["EFO_0007441"], "name": "Abruptio Placentae"} @@ -22919,12 +25878,12 @@ {"id": "EFO_1001766", "parentIds": ["EFO_0009444"], "name": "brain hypoxia"} {"id": "EFO_1001767", "parentIds": ["EFO_0003833"], "name": "brain stem neoplasm"} {"id": "EFO_1001768", "parentIds": ["EFO_1001518"], "name": "cadmium poisoning"} -{"id": "EFO_1001769", "parentIds": ["EFO_0003777", "EFO_0004243"], "name": "carcinoid heart disease"} +{"id": "EFO_1001769", "parentIds": ["EFO_0003777", "EFO_0004243", "MONDO_0024757"], "name": "carcinoid heart disease"} {"id": "EFO_1001770", "parentIds": ["EFO_0001071"], "name": "Carcinoma, Lewis Lung"} {"id": "EFO_1001771", "parentIds": ["EFO_0003777"], "name": "cardiac edema"} -{"id": "EFO_1001772", "parentIds": ["EFO_0000546", "EFO_0000618"], "name": "Central Cord Syndrome"} +{"id": "EFO_1001772", "parentIds": ["EFO_0009490"], "name": "Central Cord Syndrome"} {"id": "EFO_1001773", "parentIds": ["EFO_1001342"], "name": "Central Nervous System Helminthiasis"} -{"id": "EFO_1001774", "parentIds": ["EFO_0009386", "EFO_0004264"], "name": "central nervous system venous angioma"} +{"id": "EFO_1001774", "parentIds": ["MONDO_0043218", "EFO_0009386"], "name": "central nervous system venous angioma"} {"id": "EFO_1001775", "parentIds": ["EFO_0000618"], "name": "cerebrospinal fluid otorrhea"} {"id": "EFO_1001776", "parentIds": ["EFO_0010282"], "name": "Chilaiditi Syndrome"} {"id": "EFO_1001777", "parentIds": ["EFO_0000701"], "name": "chloracne"} @@ -22969,9 +25928,9 @@ {"id": "EFO_1001816", "parentIds": ["EFO_1001481"], "name": "neutropenic enterocolitis"} {"id": "EFO_1001817", "parentIds": ["EFO_0003966"], "name": "ocular posterior capsular rupture"} {"id": "EFO_1001818", "parentIds": ["MONDO_0023369", "EFO_1001047"], "name": "oral submucous fibrosis"} -{"id": "EFO_1001819", "parentIds": ["EFO_0000783", "EFO_0003966"], "name": "orbital myositis"} +{"id": "EFO_1001819", "parentIds": ["MONDO_0004746", "EFO_0000783"], "name": "orbital myositis"} {"id": "EFO_1001820", "parentIds": ["EFO_0005140"], "name": "oroficial granulomatosis"} -{"id": "EFO_1001821", "parentIds": ["EFO_0004260", "EFO_0009565"], "name": "osteoradionecrosis"} +{"id": "EFO_1001821", "parentIds": ["EFO_0004259", "EFO_0009565"], "name": "osteoradionecrosis"} {"id": "EFO_1001822", "parentIds": ["MONDO_0015530"], "name": "Paroxysmal Hemicrania"} {"id": "EFO_1001823", "parentIds": ["EFO_0003931"], "name": "Periprosthetic Fractures"} {"id": "EFO_1001824", "parentIds": ["MONDO_0000949"], "name": "pinguecula"} @@ -22986,7 +25945,7 @@ {"id": "EFO_1001833", "parentIds": ["EFO_0002461"], "name": "Pubic Symphysis Diastasis"} {"id": "EFO_1001834", "parentIds": ["EFO_0007157", "EFO_0007278"], "name": "pulmonary aspergillosis"} {"id": "EFO_1001835", "parentIds": ["EFO_1001140", "EFO_1000025"], "name": "pyelocystitis"} -{"id": "EFO_1001836", "parentIds": ["EFO_0003030", "EFO_0000771", "EFO_0001421"], "name": "pyogenic liver abscess"} +{"id": "EFO_1001836", "parentIds": ["MONDO_0700051", "EFO_0000771"], "name": "pyogenic liver abscess"} {"id": "EFO_1001837", "parentIds": ["EFO_0009549"], "name": "rectocele"} {"id": "EFO_1001838", "parentIds": ["EFO_0004264", "EFO_0003086"], "name": "renal nutcracker syndrome"} {"id": "EFO_1001839", "parentIds": ["EFO_0000684"], "name": "respiratory aspiration"} @@ -23007,7 +25966,7 @@ {"id": "EFO_1001854", "parentIds": ["EFO_0003030"], "name": "subphrenic abscess"} {"id": "EFO_1001855", "parentIds": ["EFO_0004264"], "name": "Superior Vena Cava Syndrome"} {"id": "EFO_1001856", "parentIds": ["EFO_0005140", "EFO_0005809"], "name": "Susac Syndrome"} -{"id": "EFO_1001857", "parentIds": ["MONDO_0018751", "EFO_0003966", "MONDO_0015236", "MONDO_0015488", "EFO_0009011", "MONDO_0020592", "EFO_0000618", "MONDO_0100191"], "name": "Takayasu arteritis"} +{"id": "EFO_1001857", "parentIds": ["EFO_0003966", "MONDO_0015236", "EFO_0009011", "MONDO_0020592", "EFO_0003086", "MONDO_0043218"], "name": "Takayasu arteritis"} {"id": "EFO_1001858", "parentIds": ["EFO_0002431"], "name": "Tarlov Cysts"} {"id": "EFO_1001859", "parentIds": ["EFO_0009555"], "name": "testicular hydrocele"} {"id": "EFO_1001860", "parentIds": ["EFO_0005803", "EFO_0000536", "EFO_0001379", "EFO_0000540"], "name": "thymus hyperplasia"} @@ -23025,27 +25984,27 @@ {"id": "EFO_1001872", "parentIds": ["EFO_1001908"], "name": "agoraphobia"} {"id": "EFO_1001873", "parentIds": ["EFO_1001903"], "name": "AIDS phobia"} {"id": "EFO_1001874", "parentIds": ["EFO_1001875"], "name": "amyloidoma"} -{"id": "EFO_1001875", "parentIds": ["EFO_1000639", "MONDO_0021179"], "name": "amyloidosis"} +{"id": "EFO_1001875", "parentIds": ["MONDO_0021179", "EFO_1000639"], "name": "amyloidosis"} {"id": "EFO_1001876", "parentIds": ["EFO_1001918"], "name": "animal phobia"} {"id": "EFO_1001877", "parentIds": ["GO_0007610"], "name": "anxiety-like behavior"} {"id": "EFO_1001878", "parentIds": ["EFO_1001918"], "name": "blood-injection-injury phobia"} {"id": "EFO_1001879", "parentIds": ["EFO_1001903"], "name": "cancerophobia"} {"id": "EFO_1001880", "parentIds": ["EFO_1001891", "EFO_0010282"], "name": "chemotherapy-induced gastrointestinal mucositis"} {"id": "EFO_1001881", "parentIds": ["EFO_0005531"], "name": "cold urticaria"} -{"id": "EFO_1001882", "parentIds": ["EFO_1001874", "MONDO_0015301"], "name": "cutaneous nodular amyloidosis"} +{"id": "EFO_1001882", "parentIds": ["MONDO_0015301", "EFO_1001874"], "name": "cutaneous nodular amyloidosis"} {"id": "EFO_1001883", "parentIds": ["EFO_0007308"], "name": "Dendritic keratitis"} {"id": "EFO_1001884", "parentIds": ["EFO_1001918"], "name": "dental phobia"} {"id": "EFO_1001885", "parentIds": ["EFO_1001910"], "name": "diffuse alveolar-septal amyloidosis"} {"id": "EFO_1001886", "parentIds": ["GO_0044237"], "name": "Endoplasmic Reticulum Stress"} {"id": "EFO_1001887", "parentIds": ["MONDO_0002614", "EFO_1001434"], "name": "epicondylitis"} -{"id": "EFO_1001888", "parentIds": ["EFO_0003966", "EFO_0005741"], "name": "eye infection"} +{"id": "EFO_1001888", "parentIds": ["MONDO_0043885"], "name": "eye infection"} {"id": "EFO_1001889", "parentIds": ["EFO_1001918"], "name": "flying phobia"} {"id": "EFO_1001890", "parentIds": ["MONDO_0005271"], "name": "food allergy"} {"id": "EFO_1001891", "parentIds": ["EFO_1001898"], "name": "gastrointestinal mucositis"} {"id": "EFO_1001892", "parentIds": ["EFO_0006788"], "name": "generalized anxiety disorder"} {"id": "EFO_1001893", "parentIds": ["EFO_0000701"], "name": "Hand-foot syndrome"} {"id": "EFO_1001896", "parentIds": ["EFO_1001887"], "name": "lateral epicondylitis"} -{"id": "EFO_1001897", "parentIds": ["MONDO_0016375", "EFO_1001899"], "name": "Morvan syndrome"} +{"id": "EFO_1001897", "parentIds": ["EFO_1001899"], "name": "Morvan syndrome"} {"id": "EFO_1001898", "parentIds": ["MP_0001845"], "name": "mucositis"} {"id": "EFO_1001899", "parentIds": ["EFO_1001902"], "name": "muscular channelopathy"} {"id": "EFO_1001900", "parentIds": ["EFO_0000474"], "name": "myoclonic epilepsy"} @@ -23064,7 +26023,7 @@ {"id": "EFO_1001914", "parentIds": ["EFO_1001891"], "name": "radiation-induced gastrointestinal mucositis"} {"id": "EFO_1001916", "parentIds": ["EFO_0006788"], "name": "separation anxiety disorder"} {"id": "EFO_1001917", "parentIds": ["EFO_1001908"], "name": "social anxiety disorder"} -{"id": "EFO_1001918", "parentIds": ["EFO_1001908", "EFO_0000508"], "name": "specific phobia"} +{"id": "EFO_1001918", "parentIds": ["MONDO_0100545", "EFO_1001908"], "name": "specific phobia"} {"id": "EFO_1001919", "parentIds": ["EFO_0009490"], "name": "Spinal cord injury"} {"id": "EFO_1001920", "parentIds": ["GO_0007610"], "name": "stress-induced anxiety-like behavior"} {"id": "EFO_1001922", "parentIds": ["EFO_1001910"], "name": "tracheobronchial amyloidosis"} @@ -23080,18 +26039,18 @@ {"id": "EFO_1001933", "parentIds": ["EFO_0000221", "EFO_0010283"], "name": "adult acute monocytic leukemia"} {"id": "EFO_1001934", "parentIds": ["EFO_0010283", "EFO_0000222"], "name": "adult acute myeloid leukemia"} {"id": "EFO_1001935", "parentIds": ["EFO_1001946", "MONDO_0003541", "MONDO_0020511"], "name": "adult B acute lymphoblastic leukemia"} -{"id": "EFO_1001936", "parentIds": ["MONDO_0003541", "EFO_0010283", "MONDO_0003540"], "name": "adult T acute lymphoblastic leukemia"} +{"id": "EFO_1001936", "parentIds": ["MONDO_0003541", "EFO_0010283", "EFO_0005592"], "name": "adult T acute lymphoblastic leukemia"} {"id": "EFO_1001937", "parentIds": ["EFO_0000756"], "name": "amelanotic melanoma"} {"id": "EFO_1001938", "parentIds": ["EFO_0007352", "MONDO_0004095", "EFO_0005952"], "name": "B-cell non-Hodgkins lymphoma"} {"id": "EFO_1001939", "parentIds": ["EFO_0000478"], "name": "Barrett adenocarcinoma"} -{"id": "EFO_1001940", "parentIds": ["EFO_0000707", "EFO_1000105"], "name": "basaloid squamous cell carcinoma"} +{"id": "EFO_1001940", "parentIds": ["EFO_0000707", "EFO_0010282", "EFO_1000105"], "name": "basaloid squamous cell carcinoma"} {"id": "EFO_1001941", "parentIds": ["EFO_0000571"], "name": "bronchioloalveolar carcinoma"} {"id": "EFO_1001942", "parentIds": ["MONDO_0001672", "EFO_0001071"], "name": "bronchogenic carcinoma"} {"id": "EFO_1001943", "parentIds": ["EFO_0003025", "EFO_0010283"], "name": "childhood acute megakaryoblastic leukemia"} {"id": "EFO_1001944", "parentIds": ["EFO_0000221", "EFO_0010283"], "name": "childhood acute monocytic leukemia"} {"id": "EFO_1001945", "parentIds": ["EFO_0010283", "EFO_0003028"], "name": "childhood acute myeloid leukemia with maturation"} -{"id": "EFO_1001946", "parentIds": ["MONDO_0020511", "EFO_0010283", "MONDO_0000621", "MONDO_0000870"], "name": "childhood B acute lymphoblastic leukemia"} -{"id": "EFO_1001947", "parentIds": ["MONDO_0000870", "MONDO_0004403", "EFO_0010283", "EFO_0000209"], "name": "childhood T acute lymphoblastic leukemia"} +{"id": "EFO_1001946", "parentIds": ["MONDO_0020511", "EFO_0010283", "MONDO_0000870", "MONDO_0000612"], "name": "childhood B acute lymphoblastic leukemia"} +{"id": "EFO_1001947", "parentIds": ["MONDO_0000621", "MONDO_0000870", "MONDO_0004403", "EFO_0010283", "EFO_0000209"], "name": "childhood T acute lymphoblastic leukemia"} {"id": "EFO_1001948", "parentIds": ["MONDO_0004403", "MONDO_0000873", "EFO_0010283", "MONDO_0003659"], "name": "childhood T lymphoblastic lymphoma"} {"id": "EFO_1001949", "parentIds": ["EFO_1001950", "EFO_0000365"], "name": "colon adenocarcinoma"} {"id": "EFO_1001950", "parentIds": ["MONDO_0024479", "EFO_1001951", "MONDO_0021063"], "name": "colon carcinoma"} @@ -23100,7 +26059,7 @@ {"id": "EFO_1001953", "parentIds": ["EFO_1000233"], "name": "endometrial endometrioid adenocarcinoma, variant with squamous differentiation"} {"id": "EFO_1001954", "parentIds": ["EFO_0000309"], "name": "Epstein-Barr virus-related Burkitts lymphoma"} {"id": "EFO_1001955", "parentIds": ["EFO_0010283", "EFO_0000218"], "name": "erythroleukemia"} -{"id": "EFO_1001956", "parentIds": ["MONDO_0005411", "EFO_1000218"], "name": "gallbladder carcinoma"} +{"id": "EFO_1001956", "parentIds": ["MONDO_0018531", "EFO_1000218", "MONDO_0005411"], "name": "gallbladder carcinoma"} {"id": "EFO_1001957", "parentIds": ["EFO_0002892"], "name": "hereditary thyroid gland medullary carcinoma"} {"id": "EFO_1001958", "parentIds": ["EFO_0002917"], "name": "high grade ovarian serous adenocarcinoma"} {"id": "EFO_1001959", "parentIds": ["EFO_1001961"], "name": "hilar cholangiocarcinoma"} @@ -23111,21 +26070,21 @@ {"id": "EFO_1001964", "parentIds": ["EFO_0003860"], "name": "pancreatic somatostatinoma"} {"id": "EFO_1001965", "parentIds": ["EFO_0005577", "MONDO_0021345", "EFO_0000181"], "name": "pharyngeal squamous cell carcinoma"} {"id": "EFO_1001966", "parentIds": ["EFO_0000365"], "name": "rectosigmoid adenocarcinoma"} -{"id": "EFO_1001967", "parentIds": ["MONDO_0017167", "EFO_0000199", "MONDO_0000521"], "name": "salivary gland squamous cell carcinoma"} -{"id": "EFO_1001968", "parentIds": ["MONDO_0024637", "EFO_0000691"], "name": "soft tissue sarcoma"} +{"id": "EFO_1001967", "parentIds": ["EFO_0000199", "MONDO_0017167", "MONDO_0000521"], "name": "salivary gland squamous cell carcinoma"} +{"id": "EFO_1001968", "parentIds": ["EFO_0000691", "MONDO_0024637"], "name": "soft tissue sarcoma"} {"id": "EFO_1001969", "parentIds": ["EFO_1000053"], "name": "squamous cell breast carcinoma, acantholytic variant"} {"id": "EFO_1001970", "parentIds": ["MONDO_0002363"], "name": "squamous papilloma"} {"id": "EFO_1001971", "parentIds": ["EFO_0003841"], "name": "thyroid gland sarcoma"} {"id": "EFO_1001972", "parentIds": ["EFO_1001968", "EFO_0005561", "MONDO_0021054"], "name": "undifferentiated pleomorphic sarcoma"} -{"id": "EFO_1001973", "parentIds": ["EFO_1000609", "EFO_0008528"], "name": "ureter urothelial carcinoma"} +{"id": "EFO_1001973", "parentIds": ["MONDO_0004030"], "name": "ureter urothelial carcinoma"} {"id": "EFO_1001974", "parentIds": ["MONDO_0004526", "EFO_0002914", "EFO_0000564"], "name": "uterine leiomyosarcoma"} {"id": "EFO_1001975", "parentIds": ["EFO_0002920", "EFO_0000564"], "name": "vulvar leiomyosarcoma"} {"id": "EFO_1001976", "parentIds": ["EFO_0000712"], "name": "cardioembolic stroke"} {"id": "EFO_1001977", "parentIds": ["MONDO_0017398"], "name": "3MC syndrome 2"} {"id": "EFO_1001978", "parentIds": ["MONDO_0017398"], "name": "3MC syndrome 1"} -{"id": "EFO_1001979", "parentIds": ["MONDO_0019824", "EFO_0001380"], "name": "Adrenocorticotropic hormone deficiency"} +{"id": "EFO_1001979", "parentIds": ["MONDO_0013099", "MONDO_0016553"], "name": "Adrenocorticotropic hormone deficiency"} {"id": "EFO_1001980", "parentIds": ["MONDO_0019233"], "name": "Alpha-methylacyl-CoA racemase deficiency"} -{"id": "EFO_1001981", "parentIds": ["MONDO_0017686", "Orphanet_308448"], "name": "Aminoacylase 1 deficiency"} +{"id": "EFO_1001981", "parentIds": ["MONDO_0017686", "Orphanet_308448", "MONDO_0004736"], "name": "Aminoacylase 1 deficiency"} {"id": "EFO_1001982", "parentIds": ["MONDO_0020122"], "name": "Antisynthetase syndrome"} {"id": "EFO_1001983", "parentIds": ["MONDO_0018993"], "name": "Autosomal recessive Charcot Marie Tooth disease type 2X"} {"id": "EFO_1001984", "parentIds": ["EFO_1001875"], "name": "cardiac amyloidosis"} @@ -23136,13 +26095,13 @@ {"id": "EFO_1001989", "parentIds": ["MONDO_0020129"], "name": "Monomelic amyotrophy"} {"id": "EFO_1001990", "parentIds": ["EFO_0003966", "MONDO_0003569"], "name": "ocular motility disease"} {"id": "EFO_1001991", "parentIds": ["EFO_0003818"], "name": "pneumonitis"} -{"id": "EFO_1001992", "parentIds": ["Orphanet_98505", "MONDO_0024257", "EFO_0008525", "MONDO_0000426"], "name": "Scapuloperoneal spinal muscular atrophy"} -{"id": "EFO_1001993", "parentIds": ["Orphanet_98702", "EFO_0005809", "EFO_0005755"], "name": "scleroderma"} -{"id": "EFO_1001994", "parentIds": ["MONDO_0020127", "MONDO_0100191", "MONDO_0700223", "EFO_1001993", "EFO_0003063"], "name": "Scleroderma Polymyositis Overlap Syndrome"} -{"id": "EFO_1001995", "parentIds": ["MONDO_0100191", "MONDO_0100118", "EFO_0000398", "EFO_1001993", "MONDO_0020127", "MONDO_0700223"], "name": "Sclerodermatomyositis"} +{"id": "EFO_1001992", "parentIds": ["EFO_0008525", "Orphanet_98505", "MONDO_0024257", "MONDO_0000426"], "name": "Scapuloperoneal spinal muscular atrophy"} +{"id": "EFO_1001993", "parentIds": ["Orphanet_98702", "MONDO_0000589", "EFO_0005809", "EFO_0005755"], "name": "scleroderma"} +{"id": "EFO_1001994", "parentIds": ["MONDO_0000774", "EFO_1001993", "EFO_0003063"], "name": "Scleroderma Polymyositis Overlap Syndrome"} +{"id": "EFO_1001995", "parentIds": ["MONDO_0000774", "EFO_0000398", "EFO_1001993"], "name": "Sclerodermatomyositis"} {"id": "EFO_1001996", "parentIds": ["MONDO_0019050", "Orphanet_183651"], "name": "Thalassemia"} {"id": "EFO_1001998", "parentIds": ["EFO_0009387", "MONDO_0700057"], "name": "complex regional pain syndrome"} -{"id": "EFO_1001999", "parentIds": ["EFO_0002609", "MONDO_0019751"], "name": "systemic juvenile idiopathic arthritis"} +{"id": "EFO_1001999", "parentIds": ["MONDO_0019751", "EFO_0002609"], "name": "systemic juvenile idiopathic arthritis"} {"id": "EFO_1002000", "parentIds": ["EFO_0000318"], "name": "Takotsubo cardiomyopathy"} {"id": "EFO_1002001", "parentIds": ["EFO_0000222"], "name": "core binding factor acute myeloid leukemia"} {"id": "EFO_1002002", "parentIds": ["EFO_1001134"], "name": "high altitude pulmonary edema"} @@ -23150,7 +26109,7 @@ {"id": "EFO_1002004", "parentIds": ["EFO_1002003"], "name": "drug hypersensitivity syndrome"} {"id": "EFO_1002005", "parentIds": ["EFO_1001800"], "name": "lumbar disc herniation"} {"id": "EFO_1002006", "parentIds": ["EFO_0000537"], "name": "treatment-resistant hypertension"} -{"id": "EFO_1002008", "parentIds": ["MONDO_0016708", "MONDO_0002217", "EFO_0005701"], "name": "atypical teratoid rhabdoid tumor"} +{"id": "EFO_1002008", "parentIds": ["MONDO_0002217", "EFO_0005701"], "name": "atypical teratoid rhabdoid tumor"} {"id": "EFO_1002009", "parentIds": ["EFO_0003839"], "name": "macular telangiectasia type 2"} {"id": "EFO_1002010", "parentIds": ["EFO_0000305"], "name": "TP53 Positive Breast Carcinoma"} {"id": "EFO_1002011", "parentIds": ["MONDO_0004979"], "name": "adult onset asthma"} @@ -23170,7 +26129,7 @@ {"id": "EFO_1002025", "parentIds": ["EFO_0007377"], "name": "measles"} {"id": "EFO_1002026", "parentIds": ["MONDO_0100329"], "name": "rubella"} {"id": "EFO_1002027", "parentIds": ["EFO_0005583"], "name": "osteomalacia"} -{"id": "EFO_1002028", "parentIds": ["Orphanet_68346", "MONDO_0100118"], "name": "cicatricial alopecia"} +{"id": "EFO_1002028", "parentIds": ["EFO_0000701", "Orphanet_68346"], "name": "cicatricial alopecia"} {"id": "EFO_1002029", "parentIds": ["EFO_1000024"], "name": "chronic rhinosinusitis with nasal polyps"} {"id": "EFO_1002030", "parentIds": ["EFO_1000024"], "name": "chronic rhinosinusitis without nasal polyps"} {"id": "EFO_1002031", "parentIds": ["MONDO_0009348"], "name": "Hodgkins lymphoma, mixed cellularity"} @@ -23192,20 +26151,20 @@ {"id": "OTAR_0000018", "parentIds": [], "name": "genetic, familial or congenital disease"} {"id": "OTAR_0000019", "parentIds": ["OTAR_0000018"], "name": "familial disease"} {"id": "OTAR_0000020", "parentIds": [], "name": "nutritional or metabolic disease"} -{"id": "Orphanet_100", "parentIds": ["Orphanet_95710", "Orphanet_98097", "Orphanet_139027", "Orphanet_98613", "Orphanet_183478", "Orphanet_183422", "Orphanet_169346", "Orphanet_98688"], "name": "Ataxia-telangiectasia"} +{"id": "Orphanet_100", "parentIds": ["Orphanet_95710", "Orphanet_98097", "Orphanet_139027", "Orphanet_98613", "Orphanet_183478", "Orphanet_183422", "MONDO_0004884", "Orphanet_169346", "Orphanet_98688"], "name": "Ataxia-telangiectasia"} {"id": "Orphanet_100006", "parentIds": ["Orphanet_85458"], "name": "Hereditary cerebral hemorrhage with amyloidosis, Dutch type"} {"id": "Orphanet_100008", "parentIds": ["Orphanet_85458"], "name": "Hereditary cerebral hemorrhage with amyloidosis, Icelandic type"} {"id": "Orphanet_100031", "parentIds": ["Orphanet_164001"], "name": "Hypoplastic amelogenesis imperfecta"} {"id": "Orphanet_100032", "parentIds": ["Orphanet_164001"], "name": "Hypocalcified amelogenesis imperfecta"} {"id": "Orphanet_100033", "parentIds": ["Orphanet_164001"], "name": "Hypomaturation amelogenesis imperfecta"} -{"id": "Orphanet_100043", "parentIds": ["MONDO_0024257", "Orphanet_71859", "MONDO_0015626"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A"} -{"id": "Orphanet_100044", "parentIds": ["Orphanet_71859", "MONDO_0015626", "MONDO_0024257"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B"} -{"id": "Orphanet_100045", "parentIds": ["MONDO_0015626", "MONDO_0024257", "Orphanet_71859"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C"} -{"id": "Orphanet_100046", "parentIds": ["Orphanet_71859", "MONDO_0015626", "MONDO_0024257"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"} +{"id": "Orphanet_100043", "parentIds": ["Orphanet_71859", "EFO_0003782", "MONDO_0015626"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A"} +{"id": "Orphanet_100044", "parentIds": ["Orphanet_71859", "EFO_0003782", "MONDO_0015626"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B"} +{"id": "Orphanet_100045", "parentIds": ["EFO_0003782", "MONDO_0015626", "Orphanet_71859"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C"} +{"id": "Orphanet_100046", "parentIds": ["Orphanet_71859", "MONDO_0015626", "EFO_0003782"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"} {"id": "Orphanet_100049", "parentIds": ["Orphanet_264992"], "name": "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies"} {"id": "Orphanet_1003", "parentIds": ["Orphanet_183481", "Orphanet_294959"], "name": "Scalp defects - postaxial polydactyly"} {"id": "Orphanet_1005", "parentIds": ["Orphanet_68346", "Orphanet_183763", "Orphanet_139027"], "name": "Alopecia-contractures-dwarfism-intellectual disability syndrome"} -{"id": "Orphanet_1008", "parentIds": ["Orphanet_68346", "Orphanet_183763", "MONDO_0100118"], "name": "Alopecia - epilepsy - pyorrhea - intellectual disability"} +{"id": "Orphanet_1008", "parentIds": ["Orphanet_68346", "Orphanet_183763", "EFO_0000701"], "name": "Alopecia - epilepsy - pyorrhea - intellectual disability"} {"id": "Orphanet_100978", "parentIds": ["Orphanet_404584", "Orphanet_183542", "Orphanet_183524"], "name": "Cloverleaf skull - asphyxiating thoracic dysplasia"} {"id": "Orphanet_100984", "parentIds": ["Orphanet_183500"], "name": "Autosomal dominant spastic paraplegia type 3"} {"id": "Orphanet_100985", "parentIds": ["Orphanet_183500"], "name": "Autosomal dominant spastic paraplegia type 4"} @@ -23235,9 +26194,9 @@ {"id": "Orphanet_101042", "parentIds": ["Orphanet_183530"], "name": "Taussig-Bing syndrome"} {"id": "Orphanet_101049", "parentIds": ["Orphanet_93447", "Orphanet_183634"], "name": "Familial hypocalciuric hypercalcemia type 2"} {"id": "Orphanet_101050", "parentIds": ["Orphanet_93447", "Orphanet_183634"], "name": "Familial hypocalciuric hypercalcemia type 3"} -{"id": "Orphanet_101052", "parentIds": ["Orphanet_48471"], "name": "Microlissencephaly type B"} +{"id": "Orphanet_101052", "parentIds": ["Orphanet_166478"], "name": "Microlissencephaly type B"} {"id": "Orphanet_101063", "parentIds": ["Orphanet_183530"], "name": "Situs inversus totalis"} -{"id": "Orphanet_101075", "parentIds": ["Orphanet_71859", "Orphanet_64747", "MONDO_0024257"], "name": "X-linked Charcot-Marie-Tooth disease type 1"} +{"id": "Orphanet_101075", "parentIds": ["Orphanet_71859", "EFO_0003782", "Orphanet_64747"], "name": "X-linked Charcot-Marie-Tooth disease type 1"} {"id": "Orphanet_101076", "parentIds": ["Orphanet_140462", "Orphanet_64747"], "name": "X-linked Charcot-Marie-Tooth disease type 2"} {"id": "Orphanet_101077", "parentIds": ["Orphanet_64747", "Orphanet_140462"], "name": "X-linked Charcot-Marie-Tooth disease type 3"} {"id": "Orphanet_101078", "parentIds": ["Orphanet_64747", "Orphanet_140462"], "name": "X-linked Charcot-Marie-Tooth disease type 4"} @@ -23245,7 +26204,7 @@ {"id": "Orphanet_101097", "parentIds": ["Orphanet_324442"], "name": "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"} {"id": "Orphanet_101102", "parentIds": ["MONDO_0018993"], "name": "Charcot-Marie-Tooth disease type 2H"} {"id": "Orphanet_101150", "parentIds": ["Orphanet_79190", "Orphanet_391799", "Orphanet_79169"], "name": "Autosomal recessive dopa-responsive dystonia"} -{"id": "Orphanet_1014", "parentIds": ["Orphanet_68346", "MONDO_0100118"], "name": "Alopecia - intellectual disability - hypergonadotropic hypogonadism"} +{"id": "Orphanet_1014", "parentIds": ["Orphanet_68346", "EFO_0000701"], "name": "Alopecia - intellectual disability - hypergonadotropic hypogonadism"} {"id": "Orphanet_101435", "parentIds": ["EFO_0003966", "EFO_0000508"], "name": "Rare genetic eye disease"} {"id": "Orphanet_101685", "parentIds": ["Orphanet_183757"], "name": "Rare intellectual disability without developmental anomaly"} {"id": "Orphanet_1018", "parentIds": ["Orphanet_98159", "Orphanet_93550"], "name": "X-linked diffuse leiomyomatosis - Alport syndrome"} @@ -23255,10 +26214,10 @@ {"id": "Orphanet_101972", "parentIds": ["MONDO_0003778"], "name": "Combined T and B cell immunodeficiency"} {"id": "Orphanet_101988", "parentIds": ["MONDO_0003778"], "name": "Primary immunodeficiency due to a defect in innate immunity"} {"id": "Orphanet_101992", "parentIds": ["Orphanet_101988"], "name": "Immunodeficiency due to a complement cascade protein anomaly"} -{"id": "Orphanet_102010", "parentIds": ["Orphanet_48471"], "name": "Other syndrome with lissencephaly as a major feature"} +{"id": "Orphanet_102010", "parentIds": ["Orphanet_166478"], "name": "Other syndrome with lissencephaly as a major feature"} {"id": "Orphanet_102014", "parentIds": ["Orphanet_206634"], "name": "Autosomal dominant limb-girdle muscular dystrophy"} {"id": "Orphanet_102020", "parentIds": ["Orphanet_68335"], "name": "Autosomal monosomy"} -{"id": "Orphanet_1021", "parentIds": ["Orphanet_71862"], "name": "Amaurosis - hypertrichosis"} +{"id": "Orphanet_1021", "parentIds": ["Orphanet_98657"], "name": "Amaurosis - hypertrichosis"} {"id": "Orphanet_1023", "parentIds": ["Orphanet_98595", "Orphanet_68346", "Orphanet_139027"], "name": "Congenital generalized hypertrichosis, Ambras type"} {"id": "Orphanet_1028", "parentIds": ["Orphanet_68346", "Orphanet_139027"], "name": "Amelo-onycho-hypohidrotic syndrome"} {"id": "Orphanet_1034", "parentIds": ["Orphanet_294929"], "name": "Amniotic bands"} @@ -23268,7 +26227,7 @@ {"id": "Orphanet_104013", "parentIds": ["Orphanet_165655"], "name": "Metabolic disease with intestinal involvement"} {"id": "Orphanet_104078", "parentIds": ["Orphanet_104009"], "name": "Unclassified intestinal pseudoobstruction"} {"id": "Orphanet_1044", "parentIds": ["Orphanet_98374", "Orphanet_79191"], "name": "Anemia due to adenosine triphosphatase deficiency"} -{"id": "Orphanet_1046", "parentIds": ["Orphanet_182043", "Orphanet_156622"], "name": "Lethal hemolytic anemia - genital anomalies"} +{"id": "Orphanet_1046", "parentIds": ["Orphanet_156622", "MONDO_0002334", "Orphanet_182043"], "name": "Lethal hemolytic anemia - genital anomalies"} {"id": "Orphanet_1048", "parentIds": ["Orphanet_269550", "Orphanet_183763"], "name": "Isolated anencephaly/exencephaly"} {"id": "Orphanet_1064", "parentIds": ["Orphanet_98640", "Orphanet_183539", "Orphanet_183763", "Orphanet_98632"], "name": "Aniridia - renal agenesis - psychomotor retardation"} {"id": "Orphanet_1065", "parentIds": ["Orphanet_183763", "Orphanet_98640", "Orphanet_98638", "Orphanet_108987", "Orphanet_98632"], "name": "Aniridia - cerebellar ataxia - intellectual disability"} @@ -23304,8 +26263,8 @@ {"id": "Orphanet_1145", "parentIds": ["Orphanet_404577", "Orphanet_98505"], "name": "X-linked distal arthrogryposis multiplex congenita"} {"id": "Orphanet_1150", "parentIds": ["Orphanet_404577", "Orphanet_156237"], "name": "Arthrogryposis multiplex congenita - whistling face"} {"id": "Orphanet_1154", "parentIds": ["Orphanet_404577"], "name": "Arthrogryposis with oculomotor limitation and electroretinal anomalies"} -{"id": "Orphanet_1168", "parentIds": ["Orphanet_98688", "Orphanet_98097", "Orphanet_2443", "Orphanet_225703"], "name": "Ataxia - oculomotor apraxia type 1"} -{"id": "Orphanet_1170", "parentIds": ["Orphanet_98539", "Orphanet_183518", "Orphanet_98693", "MONDO_0957003"], "name": "Autosomal recessive cerebelloparenchymal disorder type 3"} +{"id": "Orphanet_1168", "parentIds": ["Orphanet_98688", "Orphanet_98097", "Orphanet_2443", "MONDO_0004884", "Orphanet_225703"], "name": "Ataxia - oculomotor apraxia type 1"} +{"id": "Orphanet_1170", "parentIds": ["Orphanet_98539", "Orphanet_183518", "Orphanet_98693"], "name": "Autosomal recessive cerebelloparenchymal disorder type 3"} {"id": "Orphanet_1171", "parentIds": ["Orphanet_94145", "Orphanet_90642", "MONDO_0043878"], "name": "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss"} {"id": "Orphanet_1173", "parentIds": ["Orphanet_183518", "Orphanet_181387"], "name": "Cerebellar ataxia - hypogonadism"} {"id": "Orphanet_1174", "parentIds": ["Orphanet_139027", "Orphanet_68346"], "name": "Cerebellar ataxia - ectodermal dysplasia"} @@ -23317,14 +26276,14 @@ {"id": "Orphanet_1188", "parentIds": ["Orphanet_90642", "MONDO_0016612"], "name": "Ataxia-deafness-intellectual disability syndrome"} {"id": "Orphanet_1192", "parentIds": ["Orphanet_183539", "Orphanet_90642", "Orphanet_183512"], "name": "Atherosclerosis - deafness - diabetes - epilepsy - nephropathy"} {"id": "Orphanet_1194", "parentIds": ["Orphanet_309136"], "name": "Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency"} -{"id": "Orphanet_1195", "parentIds": ["MONDO_0019052", "Orphanet_98360"], "name": "Congenital atransferrinemia"} +{"id": "Orphanet_1195", "parentIds": ["Orphanet_98360", "EFO_0000589"], "name": "Congenital atransferrinemia"} {"id": "Orphanet_1200", "parentIds": ["Orphanet_183530", "Orphanet_90642"], "name": "Choanal atresia-deafness-cardiac defects-dysmorphism syndrome"} {"id": "Orphanet_1217", "parentIds": ["Orphanet_98505"], "name": "Spinal atrophy - ophthalmoplegia - pyramidal syndrome"} {"id": "Orphanet_122", "parentIds": ["Orphanet_183487"], "name": "Birt-Hogg-Dubé syndrome"} {"id": "Orphanet_1229", "parentIds": ["Orphanet_71859"], "name": "Congenital intrauterine infection-like syndrome"} {"id": "Orphanet_123", "parentIds": ["Orphanet_79366", "Orphanet_309136"], "name": "Björnstad syndrome"} -{"id": "Orphanet_124", "parentIds": ["Orphanet_183422", "Orphanet_79191", "MONDO_0001713", "Orphanet_68383", "Orphanet_156237"], "name": "Blackfan-Diamond anemia"} -{"id": "Orphanet_1243", "parentIds": ["Orphanet_71862"], "name": "Best vitelliform macular dystrophy"} +{"id": "Orphanet_124", "parentIds": ["Orphanet_183422", "Orphanet_79191", "Orphanet_68383", "Orphanet_156237"], "name": "Blackfan-Diamond anemia"} +{"id": "Orphanet_1243", "parentIds": ["Orphanet_98657"], "name": "Best vitelliform macular dystrophy"} {"id": "Orphanet_1246", "parentIds": ["Orphanet_183530"], "name": "Brachydactyly - nystagmus - cerebellar ataxia"} {"id": "Orphanet_1248", "parentIds": ["Orphanet_156237", "Orphanet_90642"], "name": "Maxillonasal dysplasia"} {"id": "Orphanet_1256", "parentIds": ["Orphanet_404577", "Orphanet_98577", "Orphanet_404571", "Orphanet_108987"], "name": "Blepharophimosis - radioulnar synostosis"} @@ -23341,26 +26300,26 @@ {"id": "Orphanet_1299", "parentIds": ["Orphanet_183763", "Orphanet_156622", "Orphanet_183530"], "name": "Branchio-skeleto-genital syndrome"} {"id": "Orphanet_13", "parentIds": ["Orphanet_238583"], "name": "6-pyruvoyl-tetrahydropterin synthase deficiency"} {"id": "Orphanet_1325", "parentIds": ["Orphanet_404577"], "name": "Camptodactyly - taurinuria"} -{"id": "Orphanet_1331", "parentIds": ["Orphanet_271844", "MONDO_0023122"], "name": "Familial prostate cancer"} +{"id": "Orphanet_1331", "parentIds": ["Orphanet_271844", "EFO_1000363", "EFO_0001663"], "name": "Familial prostate cancer"} {"id": "Orphanet_1334", "parentIds": ["Orphanet_183494", "Orphanet_183710"], "name": "Chronic mucocutaneous candidosis"} {"id": "Orphanet_1335", "parentIds": ["Orphanet_183530"], "name": "Cantrell pentalogy"} {"id": "Orphanet_1338", "parentIds": ["Orphanet_183530"], "name": "Heart defect-tongue hamartoma-polysyndactyly syndrome"} -{"id": "Orphanet_1344", "parentIds": ["Orphanet_98054", "EFO_0002945"], "name": "Atrial stand still"} +{"id": "Orphanet_1344", "parentIds": ["Orphanet_98054", "EFO_0000318"], "name": "Atrial stand still"} {"id": "Orphanet_1345", "parentIds": ["Orphanet_217619"], "name": "Cardiomyopathy - cataract - hip spine disease"} {"id": "Orphanet_135", "parentIds": ["Orphanet_71859"], "name": "CACH syndrome"} {"id": "Orphanet_1354", "parentIds": ["Orphanet_183530"], "name": "Heart defects - limb shortening"} {"id": "Orphanet_1355", "parentIds": ["Orphanet_183530", "Orphanet_183763"], "name": "Heart defect - round face - congenital developmental delay"} {"id": "Orphanet_1358", "parentIds": ["Orphanet_330197", "Orphanet_156237"], "name": "Carey-Fineman-Ziter syndrome"} -{"id": "Orphanet_136", "parentIds": ["Orphanet_371439", "MONDO_0957003", "EFO_0000677"], "name": "CADASIL"} +{"id": "Orphanet_136", "parentIds": ["Orphanet_371439", "EFO_0000677"], "name": "CADASIL"} {"id": "Orphanet_1368", "parentIds": ["Orphanet_90642", "Orphanet_183518"], "name": "Cataract - ataxia - deafness"} {"id": "Orphanet_1369", "parentIds": ["Orphanet_79200", "Orphanet_183530", "Orphanet_98647", "Orphanet_352312", "Orphanet_217587"], "name": "Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy"} {"id": "Orphanet_1373", "parentIds": ["Orphanet_98640", "Orphanet_108987"], "name": "Cataract - aberrant oral frenula - growth delay"} {"id": "Orphanet_1375", "parentIds": ["Orphanet_139027", "Orphanet_108987", "Orphanet_183763", "Orphanet_98640", "Orphanet_68346"], "name": "Cataract - hypertrichosis - intellectual disability"} {"id": "Orphanet_1376", "parentIds": ["Orphanet_98649", "Orphanet_281244", "Orphanet_108987"], "name": "Congenital cataract - ichthyosis"} -{"id": "Orphanet_137608", "parentIds": ["Orphanet_183487", "MONDO_0100118", "EFO_0009675"], "name": "Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus"} +{"id": "Orphanet_137608", "parentIds": ["Orphanet_183487", "EFO_0009675"], "name": "Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus"} {"id": "Orphanet_137622", "parentIds": ["Orphanet_363300"], "name": "Intractable diarrhea - choanal atresia - eye anomalies"} {"id": "Orphanet_137628", "parentIds": ["Orphanet_156532"], "name": "Cardiac anomalies - heterotaxy"} -{"id": "Orphanet_137631", "parentIds": ["Orphanet_183710", "Orphanet_264992", "Orphanet_325638", "Orphanet_325109"], "name": "Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis"} +{"id": "Orphanet_137631", "parentIds": ["Orphanet_183710", "Orphanet_264992", "Orphanet_325638", "MONDO_0021148", "Orphanet_325109"], "name": "Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis"} {"id": "Orphanet_137634", "parentIds": ["Orphanet_183573"], "name": "Overgrowth - macrocephaly - facial dysmorphism"} {"id": "Orphanet_137639", "parentIds": ["Orphanet_289494"], "name": "Leukoencephalopathy - ataxia - hypodontia - hypomyelination"} {"id": "Orphanet_137653", "parentIds": ["Orphanet_269528"], "name": "Microcephaly - digital anomalies - intellectual disability"} @@ -23394,26 +26353,26 @@ {"id": "Orphanet_139380", "parentIds": ["Orphanet_183651"], "name": "Recessive hereditary methemoglobinemia type 2"} {"id": "Orphanet_1394", "parentIds": ["Orphanet_93454"], "name": "Cerebro-facio-thoracic dysplasia"} {"id": "Orphanet_139441", "parentIds": ["Orphanet_71859"], "name": "Hypomyelination with atrophy of basal ganglia and cerebellum"} -{"id": "Orphanet_139450", "parentIds": ["Orphanet_108987", "MONDO_0020145"], "name": "Microtia - eye coloboma - imperforation of the nasolacrimal duct"} +{"id": "Orphanet_139450", "parentIds": ["Orphanet_108987"], "name": "Microtia - eye coloboma - imperforation of the nasolacrimal duct"} {"id": "Orphanet_139480", "parentIds": ["Orphanet_352306", "Orphanet_183500"], "name": "Autosomal recessive spastic paraplegia type 39"} {"id": "Orphanet_139518", "parentIds": ["Orphanet_71859"], "name": "Distal hereditary motor neuropathy type 1"} {"id": "Orphanet_139536", "parentIds": ["Orphanet_71859"], "name": "Distal hereditary motor neuropathy type 5"} {"id": "Orphanet_139583", "parentIds": ["Orphanet_71859"], "name": "X-linked hereditary sensory and autonomic neuropathy with deafness"} -{"id": "Orphanet_1396", "parentIds": ["Orphanet_183539", "MONDO_0100191"], "name": "Cerebro-reno-digital syndrome"} +{"id": "Orphanet_1396", "parentIds": ["Orphanet_183539", "EFO_0003086"], "name": "Cerebro-reno-digital syndrome"} {"id": "Orphanet_1397", "parentIds": ["MONDO_0020119"], "name": "Cerebellum agenesis - hydrocephaly"} {"id": "Orphanet_140162", "parentIds": ["EFO_0000508"], "name": "Inherited cancer-predisposing syndrome"} {"id": "Orphanet_140436", "parentIds": ["Orphanet_183524"], "name": "Primary intraosseous vascular malformation"} -{"id": "Orphanet_140462", "parentIds": ["Orphanet_71859", "MONDO_0024257"], "name": "X-linked recessive hereditary axonal motor and sensory neuropathy"} +{"id": "Orphanet_140462", "parentIds": ["Orphanet_71859", "EFO_0003782"], "name": "X-linked recessive hereditary axonal motor and sensory neuropathy"} {"id": "Orphanet_1408", "parentIds": ["Orphanet_68346", "Orphanet_183763"], "name": "Hair defect - photosensitivity - intellectual disability"} {"id": "Orphanet_1409", "parentIds": ["Orphanet_68346"], "name": "Woolly hair - hypotrichosis - everted lower lip - outstanding ears"} {"id": "Orphanet_140927", "parentIds": ["Orphanet_166475"], "name": "Benign familial neonatal-infantile seizures"} -{"id": "Orphanet_140944", "parentIds": ["EFO_0009675", "Orphanet_183487", "MONDO_0100118"], "name": "CLOVE syndrome"} +{"id": "Orphanet_140944", "parentIds": ["EFO_0009675", "Orphanet_183487"], "name": "CLOVE syndrome"} {"id": "Orphanet_140952", "parentIds": ["Orphanet_294959", "Orphanet_183545"], "name": "Syndactyly - telecanthus - anogenital and renal malformations"} {"id": "Orphanet_140963", "parentIds": ["Orphanet_90642", "Orphanet_156237"], "name": "Bilateral microtia - deafness - cleft palate"} {"id": "Orphanet_141000", "parentIds": ["Orphanet_183576", "Orphanet_294959", "Orphanet_156237"], "name": "Orofaciodigital syndrome type 11"} {"id": "Orphanet_141007", "parentIds": ["Orphanet_156237", "Orphanet_183576", "Orphanet_294959"], "name": "Orofaciodigital syndrome type 9"} -{"id": "Orphanet_1414", "parentIds": ["Orphanet_156601", "MONDO_0100118"], "name": "Cholestasis-lymphedema syndrome"} -{"id": "Orphanet_1422", "parentIds": ["Orphanet_98087", "Orphanet_364536", "Orphanet_325638"], "name": "Chondrodysplasia - disorder of sex development"} +{"id": "Orphanet_1414", "parentIds": ["Orphanet_156601", "EFO_0000701"], "name": "Cholestasis-lymphedema syndrome"} +{"id": "Orphanet_1422", "parentIds": ["EFO_0003820", "Orphanet_98087", "Orphanet_364536", "Orphanet_325638", "MONDO_0021148"], "name": "Chondrodysplasia - disorder of sex development"} {"id": "Orphanet_1425", "parentIds": ["Orphanet_139030", "Orphanet_364526"], "name": "Desbuquois syndrome"} {"id": "Orphanet_1428", "parentIds": ["Orphanet_404584", "Orphanet_183524"], "name": "Familial chondromalacia patellae"} {"id": "Orphanet_1429", "parentIds": ["MONDO_0015548", "Orphanet_306719"], "name": "Benign familial chorea"} @@ -23421,7 +26380,7 @@ {"id": "Orphanet_1434", "parentIds": ["Orphanet_98662"], "name": "Choroideremia - hypopituitarism"} {"id": "Orphanet_1435", "parentIds": ["Orphanet_90642", "Orphanet_240371", "Orphanet_98662"], "name": "Choroideremia - deafness - obesity"} {"id": "Orphanet_1436", "parentIds": ["Orphanet_183545", "Orphanet_364526", "MONDO_0020119"], "name": "Skeletal dysplasia - intellectual disability"} -{"id": "Orphanet_145", "parentIds": ["EFO_0005771", "EFO_1001331", "Orphanet_227535"], "name": "Hereditary breast and ovarian cancer syndrome"} +{"id": "Orphanet_145", "parentIds": ["MONDO_0008170", "Orphanet_227535", "MONDO_0002229"], "name": "Hereditary breast and ovarian cancer syndrome"} {"id": "Orphanet_1454", "parentIds": ["Orphanet_269567", "Orphanet_330197", "MONDO_0015369"], "name": "Joubert syndrome with hepatic defect"} {"id": "Orphanet_1460", "parentIds": ["Orphanet_183530", "Orphanet_79200"], "name": "Isolated CoQ-cytochrome C reductase deficiency"} {"id": "Orphanet_1471", "parentIds": ["MONDO_0019118"], "name": "Coloboma of macula - brachydactyly type B"} @@ -23461,7 +26420,7 @@ {"id": "Orphanet_156638", "parentIds": ["EFO_0001379", "EFO_0000508"], "name": "Rare genetic endocrine disease"} {"id": "Orphanet_1568", "parentIds": ["Orphanet_269567", "Orphanet_85317"], "name": "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures"} {"id": "Orphanet_1573", "parentIds": ["Orphanet_68346", "Orphanet_98666", "Orphanet_139027"], "name": "Hypotrichosis with juvenile macular degeneration"} -{"id": "Orphanet_1574", "parentIds": ["Orphanet_71862", "Orphanet_183557"], "name": "Retinal degeneration - nanophthalmos - glaucoma"} +{"id": "Orphanet_1574", "parentIds": ["Orphanet_98657", "Orphanet_183557"], "name": "Retinal degeneration - nanophthalmos - glaucoma"} {"id": "Orphanet_1578", "parentIds": ["Orphanet_238583"], "name": "Dehydratase deficiency"} {"id": "Orphanet_157962", "parentIds": ["Orphanet_183557"], "name": "Oculoauricular syndrome, Schorderet type"} {"id": "Orphanet_158", "parentIds": ["Orphanet_79174", "Orphanet_217616", "Orphanet_206634"], "name": "Systemic primary carnitine deficiency"} @@ -23475,7 +26434,7 @@ {"id": "Orphanet_16", "parentIds": ["Orphanet_98658"], "name": "Blue cone monochromatism"} {"id": "Orphanet_1606", "parentIds": ["Orphanet_217619", "Orphanet_98142"], "name": "1p36 deletion syndrome"} {"id": "Orphanet_163209", "parentIds": ["Orphanet_269553", "Orphanet_166478"], "name": "Non-syndromic cerebral malformation due to abnormal neuronal migration"} -{"id": "Orphanet_163631", "parentIds": ["Orphanet_101940", "MONDO_0015509", "Orphanet_79168"], "name": "Bile acid synthesis defect with cholestasis and malabsorption"} +{"id": "Orphanet_163631", "parentIds": ["Orphanet_79168", "Orphanet_101940", "EFO_0009534"], "name": "Bile acid synthesis defect with cholestasis and malabsorption"} {"id": "Orphanet_163649", "parentIds": ["Orphanet_156237", "Orphanet_183763", "Orphanet_253"], "name": "Spondyloepiphyseal dysplasia, Nishimura type"} {"id": "Orphanet_163681", "parentIds": ["Orphanet_183512"], "name": "Cortical dysplasia - focal epilepsy syndrome"} {"id": "Orphanet_163684", "parentIds": ["Orphanet_79188", "Orphanet_71859"], "name": "Leukoencephalopathy - dystonia - motor neuropathy"} @@ -23511,14 +26470,14 @@ {"id": "Orphanet_166475", "parentIds": ["Orphanet_183512"], "name": "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes"} {"id": "Orphanet_166478", "parentIds": ["Orphanet_183512"], "name": "Cerebral malformation with epilepsy"} {"id": "Orphanet_166487", "parentIds": ["Orphanet_183512"], "name": "Cerebral diseases of vascular origin with epilepsy"} -{"id": "Orphanet_167", "parentIds": ["Orphanet_183494", "MONDO_0019052", "Orphanet_98454", "Orphanet_331184", "Orphanet_207015", "Orphanet_183500", "Orphanet_183469", "Orphanet_331249", "Orphanet_98700"], "name": "Chédiak-Higashi syndrome"} +{"id": "Orphanet_167", "parentIds": ["Orphanet_183494", "Orphanet_98454", "Orphanet_331184", "MONDO_0004884", "Orphanet_207015", "Orphanet_183500", "EFO_0000589", "Orphanet_183469", "Orphanet_331249", "Orphanet_98700"], "name": "Chédiak-Higashi syndrome"} {"id": "Orphanet_167762", "parentIds": ["Orphanet_77830"], "name": "Rare disease with dentinogenesis imperfecta"} {"id": "Orphanet_168443", "parentIds": ["Orphanet_253"], "name": "Spondyloepimetaphyseal dysplasia - hypotrichosis"} {"id": "Orphanet_168451", "parentIds": ["Orphanet_253"], "name": "Spondyloepimetaphyseal dysplasia - abnormal dentition"} -{"id": "Orphanet_168486", "parentIds": ["Orphanet_98261", "Orphanet_183500", "Orphanet_68366", "Orphanet_98666", "Orphanet_98713"], "name": "Congenital neuronal ceroid lipofuscinosis"} +{"id": "Orphanet_168486", "parentIds": ["Orphanet_98261", "Orphanet_183500", "Orphanet_68366", "Orphanet_98666", "MONDO_0004884", "Orphanet_98713"], "name": "Congenital neuronal ceroid lipofuscinosis"} {"id": "Orphanet_168552", "parentIds": ["Orphanet_364526"], "name": "Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism"} {"id": "Orphanet_168558", "parentIds": ["Orphanet_90786", "Orphanet_101960"], "name": "46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency"} -{"id": "Orphanet_168563", "parentIds": ["Orphanet_325638", "Orphanet_98087"], "name": "46,XY gonadal dysgenesis - motor and sensory neuropathy"} +{"id": "Orphanet_168563", "parentIds": ["Orphanet_325638", "MONDO_0021148", "Orphanet_98087"], "name": "46,XY gonadal dysgenesis - motor and sensory neuropathy"} {"id": "Orphanet_168566", "parentIds": ["Orphanet_35696"], "name": "Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3"} {"id": "Orphanet_168572", "parentIds": ["Orphanet_206634", "Orphanet_156237"], "name": "Native American myopathy"} {"id": "Orphanet_168588", "parentIds": ["EFO_0009549", "Orphanet_183637"], "name": "Hyperandrogenism due to cortisone reductase deficiency"} @@ -23537,20 +26496,19 @@ {"id": "Orphanet_169443", "parentIds": ["MONDO_0003778"], "name": "Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells"} {"id": "Orphanet_169446", "parentIds": ["MONDO_0021094"], "name": "Autosomal recessive hyper-IgE syndrome"} {"id": "Orphanet_17", "parentIds": ["Orphanet_2443", "Orphanet_104013", "Orphanet_98695", "Orphanet_206966"], "name": "Fatal infantile lactic acidosis with methylmalonic aciduria"} -{"id": "Orphanet_170", "parentIds": ["Orphanet_79366"], "name": "Woolly hair"} {"id": "Orphanet_171445", "parentIds": ["Orphanet_206634"], "name": "Muscle filaminopathy"} -{"id": "Orphanet_171607", "parentIds": ["MONDO_0017912"], "name": "X-linked spastic paraplegia type 34"} +{"id": "Orphanet_171607", "parentIds": ["Orphanet_183500"], "name": "X-linked spastic paraplegia type 34"} {"id": "Orphanet_171612", "parentIds": ["Orphanet_183500"], "name": "Autosomal dominant spastic paraplegia type 37"} {"id": "Orphanet_171617", "parentIds": ["Orphanet_183500"], "name": "Autosomal dominant spastic paraplegia type 38"} {"id": "Orphanet_171622", "parentIds": ["Orphanet_183500"], "name": "Autosomal recessive spastic paraplegia type 32"} {"id": "Orphanet_171629", "parentIds": ["Orphanet_183500"], "name": "Autosomal recessive spastic paraplegia type 35"} {"id": "Orphanet_171703", "parentIds": ["Orphanet_269573", "Orphanet_183763"], "name": "Microcephaly - polymicrogyria - corpus callosum agenesis"} {"id": "Orphanet_171719", "parentIds": ["Orphanet_139030"], "name": "Cutis laxa-Marfanoid syndrome"} -{"id": "Orphanet_171723", "parentIds": ["Orphanet_183487", "MONDO_0100118", "EFO_0009675"], "name": "White sponge nevus"} +{"id": "Orphanet_171723", "parentIds": ["Orphanet_183487", "EFO_0009675"], "name": "White sponge nevus"} {"id": "Orphanet_171836", "parentIds": ["Orphanet_164001"], "name": "Amelogenesis imperfecta and gingival hyperplasia syndrome"} {"id": "Orphanet_171839", "parentIds": ["Orphanet_183542", "Orphanet_404584", "Orphanet_183524"], "name": "Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis"} {"id": "Orphanet_171844", "parentIds": ["Orphanet_139030", "Orphanet_101435"], "name": "Blindness-scoliosis-arachnodactyly syndrome"} -{"id": "Orphanet_171848", "parentIds": ["Orphanet_71862", "Orphanet_207015", "Orphanet_90642", "Orphanet_352309"], "name": "Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract"} +{"id": "Orphanet_171848", "parentIds": ["Orphanet_207015", "Orphanet_90642", "Orphanet_352309", "Orphanet_98657"], "name": "Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract"} {"id": "Orphanet_171860", "parentIds": ["Orphanet_98640", "Orphanet_183763"], "name": "Intellectual disability - cataracts - kyphosis"} {"id": "Orphanet_171863", "parentIds": ["Orphanet_183500"], "name": "Autosomal dominant spastic paraplegia type 42"} {"id": "Orphanet_171871", "parentIds": ["Orphanet_183592"], "name": "Renal pseudohypoaldosteronism type 1"} @@ -23558,14 +26516,14 @@ {"id": "Orphanet_1727", "parentIds": ["Orphanet_98132"], "name": "22q11.2 microduplication syndrome"} {"id": "Orphanet_174", "parentIds": ["Orphanet_364526"], "name": "Metaphyseal chondrodysplasia, Schmid type"} {"id": "Orphanet_1757", "parentIds": ["Orphanet_294959"], "name": "Fibular dimelia - diplopodia"} -{"id": "Orphanet_1764", "parentIds": ["Orphanet_71859", "MONDO_0019276", "Orphanet_98602", "MONDO_0957003"], "name": "Familial dysautonomia"} +{"id": "Orphanet_1764", "parentIds": ["Orphanet_71859", "MONDO_0019276", "Orphanet_98602"], "name": "Familial dysautonomia"} {"id": "Orphanet_1765", "parentIds": ["Orphanet_364526", "Orphanet_183539"], "name": "Dyschondrosteosis - nephritis"} -{"id": "Orphanet_1766", "parentIds": ["Orphanet_98693", "Orphanet_183518", "MONDO_0957003", "Orphanet_98539"], "name": "Dysequilibrium syndrome"} -{"id": "Orphanet_1770", "parentIds": ["Orphanet_325638", "Orphanet_98087"], "name": "Gonadal dysgenesis, XY type - associated anomalies"} +{"id": "Orphanet_1766", "parentIds": ["Orphanet_98693", "Orphanet_183518", "Orphanet_98539"], "name": "Dysequilibrium syndrome"} +{"id": "Orphanet_1770", "parentIds": ["Orphanet_325638", "Orphanet_98087", "MONDO_0021148"], "name": "Gonadal dysgenesis, XY type - associated anomalies"} {"id": "Orphanet_1778", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Facial dysmorphism - shawl scrotum - joint laxity"} {"id": "Orphanet_1779", "parentIds": ["Orphanet_156237"], "name": "Dysmorphism - cleft palate - loose skin"} {"id": "Orphanet_178025", "parentIds": ["Orphanet_183628"], "name": "Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations"} -{"id": "Orphanet_178333", "parentIds": ["Orphanet_71862"], "name": "Åland Islands eye disease"} +{"id": "Orphanet_178333", "parentIds": ["Orphanet_98657"], "name": "Åland Islands eye disease"} {"id": "Orphanet_178389", "parentIds": ["Orphanet_364526", "Orphanet_331244"], "name": "Osteopetrosis - hypogammaglobulinemia"} {"id": "Orphanet_1784", "parentIds": ["Orphanet_364571", "Orphanet_69028"], "name": "Acro-fronto-facio-nasal dysostosis"} {"id": "Orphanet_178464", "parentIds": ["Orphanet_206634"], "name": "Hereditary proximal myopathy with early respiratory failure"} @@ -23583,7 +26541,7 @@ {"id": "Orphanet_181390", "parentIds": ["Orphanet_399983", "Orphanet_399839", "Orphanet_183628"], "name": "Hypogonadotropic hypogonadism associated with other endocrinopathies"} {"id": "Orphanet_181396", "parentIds": ["Orphanet_183631", "EFO_0004705"], "name": "Rare hypothyroidism"} {"id": "Orphanet_181399", "parentIds": ["EFO_0009189", "Orphanet_183631"], "name": "Rare hyperthyroidism"} -{"id": "Orphanet_181402", "parentIds": ["Orphanet_183634", "MONDO_0016165"], "name": "Syndrome with hypoparathyroidism"} +{"id": "Orphanet_181402", "parentIds": ["Orphanet_183634", "EFO_0009451"], "name": "Syndrome with hypoparathyroidism"} {"id": "Orphanet_181422", "parentIds": ["Orphanet_101953"], "name": "Rare hyperlipidemia"} {"id": "Orphanet_181431", "parentIds": ["Orphanet_101953"], "name": "Rare hypolipidemia"} {"id": "Orphanet_181437", "parentIds": ["Orphanet_101953"], "name": "Rare syndromic dyslipidemia"} @@ -23610,7 +26568,7 @@ {"id": "Orphanet_183490", "parentIds": ["Orphanet_68346"], "name": "Genetic photodermatosis"} {"id": "Orphanet_183494", "parentIds": ["Orphanet_68346"], "name": "Genetic immune deficiency with skin involvement"} {"id": "Orphanet_183497", "parentIds": ["Orphanet_71859", "EFO_0002970"], "name": "Genetic neuromuscular disease"} -{"id": "Orphanet_183500", "parentIds": ["Orphanet_71859", "MONDO_0024237"], "name": "Genetic neurodegenerative disease"} +{"id": "Orphanet_183500", "parentIds": ["Orphanet_71859", "EFO_0005772"], "name": "Genetic neurodegenerative disease"} {"id": "Orphanet_183506", "parentIds": ["Orphanet_71859", "Orphanet_183530"], "name": "Genetic central nervous system malformation"} {"id": "Orphanet_183509", "parentIds": ["Orphanet_71859", "EFO_0009550"], "name": "Rare genetic headache"} {"id": "Orphanet_183512", "parentIds": ["Orphanet_71859"], "name": "Rare genetic epilepsy"} @@ -23618,7 +26576,7 @@ {"id": "Orphanet_183518", "parentIds": ["Orphanet_71859"], "name": "Rare hereditary ataxia"} {"id": "Orphanet_183521", "parentIds": ["Orphanet_71859", "EFO_0004280"], "name": "Rare genetic movement disorder"} {"id": "Orphanet_183524", "parentIds": ["EFO_0004260", "EFO_0000508"], "name": "Rare genetic bone disease"} -{"id": "Orphanet_183527", "parentIds": ["Orphanet_68336", "EFO_0004260"], "name": "Genetic bone tumor"} +{"id": "Orphanet_183527", "parentIds": ["Orphanet_68336", "EFO_0003820"], "name": "Genetic bone tumor"} {"id": "Orphanet_183530", "parentIds": ["EFO_0000508"], "name": "Rare genetic developmental defect during embryogenesis"} {"id": "Orphanet_183536", "parentIds": ["Orphanet_183530"], "name": "Genetic congenital limb malformation"} {"id": "Orphanet_183539", "parentIds": ["Orphanet_98056", "Orphanet_183530"], "name": "Genetic renal or urinary tract malformation"} @@ -23631,17 +26589,17 @@ {"id": "Orphanet_183573", "parentIds": ["Orphanet_183530"], "name": "Genetic overgrowth/obesity syndrome"} {"id": "Orphanet_183576", "parentIds": ["Orphanet_183530"], "name": "Genetic branchial arch or oral-acral syndrome"} {"id": "Orphanet_183580", "parentIds": ["Orphanet_183530"], "name": "Genetic malformation syndrome with odontal and/or periodontal component"} -{"id": "Orphanet_183586", "parentIds": ["Orphanet_98056", "EFO_1002049", "MONDO_0100191"], "name": "Genetic glomerular disease"} +{"id": "Orphanet_183586", "parentIds": ["Orphanet_98056", "EFO_1002049"], "name": "Genetic glomerular disease"} {"id": "Orphanet_183589", "parentIds": ["Orphanet_98056"], "name": "Genetic thrombotic microangiopathy"} {"id": "Orphanet_183592", "parentIds": ["Orphanet_98056"], "name": "Genetic renal tubular disease"} -{"id": "Orphanet_183595", "parentIds": ["Orphanet_68336", "EFO_0009690"], "name": "Genetic renal tumor"} +{"id": "Orphanet_183595", "parentIds": ["Orphanet_68336", "MONDO_0021066"], "name": "Genetic renal tumor"} {"id": "Orphanet_183598", "parentIds": ["Orphanet_101435"], "name": "Rare genetic palpebral, lacrimal system and conjunctival disease"} {"id": "Orphanet_183601", "parentIds": ["Orphanet_101435"], "name": "Rare genetic refraction anomaly"} {"id": "Orphanet_183607", "parentIds": ["Orphanet_101435"], "name": "Genetic lens and zonula anomaly"} {"id": "Orphanet_183616", "parentIds": ["Orphanet_101435"], "name": "Genetic neuro-ophthalmological disease"} -{"id": "Orphanet_183619", "parentIds": ["Orphanet_68336", "EFO_0003966"], "name": "Genetic eye tumor"} +{"id": "Orphanet_183619", "parentIds": ["Orphanet_68336", "EFO_0003824"], "name": "Genetic eye tumor"} {"id": "Orphanet_183622", "parentIds": ["Orphanet_156610"], "name": "Genetic respiratory malformation"} -{"id": "Orphanet_183625", "parentIds": ["Orphanet_156638", "EFO_1001511"], "name": "Rare genetic diabetes mellitus"} +{"id": "Orphanet_183625", "parentIds": ["Orphanet_156638", "EFO_0000400"], "name": "Rare genetic diabetes mellitus"} {"id": "Orphanet_183628", "parentIds": ["Orphanet_156638"], "name": "Rare genetic hypothalamic or pituitary disease"} {"id": "Orphanet_183631", "parentIds": ["Orphanet_156638", "EFO_1000627"], "name": "Rare genetic thyroid disease"} {"id": "Orphanet_183634", "parentIds": ["Orphanet_156638"], "name": "Rare genetic parathyroid disease and phosphocalcic metabolism disorder"} @@ -23651,7 +26609,7 @@ {"id": "Orphanet_183654", "parentIds": ["Orphanet_158300"], "name": "Rare genetic coagulation disorder"} {"id": "Orphanet_183678", "parentIds": ["Orphanet_331184", "Orphanet_98666", "MONDO_0019312", "Orphanet_331249"], "name": "Hermansky-Pudlak syndrome with neutropenia"} {"id": "Orphanet_183710", "parentIds": ["Orphanet_101988"], "name": "Genetic susceptibility to infections due to particular pathogens"} -{"id": "Orphanet_183734", "parentIds": ["Orphanet_68336", "EFO_0009549"], "name": "Genetic gynecological tumor"} +{"id": "Orphanet_183734", "parentIds": ["Orphanet_68336", "MONDO_0021148"], "name": "Genetic gynecological tumor"} {"id": "Orphanet_183757", "parentIds": ["Orphanet_71859"], "name": "Rare genetic intellectual disability"} {"id": "Orphanet_183763", "parentIds": ["Orphanet_183757"], "name": "Rare genetic intellectual disability with developmental anomaly"} {"id": "Orphanet_183770", "parentIds": ["EFO_0000540", "EFO_0000508"], "name": "Rare genetic immune disease"} @@ -23660,13 +26618,13 @@ {"id": "Orphanet_1856", "parentIds": ["Orphanet_253", "Orphanet_93421"], "name": "Spondyloperipheral dysplasia - short ulna"} {"id": "Orphanet_1858", "parentIds": ["Orphanet_69028", "Orphanet_183763"], "name": "Skeletal dysplasia - epilepsy - short stature"} {"id": "Orphanet_1865", "parentIds": ["Orphanet_364803", "Orphanet_253"], "name": "Dyssegmental dysplasia, Silverman-Handmaker type"} -{"id": "Orphanet_1871", "parentIds": ["Orphanet_71862"], "name": "Progressive cone dystrophy"} +{"id": "Orphanet_1871", "parentIds": ["Orphanet_98657"], "name": "Progressive cone dystrophy"} {"id": "Orphanet_1872", "parentIds": ["Orphanet_98666"], "name": "Cone rod dystrophy"} {"id": "Orphanet_1875", "parentIds": ["Orphanet_206634"], "name": "Congenital muscular dystrophy - infantile cataract - hypogonadism"} {"id": "Orphanet_1877", "parentIds": ["Orphanet_206634"], "name": "Muscular dystrophy - white matter spongiosis"} {"id": "Orphanet_1882", "parentIds": ["Orphanet_68346", "Orphanet_181396", "Orphanet_139027"], "name": "Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia"} {"id": "Orphanet_1883", "parentIds": ["Orphanet_90642", "Orphanet_68346", "Orphanet_139027"], "name": "Ectodermal dysplasia - sensorineural deafness"} -{"id": "Orphanet_1884", "parentIds": ["Orphanet_71862", "Orphanet_183607"], "name": "Ectopia lentis - chorioretinal dystrophy - myopia"} +{"id": "Orphanet_1884", "parentIds": ["Orphanet_98657", "Orphanet_183607"], "name": "Ectopia lentis - chorioretinal dystrophy - myopia"} {"id": "Orphanet_1891", "parentIds": ["Orphanet_183763"], "name": "Intellectual disability - spasticity - ectrodactyly"} {"id": "Orphanet_1892", "parentIds": ["Orphanet_294959"], "name": "Ectrodactyly - polydactyly"} {"id": "Orphanet_1899", "parentIds": ["MONDO_0020066"], "name": "Ehlers-Danlos syndrome, arthrochalasic type"} @@ -23675,7 +26633,7 @@ {"id": "Orphanet_1940", "parentIds": ["Orphanet_404574"], "name": "Shoulder and thorax deformity - congenital heart disease"} {"id": "Orphanet_1945", "parentIds": ["Orphanet_182083", "Orphanet_166475"], "name": "Rolandic epilepsy"} {"id": "Orphanet_1946", "parentIds": ["Orphanet_68346", "Orphanet_183580", "Orphanet_139027"], "name": "Amelo-cerebro-hypohidrotic syndrome"} -{"id": "Orphanet_1947", "parentIds": ["Orphanet_68366", "Orphanet_166472", "Orphanet_183500", "Orphanet_98713", "Orphanet_98666", "Orphanet_98261"], "name": "Progressive epilepsy - intellectual disability, Finnish type"} +{"id": "Orphanet_1947", "parentIds": ["Orphanet_68366", "Orphanet_166472", "Orphanet_183500", "Orphanet_98713", "Orphanet_98666", "MONDO_0004884", "Orphanet_98261"], "name": "Progressive epilepsy - intellectual disability, Finnish type"} {"id": "Orphanet_1948", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Epilepsy - microcephaly - skeletal dysplasia"} {"id": "Orphanet_1949", "parentIds": ["Orphanet_182083", "EFO_0010238", "Orphanet_166475"], "name": "Benign familial neonatal seizures"} {"id": "Orphanet_1951", "parentIds": ["Orphanet_183763", "Orphanet_183530", "Orphanet_183512"], "name": "Epilepsy telangiectasia"} @@ -23688,7 +26646,7 @@ {"id": "Orphanet_199348", "parentIds": ["Orphanet_309827", "Orphanet_166472", "EFO_0005596"], "name": "Thiamine-responsive encephalopathy"} {"id": "Orphanet_199351", "parentIds": ["MONDO_0017998", "Orphanet_307055", "Orphanet_391799"], "name": "Adult-onset dystonia-parkinsonism"} {"id": "Orphanet_199354", "parentIds": ["Orphanet_71859"], "name": "CARASIL"} -{"id": "Orphanet_1995", "parentIds": ["Orphanet_71862", "Orphanet_156237"], "name": "Cleft lip - retinopathy"} +{"id": "Orphanet_1995", "parentIds": ["Orphanet_98657", "Orphanet_156237"], "name": "Cleft lip - retinopathy"} {"id": "Orphanet_1997", "parentIds": ["Orphanet_183580", "Orphanet_139027", "Orphanet_68346", "Orphanet_98560", "Orphanet_156237"], "name": "Blepharo-cheilo-odontic syndrome"} {"id": "Orphanet_2001", "parentIds": ["Orphanet_156237"], "name": "Cleft lip/palate - intestinal malrotation - cardiopathy"} {"id": "Orphanet_2003", "parentIds": ["Orphanet_90642", "Orphanet_156237"], "name": "Cleft lip/palate - deafness - sacral lipoma"} @@ -23700,7 +26658,7 @@ {"id": "Orphanet_2025", "parentIds": ["Orphanet_183580"], "name": "Gingival fibromatosis - facial dysmorphism"} {"id": "Orphanet_2027", "parentIds": ["Orphanet_183580", "Orphanet_90642"], "name": "Gingival fibromatosis - progressive deafness"} {"id": "Orphanet_2029", "parentIds": ["Orphanet_364526"], "name": "Multiple non-ossifying fibromatosis"} -{"id": "Orphanet_2031", "parentIds": ["Orphanet_183763", "MONDO_0100191", "Orphanet_98056", "Orphanet_156601"], "name": "Hepatic fibrosis - renal cysts - intellectual disability"} +{"id": "Orphanet_2031", "parentIds": ["EFO_0003086", "Orphanet_183763", "Orphanet_98056", "Orphanet_156601"], "name": "Hepatic fibrosis - renal cysts - intellectual disability"} {"id": "Orphanet_2042", "parentIds": ["Orphanet_96333", "Orphanet_183622", "Orphanet_183554", "Orphanet_156622"], "name": "Tracheo-esophageal fistula - hypospadias"} {"id": "Orphanet_2053", "parentIds": ["Orphanet_404577", "MONDO_0015161", "MONDO_0019942", "MONDO_0002320", "EFO_0003857"], "name": "Freeman-Sheldon syndrome"} {"id": "Orphanet_2057", "parentIds": ["Orphanet_98577", "Orphanet_108987"], "name": "Blepharophimosis - ptosis - esotropia - syndactyly - short stature"} @@ -23728,7 +26686,7 @@ {"id": "Orphanet_2083", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Prominent glabella - microcephaly - hypogenitalism"} {"id": "Orphanet_2084", "parentIds": ["Orphanet_183607", "Orphanet_108987"], "name": "Glaucoma - ectopia - microspherophakia - stiff joints - short stature"} {"id": "Orphanet_2085", "parentIds": ["Orphanet_98638", "Orphanet_108987"], "name": "Glaucoma - sleep apnea"} -{"id": "Orphanet_208508", "parentIds": ["Orphanet_183518", "Orphanet_98693", "MONDO_0957003", "Orphanet_98540"], "name": "Autosomal dominant cerebellar ataxia type 2"} +{"id": "Orphanet_208508", "parentIds": ["Orphanet_183518", "Orphanet_98693", "Orphanet_98540"], "name": "Autosomal dominant cerebellar ataxia type 2"} {"id": "Orphanet_2087", "parentIds": ["Orphanet_183586"], "name": "Glomerulonephritis - sparse hair - telangiectasis"} {"id": "Orphanet_2089", "parentIds": ["Orphanet_308520"], "name": "Glycogen storage disease due to hepatic glycogen synthase deficiency"} {"id": "Orphanet_2091", "parentIds": ["Orphanet_183530"], "name": "Multinodular goiter - cystic kidney - polydactyly"} @@ -23755,7 +26713,7 @@ {"id": "Orphanet_217026", "parentIds": ["Orphanet_156532", "Orphanet_183570"], "name": "Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type"} {"id": "Orphanet_217031", "parentIds": ["Orphanet_77828"], "name": "Obesity due to MC3R deficiency"} {"id": "Orphanet_217049", "parentIds": ["Orphanet_98640"], "name": "Rare non-syndromic cataract"} -{"id": "Orphanet_217055", "parentIds": ["MONDO_0015626", "MONDO_0024257", "Orphanet_71859"], "name": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A"} +{"id": "Orphanet_217055", "parentIds": ["MONDO_0015626", "EFO_0003782", "Orphanet_71859"], "name": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A"} {"id": "Orphanet_2172", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Microcephaly - glomerulonephritis - marfanoid habitus"} {"id": "Orphanet_217330", "parentIds": ["Orphanet_183592"], "name": "Hyperuricemia - anemia - renal failure"} {"id": "Orphanet_217335", "parentIds": ["Orphanet_139030", "Orphanet_98560", "Orphanet_139027", "Orphanet_228215"], "name": "MACS syndrome"} @@ -23763,19 +26721,19 @@ {"id": "Orphanet_217346", "parentIds": ["Orphanet_98142", "Orphanet_183530"], "name": "19q13.11 microdeletion syndrome"} {"id": "Orphanet_217377", "parentIds": ["Orphanet_98159", "Orphanet_183530"], "name": "Microduplication Xp11.22-p11.23 syndrome"} {"id": "Orphanet_217385", "parentIds": ["Orphanet_183530", "Orphanet_98132"], "name": "17p13.3 microduplication syndrome"} -{"id": "Orphanet_217454", "parentIds": ["MONDO_0021181", "Orphanet_248361", "EFO_0009315", "Orphanet_399185"], "name": "Rare hereditary thrombophilia"} +{"id": "Orphanet_217454", "parentIds": ["Orphanet_399185", "Orphanet_248361", "EFO_0009315"], "name": "Rare hereditary thrombophilia"} {"id": "Orphanet_217563", "parentIds": ["Orphanet_100049", "EFO_0010238"], "name": "Neonatal acute respiratory distress with surfactant metabolism deficiency"} {"id": "Orphanet_217572", "parentIds": ["Orphanet_99739"], "name": "Glycogen storage disease with hypertrophic cardiomyopathy"} {"id": "Orphanet_217581", "parentIds": ["Orphanet_99739"], "name": "Lysosomal disease with hypertrophic cardiomyopathy"} {"id": "Orphanet_217587", "parentIds": ["Orphanet_99739"], "name": "Mitochondrial disease with hypertrophic cardiomyopathy"} {"id": "Orphanet_217591", "parentIds": ["Orphanet_99739"], "name": "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy"} {"id": "Orphanet_217595", "parentIds": ["Orphanet_99739"], "name": "Syndrome associated with hypertrophic cardiomyopathy"} -{"id": "Orphanet_217610", "parentIds": ["Orphanet_98054", "EFO_0002945"], "name": "Neuromuscular disease with dilated cardiomyopathy"} -{"id": "Orphanet_217613", "parentIds": ["Orphanet_98054", "EFO_0002945"], "name": "Mitochondrial disease with dilated cardiomyopathy"} -{"id": "Orphanet_217616", "parentIds": ["Orphanet_98054", "EFO_0002945"], "name": "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy"} -{"id": "Orphanet_217619", "parentIds": ["Orphanet_98054", "EFO_0002945"], "name": "Syndrome associated with dilated cardiomyopathy"} +{"id": "Orphanet_217610", "parentIds": ["Orphanet_98054", "EFO_0000318"], "name": "Neuromuscular disease with dilated cardiomyopathy"} +{"id": "Orphanet_217613", "parentIds": ["Orphanet_98054", "EFO_0000318"], "name": "Mitochondrial disease with dilated cardiomyopathy"} +{"id": "Orphanet_217616", "parentIds": ["Orphanet_98054", "EFO_0000318"], "name": "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy"} +{"id": "Orphanet_217619", "parentIds": ["Orphanet_98054", "EFO_0000318"], "name": "Syndrome associated with dilated cardiomyopathy"} {"id": "Orphanet_217622", "parentIds": ["Orphanet_217619"], "name": "Sensorineural deafness with dilated cardiomyopathy"} -{"id": "Orphanet_217638", "parentIds": ["Orphanet_98054", "EFO_0002945"], "name": "Lysosomal disease with restrictive cardiomyopathy"} +{"id": "Orphanet_217638", "parentIds": ["Orphanet_98054", "EFO_0000318"], "name": "Lysosomal disease with restrictive cardiomyopathy"} {"id": "Orphanet_2180", "parentIds": ["Orphanet_330197"], "name": "Hydrocephalus - costovertebral dysplasia - Sprengel anomaly"} {"id": "Orphanet_2181", "parentIds": ["Orphanet_183530"], "name": "Hydrocephaly - tall stature - joint laxity"} {"id": "Orphanet_2182", "parentIds": ["MONDO_0017140"], "name": "Hydrocephalus with stenosis of the aqueduct of Sylvius"} @@ -23785,7 +26743,7 @@ {"id": "Orphanet_2197", "parentIds": ["Orphanet_183592"], "name": "Idiopathic hypercalciuria"} {"id": "Orphanet_220448", "parentIds": ["Orphanet_220452"], "name": "Macrothrombocytopenia with mitral valve insufficiency"} {"id": "Orphanet_220452", "parentIds": ["Orphanet_275729"], "name": "Inherited giant platelet disorder"} -{"id": "Orphanet_220489", "parentIds": ["MONDO_0019052", "Orphanet_101940"], "name": "Rare hereditary hemochromatosis"} +{"id": "Orphanet_220489", "parentIds": ["EFO_0000589", "Orphanet_101940"], "name": "Rare hereditary hemochromatosis"} {"id": "Orphanet_2209", "parentIds": ["Orphanet_79190"], "name": "Maternal hyperphenylalaninemia"} {"id": "Orphanet_2211", "parentIds": ["Orphanet_183530", "Orphanet_156622"], "name": "Hypertelorism - hypospadias - polysyndactyly syndrome"} {"id": "Orphanet_221139", "parentIds": ["Orphanet_330197", "Orphanet_101972"], "name": "Combined immunodeficiency with facio-oculo-skeletal anomalies"} @@ -23799,9 +26757,9 @@ {"id": "Orphanet_2232", "parentIds": ["Orphanet_181441"], "name": "Primary hypergonadotropic hypogonadism - partial alopecia"} {"id": "Orphanet_2233", "parentIds": ["Orphanet_181441"], "name": "Hypogonadism - mitral valve prolapse - intellectual disability"} {"id": "Orphanet_2234", "parentIds": ["Orphanet_183530", "Orphanet_183763", "Orphanet_181441"], "name": "Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies"} -{"id": "Orphanet_2235", "parentIds": ["Orphanet_71862", "Orphanet_181387"], "name": "Hypogonadotropic hypogonadism - retinitis pigmentosa"} +{"id": "Orphanet_2235", "parentIds": ["Orphanet_98657", "Orphanet_181387"], "name": "Hypogonadotropic hypogonadism - retinitis pigmentosa"} {"id": "Orphanet_2237", "parentIds": ["Orphanet_98142", "Orphanet_90642", "Orphanet_183539", "Orphanet_181402"], "name": "Hypoparathyroidism - deafness - renal disease"} -{"id": "Orphanet_2238", "parentIds": ["Orphanet_98712", "Orphanet_183634", "MONDO_0016165"], "name": "Familial isolated hypoparathyroidism"} +{"id": "Orphanet_2238", "parentIds": ["Orphanet_98712", "Orphanet_183634", "EFO_0009451"], "name": "Familial isolated hypoparathyroidism"} {"id": "Orphanet_2249", "parentIds": ["Orphanet_404574"], "name": "Ulna hypoplasia - intellectual disability"} {"id": "Orphanet_2250", "parentIds": ["Orphanet_181387"], "name": "Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism"} {"id": "Orphanet_2251", "parentIds": ["Orphanet_404577"], "name": "Thumb deformity - alopecia - pigmentation anomaly"} @@ -23816,26 +26774,26 @@ {"id": "Orphanet_2271", "parentIds": ["Orphanet_281238"], "name": "Congenital ichthyosis - microcephalus - tetraplegia"} {"id": "Orphanet_2272", "parentIds": ["Orphanet_281244", "Orphanet_139027"], "name": "Ichthyosis - oral and digital anomalies"} {"id": "Orphanet_2274", "parentIds": ["Orphanet_281244", "Orphanet_183518"], "name": "Ichthyosis - hepatosplenomegaly - cerebellar degeneration"} -{"id": "Orphanet_227535", "parentIds": ["MONDO_0016419", "Orphanet_183734"], "name": "Hereditary breast cancer"} +{"id": "Orphanet_227535", "parentIds": ["MONDO_0002149", "Orphanet_183734", "EFO_0000305"], "name": "Hereditary breast cancer"} {"id": "Orphanet_2278", "parentIds": ["Orphanet_281244", "Orphanet_183539"], "name": "Ichthyosis - intellectual disability - dwarfism - renal impairment"} {"id": "Orphanet_228012", "parentIds": ["Orphanet_90642", "Orphanet_217595"], "name": "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy"} {"id": "Orphanet_228140", "parentIds": ["Orphanet_98054"], "name": "Idiopathic ventricular fibrillation, not Brugada type"} {"id": "Orphanet_228169", "parentIds": ["Orphanet_307055"], "name": "Autosomal dominant striatal neurodegeneration"} {"id": "Orphanet_228174", "parentIds": ["MONDO_0018993"], "name": "Autosomal dominant Charcot-Marie-Tooth disease type 2N"} {"id": "Orphanet_228190", "parentIds": ["Orphanet_156532", "Orphanet_404577", "Orphanet_404571"], "name": "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies"} -{"id": "Orphanet_2282", "parentIds": ["Orphanet_325638", "Orphanet_98087", "Orphanet_183763"], "name": "Dysmorphism - short stature - deafness - disorder of sex development"} +{"id": "Orphanet_2282", "parentIds": ["Orphanet_325638", "MONDO_0021148", "Orphanet_98087", "Orphanet_183763"], "name": "Dysmorphism - short stature - deafness - disorder of sex development"} {"id": "Orphanet_228215", "parentIds": ["MONDO_0019276"], "name": "Genetic dermis elastic tissue disorder"} -{"id": "Orphanet_228329", "parentIds": ["Orphanet_183500", "Orphanet_98261", "Orphanet_98713", "Orphanet_98666", "Orphanet_68366"], "name": "CLN1 disease"} +{"id": "Orphanet_228329", "parentIds": ["Orphanet_183500", "Orphanet_98261", "Orphanet_98713", "Orphanet_98666", "MONDO_0004884", "Orphanet_68366"], "name": "CLN1 disease"} {"id": "Orphanet_228337", "parentIds": ["Orphanet_168486"], "name": "CLN10 disease"} -{"id": "Orphanet_228340", "parentIds": ["Orphanet_98666", "Orphanet_98261", "Orphanet_98713", "Orphanet_183500", "Orphanet_68366"], "name": "CLN4A disease"} -{"id": "Orphanet_228343", "parentIds": ["Orphanet_98261", "Orphanet_98666", "Orphanet_68366", "Orphanet_183500", "Orphanet_98713"], "name": "CLN4B disease"} -{"id": "Orphanet_228346", "parentIds": ["Orphanet_68366", "Orphanet_183500", "Orphanet_98261", "Orphanet_98666", "Orphanet_98713"], "name": "CLN3 disease"} -{"id": "Orphanet_228349", "parentIds": ["Orphanet_183500", "Orphanet_68366", "Orphanet_98261", "Orphanet_98713", "Orphanet_98666"], "name": "CLN2 disease"} -{"id": "Orphanet_228354", "parentIds": ["Orphanet_183500", "Orphanet_68366", "Orphanet_98713", "Orphanet_98666", "Orphanet_98261"], "name": "CLN8 disease"} -{"id": "Orphanet_228357", "parentIds": ["Orphanet_183500", "Orphanet_98666", "Orphanet_68366", "Orphanet_98261", "Orphanet_98713"], "name": "CLN9 disease"} -{"id": "Orphanet_228360", "parentIds": ["Orphanet_98261", "Orphanet_98666", "Orphanet_98713", "Orphanet_183500", "Orphanet_68366"], "name": "CLN5 disease"} -{"id": "Orphanet_228363", "parentIds": ["Orphanet_98666", "Orphanet_98713", "Orphanet_68366", "Orphanet_98261", "Orphanet_183500"], "name": "CLN6 disease"} -{"id": "Orphanet_228366", "parentIds": ["Orphanet_98713", "Orphanet_183500", "Orphanet_98261", "Orphanet_68366", "Orphanet_98666"], "name": "CLN7 disease"} +{"id": "Orphanet_228340", "parentIds": ["Orphanet_98666", "Orphanet_98261", "Orphanet_98713", "Orphanet_183500", "Orphanet_68366", "MONDO_0004884"], "name": "CLN4A disease"} +{"id": "Orphanet_228343", "parentIds": ["Orphanet_98261", "Orphanet_98666", "Orphanet_68366", "Orphanet_183500", "Orphanet_98713", "MONDO_0004884"], "name": "CLN4B disease"} +{"id": "Orphanet_228346", "parentIds": ["Orphanet_68366", "Orphanet_183500", "Orphanet_98261", "Orphanet_98666", "Orphanet_98713", "MONDO_0004884"], "name": "CLN3 disease"} +{"id": "Orphanet_228349", "parentIds": ["Orphanet_183500", "Orphanet_68366", "MONDO_0004884", "Orphanet_98261", "Orphanet_98713", "Orphanet_98666"], "name": "CLN2 disease"} +{"id": "Orphanet_228354", "parentIds": ["Orphanet_183500", "Orphanet_68366", "Orphanet_98713", "Orphanet_98666", "MONDO_0004884", "Orphanet_98261"], "name": "CLN8 disease"} +{"id": "Orphanet_228357", "parentIds": ["MONDO_0004884", "Orphanet_183500", "Orphanet_98666", "Orphanet_68366", "Orphanet_98261", "Orphanet_98713"], "name": "CLN9 disease"} +{"id": "Orphanet_228360", "parentIds": ["Orphanet_98261", "Orphanet_98666", "MONDO_0004884", "Orphanet_98713", "Orphanet_183500", "Orphanet_68366"], "name": "CLN5 disease"} +{"id": "Orphanet_228363", "parentIds": ["Orphanet_98666", "Orphanet_98713", "MONDO_0004884", "Orphanet_68366", "Orphanet_98261", "Orphanet_183500"], "name": "CLN6 disease"} +{"id": "Orphanet_228366", "parentIds": ["Orphanet_98713", "MONDO_0004884", "Orphanet_183500", "Orphanet_98261", "Orphanet_68366", "Orphanet_98666"], "name": "CLN7 disease"} {"id": "Orphanet_228396", "parentIds": ["Orphanet_98602", "Orphanet_98577"], "name": "Ptosis - upper ocular movement limitation - absence of lacrimal punctum"} {"id": "Orphanet_228418", "parentIds": ["Orphanet_269528", "Orphanet_166472"], "name": "Microcephaly - seizures - developmental delay"} {"id": "Orphanet_228429", "parentIds": ["Orphanet_98054", "Orphanet_206634", "Orphanet_181368", "Orphanet_183484"], "name": "Generalized congenital lipodystrophy with myopathy"} @@ -23854,7 +26812,7 @@ {"id": "Orphanet_231401", "parentIds": ["EFO_1001996"], "name": "Alpha-thalassemia - myelodysplastic syndrome"} {"id": "Orphanet_231531", "parentIds": ["MONDO_0019312"], "name": "Hermansky-Pudlak syndrome type 7"} {"id": "Orphanet_231537", "parentIds": ["MONDO_0019312"], "name": "Hermansky-Pudlak syndrome type 8"} -{"id": "Orphanet_231556", "parentIds": ["Orphanet_183426", "Orphanet_139027", "MONDO_0019276"], "name": "Late-onset localized junctional epidermolysis bullosa - intellectual disability"} +{"id": "Orphanet_231556", "parentIds": ["Orphanet_183426", "Orphanet_139027", "EFO_1000690"], "name": "Late-onset localized junctional epidermolysis bullosa - intellectual disability"} {"id": "Orphanet_231742", "parentIds": ["Orphanet_183576"], "name": "Epibulbar lipodermoid - preauricular appendage - polythelia"} {"id": "Orphanet_2323", "parentIds": ["Orphanet_181402", "Orphanet_183530", "Orphanet_183763"], "name": "Sanjad-Sakati syndrome"} {"id": "Orphanet_2324", "parentIds": ["Orphanet_183763", "Orphanet_93446"], "name": "Kaler-Garrity-Stern syndrome"} @@ -23863,7 +26821,7 @@ {"id": "Orphanet_2337", "parentIds": ["Orphanet_183426"], "name": "Non-epidermolytic palmoplantar keratoderma"} {"id": "Orphanet_2339", "parentIds": ["Orphanet_79360", "MONDO_0020119"], "name": "Keratosis follicularis - dwarfism - cerebral atrophy"} {"id": "Orphanet_2349", "parentIds": ["Orphanet_181396"], "name": "Muscular pseudohypertrophy - hypothyroidism"} -{"id": "Orphanet_2363", "parentIds": ["Orphanet_294959", "MONDO_0020197", "Orphanet_183580"], "name": "Lacrimoauriculodentodigital syndrome"} +{"id": "Orphanet_2363", "parentIds": ["Orphanet_294959", "Orphanet_183580"], "name": "Lacrimoauriculodentodigital syndrome"} {"id": "Orphanet_2370", "parentIds": ["Orphanet_364526"], "name": "Larsen-like osseous dysplasia - short stature"} {"id": "Orphanet_2375", "parentIds": ["MONDO_0020119"], "name": "Laryngeal abductor paralysis - intellectual disability"} {"id": "Orphanet_2379", "parentIds": ["Orphanet_307055", "MONDO_0020119"], "name": "Early-onset parkinsonism - intellectual disability"} @@ -23879,20 +26837,20 @@ {"id": "Orphanet_2388", "parentIds": ["Orphanet_307058", "MONDO_0015548", "Orphanet_79360", "Orphanet_207018"], "name": "Choreoacanthocytosis"} {"id": "Orphanet_2390", "parentIds": ["Orphanet_331184"], "name": "Lichstenstein syndrome"} {"id": "Orphanet_240", "parentIds": ["Orphanet_364526"], "name": "Léri-Weill dyschondrosteosis"} -{"id": "Orphanet_240071", "parentIds": ["Orphanet_98685", "Orphanet_306708", "EFO_0000677", "Orphanet_276061", "EFO_0005815"], "name": "Classical progressive supranuclear palsy"} +{"id": "Orphanet_240071", "parentIds": ["Orphanet_98685", "Orphanet_306708", "EFO_0000677", "MONDO_0004884", "Orphanet_276061", "EFO_0005815"], "name": "Classical progressive supranuclear palsy"} {"id": "Orphanet_240085", "parentIds": ["Orphanet_99750"], "name": "Progressive supranuclear palsy - parkinsonism"} {"id": "Orphanet_240094", "parentIds": ["Orphanet_99750"], "name": "Progressive supranuclear palsy - pure akinesia with gait freezing"} {"id": "Orphanet_240103", "parentIds": ["Orphanet_99750"], "name": "Progressive supranuclear palsy - corticobasal syndrome"} {"id": "Orphanet_240112", "parentIds": ["Orphanet_99750"], "name": "Progressive supranuclear palsy - progressive non fluent aphasia"} {"id": "Orphanet_240371", "parentIds": ["Orphanet_77828"], "name": "Syndromic obesity"} {"id": "Orphanet_2405", "parentIds": ["Orphanet_90642"], "name": "Thickened earlobes - conductive deafness"} -{"id": "Orphanet_2407", "parentIds": ["MONDO_0019276", "Orphanet_263676", "Orphanet_183622", "Orphanet_139027", "Orphanet_183426", "Orphanet_183554"], "name": "LOC syndrome"} +{"id": "Orphanet_2407", "parentIds": ["EFO_1000690", "Orphanet_263676", "Orphanet_183622", "Orphanet_139027", "Orphanet_183426", "Orphanet_183554"], "name": "LOC syndrome"} {"id": "Orphanet_241", "parentIds": ["Orphanet_183466"], "name": "Dyschromatosis universalis"} {"id": "Orphanet_2410", "parentIds": ["Orphanet_98640", "Orphanet_181441", "Orphanet_108987"], "name": "Hypergonadotropic hypogonadism - cataract syndrome"} {"id": "Orphanet_2412", "parentIds": ["Orphanet_183530"], "name": "Dislocation of the hip - dysmorphism"} {"id": "Orphanet_2427", "parentIds": ["Orphanet_183530"], "name": "Macrocephaly - short stature - paraplegia"} {"id": "Orphanet_2429", "parentIds": ["Orphanet_183530", "Orphanet_183763", "Orphanet_183500"], "name": "Macrocephaly - spastic paraplegia - dysmorphism"} -{"id": "Orphanet_243", "parentIds": ["Orphanet_95710", "Orphanet_399877", "MONDO_0017961", "Orphanet_98074", "MONDO_0957024"], "name": "46,XX gonadal dysgenesis"} +{"id": "Orphanet_243", "parentIds": ["Orphanet_95710", "Orphanet_399877", "Orphanet_98074"], "name": "46,XX gonadal dysgenesis"} {"id": "Orphanet_2432", "parentIds": ["Orphanet_156237"], "name": "Macrosomia - microphthalmia - cleft palate"} {"id": "Orphanet_2435", "parentIds": ["Orphanet_183463"], "name": "Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability"} {"id": "Orphanet_2437", "parentIds": ["Orphanet_183763", "Orphanet_183530", "Orphanet_156622"], "name": "Split hand - urinary anomalies - spina bifida"} @@ -23905,10 +26863,10 @@ {"id": "Orphanet_2463", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Marfanoid habitus - intellectual disability, autosomal recessive"} {"id": "Orphanet_2464", "parentIds": ["Orphanet_183545"], "name": "Marfanoid syndrome, De Silva type"} {"id": "Orphanet_247", "parentIds": ["Orphanet_98054"], "name": "Arrhythmogenic right ventricular dysplasia"} -{"id": "Orphanet_247522", "parentIds": ["EFO_0003900", "Orphanet_156610", "Orphanet_71862"], "name": "Primary ciliary dyskinesia - retinitis pigmentosa"} +{"id": "Orphanet_247522", "parentIds": ["EFO_0003900", "Orphanet_98657", "Orphanet_156610"], "name": "Primary ciliary dyskinesia - retinitis pigmentosa"} {"id": "Orphanet_2476", "parentIds": ["Orphanet_156237"], "name": "Medeira-Dennis-Donnai syndrome"} -{"id": "Orphanet_247691", "parentIds": ["Orphanet_71862", "Orphanet_71859"], "name": "Retinal vasculopathy and cerebral leukodystrophy"} -{"id": "Orphanet_247790", "parentIds": ["Orphanet_101940", "MONDO_0019052"], "name": "FTH1-related iron overload"} +{"id": "Orphanet_247691", "parentIds": ["Orphanet_98657", "Orphanet_71859"], "name": "Retinal vasculopathy and cerebral leukodystrophy"} +{"id": "Orphanet_247790", "parentIds": ["Orphanet_101940", "EFO_0000589"], "name": "FTH1-related iron overload"} {"id": "Orphanet_247794", "parentIds": ["Orphanet_98640", "Orphanet_79161", "Orphanet_98056"], "name": "Juvenile cataract - microcornea - renal glucosuria"} {"id": "Orphanet_247820", "parentIds": ["Orphanet_139027", "Orphanet_294959", "Orphanet_68346"], "name": "Ectodermal dysplasia - syndactyly syndrome"} {"id": "Orphanet_247827", "parentIds": ["Orphanet_68346", "Orphanet_139027"], "name": "Ectodermal dysplasia - cutaneous syndactyly syndrome"} @@ -23921,12 +26879,12 @@ {"id": "Orphanet_2487", "parentIds": ["Orphanet_156622"], "name": "Lower limb deficiency - hypospadias"} {"id": "Orphanet_2489", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Upper limb defect - eye and ear abnormalities"} {"id": "Orphanet_2491", "parentIds": ["Orphanet_183530", "Orphanet_156622"], "name": "Müllerian duct anomalies - limb anomalies"} -{"id": "Orphanet_250165", "parentIds": ["Orphanet_158300", "MONDO_0001115"], "name": "Genetic polycythemia"} +{"id": "Orphanet_250165", "parentIds": ["Orphanet_158300", "EFO_0005804"], "name": "Genetic polycythemia"} {"id": "Orphanet_2502", "parentIds": ["Orphanet_364526", "Orphanet_183763", "Orphanet_90642"], "name": "Metaphyseal dysostosis - intellectual disability - conductive deafness"} {"id": "Orphanet_2504", "parentIds": ["Orphanet_364526"], "name": "Metaphyseal dysplasia - maxillary hypoplasia - brachydacty"} {"id": "Orphanet_250989", "parentIds": ["Orphanet_262001"], "name": "1q21.1 microdeletion syndrome"} {"id": "Orphanet_250994", "parentIds": ["Orphanet_98132"], "name": "1q21.1 microduplication syndrome"} -{"id": "Orphanet_2510", "parentIds": ["Orphanet_102010", "MONDO_0020147"], "name": "Micro syndrome"} +{"id": "Orphanet_2510", "parentIds": ["Orphanet_102010", "EFO_0700119", "Orphanet_183763", "Orphanet_183530"], "name": "Micro syndrome"} {"id": "Orphanet_251038", "parentIds": ["Orphanet_98132"], "name": "3q29 microduplication"} {"id": "Orphanet_251076", "parentIds": ["Orphanet_98132"], "name": "8p23.1 microduplication syndrome"} {"id": "Orphanet_2511", "parentIds": ["Orphanet_183763", "Orphanet_156237"], "name": "Microbrachycephaly - ptosis - cleft lip"} @@ -23939,7 +26897,7 @@ {"id": "Orphanet_251375", "parentIds": ["Orphanet_183651"], "name": "Sickle cell - hemoglobin E disease"} {"id": "Orphanet_2514", "parentIds": ["Orphanet_330197", "Orphanet_269553"], "name": "Autosomal dominant microcephaly"} {"id": "Orphanet_2515", "parentIds": ["Orphanet_217619", "Orphanet_183763", "Orphanet_269528"], "name": "Microcephaly - cardiomyopathy"} -{"id": "Orphanet_251523", "parentIds": ["Orphanet_101988", "MONDO_0019052"], "name": "Recurrent infections - inflammatory syndrome due to zinc metabolism disorder"} +{"id": "Orphanet_251523", "parentIds": ["Orphanet_101988", "EFO_0000589"], "name": "Recurrent infections - inflammatory syndrome due to zinc metabolism disorder"} {"id": "Orphanet_2516", "parentIds": ["Orphanet_183530", "Orphanet_156532"], "name": "Microcephaly - cardiac defect - lung malsegmentation"} {"id": "Orphanet_2519", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Microcephaly - seizures - intellectual disability - heart disease"} {"id": "Orphanet_2521", "parentIds": ["Orphanet_183763", "Orphanet_156237"], "name": "Microcephaly - cleft palate"} @@ -23950,9 +26908,9 @@ {"id": "Orphanet_2533", "parentIds": ["Orphanet_90642", "Orphanet_183530", "Orphanet_183763"], "name": "Microcephaly - deafness - intellectual disability"} {"id": "Orphanet_2535", "parentIds": ["Orphanet_108987"], "name": "Microcornea - corectopia - macular hypoplasia"} {"id": "Orphanet_2536", "parentIds": ["Orphanet_108987"], "name": "Microcornea - glaucoma - absent frontal sinuses"} -{"id": "Orphanet_2542", "parentIds": ["Orphanet_183557", "MONDO_0020147"], "name": "Isolated anophthalmia - microphthalmia"} +{"id": "Orphanet_2542", "parentIds": ["EFO_0700119", "Orphanet_183557"], "name": "Isolated anophthalmia - microphthalmia"} {"id": "Orphanet_2543", "parentIds": ["Orphanet_98640", "Orphanet_183557"], "name": "Microphthalmia - cataract"} -{"id": "Orphanet_254334", "parentIds": ["MONDO_0015626", "Orphanet_71859", "MONDO_0024257"], "name": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B"} +{"id": "Orphanet_254334", "parentIds": ["MONDO_0015626", "EFO_0003782", "Orphanet_71859"], "name": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B"} {"id": "Orphanet_254343", "parentIds": ["Orphanet_35696", "Orphanet_183518"], "name": "Autosomal recessive spastic ataxia - optic atrophy - dysarthria"} {"id": "Orphanet_254704", "parentIds": ["EFO_0000508"], "name": "Genetic hyperferritinemia without iron overload"} {"id": "Orphanet_254758", "parentIds": ["Orphanet_79200", "Orphanet_183530"], "name": "Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies"} @@ -23971,13 +26929,13 @@ {"id": "Orphanet_255132", "parentIds": ["Orphanet_183530", "Orphanet_79200", "Orphanet_98362"], "name": "Adult-onset autosomal recessive sideroblastic anemia"} {"id": "Orphanet_255235", "parentIds": ["Orphanet_2443", "Orphanet_104013", "Orphanet_206966", "Orphanet_98695"], "name": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"} {"id": "Orphanet_2554", "parentIds": ["Orphanet_183763", "Orphanet_183576", "Orphanet_269528", "Orphanet_364526", "Orphanet_330197"], "name": "Ear-patella-short stature syndrome"} -{"id": "Orphanet_2556", "parentIds": ["MONDO_0020147", "Orphanet_139027", "Orphanet_108987", "Orphanet_183545", "Orphanet_98638", "MONDO_0020119", "Orphanet_183481"], "name": "Microphthalmia with linear skin defects syndrome"} +{"id": "Orphanet_2556", "parentIds": ["Orphanet_139027", "Orphanet_108987", "EFO_0700119", "Orphanet_183545", "Orphanet_98638", "MONDO_0020119", "Orphanet_183481"], "name": "Microphthalmia with linear skin defects syndrome"} {"id": "Orphanet_2560", "parentIds": ["Orphanet_181387"], "name": "Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism"} {"id": "Orphanet_257", "parentIds": ["Orphanet_158665", "Orphanet_263676", "Orphanet_206634", "Orphanet_139027"], "name": "Epidermolysis bullosa simplex with muscular dystrophy"} {"id": "Orphanet_2572", "parentIds": ["Orphanet_101435", "Orphanet_183518", "EFO_0009464"], "name": "Spastic ataxia - corneal dystrophy"} {"id": "Orphanet_2575", "parentIds": ["Orphanet_165652", "EFO_0009544"], "name": "Cystic fibrosis - gastritis - megaloblastic anemia"} {"id": "Orphanet_2578", "parentIds": ["Orphanet_183545", "Orphanet_3109"], "name": "MURCS association"} -{"id": "Orphanet_2579", "parentIds": ["Orphanet_71862", "Orphanet_183518"], "name": "Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus"} +{"id": "Orphanet_2579", "parentIds": ["Orphanet_183518", "Orphanet_98657"], "name": "Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus"} {"id": "Orphanet_258", "parentIds": ["Orphanet_206634"], "name": "Congenital muscular dystrophy type 1A"} {"id": "Orphanet_2580", "parentIds": ["Orphanet_183763"], "name": "Shoulder and girdle defects - familial intellectual disability"} {"id": "Orphanet_2585", "parentIds": ["Orphanet_183515"], "name": "Ataxia - pancytopenia"} @@ -23987,10 +26945,10 @@ {"id": "Orphanet_2598", "parentIds": ["Orphanet_206966", "Orphanet_98362", "Orphanet_35696"], "name": "Mitochondrial myopathy and sideroblastic anemia"} {"id": "Orphanet_26", "parentIds": ["Orphanet_289899", "Orphanet_98396", "Orphanet_79171"], "name": "Methylmalonic acidemia with homocystinuria"} {"id": "Orphanet_2601", "parentIds": ["Orphanet_183763", "Orphanet_156622"], "name": "Myopathy - growth delay - intellectual disability - hypospadias"} -{"id": "Orphanet_26106", "parentIds": ["Orphanet_271835", "MONDO_0007648"], "name": "Familial gastric cancer"} +{"id": "Orphanet_26106", "parentIds": ["Orphanet_271835", "EFO_0000402"], "name": "Familial gastric cancer"} {"id": "Orphanet_261112", "parentIds": ["Orphanet_261929"], "name": "Monosomy 9p"} {"id": "Orphanet_261183", "parentIds": ["Orphanet_98142"], "name": "15q11.2 microdeletion syndrome"} -{"id": "Orphanet_2612", "parentIds": ["MONDO_0100118", "EFO_1000634", "EFO_0009675", "Orphanet_183487"], "name": "Linear nevus sebaceus syndrome"} +{"id": "Orphanet_2612", "parentIds": ["EFO_1000634", "EFO_0009675", "Orphanet_183487"], "name": "Linear nevus sebaceus syndrome"} {"id": "Orphanet_261265", "parentIds": ["Orphanet_98142"], "name": "17q12 microdeletion syndrome"} {"id": "Orphanet_261272", "parentIds": ["Orphanet_98132"], "name": "17q12 microduplication syndrome"} {"id": "Orphanet_261330", "parentIds": ["Orphanet_262182"], "name": "Distal 22q11.2 microdeletion syndrome"} @@ -24011,7 +26969,7 @@ {"id": "Orphanet_2631", "parentIds": ["Orphanet_156237", "Orphanet_364526"], "name": "Mesomelic dwarfism - cleft palate - camptodactyly"} {"id": "Orphanet_263297", "parentIds": ["Orphanet_206634", "Orphanet_79161"], "name": "Glycogen storage disease due to glycogenin deficiency"} {"id": "Orphanet_263410", "parentIds": ["Orphanet_309827", "Orphanet_183763", "EFO_0005596"], "name": "Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease"} -{"id": "Orphanet_263463", "parentIds": ["Orphanet_364803", "Orphanet_364526", "Orphanet_371235", "MONDO_0019052"], "name": "CHST3-related skeletal dysplasia"} +{"id": "Orphanet_263463", "parentIds": ["Orphanet_364803", "Orphanet_364526", "Orphanet_371235", "EFO_0000589"], "name": "CHST3-related skeletal dysplasia"} {"id": "Orphanet_263482", "parentIds": ["MONDO_0018240", "Orphanet_253"], "name": "Spondyloepiphyseal dysplasia, Maroteaux type"} {"id": "Orphanet_263676", "parentIds": ["Orphanet_98696"], "name": "Hereditary epidermolysis bullosa associated with ocular features"} {"id": "Orphanet_263708", "parentIds": ["Orphanet_68335"], "name": "Complex chromosomal rearrangement"} @@ -24027,10 +26985,10 @@ {"id": "Orphanet_264992", "parentIds": ["Orphanet_156610"], "name": "Genetic interstitial lung disease"} {"id": "Orphanet_265", "parentIds": ["Orphanet_102014", "Orphanet_207078"], "name": "Autosomal dominant limb-girdle muscular dystrophy type 1C"} {"id": "Orphanet_2650", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Dwarfism - intellectual disability - eye abnormality"} -{"id": "Orphanet_2653", "parentIds": ["Orphanet_90642", "Orphanet_71862"], "name": "Osteochondrodysplatic nanism - deafness - retinitis pigmentosa"} -{"id": "Orphanet_2666", "parentIds": ["Orphanet_98056", "MONDO_0100191"], "name": "Adult familial nephronophthisis - spastic quadriparesia"} +{"id": "Orphanet_2653", "parentIds": ["Orphanet_98657", "Orphanet_90642"], "name": "Osteochondrodysplatic nanism - deafness - retinitis pigmentosa"} +{"id": "Orphanet_2666", "parentIds": ["Orphanet_98056", "EFO_0003086"], "name": "Adult familial nephronophthisis - spastic quadriparesia"} {"id": "Orphanet_2668", "parentIds": ["Orphanet_90642"], "name": "Nephropathy-deafness-hyperparathyroidism syndrome"} -{"id": "Orphanet_2669", "parentIds": ["Orphanet_183539", "Orphanet_90642", "Orphanet_156622"], "name": "Nephrosis - deafness - urinary tract - digital malformations"} +{"id": "Orphanet_2669", "parentIds": ["MONDO_0021248", "Orphanet_183539", "Orphanet_90642", "Orphanet_156622"], "name": "Nephrosis - deafness - urinary tract - digital malformations"} {"id": "Orphanet_2678", "parentIds": ["Orphanet_183466"], "name": "Neurofibromatosis type 6"} {"id": "Orphanet_2680", "parentIds": ["Orphanet_404577"], "name": "Hypomyelination neuropathy - arthrogryposis"} {"id": "Orphanet_268114", "parentIds": ["Orphanet_169355", "Orphanet_140162"], "name": "RAS-associated autoimmune leukoproliferative disease"} @@ -24056,12 +27014,12 @@ {"id": "Orphanet_2698", "parentIds": ["Orphanet_98352", "Orphanet_90642"], "name": "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"} {"id": "Orphanet_271832", "parentIds": ["Orphanet_68336"], "name": "Genetic soft tissue tumor"} {"id": "Orphanet_271835", "parentIds": ["Orphanet_68336", "EFO_0010282", "EFO_0008549"], "name": "Genetic digestive tract tumor"} -{"id": "Orphanet_271841", "parentIds": ["MONDO_0017129", "Orphanet_68336"], "name": "Genetic cardiac tumor"} +{"id": "Orphanet_271841", "parentIds": ["Orphanet_68336", "EFO_1001339"], "name": "Genetic cardiac tumor"} {"id": "Orphanet_271844", "parentIds": ["Orphanet_68336", "EFO_0003863"], "name": "Genetic urogenital tumor"} {"id": "Orphanet_271847", "parentIds": ["EFO_0001379", "Orphanet_68336"], "name": "Genetic endocrine tumor"} -{"id": "Orphanet_271861", "parentIds": ["Orphanet_271870", "MONDO_0018634"], "name": "Familial transthyretin-related amyloidosis"} +{"id": "Orphanet_271861", "parentIds": ["Orphanet_271870", "EFO_1001875"], "name": "Familial transthyretin-related amyloidosis"} {"id": "Orphanet_271870", "parentIds": ["EFO_0000508"], "name": "Rare genetic systemic or rheumatologic disease"} -{"id": "Orphanet_272", "parentIds": ["Orphanet_183601", "Orphanet_371071", "MONDO_0019052", "Orphanet_352687", "Orphanet_371064", "Orphanet_371235"], "name": "Congenital muscular dystrophy, Fukuyama type"} +{"id": "Orphanet_272", "parentIds": ["Orphanet_183601", "Orphanet_371071", "EFO_0000589", "Orphanet_352687", "Orphanet_371064", "Orphanet_371235"], "name": "Congenital muscular dystrophy, Fukuyama type"} {"id": "Orphanet_2722", "parentIds": ["Orphanet_68346", "Orphanet_183580", "Orphanet_139027"], "name": "Odonto-onycho dysplasia - alopecia"} {"id": "Orphanet_2724", "parentIds": ["Orphanet_183580"], "name": "Odontomatosis - aortae esophagus stenosis"} {"id": "Orphanet_2728", "parentIds": ["Orphanet_293642"], "name": "Blepharophimosis-intellectual disability syndrome, Ohdo type"} @@ -24083,12 +27041,12 @@ {"id": "Orphanet_276058", "parentIds": ["Orphanet_183500"], "name": "Genetic neurodegenerative disease with dementia"} {"id": "Orphanet_276061", "parentIds": ["Orphanet_276058"], "name": "Genetic frontotemporal degeneration with dementia"} {"id": "Orphanet_276249", "parentIds": ["Orphanet_139027", "MONDO_0015333", "Orphanet_183422", "Orphanet_98097", "Orphanet_183490"], "name": "Xeroderma pigmentosum complementation group A"} -{"id": "Orphanet_276252", "parentIds": ["MONDO_0015333", "Orphanet_71862", "Orphanet_98097", "Orphanet_183422", "Orphanet_90642", "Orphanet_183763", "Orphanet_183490", "Orphanet_139027"], "name": "Xeroderma pigmentosum complementation group B"} +{"id": "Orphanet_276252", "parentIds": ["MONDO_0015333", "MONDO_0004884", "Orphanet_98657", "Orphanet_98097", "Orphanet_183422", "Orphanet_90642", "Orphanet_183763", "Orphanet_183490", "Orphanet_139027"], "name": "Xeroderma pigmentosum complementation group B"} {"id": "Orphanet_276255", "parentIds": ["Orphanet_183422", "MONDO_0015333", "Orphanet_183490", "Orphanet_139027"], "name": "Xeroderma pigmentosum complementation group C"} -{"id": "Orphanet_276258", "parentIds": ["Orphanet_183490", "Orphanet_139027", "MONDO_0015333", "Orphanet_71862", "Orphanet_183422", "Orphanet_183763", "Orphanet_90642", "Orphanet_98097"], "name": "Xeroderma pigmentosum complementation group D"} +{"id": "Orphanet_276258", "parentIds": ["Orphanet_183490", "Orphanet_139027", "MONDO_0015333", "MONDO_0004884", "Orphanet_183422", "Orphanet_183763", "Orphanet_98657", "Orphanet_90642", "Orphanet_98097"], "name": "Xeroderma pigmentosum complementation group D"} {"id": "Orphanet_276261", "parentIds": ["Orphanet_139027", "MONDO_0015333", "Orphanet_183490", "Orphanet_183422"], "name": "Xeroderma pigmentosum complementation group E"} -{"id": "Orphanet_276264", "parentIds": ["Orphanet_139027", "Orphanet_98097", "Orphanet_90642", "Orphanet_71862", "Orphanet_183490", "Orphanet_183422", "Orphanet_183763", "MONDO_0015333"], "name": "Xeroderma pigmentosum complementation group F"} -{"id": "Orphanet_276267", "parentIds": ["Orphanet_90642", "Orphanet_183490", "Orphanet_98097", "Orphanet_183422", "Orphanet_183763", "MONDO_0015333", "Orphanet_139027", "Orphanet_71862"], "name": "Xeroderma pigmentosum complementation group G"} +{"id": "Orphanet_276264", "parentIds": ["Orphanet_139027", "Orphanet_98657", "Orphanet_98097", "Orphanet_90642", "MONDO_0004884", "Orphanet_183490", "Orphanet_183422", "Orphanet_183763", "MONDO_0015333"], "name": "Xeroderma pigmentosum complementation group F"} +{"id": "Orphanet_276267", "parentIds": ["Orphanet_90642", "Orphanet_183490", "MONDO_0004884", "Orphanet_98097", "Orphanet_183422", "Orphanet_183763", "Orphanet_98657", "MONDO_0015333", "Orphanet_139027"], "name": "Xeroderma pigmentosum complementation group G"} {"id": "Orphanet_276399", "parentIds": ["Orphanet_183631", "Orphanet_140162"], "name": "Familial multinodular goiter"} {"id": "Orphanet_276432", "parentIds": ["MONDO_0015333"], "name": "Premature aging appearance-developmental delay-cardiac arrhythmia syndrome"} {"id": "Orphanet_277", "parentIds": ["Orphanet_79191", "MONDO_0017855"], "name": "Severe combined immunodeficiency due to adenosine deaminase deficiency"} @@ -24098,10 +27056,10 @@ {"id": "Orphanet_2779", "parentIds": ["Orphanet_183466", "Orphanet_364526"], "name": "Osteopathia striata - pigmentary dermopathy - white forelock"} {"id": "Orphanet_2780", "parentIds": ["Orphanet_364526"], "name": "Osteopathia striata - cranial sclerosis"} {"id": "Orphanet_2783", "parentIds": ["Orphanet_364526"], "name": "Autosomal dominant osteopetrosis type 1"} -{"id": "Orphanet_2785", "parentIds": ["EFO_0009566", "Orphanet_183592", "Orphanet_364526", "MONDO_0100191"], "name": "Osteopetrosis with renal tubular acidosis"} +{"id": "Orphanet_2785", "parentIds": ["EFO_0009566", "Orphanet_183592", "Orphanet_364526"], "name": "Osteopetrosis with renal tubular acidosis"} {"id": "Orphanet_2786", "parentIds": ["Orphanet_93446"], "name": "Osteoporosis - oculocutaneous hypopigmentation syndrome"} {"id": "Orphanet_2787", "parentIds": ["Orphanet_93446"], "name": "Osteoporosis - macrocephaly - blindness - joint hyperlaxity"} -{"id": "Orphanet_2788", "parentIds": ["Orphanet_98668", "Orphanet_183763", "Orphanet_93446"], "name": "Osteoporosis - pseudoglioma"} +{"id": "Orphanet_2788", "parentIds": ["Orphanet_183763", "Orphanet_98657", "Orphanet_93446"], "name": "Osteoporosis - pseudoglioma"} {"id": "Orphanet_2796", "parentIds": ["Orphanet_364526", "MONDO_0019276"], "name": "Pachydermoperiostosis"} {"id": "Orphanet_2798", "parentIds": ["Orphanet_183763", "Orphanet_166478"], "name": "Pachygyria - intellectual disability - epilepsy"} {"id": "Orphanet_279934", "parentIds": ["Orphanet_206966", "Orphanet_104013", "Orphanet_2443", "Orphanet_79191", "Orphanet_98695"], "name": "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"} @@ -24109,7 +27067,7 @@ {"id": "Orphanet_280282", "parentIds": ["MONDO_0017226"], "name": "Pelizaeus-Merzbacher-like disease due to GJC2 mutation"} {"id": "Orphanet_280288", "parentIds": ["MONDO_0017226"], "name": "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"} {"id": "Orphanet_280293", "parentIds": ["MONDO_0017226"], "name": "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"} -{"id": "Orphanet_280365", "parentIds": ["Orphanet_181368", "Orphanet_183484", "MONDO_0020087"], "name": "Autosomal codominant severe lipodystrophic laminopathy"} +{"id": "Orphanet_280365", "parentIds": ["Orphanet_181368", "Orphanet_183484", "EFO_1000727"], "name": "Autosomal codominant severe lipodystrophic laminopathy"} {"id": "Orphanet_280384", "parentIds": ["Orphanet_183763"], "name": "Recessive intellectual disability - motor dysfunction - multiple joint contractures"} {"id": "Orphanet_2804", "parentIds": ["Orphanet_156237", "MONDO_0020119", "Orphanet_183512"], "name": "W syndrome"} {"id": "Orphanet_2805", "parentIds": ["Orphanet_183548"], "name": "Partial pancreatic agenesis"} @@ -24135,19 +27093,19 @@ {"id": "Orphanet_2826", "parentIds": ["Orphanet_183500"], "name": "Spastic paraplegia - precocious puberty"} {"id": "Orphanet_2828", "parentIds": ["MONDO_0005180", "Orphanet_307055"], "name": "Young adult-onset Parkinsonism"} {"id": "Orphanet_2832", "parentIds": ["Orphanet_183530"], "name": "Short tarsus - absence of lower eyelashes"} -{"id": "Orphanet_28378", "parentIds": ["Orphanet_79190", "Orphanet_98357", "Orphanet_98711", "MONDO_0017263"], "name": "Tyrosinemia type 2"} +{"id": "Orphanet_28378", "parentIds": ["Orphanet_79190", "Orphanet_98357", "Orphanet_98711"], "name": "Tyrosinemia type 2"} {"id": "Orphanet_2840", "parentIds": ["Orphanet_93454"], "name": "Pelvic dysplasia - arthrogryposis of lower limbs"} {"id": "Orphanet_2841", "parentIds": ["Orphanet_183426"], "name": "Familial benign chronic pemphigus"} {"id": "Orphanet_284160", "parentIds": ["Orphanet_183530", "Orphanet_183763", "Orphanet_98142"], "name": "8q21.11 microdeletion syndrome"} {"id": "Orphanet_284169", "parentIds": ["Orphanet_98142", "Orphanet_330197"], "name": "10p11.21p12.31 microdeletion syndrome"} {"id": "Orphanet_284232", "parentIds": ["MONDO_0018993"], "name": "Autosomal dominant Charcot-Marie-Tooth disease type 2O"} -{"id": "Orphanet_284271", "parentIds": ["Orphanet_98693", "Orphanet_183518", "Orphanet_98539", "MONDO_0957003"], "name": "Autosomal recessive cerebellar ataxia - psychomotor retardation"} -{"id": "Orphanet_284289", "parentIds": ["Orphanet_183518", "Orphanet_98693", "Orphanet_98539", "MONDO_0957003"], "name": "Adult-onset autosomal recessive cerebellar ataxia"} -{"id": "Orphanet_284324", "parentIds": ["Orphanet_183518", "MONDO_0957003", "Orphanet_98693", "Orphanet_98539"], "name": "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"} +{"id": "Orphanet_284271", "parentIds": ["Orphanet_98693", "Orphanet_183518", "Orphanet_98539"], "name": "Autosomal recessive cerebellar ataxia - psychomotor retardation"} +{"id": "Orphanet_284289", "parentIds": ["Orphanet_183518", "Orphanet_98693", "Orphanet_98539"], "name": "Adult-onset autosomal recessive cerebellar ataxia"} +{"id": "Orphanet_284324", "parentIds": ["Orphanet_183518", "Orphanet_98693", "Orphanet_98539"], "name": "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"} {"id": "Orphanet_284417", "parentIds": ["Orphanet_79194"], "name": "Phosphoserine aminotransferase deficiency"} {"id": "Orphanet_284973", "parentIds": ["MONDO_0007947"], "name": "Marfan syndrome type 2"} {"id": "Orphanet_284984", "parentIds": ["Orphanet_285014", "MONDO_0017310"], "name": "Aneurysm - osteoarthritis syndrome"} -{"id": "Orphanet_2850", "parentIds": ["MONDO_0100118", "Orphanet_68346", "Orphanet_183763"], "name": "Alopecia-intellectual disability syndrome"} +{"id": "Orphanet_2850", "parentIds": ["EFO_0000701", "Orphanet_68346", "Orphanet_183763"], "name": "Alopecia-intellectual disability syndrome"} {"id": "Orphanet_285014", "parentIds": ["Orphanet_233655"], "name": "Rare disease with thoracic aortic aneurysm and aortic dissection"} {"id": "Orphanet_2856", "parentIds": ["Orphanet_400003"], "name": "Persistent Müllerian duct syndrome"} {"id": "Orphanet_2863", "parentIds": ["Orphanet_330197"], "name": "Short stature - wormian bones - dextrocardia"} @@ -24182,7 +27140,7 @@ {"id": "Orphanet_2921", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Preaxial polydactyly - colobomata - intellectual disability"} {"id": "Orphanet_2924", "parentIds": ["Orphanet_156601"], "name": "Isolated polycystic liver disease"} {"id": "Orphanet_2925", "parentIds": ["Orphanet_183763"], "name": "Polymicrogyria - turricephaly - hypogenitalism"} -{"id": "Orphanet_2926", "parentIds": ["Orphanet_71859", "MONDO_0024257"], "name": "Polyneuropathy - hand defect"} +{"id": "Orphanet_2926", "parentIds": ["Orphanet_71859", "EFO_0003782"], "name": "Polyneuropathy - hand defect"} {"id": "Orphanet_2928", "parentIds": ["Orphanet_183763"], "name": "Polyneuropathy - intellectual disability - acromicria - premature menopause"} {"id": "Orphanet_293355", "parentIds": ["Orphanet_289899"], "name": "Methylmalonic acidemia without homocystinuria"} {"id": "Orphanet_2934", "parentIds": ["Orphanet_183530"], "name": "Polysyndactyly - cardiac malformation"} @@ -24198,7 +27156,6 @@ {"id": "Orphanet_294049", "parentIds": ["Orphanet_364526"], "name": "Reunion Island's Larsen syndrome"} {"id": "Orphanet_2946", "parentIds": ["Orphanet_69028", "Orphanet_98054"], "name": "Brachydactyly - long thumb"} {"id": "Orphanet_2947", "parentIds": ["Orphanet_294959"], "name": "Triphalangeal thumbs - brachyectrodactyly"} -{"id": "Orphanet_294925", "parentIds": ["Orphanet_404571", "Orphanet_183536"], "name": "Amelia"} {"id": "Orphanet_294929", "parentIds": ["Orphanet_404571", "Orphanet_183536"], "name": "Terminal limb defects"} {"id": "Orphanet_294951", "parentIds": ["Orphanet_183536"], "name": "Congenital joint dislocations"} {"id": "Orphanet_294953", "parentIds": ["Orphanet_183536"], "name": "Limb overgrowth"} @@ -24224,29 +27181,29 @@ {"id": "Orphanet_2966", "parentIds": ["Orphanet_101992"], "name": "Properdin deficiency"} {"id": "Orphanet_2972", "parentIds": ["Orphanet_183580"], "name": "Non-eruption of teeth - maxillary hypoplasia - genu valgum"} {"id": "Orphanet_2973", "parentIds": ["Orphanet_325109", "Orphanet_183545"], "name": "46,XX disorder of sex development - anorectal anomalies"} -{"id": "Orphanet_2975", "parentIds": ["Orphanet_325638", "Orphanet_325109"], "name": "46,XX disorder of sex development - skeletal anomalies"} +{"id": "Orphanet_2975", "parentIds": ["Orphanet_325638", "MONDO_0021148", "Orphanet_325109"], "name": "46,XX disorder of sex development - skeletal anomalies"} {"id": "Orphanet_2980", "parentIds": ["Orphanet_108987", "Orphanet_98577"], "name": "Acro-oto-ocular syndrome"} -{"id": "Orphanet_2983", "parentIds": ["Orphanet_98087", "Orphanet_183763", "Orphanet_325638"], "name": "Disorder of sex development - intellectual disability"} +{"id": "Orphanet_2983", "parentIds": ["Orphanet_98087", "Orphanet_183763", "Orphanet_325638", "MONDO_0021148"], "name": "Disorder of sex development - intellectual disability"} {"id": "Orphanet_2988", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Pterygium colli - intellectual disability - digital anomalies"} {"id": "Orphanet_2989", "parentIds": ["Orphanet_98610"], "name": "Pterygium of the conjunctiva, familial form"} {"id": "Orphanet_2994", "parentIds": ["Orphanet_183530"], "name": "Short stature - craniofacial anomalies - genital hypoplasia"} -{"id": "Orphanet_2995", "parentIds": ["Orphanet_98577", "Orphanet_102010"], "name": "Baraitser-Winter syndrome"} +{"id": "Orphanet_2995", "parentIds": ["Orphanet_98577", "Orphanet_183530", "Orphanet_102010"], "name": "Baraitser-Winter syndrome"} {"id": "Orphanet_2997", "parentIds": ["Orphanet_98577"], "name": "Ptosis - vocal cord paralysis"} {"id": "Orphanet_2999", "parentIds": ["Orphanet_98577"], "name": "Ptosis - strabismus - ectopic pupils"} {"id": "Orphanet_30", "parentIds": ["Orphanet_248296", "Orphanet_79193"], "name": "Hereditary orotic aciduria"} {"id": "Orphanet_300284", "parentIds": ["Orphanet_271870", "Orphanet_90642", "Orphanet_139030"], "name": "Connective tissue disorder due to lysyl hydroxylase-3 deficiency"} {"id": "Orphanet_300333", "parentIds": ["Orphanet_93550", "Orphanet_90642"], "name": "Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome"} {"id": "Orphanet_300345", "parentIds": ["Orphanet_271870"], "name": "Autosomal recessive systemic lupus erythematosus"} -{"id": "Orphanet_300359", "parentIds": ["EFO_1001881", "Orphanet_169361", "MONDO_0100118"], "name": "PLCG2-associated antibody deficiency and immune dysregulation"} +{"id": "Orphanet_300359", "parentIds": ["EFO_1001881", "Orphanet_169361"], "name": "PLCG2-associated antibody deficiency and immune dysregulation"} {"id": "Orphanet_3004", "parentIds": ["Orphanet_294959"], "name": "Mirror polydactyly - vertebral segmentation - limbs defects"} {"id": "Orphanet_300496", "parentIds": ["Orphanet_371235", "Orphanet_371071", "Orphanet_309515"], "name": "Multiple congenital anomalies-hypotonia-seizures syndrome type 2"} {"id": "Orphanet_300547", "parentIds": ["Orphanet_98056", "Orphanet_183634"], "name": "Autosomal recessive infantile hypercalcemia"} {"id": "Orphanet_300570", "parentIds": ["Orphanet_163209"], "name": "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"} {"id": "Orphanet_300573", "parentIds": ["Orphanet_183763", "Orphanet_163209"], "name": "Polymicrogyria due to TUBB2B mutation"} {"id": "Orphanet_300576", "parentIds": ["Orphanet_183422"], "name": "Oligodontia - cancer predisposition syndrome"} -{"id": "Orphanet_300751", "parentIds": ["Orphanet_98054", "EFO_0002945"], "name": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation"} +{"id": "Orphanet_300751", "parentIds": ["Orphanet_98054", "EFO_0000318"], "name": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation"} {"id": "Orphanet_3010", "parentIds": ["Orphanet_183763"], "name": "Qazi-Markouizos syndrome"} -{"id": "Orphanet_3011", "parentIds": ["Orphanet_71862", "Orphanet_183763"], "name": "Spastic tetraplegia - retinitis pigmentosa - intellectual disability"} +{"id": "Orphanet_3011", "parentIds": ["Orphanet_98657", "Orphanet_183763"], "name": "Spastic tetraplegia - retinitis pigmentosa - intellectual disability"} {"id": "Orphanet_3016", "parentIds": ["Orphanet_404574"], "name": "Radius absent - anogenital anomalies"} {"id": "Orphanet_3020", "parentIds": ["Orphanet_307067"], "name": "Ramsay-Hunt syndrome"} {"id": "Orphanet_303", "parentIds": ["Orphanet_183426", "Orphanet_139027"], "name": "Dystrophic epidermolysis bullosa"} @@ -24264,7 +27221,7 @@ {"id": "Orphanet_3061", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability, Raynaud type"} {"id": "Orphanet_3063", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability, Snyder type"} {"id": "Orphanet_3064", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability, Wittner type"} -{"id": "Orphanet_306504", "parentIds": ["Orphanet_93550", "MONDO_0019276", "Orphanet_139027", "Orphanet_183426", "Orphanet_264992"], "name": "Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome"} +{"id": "Orphanet_306504", "parentIds": ["EFO_1000690", "Orphanet_93550", "Orphanet_139027", "Orphanet_183426", "Orphanet_264992"], "name": "Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome"} {"id": "Orphanet_306511", "parentIds": ["Orphanet_183500"], "name": "Autosomal recessive spastic paraplegia type 48"} {"id": "Orphanet_306530", "parentIds": ["Orphanet_269550"], "name": "Congenital hereditary facial paralysis with variable hearing loss"} {"id": "Orphanet_306542", "parentIds": ["Orphanet_156237", "Orphanet_404584", "Orphanet_183576", "Orphanet_183524"], "name": "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome"} @@ -24272,15 +27229,15 @@ {"id": "Orphanet_306661", "parentIds": ["Orphanet_371200", "EFO_0009385"], "name": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome"} {"id": "Orphanet_3067", "parentIds": ["Orphanet_183763"], "name": "Intellectual disability - microcephaly - phalangeal - facial abnormalities"} {"id": "Orphanet_306708", "parentIds": ["Orphanet_307058"], "name": "Frontotemporal neurodegeneration with movement disorder"} -{"id": "Orphanet_306719", "parentIds": ["Orphanet_183521", "MONDO_0024237"], "name": "Neurodegenerative disease with chorea"} +{"id": "Orphanet_306719", "parentIds": ["Orphanet_183521", "EFO_0005772"], "name": "Neurodegenerative disease with chorea"} {"id": "Orphanet_306734", "parentIds": ["Orphanet_391799"], "name": "Primary dystonia, DYT21 type"} {"id": "Orphanet_306756", "parentIds": ["Orphanet_307067"], "name": "Epilepsy and/or ataxia with myoclonus as major feature"} {"id": "Orphanet_306759", "parentIds": ["Orphanet_306756"], "name": "Non progressive epilepsy and/or ataxia with myoclonus as a major feature"} {"id": "Orphanet_306768", "parentIds": ["Orphanet_183521"], "name": "Rare paroxysmal movement disorder"} {"id": "Orphanet_3068", "parentIds": ["Orphanet_206634", "Orphanet_183763"], "name": "Intellectual disability - myopathy - short stature - endocrine defect"} {"id": "Orphanet_307052", "parentIds": ["Orphanet_183521"], "name": "Rare genetic parkinsonian disorder"} -{"id": "Orphanet_307055", "parentIds": ["Orphanet_307052", "MONDO_0024237"], "name": "Rare parkinsonian syndrome due to genetic neurodegenerative disease"} -{"id": "Orphanet_307058", "parentIds": ["Orphanet_183521", "MONDO_0024237"], "name": "Miscellaneous movement disorder due to genetic neurodegenerative disease"} +{"id": "Orphanet_307055", "parentIds": ["Orphanet_307052", "EFO_0005772"], "name": "Rare parkinsonian syndrome due to genetic neurodegenerative disease"} +{"id": "Orphanet_307058", "parentIds": ["Orphanet_183521", "EFO_0005772"], "name": "Miscellaneous movement disorder due to genetic neurodegenerative disease"} {"id": "Orphanet_307061", "parentIds": ["Orphanet_183521"], "name": "Rare genetic tremor disorder"} {"id": "Orphanet_307067", "parentIds": ["EFO_0000508"], "name": "Rare genetic disease with myoclonus as a major feature"} {"id": "Orphanet_3074", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Intellectual disability - short stature - hypertelorism"} @@ -24290,30 +27247,30 @@ {"id": "Orphanet_307804", "parentIds": ["Orphanet_307711"], "name": "Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature"} {"id": "Orphanet_307871", "parentIds": ["Orphanet_183426"], "name": "Disease with focal palmoplantar keratoderma as a major feature"} {"id": "Orphanet_308", "parentIds": ["MONDO_0020074", "Orphanet_98261"], "name": "Unverricht-Lundborg disease"} -{"id": "Orphanet_308023", "parentIds": ["Orphanet_183426", "MONDO_0019272"], "name": "Disease with punctate palmoplantar keratoderma as a major feature"} +{"id": "Orphanet_308023", "parentIds": ["Orphanet_183426", "EFO_1000745"], "name": "Disease with punctate palmoplantar keratoderma as a major feature"} {"id": "Orphanet_308031", "parentIds": ["Orphanet_308023"], "name": "Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature"} {"id": "Orphanet_308041", "parentIds": ["Orphanet_308023"], "name": "Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature"} {"id": "Orphanet_3082", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Intellectual disability - polydactyly - uncombable hair"} {"id": "Orphanet_308448", "parentIds": ["Orphanet_289899"], "name": "Aminoacylase deficiency"} -{"id": "Orphanet_3085", "parentIds": ["Orphanet_90642", "Orphanet_71862"], "name": "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism"} +{"id": "Orphanet_3085", "parentIds": ["Orphanet_98657", "Orphanet_90642"], "name": "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism"} {"id": "Orphanet_308520", "parentIds": ["Orphanet_79161"], "name": "Glycogen storage disease due to glycogen synthase deficiency"} {"id": "Orphanet_308573", "parentIds": ["Orphanet_365"], "name": "Glycogen storage disease due to acid maltase deficiency, juvenile onset"} {"id": "Orphanet_308604", "parentIds": ["Orphanet_365"], "name": "Glycogen storage disease due to acid maltase deficiency, adult onset"} {"id": "Orphanet_308993", "parentIds": ["Orphanet_79179"], "name": "Glycerol kinase deficiency"} -{"id": "Orphanet_309005", "parentIds": ["MONDO_0019052"], "name": "Disorder of lipid metabolism"} +{"id": "Orphanet_309005", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Disorder of lipid metabolism"} {"id": "Orphanet_309133", "parentIds": ["Orphanet_79174"], "name": "Metabolic disease due to other fatty acid oxidation disorder"} {"id": "Orphanet_309136", "parentIds": ["Orphanet_2443"], "name": "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes"} -{"id": "Orphanet_30924", "parentIds": ["MONDO_0019052", "Orphanet_183592"], "name": "Primary hypomagnesemia with secondary hypocalcemia"} +{"id": "Orphanet_30924", "parentIds": ["EFO_0000589", "Orphanet_183592"], "name": "Primary hypomagnesemia with secondary hypocalcemia"} {"id": "Orphanet_309246", "parentIds": ["MONDO_0017720"], "name": "GM2-gangliosidosis, AB variant"} {"id": "Orphanet_30925", "parentIds": ["Orphanet_183628"], "name": "Hereditary central diabetes insipidus"} -{"id": "Orphanet_309515", "parentIds": ["MONDO_0019052"], "name": "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"} -{"id": "Orphanet_309813", "parentIds": ["MONDO_0019052"], "name": "Disorder of porphyrin and haem metabolism"} +{"id": "Orphanet_309515", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"} +{"id": "Orphanet_309813", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Disorder of porphyrin and haem metabolism"} {"id": "Orphanet_309816", "parentIds": ["Orphanet_309813"], "name": "Disorder of bilirubin metabolism and excretion"} -{"id": "Orphanet_309827", "parentIds": ["MONDO_0019052"], "name": "Disorder of vitamin and non-protein cofactor absorption and transport "} -{"id": "Orphanet_309854", "parentIds": ["Orphanet_101940", "Orphanet_307055", "MONDO_0019052"], "name": "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"} +{"id": "Orphanet_309827", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Disorder of vitamin and non-protein cofactor absorption and transport "} +{"id": "Orphanet_309854", "parentIds": ["Orphanet_101940", "Orphanet_307055", "EFO_0000589"], "name": "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"} {"id": "Orphanet_3104", "parentIds": ["Orphanet_156237"], "name": "Robin sequence - oligodactyly"} {"id": "Orphanet_3109", "parentIds": ["Orphanet_180068", "Orphanet_400025", "Orphanet_183539"], "name": "Mayer-Rokitansky-Küster-Hauser syndrome"} -{"id": "Orphanet_3115", "parentIds": ["Orphanet_71859", "MONDO_0024257"], "name": "Roussy-Lévy syndrome"} +{"id": "Orphanet_3115", "parentIds": ["EFO_0003782", "Orphanet_71859"], "name": "Roussy-Lévy syndrome"} {"id": "Orphanet_3135", "parentIds": ["Orphanet_183524", "EFO_0008576"], "name": "Familial Scheuermann disease"} {"id": "Orphanet_313772", "parentIds": ["Orphanet_2443", "Orphanet_206966", "Orphanet_183518", "Orphanet_98695", "Orphanet_104013"], "name": "Early-onset spastic ataxia-neuropathy syndrome"} {"id": "Orphanet_313808", "parentIds": ["Orphanet_71859"], "name": "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"} @@ -24323,25 +27280,25 @@ {"id": "Orphanet_314373", "parentIds": ["Orphanet_104009"], "name": "Chronic diarrhea due to guanylate cyclase 2C overactivity"} {"id": "Orphanet_3145", "parentIds": ["Orphanet_183592"], "name": "Nephrogenic diabetes insipidus - intracranial calcification"} {"id": "Orphanet_314555", "parentIds": ["Orphanet_183542"], "name": "Craniofacial dysplasia-osteopenia syndrome"} -{"id": "Orphanet_314572", "parentIds": ["Orphanet_71862", "Orphanet_71859"], "name": "Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome"} +{"id": "Orphanet_314572", "parentIds": ["Orphanet_98657", "Orphanet_71859"], "name": "Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome"} {"id": "Orphanet_314603", "parentIds": ["Orphanet_183518", "Orphanet_35696"], "name": "Autosomal recessive spastic ataxia with leukoencephalopathy"} -{"id": "Orphanet_314629", "parentIds": ["Orphanet_68366", "Orphanet_98261", "Orphanet_183500", "Orphanet_98713", "Orphanet_98666"], "name": "CLN11 disease"} +{"id": "Orphanet_314629", "parentIds": ["Orphanet_68366", "Orphanet_98261", "Orphanet_183500", "Orphanet_98713", "Orphanet_98666", "MONDO_0004884"], "name": "CLN11 disease"} {"id": "Orphanet_314647", "parentIds": ["Orphanet_94145"], "name": "Non-progressive cerebellar ataxia with intellectual disability"} {"id": "Orphanet_314652", "parentIds": ["Orphanet_271870"], "name": "Autosomal dominant beta2-microglobulinic amyloidosis"} {"id": "Orphanet_314679", "parentIds": ["Orphanet_183530"], "name": "Cerebro-facio-articular syndrome"} {"id": "Orphanet_314993", "parentIds": ["Orphanet_98640", "Orphanet_269564"], "name": "Cataract-congenital heart disease-neural tube defect syndrome"} {"id": "Orphanet_315", "parentIds": ["Orphanet_183438"], "name": "Erythrokeratoderma \"en cocardes\""} {"id": "Orphanet_3151", "parentIds": ["Orphanet_68334", "Orphanet_281244"], "name": "Multiple sclerosis - ichthyosis - factor VIII deficiency"} -{"id": "Orphanet_3157", "parentIds": ["Orphanet_269564", "MONDO_0020145", "Orphanet_108987", "Orphanet_98671", "MONDO_0957003", "Orphanet_95495"], "name": "Septo-optic dysplasia"} +{"id": "Orphanet_3157", "parentIds": ["Orphanet_269564", "Orphanet_108987", "Orphanet_98671", "Orphanet_95495"], "name": "Septo-optic dysplasia"} {"id": "Orphanet_316244", "parentIds": ["Orphanet_98142"], "name": "Partial deletion of the short arm of chromosome 12"} {"id": "Orphanet_3172", "parentIds": ["Orphanet_294959"], "name": "Eyebrow duplication - syndactyly"} {"id": "Orphanet_3173", "parentIds": ["Orphanet_183512"], "name": "Infantile spasms - broad thumbs"} -{"id": "Orphanet_3175", "parentIds": ["MONDO_0020119", "MONDO_0015921"], "name": "Spasticity - intellectual disability - X-linked epilepsy"} +{"id": "Orphanet_3175", "parentIds": ["EFO_0700044", "MONDO_0020119"], "name": "Spasticity - intellectual disability - X-linked epilepsy"} {"id": "Orphanet_3176", "parentIds": ["Orphanet_156622"], "name": "Spina bifida - hypospadias"} {"id": "Orphanet_3184", "parentIds": ["Orphanet_68346", "Orphanet_183580"], "name": "Steatocystoma multiplex - natal teeth"} {"id": "Orphanet_3186", "parentIds": ["Orphanet_183763", "Orphanet_183539"], "name": "Holoprosencephaly - radial heart renal anomalies"} {"id": "Orphanet_3191", "parentIds": ["Orphanet_101435", "EFO_0009464"], "name": "Subaortic stenosis - short stature"} -{"id": "Orphanet_319189", "parentIds": ["MONDO_0017651"], "name": "Familial cortical myoclonus"} +{"id": "Orphanet_319189", "parentIds": ["EFO_0004280"], "name": "Familial cortical myoclonus"} {"id": "Orphanet_319199", "parentIds": ["Orphanet_183500"], "name": "Autosomal recessive spastic paraplegia type 53"} {"id": "Orphanet_319340", "parentIds": ["MONDO_0015285"], "name": "Carney complex-trismus-pseudocamptodactyly syndrome"} {"id": "Orphanet_319535", "parentIds": ["Orphanet_748"], "name": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency"} @@ -24363,26 +27320,26 @@ {"id": "Orphanet_320396", "parentIds": ["Orphanet_183500"], "name": "Autosomal recessive spastic paraplegia type 45"} {"id": "Orphanet_3204", "parentIds": ["Orphanet_275729"], "name": "Stormorken-Sjaastad-Langslet syndrome"} {"id": "Orphanet_320401", "parentIds": ["Orphanet_183500"], "name": "Autosomal recessive spastic paraplegia type 44"} -{"id": "Orphanet_320406", "parentIds": ["Orphanet_183500", "MONDO_0024257"], "name": "Spastic paraplegia-optic atrophy-neuropathy syndrome"} +{"id": "Orphanet_320406", "parentIds": ["Orphanet_183500", "EFO_0003782"], "name": "Spastic paraplegia-optic atrophy-neuropathy syndrome"} {"id": "Orphanet_320411", "parentIds": ["Orphanet_183500"], "name": "Autosomal recessive spastic paraplegia type 56"} {"id": "Orphanet_3207", "parentIds": ["Orphanet_183763"], "name": "White matter hypoplasia - corpus callosum agenesis - intellectual disability"} {"id": "Orphanet_321", "parentIds": ["Orphanet_183527"], "name": "Multiple osteochondromas"} {"id": "Orphanet_3217", "parentIds": ["Orphanet_90642"], "name": "Deafness - small bowel diverticulosis - neuropathy"} {"id": "Orphanet_3218", "parentIds": ["Orphanet_90642"], "name": "Deafness - epiphyseal dysplasia - short stature"} -{"id": "Orphanet_322126", "parentIds": ["EFO_0005803", "Orphanet_68336"], "name": "Genetic tumor of hematopoietic and lymphoid tissues"} -{"id": "Orphanet_3224", "parentIds": ["Orphanet_156622", "Orphanet_90642", "Orphanet_183763", "Orphanet_183530"], "name": "Deafness - genital anomalies - metacarpal and metatarsal synostosis"} +{"id": "Orphanet_322126", "parentIds": ["MONDO_0002334", "Orphanet_68336"], "name": "Genetic tumor of hematopoietic and lymphoid tissues"} +{"id": "Orphanet_3224", "parentIds": ["MONDO_0021248", "Orphanet_156622", "Orphanet_90642", "Orphanet_183763", "Orphanet_183530"], "name": "Deafness - genital anomalies - metacarpal and metatarsal synostosis"} {"id": "Orphanet_3225", "parentIds": ["Orphanet_90642"], "name": "Hearing loss - familial salivary gland insensitivity to aldosterone"} -{"id": "Orphanet_3226", "parentIds": ["MONDO_0100118", "Orphanet_90642"], "name": "Deafness - lymphedema - leukemia"} +{"id": "Orphanet_3226", "parentIds": ["Orphanet_90642", "EFO_0000701"], "name": "Deafness - lymphedema - leukemia"} {"id": "Orphanet_3230", "parentIds": ["Orphanet_90642", "Orphanet_183580"], "name": "Deafness - oligodontia"} {"id": "Orphanet_3232", "parentIds": ["Orphanet_90642"], "name": "Deafness - ear malformation - facial palsy"} {"id": "Orphanet_3233", "parentIds": ["Orphanet_98640", "Orphanet_90642"], "name": "Cochleosaccular degeneration - cataract"} {"id": "Orphanet_3236", "parentIds": ["Orphanet_68346", "Orphanet_139027"], "name": "Conductive deafness - ptosis - skeletal anomalies"} {"id": "Orphanet_3239", "parentIds": ["Orphanet_90642"], "name": "Deafness - vitiligo - achalasia"} -{"id": "Orphanet_3240", "parentIds": ["Orphanet_183763", "MONDO_0100191", "Orphanet_183592", "EFO_0009566", "Orphanet_90642"], "name": "Central nervous system calcification - deafness - tubular acidosis - anemia"} +{"id": "Orphanet_3240", "parentIds": ["Orphanet_183763", "Orphanet_183592", "EFO_0009566", "Orphanet_90642"], "name": "Central nervous system calcification - deafness - tubular acidosis - anemia"} {"id": "Orphanet_324262", "parentIds": ["Orphanet_363429"], "name": "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"} {"id": "Orphanet_324410", "parentIds": ["Orphanet_98054", "MONDO_0020119"], "name": "X-linked intellectual disability - cardiomegaly - congestive heart failure"} {"id": "Orphanet_324416", "parentIds": ["Orphanet_183530"], "name": "Muscular hypertrophy - hepatomegaly - polyhydramnios"} -{"id": "Orphanet_324422", "parentIds": ["Orphanet_371157", "MONDO_0019052", "Orphanet_371071"], "name": "ALG13-CDG"} +{"id": "Orphanet_324422", "parentIds": ["Orphanet_371157", "EFO_0000589", "Orphanet_371071"], "name": "ALG13-CDG"} {"id": "Orphanet_324442", "parentIds": ["MONDO_0018993"], "name": "Autosomal recessive axonal neuropathy with neuromyotonia"} {"id": "Orphanet_324540", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability"} {"id": "Orphanet_324588", "parentIds": ["Orphanet_306768"], "name": "Familial dyskinesia and facial myokymia"} @@ -24424,7 +27381,7 @@ {"id": "Orphanet_329475", "parentIds": ["Orphanet_364526", "Orphanet_183500"], "name": "Spastic paraplegia - Paget disease of bone"} {"id": "Orphanet_32960", "parentIds": ["Orphanet_290839", "Orphanet_271870"], "name": "Tumor necrosis factor receptor 1 associated periodic syndrome"} {"id": "Orphanet_329802", "parentIds": ["Orphanet_98132", "Orphanet_183763", "Orphanet_183530"], "name": "5p13 microduplication syndrome"} -{"id": "Orphanet_33001", "parentIds": ["MONDO_0100118", "Orphanet_98600"], "name": "Lymphedema - distichiasis"} +{"id": "Orphanet_33001", "parentIds": ["Orphanet_98600", "EFO_0000701"], "name": "Lymphedema - distichiasis"} {"id": "Orphanet_330032", "parentIds": ["Orphanet_231230"], "name": "Hemoglobin Lepore - beta-thalassemia"} {"id": "Orphanet_330041", "parentIds": ["Orphanet_183651"], "name": "Autosomal dominant methemoglobinemia"} {"id": "Orphanet_330050", "parentIds": ["Orphanet_71859", "Orphanet_254822"], "name": "Lethal encephalopathy due to mitochondrial and peroxisomal fission defect"} @@ -24433,7 +27390,6 @@ {"id": "Orphanet_330197", "parentIds": ["Orphanet_183530"], "name": "Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability"} {"id": "Orphanet_3304", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Fallot complex - intellectual disability - growth delay"} {"id": "Orphanet_3305", "parentIds": ["Orphanet_68335"], "name": "Tetraploidy"} -{"id": "Orphanet_33069", "parentIds": ["Orphanet_182083", "MONDO_0015653"], "name": "Dravet syndrome"} {"id": "Orphanet_331184", "parentIds": ["Orphanet_101988"], "name": "Constitutional neutropenia with extra-haematopoietic manifestations"} {"id": "Orphanet_331193", "parentIds": ["Orphanet_101988"], "name": "Other immunodeficiency syndromes due to defects in innate immunity"} {"id": "Orphanet_331220", "parentIds": ["MONDO_0021094"], "name": "Immunodeficiency due to absence of thymus"} @@ -24466,8 +27422,8 @@ {"id": "Orphanet_34516", "parentIds": ["Orphanet_102014"], "name": "Autosomal dominant limb-girdle muscular dystrophy type 1D"} {"id": "Orphanet_34517", "parentIds": ["Orphanet_102014"], "name": "Autosomal dominant limb-girdle muscular dystrophy type 1E"} {"id": "Orphanet_34520", "parentIds": ["Orphanet_206634"], "name": "Congenital muscular dystrophy with integrin alpha-7 deficiency"} -{"id": "Orphanet_34528", "parentIds": ["Orphanet_183592", "MONDO_0019052"], "name": "Autosomal dominant primary hypomagnesemia with hypocalciuria"} -{"id": "Orphanet_3453", "parentIds": ["Orphanet_183643", "Orphanet_101960", "Orphanet_169355", "Orphanet_183634", "MONDO_0016165"], "name": "Autoimmune polyendocrinopathy type 1"} +{"id": "Orphanet_34528", "parentIds": ["Orphanet_183592", "EFO_0000589"], "name": "Autosomal dominant primary hypomagnesemia with hypocalciuria"} +{"id": "Orphanet_3453", "parentIds": ["Orphanet_183643", "Orphanet_101960", "EFO_0009451", "Orphanet_169355", "Orphanet_183634"], "name": "Autoimmune polyendocrinopathy type 1"} {"id": "Orphanet_3454", "parentIds": ["Orphanet_206634", "MONDO_0020119", "Orphanet_404577"], "name": "Intellectual disability-developmental delay-contractures syndrome"} {"id": "Orphanet_34592", "parentIds": ["Orphanet_101972"], "name": "Immunodeficiency by defective expression of HLA class 1"} {"id": "Orphanet_3460", "parentIds": ["Orphanet_364526"], "name": "Torg-Winchester syndrome"} @@ -24479,19 +27435,19 @@ {"id": "Orphanet_352312", "parentIds": ["Orphanet_309005"], "name": "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement"} {"id": "Orphanet_352328", "parentIds": ["MONDO_0017359", "Orphanet_71859", "Orphanet_90642", "Orphanet_309136", "Orphanet_352306"], "name": "MEGDEL syndrome"} {"id": "Orphanet_352333", "parentIds": ["Orphanet_71859", "Orphanet_352306", "Orphanet_281238"], "name": "Congenital ichthyosis - intellectual disability - spastic quadriplegia"} -{"id": "Orphanet_352403", "parentIds": ["Orphanet_98539", "Orphanet_183518", "Orphanet_98693", "MONDO_0957003"], "name": "Spectrin-associated autosomal recessive cerebellar ataxia"} +{"id": "Orphanet_352403", "parentIds": ["Orphanet_98539", "Orphanet_183518", "Orphanet_98693"], "name": "Spectrin-associated autosomal recessive cerebellar ataxia"} {"id": "Orphanet_352447", "parentIds": ["Orphanet_2443"], "name": "Progressive external ophthalmoplegia - myopathy - emaciation"} -{"id": "Orphanet_352479", "parentIds": ["MONDO_0019052", "Orphanet_206634", "Orphanet_371064"], "name": "Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency"} +{"id": "Orphanet_352479", "parentIds": ["EFO_0000589", "Orphanet_206634", "Orphanet_371064"], "name": "Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency"} {"id": "Orphanet_352487", "parentIds": ["Orphanet_294959", "MONDO_0020119"], "name": "Digital anomalies - intellectual disability - short stature"} {"id": "Orphanet_352530", "parentIds": ["Orphanet_240371", "Orphanet_183763"], "name": "Intellectual disability - obesity - brain malformations - facial dysmorphism"} {"id": "Orphanet_352577", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency"} {"id": "Orphanet_352587", "parentIds": ["Orphanet_166478", "Orphanet_166472"], "name": "Focal epilepsy - intellectual disability - cerebro-cerebellar malformation"} {"id": "Orphanet_352654", "parentIds": ["Orphanet_183500"], "name": "Early-onset progressive neurodegeneration - blindness - ataxia - spasticity"} {"id": "Orphanet_352662", "parentIds": ["Orphanet_98352", "Orphanet_101435", "EFO_0009464"], "name": "Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis"} -{"id": "Orphanet_352670", "parentIds": ["MONDO_0024257", "Orphanet_71859", "MONDO_0015626"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F"} +{"id": "Orphanet_352670", "parentIds": ["EFO_0003782", "Orphanet_71859", "MONDO_0015626"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F"} {"id": "Orphanet_352675", "parentIds": ["Orphanet_64747"], "name": "X-linked Charcot-Marie-Tooth disease type 6"} -{"id": "Orphanet_352687", "parentIds": ["Orphanet_48471", "Orphanet_370953"], "name": "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies"} -{"id": "Orphanet_352709", "parentIds": ["Orphanet_98713", "Orphanet_98666", "Orphanet_68366", "Orphanet_183500", "Orphanet_98261"], "name": "CLN13 disease"} +{"id": "Orphanet_352687", "parentIds": ["Orphanet_370953", "Orphanet_166478"], "name": "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies"} +{"id": "Orphanet_352709", "parentIds": ["Orphanet_98713", "Orphanet_98666", "Orphanet_68366", "Orphanet_183500", "Orphanet_98261", "MONDO_0004884"], "name": "CLN13 disease"} {"id": "Orphanet_352712", "parentIds": ["Orphanet_183570", "Orphanet_139027", "MONDO_0021094"], "name": "Facial dysmorphism - immunodeficiency - livedo - short stature"} {"id": "Orphanet_352740", "parentIds": ["Orphanet_98700", "Orphanet_79062"], "name": "Ocular albinism with congenital sensorineural deafness"} {"id": "Orphanet_353217", "parentIds": ["Orphanet_79200", "Orphanet_183530", "Orphanet_183512", "EFO_0010238"], "name": "Epileptic encephalopathy with global cerebral demyelination"} @@ -24511,12 +27467,12 @@ {"id": "Orphanet_363300", "parentIds": ["Orphanet_165655"], "name": "Genetic intractable diarrhea of infancy"} {"id": "Orphanet_363306", "parentIds": ["Orphanet_165655", "EFO_0009554"], "name": "Genetic intestinal disease due to fat malabsorption"} {"id": "Orphanet_363424", "parentIds": ["Orphanet_71859", "Orphanet_289573"], "name": "Hypotonia-cerebral atrophy-hyperglycinemia syndrome"} -{"id": "Orphanet_363429", "parentIds": ["Orphanet_79166", "MONDO_0957003", "Orphanet_98539", "Orphanet_183518", "Orphanet_98693"], "name": "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome"} +{"id": "Orphanet_363429", "parentIds": ["Orphanet_79166", "Orphanet_98539", "Orphanet_183518", "Orphanet_98693"], "name": "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome"} {"id": "Orphanet_363432", "parentIds": ["Orphanet_363429"], "name": "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"} {"id": "Orphanet_363543", "parentIds": ["Orphanet_206634"], "name": "Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency"} {"id": "Orphanet_36355", "parentIds": ["Orphanet_275736"], "name": "P2Y12 defect"} {"id": "Orphanet_363700", "parentIds": ["Orphanet_98056", "Orphanet_98196", "Orphanet_140162", "Orphanet_183466", "Orphanet_98701", "Orphanet_166466"], "name": "Neurofibromatosis type 1 due to NF1mutation or intragenic deletion"} -{"id": "Orphanet_363741", "parentIds": ["Orphanet_240371", "MONDO_0020147"], "name": "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"} +{"id": "Orphanet_363741", "parentIds": ["Orphanet_240371", "EFO_0700119"], "name": "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"} {"id": "Orphanet_36382", "parentIds": ["Orphanet_71859"], "name": "Familial cervical artery dissections"} {"id": "Orphanet_36387", "parentIds": ["Orphanet_166475", "Orphanet_182083"], "name": "Generalized epilepsy with febrile seizures-plus"} {"id": "Orphanet_363958", "parentIds": ["Orphanet_98142", "Orphanet_183530"], "name": "17q21.31 microdeletion syndrome"} @@ -24532,11 +27488,11 @@ {"id": "Orphanet_369837", "parentIds": ["Orphanet_364526", "Orphanet_183763"], "name": "Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome"} {"id": "Orphanet_369840", "parentIds": ["Orphanet_206634"], "name": "Autosomal recessive limb-girdle muscular dystrophy type 2S"} {"id": "Orphanet_369852", "parentIds": ["Orphanet_331184"], "name": "Recurrent infections-myelofibrosis-nephromegaly syndrome"} -{"id": "Orphanet_369867", "parentIds": ["MONDO_0024257", "MONDO_0015626", "Orphanet_71859"], "name": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C"} +{"id": "Orphanet_369867", "parentIds": ["EFO_0003782", "MONDO_0015626", "Orphanet_71859"], "name": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C"} {"id": "Orphanet_369891", "parentIds": ["Orphanet_183763", "Orphanet_183530", "Orphanet_156532"], "name": "Cardiac anomalies-developmental delay-facial dysmorphism syndrome"} {"id": "Orphanet_369894", "parentIds": ["Orphanet_183530", "Orphanet_166472", "EFO_0010238"], "name": "Early infantile epileptic encephalopathy without suppression burst"} {"id": "Orphanet_369897", "parentIds": ["Orphanet_206966", "Orphanet_2443", "Orphanet_104013", "Orphanet_98695"], "name": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"} -{"id": "Orphanet_369970", "parentIds": ["Orphanet_71862", "Orphanet_183557"], "name": "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome"} +{"id": "Orphanet_369970", "parentIds": ["Orphanet_98657", "Orphanet_183557"], "name": "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome"} {"id": "Orphanet_369979", "parentIds": ["Orphanet_294959"], "name": "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome"} {"id": "Orphanet_370", "parentIds": ["Orphanet_79161"], "name": "Glycogen storage disease due to phosphorylase kinase deficiency"} {"id": "Orphanet_370022", "parentIds": ["Orphanet_98688", "Orphanet_269567", "Orphanet_183763"], "name": "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome"} @@ -24544,14 +27500,14 @@ {"id": "Orphanet_370088", "parentIds": ["Orphanet_156601"], "name": "Acute infantile liver failure-multisystemic involvement syndrome"} {"id": "Orphanet_370106", "parentIds": ["Orphanet_391799"], "name": "Rare disorder with dystonia and other neurologic or systemic manifestation"} {"id": "Orphanet_370109", "parentIds": ["Orphanet_391799"], "name": "Ataxia-telangiectasia variant"} -{"id": "Orphanet_370943", "parentIds": ["Orphanet_180772", "MONDO_0019052", "Orphanet_404577", "Orphanet_371071", "Orphanet_371064", "Orphanet_371235"], "name": "Autism spectrum disorder-epilepsy-arthrogryposis syndrome"} +{"id": "Orphanet_370943", "parentIds": ["Orphanet_180772", "Orphanet_404577", "Orphanet_371071", "Orphanet_371064", "Orphanet_371235", "EFO_0000589"], "name": "Autism spectrum disorder-epilepsy-arthrogryposis syndrome"} {"id": "Orphanet_370953", "parentIds": ["Orphanet_206634"], "name": "Congenital muscular dystrophy due to dystroglycanopathy"} {"id": "Orphanet_371047", "parentIds": ["Orphanet_71859"], "name": "Congenital disorder of glycosylation with neurological involvement"} {"id": "Orphanet_371054", "parentIds": ["Orphanet_371047", "Orphanet_182076"], "name": "X-linked congenital disorder of glycosylation with intellectual disability as a major feature"} {"id": "Orphanet_371064", "parentIds": ["Orphanet_371047", "Orphanet_182073"], "name": "Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature"} {"id": "Orphanet_371071", "parentIds": ["Orphanet_371047"], "name": "Congenital disorder of glycosylation with epilepsy as a major feature"} {"id": "Orphanet_371157", "parentIds": ["Orphanet_101940"], "name": "Congenital disorder of glycosylation with hepatic involvement"} -{"id": "Orphanet_371176", "parentIds": ["Orphanet_98054", "EFO_0002945"], "name": "Congenital disorder of glycosylation with dilated cardiomyopathy"} +{"id": "Orphanet_371176", "parentIds": ["Orphanet_98054", "EFO_0000318"], "name": "Congenital disorder of glycosylation with dilated cardiomyopathy"} {"id": "Orphanet_371183", "parentIds": ["Orphanet_371235", "Orphanet_156532"], "name": "Congenital disorder of glycosylation with cardiac malformation as a major feature"} {"id": "Orphanet_371188", "parentIds": ["Orphanet_104013"], "name": "Congenital disorder of glycosylation with intestinal involvement"} {"id": "Orphanet_371200", "parentIds": ["Orphanet_79387"], "name": "Congenital disorder of glycosylation with skin involvement"} @@ -24579,7 +27535,7 @@ {"id": "Orphanet_397618", "parentIds": ["Orphanet_98671", "Orphanet_98657"], "name": "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"} {"id": "Orphanet_397685", "parentIds": ["Orphanet_400011", "Orphanet_399983", "Orphanet_183628"], "name": "Familial hyperprolactinemia"} {"id": "Orphanet_397709", "parentIds": ["Orphanet_269567", "Orphanet_183763"], "name": "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"} -{"id": "Orphanet_397725", "parentIds": ["Orphanet_183500", "Orphanet_307058", "EFO_0009556", "MONDO_0019052"], "name": "COASY protein-associated neurodegeneration"} +{"id": "Orphanet_397725", "parentIds": ["Orphanet_183500", "Orphanet_307058", "EFO_0009556"], "name": "COASY protein-associated neurodegeneration"} {"id": "Orphanet_397735", "parentIds": ["MONDO_0018993"], "name": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation"} {"id": "Orphanet_398069", "parentIds": ["MONDO_0008300"], "name": "Prader-Willi syndrome due to point mutation"} {"id": "Orphanet_398079", "parentIds": ["MONDO_0008300"], "name": "Prader-Willi-like syndrome due to point mutation"} @@ -24626,7 +27582,7 @@ {"id": "Orphanet_404454", "parentIds": ["Orphanet_183763", "Orphanet_91088"], "name": "Alacrimia-choreoathetosis-liver dysfunction syndrome"} {"id": "Orphanet_404469", "parentIds": ["Orphanet_400008"], "name": "Female infertility due to fertilization defect"} {"id": "Orphanet_404476", "parentIds": ["Orphanet_183595"], "name": "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"} -{"id": "Orphanet_404481", "parentIds": ["Orphanet_183763", "Orphanet_98539", "Orphanet_183518", "Orphanet_98693", "Orphanet_166472", "MONDO_0957003"], "name": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome"} +{"id": "Orphanet_404481", "parentIds": ["Orphanet_183763", "Orphanet_98539", "Orphanet_183518", "Orphanet_98693", "Orphanet_166472"], "name": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome"} {"id": "Orphanet_404493", "parentIds": ["Orphanet_404481"], "name": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"} {"id": "Orphanet_404571", "parentIds": ["Orphanet_404584", "Orphanet_183524"], "name": "Dysostosis of genetic origin with limb anomaly as a major feature"} {"id": "Orphanet_404574", "parentIds": ["Orphanet_404577", "Orphanet_404571"], "name": "Genetic syndrome with limb reduction defects"} @@ -24637,16 +27593,14 @@ {"id": "Orphanet_413", "parentIds": ["Orphanet_181422"], "name": "Hyperlipoproteinemia type 4"} {"id": "Orphanet_414", "parentIds": ["Orphanet_207018", "Orphanet_98713", "Orphanet_289869", "Orphanet_98662", "Orphanet_98712"], "name": "Gyrate atrophy of choroid and retina"} {"id": "Orphanet_415", "parentIds": ["Orphanet_79167"], "name": "Hyperornithinemia-hyperammonemia-homocitrullinuria"} -{"id": "Orphanet_41751", "parentIds": ["Orphanet_71862"], "name": "Bietti crystalline dystrophy"} -{"id": "Orphanet_423", "parentIds": ["Orphanet_352298"], "name": "Malignant hyperthermia"} +{"id": "Orphanet_41751", "parentIds": ["Orphanet_98657"], "name": "Bietti crystalline dystrophy"} {"id": "Orphanet_43", "parentIds": ["Orphanet_101960", "Orphanet_181441", "Orphanet_79188", "Orphanet_183500", "Orphanet_98543"], "name": "X-linked adrenoleukodystrophy"} {"id": "Orphanet_457", "parentIds": ["Orphanet_183426"], "name": "Harlequin ichthyosis"} {"id": "Orphanet_46532", "parentIds": ["Orphanet_231230"], "name": "Hereditary persistence of fetal hemoglobin - beta-thalassemia"} {"id": "Orphanet_46724", "parentIds": ["Orphanet_371436"], "name": "Cerebral arteriovenous malformation"} {"id": "Orphanet_47", "parentIds": ["MONDO_0003778"], "name": "X-linked agammaglobulinemia"} -{"id": "Orphanet_47045", "parentIds": ["Orphanet_271870", "EFO_1001881", "MONDO_0100118", "Orphanet_290839"], "name": "Familial cold urticaria"} -{"id": "Orphanet_48431", "parentIds": ["Orphanet_98645", "MONDO_0024257", "Orphanet_98539", "Orphanet_183518", "MONDO_0957003", "Orphanet_183763", "Orphanet_108987", "Orphanet_98560", "Orphanet_207028", "Orphanet_98693"], "name": "Congenital cataracts - facial dysmorphism - neuropathy"} -{"id": "Orphanet_48471", "parentIds": ["Orphanet_183763", "Orphanet_166478", "Orphanet_269564"], "name": "Lissencephaly"} +{"id": "Orphanet_47045", "parentIds": ["Orphanet_271870", "EFO_1001881", "Orphanet_290839"], "name": "Familial cold urticaria"} +{"id": "Orphanet_48431", "parentIds": ["EFO_0003782", "Orphanet_98645", "Orphanet_98539", "Orphanet_183518", "Orphanet_183763", "Orphanet_108987", "Orphanet_98560", "MONDO_0000941", "Orphanet_207028", "Orphanet_98693"], "name": "Congenital cataracts - facial dysmorphism - neuropathy"} {"id": "Orphanet_48652", "parentIds": ["Orphanet_262182"], "name": "Monosomy 22q13"} {"id": "Orphanet_502", "parentIds": ["Orphanet_139027", "Orphanet_364526", "Orphanet_68346", "Orphanet_98142"], "name": "Langer-Giedion syndrome"} {"id": "Orphanet_503", "parentIds": ["Orphanet_364526", "Orphanet_156237", "Orphanet_364803", "Orphanet_139030"], "name": "Autosomal dominant Larsen syndrome"} @@ -24660,14 +27614,14 @@ {"id": "Orphanet_51608", "parentIds": ["Orphanet_233655", "EFO_0005775"], "name": "Generalized arterial calcification of infancy"} {"id": "Orphanet_51636", "parentIds": ["Orphanet_331193", "Orphanet_331184"], "name": "WHIM syndrome"} {"id": "Orphanet_52054", "parentIds": ["Orphanet_183542", "Orphanet_183524", "Orphanet_404584"], "name": "Craniosynostosis - intracranial calcifications"} -{"id": "Orphanet_52055", "parentIds": ["MONDO_0020145", "Orphanet_269573", "MONDO_0020119", "Orphanet_108987"], "name": "Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia"} +{"id": "Orphanet_52055", "parentIds": ["Orphanet_269573", "MONDO_0020119", "Orphanet_108987"], "name": "Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia"} {"id": "Orphanet_52056", "parentIds": ["Orphanet_69028"], "name": "Ulnar/fibula ray defect - brachydactyly"} -{"id": "Orphanet_52368", "parentIds": ["Orphanet_98695", "Orphanet_90642", "MONDO_0020249", "Orphanet_79200", "Orphanet_183500", "Orphanet_183530", "MONDO_0020119"], "name": "Mohr-Tranebjaerg syndrome"} +{"id": "Orphanet_52368", "parentIds": ["Orphanet_98695", "Orphanet_90642", "MONDO_0020249", "Orphanet_79200", "Orphanet_183500", "Orphanet_183530", "MONDO_0004884", "MONDO_0020119"], "name": "Mohr-Tranebjaerg syndrome"} {"id": "Orphanet_52429", "parentIds": ["Orphanet_90642", "Orphanet_183530"], "name": "Branchio-otic syndrome"} {"id": "Orphanet_52503", "parentIds": ["Orphanet_182076", "Orphanet_71859", "Orphanet_183530", "MONDO_0000456"], "name": "X-linked creatine transporter deficiency"} {"id": "Orphanet_52901", "parentIds": ["Orphanet_399983", "Orphanet_400011", "Orphanet_183628", "Orphanet_95710"], "name": "Isolated follicle stimulating hormone deficiency"} {"id": "Orphanet_53", "parentIds": ["Orphanet_98666", "Orphanet_364526"], "name": "Albers-Schönberg osteopetrosis"} -{"id": "Orphanet_531", "parentIds": ["Orphanet_261965", "Orphanet_48471"], "name": "Miller-Dieker syndrome"} +{"id": "Orphanet_531", "parentIds": ["Orphanet_261965", "Orphanet_166478"], "name": "Miller-Dieker syndrome"} {"id": "Orphanet_53583", "parentIds": ["Orphanet_391799", "Orphanet_306768"], "name": "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"} {"id": "Orphanet_53689", "parentIds": ["Orphanet_165655"], "name": "Congenital chloride diarrhea"} {"id": "Orphanet_53696", "parentIds": ["Orphanet_404577"], "name": "Lethal arthrogryposis - anterior horn cell disease"} @@ -24675,7 +27629,7 @@ {"id": "Orphanet_550", "parentIds": ["Orphanet_225703", "Orphanet_98695", "Orphanet_254776", "Orphanet_206966", "Orphanet_217613", "Orphanet_217587", "Orphanet_90642"], "name": "MELAS"} {"id": "Orphanet_551", "parentIds": ["Orphanet_217587", "Orphanet_225703", "Orphanet_98695", "Orphanet_254776", "Orphanet_217613", "Orphanet_206966", "Orphanet_98261"], "name": "MERRF"} {"id": "Orphanet_552", "parentIds": ["Orphanet_183625"], "name": "MODY"} -{"id": "Orphanet_559", "parentIds": ["Orphanet_98560", "Orphanet_183518", "MONDO_0957003", "Orphanet_108987", "Orphanet_98693", "Orphanet_98645", "Orphanet_207028", "Orphanet_98539"], "name": "Marinesco-Sjögren syndrome"} +{"id": "Orphanet_559", "parentIds": ["MONDO_0000941", "Orphanet_98560", "Orphanet_183518", "Orphanet_108987", "Orphanet_98693", "Orphanet_98645", "Orphanet_207028", "Orphanet_98539"], "name": "Marinesco-Sjögren syndrome"} {"id": "Orphanet_570", "parentIds": ["Orphanet_98685", "Orphanet_269550", "Orphanet_98683", "Orphanet_330197", "Orphanet_183576"], "name": "Moebius syndrome"} {"id": "Orphanet_572", "parentIds": ["Orphanet_101972"], "name": "Immunodeficiency by defective expression of HLA class 2"} {"id": "Orphanet_585", "parentIds": ["Orphanet_281241", "Orphanet_79204", "Orphanet_183524", "Orphanet_183530", "Orphanet_71859"], "name": "Multiple sulfatase deficiency"} @@ -24685,21 +27639,21 @@ {"id": "Orphanet_597", "parentIds": ["Orphanet_206634"], "name": "Central core disease"} {"id": "Orphanet_6", "parentIds": ["Orphanet_289899"], "name": "Isolated 3-methylcrotonyl-CoA carboxylase deficiency"} {"id": "Orphanet_60", "parentIds": ["Orphanet_98056", "Orphanet_156610", "Orphanet_101940", "Orphanet_91088"], "name": "Alpha-1-antitrypsin deficiency"} -{"id": "Orphanet_602", "parentIds": ["Orphanet_371047", "Orphanet_206634", "MONDO_0019052"], "name": "Distal myopathy, Nonaka type"} +{"id": "Orphanet_602", "parentIds": ["Orphanet_371047", "EFO_0000589", "Orphanet_206634"], "name": "Distal myopathy, Nonaka type"} {"id": "Orphanet_606", "parentIds": ["Orphanet_181441", "Orphanet_98577", "Orphanet_206634"], "name": "Proximal myotonic myopathy"} {"id": "Orphanet_628", "parentIds": ["Orphanet_364536", "Orphanet_364803"], "name": "Diastrophic dwarfism"} {"id": "Orphanet_631", "parentIds": ["Orphanet_183628"], "name": "Non-acquired isolated growth hormone deficiency"} {"id": "Orphanet_63261", "parentIds": ["Orphanet_183539", "Orphanet_247691"], "name": "HERNS syndrome"} {"id": "Orphanet_64747", "parentIds": ["MONDO_0020119", "Orphanet_90642", "MONDO_0015626"], "name": "X-linked Charcot-Marie-Tooth disease"} -{"id": "Orphanet_64748", "parentIds": ["Orphanet_71859", "MONDO_0024257"], "name": "Dejerine-Sottas syndrome"} -{"id": "Orphanet_64753", "parentIds": ["Orphanet_98688", "Orphanet_98097"], "name": "Spinocerebellar ataxia with axonal neuropathy type 2"} +{"id": "Orphanet_64748", "parentIds": ["EFO_0003782", "Orphanet_71859"], "name": "Dejerine-Sottas syndrome"} +{"id": "Orphanet_64753", "parentIds": ["Orphanet_98688", "MONDO_0004884", "Orphanet_98097"], "name": "Spinocerebellar ataxia with axonal neuropathy type 2"} {"id": "Orphanet_65286", "parentIds": ["Orphanet_98142"], "name": "3q29 microdeletion syndrome"} {"id": "Orphanet_65288", "parentIds": ["Orphanet_183625", "Orphanet_269567", "EFO_0010238"], "name": "Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis"} -{"id": "Orphanet_654", "parentIds": ["Orphanet_183595", "EFO_1000356", "EFO_0005784"], "name": "Nephroblastoma"} +{"id": "Orphanet_654", "parentIds": ["Orphanet_183595", "EFO_1000363", "EFO_1000356", "EFO_0005784"], "name": "Nephroblastoma"} {"id": "Orphanet_65720", "parentIds": ["Orphanet_404577"], "name": "Arthrogryposis - severe scoliosis"} {"id": "Orphanet_65743", "parentIds": ["Orphanet_404577", "MONDO_0019276"], "name": "Autosomal dominant multiple pterygium syndrome"} {"id": "Orphanet_661", "parentIds": ["EFO_0009532", "Orphanet_71859"], "name": "Ondine syndrome"} -{"id": "Orphanet_665", "parentIds": ["Orphanet_98648", "Orphanet_183634", "MONDO_0016165", "MONDO_0019276", "Orphanet_240371", "Orphanet_69028", "Orphanet_183592"], "name": "Albright hereditary osteodystrophy"} +{"id": "Orphanet_665", "parentIds": ["Orphanet_98648", "Orphanet_183634", "EFO_0009451", "MONDO_0019276", "Orphanet_240371", "Orphanet_69028", "Orphanet_183592"], "name": "Albright hereditary osteodystrophy"} {"id": "Orphanet_66518", "parentIds": ["Orphanet_181368"], "name": "Short fifth metacarpals - insulin resistance"} {"id": "Orphanet_66625", "parentIds": ["Orphanet_269564", "Orphanet_183763"], "name": "Cerebro-oculo-nasal syndrome"} {"id": "Orphanet_66633", "parentIds": ["Orphanet_90642", "Orphanet_307061"], "name": "Sensorineural hearing loss - early graying - essential tremor"} @@ -24707,22 +27661,22 @@ {"id": "Orphanet_667", "parentIds": ["Orphanet_364526"], "name": "Autosomal recessive malignant osteopetrosis"} {"id": "Orphanet_67036", "parentIds": ["MONDO_0043878", "Orphanet_254822"], "name": "Autosomal dominant optic atrophy and cataract"} {"id": "Orphanet_67041", "parentIds": ["Orphanet_68366", "Orphanet_183524", "Orphanet_98638", "Orphanet_183530"], "name": "Hyaluronidase deficiency"} -{"id": "Orphanet_678", "parentIds": ["Orphanet_139027", "Orphanet_307804", "Orphanet_101988", "MONDO_0019052", "Orphanet_183580"], "name": "Papillon-Lefèvre syndrome"} +{"id": "Orphanet_678", "parentIds": ["Orphanet_139027", "Orphanet_307804", "Orphanet_101988", "EFO_0000589", "Orphanet_183580"], "name": "Papillon-Lefèvre syndrome"} {"id": "Orphanet_68334", "parentIds": ["Orphanet_183654"], "name": "Rare hemorrhagic disorder due to a constitutional coagulation factors defect"} {"id": "Orphanet_68335", "parentIds": ["EFO_0000508"], "name": "Chromosomal anomaly"} {"id": "Orphanet_68336", "parentIds": ["EFO_0000616", "EFO_0000508"], "name": "Rare genetic tumor"} {"id": "Orphanet_68346", "parentIds": ["EFO_0000508"], "name": "Rare genetic skin disease"} -{"id": "Orphanet_68366", "parentIds": ["MONDO_0019052"], "name": "Lysosomal disease"} +{"id": "Orphanet_68366", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Lysosomal disease"} {"id": "Orphanet_68383", "parentIds": ["MONDO_0015909"], "name": "Rare constitutional medullar aplasia"} {"id": "Orphanet_69028", "parentIds": ["Orphanet_404577", "Orphanet_404571"], "name": "Syndrome with brachydactyly"} {"id": "Orphanet_69076", "parentIds": ["Orphanet_98056", "Orphanet_79161"], "name": "Renal glucosuria"} -{"id": "Orphanet_69088", "parentIds": ["MONDO_0100118", "Orphanet_364526", "Orphanet_139027", "Orphanet_331193", "Orphanet_68346"], "name": "Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema"} +{"id": "Orphanet_69088", "parentIds": ["EFO_0000701", "Orphanet_364526", "Orphanet_139027", "Orphanet_331193", "Orphanet_68346"], "name": "Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema"} {"id": "Orphanet_69126", "parentIds": ["Orphanet_79385", "Orphanet_290839"], "name": "Pyogenic arthritis - pyoderma gangrenosum - acne"} {"id": "Orphanet_69723", "parentIds": ["Orphanet_79190"], "name": "Tyrosinemia type 3"} {"id": "Orphanet_69735", "parentIds": ["EFO_0000701"], "name": "Hypotrichosis - lymphedema - telangiectasia"} {"id": "Orphanet_69739", "parentIds": ["Orphanet_71859", "Orphanet_90642"], "name": "Athabaskan brainstem dysgenesis syndrome"} {"id": "Orphanet_7", "parentIds": ["Orphanet_269570", "Orphanet_183763"], "name": "3C syndrome"} -{"id": "Orphanet_701", "parentIds": ["Orphanet_68346", "MONDO_0100118"], "name": "Alopecia universalis"} +{"id": "Orphanet_701", "parentIds": ["EFO_0000701", "Orphanet_68346"], "name": "Alopecia universalis"} {"id": "Orphanet_70470", "parentIds": ["Orphanet_181422"], "name": "Hyperlipoproteinemia type 5"} {"id": "Orphanet_70592", "parentIds": ["Orphanet_183710"], "name": "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"} {"id": "Orphanet_70595", "parentIds": ["Orphanet_225703", "Orphanet_206966", "Orphanet_2443"], "name": "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis"} @@ -24736,10 +27690,9 @@ {"id": "Orphanet_71291", "parentIds": ["Orphanet_247691"], "name": "Hereditary vascular retinopathy"} {"id": "Orphanet_71517", "parentIds": ["Orphanet_307052", "Orphanet_391799"], "name": "Rapid-onset dystonia-parkinsonism"} {"id": "Orphanet_71859", "parentIds": ["EFO_0000508"], "name": "Rare genetic neurological disorder"} -{"id": "Orphanet_71862", "parentIds": ["Orphanet_98657"], "name": "Retinal dystrophy"} -{"id": "Orphanet_726", "parentIds": ["Orphanet_98695", "EFO_0005774", "Orphanet_2443", "Orphanet_104013", "Orphanet_225703", "Orphanet_183500", "Orphanet_206966"], "name": "Alpers syndrome"} -{"id": "Orphanet_73217", "parentIds": ["Orphanet_156622", "EFO_0009549"], "name": "Müllerian aplasia"} -{"id": "Orphanet_73220", "parentIds": ["MONDO_0016980"], "name": "X-linked intellectual disability - hypotonic face"} +{"id": "Orphanet_726", "parentIds": ["Orphanet_98695", "MONDO_0004884", "EFO_0005774", "Orphanet_2443", "Orphanet_104013", "Orphanet_225703", "Orphanet_183500", "Orphanet_206966"], "name": "Alpers syndrome"} +{"id": "Orphanet_73217", "parentIds": ["Orphanet_156622", "MONDO_0021148"], "name": "Müllerian aplasia"} +{"id": "Orphanet_73220", "parentIds": ["MONDO_0100284"], "name": "X-linked intellectual disability - hypotonic face"} {"id": "Orphanet_73223", "parentIds": ["Orphanet_183763"], "name": "Global developmental delay - osteopenia - ectodermal defect"} {"id": "Orphanet_73224", "parentIds": ["Orphanet_217619"], "name": "Tubular renal disease - cardiomyopathy"} {"id": "Orphanet_73229", "parentIds": ["Orphanet_93550", "Orphanet_71859"], "name": "Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures"} @@ -24750,21 +27703,21 @@ {"id": "Orphanet_748", "parentIds": ["Orphanet_183710"], "name": "Mendelian susceptibility to mycobacterial diseases"} {"id": "Orphanet_749", "parentIds": ["Orphanet_68334"], "name": "Congenital prekallikrein deficiency"} {"id": "Orphanet_75325", "parentIds": ["Orphanet_364526", "Orphanet_281244", "Orphanet_400022", "Orphanet_95710"], "name": "Osteosclerosis - ichthyosis - premature ovarian failure"} -{"id": "Orphanet_75376", "parentIds": ["Orphanet_71862"], "name": "Familial drusen"} +{"id": "Orphanet_75376", "parentIds": ["Orphanet_98657"], "name": "Familial drusen"} {"id": "Orphanet_75381", "parentIds": ["Orphanet_98666"], "name": "Cystoid macular dystrophy"} {"id": "Orphanet_75389", "parentIds": ["Orphanet_183763", "Orphanet_183530", "Orphanet_156532"], "name": "Brain malformation - congenital heart disease - postaxial polydactyly"} {"id": "Orphanet_75391", "parentIds": ["Orphanet_101988"], "name": "Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"} -{"id": "Orphanet_75496", "parentIds": ["Orphanet_371200", "Orphanet_371235", "MONDO_0019052", "Orphanet_93446", "MONDO_0020066", "Orphanet_364803"], "name": "Ehlers-Danlos syndrome, progeroid type"} -{"id": "Orphanet_758", "parentIds": ["EFO_0002945", "Orphanet_98702", "Orphanet_98056", "Orphanet_139027", "Orphanet_139030", "Orphanet_98054", "Orphanet_228215"], "name": "Pseudoxanthoma elasticum"} +{"id": "Orphanet_75496", "parentIds": ["Orphanet_371200", "EFO_0000589", "Orphanet_371235", "Orphanet_93446", "MONDO_0020066", "Orphanet_364803"], "name": "Ehlers-Danlos syndrome, progeroid type"} +{"id": "Orphanet_758", "parentIds": ["Orphanet_98702", "Orphanet_98056", "Orphanet_139027", "Orphanet_139030", "Orphanet_98054", "EFO_0000318", "Orphanet_228215"], "name": "Pseudoxanthoma elasticum"} {"id": "Orphanet_75840", "parentIds": ["Orphanet_207090", "Orphanet_206634"], "name": "Congenital muscular dystrophy, Ullrich type"} {"id": "Orphanet_766", "parentIds": ["Orphanet_79200", "Orphanet_98372"], "name": "Hemolytic anemia due to red cell pyruvate kinase deficiency"} {"id": "Orphanet_77258", "parentIds": ["Orphanet_364526", "Orphanet_68346", "Orphanet_139027"], "name": "Trichorhinophalangeal syndrome type 1 and 3"} {"id": "Orphanet_77259", "parentIds": ["MONDO_0018150", "Orphanet_399185"], "name": "Gaucher disease type 1"} {"id": "Orphanet_77260", "parentIds": ["Orphanet_71859", "MONDO_0018150"], "name": "Gaucher disease type 2"} {"id": "Orphanet_77261", "parentIds": ["Orphanet_71859", "MONDO_0018150", "Orphanet_399185"], "name": "Gaucher disease type 3"} -{"id": "Orphanet_77298", "parentIds": ["Orphanet_371445", "Orphanet_95495", "MONDO_0020147", "Orphanet_330197"], "name": "Anophthalmia/microphthalmia - esophageal atresia"} -{"id": "Orphanet_77299", "parentIds": ["Orphanet_183500", "Orphanet_183763", "MONDO_0020147"], "name": "Microphthalmia - brain atrophy"} -{"id": "Orphanet_773", "parentIds": ["MONDO_0957003", "Orphanet_207018", "Orphanet_98539", "Orphanet_98713", "Orphanet_281238", "MONDO_0017263", "Orphanet_183518", "Orphanet_98693", "MONDO_0019052", "Orphanet_98644"], "name": "Refsum disease"} +{"id": "Orphanet_77298", "parentIds": ["Orphanet_371445", "EFO_0700119", "Orphanet_95495", "Orphanet_330197"], "name": "Anophthalmia/microphthalmia - esophageal atresia"} +{"id": "Orphanet_77299", "parentIds": ["Orphanet_183500", "EFO_0700119", "Orphanet_183763", "MONDO_0004884"], "name": "Microphthalmia - brain atrophy"} +{"id": "Orphanet_773", "parentIds": ["Orphanet_207018", "Orphanet_98539", "Orphanet_98713", "MONDO_0004884", "Orphanet_281238", "EFO_0000589", "Orphanet_183518", "Orphanet_98693", "Orphanet_98644"], "name": "Refsum disease"} {"id": "Orphanet_77300", "parentIds": ["Orphanet_156237"], "name": "Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities"} {"id": "Orphanet_77302", "parentIds": ["Orphanet_183530"], "name": "Oculo-oto-facial dysplasia"} {"id": "Orphanet_77304", "parentIds": ["Orphanet_71859"], "name": "Not NOTCH3-related small vessel disease of the brain"} @@ -24773,9 +27726,9 @@ {"id": "Orphanet_77828", "parentIds": ["Orphanet_183573", "Orphanet_156638"], "name": "Genetic obesity"} {"id": "Orphanet_77830", "parentIds": ["EFO_0000508"], "name": "Rare genetic odontologic disease"} {"id": "Orphanet_79", "parentIds": ["Orphanet_68334"], "name": "Congenital alpha2 antiplasmin deficiency"} -{"id": "Orphanet_79062", "parentIds": ["MONDO_0019052"], "name": "Disorder of amino acid and other organic acid metabolism"} -{"id": "Orphanet_79084", "parentIds": ["MONDO_0020087", "Orphanet_156638", "Orphanet_183484"], "name": "Familial partial lipodystrophy, Köbberling type"} -{"id": "Orphanet_79085", "parentIds": ["Orphanet_183484", "Orphanet_156638", "MONDO_0020087"], "name": "Familial partial lipodystrophy due to AKT2 mutations"} +{"id": "Orphanet_79062", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Disorder of amino acid and other organic acid metabolism"} +{"id": "Orphanet_79084", "parentIds": ["Orphanet_156638", "Orphanet_183484", "EFO_1000727"], "name": "Familial partial lipodystrophy, Köbberling type"} +{"id": "Orphanet_79085", "parentIds": ["Orphanet_183484", "Orphanet_156638", "EFO_1000727"], "name": "Familial partial lipodystrophy due to AKT2 mutations"} {"id": "Orphanet_79091", "parentIds": ["Orphanet_206634"], "name": "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia"} {"id": "Orphanet_79095", "parentIds": ["EFO_0009039", "Orphanet_207018"], "name": "Congenital bile acid synthesis defect type 4"} {"id": "Orphanet_79107", "parentIds": ["Orphanet_90642", "Orphanet_370106", "Orphanet_183530"], "name": "Developmental malformations - deafness - dystonia"} @@ -24787,7 +27740,7 @@ {"id": "Orphanet_79144", "parentIds": ["Orphanet_79369"], "name": "Congenital onychodysplasia"} {"id": "Orphanet_79153", "parentIds": ["Orphanet_79369"], "name": "Autosomal dominant nail dysplasia"} {"id": "Orphanet_79156", "parentIds": ["Orphanet_289832"], "name": "Seizures - intellectual disability due to hydroxylysinuria"} -{"id": "Orphanet_79161", "parentIds": ["MONDO_0019052"], "name": "Disorder of carbohydrate metabolism"} +{"id": "Orphanet_79161", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Disorder of carbohydrate metabolism"} {"id": "Orphanet_79166", "parentIds": ["Orphanet_79062"], "name": "Disorder of amino acid absorption and transport"} {"id": "Orphanet_79167", "parentIds": ["Orphanet_79062"], "name": "Disorder of urea cycle metabolism and ammonia detoxification"} {"id": "Orphanet_79168", "parentIds": ["Orphanet_309005"], "name": "Disorder of bile acid synthesis"} @@ -24802,8 +27755,8 @@ {"id": "Orphanet_79185", "parentIds": ["Orphanet_79062"], "name": "Disorder of ornithine or proline metabolism"} {"id": "Orphanet_79186", "parentIds": ["Orphanet_79161"], "name": "Disorder of pentose phosphate metabolism"} {"id": "Orphanet_79187", "parentIds": ["Orphanet_79062"], "name": "Disorder of peptide metabolism"} -{"id": "Orphanet_79188", "parentIds": ["MONDO_0019052"], "name": "Peroxisomal beta-oxidation disorder"} -{"id": "Orphanet_79189", "parentIds": ["Orphanet_101940", "Orphanet_207018", "MONDO_0019052"], "name": "Peroxisome biogenesis disorder-Zellweger syndrome spectrum"} +{"id": "Orphanet_79188", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Peroxisomal beta-oxidation disorder"} +{"id": "Orphanet_79189", "parentIds": ["Orphanet_101940", "Orphanet_207018", "EFO_0000589"], "name": "Peroxisome biogenesis disorder-Zellweger syndrome spectrum"} {"id": "Orphanet_79190", "parentIds": ["Orphanet_79062"], "name": "Disorder of phenylalanin or tyrosine metabolism"} {"id": "Orphanet_79191", "parentIds": ["Orphanet_79224"], "name": "Disorder of purine metabolism"} {"id": "Orphanet_79192", "parentIds": ["Orphanet_79214"], "name": "Disorder of pyridoxine metabolism"} @@ -24811,12 +27764,12 @@ {"id": "Orphanet_79194", "parentIds": ["Orphanet_79062"], "name": "Disorder of serine or glycine metabolism"} {"id": "Orphanet_79196", "parentIds": ["Orphanet_79062"], "name": "Disorder of the gamma-glutamyl cycle"} {"id": "Orphanet_79197", "parentIds": ["Orphanet_79062"], "name": "Disorder of branched-chain amino acid metabolism"} -{"id": "Orphanet_79200", "parentIds": ["MONDO_0019052"], "name": "Disorder of energy metabolism"} +{"id": "Orphanet_79200", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Disorder of energy metabolism"} {"id": "Orphanet_79204", "parentIds": ["Orphanet_68366"], "name": "Lipid storage disease"} {"id": "Orphanet_79207", "parentIds": ["Orphanet_68366"], "name": "Disorder of lysosomal amino acid transport"} {"id": "Orphanet_79211", "parentIds": ["Orphanet_181422"], "name": "Combined hyperlipidemia"} -{"id": "Orphanet_79214", "parentIds": ["MONDO_0019052"], "name": "Disorder of biogenic amine metabolism and transport"} -{"id": "Orphanet_79224", "parentIds": ["MONDO_0019052"], "name": "Disorder of purine or pyrimidine metabolism"} +{"id": "Orphanet_79214", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Disorder of biogenic amine metabolism and transport"} +{"id": "Orphanet_79224", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Disorder of purine or pyrimidine metabolism"} {"id": "Orphanet_79254", "parentIds": ["Orphanet_79190", "Orphanet_71859"], "name": "Classical phenylketonuria"} {"id": "Orphanet_79258", "parentIds": ["Orphanet_364"], "name": "Glycogen storage disease due to glucose-6-phosphatase deficiency type a"} {"id": "Orphanet_79259", "parentIds": ["Orphanet_364", "Orphanet_331184"], "name": "Glycogen storage disease due to glucose-6-phosphatase deficiency type b"} @@ -24825,13 +27778,13 @@ {"id": "Orphanet_79283", "parentIds": ["Orphanet_26"], "name": "Methylmalonic acidemia with homocystinuria, type cblD"} {"id": "Orphanet_79284", "parentIds": ["Orphanet_26"], "name": "Methylmalonic acidemia with homocystinuria type cblF"} {"id": "Orphanet_79292", "parentIds": ["MONDO_0018999"], "name": "Fish-eye disease"} -{"id": "Orphanet_79293", "parentIds": ["MONDO_0019052", "Orphanet_182043", "MONDO_0018999"], "name": "Familial LCAT deficiency"} +{"id": "Orphanet_79293", "parentIds": ["Orphanet_182043", "MONDO_0018999"], "name": "Familial LCAT deficiency"} {"id": "Orphanet_79301", "parentIds": ["EFO_0009039"], "name": "Congenital bile acid synthesis defect type 1"} {"id": "Orphanet_79302", "parentIds": ["EFO_0009039"], "name": "Congenital bile acid synthesis defect type 3"} {"id": "Orphanet_79303", "parentIds": ["EFO_0009039"], "name": "Congenital bile acid synthesis defect type 2"} {"id": "Orphanet_79310", "parentIds": ["Orphanet_79171", "Orphanet_293355", "Orphanet_98056"], "name": "Vitamin B12-responsive methylmalonic acidemia type cblA"} {"id": "Orphanet_79311", "parentIds": ["Orphanet_98056", "Orphanet_79171", "Orphanet_293355"], "name": "Vitamin B12-responsive methylmalonic acidemia type cblB"} -{"id": "Orphanet_79322", "parentIds": ["Orphanet_371071", "MONDO_0019052"], "name": "DPM1-CDG"} +{"id": "Orphanet_79322", "parentIds": ["EFO_0000589", "Orphanet_371071"], "name": "DPM1-CDG"} {"id": "Orphanet_79350", "parentIds": ["Orphanet_79194"], "name": "3-phosphoserine phosphatase deficiency"} {"id": "Orphanet_79351", "parentIds": ["Orphanet_79194"], "name": "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form"} {"id": "Orphanet_79360", "parentIds": ["Orphanet_183426"], "name": "Other genetic epidermal disease"} @@ -24846,11 +27799,11 @@ {"id": "Orphanet_79399", "parentIds": ["Orphanet_158665"], "name": "Generalized epidermolysis bullosa simplex, non-Dowling-Meara type"} {"id": "Orphanet_79400", "parentIds": ["Orphanet_158665"], "name": "Localized epidermolysis bullosa simplex"} {"id": "Orphanet_79401", "parentIds": ["Orphanet_158665"], "name": "Epidermolysis bullosa simplex, Ogna type"} -{"id": "Orphanet_79402", "parentIds": ["Orphanet_183426", "Orphanet_139027", "MONDO_0019276"], "name": "Generalized junctional epidermolysis bullosa, non-Herlitz type"} -{"id": "Orphanet_79403", "parentIds": ["MONDO_0019276", "Orphanet_183426", "Orphanet_139027"], "name": "Junctional epidermolysis bullosa - pyloric atresia"} -{"id": "Orphanet_79404", "parentIds": ["Orphanet_263676", "Orphanet_183426", "Orphanet_139027", "MONDO_0019276"], "name": "Junctional epidermolysis bullosa, Herlitz type"} -{"id": "Orphanet_79452", "parentIds": ["Orphanet_98614", "MONDO_0100118"], "name": "Milroy disease"} -{"id": "Orphanet_79458", "parentIds": ["Orphanet_183487", "Orphanet_139027", "Orphanet_98598", "Orphanet_98580"], "name": "Oley syndrome"} +{"id": "Orphanet_79402", "parentIds": ["Orphanet_183426", "Orphanet_139027", "EFO_1000690"], "name": "Generalized junctional epidermolysis bullosa, non-Herlitz type"} +{"id": "Orphanet_79403", "parentIds": ["Orphanet_183426", "Orphanet_139027", "EFO_1000690"], "name": "Junctional epidermolysis bullosa - pyloric atresia"} +{"id": "Orphanet_79404", "parentIds": ["Orphanet_263676", "Orphanet_183426", "Orphanet_139027", "EFO_1000690"], "name": "Junctional epidermolysis bullosa, Herlitz type"} +{"id": "Orphanet_79452", "parentIds": ["EFO_0000701", "Orphanet_98614"], "name": "Milroy disease"} +{"id": "Orphanet_79458", "parentIds": ["Orphanet_183487", "EFO_1000934", "Orphanet_139027", "Orphanet_98598", "Orphanet_98580"], "name": "Oley syndrome"} {"id": "Orphanet_79473", "parentIds": ["Orphanet_95157"], "name": "Porphyria variegata"} {"id": "Orphanet_79476", "parentIds": ["Orphanet_381"], "name": "Griscelli disease type 1"} {"id": "Orphanet_79477", "parentIds": ["Orphanet_331184", "Orphanet_381", "Orphanet_183494", "Orphanet_331249"], "name": "Griscelli disease type 2"} @@ -24858,11 +27811,11 @@ {"id": "Orphanet_79499", "parentIds": ["Orphanet_139027", "Orphanet_90642", "Orphanet_68346", "Orphanet_183763"], "name": "Autosomal dominant deafness-onychodystrophy syndrome"} {"id": "Orphanet_79507", "parentIds": ["Orphanet_91088"], "name": "Hypotonia - failure to thrive - microcephaly"} {"id": "Orphanet_812", "parentIds": ["Orphanet_71859", "MONDO_0017734", "Orphanet_98714"], "name": "sialidosis type I"} -{"id": "Orphanet_816", "parentIds": ["Orphanet_352306", "Orphanet_281238", "Orphanet_98712", "Orphanet_98713", "Orphanet_71859", "Orphanet_98666", "MONDO_0017263"], "name": "Sjögren-Larsson syndrome"} +{"id": "Orphanet_816", "parentIds": ["Orphanet_352306", "Orphanet_281238", "Orphanet_98712", "Orphanet_98713", "Orphanet_71859", "Orphanet_98666"], "name": "Sjögren-Larsson syndrome"} {"id": "Orphanet_82004", "parentIds": ["Orphanet_285014", "MONDO_0020066"], "name": "Ehlers-Danlos syndrome with periventricular heterotopia"} -{"id": "Orphanet_83418", "parentIds": ["MONDO_0024257", "Orphanet_98505", "EFO_0008525"], "name": "Proximal spinal muscular atrophy type 2"} -{"id": "Orphanet_83419", "parentIds": ["Orphanet_98505", "EFO_0008525", "MONDO_0024257"], "name": "Proximal spinal muscular atrophy type 3"} -{"id": "Orphanet_83420", "parentIds": ["MONDO_0024257", "Orphanet_98505", "EFO_0008525"], "name": "Proximal spinal muscular atrophy type 4"} +{"id": "Orphanet_83418", "parentIds": ["Orphanet_98505", "EFO_0008525"], "name": "Proximal spinal muscular atrophy type 2"} +{"id": "Orphanet_83419", "parentIds": ["Orphanet_98505", "EFO_0008525"], "name": "Proximal spinal muscular atrophy type 3"} +{"id": "Orphanet_83420", "parentIds": ["Orphanet_98505", "EFO_0008525"], "name": "Proximal spinal muscular atrophy type 4"} {"id": "Orphanet_83471", "parentIds": ["Orphanet_331220"], "name": "Thymic aplasia"} {"id": "Orphanet_83473", "parentIds": ["Orphanet_269564"], "name": "Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus"} {"id": "Orphanet_83617", "parentIds": ["Orphanet_183763", "Orphanet_183530", "Orphanet_183494", "MONDO_0003778"], "name": "Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis"} @@ -24872,9 +27825,9 @@ {"id": "Orphanet_84064", "parentIds": ["Orphanet_156601", "Orphanet_363300"], "name": "Syndromic diarrhea"} {"id": "Orphanet_844", "parentIds": ["Orphanet_98054"], "name": "Atrial tachyarrhythmia with short PR interval"} {"id": "Orphanet_846", "parentIds": ["Orphanet_93614", "EFO_1001996"], "name": "Alpha-thalassemia"} -{"id": "Orphanet_847", "parentIds": ["Orphanet_98087", "EFO_1001996", "Orphanet_325638", "MONDO_0016980"], "name": "Alpha-thalassemia - X-linked intellectual disability syndrome"} +{"id": "Orphanet_847", "parentIds": ["Orphanet_98087", "EFO_1001996", "MONDO_0002334", "Orphanet_325638", "MONDO_0021148"], "name": "Alpha-thalassemia - X-linked intellectual disability syndrome"} {"id": "Orphanet_848", "parentIds": ["EFO_1001996", "Orphanet_93614"], "name": "Beta-thalassemia"} -{"id": "Orphanet_85112", "parentIds": ["Orphanet_325638", "Orphanet_307804", "Orphanet_325109"], "name": "Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma"} +{"id": "Orphanet_85112", "parentIds": ["MONDO_0021148", "Orphanet_325638", "Orphanet_307804", "Orphanet_325109"], "name": "Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma"} {"id": "Orphanet_85146", "parentIds": ["Orphanet_98505"], "name": "Scapuloperoneal amyotrophy"} {"id": "Orphanet_85163", "parentIds": ["Orphanet_98640", "Orphanet_183763"], "name": "Hypomyelination - congenital cataract"} {"id": "Orphanet_85164", "parentIds": ["MONDO_0019685", "Orphanet_93454"], "name": "Camptodactyly - tall stature - scoliosis - hearing loss"} @@ -24888,7 +27841,7 @@ {"id": "Orphanet_852", "parentIds": ["Orphanet_275729"], "name": "X-linked thrombocytopenia with normal platelets"} {"id": "Orphanet_85203", "parentIds": ["Orphanet_294959"], "name": "Acro-pectoral syndrome"} {"id": "Orphanet_85273", "parentIds": ["MONDO_0020119", "Orphanet_183530"], "name": "X-linked intellectual disability, Abidi type"} -{"id": "Orphanet_85275", "parentIds": ["MONDO_0020147", "MONDO_0020119", "Orphanet_183530"], "name": "Microphthalmia - ankyloblepharon - intellectual disability"} +{"id": "Orphanet_85275", "parentIds": ["MONDO_0020119", "EFO_0700119", "Orphanet_183530"], "name": "Microphthalmia - ankyloblepharon - intellectual disability"} {"id": "Orphanet_85279", "parentIds": ["Orphanet_183530", "Orphanet_166472", "MONDO_0020119"], "name": "Syndromic X-linked intellectual disability due to JARID1C mutation"} {"id": "Orphanet_85280", "parentIds": ["Orphanet_183530", "MONDO_0020119"], "name": "X-linked intellectual disability - cubitus valgus - dysmorphism"} {"id": "Orphanet_85286", "parentIds": ["Orphanet_183530", "MONDO_0020119"], "name": "X-linked intellectual disability, Shashi type"} @@ -24911,7 +27864,7 @@ {"id": "Orphanet_85337", "parentIds": ["MONDO_0020119"], "name": "X-linked intellectual disability, Zorick type"} {"id": "Orphanet_85338", "parentIds": ["MONDO_0020119", "MONDO_0016612"], "name": "X-linked intellectual disability - ataxia - apraxia"} {"id": "Orphanet_85442", "parentIds": ["Orphanet_95495"], "name": "Short stature - pituitary and cerebellar defects - small sella turcica"} -{"id": "Orphanet_85448", "parentIds": ["Orphanet_207021", "MONDO_0018634", "Orphanet_101435", "EFO_0009464"], "name": "Familial amyloidosis, Finnish type"} +{"id": "Orphanet_85448", "parentIds": ["Orphanet_207021", "Orphanet_101435", "EFO_0009464", "EFO_1001875"], "name": "Familial amyloidosis, Finnish type"} {"id": "Orphanet_85450", "parentIds": ["Orphanet_183586"], "name": "Familial renal amyloidosis"} {"id": "Orphanet_85453", "parentIds": ["Orphanet_183466", "EFO_0009464", "Orphanet_101435", "Orphanet_271870"], "name": "X-linked reticulate pigmentary disorder with systemic manifestations"} {"id": "Orphanet_85458", "parentIds": ["Orphanet_371439"], "name": "Hereditary cerebral hemorrhage with amyloidosis"} @@ -24919,12 +27872,12 @@ {"id": "Orphanet_860", "parentIds": ["Orphanet_183530"], "name": "Congenitally uncorrected transposition of the great arteries"} {"id": "Orphanet_868", "parentIds": ["Orphanet_98372", "Orphanet_71859", "Orphanet_79161"], "name": "Triose phosphate-isomerase deficiency"} {"id": "Orphanet_86818", "parentIds": ["Orphanet_183530", "MONDO_0020119", "Orphanet_98159", "Orphanet_182043"], "name": "Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis"} -{"id": "Orphanet_86821", "parentIds": ["Orphanet_48471"], "name": "Lissencephaly type 3 - familial fetal akinesia sequence"} -{"id": "Orphanet_86822", "parentIds": ["Orphanet_48471"], "name": "Lissencephaly type 3 - metacarpal bone dysplasia"} +{"id": "Orphanet_86821", "parentIds": ["Orphanet_166478"], "name": "Lissencephaly type 3 - familial fetal akinesia sequence"} +{"id": "Orphanet_86822", "parentIds": ["Orphanet_166478"], "name": "Lissencephaly type 3 - metacarpal bone dysplasia"} {"id": "Orphanet_869", "parentIds": ["Orphanet_371445", "Orphanet_207015", "Orphanet_98602", "Orphanet_101960"], "name": "Triple A syndrome"} {"id": "Orphanet_86914", "parentIds": ["EFO_0000701"], "name": "Lymphedema - cerebral arteriovenous anomaly"} {"id": "Orphanet_86915", "parentIds": ["EFO_0000701"], "name": "Lymphedema - atrial septal defects - facial changes"} -{"id": "Orphanet_86917", "parentIds": ["Orphanet_183530", "MONDO_0100118"], "name": "Lymphedema - cleft palate"} +{"id": "Orphanet_86917", "parentIds": ["Orphanet_183530", "EFO_0000701"], "name": "Lymphedema - cleft palate"} {"id": "Orphanet_86918", "parentIds": ["Orphanet_98352"], "name": "Diffuse palmoplantar keratoderma-acrocyanosis syndrome"} {"id": "Orphanet_86919", "parentIds": ["Orphanet_98352"], "name": "Keratosis palmaris et plantaris - clinodactyly"} {"id": "Orphanet_871", "parentIds": ["Orphanet_98054"], "name": "Familial progressive cardiac conduction defect"} @@ -24932,22 +27885,22 @@ {"id": "Orphanet_87884", "parentIds": ["Orphanet_96210"], "name": "Non-syndromic genetic deafness"} {"id": "Orphanet_882", "parentIds": ["Orphanet_183422", "Orphanet_101940", "Orphanet_79190", "Orphanet_207018", "Orphanet_98056"], "name": "Tyrosinemia type 1"} {"id": "Orphanet_88618", "parentIds": ["Orphanet_79173", "Orphanet_183763"], "name": "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency"} -{"id": "Orphanet_88628", "parentIds": ["MONDO_0957003", "Orphanet_98539", "Orphanet_183518", "Orphanet_98693"], "name": "Posterior column ataxia - retinitis pigmentosa"} +{"id": "Orphanet_88628", "parentIds": ["Orphanet_98539", "Orphanet_183518", "Orphanet_98693"], "name": "Posterior column ataxia - retinitis pigmentosa"} {"id": "Orphanet_88629", "parentIds": ["Orphanet_98658"], "name": "Tritanopia"} {"id": "Orphanet_88630", "parentIds": ["Orphanet_183466", "Orphanet_364803", "Orphanet_364526"], "name": "Terminal osseous dysplasia - pigmentary defects"} -{"id": "Orphanet_88632", "parentIds": ["Orphanet_183557", "MONDO_0020145"], "name": "Familial ocular anterior segment mesenchymal dysgenesis"} +{"id": "Orphanet_88632", "parentIds": ["Orphanet_183557"], "name": "Familial ocular anterior segment mesenchymal dysgenesis"} {"id": "Orphanet_88637", "parentIds": ["Orphanet_289494", "Orphanet_181387"], "name": "Hypomyelination - hypogonadotropic hypogonadism - hypodontia"} {"id": "Orphanet_88639", "parentIds": ["Orphanet_71859", "Orphanet_289899"], "name": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"} {"id": "Orphanet_88642", "parentIds": ["Orphanet_71859"], "name": "Channelopathy-associated congenital insensitivity to pain"} {"id": "Orphanet_88643", "parentIds": ["Orphanet_181396"], "name": "Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay"} -{"id": "Orphanet_88950", "parentIds": ["Orphanet_98056", "MONDO_0100191"], "name": "Autosomal dominant medullary cystic kidney disease with hyperuricemia"} -{"id": "Orphanet_891", "parentIds": ["Orphanet_98668", "Orphanet_71859"], "name": "Familial exudative vitreoretinopathy"} +{"id": "Orphanet_88950", "parentIds": ["Orphanet_98056", "EFO_0003086"], "name": "Autosomal dominant medullary cystic kidney disease with hyperuricemia"} +{"id": "Orphanet_891", "parentIds": ["Orphanet_71859", "Orphanet_98657"], "name": "Familial exudative vitreoretinopathy"} {"id": "Orphanet_89838", "parentIds": ["Orphanet_158665"], "name": "KRT14-related epidermolysis bullosa simplex"} -{"id": "Orphanet_89844", "parentIds": ["Orphanet_48471", "MONDO_0100118"], "name": "Lissencephaly syndrome, Norman-Roberts type"} +{"id": "Orphanet_89844", "parentIds": ["EFO_0000701", "Orphanet_166478"], "name": "Lissencephaly syndrome, Norman-Roberts type"} {"id": "Orphanet_89936", "parentIds": ["Orphanet_183634", "Orphanet_183592", "EFO_0005596", "Orphanet_93447"], "name": "X-linked hypophosphatemia"} {"id": "Orphanet_90", "parentIds": ["Orphanet_79167"], "name": "Argininemia"} -{"id": "Orphanet_90103", "parentIds": ["MONDO_0024257", "MONDO_0015626", "Orphanet_90642", "Orphanet_183763"], "name": "Charcot-Marie-Tooth disease - deafness - intellectual disability"} -{"id": "Orphanet_90119", "parentIds": ["Orphanet_71859", "MONDO_0024257", "MONDO_0015626"], "name": "Axonal Charcot-Marie-Tooth disease with acrodystrophy"} +{"id": "Orphanet_90103", "parentIds": ["MONDO_0015626", "Orphanet_90642", "EFO_0003782", "Orphanet_183763"], "name": "Charcot-Marie-Tooth disease - deafness - intellectual disability"} +{"id": "Orphanet_90119", "parentIds": ["Orphanet_71859", "EFO_0003782", "MONDO_0015626"], "name": "Axonal Charcot-Marie-Tooth disease with acrodystrophy"} {"id": "Orphanet_90185", "parentIds": ["Orphanet_289825"], "name": "Non-hereditary late-onset primary lymphedema"} {"id": "Orphanet_90186", "parentIds": ["Orphanet_289825"], "name": "Meige disease"} {"id": "Orphanet_903", "parentIds": ["Orphanet_68334"], "name": "Von Willebrand disease"} @@ -24961,12 +27914,12 @@ {"id": "Orphanet_90642", "parentIds": ["Orphanet_96210"], "name": "Syndromic genetic deafness"} {"id": "Orphanet_90646", "parentIds": ["Orphanet_90642", "Orphanet_181441"], "name": "Deafness - hypogonadism"} {"id": "Orphanet_90783", "parentIds": ["Orphanet_325357"], "name": "46,XY disorder of sex development due to testosterone synthesis defect"} -{"id": "Orphanet_90786", "parentIds": ["Orphanet_90783", "Orphanet_325632"], "name": "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect"} -{"id": "Orphanet_90787", "parentIds": ["Orphanet_90783", "Orphanet_325632"], "name": "46,XY disorder of sex development due to testicular steroidogenesis defect"} +{"id": "Orphanet_90786", "parentIds": ["Orphanet_325632", "MONDO_0021148", "Orphanet_90783"], "name": "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect"} +{"id": "Orphanet_90787", "parentIds": ["MONDO_0021148", "Orphanet_90783", "Orphanet_325632"], "name": "46,XY disorder of sex development due to testicular steroidogenesis defect"} {"id": "Orphanet_90796", "parentIds": ["Orphanet_90787"], "name": "46,XY disorder of sex development due to isolated 17,20 lyase deficiency"} -{"id": "Orphanet_91088", "parentIds": ["MONDO_0019052"], "name": "Other metabolic disease"} +{"id": "Orphanet_91088", "parentIds": ["EFO_0000589", "EFO_0000508"], "name": "Other metabolic disease"} {"id": "Orphanet_91130", "parentIds": ["Orphanet_79200", "Orphanet_217595", "Orphanet_183530"], "name": "Cardiomyopathy - hypotonia - lactic acidosis"} -{"id": "Orphanet_91132", "parentIds": ["Orphanet_281222", "MONDO_0100118"], "name": "Ichthyosis-hypotrichosis syndrome"} +{"id": "Orphanet_91132", "parentIds": ["EFO_0000701", "Orphanet_281222"], "name": "Ichthyosis-hypotrichosis syndrome"} {"id": "Orphanet_91133", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism"} {"id": "Orphanet_912", "parentIds": ["Orphanet_98666", "Orphanet_98650", "Orphanet_98713", "Orphanet_183530", "Orphanet_98712", "Orphanet_98056", "Orphanet_79189"], "name": "Zellweger syndrome"} {"id": "Orphanet_91411", "parentIds": ["Orphanet_98577"], "name": "Congenital ptosis"} @@ -24978,7 +27931,7 @@ {"id": "Orphanet_929", "parentIds": ["Orphanet_371445"], "name": "Achalasia - microcephaly"} {"id": "Orphanet_931", "parentIds": ["EFO_0005571", "Orphanet_294929"], "name": "Acheiropodia"} {"id": "Orphanet_93100", "parentIds": ["Orphanet_357506"], "name": "Unilateral renal agenesis"} -{"id": "Orphanet_93114", "parentIds": ["MONDO_0015626", "Orphanet_183586", "MONDO_0024257", "Orphanet_71859"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E"} +{"id": "Orphanet_93114", "parentIds": ["MONDO_0015626", "Orphanet_183586", "EFO_0003782", "Orphanet_71859"], "name": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E"} {"id": "Orphanet_93160", "parentIds": ["Orphanet_93447", "EFO_0005596", "Orphanet_183634"], "name": "Hypocalcemic vitamin D-resistant rickets"} {"id": "Orphanet_93172", "parentIds": ["Orphanet_357506"], "name": "Unilateral renal dysplasia"} {"id": "Orphanet_93173", "parentIds": ["Orphanet_357506"], "name": "Bilateral renal dysplasia"} @@ -25014,10 +27967,10 @@ {"id": "Orphanet_93560", "parentIds": ["Orphanet_85450"], "name": "Familial renal amyloidosis due to Apolipoprotein AI variant"} {"id": "Orphanet_93561", "parentIds": ["Orphanet_85450"], "name": "Familial renal amyloidosis due to lysozyme variant"} {"id": "Orphanet_93562", "parentIds": ["Orphanet_85450"], "name": "Familial renal amyloidosis due to fibrinogen A alpha-chain variant"} -{"id": "Orphanet_93591", "parentIds": ["Orphanet_98056", "MONDO_0100191"], "name": "Infantile nephronophthisis"} -{"id": "Orphanet_93592", "parentIds": ["Orphanet_98056", "MONDO_0100191"], "name": "Juvenile nephronophthisis"} +{"id": "Orphanet_93591", "parentIds": ["Orphanet_98056", "EFO_0003086"], "name": "Infantile nephronophthisis"} +{"id": "Orphanet_93592", "parentIds": ["Orphanet_98056", "EFO_0003086"], "name": "Juvenile nephronophthisis"} {"id": "Orphanet_93594", "parentIds": ["Orphanet_101940", "Orphanet_156610", "Orphanet_91088"], "name": "Alpha-1-antichymotrypsin deficiency"} -{"id": "Orphanet_93610", "parentIds": ["MONDO_0100191", "Orphanet_183592", "EFO_0009566", "Orphanet_98364"], "name": "Distal renal tubular acidosis with anemia"} +{"id": "Orphanet_93610", "parentIds": ["Orphanet_183592", "EFO_0009566", "Orphanet_98364"], "name": "Distal renal tubular acidosis with anemia"} {"id": "Orphanet_93614", "parentIds": ["Orphanet_98056", "EFO_0005803"], "name": "Hematological disorder with renal involvement"} {"id": "Orphanet_93951", "parentIds": ["Orphanet_2076"], "name": "X-linked dominant intellectual disability - epilepsy syndrome"} {"id": "Orphanet_93952", "parentIds": ["Orphanet_2076"], "name": "X-linked intellectual disability, Hedera type"} @@ -25028,17 +27981,17 @@ {"id": "Orphanet_94061", "parentIds": ["MONDO_0003778"], "name": "Macrocephaly - immune deficiency - anemia"} {"id": "Orphanet_94065", "parentIds": ["Orphanet_183763", "Orphanet_98142", "Orphanet_183530"], "name": "15q24 microdeletion syndrome"} {"id": "Orphanet_94066", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia"} -{"id": "Orphanet_94095", "parentIds": ["Orphanet_93454", "Orphanet_183763", "Orphanet_183545", "Orphanet_156622"], "name": "Spondylocostal dysostosis - anal and genitourinary malformations"} -{"id": "Orphanet_94122", "parentIds": ["Orphanet_98693", "Orphanet_98539", "Orphanet_183518", "MONDO_0957003"], "name": "Cerebellar ataxia, Cayman type"} +{"id": "Orphanet_94095", "parentIds": ["Orphanet_93454", "Orphanet_183763", "Orphanet_183545", "Orphanet_156622", "EFO_0003820"], "name": "Spondylocostal dysostosis - anal and genitourinary malformations"} +{"id": "Orphanet_94122", "parentIds": ["Orphanet_98693", "Orphanet_98539", "Orphanet_183518"], "name": "Cerebellar ataxia, Cayman type"} {"id": "Orphanet_94124", "parentIds": ["Orphanet_98097"], "name": "Spinocerebellar ataxia type 1 with axonal neuropathy"} -{"id": "Orphanet_94145", "parentIds": ["Orphanet_98693", "Orphanet_98540", "Orphanet_183518", "MONDO_0957003"], "name": "Autosomal dominant cerebellar ataxia type 1"} -{"id": "Orphanet_94148", "parentIds": ["Orphanet_98693", "Orphanet_98540", "MONDO_0957003", "Orphanet_183518"], "name": "Autosomal dominant cerebellar ataxia type 3"} -{"id": "Orphanet_94149", "parentIds": ["Orphanet_98693", "MONDO_0957003", "Orphanet_183518", "Orphanet_98540"], "name": "Autosomal dominant cerebellar ataxia type 4"} +{"id": "Orphanet_94145", "parentIds": ["Orphanet_98693", "Orphanet_98540", "Orphanet_183518"], "name": "Autosomal dominant cerebellar ataxia type 1"} +{"id": "Orphanet_94148", "parentIds": ["Orphanet_98693", "Orphanet_98540", "Orphanet_183518"], "name": "Autosomal dominant cerebellar ataxia type 3"} +{"id": "Orphanet_94149", "parentIds": ["Orphanet_98693", "Orphanet_183518", "Orphanet_98540"], "name": "Autosomal dominant cerebellar ataxia type 4"} {"id": "Orphanet_94150", "parentIds": ["Orphanet_79143"], "name": "Anonychia congenita totalis"} {"id": "Orphanet_95157", "parentIds": ["Orphanet_183490", "Orphanet_309813", "Orphanet_98056", "Orphanet_79387", "Orphanet_207018"], "name": "Acute hepatic porphyria"} {"id": "Orphanet_95430", "parentIds": ["Orphanet_183554", "Orphanet_96333"], "name": "Congenital tracheomalacia"} -{"id": "Orphanet_95433", "parentIds": ["Orphanet_98693", "MONDO_0957003", "Orphanet_183518", "Orphanet_98539"], "name": "Autosomal recessive cerebellar ataxia - blindness - deafness"} -{"id": "Orphanet_95434", "parentIds": ["MONDO_0957003", "Orphanet_98539", "Orphanet_183518", "Orphanet_98693"], "name": "Autosomal recessive cerebellar ataxia - saccadic intrusion"} +{"id": "Orphanet_95433", "parentIds": ["Orphanet_98693", "Orphanet_183518", "Orphanet_98539"], "name": "Autosomal recessive cerebellar ataxia - blindness - deafness"} +{"id": "Orphanet_95434", "parentIds": ["Orphanet_98539", "Orphanet_183518", "Orphanet_98693"], "name": "Autosomal recessive cerebellar ataxia - saccadic intrusion"} {"id": "Orphanet_95494", "parentIds": ["Orphanet_178025", "Orphanet_181390"], "name": "Combined pituitary hormone deficiencies, genetic forms"} {"id": "Orphanet_95495", "parentIds": ["Orphanet_183628"], "name": "Disease associated with non-acquired combined pituitary hormone deficiency"} {"id": "Orphanet_956", "parentIds": ["Orphanet_294959", "Orphanet_183539"], "name": "Acro-pectoro-renal dysplasia"} @@ -25046,10 +27999,10 @@ {"id": "Orphanet_95710", "parentIds": ["EFO_0005771", "Orphanet_156638"], "name": "Non-acquired premature ovarian failure"} {"id": "Orphanet_95711", "parentIds": ["Orphanet_181396"], "name": "Congenital hypothyroidism due to developmental anomaly"} {"id": "Orphanet_95714", "parentIds": ["Orphanet_181396"], "name": "Primary congenital hypothyroidism without thyroid developmental anomaly"} -{"id": "Orphanet_96", "parentIds": ["Orphanet_98713", "Orphanet_309827", "MONDO_0957003", "Orphanet_98693", "Orphanet_183518", "Orphanet_98539", "Orphanet_207018"], "name": "Ataxia with vitamin E deficiency"} +{"id": "Orphanet_96", "parentIds": ["Orphanet_98713", "Orphanet_309827", "Orphanet_98693", "Orphanet_183518", "Orphanet_98539", "Orphanet_207018", "MONDO_0004884"], "name": "Ataxia with vitamin E deficiency"} {"id": "Orphanet_96078", "parentIds": ["Orphanet_98132"], "name": "16p13.3 microduplication syndrome"} {"id": "Orphanet_96136", "parentIds": ["Orphanet_98142"], "name": "Non-distal monosomy 7p"} -{"id": "Orphanet_96210", "parentIds": ["MONDO_0037940"], "name": "Rare genetic deafness"} +{"id": "Orphanet_96210", "parentIds": ["EFO_1001455", "EFO_0000508"], "name": "Rare genetic deafness"} {"id": "Orphanet_96333", "parentIds": ["Orphanet_183530"], "name": "Rare otorhinolaryngological malformation"} {"id": "Orphanet_968", "parentIds": ["Orphanet_364526"], "name": "Acromesomelic dysplasia, Hunter-Thomson type"} {"id": "Orphanet_97", "parentIds": ["Orphanet_183518"], "name": "Familial paroxysmal ataxia"} @@ -25062,9 +28015,9 @@ {"id": "Orphanet_98054", "parentIds": ["EFO_0003777", "EFO_0000508"], "name": "Rare genetic cardiac disease"} {"id": "Orphanet_98056", "parentIds": ["EFO_0009690", "EFO_0000508"], "name": "Rare genetic renal disease"} {"id": "Orphanet_98074", "parentIds": ["Orphanet_325665"], "name": "Gonadal dysgenesis of gynecological interest"} -{"id": "Orphanet_98086", "parentIds": ["Orphanet_325632", "Orphanet_325357"], "name": "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue"} +{"id": "Orphanet_98086", "parentIds": ["Orphanet_325632", "Orphanet_325357", "MONDO_0021148"], "name": "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue"} {"id": "Orphanet_98087", "parentIds": ["Orphanet_325706"], "name": "Syndrome with 46,XY disorder of sex development"} -{"id": "Orphanet_98097", "parentIds": ["MONDO_0957003", "Orphanet_98539", "Orphanet_98693", "Orphanet_183518"], "name": "Autosomal recessive cerebellar ataxia due to a DNA repair defect"} +{"id": "Orphanet_98097", "parentIds": ["Orphanet_98693", "Orphanet_98539", "Orphanet_183518"], "name": "Autosomal recessive cerebellar ataxia due to a DNA repair defect"} {"id": "Orphanet_98130", "parentIds": ["Orphanet_68335"], "name": "Autosomal trisomy"} {"id": "Orphanet_98131", "parentIds": ["Orphanet_98130"], "name": "Total autosomal trisomy"} {"id": "Orphanet_98132", "parentIds": ["Orphanet_98130"], "name": "Partial autosomal trisomy/tetrasomy"} @@ -25079,7 +28032,7 @@ {"id": "Orphanet_98159", "parentIds": ["Orphanet_98157"], "name": "Chromosome X structural anomaly"} {"id": "Orphanet_98196", "parentIds": ["Orphanet_183530"], "name": "Malformation syndrome with hamartosis"} {"id": "Orphanet_98261", "parentIds": ["Orphanet_183512"], "name": "Progressive myoclonic epilepsy"} -{"id": "Orphanet_983", "parentIds": ["MONDO_0957024", "MONDO_0017961", "Orphanet_98313"], "name": "Testicular regression syndrome"} +{"id": "Orphanet_983", "parentIds": ["Orphanet_98313"], "name": "Testicular regression syndrome"} {"id": "Orphanet_98313", "parentIds": ["Orphanet_399764"], "name": "Male infertility due to gonadal dysgenesis"} {"id": "Orphanet_98352", "parentIds": ["Orphanet_307711"], "name": "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature"} {"id": "Orphanet_98353", "parentIds": ["Orphanet_307871"], "name": "Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature"} @@ -25143,9 +28096,8 @@ {"id": "Orphanet_98650", "parentIds": ["Orphanet_98643"], "name": "Craniofacial anomaly with cataract"} {"id": "Orphanet_98657", "parentIds": ["Orphanet_101435"], "name": "Genetic vitreous-retinal disease"} {"id": "Orphanet_98658", "parentIds": ["Orphanet_98657"], "name": "Color-vision disease"} -{"id": "Orphanet_98662", "parentIds": ["Orphanet_71862"], "name": "Unclassified familial retinal dystrophy"} -{"id": "Orphanet_98666", "parentIds": ["Orphanet_71862"], "name": "Unclassified primitive or secondary maculopathy"} -{"id": "Orphanet_98668", "parentIds": ["Orphanet_98657"], "name": "Vitreoretinopathy"} +{"id": "Orphanet_98662", "parentIds": ["Orphanet_98657"], "name": "Unclassified familial retinal dystrophy"} +{"id": "Orphanet_98666", "parentIds": ["Orphanet_98657"], "name": "Unclassified primitive or secondary maculopathy"} {"id": "Orphanet_98671", "parentIds": ["Orphanet_101435"], "name": "Optic neuropathy"} {"id": "Orphanet_98673", "parentIds": ["MONDO_0043878", "Orphanet_254822"], "name": "Autosomal dominant optic atrophy, classic type"} {"id": "Orphanet_98676", "parentIds": ["MONDO_0043878"], "name": "Autosomal recessive isolated optic atrophy"} @@ -25156,15 +28108,15 @@ {"id": "Orphanet_98688", "parentIds": ["Orphanet_183616"], "name": "Oculomotor apraxia or related oculomotor disease"} {"id": "Orphanet_98689", "parentIds": ["Orphanet_183616"], "name": "Myopathy with eye involvement"} {"id": "Orphanet_98690", "parentIds": ["Orphanet_98689"], "name": "Myasthenic syndrome with eye involvement"} -{"id": "Orphanet_98693", "parentIds": ["MONDO_0015368"], "name": "Spinocerebellar ataxia with oculomotor anomaly"} -{"id": "Orphanet_98694", "parentIds": ["MONDO_0015368"], "name": "Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly"} +{"id": "Orphanet_98693", "parentIds": ["Orphanet_71859"], "name": "Spinocerebellar ataxia with oculomotor anomaly"} +{"id": "Orphanet_98694", "parentIds": ["Orphanet_71859"], "name": "Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly"} {"id": "Orphanet_98695", "parentIds": ["Orphanet_98710"], "name": "Mitochondrial disease with eye involvement"} {"id": "Orphanet_98696", "parentIds": ["Orphanet_101435"], "name": "Genodermatosis with ocular features"} {"id": "Orphanet_98697", "parentIds": ["Orphanet_98696"], "name": "Genetic keratinization disorder associated with ocular features"} {"id": "Orphanet_98698", "parentIds": ["Orphanet_98697"], "name": "Ichthyosis associated with ocular features"} {"id": "Orphanet_98700", "parentIds": ["Orphanet_98696"], "name": "Pigmentation disorder with eye involvement"} {"id": "Orphanet_98701", "parentIds": ["Orphanet_98696"], "name": "Phakomatosis with eye involvement"} -{"id": "Orphanet_98702", "parentIds": ["MONDO_0023603", "Orphanet_101435"], "name": "Connective tissue disease with eye involvement"} +{"id": "Orphanet_98702", "parentIds": ["EFO_1001986", "Orphanet_101435"], "name": "Connective tissue disease with eye involvement"} {"id": "Orphanet_98703", "parentIds": ["Orphanet_98696"], "name": "Disease with potential neoplastic degeneration associated with ocular features"} {"id": "Orphanet_98704", "parentIds": ["Orphanet_98696"], "name": "Onycho-patellar syndrome with eye involvement"} {"id": "Orphanet_98708", "parentIds": ["Orphanet_98700"], "name": "Pigmentation disorder with eye involvement, excluding albinism"} @@ -25184,7 +28136,7 @@ {"id": "Orphanet_98813", "parentIds": ["MONDO_0016535"], "name": "Hypohidrotic ectodermal dysplasia with immunodeficiency"} {"id": "Orphanet_98869", "parentIds": ["Orphanet_183651"], "name": "Congenital dyserythropoietic anemia type I"} {"id": "Orphanet_98870", "parentIds": ["Orphanet_183651"], "name": "Congenital dyserythropoietic anemia type III"} -{"id": "Orphanet_98873", "parentIds": ["Orphanet_183651", "MONDO_0019052"], "name": "Congenital dyserythropoietic anemia type II"} +{"id": "Orphanet_98873", "parentIds": ["Orphanet_183651", "EFO_0000589"], "name": "Congenital dyserythropoietic anemia type II"} {"id": "Orphanet_98880", "parentIds": ["Orphanet_68334"], "name": "Familial afibrinogenemia"} {"id": "Orphanet_98885", "parentIds": ["Orphanet_275736"], "name": "Bleeding diathesis due to glycoprotein VI deficiency"} {"id": "Orphanet_98890", "parentIds": ["MONDO_0020249", "MONDO_0020119"], "name": "Early-onset X-linked optic atrophy"} @@ -25210,11 +28162,11 @@ {"id": "Orphanet_98993", "parentIds": ["MONDO_0011060"], "name": "Posterior polar cataract"} {"id": "Orphanet_98994", "parentIds": ["MONDO_0011060"], "name": "Total congenital cataract"} {"id": "Orphanet_990", "parentIds": ["Orphanet_183763", "Orphanet_183530"], "name": "Agnathia - holoprosencephaly - situs inversus"} -{"id": "Orphanet_99001", "parentIds": ["Orphanet_71862"], "name": "Butterfly-shaped pigment dystrophy"} +{"id": "Orphanet_99001", "parentIds": ["Orphanet_98657"], "name": "Butterfly-shaped pigment dystrophy"} {"id": "Orphanet_99013", "parentIds": ["Orphanet_183500", "Orphanet_35696"], "name": "Autosomal recessive spastic paraplegia type 7"} -{"id": "Orphanet_99014", "parentIds": ["MONDO_0020249", "Orphanet_79191", "Orphanet_64747", "Orphanet_140462"], "name": "X-linked Charcot-Marie-Tooth disease type 5"} -{"id": "Orphanet_99015", "parentIds": ["Orphanet_183500", "MONDO_0020249"], "name": "Spastic paraplegia type 2"} -{"id": "Orphanet_99027", "parentIds": ["Orphanet_98132", "Orphanet_71859", "MONDO_0957003"], "name": "Adult-onset autosomal dominant leukodystrophy"} +{"id": "Orphanet_99014", "parentIds": ["MONDO_0020249", "Orphanet_79191", "Orphanet_64747", "Orphanet_140462", "MONDO_0004884"], "name": "X-linked Charcot-Marie-Tooth disease type 5"} +{"id": "Orphanet_99015", "parentIds": ["MONDO_0004884", "Orphanet_183500", "MONDO_0020249"], "name": "Spastic paraplegia type 2"} +{"id": "Orphanet_99027", "parentIds": ["Orphanet_98132", "Orphanet_71859"], "name": "Adult-onset autosomal dominant leukodystrophy"} {"id": "Orphanet_99044", "parentIds": ["Orphanet_183530"], "name": "Double outlet right ventricle with subaortic ventricular septal defect"} {"id": "Orphanet_99047", "parentIds": ["Orphanet_183530"], "name": "Double outlet right ventricle with doubly committed ventricular septal defect"} {"id": "Orphanet_99095", "parentIds": ["Orphanet_183530", "EFO_0003777"], "name": "Gerbode defect"} @@ -25223,10 +28175,10 @@ {"id": "Orphanet_99177", "parentIds": ["Orphanet_98600"], "name": "Isolated distichiasis"} {"id": "Orphanet_99723", "parentIds": ["Orphanet_165652", "EFO_0009544"], "name": "Familial esophageal achalasia"} {"id": "Orphanet_99739", "parentIds": ["Orphanet_98054"], "name": "Rare familial disorder with hypertrophic cardiomyopathy"} -{"id": "Orphanet_99750", "parentIds": ["Orphanet_98685", "Orphanet_276061", "EFO_0000677", "EFO_0005815", "Orphanet_306708"], "name": "Atypical progressive supranuclear palsy"} +{"id": "Orphanet_99750", "parentIds": ["Orphanet_98685", "Orphanet_276061", "MONDO_0004884", "EFO_0000677", "EFO_0005815", "Orphanet_306708"], "name": "Atypical progressive supranuclear palsy"} {"id": "Orphanet_99792", "parentIds": ["Orphanet_77830"], "name": "Dentin dysplasia - sclerotic bones"} {"id": "Orphanet_998", "parentIds": ["Orphanet_90642", "Orphanet_183469"], "name": "Albinism-deafness syndrome"} -{"id": "Orphanet_99807", "parentIds": ["EFO_0000618", "MONDO_0100118", "Orphanet_183512"], "name": "PEHO-like syndrome"} +{"id": "Orphanet_99807", "parentIds": ["EFO_0000701", "Orphanet_183512", "MONDO_0100545"], "name": "PEHO-like syndrome"} {"id": "Orphanet_99811", "parentIds": ["Orphanet_104009"], "name": "Neuronal intestinal pseudoobstruction"} {"id": "Orphanet_99812", "parentIds": ["Orphanet_101972", "Orphanet_183530", "Orphanet_183422"], "name": "LIG4 syndrome"} {"id": "Orphanet_99817", "parentIds": ["Orphanet_68336", "MONDO_0005835"], "name": "Non-polyposis Turcot syndrome"} diff --git a/packages/sections/src/disease/Ontology/Body.jsx b/packages/sections/src/disease/Ontology/Body.jsx index ce0c53ea7..7cb3dd490 100644 --- a/packages/sections/src/disease/Ontology/Body.jsx +++ b/packages/sections/src/disease/Ontology/Body.jsx @@ -12,20 +12,22 @@ function Body({ id: efoId, label: name, entity }) { filteredNodes: null, }); - useEffect(() => { - let isCurrent = true; + function requestEfoNodes() { fetch(config.efoURL) .then(res => res.text()) .then(lines => { - if (isCurrent) { - const nodes = lines.trim().split("\n").map(JSON.parse); - const idToDisease = nodes.reduce((acc, disease) => { - acc[disease.id] = disease; - return acc; - }, {}); - setEfoNodes({ allNodes: nodes, filteredNodes: idToDisease }); - } + const nodes = lines.trim().split("\n").map(JSON.parse); + const idToDisease = nodes.reduce((acc, disease) => { + acc[disease.id] = disease; + return acc; + }, {}); + setEfoNodes({ allNodes: nodes, filteredNodes: idToDisease }); }); + } + + useEffect(() => { + let isCurrent = true; + if (isCurrent) requestEfoNodes(); return () => { isCurrent = false; diff --git a/packages/sections/src/disease/Ontology/OntologySubgraph.jsx b/packages/sections/src/disease/Ontology/OntologySubgraph.jsx index f67e37b18..7ea5ee345 100644 --- a/packages/sections/src/disease/Ontology/OntologySubgraph.jsx +++ b/packages/sections/src/disease/Ontology/OntologySubgraph.jsx @@ -35,6 +35,8 @@ function getAncestors(efoId, idToDisease) { function buildDagData(efoId, efo, idToDisease) { const dag = []; + if (!efo) return dag; + // find direct children of efoId efo.forEach(disease => { if (disease.parentIds.includes(efoId)) { @@ -112,6 +114,7 @@ const line = d3Line().curve(curveMonotoneX); function OntologySubgraph({ efoId, efo, name, idToDisease, measureRef, contentRect }) { const classes = useStyles(); const { width } = contentRect.bounds; + if (!efo) return null; const dagData = buildDagData(efoId, efo, idToDisease); const dag = dagStratify()(dagData); const maxLayerCount = getMaxLayerCount(dag); From 13cc62ca58e0c3734c693544bb985f5409f6984c Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Fri, 8 Nov 2024 17:11:20 +0000 Subject: [PATCH 017/120] [Platform]: Variant page review (#524) --- apps/platform/.env | 2 +- .../src/pages/VariantPage/Profile.tsx | 29 +-- packages/sections/src/constants.js | 5 + .../src/variant/GWASCredibleSets/Body.tsx | 78 +++++---- .../GWASCredibleSetsQuery.gql | 13 +- .../src/variant/QTLCredibleSets/Body.tsx | 46 +++-- .../variant/QTLCredibleSets/Description.tsx | 14 +- .../QTLCredibleSets/QTLCredibleSetsQuery.gql | 21 +-- .../variant/VariantEffectPredictor/Body.tsx | 165 ++++++++++++------ .../VariantEffectPredictor/Description.tsx | 4 +- .../VariantEffectPredictorQuery.gql | 5 +- .../variant/VariantEffectPredictor/index.ts | 4 +- packages/ui/src/components/Chip.tsx | 9 +- packages/ui/src/components/Link.tsx | 4 +- .../ui/src/components/OtScoreLinearBar.tsx | 16 ++ packages/ui/src/components/Tooltip.jsx | 9 +- packages/ui/src/index.tsx | 1 + 17 files changed, 262 insertions(+), 163 deletions(-) create mode 100644 packages/ui/src/components/OtScoreLinearBar.tsx diff --git a/apps/platform/.env b/apps/platform/.env index 10e7d0df2..4ceb89976 100644 --- a/apps/platform/.env +++ b/apps/platform/.env @@ -1,3 +1,3 @@ -VITE_API_URL=https://api.genetics.dev.opentargets.xyz/api/v4/graphql +VITE_API_URL=https://api.platform.dev.opentargets.xyz/api/v4/graphql VITE_AI_API_URL=https://dev-ai-api-w37vlfsidq-ew.a.run.app VITE_PROFILE=default \ No newline at end of file diff --git a/apps/platform/src/pages/VariantPage/Profile.tsx b/apps/platform/src/pages/VariantPage/Profile.tsx index e9f5e5346..f723fa17b 100644 --- a/apps/platform/src/pages/VariantPage/Profile.tsx +++ b/apps/platform/src/pages/VariantPage/Profile.tsx @@ -18,9 +18,7 @@ import QTLCredibleSetsSummary from "sections/src/variant/QTLCredibleSets/Summary import client from "../../client"; import ProfileHeader from "./ProfileHeader"; -const PharmacogenomicsSection = lazy( - () => import("sections/src/variant/Pharmacogenomics/Body") -); +const PharmacogenomicsSection = lazy(() => import("sections/src/variant/Pharmacogenomics/Body")); const InSilicoPredictorsSection = lazy( () => import("sections/src/variant/InSilicoPredictors/Body") ); @@ -28,15 +26,9 @@ const VariantEffectPredictorSection = lazy( () => import("sections/src/variant/VariantEffectPredictor/Body") ); const EVASection = lazy(() => import("sections/src/variant/EVA/Body")); -const UniProtVariantsSection = lazy( - () => import("sections/src/variant/UniProtVariants/Body") -); -const GWASCredibleSetsSection = lazy( - () => import("sections/src/variant/GWASCredibleSets/Body") -); -const QTLCredibleSetsSection = lazy( - () => import("sections/src/variant/QTLCredibleSets/Body") -); +const UniProtVariantsSection = lazy(() => import("sections/src/variant/UniProtVariants/Body")); +const GWASCredibleSetsSection = lazy(() => import("sections/src/variant/GWASCredibleSets/Body")); +const QTLCredibleSetsSection = lazy(() => import("sections/src/variant/QTLCredibleSets/Body")); const summaries = [ PharmacogenomicsSummary, @@ -49,10 +41,7 @@ const summaries = [ ]; const VARIANT = "variant"; -const VARIANT_PROFILE_SUMMARY_FRAGMENT = summaryUtils.createSummaryFragment( - summaries, - "Variant" -); +const VARIANT_PROFILE_SUMMARY_FRAGMENT = summaryUtils.createSummaryFragment(summaries, "Variant"); const VARIANT_PROFILE_QUERY = gql` query VariantProfileQuery($variantId: String!) { variant(variantId: $variantId) { @@ -80,19 +69,16 @@ function Profile({ varId }: ProfileProps) { - + - }> - - }> @@ -111,6 +97,9 @@ function Profile({ varId }: ProfileProps) { }> + }> + + ); diff --git a/packages/sections/src/constants.js b/packages/sections/src/constants.js index 65d6d54f6..6aa97ee09 100644 --- a/packages/sections/src/constants.js +++ b/packages/sections/src/constants.js @@ -66,13 +66,18 @@ export const sourceMap = { export const clinvarStarMap = { "practice guideline": 4, + "SuSiE fine-mapped credible set with in-sample LD": 4, "reviewed by expert panel": 3, + "SuSiE fine-mapped credible set with out-of-sample LD": 3, "criteria provided, multiple submitters, no conflicts": 2, + "PICS fine-mapped credible set extracted from summary statistics": 2, "criteria provided, conflicting interpretations": 1, "criteria provided, single submitter": 1, + "PICS fine-mapped credible set based on reported top hit": 1, "no assertion for the individual variant": 0, "no assertion criteria provided": 0, "no assertion provided": 0, + "Unknown confidence": 0, }; export const formatMap = { diff --git a/packages/sections/src/variant/GWASCredibleSets/Body.tsx b/packages/sections/src/variant/GWASCredibleSets/Body.tsx index 6c0d1719a..dcf219686 100644 --- a/packages/sections/src/variant/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/variant/GWASCredibleSets/Body.tsx @@ -1,7 +1,16 @@ import { useQuery } from "@apollo/client"; -import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable } from "ui"; +import { + Link, + SectionItem, + ScientificNotation, + DisplayVariantId, + OtTable, + Tooltip, + ClinvarStars, + OtScoreLinearBar, +} from "ui"; import { Box, Chip } from "@mui/material"; -import { naLabel } from "../../constants"; +import { clinvarStarMap, naLabel } from "../../constants"; import { definition } from "."; import Description from "./Description"; import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; @@ -23,11 +32,11 @@ function getColumns({ }: getColumnsType) { return [ { - id: "view", - label: "Details", - renderCell: ({ studyLocusId }) => view, - filterValue: false, - exportValue: false, + id: "studyLocusId", + label: "More details", + renderCell: ({ studyLocusId }) => ( + {studyLocusId} + ), }, { id: "leadVariant", @@ -151,26 +160,18 @@ function getColumns({ exportValue: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3), }, { - id: "ldr2", - label: "LD (r²)", - filterValue: false, - tooltip: ( - <> - Linkage disequilibrium with the fixed page variant ( - - ). - - ), - renderCell: ({ locus }) => { - const r2 = locus?.find(obj => obj.variant?.id === id)?.r2Overall; - if (typeof r2 !== "number") return naLabel; - return r2.toFixed(2); + id: "confidence", + label: "Confidence", + sortable: true, + renderCell: ({ confidence }) => { + if (!confidence) return naLabel; + return ( + + + + ); }, + filterValue: ({ confidence }) => clinvarStarMap[confidence], }, { id: "finemappingMethod", @@ -179,27 +180,28 @@ function getColumns({ { id: "topL2G", label: "Top L2G", - filterValue: ({ strongestLocus2gene }) => strongestLocus2gene?.target.approvedSymbol, + filterValue: ({ l2Gpredictions }) => l2Gpredictions?.target.approvedSymbol, tooltip: "Top gene prioritised by our locus-to-gene model", - renderCell: ({ strongestLocus2gene }) => { - if (!strongestLocus2gene?.target) return naLabel; - const { target } = strongestLocus2gene; + renderCell: ({ l2Gpredictions }) => { + if (!l2Gpredictions[0]?.target) return naLabel; + const { target } = l2Gpredictions[0]; return {target.approvedSymbol}; }, - exportValue: ({ strongestLocus2gene }) => strongestLocus2gene?.target.approvedSymbol, + exportValue: ({ l2Gpredictions }) => l2Gpredictions?.target.approvedSymbol, }, { id: "l2gScore", label: "L2G score", - comparator: (rowA, rowB) => - rowA?.strongestLocus2gene?.score - rowB?.strongestLocus2gene?.score, + comparator: (rowA, rowB) => rowA?.l2Gpredictions[0]?.score - rowB?.l2Gpredictions[0]?.score, sortable: true, - filterValue: false, - renderCell: ({ strongestLocus2gene }) => { - if (typeof strongestLocus2gene?.score !== "number") return naLabel; - return strongestLocus2gene.score.toFixed(3); + renderCell: ({ l2Gpredictions }) => { + if (!l2Gpredictions[0]?.score) return naLabel; + return ( + + + + ); }, - exportValue: ({ strongestLocus2gene }) => strongestLocus2gene?.score, }, { id: "credibleSetSize", diff --git a/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql index 8c590f09b..6ae3e5968 100644 --- a/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql +++ b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql @@ -5,6 +5,11 @@ query GWASCredibleSetsQuery($variantId: String!) { alternateAllele credibleSets(studyTypes: [gwas], page: { size: 2000, index: 0 }) { studyLocusId + pValueMantissa + pValueExponent + beta + finemappingMethod + confidence variant { id chromosome @@ -20,9 +25,6 @@ query GWASCredibleSetsQuery($variantId: String!) { id } } - pValueMantissa - pValueExponent - beta locus { variant { id @@ -30,8 +32,7 @@ query GWASCredibleSetsQuery($variantId: String!) { r2Overall posteriorProbability } - finemappingMethod - strongestLocus2gene { + l2Gpredictions(size: 1) { target { id approvedSymbol @@ -40,4 +41,4 @@ query GWASCredibleSetsQuery($variantId: String!) { } } } -} \ No newline at end of file +} diff --git a/packages/sections/src/variant/QTLCredibleSets/Body.tsx b/packages/sections/src/variant/QTLCredibleSets/Body.tsx index bb9bdab39..f1d36c99a 100644 --- a/packages/sections/src/variant/QTLCredibleSets/Body.tsx +++ b/packages/sections/src/variant/QTLCredibleSets/Body.tsx @@ -1,11 +1,20 @@ import { useQuery } from "@apollo/client"; -import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable } from "ui"; +import { + Link, + SectionItem, + ScientificNotation, + DisplayVariantId, + OtTable, + Tooltip, + ClinvarStars, +} from "ui"; import { Box, Chip } from "@mui/material"; -import { naLabel } from "../../constants"; +import { clinvarStarMap, naLabel } from "../../constants"; import { definition } from "."; import Description from "./Description"; import QTL_CREDIBLE_SETS_QUERY from "./QTLCredibleSetsQuery.gql"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; +import { ReactNode } from "react"; type getColumnsType = { id: string; @@ -22,11 +31,11 @@ function getColumns({ }: getColumnsType) { return [ { - id: "view", - label: "Details", - renderCell: ({ studyLocusId }) => view, - filterValue: false, - exportValue: false, + id: "studyLocusId", + label: "More details", + renderCell: ({ studyLocusId }) => ( + {studyLocusId} + ), }, { id: "leadVariant", @@ -89,14 +98,14 @@ function getColumns({ }, }, { - id: "study.biosample.biosampleId", + id: "study", label: "Affected tissue/cell", renderCell: ({ study }) => { const biosampleId = study?.biosample?.biosampleId; if (!biosampleId) return naLabel; return ( - {biosampleId} + {study?.biosample?.biosampleName} ); }, @@ -104,7 +113,7 @@ function getColumns({ { id: "study.condition", label: "Condition", - renderCell: () => Not in API, + renderCell: ({ study }) => study?.condition || naLabel, }, { id: "pValue", @@ -133,6 +142,7 @@ function getColumns({ label: "Beta", filterValue: false, tooltip: "Beta with respect to the ALT allele", + sortable: true, renderCell: ({ beta }) => { if (typeof beta !== "number") return naLabel; return beta.toPrecision(3); @@ -160,6 +170,20 @@ function getColumns({ renderCell: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3) ?? naLabel, exportValue: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3), }, + { + id: "confidence", + label: "Confidence", + sortable: true, + renderCell: ({ confidence }) => { + if (!confidence) return naLabel; + return ( + + + + ); + }, + filterValue: ({ confidence }) => clinvarStarMap[confidence], + }, { id: "finemappingMethod", label: "Finemapping method", @@ -181,7 +205,7 @@ type BodyProps = { entity: string; }; -function Body({ id, entity }: BodyProps) { +function Body({ id, entity }: BodyProps): ReactNode { const variables = { variantId: id, }; diff --git a/packages/sections/src/variant/QTLCredibleSets/Description.tsx b/packages/sections/src/variant/QTLCredibleSets/Description.tsx index 79a642951..6fc754ac4 100644 --- a/packages/sections/src/variant/QTLCredibleSets/Description.tsx +++ b/packages/sections/src/variant/QTLCredibleSets/Description.tsx @@ -1,3 +1,4 @@ +import { ReactElement } from "react"; import { Link, DisplayVariantId } from "ui"; type DescriptionProps = { @@ -6,7 +7,11 @@ type DescriptionProps = { alternateAllele: string; }; -function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { +function Description({ + variantId, + referenceAllele, + alternateAllele, +}: DescriptionProps): ReactElement { return ( <> molQTL 99% credible sets containing{" "} @@ -17,12 +22,9 @@ function Description({ variantId, referenceAllele, alternateAllele }: Descriptio alternateAllele={alternateAllele} /> - . Source{" "} - - eQTL Catalog - + . Source Open Targets ); } -export default Description; \ No newline at end of file +export default Description; diff --git a/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql index 20d1276b3..f21c2d27e 100644 --- a/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql +++ b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql @@ -3,11 +3,14 @@ query QTLCredibleSetsQuery($variantId: String!) { id referenceAllele alternateAllele - credibleSets( - studyTypes: [sqtl, pqtl, eqtl, tuqtl], - page: { size: 2000, index: 0 } - ) { + credibleSets(studyTypes: [sqtl, pqtl, eqtl, tuqtl], page: { size: 2000, index: 0 }) { studyLocusId + pValueMantissa + pValueExponent + beta + finemappingMethod + confidence + variant { id chromosome @@ -18,24 +21,22 @@ query QTLCredibleSetsQuery($variantId: String!) { study { studyId studyType + condition target { id approvedSymbol } biosample { biosampleId - } + biosampleName + } } - pValueMantissa - pValueExponent - beta locus { variant { id } posteriorProbability } - finemappingMethod } } -} \ No newline at end of file +} diff --git a/packages/sections/src/variant/VariantEffectPredictor/Body.tsx b/packages/sections/src/variant/VariantEffectPredictor/Body.tsx index 4beb7e4d2..d4d686d0d 100644 --- a/packages/sections/src/variant/VariantEffectPredictor/Body.tsx +++ b/packages/sections/src/variant/VariantEffectPredictor/Body.tsx @@ -1,5 +1,5 @@ import { useQuery } from "@apollo/client"; -import { Box } from "@mui/material"; +import { Box, Chip } from "@mui/material"; import { Link, SectionItem, Tooltip, OtTable } from "ui"; import { Fragment } from "react"; import { definition } from "../VariantEffectPredictor"; @@ -12,32 +12,67 @@ function formatVariantConsequenceLabel(label) { return label.replace(/_/g, " "); } +function isNumber(value: any): boolean { + return typeof value === "number" && isFinite(value); +} + const columns = [ { id: "target.approvedSymbol", label: "Gene", - comparator: (a, b) => a.transcriptIndex - b.transcriptIndex, - renderCell: ({ target, transcriptId }) => { + sortable: true, + renderCell: ({ target, transcriptId, uniprotAccessions }) => { if (!target) return naLabel; let displayElement = {target.approvedSymbol}; + let tooltipContent = <>; if (transcriptId) { - displayElement = ( - - Ensembl canonical transcript:{" "} - - {transcriptId} + tooltipContent = ( + + Ensembl canonical transcript: +
+ + {transcriptId} + +
+ ); + } + if (uniprotAccessions?.length) { + tooltipContent = ( + <> + {tooltipContent} + Protein: +
+ {uniprotAccessions.map((id, i, arr) => ( + + + {id} - - } - showHelpIcon - > - {displayElement} -
+ {i < arr.length - 1 && ", "} + + ))} + + ); + } + displayElement = ( + + {displayElement} + + ); + + if (target?.biotype === "protein_coding") { + displayElement = ( + <> + {displayElement}{" "} + {" "} + ); } return displayElement; @@ -46,17 +81,46 @@ const columns = [ { id: "variantConsequences.label", label: "Predicted consequence", - renderCell: ({ variantConsequences }) => - variantConsequences.length - ? variantConsequences.map(({ id, label }, i, arr) => ( - - - {formatVariantConsequenceLabel(label)} - - {i < arr.length - 1 && ", "} - - )) - : naLabel, + renderCell: ({ variantConsequences, aminoAcidChange, codons, uniprotAccessions }) => { + if (!variantConsequences?.length) return naLabel; + let displayElement = variantConsequences.map(({ id, label }, i, arr) => ( + + + {formatVariantConsequenceLabel(label)} + + {i < arr.length - 1 && ", "} + + )); + if (aminoAcidChange) + displayElement = ( + + {displayElement} {" "} + + + ); + if (codons) { + const tooltipContent = ( + <> + Trancript consequence: +
+ {codons} +
+ + ); + + displayElement = ( + + {displayElement} + + ); + } + return displayElement; + }, exportValue: ({ variantConsequences }) => { return variantConsequences .map(({ label }) => { @@ -70,39 +134,23 @@ const columns = [ label: "Impact", renderCell: ({ impact }) => impact?.toLowerCase?.() ?? naLabel, }, - { - id: "aminoAcidChange", - label: "Amino acid change", - renderCell: ({ aminoAcidChange }) => aminoAcidChange ?? naLabel, - }, - { - id: "codons", - label: "Coding change", - renderCell: ({ codons }) => codons ?? naLabel, - }, { id: "distanceFromFootprint", label: "Distance from footprint", + numeric: true, + sortable: true, + renderCell: ({ distanceFromFootprint }) => + isNumber(distanceFromFootprint) + ? parseInt(distanceFromFootprint, 10).toLocaleString() + : naLabel, }, { id: "distanceFromTss", label: "Distance from start site", - }, - { - id: "uniprotAccession", - label: "Uniprot accession", - renderCell: ({ uniprotAccessions }) => - uniprotAccessions?.length - ? uniprotAccessions.map((id, i, arr) => ( - - - {id} - - {i < arr.length - 1 && ", "} - - )) - : naLabel, - exportValue: ({ uniprotAccessions }) => (uniprotAccessions ?? []).join(", "), + numeric: true, + sortable: true, + renderCell: ({ distanceFromTss }) => + isNumber(distanceFromTss) ? parseInt(distanceFromTss, 10).toLocaleString() : naLabel, }, ]; @@ -133,14 +181,15 @@ export function Body({ id, entity }: BodyProps) { /> )} renderBody={() => { + const sortedRows = [...request.data?.variant.transcriptConsequences]; + sortedRows.sort((a, b) => a.transcriptIndex - b.transcriptIndex); return ( ); diff --git a/packages/sections/src/variant/VariantEffectPredictor/Description.tsx b/packages/sections/src/variant/VariantEffectPredictor/Description.tsx index e5d3c19b1..bc1f99b9d 100644 --- a/packages/sections/src/variant/VariantEffectPredictor/Description.tsx +++ b/packages/sections/src/variant/VariantEffectPredictor/Description.tsx @@ -9,7 +9,7 @@ type DescriptionProps = { function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { return ( <> - Variant consequence prediction for{" "} + Variant consequence prediction for transcripts in the genemonic region of{" "} . {" "}Source:{" "} - VEP + Ensembl VEP ); diff --git a/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorQuery.gql b/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorQuery.gql index 2c2548254..9cb784c88 100644 --- a/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorQuery.gql +++ b/packages/sections/src/variant/VariantEffectPredictor/VariantEffectPredictorQuery.gql @@ -1,5 +1,5 @@ query VariantEffectPredictorQuery($variantId: String!) { - variant(variantId: $variantId){ + variant(variantId: $variantId) { id transcriptConsequences { variantConsequences { @@ -14,6 +14,7 @@ query VariantEffectPredictorQuery($variantId: String!) { target { id approvedSymbol + biotype } impact consequenceScore @@ -26,4 +27,4 @@ query VariantEffectPredictorQuery($variantId: String!) { referenceAllele alternateAllele } -} \ No newline at end of file +} diff --git a/packages/sections/src/variant/VariantEffectPredictor/index.ts b/packages/sections/src/variant/VariantEffectPredictor/index.ts index ac4c2a089..3f34eebbc 100644 --- a/packages/sections/src/variant/VariantEffectPredictor/index.ts +++ b/packages/sections/src/variant/VariantEffectPredictor/index.ts @@ -1,7 +1,7 @@ const id = "variant_effect_predictor"; export const definition = { id, - name: "Variant Effect Predictor (VEP)", - shortName: "VE", + name: "Transcript consequences", + shortName: "TC", hasData: data => data?.transcriptConsequences?.length > 0, }; diff --git a/packages/ui/src/components/Chip.tsx b/packages/ui/src/components/Chip.tsx index 29dc9e535..10a629e41 100644 --- a/packages/ui/src/components/Chip.tsx +++ b/packages/ui/src/components/Chip.tsx @@ -1,6 +1,7 @@ import classNames from "classnames"; import { makeStyles } from "@mui/styles"; import { Chip as MUIChip } from "@mui/material"; +import { ReactElement } from "react"; const useStyles = makeStyles({ chip: { @@ -12,10 +13,10 @@ const useStyles = makeStyles({ }); type ChipProps = { - className: string; - disabled: boolean; - label: string; - title: string; + className?: string; + disabled?: boolean; + label: ReactElement; + title?: string; }; export default function Chip({ className, label, title, disabled }: ChipProps) { diff --git a/packages/ui/src/components/Link.tsx b/packages/ui/src/components/Link.tsx index 59d3f2662..415235e0d 100644 --- a/packages/ui/src/components/Link.tsx +++ b/packages/ui/src/components/Link.tsx @@ -43,9 +43,9 @@ type LinkProptypes = { className?: string; to: string; onClick?: () => void | null; - external: boolean; + external?: boolean; newTab?: boolean; - footer: boolean; + footer?: boolean; tooltip?: unknown; children: ReactNode; ariaLabel?: string; diff --git a/packages/ui/src/components/OtScoreLinearBar.tsx b/packages/ui/src/components/OtScoreLinearBar.tsx new file mode 100644 index 000000000..f9078c48e --- /dev/null +++ b/packages/ui/src/components/OtScoreLinearBar.tsx @@ -0,0 +1,16 @@ +import LinearProgress, { linearProgressClasses } from "@mui/material/LinearProgress"; +import { styled } from "@mui/material"; + +const OtScoreLinearBar = styled(LinearProgress)(({ theme }) => ({ + height: 8, + borderRadius: 5, + maxWidth: 70, + [`&.${linearProgressClasses.colorPrimary}`]: { + backgroundColor: theme.palette.grey[200], + }, + [`& .${linearProgressClasses.bar}`]: { + borderRadius: 5, + backgroundColor: theme.palette.primary.main, + }, +})); +export default OtScoreLinearBar; diff --git a/packages/ui/src/components/Tooltip.jsx b/packages/ui/src/components/Tooltip.jsx index e5200b300..1db390e98 100644 --- a/packages/ui/src/components/Tooltip.jsx +++ b/packages/ui/src/components/Tooltip.jsx @@ -2,7 +2,14 @@ import { makeStyles } from "@mui/styles"; import { Tooltip as MUITooltip } from "@mui/material"; import { merge } from "lodash"; -function Tooltip({ style, children, title, showHelpIcon = false, placement = "top", ...props }) { +function Tooltip({ + style = "", + children, + title, + showHelpIcon = false, + placement = "top", + ...props +}) { const classes = makeStyles(theme => merge(style, { tooltip: { diff --git a/packages/ui/src/index.tsx b/packages/ui/src/index.tsx index c56cf6cfc..310d83585 100644 --- a/packages/ui/src/index.tsx +++ b/packages/ui/src/index.tsx @@ -37,6 +37,7 @@ export { default as Legend } from "./components/Legend"; export { default as ApiPlaygroundDrawer } from "./components/ApiPlaygroundDrawer"; export { default as OtTable } from "./components/OtTable/OtTable"; export { default as OtPopper } from "./components/OtPopper"; +export { default as OtScoreLinearBar } from "./components/OtScoreLinearBar"; export { default as EmptyPage } from "./pages/EmptyPage"; export { default as NotFoundPage } from "./pages/NotFoundPage"; From deb0ee5af4eeadf737f0e30284570e6dea414feb Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Fri, 8 Nov 2024 17:13:10 +0000 Subject: [PATCH 018/120] [Platform]: pharmgkb section fix (#517) --- packages/sections/src/variant/Pharmacogenomics/Body.tsx | 9 +++++---- 1 file changed, 5 insertions(+), 4 deletions(-) diff --git a/packages/sections/src/variant/Pharmacogenomics/Body.tsx b/packages/sections/src/variant/Pharmacogenomics/Body.tsx index 3b24b7d2d..e85b623f4 100644 --- a/packages/sections/src/variant/Pharmacogenomics/Body.tsx +++ b/packages/sections/src/variant/Pharmacogenomics/Body.tsx @@ -86,7 +86,7 @@ function Body({ id, entity }: BodyProps) { renderCell: ({ genotypeId }) => genotypeId || naLabel, }, { - id: "drug", + id: "drugs", label: "Drug(s)", renderCell: ({ drugs }) => { const drugsInfo = drugs.filter(d => d.drugId || d.drugFromSource); @@ -109,7 +109,7 @@ function Body({ id, entity }: BodyProps) { drugs.map(d => `${d.drugFromSource ?? ""} ${d.drugId ?? ""}`).join(" "), }, { - id: "drugResponse", + id: "genotypeAnnotationText", label: "Drug response phenotype", renderCell: ({ phenotypeText = naLabel, phenotypeFromSourceId, genotypeAnnotationText }) => { let phenotypeTextElement = <>phenotypeText; @@ -128,7 +128,7 @@ function Body({ id, entity }: BodyProps) { filterValue: ({ phenotypeText }) => phenotypeText, }, { - id: "drugResponseCategory", + id: "pgxCategory", label: "Drug response category", renderCell: ({ pgxCategory }) => pgxCategory || naLabel, filterValue: ({ pgxCategory }) => pgxCategory, @@ -182,6 +182,7 @@ function Body({ id, entity }: BodyProps) { }, { id: "literature", + label: "Literature", renderCell: ({ literature }) => { const literatureList = literature?.reduce((acc, id) => { @@ -222,7 +223,7 @@ function Body({ id, entity }: BodyProps) { dataDownloader sortBy="evidenceLevel" columns={columns} - rows={request.data?.pharmacogenomics} + rows={request.data?.variant.pharmacogenomics} query={PHARMACOGENOMICS_QUERY.loc.source.body} variables={variables} loading={request.loading} From 7c1de02590952c1c7ae69296df94aea421d38dc2 Mon Sep 17 00:00:00 2001 From: raskolnikov-rodion <22417165+raskolnikov-rodion@users.noreply.github.com> Date: Sun, 10 Nov 2024 12:26:43 +0000 Subject: [PATCH 019/120] [Package]: migrate ProfileChipList to TypeScript (#503) --- packages/ui/src/components/Chip.tsx | 2 +- packages/ui/src/components/LongList.tsx | 12 ++++----- ...rofileChipList.jsx => ProfileChipList.tsx} | 26 ++++++++++++++----- 3 files changed, 26 insertions(+), 14 deletions(-) rename packages/ui/src/components/ProfileHeader/{ProfileChipList.jsx => ProfileChipList.tsx} (67%) diff --git a/packages/ui/src/components/Chip.tsx b/packages/ui/src/components/Chip.tsx index 10a629e41..98fc0a3f0 100644 --- a/packages/ui/src/components/Chip.tsx +++ b/packages/ui/src/components/Chip.tsx @@ -19,7 +19,7 @@ type ChipProps = { title?: string; }; -export default function Chip({ className, label, title, disabled }: ChipProps) { +export default function Chip({ className, label, title, disabled }: ChipProps): ReactElement { const classes = useStyles(); return ( ({ +const useStyles = makeStyles((theme: Theme) => ({ showMore: { whiteSpace: "nowrap", }, @@ -13,12 +13,12 @@ const useStyles = makeStyles(theme => ({ })); type LongListProps = { - terms: string[]; - render: () => JSX.Element; maxTerms?: number; + render: (item?: any, index?: number) => ReactNode; + terms: any[]; }; -function LongList({ terms, render, maxTerms = 10 }: LongListProps) { +function LongList({ terms, render, maxTerms = 10 }: LongListProps): ReactNode { const [showMore, setShowMore] = useState(false); const classes = useStyles(); diff --git a/packages/ui/src/components/ProfileHeader/ProfileChipList.jsx b/packages/ui/src/components/ProfileHeader/ProfileChipList.tsx similarity index 67% rename from packages/ui/src/components/ProfileHeader/ProfileChipList.jsx rename to packages/ui/src/components/ProfileHeader/ProfileChipList.tsx index ef47f8c04..0f14423ed 100644 --- a/packages/ui/src/components/ProfileHeader/ProfileChipList.jsx +++ b/packages/ui/src/components/ProfileHeader/ProfileChipList.tsx @@ -1,11 +1,12 @@ -import { Box, Skeleton, Typography, Tooltip } from "@mui/material"; +import { Box, Skeleton, Typography, Tooltip, Theme } from "@mui/material"; import { makeStyles } from "@mui/styles"; +import { ReactNode } from "react"; import _ from "lodash"; import Chip from "../Chip"; import LongList from "../LongList"; -const useContainerStyles = makeStyles(theme => ({ +const useContainerStyles = makeStyles((theme: Theme) => ({ tooltip: { backgroundColor: theme.palette.background.paper, border: `1px solid ${theme.palette.grey[300]}`, @@ -13,9 +14,21 @@ const useContainerStyles = makeStyles(theme => ({ }, })); -function ChipList({ children, title, loading = false, inline }) { +type ChipListItem = { + label: string; + tooltip: string; +}; + +type ChipListProps = { + children?: ChipListItem[] | string[]; + inline?: boolean; + loading: boolean; + title: string; +}; + +function ChipList({ children, title, loading = false, inline }: ChipListProps): ReactNode { const classes = useContainerStyles(); - if (inline && loading) return ; + if (inline && loading) return ; if (!children || children.length === 0) return null; @@ -26,12 +39,12 @@ function ChipList({ children, title, loading = false, inline }) { {inline ? ": " : ""} {loading ? ( - + ) : ( { + render={(item: ChipListItem | string) => { if (_.isString(item)) { return ; } @@ -48,7 +61,6 @@ function ChipList({ children, title, loading = false, inline }) { ); }} - size="small" /> )} From 148bb653d18eac26531270a898a885bb2be1de20 Mon Sep 17 00:00:00 2001 From: Joris Louwen <62542407+louwenjjr@users.noreply.github.com> Date: Sun, 10 Nov 2024 13:27:35 +0100 Subject: [PATCH 020/120] [Platform]: Remove buggy formatting in DepMap tooltip (#519) --- packages/sections/src/target/DepMap/DepmapPlot.jsx | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/packages/sections/src/target/DepMap/DepmapPlot.jsx b/packages/sections/src/target/DepMap/DepmapPlot.jsx index 6be4e7308..42eb1d1f8 100644 --- a/packages/sections/src/target/DepMap/DepmapPlot.jsx +++ b/packages/sections/src/target/DepMap/DepmapPlot.jsx @@ -119,7 +119,7 @@ function DepmapPlot({ data, width }) { textPadding: 10, format: { fill: false, - cellLineName: d => d + "\n\n", + cellLineName: true, diseaseFromSource: true, x: false, y: false, From aa24640503e6ebe80cacac664ae31a6161dc0fbf Mon Sep 17 00:00:00 2001 From: Carlos Cruz Date: Mon, 11 Nov 2024 13:14:38 +0000 Subject: [PATCH 021/120] [Platform]: add create GWAS credible sets to AotF and base widget (#527) --- .../static_datasets/dataSourcesAssoc.js | 11 + .../platform/src/sections/evidenceSections.js | 1 + .../src/evidence/GWASCredibleSets/Body.jsx | 276 ++++++++++++++++++ .../evidence/GWASCredibleSets/Description.jsx | 16 + .../GWASCredibleSetsSummary.gql | 10 + .../src/evidence/GWASCredibleSets/Summary.jsx | 28 ++ .../src/evidence/GWASCredibleSets/index.js | 10 + .../GWASCredibleSets/sectionQuery.gql | 52 ++++ 8 files changed, 404 insertions(+) create mode 100644 packages/sections/src/evidence/GWASCredibleSets/Body.jsx create mode 100644 packages/sections/src/evidence/GWASCredibleSets/Description.jsx create mode 100644 packages/sections/src/evidence/GWASCredibleSets/GWASCredibleSetsSummary.gql create mode 100644 packages/sections/src/evidence/GWASCredibleSets/Summary.jsx create mode 100644 packages/sections/src/evidence/GWASCredibleSets/index.js create mode 100644 packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql diff --git a/apps/platform/src/components/AssociationsToolkit/static_datasets/dataSourcesAssoc.js b/apps/platform/src/components/AssociationsToolkit/static_datasets/dataSourcesAssoc.js index f66f05c3a..eed7faea1 100644 --- a/apps/platform/src/components/AssociationsToolkit/static_datasets/dataSourcesAssoc.js +++ b/apps/platform/src/components/AssociationsToolkit/static_datasets/dataSourcesAssoc.js @@ -1,4 +1,15 @@ const dataSources = [ + { + id: "gwas_credible_sets", + sectionId: "gwasCredibleSets", + label: "GWAS credible sets", + aggregation: "Genetic association", + aggregationId: "genetic_association", + weight: 1, + isPrivate: false, + docsLink: "https://platform-docs.opentargets.org/evidence#open-targets-genetics", + required: false, + }, { id: "ot_genetics_portal", sectionId: "otGenetics", diff --git a/apps/platform/src/sections/evidenceSections.js b/apps/platform/src/sections/evidenceSections.js index 73d218154..fa7cf55f4 100644 --- a/apps/platform/src/sections/evidenceSections.js +++ b/apps/platform/src/sections/evidenceSections.js @@ -27,6 +27,7 @@ const evidenceSections = new Map([ ["ot_crispr_validation", lazy(() => import("sections/src/evidence/OTValidation/Body"))], ["uniprot_literature", lazy(() => import("sections/src/evidence/UniProtLiterature/Body"))], ["uniprot_variants", lazy(() => import("sections/src/evidence/UniProtVariants/Body"))], + ["gwas_credible_sets", lazy(() => import("sections/src/evidence/GWASCredibleSets/Body"))], ]); export default evidenceSections; diff --git a/packages/sections/src/evidence/GWASCredibleSets/Body.jsx b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx new file mode 100644 index 000000000..88ffd4062 --- /dev/null +++ b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx @@ -0,0 +1,276 @@ +import { useQuery } from "@apollo/client"; +import { Typography } from "@mui/material"; +import { + SectionItem, + Link, + PublicationsDrawer, + LabelChip, + OtTable, + ScientificNotation, + DirectionOfEffectTooltip, + DirectionOfEffectIcon, +} from "ui"; + +import { + defaultRowsPerPageOptions, + naLabel, + sectionsBaseSizeQuery, + studySourceMap, + variantConsequenceSource, +} from "../../constants"; +import { definition } from "."; +import Description from "./Description"; +import { dataTypesMap } from "../../dataTypes"; +import OPEN_TARGETS_GENETICS_QUERY from "./sectionQuery.gql"; +import { otgStudyUrl, otgVariantUrl } from "../../utils/urls"; +import { identifiersOrgLink, sentenceCase } from "../../utils/global"; + +function getColumns(label) { + return [ + { + id: "disease", + label: "Disease/phenotype", + renderCell: ({ disease }) => {disease.name}, + filterValue: ({ disease }) => disease.name, + }, + { + id: "diseaseFromSource", + label: "Reported disease/phenotype", + renderCell: ({ diseaseFromSource, studyId }) => { + const parsedDiseaseFromSource = diseaseFromSource.replace(/['"]+/g, ""); + return ( + + {diseaseFromSource ? parsedDiseaseFromSource : studyId} + + ); + }, + }, + { + id: "literature", + label: "Publication", + renderCell: ({ literature, publicationYear, publicationFirstAuthor }) => { + if (!literature) return naLabel; + return ( + + ); + }, + filterValue: ({ literature, publicationYear, publicationFirstAuthor }) => + `${literature} ${publicationYear} ${publicationFirstAuthor}`, + }, + { + id: "studySource", + label: "Study source", + renderCell: ({ projectId }) => { + if (!projectId) return naLabel; + if (Object.keys(studySourceMap).indexOf(projectId) < 0) return naLabel; + return studySourceMap[projectId]; + }, + filterValue: ({ projectId }) => { + if (!projectId) return naLabel; + if (Object.keys(studySourceMap).indexOf(projectId) < 0) return naLabel; + return studySourceMap[projectId]; + }, + }, + { + id: "variantId", + label: "Variant ID (RSID)", + renderCell: ({ variantId, variantRsId }) => ( + <> + {variantId ? ( + + {variantId} + + ) : ( + naLabel + )} + {variantRsId ? ( + + {" "} + ( + + {variantRsId} + + ) + + ) : null} + + ), + filterValue: ({ variantId, variantRsId }) => `${variantId} ${variantRsId}`, + }, + { + id: "variantConsequence", + label: "Variant Consequence", + renderCell: ({ + variantFunctionalConsequence, + variantFunctionalConsequenceFromQtlId, + variantId, + }) => { + const pvparams = variantId?.split("_") || []; + return ( +
+ {variantFunctionalConsequence && ( + + )} + {variantFunctionalConsequenceFromQtlId && ( + + )} + {(variantFunctionalConsequence.id === "SO:0001583" || + variantFunctionalConsequence.id === "SO:0001587") && ( + + )} +
+ ); + }, + }, + { + id: "directionOfVariantEffect", + label: ( + + ), + renderCell: ({ variantEffect, directionOnTrait }) => { + return ( + + ); + }, + + // TODO: find a way to access getTooltipText function from DirectionOfEffectIcon.tsx + filterValue: ({ variantEffect, directionOnTrait }) => {}, + }, + { + id: "pValueMantissa", + label: ( + <> + Association p-value + + ), + numeric: true, + sortable: true, + renderCell: ({ pValueMantissa, pValueExponent }) => ( + + ), + comparator: (a, b) => + a.pValueMantissa * 10 ** a.pValueExponent - b.pValueMantissa * 10 ** b.pValueExponent, + }, + { + id: "studySampleSize", + label: "Sample size", + numeric: true, + sortable: true, + renderCell: ({ studySampleSize }) => + studySampleSize ? parseInt(studySampleSize, 10).toLocaleString() : naLabel, + }, + { + id: "oddsRatio", + label: "Odds Ratio (CI 95%)", + numeric: true, + renderCell: ({ + oddsRatio, + oddsRatioConfidenceIntervalLower, + oddsRatioConfidenceIntervalUpper, + }) => { + const ci = + oddsRatioConfidenceIntervalLower && oddsRatioConfidenceIntervalUpper + ? `(${parseFloat(oddsRatioConfidenceIntervalLower.toFixed(3))}, ${parseFloat( + oddsRatioConfidenceIntervalUpper.toFixed(3) + )})` + : ""; + return oddsRatio ? `${parseFloat(oddsRatio.toFixed(3))} ${ci}` : naLabel; + }, + }, + { + id: "betaConfidenceInterval", + label: "Beta (CI 95%)", + numeric: true, + renderCell: ({ beta, betaConfidenceIntervalLower, betaConfidenceIntervalUpper }) => { + const ci = + betaConfidenceIntervalLower && betaConfidenceIntervalUpper + ? `(${parseFloat(betaConfidenceIntervalLower.toFixed(3))}, ${parseFloat( + betaConfidenceIntervalUpper.toFixed(3) + )})` + : ""; + return beta ? `${parseFloat(beta.toFixed(3))} ${ci}` : naLabel; + }, + }, + { + id: "resourceScore", + label: "L2G score", + tooltip: ( + <> + Causal inference score - see{" "} + + our documentation + {" "} + for more information. + + ), + numeric: true, + sortable: true, + renderCell: ({ resourceScore }) => parseFloat(resourceScore?.toFixed(5)), + }, + ]; +} + +function Body({ id, label, entity }) { + const { ensgId, efoId } = id; + const variables = { ensemblId: ensgId, efoId, size: sectionsBaseSizeQuery }; + + const columns = getColumns(label); + + const request = useQuery(OPEN_TARGETS_GENETICS_QUERY, { + variables, + }); + + return ( + } + renderBody={() => ( + + )} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/evidence/GWASCredibleSets/Description.jsx b/packages/sections/src/evidence/GWASCredibleSets/Description.jsx new file mode 100644 index 000000000..a6da91b9a --- /dev/null +++ b/packages/sections/src/evidence/GWASCredibleSets/Description.jsx @@ -0,0 +1,16 @@ +import { Link } from "ui"; +import config from "../../config"; + +function Description({ symbol, name }) { + return ( + <> + Genome-wide associated loci prioritisating {symbol} as likely causal gene for{" "} + {name}. Source:{" "} + + Open Targets Genetics + + + ); +} + +export default Description; diff --git a/packages/sections/src/evidence/GWASCredibleSets/GWASCredibleSetsSummary.gql b/packages/sections/src/evidence/GWASCredibleSets/GWASCredibleSetsSummary.gql new file mode 100644 index 000000000..5d7944501 --- /dev/null +++ b/packages/sections/src/evidence/GWASCredibleSets/GWASCredibleSetsSummary.gql @@ -0,0 +1,10 @@ +fragment GWASCredibleSetsSummaryFragment on Disease { + openTargetsGenetics: evidences( + ensemblIds: [$ensgId] + enableIndirect: true + datasourceIds: ["gwas_credible_sets"] + size: 0 + ) { + count + } +} diff --git a/packages/sections/src/evidence/GWASCredibleSets/Summary.jsx b/packages/sections/src/evidence/GWASCredibleSets/Summary.jsx new file mode 100644 index 000000000..30c269c2b --- /dev/null +++ b/packages/sections/src/evidence/GWASCredibleSets/Summary.jsx @@ -0,0 +1,28 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import { dataTypesMap } from "../../dataTypes"; +import GWAS_CREDIBLE_SETS_SUMMARY_FRAGMENT from "./GWASCredibleSetsSummary.gql"; + +function Summary() { + const request = usePlatformApi(GWAS_CREDIBLE_SETS_SUMMARY_FRAGMENT); + + return ( + + `${data.openTargetsGenetics.count} entr${ + data.openTargetsGenetics.count === 1 ? "y" : "ies" + }` + } + subText={dataTypesMap.genetic_association} + /> + ); +} + +Summary.fragments = { + OpenTargetsGeneticsSummaryFragment: GWAS_CREDIBLE_SETS_SUMMARY_FRAGMENT, +}; + +export default Summary; diff --git a/packages/sections/src/evidence/GWASCredibleSets/index.js b/packages/sections/src/evidence/GWASCredibleSets/index.js new file mode 100644 index 000000000..8f1e296f9 --- /dev/null +++ b/packages/sections/src/evidence/GWASCredibleSets/index.js @@ -0,0 +1,10 @@ +import { isPrivateEvidenceSection } from "../../utils/partnerPreviewUtils"; + +const id = "gwas_credible_sets"; +export const definition = { + id, + name: "GWAS credible sets", + shortName: "GC", + hasData: data => data.openTargetsGenetics.count > 0, + isPrivate: isPrivateEvidenceSection(id), +}; diff --git a/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql b/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql new file mode 100644 index 000000000..d6f82d928 --- /dev/null +++ b/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql @@ -0,0 +1,52 @@ +query OpenTargetsGeneticsQuery($ensemblId: String!, $efoId: String!, $size: Int!) { + target(ensemblId: $ensemblId) { + approvedSymbol + } + disease(efoId: $efoId) { + id + name + openTargetsGenetics: evidences( + ensemblIds: [$ensemblId] + enableIndirect: true + datasourceIds: ["ot_genetics_portal"] + size: $size + ) { + count + rows { + id + disease { + id + name + } + variantEffect + directionOnTrait + diseaseFromSource + studyId + studySampleSize + variantId + variantRsId + literature + publicationYear + publicationFirstAuthor + pValueExponent + pValueMantissa + oddsRatio + oddsRatioConfidenceIntervalLower + oddsRatioConfidenceIntervalUpper + beta + betaConfidenceIntervalLower + betaConfidenceIntervalUpper + variantFunctionalConsequence { + id + label + } + variantFunctionalConsequenceFromQtlId { + id + label + } + resourceScore + projectId + } + } + } +} From 052a169abdf63d2d6c295b9a869dab1115221def Mon Sep 17 00:00:00 2001 From: Carlos Cruz Date: Mon, 11 Nov 2024 19:18:42 +0000 Subject: [PATCH 022/120] [Platform]: fix: travis deploy (#528) --- .travis.yml | 5 +++++ 1 file changed, 5 insertions(+) diff --git a/.travis.yml b/.travis.yml index 323de9cea..931a526ca 100644 --- a/.travis.yml +++ b/.travis.yml @@ -23,6 +23,11 @@ after_success: - cd .. - mv bundle-genetics.tgz ../../bundle-genetics.tgz - cd ../.. +before_deploy: + - yes | gem update --system --force + - gem install bundler + - gem install uri + - gem install logger deploy: provider: releases api_key: $GITHUB_TOKEN From db27a28002f75b68bd8c3606f6d9d9ee4a959f92 Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Tue, 12 Nov 2024 11:50:35 +0000 Subject: [PATCH 023/120] [Platform]: new Genetics evidence widget (#529) --- .../src/pages/EvidencePage/Profile.jsx | 6 + .../src/evidence/GWASCredibleSets/Body.jsx | 237 ++++++------------ .../GWASCredibleSets/sectionQuery.gql | 52 ++-- 3 files changed, 102 insertions(+), 193 deletions(-) diff --git a/apps/platform/src/pages/EvidencePage/Profile.jsx b/apps/platform/src/pages/EvidencePage/Profile.jsx index e9d24ce66..4e816085f 100644 --- a/apps/platform/src/pages/EvidencePage/Profile.jsx +++ b/apps/platform/src/pages/EvidencePage/Profile.jsx @@ -35,6 +35,7 @@ import SlapEnrichSummary from "sections/src/evidence/SlapEnrich/Summary"; import SysBioSummary from "sections/src/evidence/SysBio/Summary"; import UniProtLiteratureSummary from "sections/src/evidence/UniProtLiterature/Summary"; import UniProtVariantsSummary from "sections/src/evidence/UniProtVariants/Summary"; +import GWASCredibleSetsSummary from "sections/src/evidence/GWASCredibleSets/Summary"; import ProfileHeader from "./ProfileHeader"; @@ -57,6 +58,7 @@ const OrphanetSection = lazy(() => import("sections/src/evidence/Orphanet/Body") const OTCRISPRSection = lazy(() => import("sections/src/evidence/OTCRISPR/Body")); const OTEncoreSection = lazy(() => import("sections/src/evidence/OTEncore/Body")); const OTGeneticsSection = lazy(() => import("sections/src/evidence/OTGenetics/Body")); +const GWASCredibleSetsSection = lazy(() => import("sections/src/evidence/GWASCredibleSets/Body")); const OTValidationSection = lazy(() => import("sections/src/evidence/OTValidation/Body")); const ProgenySection = lazy(() => import("sections/src/evidence/Progeny/Body")); const ReactomeSection = lazy(() => import("sections/src/evidence/Reactome/Body")); @@ -143,6 +145,7 @@ function Profile({ ensgId, efoId, symbol, name }) { + @@ -174,6 +177,9 @@ function Profile({ ensgId, efoId, symbol, name }) { + }> + + }> diff --git a/packages/sections/src/evidence/GWASCredibleSets/Body.jsx b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx index 88ffd4062..05183f1f7 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/Body.jsx +++ b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx @@ -1,31 +1,21 @@ import { useQuery } from "@apollo/client"; -import { Typography } from "@mui/material"; +import { Tooltip } from "@mui/material"; import { SectionItem, Link, PublicationsDrawer, - LabelChip, OtTable, ScientificNotation, - DirectionOfEffectTooltip, - DirectionOfEffectIcon, + ClinvarStars, } from "ui"; -import { - defaultRowsPerPageOptions, - naLabel, - sectionsBaseSizeQuery, - studySourceMap, - variantConsequenceSource, -} from "../../constants"; +import { naLabel, sectionsBaseSizeQuery, clinvarStarMap } from "../../constants"; import { definition } from "."; import Description from "./Description"; import { dataTypesMap } from "../../dataTypes"; -import OPEN_TARGETS_GENETICS_QUERY from "./sectionQuery.gql"; -import { otgStudyUrl, otgVariantUrl } from "../../utils/urls"; -import { identifiersOrgLink, sentenceCase } from "../../utils/global"; +import GWAS_CREDIBLE_SETS_QUERY from "./sectionQuery.gql"; -function getColumns(label) { +function getColumns() { return [ { id: "disease", @@ -34,28 +24,41 @@ function getColumns(label) { filterValue: ({ disease }) => disease.name, }, { - id: "diseaseFromSource", - label: "Reported disease/phenotype", - renderCell: ({ diseaseFromSource, studyId }) => { - const parsedDiseaseFromSource = diseaseFromSource.replace(/['"]+/g, ""); + id: "credibleSet", + label: "Credible Set", + renderCell: ({ credibleSet }) => { + return view; + }, + }, + { + id: "trait", + label: "Trait", + renderCell: ({ credibleSet }) => credibleSet?.study.traitFromSource, + }, + { + id: "study", + label: "Study", + renderCell: ({ credibleSet }) => { return ( - - {diseaseFromSource ? parsedDiseaseFromSource : studyId} - + {credibleSet?.study.studyId} ); }, }, { - id: "literature", + id: "projectId", + label: "Project", + renderCell: ({ credibleSet }) => credibleSet?.study.projectId, + }, + { + id: "publication", label: "Publication", - renderCell: ({ literature, publicationYear, publicationFirstAuthor }) => { - if (!literature) return naLabel; + renderCell: ({ credibleSet }) => { + const { publicationFirstAuthor, publicationDate, pubmedId } = credibleSet?.study; + if (!publicationFirstAuthor) return naLabel; return ( ); }, @@ -63,103 +66,23 @@ function getColumns(label) { `${literature} ${publicationYear} ${publicationFirstAuthor}`, }, { - id: "studySource", - label: "Study source", - renderCell: ({ projectId }) => { - if (!projectId) return naLabel; - if (Object.keys(studySourceMap).indexOf(projectId) < 0) return naLabel; - return studySourceMap[projectId]; - }, - filterValue: ({ projectId }) => { - if (!projectId) return naLabel; - if (Object.keys(studySourceMap).indexOf(projectId) < 0) return naLabel; - return studySourceMap[projectId]; - }, + id: "nSamples", + label: "Sample size", + numeric: true, + sortable: true, + renderCell: ({ credibleSet }) => + credibleSet?.study.nSamples + ? parseInt(credibleSet?.study.nSamples, 10).toLocaleString() + : naLabel, }, { id: "variantId", - label: "Variant ID (RSID)", - renderCell: ({ variantId, variantRsId }) => ( - <> - {variantId ? ( - - {variantId} - - ) : ( - naLabel - )} - {variantRsId ? ( - - {" "} - ( - - {variantRsId} - - ) - - ) : null} - - ), - filterValue: ({ variantId, variantRsId }) => `${variantId} ${variantRsId}`, - }, - { - id: "variantConsequence", - label: "Variant Consequence", - renderCell: ({ - variantFunctionalConsequence, - variantFunctionalConsequenceFromQtlId, - variantId, - }) => { - const pvparams = variantId?.split("_") || []; - return ( -
- {variantFunctionalConsequence && ( - - )} - {variantFunctionalConsequenceFromQtlId && ( - - )} - {(variantFunctionalConsequence.id === "SO:0001583" || - variantFunctionalConsequence.id === "SO:0001587") && ( - - )} -
- ); - }, - }, - { - id: "directionOfVariantEffect", - label: ( - - ), - renderCell: ({ variantEffect, directionOnTrait }) => { - return ( - - ); + label: "Lead Variant", + renderCell: ({ credibleSet }) => { + const { variant } = credibleSet; + if (variant?.id) return {variant?.id}; + return naLabel; }, - - // TODO: find a way to access getTooltipText function from DirectionOfEffectIcon.tsx - filterValue: ({ variantEffect, directionOnTrait }) => {}, }, { id: "pValueMantissa", @@ -170,54 +93,42 @@ function getColumns(label) { ), numeric: true, sortable: true, - renderCell: ({ pValueMantissa, pValueExponent }) => ( - - ), + renderCell: ({ credibleSet }) => { + const { pValueMantissa, pValueExponent } = credibleSet; + return ; + }, comparator: (a, b) => a.pValueMantissa * 10 ** a.pValueExponent - b.pValueMantissa * 10 ** b.pValueExponent, }, { - id: "studySampleSize", - label: "Sample size", + id: "betaConfidenceInterval", + label: "Beta (CI 95%)", numeric: true, - sortable: true, - renderCell: ({ studySampleSize }) => - studySampleSize ? parseInt(studySampleSize, 10).toLocaleString() : naLabel, + renderCell: ({ credibleSet }) => { + return credibleSet?.beta ? `${parseFloat(credibleSet?.beta.toFixed(3))}` : naLabel; + }, }, { - id: "oddsRatio", - label: "Odds Ratio (CI 95%)", - numeric: true, - renderCell: ({ - oddsRatio, - oddsRatioConfidenceIntervalLower, - oddsRatioConfidenceIntervalUpper, - }) => { - const ci = - oddsRatioConfidenceIntervalLower && oddsRatioConfidenceIntervalUpper - ? `(${parseFloat(oddsRatioConfidenceIntervalLower.toFixed(3))}, ${parseFloat( - oddsRatioConfidenceIntervalUpper.toFixed(3) - )})` - : ""; - return oddsRatio ? `${parseFloat(oddsRatio.toFixed(3))} ${ci}` : naLabel; - }, + id: "finemappingMethod", + label: "Fine-mapping method", + renderCell: ({ credibleSet }) => credibleSet?.finemappingMethod || naLabel, }, { - id: "betaConfidenceInterval", - label: "Beta (CI 95%)", - numeric: true, - renderCell: ({ beta, betaConfidenceIntervalLower, betaConfidenceIntervalUpper }) => { - const ci = - betaConfidenceIntervalLower && betaConfidenceIntervalUpper - ? `(${parseFloat(betaConfidenceIntervalLower.toFixed(3))}, ${parseFloat( - betaConfidenceIntervalUpper.toFixed(3) - )})` - : ""; - return beta ? `${parseFloat(beta.toFixed(3))} ${ci}` : naLabel; + id: "confidence", + label: "Confidence", + sortable: true, + renderCell: ({ credibleSet }) => { + if (!credibleSet?.confidence) return naLabel; + return ( + + + + ); }, + filterValue: ({ credibleSet }) => clinvarStarMap[credibleSet?.confidence], }, { - id: "resourceScore", + id: "score", label: "L2G score", tooltip: ( <> @@ -233,7 +144,7 @@ function getColumns(label) { ), numeric: true, sortable: true, - renderCell: ({ resourceScore }) => parseFloat(resourceScore?.toFixed(5)), + renderCell: ({ score }) => parseFloat(score?.toFixed(5)), }, ]; } @@ -242,9 +153,9 @@ function Body({ id, label, entity }) { const { ensgId, efoId } = id; const variables = { ensemblId: ensgId, efoId, size: sectionsBaseSizeQuery }; - const columns = getColumns(label); + const columns = getColumns(); - const request = useQuery(OPEN_TARGETS_GENETICS_QUERY, { + const request = useQuery(GWAS_CREDIBLE_SETS_QUERY, { variables, }); @@ -263,8 +174,8 @@ function Body({ id, label, entity }) { order="desc" rows={request.data?.disease.openTargetsGenetics.rows} showGlobalFilter - sortBy="resourceScore" - query={OPEN_TARGETS_GENETICS_QUERY.loc.source.body} + sortBy="pValueMantissa" + query={GWAS_CREDIBLE_SETS_QUERY.loc.source.body} variables={variables} loading={request.loading} /> diff --git a/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql b/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql index d6f82d928..9ecf12244 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql +++ b/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql @@ -1,4 +1,4 @@ -query OpenTargetsGeneticsQuery($ensemblId: String!, $efoId: String!, $size: Int!) { +query GwasCredibleSetsQuery($ensemblId: String!, $efoId: String!, $size: Int!) { target(ensemblId: $ensemblId) { approvedSymbol } @@ -8,44 +8,36 @@ query OpenTargetsGeneticsQuery($ensemblId: String!, $efoId: String!, $size: Int! openTargetsGenetics: evidences( ensemblIds: [$ensemblId] enableIndirect: true - datasourceIds: ["ot_genetics_portal"] + datasourceIds: ["gwas_credible_sets"] size: $size ) { count rows { - id disease { id name } - variantEffect - directionOnTrait - diseaseFromSource - studyId - studySampleSize - variantId - variantRsId - literature - publicationYear - publicationFirstAuthor - pValueExponent - pValueMantissa - oddsRatio - oddsRatioConfidenceIntervalLower - oddsRatioConfidenceIntervalUpper - beta - betaConfidenceIntervalLower - betaConfidenceIntervalUpper - variantFunctionalConsequence { - id - label - } - variantFunctionalConsequenceFromQtlId { - id - label + credibleSet { + studyLocusId + study { + traitFromSource + studyId + projectId + publicationFirstAuthor + publicationDate + pubmedId + nSamples + } + variant { + id + } + pValueMantissa + pValueExponent + beta + finemappingMethod + confidence } - resourceScore - projectId + score } } } From 1cddcb84ad9ca2f158ec45671c6246ea6f70d77e Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Wed, 13 Nov 2024 09:53:12 +0000 Subject: [PATCH 024/120] [Platform]: fix typo in transcript consequence widget (#530) --- .../sections/src/variant/VariantEffectPredictor/Description.tsx | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/packages/sections/src/variant/VariantEffectPredictor/Description.tsx b/packages/sections/src/variant/VariantEffectPredictor/Description.tsx index bc1f99b9d..3a8017774 100644 --- a/packages/sections/src/variant/VariantEffectPredictor/Description.tsx +++ b/packages/sections/src/variant/VariantEffectPredictor/Description.tsx @@ -9,7 +9,7 @@ type DescriptionProps = { function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { return ( <> - Variant consequence prediction for transcripts in the genemonic region of{" "} + Variant consequence prediction for transcripts in the genomic region of{" "} Date: Wed, 13 Nov 2024 12:28:00 +0000 Subject: [PATCH 025/120] [Platform]: Use l2Gpredictions instead of strongestLocus2Gene in study page (#531) --- .../src/study/GWASCredibleSets/Body.tsx | 23 ++++++++++--------- .../GWASCredibleSetsQuery.gql | 4 ++-- 2 files changed, 14 insertions(+), 13 deletions(-) diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx index be2b3a593..5c00f8654 100644 --- a/packages/sections/src/study/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -74,28 +74,29 @@ const columns = [ label: "Finemapping method", }, { - id: "topL2G", + id: "TopL2G", label: "Top L2G", tooltip: "Top gene prioritised by our locus-to-gene model", - filterValue: ({ strongestLocus2gene }) => strongestLocus2gene?.target.approvedSymbol, - renderCell: ({ strongestLocus2gene }) => { - if (!strongestLocus2gene?.target) return naLabel; - const { target } = strongestLocus2gene; + filterValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.target.approvedSymbol, + renderCell: ({ l2Gpredictions }) => { + const { target } = l2Gpredictions?.[0]; + if (!target) return naLabel; return {target.approvedSymbol}; }, - exportValue: ({ strongestLocus2gene }) => strongestLocus2gene?.target.approvedSymbol, + exportValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.target.approvedSymbol, }, { id: "l2gScore", label: "L2G score", - comparator: (rowA, rowB) => rowA?.strongestLocus2gene?.score - rowB?.strongestLocus2gene?.score, + comparator: (rowA, rowB) => rowA?.l2Gpredictions?.[0]?.score - rowB?.l2Gpredictions?.[0]?.score, sortable: true, filterValue: false, - renderCell: ({ strongestLocus2gene }) => { - if (typeof strongestLocus2gene?.score !== "number") return naLabel; - return strongestLocus2gene.score.toFixed(3); + renderCell: ({ l2Gpredictions }) => { + const { score } = l2Gpredictions?.[0]; + if (typeof score !== "number") return naLabel; + return score.toFixed(3); }, - exportValue: ({ strongestLocus2gene }) => strongestLocus2gene?.score, + exportValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.score, }, { id: "credibleSetSize", diff --git a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql index 4b6e54200..4b709b7fd 100644 --- a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql +++ b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql @@ -17,8 +17,8 @@ query GWASCredibleSetsQuery($studyId: String!) { is95CredibleSet } finemappingMethod - strongestLocus2gene { - target { + l2Gpredictions(size: 1) { + target{ id approvedSymbol } From 29d57fc3148a1ca4cc79b2064a7c4d0460d34523 Mon Sep 17 00:00:00 2001 From: Graham McNeill Date: Wed, 13 Nov 2024 16:24:36 +0000 Subject: [PATCH 026/120] [Platform]: Add plot components (#522) --- apps/platform/.env | 2 +- .../src/study/GWASCredibleSets/Body.tsx | 208 ++++++++++++++- .../ui/src/components/Plot/ManhattanPlot.jsx | 247 ++++++++++++++++++ packages/ui/src/components/Plot/README.md | 243 +++++++++++++++++ packages/ui/src/components/Plot/TestPlot.jsx | 47 ++++ .../src/components/Plot/components/Frame.jsx | 19 ++ .../src/components/Plot/components/Panel.jsx | 21 ++ .../src/components/Plot/components/Plot.jsx | 68 +++++ .../src/components/Plot/components/XAxis.jsx | 28 ++ .../src/components/Plot/components/XGrid.jsx | 44 ++++ .../src/components/Plot/components/XLabel.jsx | 64 +++++ .../src/components/Plot/components/XTick.jsx | 62 +++++ .../src/components/Plot/components/XTitle.jsx | 63 +++++ .../src/components/Plot/components/YAxis.jsx | 28 ++ .../src/components/Plot/components/YGrid.jsx | 44 ++++ .../src/components/Plot/components/YLabel.jsx | 64 +++++ .../src/components/Plot/components/YTick.jsx | 63 +++++ .../Plot/components/marks/Circle.jsx | 57 ++++ .../components/Plot/components/marks/HTML.jsx | 75 ++++++ .../components/Plot/components/marks/Mark.jsx | 9 + .../Plot/components/marks/Segment.jsx | 55 ++++ .../Plot/components/marks/SelectionMark.jsx | 96 +++++++ .../Plot/components/marks/StandardMark.jsx | 101 +++++++ .../components/Plot/components/marks/Text.jsx | 73 ++++++ .../Plot/components/util/DynamicTag.jsx | 4 + .../components/Plot/contexts/FrameContext.jsx | 62 +++++ .../components/Plot/contexts/PlotContext.jsx | 71 +++++ .../components/Plot/contexts/VisContext.jsx | 40 +++ .../Plot/defaults/channelDefaults.js | 42 +++ .../components/Plot/defaults/plotDefaults.js | 38 +++ packages/ui/src/components/Plot/index.js | 21 ++ .../ui/src/components/Plot/util/addXYMaps.js | 17 ++ .../ui/src/components/Plot/util/assert.js | 16 ++ .../ui/src/components/Plot/util/constants.js | 1 + .../ui/src/components/Plot/util/finalData.js | 10 + .../components/Plot/util/fromFrameOrPlot.js | 8 + .../ui/src/components/Plot/util/helpers.js | 19 ++ .../components/Plot/util/processAccessors.js | 67 +++++ .../ui/src/components/Plot/util/rowValues.js | 36 +++ .../src/components/Plot/util/scaleChannels.js | 22 ++ .../ui/src/components/Plot/util/scaleValue.js | 23 ++ packages/ui/src/index.tsx | 1 + yarn.lock | 2 +- 43 files changed, 2268 insertions(+), 13 deletions(-) create mode 100644 packages/ui/src/components/Plot/ManhattanPlot.jsx create mode 100644 packages/ui/src/components/Plot/README.md create mode 100644 packages/ui/src/components/Plot/TestPlot.jsx create mode 100644 packages/ui/src/components/Plot/components/Frame.jsx create mode 100644 packages/ui/src/components/Plot/components/Panel.jsx create mode 100644 packages/ui/src/components/Plot/components/Plot.jsx create mode 100644 packages/ui/src/components/Plot/components/XAxis.jsx create mode 100644 packages/ui/src/components/Plot/components/XGrid.jsx create mode 100644 packages/ui/src/components/Plot/components/XLabel.jsx create mode 100644 packages/ui/src/components/Plot/components/XTick.jsx create mode 100644 packages/ui/src/components/Plot/components/XTitle.jsx create mode 100644 packages/ui/src/components/Plot/components/YAxis.jsx create mode 100644 packages/ui/src/components/Plot/components/YGrid.jsx create mode 100644 packages/ui/src/components/Plot/components/YLabel.jsx create mode 100644 packages/ui/src/components/Plot/components/YTick.jsx create mode 100644 packages/ui/src/components/Plot/components/marks/Circle.jsx create mode 100644 packages/ui/src/components/Plot/components/marks/HTML.jsx create mode 100644 packages/ui/src/components/Plot/components/marks/Mark.jsx create mode 100644 packages/ui/src/components/Plot/components/marks/Segment.jsx create mode 100644 packages/ui/src/components/Plot/components/marks/SelectionMark.jsx create mode 100644 packages/ui/src/components/Plot/components/marks/StandardMark.jsx create mode 100644 packages/ui/src/components/Plot/components/marks/Text.jsx create mode 100644 packages/ui/src/components/Plot/components/util/DynamicTag.jsx create mode 100644 packages/ui/src/components/Plot/contexts/FrameContext.jsx create mode 100644 packages/ui/src/components/Plot/contexts/PlotContext.jsx create mode 100644 packages/ui/src/components/Plot/contexts/VisContext.jsx create mode 100644 packages/ui/src/components/Plot/defaults/channelDefaults.js create mode 100644 packages/ui/src/components/Plot/defaults/plotDefaults.js create mode 100644 packages/ui/src/components/Plot/index.js create mode 100644 packages/ui/src/components/Plot/util/addXYMaps.js create mode 100644 packages/ui/src/components/Plot/util/assert.js create mode 100644 packages/ui/src/components/Plot/util/constants.js create mode 100644 packages/ui/src/components/Plot/util/finalData.js create mode 100644 packages/ui/src/components/Plot/util/fromFrameOrPlot.js create mode 100644 packages/ui/src/components/Plot/util/helpers.js create mode 100644 packages/ui/src/components/Plot/util/processAccessors.js create mode 100644 packages/ui/src/components/Plot/util/rowValues.js create mode 100644 packages/ui/src/components/Plot/util/scaleChannels.js create mode 100644 packages/ui/src/components/Plot/util/scaleValue.js diff --git a/apps/platform/.env b/apps/platform/.env index 4ceb89976..5544d9856 100644 --- a/apps/platform/.env +++ b/apps/platform/.env @@ -1,3 +1,3 @@ -VITE_API_URL=https://api.platform.dev.opentargets.xyz/api/v4/graphql +VITE_API_URL=https://api.partner-platform.dev.opentargets.xyz/api/v4/graphql VITE_AI_API_URL=https://dev-ai-api-w37vlfsidq-ew.a.run.app VITE_PROFILE=default \ No newline at end of file diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx index 5c00f8654..4038cf1ea 100644 --- a/packages/sections/src/study/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -1,10 +1,31 @@ import { useQuery } from "@apollo/client"; -import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable } from "ui"; +import { Skeleton, useTheme } from "@mui/material"; +import { + Link, + SectionItem, + ScientificNotation, + DisplayVariantId, + OtTable, + Plot, + Vis, + XAxis, + YAxis, + XTick, + YTick, + XLabel, + YLabel, + XTitle, + XGrid, + Circle, + Segment, + HTML, +} from "ui"; import { naLabel } from "../../constants"; import { definition } from "."; import Description from "./Description"; import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; +import { scaleLinear, scaleLog, min } from "d3"; const columns = [ { @@ -130,19 +151,184 @@ function Body({ id, entity }: BodyProps) { request={request} renderDescription={() => } renderBody={() => ( - + <> + + + )} /> ); } export default Body; + + +// ============================================================================= + +// ========== Manhattan plot ========== + +function pValue(row) { + return row.pValueMantissa * 10 ** row.pValueExponent; +} + +function ManhattanPlot({ loading, data }) { + + const plotHeight = 370; + const theme = useTheme(); + const background = theme.palette.background.paper; + const markColor = theme.palette.primary.main; + const fontFamily = theme.typography.fontFamily; + const circleArea = 24; + + if (loading) return ; + if (data == null) return null; + + const pValueMin = min(data, pValue); + const pValueMax = 1; + + const genomePositions = {}; + data.forEach(({ variant }) => { + genomePositions[variant.id] = cumulativePosition(variant); + }); + + return ( + + + [0, ...tickData.map(chromo => chromo.end)]} + tickLength={15} + /> + + tickData.map(chromo => chromo.midpoint)} + format={(_, i, __, tickData) => tickData[i].chromosome} + padding={5} + /> + tickData.map(chromo => chromo.end)} + stroke="#cecece" + strokeDasharray="3 4" + /> + + -log + 10 + (pValue) + + + + + -Math.log10(v)} /> + genomePositions[d.variant.id]} + xx={d => genomePositions[d.variant.id]} + y={pValue} + yy={pValueMax} + stroke={markColor} + strokeWidth={1} + strokeOpacity={0.7} + hover + /> + genomePositions[d.variant.id]} + y={pValue} + fill={background} + stroke={markColor} + strokeWidth={1.2} + area={circleArea} + hover + /> + + {/* TOOLTIP TEST */} + genomePositions[d.variant.id]} + y={pValue} + pxWidth={140} + pxHeight={50} + content={d => ( +
+ HTML tooltip +
{d.variant.id}
+
+ )} + // anchor="top-right" + dx={8} + dy = {-8} + /> +
+
+ ); +} + + +// ========== chromosome lengths ========== + +// from: https://www.ncbi.nlm.nih.gov/grc/human/data +// (first tab: "Chromosome lengths") +const chromosomeInfo = [ + { chromosome: '1', length: 248956422 }, + { chromosome: '2', length: 242193529 }, + { chromosome: '3', length: 198295559 }, + { chromosome: '4', length: 190214555 }, + { chromosome: '5', length: 181538259 }, + { chromosome: '6', length: 170805979 }, + { chromosome: '7', length: 159345973 }, + { chromosome: '8', length: 145138636 }, + { chromosome: '9', length: 138394717 }, + { chromosome: '10', length: 133797422 }, + { chromosome: '11', length: 135086622 }, + { chromosome: '12', length: 133275309 }, + { chromosome: '13', length: 114364328 }, + { chromosome: '14', length: 107043718 }, + { chromosome: '15', length: 101991189 }, + { chromosome: '16', length: 90338345 }, + { chromosome: '17', length: 83257441 }, + { chromosome: '18', length: 80373285 }, + { chromosome: '19', length: 58617616 }, + { chromosome: '20', length: 64444167 }, + { chromosome: '21', length: 46709983 }, + { chromosome: '22', length: 50818468 }, + { chromosome: 'X', length: 156040895 }, + { chromosome: 'Y', length: 57227415 }, +]; + +chromosomeInfo.forEach((chromo, i) => { + chromo.start = chromosomeInfo[i-1]?.end ?? 0; + chromo.end = chromo.start + chromo.length; + chromo.midpoint = (chromo.start + chromo.end) / 2; +}); + +const genomeLength = chromosomeInfo.at(-1).end; + +const chromosomeInfoMap = new Map( + chromosomeInfo.map(obj => [ obj.chromosome, obj ]) +); + +function cumulativePosition({ chromosome, position }) { + return chromosomeInfoMap.get(chromosome).start + position; +} + diff --git a/packages/ui/src/components/Plot/ManhattanPlot.jsx b/packages/ui/src/components/Plot/ManhattanPlot.jsx new file mode 100644 index 000000000..f230acf9c --- /dev/null +++ b/packages/ui/src/components/Plot/ManhattanPlot.jsx @@ -0,0 +1,247 @@ + +import { + Plot, + XAxis, + YAxis, + XTick, + YTick, + XLabel, + YLabel, + XTitle, + XGrid, + YGrid, + Circle, + Segment, +} from '.'; + +import * as d3 from "../../../../../node_modules/d3"; + + +// ========== chromosome lengths ========== + +// from: https://www.ncbi.nlm.nih.gov/grc/human/data +// (first tab: "Chromosome lengths") +const chromosomeInfo = [ + { chromosome: '1', length: 248956422 }, + { chromosome: '2', length: 242193529 }, + { chromosome: '3', length: 198295559 }, + { chromosome: '4', length: 190214555 }, + { chromosome: '5', length: 181538259 }, + { chromosome: '6', length: 170805979 }, + { chromosome: '7', length: 159345973 }, + { chromosome: '8', length: 145138636 }, + { chromosome: '9', length: 138394717 }, + { chromosome: '10', length: 133797422 }, + { chromosome: '11', length: 135086622 }, + { chromosome: '12', length: 133275309 }, + { chromosome: '13', length: 114364328 }, + { chromosome: '14', length: 107043718 }, + { chromosome: '15', length: 101991189 }, + { chromosome: '16', length: 90338345 }, + { chromosome: '17', length: 83257441 }, + { chromosome: '18', length: 80373285 }, + { chromosome: '19', length: 58617616 }, + { chromosome: '20', length: 64444167 }, + { chromosome: '21', length: 46709983 }, + { chromosome: '22', length: 50818468 }, + { chromosome: 'X', length: 156040895 }, + { chromosome: 'Y', length: 57227415 }, +]; + +const cumulativeLengths = [...d3.cumsum(chromosomeInfo, d => d.length)]; + +const genomeLength = cumulativeLengths.at(-1); +cumulativeLengths.forEach((c, i) => { + const start = cumulativeLengths[i - 1] ?? 0; + chromosomeInfo[i].start = start; + chromosomeInfo[i].midpoint = (start + c) / 2; +}); + + +// ========== credible set data ========== + +// downloaded data from GWAS credible set widget on study page +// - https://genetics--ot-platform.netlify.app/study/FINNGEN_R11_G6_MYONEU +// - from genetics netlify preview, 5/11/24 +// - manually changed 'x10' scientific strings to numbers with 'e' notation +const credibleSets = [ + { + "leadVariant": "2_176833368_G_C", + "pValue": 9.812999725341797e-29, + "beta": 1.78142, + "finemappingMethod": "SuSie", + "credibleSetSize": 1 + }, + { + "leadVariant": "2_182725396_C_G", + "pValue": 2.0209999084472656e-15, + "beta": 1.88092, + "finemappingMethod": "SuSie", + "credibleSetSize": 1 + }, + { + "leadVariant": "2_178527202_G_T", + "pValue": 9.468999862670898e-43, + "beta": 2.50628, + "finemappingMethod": "SuSie", + "credibleSetSize": 2 + }, + { + "leadVariant": "3_133502828_C_T", + "pValue": 3.1429998874664307e-26, + "beta": 2.39005, + "finemappingMethod": "SuSie", + "credibleSetSize": 2 + }, + { + "leadVariant": "2_69971691_C_T", + "pValue": 1.934999942779541e-11, + "beta": 2.70286, + "finemappingMethod": "SuSie", + "credibleSetSize": 3 + }, + { + "leadVariant": "3_123909270_G_T", + "pValue": 2.119999885559082e-9, + "beta": 1.42897, + "finemappingMethod": "SuSie", + "credibleSetSize": 2 + }, + { + "leadVariant": "3_129274020_G_A", + "pValue": 9.961000442504883e-39, + "beta": 1.64242, + "finemappingMethod": "SuSie", + "credibleSetSize": 7 + }, + { + "leadVariant": "3_125959818_C_G", + "pValue": 1.0149999856948853e-38, + "beta": 2.9011, + "finemappingMethod": "SuSie", + "credibleSetSize": 2 + }, + { + "leadVariant": "13_59255897_CCT_C", + "pValue": 2.700000047683716e-8, + "beta": -0.778397, + "finemappingMethod": "SuSie", + "credibleSetSize": 5 + }, + { + "leadVariant": "3_135574097_C_A", + "pValue": 7.104000091552734e-14, + "beta": 1.89334, + "finemappingMethod": "SuSie", + "credibleSetSize": 4 + }, + { + "leadVariant": "3_128084826_G_A", + "pValue": 1.277999997138977e-66, + "beta": 3.1711, + "finemappingMethod": "SuSie", + "credibleSetSize": 1 + }, + { + "leadVariant": "2_186704353_G_A", + "pValue": 8.9350004196167e-13, + "beta": 1.81246, + "finemappingMethod": "SuSie", + "credibleSetSize": 1 + }, + { + "leadVariant": "3_137766724_A_T", + "pValue": 2.318000078201294e-11, + "beta": 1.68788, + "finemappingMethod": "SuSie", + "credibleSetSize": 6 + }, + { + "leadVariant": "7_143351678_C_T", + "pValue": 1.7300000190734863e-8, + "beta": 0.420331, + "finemappingMethod": "SuSie", + "credibleSetSize": 4 + }, + { + "leadVariant": "17_63747701_G_A", + "pValue": 1.1540000438690186e-11, + "beta": 1.81591, + "finemappingMethod": "SuSie", + "credibleSetSize": 3 + } +]; + +// currently inefficient since finds correct chromosome +function cumulativePosition(id) { + const parts = id.split('_'); // not necessary in platform since can get in query + const [chromosome, position] = [parts[0], Number(parts[1])]; + return chromosomeInfo.find(elmt => elmt.chromosome === chromosome).start + position; +} +const genomePositions = {}; +credibleSets.forEach(({ leadVariant }) => { + genomePositions[leadVariant] = cumulativePosition(leadVariant); +}); + +const pValueMin = d3.min(credibleSets, d => d.pValue); +const pValueMax = 1; + + +// ========== plot ========== + +const background = '#fff'; +const markColor = '#3489ca'; + +export default function ManhattanPlot() { + return ( + + tickData.map(chromo => chromo.start)} tickLength={15}/> + + tickData.map(chromo => chromo.midpoint)} + format={(_, i, __, tickData) => tickData[i].chromosome} + padding={6} + /> + tickData.map(chromo => chromo.start)} stroke="#ccc" /> + + -log_10(pValue) + + + + -Math.log10(v)} /> + genomePositions[d.leadVariant]} + xx={d => genomePositions[d.leadVariant]} + y={d => d.pValue} + yy={pValueMax} + fill="transparent" + stroke={markColor} + strokeWidth={1} + strokeOpacity={0.7} + area={24} + /> + genomePositions[d.leadVariant]} + y={d => d.pValue} + fill={background} + fillOpacity={1} + stroke={markColor} + strokeWidth={1.2} + area={24} + /> + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/README.md b/packages/ui/src/components/Plot/README.md new file mode 100644 index 000000000..75707b81b --- /dev/null +++ b/packages/ui/src/components/Plot/README.md @@ -0,0 +1,243 @@ + +# TO DO +- NEXT: finish and check HTML - need to complete anchor code +- scales: + - allow `scales` to be function which takes the `data` prop (or passed down data) and returns an object so that can use the data to compute the scales + - test with discrete scales +- add remaining marks: can easily add simple marks using the current `Mark`. Will need to extend `Mark` to allow for 'compound marks' such as `Line` that create a single mark from multiple rows. Can do this by adding a `compound` prop to `Mark` and branching on this where create the mark(s) +- implement `clip` prop on a mark to clip it to the panel - see https://stackoverflow.com/questions/17388689/svg-clippath-and-transformations +- have not implemented `panelSize` prop? +- if error because no `MapX` or `mapY` is it clear that missing scale is the reason? +- legend +- wrap axis, ticks, ... components in memo - so only change when their props change. They will still change when/if the contexts they use change anyway (as they should) +- import local files from index where can to clean up +- Switch to TS + +-------- + +## Vis + +For an interactive plot - e.g. to use the `hover` prop of marks - wrap the plot in a `` component. This provides a context which is used internally to set and access selected data. + +We can also wrap multiple plots in a single `Vis` component to coordinate interaction across the plots. For example, hovering on a point in one plot and highlight the corresponding point in another plot. It's also possible to include non-plot content in the `Vis`. In this case the `useVisSelection` and `useVisUpdateSelection` hooks can be used explicitly to get/set selected data. + +> Note: CSS should be used to layout groups of plots - flex or grid is typically the most useful. + +## Plot + +An individual plot is created with the `` component. This creates its own context which makes the plot's data and options available to components inside the plot. + +Use the `responsive` prop of `Plot` (no value required) to have the width of the plot adapt to the parent container. Use `minWidth` and `maxWidth` to specify min and max widths for a responsive plot + +> Note: Props for widths, heights, minimum widths etc. should not include units. + +## Frame + +Use a `Frame` to use different scales on the same plot. + +Frames allow us to overlay multiple plots on the same panel. A frame goes inside a plot element but can take its own `data`, `scales`, `xTick`, `yTick`, `xReverse` and `yReverse` props - where used, these override those inherited from the plot. + +A frame can contain any of the components that a plot can contain - except for another frame. + +### Panel + +A plot's marks are drawn in a rectangular _panel_ computed from the the plot's size and padding. Including a `` inside a plot adds a `` at the correct size and position. Use props such as `fill` to style the rectangle - all props passed to the `Panel` are passed directly to the `rect`. + +### Scales + +The `x`, `y`, `fill`, `stroke`, `area` and `shape` channels require _scales_: functions that map values from 'data space' to 'plot space'. A scale should be a [D3 scale](https://d3js.org/d3-scale). The `x` and `y` scales should have domains but not ranges - these are added to the scale based on the panel dimensions. The other scales should have domains and ranges. + +Scales are passed inside a single `scales` prop of `Plot`, e.g. + +```jsx + +``` + +Notes: + +- If a D3 scale method is passed a single argument (e.g. `d3.scaleLinear([0, 100])`), the argument is interpreted as the range - use the `domain` method as in the example above to only specify a domain. + +- The domain used for the x and y scales determines the x and y limits of the plot. + +- The `xx` and `width` channels use the `x` scale. The `yy` and `height` channels use the `y` scale. + +- If different scales for the same channel are required within the same plot, frames can be used to overlay plots. + +- Channels not discussed in this section do not require scales - values in 'plot space' are used directly. + +- To use a flipped `x` scale that increases from right to left use the `xReverse` prop - it need not be given a value. Similarly, use `yReverse` for a flipped `y` scale. + +### Ticks + +There is an `XTick` component for creating and rendering the x ticks. An array of tick values can be passed to a `Plot` (or `Frame`) using the `xTick` prop. If no values are passed, default values are automatically created from the x scale. + +The `xTick` values from `Plot` are passed to `XTick`, `XGrid` and `XLabel` as the default `values` prop. Overwrite these values by using `values` explicitly. Alternatively, `values` can be a function - it is passed the `xTick` values from `Plot` and should return a new array of values. + +The `XLabel` component can take a `format` prop. This is a function that takes a tick value, its index, the array of tick values and the original array of tick values from `Plot`. The function should return the label value. + +The behavior described above is identical for the y dimension. + +## Data + +Data flows through a visualisation: `Plot` -> (`Frame` ->) mark components. + +Any of these components can take a `data` prop. The `data` component can be a data set or a function that is passed the data from the component above and should return a transformed data set for the component. + +If the `data` prop is not used, data is passed down from the parent component as is. + +The data used by mark components such as `` must be an iterable. A `` can still use data passed down to it that is not iterable, but the `data` prop must be used to transform the data into an iterable. + +## Marks + +### Multi marks + +__NOT ALL IMPLEMENTED__ + +One mark per data point: + +| Mark | Description | +|-----------|-------------| +| circle | circles | +| point | points | +| hBar | horizontal bars | +| vBar | vertical bars | +| rect | rectangles | +| arc | circular/annular sectors | +| segment | line segments | +| hLink | horizontal links | +| vLink | vertical links | +| edge | circular edges | +| text | text | +| path | path | + +### Single mark for multiple data points: + +__NOT IMPLEMENTED__ + +| Mark | Description | +|---------|-------------| +| line | line | +| hBand | horizontal band | +| vBand | vertical band | + +### Missing Data + +TODO: NAN AND INIFINITE THROW, NULL/UNDEFINED HANDLED BY MISSING PROP OF MARKS + +## Channels + +_Accessor functions_ are used to map data to channels. Each data point is passed to the accessor function along with its index; the function returns the value for that channel. Accessor functions are often very simple, e.g. `x={d => d.year}`. + +[???] For single marks such as lines, all channels except `x`, `xx`, `y`, `yy` must be constant. Accessor functions can still be used for these constant channels, but each function is only called once with arguments `null`, `null`, `data`. When an accessor is used, the channel is still constant in that the channel default is used if the accessor returns `null` or `undefined`. + +### Constants + +To set a channel value (e.g. `x` or `fill`) to be constant use an object as the channel prop, e.g. + +```jsx + d.cost} // use "cost" property of data + y={{ input: 10 }} // constant y value + fill={{ output: 'red' }} // constant fill value +/> +``` + +For channels that rely on a scale, use the `input` or `output` property to indicate if the constant value should be scaled (`input`) or used as-is (`output`). For channels such as `markDash` that do not rely on a scale, use the `output` property. + +For convenience, we can pass a number or string (the constant value) rather than an object. For channels that use the `x` or `y` scale, the constant is interpreted as an 'input' - i.e. the constant will be scaled. For all other channels, a number or string is interpreted as an output. Using this shorthand, the above example can be written as: + +```jsx + d.cost} // use "cost" property of data + y={10} // the y scale will be used to to get the actual y position + fill="red" // fill will be red - the fill scale will not be used +/> +``` + +To draw a single mark with all constant channels, use a data set of length 1: + +```jsx + +``` + +## Interaction + +TODO: ONLY HOVER CURRENTLY +- USE HOVER PROP IN NORMAL MARKS - VALUE CAN BE OMITTED OR STRING NAME TO REFER TO GROUP +- USE DATAFROM INSTEAD OF DATA IN MARK TO SHOW ON HOVER + +------ + +Notes: +- contexts: plot and frame are standard: everything will be redrawn when change anythng, but OK since will rarely change. Vis context split into get/set so that nothing redrawn on set and only selection marks drawn on get +- left out YTitle for now since rarely use old school rotated y axis title anymore. Can use an + XTitle with position='top' and textAnchor='end' +- currently always using indices for keys - may need to revisit this when think about animation, interaction, ... +- we can pass arbitrary attr values to ticks, labels etc, but not to marks - since all 'other props' are interpreted as channels. Can/should we allow passing arb attr values through to the svg element representing the mark? +- `responsive` prop: + - currently only repsonsive for width, but easy to make responsive on height since could use same pattern as for width and the `updateSize` action used with the plot context already handles height changes + - better design would be to separate dimensions and allow `width="responsive"` and `height="responsive"` + - adds an unstyled wrapper div (except for possibly min and max widths) which may be too simple for some situations. + +Add to docs above +- padding (on axis, ticks, ...) pushes them away from panel whereas dx,dy props are always in pixels and +ve x to right, +ve y downwards +- use e.g. `stroke` to change color in `XTick` - even though there is `tickColor` in defaults, this is not a prop +- API: components and props + +POSSIBLE!!: +- shorthand for linear scales: e.g. `x={[10, 40]}` - but then need to include d3 as dependency of the plot components - not so bad since clearly require d3 somehow if require d3 scales! +- border and cornerradius for the plot? - just as have for the panel +- ? HTML inserts - for tooltip, titles, insets, ...? + - could have an HTML mark? +- specify panel size, plot size or container size +- optional HTML wrapper the size of the container. Absolute poistioned and optional z-index. Useful for titles and text in some cases +- rely heavily on accessor functions +- faceting - this will prob limit the min x and y grid squares, but we should still be able to make the grid larger to include other plots - or overlay plots +- give elements classes so easily styled? +- conveinernce components to add xAxis, ticks, labels and title altogether +- currently keep all options values for components that have contexts in the context. However, really only need the options that may be used by descendent components in the context. +- Allow the data prop of a `Vis` component to be an asynchronous function where the returned promise resolves to the data. + - important for allowing skeleton and avoiding layout shift +- transitions +- allow more props in frames? - so can e.g. override channel defaults of plot +- allow more flexibility with data structure? - e.g. column-based data? +- should `missing` be at plot and frame level rather than just mark level? +- have e.g. a `constant` prop in marks so can avoid the hacky `data={[1]}` to draw a single mark when all props are constants +- do not have same channel defaults for all marks? - annoying that need to set `strokeWidth` to see lines +- just as have HTML mark, could have SVG mark, or even Plot mark to allow inlays +- since data can be any iterable, should also allow tick values (when actually used since can be transformed by `values`) to be any iterable rather than just an array +- end channels: front, facet (or row/column), ... +- larger capture zone for hover/selection of mark + +## Examples/Tests + +- use `data` of mark to filter data +- multuple y-axis +- have a before or after the axis title by using e.g. position="right", + overriding the textAnchor and using dx and dy +- rotated labels, in this case x labels at bottom: + + ```jsx + String(i).repeat(i + 1)} + textAnchor="end" + style={{ + transformOrigin: '100% 50%', + transformBox: 'fill-box', + transform: "rotate(-45deg)", + }} + /> + ``` \ No newline at end of file diff --git a/packages/ui/src/components/Plot/TestPlot.jsx b/packages/ui/src/components/Plot/TestPlot.jsx new file mode 100644 index 000000000..00eb5d2c1 --- /dev/null +++ b/packages/ui/src/components/Plot/TestPlot.jsx @@ -0,0 +1,47 @@ +import { VisProvider } from "./contexts/VisContext"; +import Plot from "./components/Plot" +import Panel from "./components/Panel"; +import XAxis from "./components/XAxis"; +import YAxis from "./components/YAxis"; +import Frame from "./components/Frame"; +import XTick from "./components/XTick"; +import YTick from "./components/YTick"; +import XLabel from "./components/XLabel"; +import * as d3 from "d3"; +import YLabel from "./components/YLabel"; +import XTitle from "./components/XTitle"; +import XGrid from "./components/XGrid"; +import YGrid from "./components/YGrid"; +import Circle from "./components/marks/Circle"; + +const data = [[0, 0], [25, 50], [50, 100]]; + +export default function TestPlot() { + return ( + // + + + + {/* ticks.map(t => t - 2)}/> */} + + + + + + + d[1]} /> + + // + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/Frame.jsx b/packages/ui/src/components/Plot/components/Frame.jsx new file mode 100644 index 000000000..709bd8c4e --- /dev/null +++ b/packages/ui/src/components/Plot/components/Frame.jsx @@ -0,0 +1,19 @@ +import { FrameProvider, useFrame } from "../contexts/FrameContext"; +import { usePlot } from "../contexts/PlotContext"; + +export default function Frame({ children, options }) { + const plot = usePlot(); + if (!plot) { + throw Error("Frame component must appear inside a Plot component"); + } + const outerFrame = useFrame(); + if (outerFrame) { + throw Error ('Frame components cannot be nested'); + } + + return ( + + {children} + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/Panel.jsx b/packages/ui/src/components/Plot/components/Panel.jsx new file mode 100644 index 000000000..fe813a107 --- /dev/null +++ b/packages/ui/src/components/Plot/components/Panel.jsx @@ -0,0 +1,21 @@ +import { usePlot } from "../contexts/PlotContext"; + +// use rectAttrs for e.g. fill, stroke, strokeWidth, rx, ... +export default function Panel(rectAttrs) { + const plot = usePlot(); + if (!plot) { + throw Error("Panel component must appear inside a Plot component"); + } + + const { panelWidth, panelHeight, padding} = plot; + + return ( + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/Plot.jsx b/packages/ui/src/components/Plot/components/Plot.jsx new file mode 100644 index 000000000..c06e1daa7 --- /dev/null +++ b/packages/ui/src/components/Plot/components/Plot.jsx @@ -0,0 +1,68 @@ +import { useRef, useEffect } from "react"; +import { useMeasure } from "@uidotdev/usehooks"; +import { PlotProvider, usePlot, usePlotDispatch } from "../contexts/PlotContext"; + +export default function Plot({ children, responsive, ...options }) { + return ( + + {responsive + ? {children} + : {children} + } + + ); +} + +function ResponsivePlot({ children }) { + const plotDispatch = usePlotDispatch(); + const [ref, { width }] = useMeasure(); + + useEffect(() => { + plotDispatch({ type: 'updateSize', width }) + }, [width]); + + const plot = usePlot(); + const { minWidth, maxWidth } = plot; + + const divStyle = {}; + if (minWidth != null) divStyle.minWidth = `${minWidth}px`; + if (maxWidth != null) divStyle.maxWidth = `${maxWidth}px`; + + return ( +
+ + {children} + +
+ ); +} + +function SVG({ children }) { + const plot = usePlot(); + const { width, height, background, cornerRadius } = plot; + + return ( + {(background !== 'transparent' || cornerRadius > 0) && + + } + {children} + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/XAxis.jsx b/packages/ui/src/components/Plot/components/XAxis.jsx new file mode 100644 index 000000000..e47ed6e84 --- /dev/null +++ b/packages/ui/src/components/Plot/components/XAxis.jsx @@ -0,0 +1,28 @@ +import { usePlot } from "../contexts/PlotContext"; + +export default function XAxis({ position = 'bottom', padding, ...lineAttrs }) { + + const plot = usePlot(); + if (!plot) { + throw Error("XAxis component must appear inside a Plot component"); + } + + // eslint-disable-next-line + padding ??= plot.axisPadding; + + const y = position === 'top' + ? plot.padding.top - padding + : plot.height - plot.padding.bottom + padding; + + return ( + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/XGrid.jsx b/packages/ui/src/components/Plot/components/XGrid.jsx new file mode 100644 index 000000000..037f63fc4 --- /dev/null +++ b/packages/ui/src/components/Plot/components/XGrid.jsx @@ -0,0 +1,44 @@ +import { usePlot } from "../contexts/PlotContext"; +import { useFrame } from "../contexts/FrameContext"; +import { fromFrameOrPlot } from "../util/fromFrameOrPlot"; +import { finalData } from "../util/finalData"; + +export default function XGrid({ values, ...lineAttrs }) { + + const plot = usePlot(); + if (!plot) { + throw Error("XGrid component must appear inside a Plot component"); + } + const frame = useFrame(); + + const ops = fromFrameOrPlot(['xTick', 'scales', 'xReverse'], frame, plot); + + const tickValues = finalData(ops.xTick, values); + if (!tickValues) return null; + + const xScale = ops.xReverse + ? v => plot.panelWidth - ops.scales.x(v) + : ops.scales.x; + + const leftOrigin = `translate(${plot.padding.left},${plot.padding.top})`; + + return ( + + {tickValues.map((v, i) => { + const x = xScale(v); + return ( + + ); + })} + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/XLabel.jsx b/packages/ui/src/components/Plot/components/XLabel.jsx new file mode 100644 index 000000000..88acc0058 --- /dev/null +++ b/packages/ui/src/components/Plot/components/XLabel.jsx @@ -0,0 +1,64 @@ +import { usePlot } from "../contexts/PlotContext"; +import { useFrame } from "../contexts/FrameContext"; +import { fromFrameOrPlot } from "../util/fromFrameOrPlot"; +import { finalData } from "../util/finalData"; + +export default function XLabel({ + values, + position = 'bottom', + padding, + dx = 0, + dy = 0, + format, + ...textAttrs + }) { + + const plot = usePlot(); + if (!plot) { + throw Error("XLabel component must appear inside a Plot component"); + } + const frame = useFrame(); + + const ops = fromFrameOrPlot(['xTick', 'scales', 'xReverse'], frame, plot); + + const tickValues = finalData(ops.xTick, values); + if (!tickValues) return null; + + // eslint-disable-next-line + padding ??= plot.labelPadding; + + const xScale = ops.xReverse + ? v => plot.panelWidth - ops.scales.x(v) + : ops.scales.x; + + const leftOrigin = `translate(${ + plot.padding.left + dx},${ + position === 'top' + ? plot.padding.top - padding + dy + : plot.height - plot.padding.bottom + padding + dy + })`; + + return ( + + {tickValues.map((v, i) => { + return ( + + {format ? format(v, i, tickValues, ops.xTick) : v} + + ); + })} + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/XTick.jsx b/packages/ui/src/components/Plot/components/XTick.jsx new file mode 100644 index 000000000..1a57aa133 --- /dev/null +++ b/packages/ui/src/components/Plot/components/XTick.jsx @@ -0,0 +1,62 @@ +import { usePlot } from "../contexts/PlotContext"; +import { useFrame } from "../contexts/FrameContext"; +import { fromFrameOrPlot } from "../util/fromFrameOrPlot"; +import { finalData } from "../util/finalData"; + +export default function XTick({ + values, + position = 'bottom', + padding, + tickLength, + ...lineAttrs + }) { + + const plot = usePlot(); + if (!plot) { + throw Error("XTick component must appear inside a Plot component"); + } + const frame = useFrame(); + + const ops = fromFrameOrPlot(['xTick', 'scales', 'xReverse'], frame, plot); + + // eslint-disable-next-line + padding ??= plot.tickPadding; + + const tickValues = finalData(ops.xTick, values); + if (!tickValues) return null; + + const xScale = ops.xReverse + ? v => plot.panelWidth - ops.scales.x(v) + : ops.scales.x; + + const leftOrigin = `translate(${ + plot.padding.left},${ + position === 'top' + ? plot.padding.top - padding + : plot.height - plot.padding.bottom + padding + })`; + + // eslint-disable-next-line + tickLength ??= plot.tickLength; + const y2 = position === 'top' ? -tickLength : tickLength; + + return ( + + {tickValues.map((v, i) => { + const x = xScale(v); + return ( + + ); + })} + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/XTitle.jsx b/packages/ui/src/components/Plot/components/XTitle.jsx new file mode 100644 index 000000000..018f1c783 --- /dev/null +++ b/packages/ui/src/components/Plot/components/XTitle.jsx @@ -0,0 +1,63 @@ +import { usePlot } from "../contexts/PlotContext"; + +export default function XTitle({ + children, + position = 'bottom', + align = 'center', // 'left', 'center' or 'right' + padding, + dx = 0, + dy = 0, + ...textAttrs // be very careful if change the transform-related CSS props + // used in the element + }) { + + const plot = usePlot(); + if (!plot) { + throw Error("XTitle component must appear inside a Plot component"); + } + + if (!children) return null; + + // eslint-disable-next-line + padding ??= plot.titlePadding; + + let x, textAnchor; + if (align === 'left') { + x = plot.padding.left; + textAnchor = 'start'; + } else if (align === 'right') { + x = plot.width - plot.padding.right; + textAnchor = 'end'; + } else { + x = plot.padding.left + plot.panelWidth / 2; + textAnchor = 'middle'; + } + x += dx; + + let y, alignmentBaseline; + if (position === 'top') { + y = plot.padding.top - padding; + alignmentBaseline = 'baseline'; + } else { + y = plot.height - plot.padding.bottom + padding; + alignmentBaseline = 'hanging'; + } + y += dy; + + return ( + + {children} + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/YAxis.jsx b/packages/ui/src/components/Plot/components/YAxis.jsx new file mode 100644 index 000000000..93fb978e3 --- /dev/null +++ b/packages/ui/src/components/Plot/components/YAxis.jsx @@ -0,0 +1,28 @@ +import { usePlot } from "../contexts/PlotContext"; + +export default function YAxis({ position = 'left', padding, ...lineAttrs }) { + + const plot = usePlot(); + if (!plot) { + throw Error("YAxis component must appear inside a Plot component"); + } + + // eslint-disable-next-line + padding ??= plot.axisPadding; + + const x = position === 'right' + ? plot.width - plot.padding.right + padding + : plot.padding.left - padding; + + return ( + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/YGrid.jsx b/packages/ui/src/components/Plot/components/YGrid.jsx new file mode 100644 index 000000000..31f5f0ab4 --- /dev/null +++ b/packages/ui/src/components/Plot/components/YGrid.jsx @@ -0,0 +1,44 @@ +import { usePlot } from "../contexts/PlotContext"; +import { useFrame } from "../contexts/FrameContext"; +import { fromFrameOrPlot } from "../util/fromFrameOrPlot"; +import { finalData } from "../util/finalData"; + +export default function YGrid({ values, ...lineAttrs }) { + + const plot = usePlot(); + if (!plot) { + throw Error("YGrid component must appear inside a Plot component"); + } + const frame = useFrame(); + + const ops = fromFrameOrPlot(['yTick', 'scales', 'yReverse'], frame, plot); + + const tickValues = finalData(ops.yTick, values); + if (!tickValues) return null; + + const yScale = ops.yReverse + ? ops.scales.y + : v => plot.panelHeight - ops.scales.y(v); + + const topOrigin = `translate(${plot.padding.left},${plot.padding.top})`; + + return ( + + {tickValues.map((v, i) => { + const y = yScale(v); + return ( + + ); + })} + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/YLabel.jsx b/packages/ui/src/components/Plot/components/YLabel.jsx new file mode 100644 index 000000000..73f8e4e23 --- /dev/null +++ b/packages/ui/src/components/Plot/components/YLabel.jsx @@ -0,0 +1,64 @@ +import { usePlot } from "../contexts/PlotContext"; +import { useFrame } from "../contexts/FrameContext"; +import { fromFrameOrPlot } from "../util/fromFrameOrPlot"; +import { finalData } from "../util/finalData"; + +export default function YLabel({ + values, + position = 'left', + padding, + dx = 0, + dy = 0, + format, + ...textAttrs + }) { + + const plot = usePlot(); + if (!plot) { + throw Error("YLabel component must appear inside a Plot component"); + } + const frame = useFrame(); + + const ops = fromFrameOrPlot(['yTick', 'scales', 'yReverse'], frame, plot); + + const tickValues = finalData(ops.yTick, values); + if (!tickValues) return null; + + // eslint-disable-next-line + padding ??= plot.labelPadding; + + const yScale = ops.yReverse + ? ops.scales.y + : v => plot.panelHeight - ops.scales.y(v); + + const topOrigin = `translate(${ + position === 'right' + ? plot.width - plot.padding.right + padding + dx + : plot.padding.left - padding + dx},${ + plot.padding.top + dy + })`; + + return ( + + {tickValues.map((v, i) => { + return ( + + {format ? format(v, i, tickValues, ops.yTick) : v} + + ); + })} + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/YTick.jsx b/packages/ui/src/components/Plot/components/YTick.jsx new file mode 100644 index 000000000..426e1a7e7 --- /dev/null +++ b/packages/ui/src/components/Plot/components/YTick.jsx @@ -0,0 +1,63 @@ +import { usePlot } from "../contexts/PlotContext"; +import { useFrame } from "../contexts/FrameContext"; +import { fromFrameOrPlot } from "../util/fromFrameOrPlot"; +import { finalData } from "../util/finalData"; + +export default function YTick({ + values, + position = 'left', + padding, + tickLength, + ...lineAttrs + }) { + + const plot = usePlot(); + if (!plot) { + throw Error("YTick component must appear inside a Plot component"); + } + const frame = useFrame(); + + const ops = + fromFrameOrPlot(['yTick', 'scales', 'yReverse'], frame, plot); + + // eslint-disable-next-line + padding ??= plot.tickPadding; + + const tickValues = finalData(ops.yTick, values); + if (!tickValues) return null; + + const yScale = ops.yReverse + ? ops.scales.y + : v => plot.panelHeight - ops.scales.y(v); + + const topOrigin = `translate(${ + position === 'right' + ? plot.width - plot.padding.right + padding + : plot.padding.left - padding},${ + plot.padding.top + })`; + + // eslint-disable-next-line + tickLength ??= plot.tickLength; + const x2 = position === 'right' ? tickLength : -tickLength; + + return ( + + {tickValues.map((v, i) => { + const y = yScale(v); + return ( + + ); + })} + + ); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/marks/Circle.jsx b/packages/ui/src/components/Plot/components/marks/Circle.jsx new file mode 100644 index 000000000..5dd1dbcf9 --- /dev/null +++ b/packages/ui/src/components/Plot/components/marks/Circle.jsx @@ -0,0 +1,57 @@ +import Mark from "./Mark"; + +export default function Circle({ + data, + dataFrom, + missing = 'throw', + hover, + ...accessors + }) { + + const markChannels = [ + 'x', + 'y', + 'dx', + 'dy', + 'fill', + 'fillOpacity', + 'stroke', + 'strokeOpacity', + 'strokeWidth', + 'strokeCap', + 'strokeDasharray', + 'area', + 'pointerEvents', + ]; + + const tagName = 'circle'; + + function createAttrs(row) { + const attrs = { + cx: row.x + row.dx, + cy: row.y + row.dy, + r: Math.sqrt(row.area / Math.PI), + fill: row.fill, + fillOpacity: row.fillOpacity, + stroke: row.stroke, + strokeOpacity: row.strokeOpacity, + strokeWidth: row.strokeWidth, + }; + if (row.strokeCap) attrs.strokeCap = row.strokeCap; + if (row.strokeDasharray) attrs.strokeDasharray = row.strokeDasharray; + if (row.pointerEvents) attrs.pointerEvents = row.pointerEvents; + return attrs; + } + + return ; + +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/marks/HTML.jsx b/packages/ui/src/components/Plot/components/marks/HTML.jsx new file mode 100644 index 000000000..c58cb5bf4 --- /dev/null +++ b/packages/ui/src/components/Plot/components/marks/HTML.jsx @@ -0,0 +1,75 @@ +import Mark from "./Mark"; + +export default function HTML({ + data, + dataFrom, + missing = 'throw', + hover, + ...accessors + }) { + + const markChannels = [ + 'x', + 'y', + 'dx', + 'dy', + 'pxWidth', + 'pxHeight', + 'content', + 'anchor', + 'pointerEvents', + ]; + + const tagName = 'foreignObject'; + + function createAttrs(row) { + const attrs = { + width: row.pxWidth, + height: row.pxHeight, + }; + const [x, y] = + anchorPoint(row.x, row.y, row.pxWidth, row.pxHeight, row.anchor); + attrs.x = x + row.dx; + attrs.y = y + row.dy; + if (row.pointerEvents) attrs.pointerEvents = row.pointerEvents; + return attrs; + } + + function createContent(row) { + return ( +
+ {row.content} +
+ ); + } + + return ; + +} + +function anchorPoint(x, y, w, h, anchor) { + switch (anchor) { + case 'middle': return [x - w / 2, y - h / 2]; + case 'top': return [x - w / 2, y]; + case 'top-right': return [x - w, y]; + case 'right': return [x - w, y]; + case 'bottom-right': return [x - w, y - h]; + case 'bottom': return [x - w / 2, y - h]; + case 'bottom-left': return [x, y - h]; + case 'left': return [x, y - h / 2]; + default: return [x, y]; // 'top-left' + } +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/marks/Mark.jsx b/packages/ui/src/components/Plot/components/marks/Mark.jsx new file mode 100644 index 000000000..6ec715466 --- /dev/null +++ b/packages/ui/src/components/Plot/components/marks/Mark.jsx @@ -0,0 +1,9 @@ +import StandardMark from "./StandardMark"; +import SelectionMark from "./SelectionMark"; + +export default function Mark(props) { + return props.dataFrom + ? + : ; + +}; \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/marks/Segment.jsx b/packages/ui/src/components/Plot/components/marks/Segment.jsx new file mode 100644 index 000000000..f5268354e --- /dev/null +++ b/packages/ui/src/components/Plot/components/marks/Segment.jsx @@ -0,0 +1,55 @@ +import Mark from "./Mark"; + +export default function Segment({ + data, + dataFrom, + missing = 'throw', + hover, + ...accessors + }) { + + const markChannels = [ + 'x', + 'xx', + 'y', + 'yy', + 'dx', + 'dy', + 'stroke', + 'strokeOpacity', + 'strokeWidth', + 'strokeCap', + 'strokeDasharray', + 'pointerEvents', + ]; + + const tagName = 'line'; + + function createAttrs(row) { + const attrs = { + x1: row.x + row.dx, + y1: row.y + row.dy, + x2: row.xx + row.dx, + y2: row.yy + row.dy, + stroke: row.stroke, + strokeOpacity: row.strokeOpacity, + strokeWidth: row.strokeWidth, + }; + if (row.strokeCap) attrs.strokeCap = row.strokeCap; + if (row.strokeDasharray) attrs.strokeDasharray = row.strokeDasharray; + if (row.pointerEvents) attrs.pointerEvents = row.pointerEvents; + return attrs; + } + + return ; + +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/marks/SelectionMark.jsx b/packages/ui/src/components/Plot/components/marks/SelectionMark.jsx new file mode 100644 index 000000000..14f4435dc --- /dev/null +++ b/packages/ui/src/components/Plot/components/marks/SelectionMark.jsx @@ -0,0 +1,96 @@ +import { memo } from "react"; +import { useVisSelection } from "../../contexts/VisContext"; +import { usePlot } from "../../contexts/PlotContext"; +import { useFrame } from "../../contexts/FrameContext"; +import { fromFrameOrPlot } from "../../util/fromFrameOrPlot"; +import { isIterable } from "../../util/helpers"; +import { finalData } from "../../util/finalData"; +import { processAccessors } from "../../util/processAccessors"; +import { rowValues } from "../../util/rowValues"; +import { OTHER } from "../../util/constants"; +import DynamicTag from "../util/DynamicTag"; + +export default memo(function SelectionMark({ + data, + dataFrom, // SelectionMark is only used when the dataFrom prop is used + missing, + accessors, + markChannels, + tagName, + createAttrs, + createContent, + }) { + + const visSelection = useVisSelection(); + if (!visSelection) { + throw Error("the dataFrom prop can only be used inside a Vis component"); + } + + const plot = usePlot(); + if (!plot) { + throw Error("mark components must appear inside a Plot component"); + } + + const frame = useFrame(); + const ops = fromFrameOrPlot(['data', 'scales', 'mapX', 'mapY'], frame, plot); + const { scales, mapX, mapY } = ops; + + const parts = dataFrom.trim().split('-'); + const selectionType = parts[0]; + const selectionLabel = parts.slice(1).join('-') || OTHER; + if (selectionType !== 'hover') { + throw Error(`"${selectionType}" is not a valid selection type`); + } + if (data && typeof data !== 'function') { + throw Error( + 'when the dataFrom prop is used, the data prop must be omitted or be a function' + ); + } + const selectedData = visSelection[selectionType][selectionLabel]; + // eslint-disable-next-line + data = selectedData ? finalData(selectedData, data) : []; + + const finalAccessors = processAccessors({ + markChannels, + accessors, + scales, + mapX, + mapY, + }); + + const marks = []; + + let rowIndex = 0; + for (const d of data) { + const row = rowValues({ + rowIndex, + rowData: d, + missing, + finalAccessors, + scales, + mapX, + mapY, + }); + + if (row != null) { + const attrs = createAttrs(row); + attrs.pointerEvents ??= "none"; + marks.push( + + {createContent?.(row)} + + ); + } + + rowIndex += 1; + } + + if (marks.length === 0) return null; + + return ( + + {marks} + + ); + +}); \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/marks/StandardMark.jsx b/packages/ui/src/components/Plot/components/marks/StandardMark.jsx new file mode 100644 index 000000000..4a7ac06c5 --- /dev/null +++ b/packages/ui/src/components/Plot/components/marks/StandardMark.jsx @@ -0,0 +1,101 @@ +import { memo } from "react"; +import { useVisUpdateSelection } from "../../contexts/VisContext"; +import { usePlot } from "../../contexts/PlotContext"; +import { useFrame } from "../../contexts/FrameContext"; +import { fromFrameOrPlot } from "../../util/fromFrameOrPlot"; +import { isIterable } from "../../util/helpers"; +import { finalData } from "../../util/finalData"; +import { processAccessors } from "../../util/processAccessors"; +import { rowValues } from "../../util/rowValues"; +import { OTHER } from "../../util/constants"; +import DynamicTag from "../util/DynamicTag"; + +export default memo(function StandardMark({ + data, + missing, + hover, + accessors, + markChannels, + tagName, + createAttrs, + createContent, + }) { + + const visUpdateSelection = useVisUpdateSelection(); + if (hover && !visUpdateSelection) { + throw Error("hover props can only be used inside a Vis component"); + } + + const plot = usePlot(); + if (!plot) { + throw Error("mark components must appear inside a Plot component"); + } + + const frame = useFrame(); + const ops = fromFrameOrPlot(['data', 'scales', 'mapX', 'mapY'], frame, plot); + const { scales, mapX, mapY } = ops; + + // eslint-disable-next-line + data = finalData(ops.data, data); + if (!isIterable(data)) { + throw Error('mark data must be an iterable'); + } + + const finalAccessors = processAccessors({ + markChannels, + accessors, + scales, + mapX, + mapY, + }); + + const marks = []; + + let rowIndex = 0; + for (const d of data) { + const row = rowValues({ + rowIndex, + rowData: d, + missing, + finalAccessors, + scales, + mapX, + mapY, + }); + + if (row != null) { + const attrs = createAttrs(row); + + if (hover) { + const selectionLabel = typeof hover === 'string' ? hover : OTHER; + attrs.onMouseEnter = () => visUpdateSelection( + 'hover', + selectionLabel, + [d], + ); + attrs.onMouseLeave = () => visUpdateSelection( + 'hover', + selectionLabel, + null, + ); + } + + marks.push( + + {createContent?.(row)} + + ); + } + + rowIndex += 1; + } + + if (marks.length === 0) return null; + + return ( + + {marks} + + ); + +}); \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/marks/Text.jsx b/packages/ui/src/components/Plot/components/marks/Text.jsx new file mode 100644 index 000000000..85867fcfa --- /dev/null +++ b/packages/ui/src/components/Plot/components/marks/Text.jsx @@ -0,0 +1,73 @@ +import Mark from "./Mark"; + +export default function Text({ + data, + dataFrom, + missing = 'throw', + hover, + ...accessors + }) { + + const markChannels = [ + 'x', + 'y', + 'dx', + 'dy', + 'fill', + 'fillOpacity', + 'text', + 'fontFamily', + 'fontSize', + 'fontStyle', + 'fontWeight', + 'textAnchor', + 'dominantBaseline', + 'transformOrigin', + 'transformBox', + 'transform', + 'pointerEvents', + ]; + + const tagName = 'text'; + + function createAttrs(row) { + const style = { + transformOrigin: row.transformOrigin, + transformBox: row.transformBox, + } + if (row.transform) style.transform = row.transform; + + const attrs = { + x: row.x + row.dx, + y: row.y + row.dy, + fill: row.fill, + fillOpacity: row.fillOpacity, + fontFamily: row.fontFamily, + fontSize: row.fontSize, + fontStyle: row.fontStyle, + fontWeight: row.fontWeight, + textAnchor: row.textAnchor, + dominantBaseline: row.dominantBaseline, + style, + }; + if (row.pointerEvents) attrs.pointerEvents = row.pointerEvents; + return attrs; + } + + function createContent(row) { + return row.text; + } + + return ; + +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/util/DynamicTag.jsx b/packages/ui/src/components/Plot/components/util/DynamicTag.jsx new file mode 100644 index 000000000..5f3903399 --- /dev/null +++ b/packages/ui/src/components/Plot/components/util/DynamicTag.jsx @@ -0,0 +1,4 @@ +export default function DynamicTag({ tagName, children, ...props }) { + const Tag = tagName; // capitalize to use it as a component + return {children}; +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/contexts/FrameContext.jsx b/packages/ui/src/components/Plot/contexts/FrameContext.jsx new file mode 100644 index 000000000..ed07ec6d8 --- /dev/null +++ b/packages/ui/src/components/Plot/contexts/FrameContext.jsx @@ -0,0 +1,62 @@ + +import { createContext, useContext, useReducer } from 'react'; +import { usePlot } from './PlotContext'; +import { finalData } from '../util/finalData'; +import { addXYMaps } from '../util/addXYMaps'; +import { onlyValidScales } from '../util/assert'; + +const FrameContext = createContext(null); +const FrameDispatchContext = createContext(null); + +export function FrameProvider({ + children, + data, + scales = {}, + xTick, + yTick, + xReverse, + yReverse, + }) { + + const plot = usePlot(); + + const initialState = { data, scales, xTick, yTick, xReverse, yReverse }; + initialState.data = finalData(plot.data, initialState.data); + onlyValidScales(scales); + scales.x?.range?.([0, plot.width]); + scales.y?.range?.([0, plot.height]); + addXYMaps(initialState); + if (!xTick && scales.x) { + initialState.xTick = scales.x?.ticks?.() ?? scales.x?.domain(); + } + if (!yTick && scales.y) { + initialState.yTick = scales.y?.ticks?.() ?? scales.y.domain(); + } + for (let [key, value] of Object.entries(plot.scales)) { + scales[key] ??= value; + } + + const [state, stateDispatch] = useReducer(reducer, initialState); + + return ( + + + {children} + + + ); +} + +// export hooks +export function useFrame() { + return useContext(FrameContext); +} + +export function useFrameDispatch() { + return useContext(FrameDispatchContext); +} + +// data reducer +function reducer(state, action) { + +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/contexts/PlotContext.jsx b/packages/ui/src/components/Plot/contexts/PlotContext.jsx new file mode 100644 index 000000000..0f842e0cd --- /dev/null +++ b/packages/ui/src/components/Plot/contexts/PlotContext.jsx @@ -0,0 +1,71 @@ + +import { createContext, useContext, useReducer } from 'react'; +import { safeAssign } from '../util/helpers'; +import { plotDefaults } from '../defaults/plotDefaults'; +import { addXYMaps } from '../util/addXYMaps'; +import { onlyValidScales } from '../util/assert'; + +const PlotContext = createContext(null); +const PlotDispatchContext = createContext(null); + +export function PlotProvider({ children, options }) { + + const initialState = safeAssign({ ...plotDefaults }, options); + + // compute values related to plot size and panel spacing + let { padding } = initialState; + if (typeof padding === 'number') { + padding = { top: padding, right: padding, bottom: padding, left: padding }; + initialState.padding = padding; + } + const { scales } = initialState; + onlyValidScales(scales); + updateSize(initialState); + + const [state, stateDispatch] = useReducer(reducer, initialState); + + return ( + + + {children} + + + ); +} + +// export hooks +export function usePlot() { + return useContext(PlotContext); +} + +export function usePlotDispatch() { + return useContext(PlotDispatchContext); +} + +function reducer(state, action) { + + switch(action.type) { + + case 'updateSize': { + const newState = { ...state }; + updateSize(newState, action.width, action.height); + return newState; + } + + } + +} + +// update width and height of state and properties that depend on them +function updateSize(state, width, height) { + if (width != null) state.width = width; + if (height != null) state.height = height; + const { padding, scales } = state; + state.panelWidth = state.width - padding.left - padding.right; + state.panelHeight = state.height - padding.top - padding.bottom; + scales.x?.range?.([0, state.panelWidth]); + scales.y?.range?.([0, state.panelHeight]); + addXYMaps(state); + state.xTick ??= scales.x?.ticks?.() ?? scales.x?.domain(); + state.yTick ??= scales.y?.ticks?.() ?? scales.y?.domain(); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/contexts/VisContext.jsx b/packages/ui/src/components/Plot/contexts/VisContext.jsx new file mode 100644 index 000000000..e30b0c687 --- /dev/null +++ b/packages/ui/src/components/Plot/contexts/VisContext.jsx @@ -0,0 +1,40 @@ +import { createContext, useContext, useState, useCallback } from 'react'; + +const SelectionContext = createContext(null); +const UpdateSelectionContext = createContext(null); + +// provider +export function Vis({ children }) { + const [selection, setSelection] = useState({ hover: {} }); + const updateSelection = useCallback( + (selectionType, selectionLabel, selectionData) => { + const newSelection = { ...selection }; + if (selectionType === 'hover') { + const currentData = newSelection[selectionType][selectionLabel]; + if (currentData === selectionData || + currentData?.[0] === selectionData?.[0]) { + return; + } + newSelection[selectionType][selectionLabel] = selectionData; + setSelection(newSelection); + } + }, + [] + ); + + return ( + + + {children} + + + ); +} + +export function useVisSelection() { + return useContext(SelectionContext); +} + +export function useVisUpdateSelection() { + return useContext(UpdateSelectionContext); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/defaults/channelDefaults.js b/packages/ui/src/components/Plot/defaults/channelDefaults.js new file mode 100644 index 000000000..1edcef5fe --- /dev/null +++ b/packages/ui/src/components/Plot/defaults/channelDefaults.js @@ -0,0 +1,42 @@ +export const channelDefaults = { + + // common + x: 0, + y: 0, + dx: 0, // pixels + dy: 0, // pixels + fill: '#000', + fillOpacity: 1, + stroke: '#000', + strokeOpacity: 1, + strokeWidth: 0, // !! MUST SET STROKE WIDTHS TO SEE LINES !! + strokeCap: null, + strokeDasharray: null, + pointerEvents: null, // though 'none' is the default for selection marks + + // special - only used by one/few marks + xx: 0, // HBar, Segment, HLink, VLink, Edge, VBand + yy: 0, // VBar, Segment, HLink, VLink, Edge, HBand + shape: 'circle', // Point + area: 36, // Circle, Point + cornerRadius: null, // HBar, VBar, Rect + width: 1, // VBar, Rect, (x units) + height: 1, // HBar, Rect, (y units) + pxWidth: 1, // VBar, Rect, HTML (pixels) + pxHeight: 1, // HBar, Rect, HTML (pixels) + tension: 0.5, // Edge + clockwise: true, // Edge + path: null, // Path + text: '', // Text + fontFamily: 'sans-serif', // Text + fontSize: '11px', // Text + fontStyle: 'normal', // Text + fontWeight: 'normal', // Text + textAnchor: 'middle', // Text + dominantBaseline: 'middle', // Text + transformOrigin: 'center', // Text (CSS) + transformBox: 'fill-box', // Text (CSS) + transform: null, // Text (CSS) + content: null, // HTML + anchor: 'top-left' // HTML +}; \ No newline at end of file diff --git a/packages/ui/src/components/Plot/defaults/plotDefaults.js b/packages/ui/src/components/Plot/defaults/plotDefaults.js new file mode 100644 index 000000000..3176a6f87 --- /dev/null +++ b/packages/ui/src/components/Plot/defaults/plotDefaults.js @@ -0,0 +1,38 @@ +export const plotDefaults = { + + data: null, + scales: {}, + xReverse: false, + yReverse: false, + width: 260, + minWidth: null, + maxWidth: null, + height: 260, + setPanelSize: false, + padding: 40, // number or object with props 'top', 'left', 'bottom', 'right' + background: 'transparent', + cornerRadius: 0, + + // font defaults for labels and titles - not used by marks + fontFamily: 'sans-serif', + fontSize: '11px', + fontStyle: 'normal', + fontWeight: 'normal', + fontColor: '#000', + + // axis, titles, ticks, labels + axisPadding: 0, // axis, tick, label and title padding is from edge of panel + axisColor: '#888', + axisWidth: 1, + tickPadding: 0, + tickColor: '#888', + tickLength: 5, + tickWidth: 1, + labelPadding: 7, + titlePadding: 24, + gridColor: '#ddd', + gridWidth: 1, + xTick: null, + yTick: null, + +}; \ No newline at end of file diff --git a/packages/ui/src/components/Plot/index.js b/packages/ui/src/components/Plot/index.js new file mode 100644 index 000000000..db2ff9b2f --- /dev/null +++ b/packages/ui/src/components/Plot/index.js @@ -0,0 +1,21 @@ +export { + Vis, + useVisSelection, + useVisUpdateSelection, +} from "./contexts/VisContext"; +export { default as Frame } from "./components/XAxis"; +export { default as Panel } from "./components/Panel"; +export { default as Plot } from "./components/Plot"; +export { default as XAxis } from "./components/XAxis"; +export { default as XGrid } from "./components/XGrid"; +export { default as XLabel } from "./components/XLabel"; +export { default as XTick } from "./components/XTick"; +export { default as XTitle } from "./components/XTitle"; +export { default as YAxis } from "./components/YAxis"; +export { default as YGrid } from "./components/YGrid"; +export { default as YLabel } from "./components/YLabel"; +export { default as YTick } from "./components/YTick"; +export { default as Circle } from "./components/marks/Circle"; +export { default as Segment } from "./components/marks/Segment"; +export { default as Text } from "./components/marks/Text"; +export { default as HTML } from "./components/marks/HTML"; \ No newline at end of file diff --git a/packages/ui/src/components/Plot/util/addXYMaps.js b/packages/ui/src/components/Plot/util/addXYMaps.js new file mode 100644 index 000000000..594ffd2d0 --- /dev/null +++ b/packages/ui/src/components/Plot/util/addXYMaps.js @@ -0,0 +1,17 @@ +export function addXYMaps(state) { + + const { scales } = state; + + if (scales.x) { + state.mapX = state.xReverse + ? v => state.panelWidth - scales.x(v) + : scales.x; + } + + if (scales.y) { + state.mapY = state.yReverse + ? scales.y + : v => state.panelHeight - scales.y(v); + } + +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/util/assert.js b/packages/ui/src/components/Plot/util/assert.js new file mode 100644 index 000000000..9a52ab9fb --- /dev/null +++ b/packages/ui/src/components/Plot/util/assert.js @@ -0,0 +1,16 @@ +import { validScales } from '../util/scaleChannels'; +import { isInfiniteOrNaN } from './helpers'; + +export function noInfiniteOrNaN(value, channel) { + if (isInfiniteOrNaN(value)) { + throw Error(`invalid value: ${value}, (channel: ${channel})`); + } +} + +export function onlyValidScales(scales) { + for (let channel of Object.keys(scales)) { + if (!validScales.has(channel)) { + throw Error(`unexpected scale: ${channel}`); + } + } +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/util/constants.js b/packages/ui/src/components/Plot/util/constants.js new file mode 100644 index 000000000..e540d2ae2 --- /dev/null +++ b/packages/ui/src/components/Plot/util/constants.js @@ -0,0 +1 @@ +export const OTHER = '__other__'; \ No newline at end of file diff --git a/packages/ui/src/components/Plot/util/finalData.js b/packages/ui/src/components/Plot/util/finalData.js new file mode 100644 index 000000000..1283db769 --- /dev/null +++ b/packages/ui/src/components/Plot/util/finalData.js @@ -0,0 +1,10 @@ +export function finalData(oldValue, newValue) { + if (newValue == null) return oldValue; + if (typeof newValue === 'function') { + if (oldValue == null) { + throw Error('data to transform is null or undefined'); + } + return newValue(oldValue); + } + return newValue; +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/util/fromFrameOrPlot.js b/packages/ui/src/components/Plot/util/fromFrameOrPlot.js new file mode 100644 index 000000000..6c5099049 --- /dev/null +++ b/packages/ui/src/components/Plot/util/fromFrameOrPlot.js @@ -0,0 +1,8 @@ +// can omit frame and pass plot as second argument +export function fromFrameOrPlot(keys, frame, plot) { + const o = {}; + for (const key of keys) { + o[key] = frame?.[key] ?? plot?.[key]; + } + return o; +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/util/helpers.js b/packages/ui/src/components/Plot/util/helpers.js new file mode 100644 index 000000000..32e749d59 --- /dev/null +++ b/packages/ui/src/components/Plot/util/helpers.js @@ -0,0 +1,19 @@ + +// like Object.assign, but only copies to properties that original object +// already has +export function safeAssign(obj, newObj) { + for (let [key, value] of Object.entries(newObj)) { + if (Object.hasOwn(obj, key)) { + obj[key] = value; + } + } + return obj; +} + +export function isIterable(value) { + return value != null && typeof value[Symbol.iterator] === 'function'; +} + +export function isInfiniteOrNaN(value) { + return value === Infinity || value === -Infinity || Number.isNaN(value); +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/util/processAccessors.js b/packages/ui/src/components/Plot/util/processAccessors.js new file mode 100644 index 000000000..be8890f2c --- /dev/null +++ b/packages/ui/src/components/Plot/util/processAccessors.js @@ -0,0 +1,67 @@ +import { channelDefaults } from "../defaults/channelDefaults"; +import { noInfiniteOrNaN } from "./assert"; +import { scaleChannels } from "./scaleChannels"; +import { scaleValue } from "./scaleValue"; + +const autoScaleChannels = new Set(['x', 'xx', 'width', 'y', 'yy', 'height']); + +export function processAccessors({ + markChannels, + accessors, + scales, + mapX, + mapY, + }) { + + const newAccessors = new Map(); + + for (const channel of markChannels) { + + const acc = accessors[channel]; + + // channel omitted - use default value or ignore channel + if (acc == null) { + const value = channelDefaults[channel]; + if (value != null) { + newAccessors.set(channel, value); + } + + // constant channel + } else if (typeof acc === 'object' || + typeof acc === 'number' || + typeof acc === 'string') { + let input, output; + if (typeof acc === 'object') { + ({ input, output } = acc); + } else { + autoScaleChannels.has(channel) ? (input = acc) : (output = acc); + } + let value = output; + if (input != null) { + if (!scaleChannels.has(channel)) { + throw Error(`cannot use an 'input constant' for ${channel} channel`); + } + value = scaleValue({ input, channel, scales, mapX, mapY}); + } + noInfiniteOrNaN(value); + if (value == null) { + value = channelDefaults[channel]; + } + if (value != null) { + newAccessors.set(channel, value); + } + + // dynamic channel + } else if (typeof acc === 'function') { + newAccessors.set(channel, acc); + + // invalid accessor + } else { + throw Error(`invalid accessor (channel: ${channel})`); + } + + } + + return newAccessors; + +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/util/rowValues.js b/packages/ui/src/components/Plot/util/rowValues.js new file mode 100644 index 000000000..bf1feb56f --- /dev/null +++ b/packages/ui/src/components/Plot/util/rowValues.js @@ -0,0 +1,36 @@ +import { scaleValue } from "./scaleValue"; +import { noInfiniteOrNaN } from "./assert"; + +export function rowValues({ + rowIndex, + rowData, + missing, + finalAccessors, + scales, + mapX, + mapY, + }) { + + const values = {}; + + for (const [channel, accessor] of finalAccessors) { + let value = accessor; + if (typeof accessor === 'function') { + value = accessor(rowData, rowIndex); + noInfiniteOrNaN(value, channel); + } + if (value == null) { + if (missing === 'throw') { + throw Error(`missing value (channel: ${channel})`); + } + return null; + } + if (typeof accessor === 'function') { // constants already scaled + value = scaleValue({ input: value, channel, scales, mapX, mapY }); + } + values[channel] = value; + } + + return values; + +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/util/scaleChannels.js b/packages/ui/src/components/Plot/util/scaleChannels.js new file mode 100644 index 000000000..610bbe756 --- /dev/null +++ b/packages/ui/src/components/Plot/util/scaleChannels.js @@ -0,0 +1,22 @@ +export const scaleChannels = new Set([ + 'x', + 'xx', + 'width', + 'y', + 'yy', + 'height', + 'fill', + 'stroke', + 'area', + 'shape', +]); + +export const validScales = new Set([ + 'x', + 'y', + 'fill', + 'stroke', + 'area', + 'shape', +]); + diff --git a/packages/ui/src/components/Plot/util/scaleValue.js b/packages/ui/src/components/Plot/util/scaleValue.js new file mode 100644 index 000000000..ae48ed575 --- /dev/null +++ b/packages/ui/src/components/Plot/util/scaleValue.js @@ -0,0 +1,23 @@ +import { scaleChannels } from "./scaleChannels"; + +export function scaleValue({ input, channel, scales, mapX, mapY }) { + if (!scaleChannels.has(channel)) { + return input; + } + if (channel === 'x' || channel === 'xx' || channel === 'width') { + if (!scales.x) { + throw Error('missing x scale'); + } + return mapX(input); + } else if (channel === 'y' || channel === 'yy' || channel === 'height') { + if (!scales.y) { + throw Error('missing y scale'); + } + return mapY(input); + } else { + if (!scales[channel]) { + throw Error(`missing ${channel} scale`); + } + return scales[channel](input); + } +} \ No newline at end of file diff --git a/packages/ui/src/index.tsx b/packages/ui/src/index.tsx index 310d83585..e186af75e 100644 --- a/packages/ui/src/index.tsx +++ b/packages/ui/src/index.tsx @@ -48,6 +48,7 @@ export * from "./contexts/ConfigurationProvider"; export * as summaryUtils from "./components/Summary/utils"; export * from "./components/Section"; +export * from "./components/Plot"; export * from "./components/ProfileHeader"; export * from "./components/DownloadSvgPlot"; diff --git a/yarn.lock b/yarn.lock index ac9576159..cde279ecb 100644 --- a/yarn.lock +++ b/yarn.lock @@ -6494,7 +6494,7 @@ d3-array@2, d3-array@^2.3.0, d3-array@^2.8.0: dependencies: internmap "^1.0.0" -"d3-array@2 - 3", "d3-array@2.10.0 - 3", "d3-array@2.5.0 - 3", d3-array@3, d3-array@^3.2.0: +"d3-array@2 - 3", "d3-array@2.10.0 - 3", "d3-array@2.5.0 - 3", d3-array@3, d3-array@^3.2.0, d3-array@^3.2.4: version "3.2.4" resolved "https://registry.yarnpkg.com/d3-array/-/d3-array-3.2.4.tgz#15fec33b237f97ac5d7c986dc77da273a8ed0bb5" integrity sha512-tdQAmyA18i4J7wprpYq8ClcxZy3SC31QMeByyCFyRt7BVHdREQZ5lpzoe5mFEYZUWe+oq8HBvk9JjpibyEV4Jg== From 915455cf1c8e6049e9c37a623f61b8d50094c35c Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Wed, 13 Nov 2024 16:24:59 +0000 Subject: [PATCH 027/120] [Platform]: nested columns (#532) --- .../OtTable/OtTableColumnVisibility.tsx | 14 ++++++----- .../src/components/OtTable/otTableLayout.tsx | 2 +- .../ui/src/components/OtTable/tableUtil.ts | 23 ++++++++++++++++++- 3 files changed, 31 insertions(+), 8 deletions(-) diff --git a/packages/ui/src/components/OtTable/OtTableColumnVisibility.tsx b/packages/ui/src/components/OtTable/OtTableColumnVisibility.tsx index ac296a820..19b0ba9b5 100644 --- a/packages/ui/src/components/OtTable/OtTableColumnVisibility.tsx +++ b/packages/ui/src/components/OtTable/OtTableColumnVisibility.tsx @@ -29,17 +29,19 @@ function OtTableColumnVisibility({ table }: OtTableColumnVisibilityProps): React setAnchorEl(null); } - function isLastColumnActive(column): boolean { - return table.getVisibleLeafColumns().length === 1 && column.getIsVisible(); + function isColumnDisable(column): boolean { + return ( + !column.getCanHide() || (table.getVisibleLeafColumns().length === 1 && column.getIsVisible()) + ); } - function isColumnVisibilityStateChanged(): boolean { - return table.getVisibleLeafColumns().length !== table.getAllColumns().length; + function getIsAllColumnsVisible(): boolean { + return table.getIsAllColumnsVisible(); } return ( <> - + @@ -60,7 +62,7 @@ function OtTableColumnVisibility({ table }: OtTableColumnVisibilityProps): React checked={column.getIsVisible()} /> } - disabled={isLastColumnActive(column)} + disabled={isColumnDisable(column)} label={column.columnDef.header || column.id} /> diff --git a/packages/ui/src/components/OtTable/otTableLayout.tsx b/packages/ui/src/components/OtTable/otTableLayout.tsx index 13bbeec33..caf740164 100644 --- a/packages/ui/src/components/OtTable/otTableLayout.tsx +++ b/packages/ui/src/components/OtTable/otTableLayout.tsx @@ -102,9 +102,9 @@ export const OtTableCellContainer = styled(Box, { theme.unstable_sx({ typography: "body2", ...(numeric && { + fontVariantNumeric: "tabular-nums", display: "flex", justifyContent: "flex-end", - typography: "monoText", pr: 2, }), }) diff --git a/packages/ui/src/components/OtTable/tableUtil.ts b/packages/ui/src/components/OtTable/tableUtil.ts index ca552c7df..c5bc58e6e 100644 --- a/packages/ui/src/components/OtTable/tableUtil.ts +++ b/packages/ui/src/components/OtTable/tableUtil.ts @@ -2,11 +2,22 @@ import { DefaultSortProp, loadingTableRows } from "./table.types"; /********************************************************************* * FN TO CONVERT CLASSIC MUI TABLE COLUMNS TO TANSTACK TABLE COLUMNS * + * RECURSIVE FN TO CHECK IF COLUMNS ARE NESTED *********************************************************************/ export function mapTableColumnToTanstackColumns( allColumns: Record[] ): Record[] { - return allColumns.map(column => mapToTanstackColumnObject(column)); + const arr: Record[] = []; + allColumns.forEach(e => { + if (isNestedColumns(e)) { + const headerObj = { + header: e.header, + columns: mapTableColumnToTanstackColumns(e.columns), + }; + arr.push(headerObj); + } else arr.push(mapToTanstackColumnObject(e)); + }); + return arr; } /****************************************************** @@ -102,6 +113,16 @@ export function getLoadingRows(columns, size = 10): loadingTableRows[] { return new Array(size).fill(rowObject); } +/*********************************** + * CHECK IF THE COLUMNS ARE NESTED * + * @param: + * column: object + * @return: boolean + ***********************************/ +function isNestedColumns(column: Record): boolean { + return Object.hasOwn(column, "columns"); +} + /**************************************************************************** * FN TO MAP EACH KEY FROM CLASSIC MUI COLUMN OBJECT TO NEW TANSTACK COLUMN * ****************************************************************************/ From 0c206badcc751592b512b2cbf900d547a1a6d773 Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Thu, 14 Nov 2024 13:19:16 +0000 Subject: [PATCH 028/120] [Platform]: locus to gene section (#533) --- .../src/pages/CredibleSetPage/Profile.tsx | 33 ++++----- .../src/credibleSet/Locus2Gene/Body.tsx | 74 +++++++++++++++++++ .../credibleSet/Locus2Gene/Description.tsx | 13 ++++ .../Locus2Gene/Locus2GeneQuery.gql | 11 +++ .../Locus2Gene/Locus2GeneQueryFragment.gql | 5 ++ .../src/credibleSet/Locus2Gene/Summary.tsx | 17 +++++ .../src/credibleSet/Locus2Gene/index.ts | 7 ++ 7 files changed, 140 insertions(+), 20 deletions(-) create mode 100644 packages/sections/src/credibleSet/Locus2Gene/Body.tsx create mode 100644 packages/sections/src/credibleSet/Locus2Gene/Description.tsx create mode 100644 packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQuery.gql create mode 100644 packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQueryFragment.gql create mode 100644 packages/sections/src/credibleSet/Locus2Gene/Summary.tsx create mode 100644 packages/sections/src/credibleSet/Locus2Gene/index.ts diff --git a/apps/platform/src/pages/CredibleSetPage/Profile.tsx b/apps/platform/src/pages/CredibleSetPage/Profile.tsx index e55ca3f8b..8c551477b 100644 --- a/apps/platform/src/pages/CredibleSetPage/Profile.tsx +++ b/apps/platform/src/pages/CredibleSetPage/Profile.tsx @@ -10,20 +10,16 @@ import { import VariantsSummary from "sections/src/credibleSet/Variants/Summary"; import GWASColocSummary from "sections/src/credibleSet/GWASColoc/Summary"; +import Locus2GeneSummary from "sections/src/credibleSet/Locus2Gene/Summary"; import client from "../../client"; import ProfileHeader from "./ProfileHeader"; -const VariantsSection = lazy( - () => import("sections/src/credibleSet/Variants/Body") -); -const GWASColocSection = lazy( - () => import("sections/src/credibleSet/GWASColoc/Body") -); +const VariantsSection = lazy(() => import("sections/src/credibleSet/Variants/Body")); +const GWASColocSection = lazy(() => import("sections/src/credibleSet/GWASColoc/Body")); -const summaries = [ - VariantsSummary, - GWASColocSummary, -]; +const Locus2GeneSection = lazy(() => import("sections/src/credibleSet/Locus2Gene/Body")); + +const summaries = [VariantsSummary, GWASColocSummary, Locus2GeneSummary]; const CREDIBLE_SET = "credibleSets"; const CREDIBLE_SET_PROFILE_SUMMARY_FRAGMENT = summaryUtils.createSummaryFragment( @@ -50,13 +46,7 @@ type ProfileProps = { alternateAllele: string; }; -function Profile({ - studyLocusId, - variantId, - referenceAllele, - alternateAllele, - }: ProfileProps) { - +function Profile({ studyLocusId, variantId, referenceAllele, alternateAllele }: ProfileProps) { return ( - - + + + @@ -84,10 +75,12 @@ function Profile({ }> + }> + + ); - } export default Profile; diff --git a/packages/sections/src/credibleSet/Locus2Gene/Body.tsx b/packages/sections/src/credibleSet/Locus2Gene/Body.tsx new file mode 100644 index 000000000..cedfdb0d4 --- /dev/null +++ b/packages/sections/src/credibleSet/Locus2Gene/Body.tsx @@ -0,0 +1,74 @@ +import { ReactNode } from "react"; +import { Link, OtScoreLinearBar, OtTable, SectionItem } from "ui"; +import { useQuery } from "@apollo/client"; + +import { definition } from "."; +import Description from "./Description"; +import { naLabel } from "../../constants"; +import LOCUS2GENE_QUERY from "./Locus2GeneQuery.gql"; +import { Tooltip } from "@mui/material"; + +type BodyProps = { + studyLocusId: string; + entity: string; +}; + +const columns = [ + { + id: "gene", + label: "Gene", + renderCell: ({ target }) => { + if (!target) return naLabel; + return {target?.approvedSymbol}; + }, + }, + { + id: "score", + label: "L2G score", + sortable: true, + tooltip: + "Overall evidence linking a gene to this credible set using all features. Score range [0,1]", + renderCell: ({ score }) => { + if (!score) return naLabel; + return ( + + + + ); + }, + }, +]; + +function Body({ studyLocusId, entity }: BodyProps): ReactNode { + const variables = { + studyLocusIds: [studyLocusId], + }; + + const request = useQuery(LOCUS2GENE_QUERY, { + variables, + }); + + return ( + } + renderBody={() => { + return ( + + ); + }} + /> + ); +} +export default Body; diff --git a/packages/sections/src/credibleSet/Locus2Gene/Description.tsx b/packages/sections/src/credibleSet/Locus2Gene/Description.tsx new file mode 100644 index 000000000..f31aed91f --- /dev/null +++ b/packages/sections/src/credibleSet/Locus2Gene/Description.tsx @@ -0,0 +1,13 @@ +import { ReactElement } from "react"; +import { Link } from "ui"; + +function Description(): ReactElement { + return ( + <> + Genes prioritised by the L2G pipelines within this credible set. Source:{" "} + Open Targets + + ); +} + +export default Description; diff --git a/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQuery.gql b/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQuery.gql new file mode 100644 index 000000000..ea6223c3d --- /dev/null +++ b/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQuery.gql @@ -0,0 +1,11 @@ +query Locus2GeneQuery($studyLocusIds: [String!]!) { + credibleSets(studyLocusIds: $studyLocusIds) { + l2Gpredictions { + target { + id + approvedSymbol + } + score + } + } +} diff --git a/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQueryFragment.gql b/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQueryFragment.gql new file mode 100644 index 000000000..caa73e23d --- /dev/null +++ b/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQueryFragment.gql @@ -0,0 +1,5 @@ +fragment Locus2GeneQueryFragment on credibleSet { + l2Gpredictions { + score + } +} diff --git a/packages/sections/src/credibleSet/Locus2Gene/Summary.tsx b/packages/sections/src/credibleSet/Locus2Gene/Summary.tsx new file mode 100644 index 000000000..e9e78c6f3 --- /dev/null +++ b/packages/sections/src/credibleSet/Locus2Gene/Summary.tsx @@ -0,0 +1,17 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import LOCUS2GENE_SUMMARY from "./Locus2GeneQueryFragment.gql"; +import { ReactNode } from "react"; + +function Summary(): ReactNode { + const request = usePlatformApi(LOCUS2GENE_SUMMARY); + + return ; +} + +Summary.fragments = { + Locus2GeneQueryFragment: LOCUS2GENE_SUMMARY, +}; + +export default Summary; diff --git a/packages/sections/src/credibleSet/Locus2Gene/index.ts b/packages/sections/src/credibleSet/Locus2Gene/index.ts new file mode 100644 index 000000000..4862808a5 --- /dev/null +++ b/packages/sections/src/credibleSet/Locus2Gene/index.ts @@ -0,0 +1,7 @@ +const id = "locus2gene"; +export const definition = { + id, + name: "Locus to Gene", + shortName: "LG", + hasData: data => data[0]?.l2Gpredictions.length > 0, +}; From c7a3282360d8752245d14849db20688579042261 Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Thu, 14 Nov 2024 13:20:00 +0000 Subject: [PATCH 029/120] [Platform]: table/section fix (#525) --------- Co-authored-by: Carlos Cruz --- .../src/pages/VariantPage/ProfileHeader.tsx | 127 +++++++++--------- .../pages/VariantPage/ProfileHeaderLoader.tsx | 12 ++ .../variant/VariantEffectPredictor/Body.tsx | 5 +- .../ui/src/components/OtTable/OtTable.tsx | 24 ++-- .../ui/src/components/OtTable/table.types.ts | 3 +- .../ui/src/components/Section/SectionItem.tsx | 25 ++-- 6 files changed, 100 insertions(+), 96 deletions(-) create mode 100644 apps/platform/src/pages/VariantPage/ProfileHeaderLoader.tsx diff --git a/apps/platform/src/pages/VariantPage/ProfileHeader.tsx b/apps/platform/src/pages/VariantPage/ProfileHeader.tsx index c2feb76fa..628801f29 100644 --- a/apps/platform/src/pages/VariantPage/ProfileHeader.tsx +++ b/apps/platform/src/pages/VariantPage/ProfileHeader.tsx @@ -1,62 +1,57 @@ // import { useState, useEffect } from "react"; -import { - usePlatformApi, - Field, - ProfileHeader as BaseProfileHeader, - Link, - LongText, -} from "ui"; +import { usePlatformApi, Field, ProfileHeader as BaseProfileHeader, Link, LongText } from "ui"; import { Box, Typography, Skeleton } from "@mui/material"; import { identifiersOrgLink } from "../../utils/global"; import VARIANT_PROFILE_HEADER_FRAGMENT from "./ProfileHeader.gql"; - +import ProfileHeaderLoader from "./ProfileHeaderLoader"; function ProfileHeader() { - const { loading, error, data } = usePlatformApi(); // TODO: Errors! if (error) return null; + if (loading) return ; + return ( - - Location + + Location + {data?.variant.chromosome}:{data?.variant.position} - + - Variant Effect Predictor (VEP) + + Variant Effect Predictor (VEP) + - {data?.variant.mostSevereConsequence.label.replace(/_/g, ' ')} + {data?.variant.mostSevereConsequence.label.replace(/_/g, " ")} - {data?.variant.alleleFrequencies.length > 0 && + {data?.variant.alleleFrequencies.length > 0 && ( - Population Allele Frequencies + + Population Allele Frequencies + - } - + )} - ) + ); } ProfileHeader.fragments = { @@ -65,7 +60,6 @@ ProfileHeader.fragments = { export default ProfileHeader; - // ====== // allele // ====== @@ -77,25 +71,20 @@ type AlleleProps = { }; function Allele({ loading, label, value }: AlleleProps) { - - if (loading) return ; - - return value?.length >= 15 - ? <> - {label} - - - {value} - - - - : - {value} - - + return value?.length >= 15 ? ( + <> + {label} + + {value} + + + ) : ( + + {value} + + ); } - // ===================== // allele frequency plot // ===================== @@ -107,37 +96,39 @@ const populationLabels = { eas_adj: "East Asian", fin_adj: "Finnish", nfe_adj: "Non-Finnish European", - ami_adj: "Amish", // from https://www.pharmgkb.org/variant/PA166175994 - mid_adj: "Middle Eastern", // guessed from: https://gnomad.broadinstitute.org/variant/1-154453788-C-T?dataset=gnomad_r4 - sas_adj: "South Asian", // from https://www.pharmgkb.org/variant/PA166175994 - remaining_adj: 'Other', + ami_adj: "Amish", // from https://www.pharmgkb.org/variant/PA166175994 + mid_adj: "Middle Eastern", // guessed from: https://gnomad.broadinstitute.org/variant/1-154453788-C-T?dataset=gnomad_r4 + sas_adj: "South Asian", // from https://www.pharmgkb.org/variant/PA166175994 + remaining_adj: "Other", }; - function AlleleFrequencyPlot({ data }) { - let orderOfMag = -2; for (const { alleleFrequency } of data) { if (alleleFrequency > 0 && alleleFrequency < 1) { - orderOfMag = Math.min( - orderOfMag, - Math.floor(Math.log10(alleleFrequency)) - ) + orderOfMag = Math.min(orderOfMag, Math.floor(Math.log10(alleleFrequency))); } } const dps = Math.min(6, -orderOfMag + 1); // sort rows alphabetically on population label - but put "other" last - const rows = data.map(({ populationName, alleleFrequency }) => ({ - label: populationLabels[populationName], - alleleFrequency, - })).sort((a, b) => a.label < b.label ? -1 : 1); - rows.push(rows.splice(rows.findIndex(r => r.label === 'Other'), 1)[0]); + const rows = data + .map(({ populationName, alleleFrequency }) => ({ + label: populationLabels[populationName], + alleleFrequency, + })) + .sort((a, b) => (a.label < b.label ? -1 : 1)); + rows.push( + rows.splice( + rows.findIndex(r => r.label === "Other"), + 1 + )[0] + ); - return( + return ( {rows.map(row => ( - + ))} ); @@ -148,13 +139,15 @@ function BarGroup({ dataRow: { label, alleleFrequency }, dps }) { {label} - - theme.palette.grey[300], - height: "9px" - }}> + + theme.palette.grey[300], + height: "9px", + }} + > - { alleleFrequency === 0 ? 0 : alleleFrequency.toFixed(dps) } + {alleleFrequency === 0 ? 0 : alleleFrequency.toFixed(dps)} ); -} \ No newline at end of file +} diff --git a/apps/platform/src/pages/VariantPage/ProfileHeaderLoader.tsx b/apps/platform/src/pages/VariantPage/ProfileHeaderLoader.tsx new file mode 100644 index 000000000..6668e9e82 --- /dev/null +++ b/apps/platform/src/pages/VariantPage/ProfileHeaderLoader.tsx @@ -0,0 +1,12 @@ +import { Box, Skeleton } from "@mui/material"; +import { ReactElement } from "react"; + +function ProfileHeaderLoader(): ReactElement { + return ( + + + + + ); +} +export default ProfileHeaderLoader; diff --git a/packages/sections/src/variant/VariantEffectPredictor/Body.tsx b/packages/sections/src/variant/VariantEffectPredictor/Body.tsx index d4d686d0d..97cc18dca 100644 --- a/packages/sections/src/variant/VariantEffectPredictor/Body.tsx +++ b/packages/sections/src/variant/VariantEffectPredictor/Body.tsx @@ -181,8 +181,9 @@ export function Body({ id, entity }: BodyProps) { /> )} renderBody={() => { - const sortedRows = [...request.data?.variant.transcriptConsequences]; - sortedRows.sort((a, b) => a.transcriptIndex - b.transcriptIndex); + let sortedRows = []; + sortedRows = structuredClone(request.data?.variant.transcriptConsequences); + sortedRows?.sort((a, b) => a.transcriptIndex - b.transcriptIndex); return ( = (row, columnId, value, addMeta) => { function OtTable({ showGlobalFilter = true, - tableDataLoading = false, columns = [], rows = [], verticalHeaders = false, @@ -97,10 +96,10 @@ function OtTable({ const [columnFilters, setColumnFilters] = useState([]); const mappedColumns = mapTableColumnToTanstackColumns(columns); - // const loadingRows = getLoadingRows(mappedColumns, 10); + const data = loading ? getLoadingRows(mappedColumns, 10) : rows; const table = useReactTable({ - data: rows, + data, columns: mappedColumns, filterFns: { searchFilterFn: searchFilter, @@ -123,6 +122,11 @@ function OtTable({ getFacetedUniqueValues: getFacetedUniqueValues(), }); + function getCellData(cell: Record): ReactNode { + if (loading) return ; + return <>{flexRender(cell.column.columnDef.cell, cell.getContext())}; + } + return (
{/* Global Search */} @@ -208,11 +212,8 @@ function OtTable({ return ( - {table.getState().loading ? ( - - ) : ( - <>{flexRender(cell.column.columnDef.cell, cell.getContext())} - )} + {getCellData(cell)} + {/* {flexRender(cell.column.columnDef.cell, cell.getContext())} */} {/* TODO: check NA value */} {/* {Boolean(flexRender(cell.column.columnDef.cell, cell.getContext())) || naLabel} */} @@ -241,7 +242,6 @@ function OtTable({ padding: theme => `${theme.spacing(2)} 0 `, }} > - {tableDataLoading && theme.spacing(2) }} size={25} />}
Rows per page: >; rows: Array>; verticalHeaders: boolean; @@ -33,7 +32,7 @@ export type OtTableProps = { }; export type loadingTableRows = { - id: string; + id: string | null; }; /************************* diff --git a/packages/ui/src/components/Section/SectionItem.tsx b/packages/ui/src/components/Section/SectionItem.tsx index e1193d034..368b83094 100644 --- a/packages/ui/src/components/Section/SectionItem.tsx +++ b/packages/ui/src/components/Section/SectionItem.tsx @@ -40,6 +40,7 @@ function SectionItem({ request, renderDescription, renderBody, + tags, chipText, entity, showEmptySection = false, @@ -59,6 +60,16 @@ function SectionItem({ if (!hasData && !showEmptySection && !loading) return null; + function getSelectedView(): ReactNode { + if (error) return ; + if (showContentLoading && loading) + return ; + if (selectedView === VIEW.table) return renderBody(); + if (selectedView === VIEW.chart) return renderChart(); + // if (!loading && !hasData && showEmptySection) + return
No data available for this {entity}.
; + } + return (
@@ -106,19 +117,7 @@ function SectionItem({ - - <> - {error && } - {showContentLoading && loading && ( - - )} - {hasData && selectedView === VIEW.table && renderBody()} - {hasData && selectedView === VIEW.chart && renderChart()} - {showEmptySection && ( -
No data available for this {entity}.
- )} - -
+ {getSelectedView()} From 1fcbe9e38687f233893c848a7832adc37e549c8f Mon Sep 17 00:00:00 2001 From: Graham McNeill Date: Fri, 15 Nov 2024 15:26:40 +0000 Subject: [PATCH 030/120] [Platform]: Add tooltip to Manhattan plot on study page (#536) --- .../src/study/GWASCredibleSets/Body.tsx | 175 +--------- .../study/GWASCredibleSets/ManhattanPlot.tsx | 299 ++++++++++++++++++ .../ui/src/components/Plot/ManhattanPlot.jsx | 247 --------------- packages/ui/src/components/Plot/README.md | 84 +---- packages/ui/src/components/Plot/TestPlot.jsx | 47 --- .../src/components/Plot/components/Plot.jsx | 68 ++-- .../components/Plot/components/marks/Rect.jsx | 62 ++++ .../Plot/components/marks/SelectionMark.jsx | 10 +- .../Plot/components/marks/StandardMark.jsx | 24 +- .../components/Plot/contexts/VisContext.jsx | 20 +- .../Plot/defaults/channelDefaults.js | 22 +- packages/ui/src/components/Plot/index.js | 1 + 12 files changed, 450 insertions(+), 609 deletions(-) create mode 100644 packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx delete mode 100644 packages/ui/src/components/Plot/ManhattanPlot.jsx delete mode 100644 packages/ui/src/components/Plot/TestPlot.jsx create mode 100644 packages/ui/src/components/Plot/components/marks/Rect.jsx diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx index 4038cf1ea..fcefa8962 100644 --- a/packages/sections/src/study/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -1,31 +1,17 @@ import { useQuery } from "@apollo/client"; -import { Skeleton, useTheme } from "@mui/material"; import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable, - Plot, - Vis, - XAxis, - YAxis, - XTick, - YTick, - XLabel, - YLabel, - XTitle, - XGrid, - Circle, - Segment, - HTML, } from "ui"; import { naLabel } from "../../constants"; import { definition } from "."; import Description from "./Description"; import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; -import { scaleLinear, scaleLog, min } from "d3"; +import ManhattanPlot from "./ManhattanPlot"; const columns = [ { @@ -173,162 +159,3 @@ function Body({ id, entity }: BodyProps) { } export default Body; - - -// ============================================================================= - -// ========== Manhattan plot ========== - -function pValue(row) { - return row.pValueMantissa * 10 ** row.pValueExponent; -} - -function ManhattanPlot({ loading, data }) { - - const plotHeight = 370; - const theme = useTheme(); - const background = theme.palette.background.paper; - const markColor = theme.palette.primary.main; - const fontFamily = theme.typography.fontFamily; - const circleArea = 24; - - if (loading) return ; - if (data == null) return null; - - const pValueMin = min(data, pValue); - const pValueMax = 1; - - const genomePositions = {}; - data.forEach(({ variant }) => { - genomePositions[variant.id] = cumulativePosition(variant); - }); - - return ( - - - [0, ...tickData.map(chromo => chromo.end)]} - tickLength={15} - /> - - tickData.map(chromo => chromo.midpoint)} - format={(_, i, __, tickData) => tickData[i].chromosome} - padding={5} - /> - tickData.map(chromo => chromo.end)} - stroke="#cecece" - strokeDasharray="3 4" - /> - - -log - 10 - (pValue) - - - - - -Math.log10(v)} /> - genomePositions[d.variant.id]} - xx={d => genomePositions[d.variant.id]} - y={pValue} - yy={pValueMax} - stroke={markColor} - strokeWidth={1} - strokeOpacity={0.7} - hover - /> - genomePositions[d.variant.id]} - y={pValue} - fill={background} - stroke={markColor} - strokeWidth={1.2} - area={circleArea} - hover - /> - - {/* TOOLTIP TEST */} - genomePositions[d.variant.id]} - y={pValue} - pxWidth={140} - pxHeight={50} - content={d => ( -
- HTML tooltip -
{d.variant.id}
-
- )} - // anchor="top-right" - dx={8} - dy = {-8} - /> -
-
- ); -} - - -// ========== chromosome lengths ========== - -// from: https://www.ncbi.nlm.nih.gov/grc/human/data -// (first tab: "Chromosome lengths") -const chromosomeInfo = [ - { chromosome: '1', length: 248956422 }, - { chromosome: '2', length: 242193529 }, - { chromosome: '3', length: 198295559 }, - { chromosome: '4', length: 190214555 }, - { chromosome: '5', length: 181538259 }, - { chromosome: '6', length: 170805979 }, - { chromosome: '7', length: 159345973 }, - { chromosome: '8', length: 145138636 }, - { chromosome: '9', length: 138394717 }, - { chromosome: '10', length: 133797422 }, - { chromosome: '11', length: 135086622 }, - { chromosome: '12', length: 133275309 }, - { chromosome: '13', length: 114364328 }, - { chromosome: '14', length: 107043718 }, - { chromosome: '15', length: 101991189 }, - { chromosome: '16', length: 90338345 }, - { chromosome: '17', length: 83257441 }, - { chromosome: '18', length: 80373285 }, - { chromosome: '19', length: 58617616 }, - { chromosome: '20', length: 64444167 }, - { chromosome: '21', length: 46709983 }, - { chromosome: '22', length: 50818468 }, - { chromosome: 'X', length: 156040895 }, - { chromosome: 'Y', length: 57227415 }, -]; - -chromosomeInfo.forEach((chromo, i) => { - chromo.start = chromosomeInfo[i-1]?.end ?? 0; - chromo.end = chromo.start + chromo.length; - chromo.midpoint = (chromo.start + chromo.end) / 2; -}); - -const genomeLength = chromosomeInfo.at(-1).end; - -const chromosomeInfoMap = new Map( - chromosomeInfo.map(obj => [ obj.chromosome, obj ]) -); - -function cumulativePosition({ chromosome, position }) { - return chromosomeInfoMap.get(chromosome).start + position; -} - diff --git a/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx new file mode 100644 index 000000000..ac4324f9e --- /dev/null +++ b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx @@ -0,0 +1,299 @@ +import { Box, Skeleton, Typography, useTheme } from "@mui/material"; +import { + Link, + DisplayVariantId, + Plot, + Vis, + XAxis, + YAxis, + XTick, + YTick, + XLabel, + YLabel, + XTitle, + XGrid, + Circle, + Segment, + Rect, + HTML, +} from "ui"; +import { scaleLinear, scaleLog, min } from "d3"; +import { ScientificNotation } from "ui"; +import { naLabel } from "../../constants"; + +export default function ManhattanPlot({ loading, data }) { + + const plotHeight = 390; + const theme = useTheme(); + const background = theme.palette.background.paper; + const markColor = theme.palette.primary.main; + const fontFamily = theme.typography.fontFamily; + const circleArea = 32; + + if (loading) return ; + if (data == null) return null; + + // eslint-disable-next-line + data = data.filter(d => { + return d.pValueMantissa != null && + d.pValueExponent != null && + d.variant != null; + }); + if (data.length === 0) return null; + + const pValueMin = min(data, pValue); + const pValueMax = 1; + + const genomePositions = {}; + data.forEach(({ variant }) => { + genomePositions[variant.id] = cumulativePosition(variant); + }); + + function xAnchor(row) { + const x = genomePositions[row.variant.id]; + return x < genomeLength / 2 ? 'left' : 'right'; + } + + function yAnchor(row) { + const y = pValue(row); + return Math.log10(y) > Math.log10(pValueMin) / 2 ? 'bottom' : 'top'; + } + + return ( + + + + + [0, ...tickData.map(chromo => chromo.end)]} + tickLength={15} + /> + tickData.map(chromo => chromo.midpoint)} + format={(_, i, __, tickData) => tickData[i].chromosome} + padding={5} + /> + tickData.map(chromo => chromo.end)} + stroke="#cecece" + strokeDasharray="3 4" + /> + + -log + 10 + (pValue) + + + + -Math.log10(v)} /> + + genomePositions[d.variant.id]} + xx={d => genomePositions[d.variant.id]} + y={pValue} + yy={pValueMax} + stroke={markColor} + strokeWidth={1} + strokeOpacity={0.7} + hover="stay" + /> + genomePositions[d.variant.id]} + y={pValue} + fill={background} + stroke={markColor} + strokeWidth={1.2} + area={circleArea} + hover="stay" + /> + + {/* on hover */} + + genomePositions[d.variant.id]} + xx={d => genomePositions[d.variant.id]} + y={pValue} + yy={pValueMax} + stroke={markColor} + strokeWidth={1.7} + strokeOpacity={1} + /> + genomePositions[d.variant.id]} + y={pValue} + fill={markColor} + area={circleArea} + /> + genomePositions[d.variant.id]} + y={pValue} + pxWidth={290} + pxHeight={200} + content={d => } + anchor={d => `${yAnchor(d)}-${xAnchor(d)}`} + pointerEvents="visiblePainted" + dx={d => xAnchor(d) === 'left' ? 10 : -10} + dy={d => yAnchor(d) === 'top' ? 10 : -10} + /> + + {/* axes at end so fade rectangle doesn't cover them */} + + + + + + ); + +} + +function Tooltip({ data }) { + return ( +
+
+ + + view + + + + + + + + + + + {data.beta?.toFixed(3) ?? naLabel} + + + {data.finemappingMethod ?? naLabel} + + {data.l2Gpredictions?.[0].target + ? + + {data.l2Gpredictions?.[0].target.approvedSymbol} + + + : + {naLabel} + + } + + {data.l2Gpredictions?.[0].score.toFixed(3)} + + + {data.locus?.length ?? naLabel} + + +
+
+ ); +} + +function TooltipRow({ children, label }) { + return ( + + + + {label}: + + + + + {children} + + + + ); +} + +function pValue(row) { + return row.pValueMantissa * 10 ** row.pValueExponent; +} + +// from: https://www.ncbi.nlm.nih.gov/grc/human/data +// (first tab: "Chromosome lengths") +const chromosomeInfo = [ + { chromosome: '1', length: 248956422 }, + { chromosome: '2', length: 242193529 }, + { chromosome: '3', length: 198295559 }, + { chromosome: '4', length: 190214555 }, + { chromosome: '5', length: 181538259 }, + { chromosome: '6', length: 170805979 }, + { chromosome: '7', length: 159345973 }, + { chromosome: '8', length: 145138636 }, + { chromosome: '9', length: 138394717 }, + { chromosome: '10', length: 133797422 }, + { chromosome: '11', length: 135086622 }, + { chromosome: '12', length: 133275309 }, + { chromosome: '13', length: 114364328 }, + { chromosome: '14', length: 107043718 }, + { chromosome: '15', length: 101991189 }, + { chromosome: '16', length: 90338345 }, + { chromosome: '17', length: 83257441 }, + { chromosome: '18', length: 80373285 }, + { chromosome: '19', length: 58617616 }, + { chromosome: '20', length: 64444167 }, + { chromosome: '21', length: 46709983 }, + { chromosome: '22', length: 50818468 }, + { chromosome: 'X', length: 156040895 }, + { chromosome: 'Y', length: 57227415 }, +]; + +chromosomeInfo.forEach((chromo, i) => { + chromo.start = chromosomeInfo[i-1]?.end ?? 0; + chromo.end = chromo.start + chromo.length; + chromo.midpoint = (chromo.start + chromo.end) / 2; +}); + +const genomeLength = chromosomeInfo.at(-1).end; + +const chromosomeInfoMap = new Map( + chromosomeInfo.map(obj => [ obj.chromosome, obj ]) +); + +function cumulativePosition({ chromosome, position }) { + return chromosomeInfoMap.get(chromosome).start + position; +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/ManhattanPlot.jsx b/packages/ui/src/components/Plot/ManhattanPlot.jsx deleted file mode 100644 index f230acf9c..000000000 --- a/packages/ui/src/components/Plot/ManhattanPlot.jsx +++ /dev/null @@ -1,247 +0,0 @@ - -import { - Plot, - XAxis, - YAxis, - XTick, - YTick, - XLabel, - YLabel, - XTitle, - XGrid, - YGrid, - Circle, - Segment, -} from '.'; - -import * as d3 from "../../../../../node_modules/d3"; - - -// ========== chromosome lengths ========== - -// from: https://www.ncbi.nlm.nih.gov/grc/human/data -// (first tab: "Chromosome lengths") -const chromosomeInfo = [ - { chromosome: '1', length: 248956422 }, - { chromosome: '2', length: 242193529 }, - { chromosome: '3', length: 198295559 }, - { chromosome: '4', length: 190214555 }, - { chromosome: '5', length: 181538259 }, - { chromosome: '6', length: 170805979 }, - { chromosome: '7', length: 159345973 }, - { chromosome: '8', length: 145138636 }, - { chromosome: '9', length: 138394717 }, - { chromosome: '10', length: 133797422 }, - { chromosome: '11', length: 135086622 }, - { chromosome: '12', length: 133275309 }, - { chromosome: '13', length: 114364328 }, - { chromosome: '14', length: 107043718 }, - { chromosome: '15', length: 101991189 }, - { chromosome: '16', length: 90338345 }, - { chromosome: '17', length: 83257441 }, - { chromosome: '18', length: 80373285 }, - { chromosome: '19', length: 58617616 }, - { chromosome: '20', length: 64444167 }, - { chromosome: '21', length: 46709983 }, - { chromosome: '22', length: 50818468 }, - { chromosome: 'X', length: 156040895 }, - { chromosome: 'Y', length: 57227415 }, -]; - -const cumulativeLengths = [...d3.cumsum(chromosomeInfo, d => d.length)]; - -const genomeLength = cumulativeLengths.at(-1); -cumulativeLengths.forEach((c, i) => { - const start = cumulativeLengths[i - 1] ?? 0; - chromosomeInfo[i].start = start; - chromosomeInfo[i].midpoint = (start + c) / 2; -}); - - -// ========== credible set data ========== - -// downloaded data from GWAS credible set widget on study page -// - https://genetics--ot-platform.netlify.app/study/FINNGEN_R11_G6_MYONEU -// - from genetics netlify preview, 5/11/24 -// - manually changed 'x10' scientific strings to numbers with 'e' notation -const credibleSets = [ - { - "leadVariant": "2_176833368_G_C", - "pValue": 9.812999725341797e-29, - "beta": 1.78142, - "finemappingMethod": "SuSie", - "credibleSetSize": 1 - }, - { - "leadVariant": "2_182725396_C_G", - "pValue": 2.0209999084472656e-15, - "beta": 1.88092, - "finemappingMethod": "SuSie", - "credibleSetSize": 1 - }, - { - "leadVariant": "2_178527202_G_T", - "pValue": 9.468999862670898e-43, - "beta": 2.50628, - "finemappingMethod": "SuSie", - "credibleSetSize": 2 - }, - { - "leadVariant": "3_133502828_C_T", - "pValue": 3.1429998874664307e-26, - "beta": 2.39005, - "finemappingMethod": "SuSie", - "credibleSetSize": 2 - }, - { - "leadVariant": "2_69971691_C_T", - "pValue": 1.934999942779541e-11, - "beta": 2.70286, - "finemappingMethod": "SuSie", - "credibleSetSize": 3 - }, - { - "leadVariant": "3_123909270_G_T", - "pValue": 2.119999885559082e-9, - "beta": 1.42897, - "finemappingMethod": "SuSie", - "credibleSetSize": 2 - }, - { - "leadVariant": "3_129274020_G_A", - "pValue": 9.961000442504883e-39, - "beta": 1.64242, - "finemappingMethod": "SuSie", - "credibleSetSize": 7 - }, - { - "leadVariant": "3_125959818_C_G", - "pValue": 1.0149999856948853e-38, - "beta": 2.9011, - "finemappingMethod": "SuSie", - "credibleSetSize": 2 - }, - { - "leadVariant": "13_59255897_CCT_C", - "pValue": 2.700000047683716e-8, - "beta": -0.778397, - "finemappingMethod": "SuSie", - "credibleSetSize": 5 - }, - { - "leadVariant": "3_135574097_C_A", - "pValue": 7.104000091552734e-14, - "beta": 1.89334, - "finemappingMethod": "SuSie", - "credibleSetSize": 4 - }, - { - "leadVariant": "3_128084826_G_A", - "pValue": 1.277999997138977e-66, - "beta": 3.1711, - "finemappingMethod": "SuSie", - "credibleSetSize": 1 - }, - { - "leadVariant": "2_186704353_G_A", - "pValue": 8.9350004196167e-13, - "beta": 1.81246, - "finemappingMethod": "SuSie", - "credibleSetSize": 1 - }, - { - "leadVariant": "3_137766724_A_T", - "pValue": 2.318000078201294e-11, - "beta": 1.68788, - "finemappingMethod": "SuSie", - "credibleSetSize": 6 - }, - { - "leadVariant": "7_143351678_C_T", - "pValue": 1.7300000190734863e-8, - "beta": 0.420331, - "finemappingMethod": "SuSie", - "credibleSetSize": 4 - }, - { - "leadVariant": "17_63747701_G_A", - "pValue": 1.1540000438690186e-11, - "beta": 1.81591, - "finemappingMethod": "SuSie", - "credibleSetSize": 3 - } -]; - -// currently inefficient since finds correct chromosome -function cumulativePosition(id) { - const parts = id.split('_'); // not necessary in platform since can get in query - const [chromosome, position] = [parts[0], Number(parts[1])]; - return chromosomeInfo.find(elmt => elmt.chromosome === chromosome).start + position; -} -const genomePositions = {}; -credibleSets.forEach(({ leadVariant }) => { - genomePositions[leadVariant] = cumulativePosition(leadVariant); -}); - -const pValueMin = d3.min(credibleSets, d => d.pValue); -const pValueMax = 1; - - -// ========== plot ========== - -const background = '#fff'; -const markColor = '#3489ca'; - -export default function ManhattanPlot() { - return ( - - tickData.map(chromo => chromo.start)} tickLength={15}/> - - tickData.map(chromo => chromo.midpoint)} - format={(_, i, __, tickData) => tickData[i].chromosome} - padding={6} - /> - tickData.map(chromo => chromo.start)} stroke="#ccc" /> - - -log_10(pValue) - - - - -Math.log10(v)} /> - genomePositions[d.leadVariant]} - xx={d => genomePositions[d.leadVariant]} - y={d => d.pValue} - yy={pValueMax} - fill="transparent" - stroke={markColor} - strokeWidth={1} - strokeOpacity={0.7} - area={24} - /> - genomePositions[d.leadVariant]} - y={d => d.pValue} - fill={background} - fillOpacity={1} - stroke={markColor} - strokeWidth={1.2} - area={24} - /> - - ); -} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/README.md b/packages/ui/src/components/Plot/README.md index 75707b81b..abcdd16af 100644 --- a/packages/ui/src/components/Plot/README.md +++ b/packages/ui/src/components/Plot/README.md @@ -1,19 +1,5 @@ -# TO DO -- NEXT: finish and check HTML - need to complete anchor code -- scales: - - allow `scales` to be function which takes the `data` prop (or passed down data) and returns an object so that can use the data to compute the scales - - test with discrete scales -- add remaining marks: can easily add simple marks using the current `Mark`. Will need to extend `Mark` to allow for 'compound marks' such as `Line` that create a single mark from multiple rows. Can do this by adding a `compound` prop to `Mark` and branching on this where create the mark(s) -- implement `clip` prop on a mark to clip it to the panel - see https://stackoverflow.com/questions/17388689/svg-clippath-and-transformations -- have not implemented `panelSize` prop? -- if error because no `MapX` or `mapY` is it clear that missing scale is the reason? -- legend -- wrap axis, ticks, ... components in memo - so only change when their props change. They will still change when/if the contexts they use change anyway (as they should) -- import local files from index where can to clean up -- Switch to TS - --------- +__NOT COMPLETE!!__ ## Vis @@ -174,70 +160,4 @@ To draw a single mark with all constant channels, use a data set of length 1: ## Interaction -TODO: ONLY HOVER CURRENTLY -- USE HOVER PROP IN NORMAL MARKS - VALUE CAN BE OMITTED OR STRING NAME TO REFER TO GROUP -- USE DATAFROM INSTEAD OF DATA IN MARK TO SHOW ON HOVER - ------- - -Notes: -- contexts: plot and frame are standard: everything will be redrawn when change anythng, but OK since will rarely change. Vis context split into get/set so that nothing redrawn on set and only selection marks drawn on get -- left out YTitle for now since rarely use old school rotated y axis title anymore. Can use an - XTitle with position='top' and textAnchor='end' -- currently always using indices for keys - may need to revisit this when think about animation, interaction, ... -- we can pass arbitrary attr values to ticks, labels etc, but not to marks - since all 'other props' are interpreted as channels. Can/should we allow passing arb attr values through to the svg element representing the mark? -- `responsive` prop: - - currently only repsonsive for width, but easy to make responsive on height since could use same pattern as for width and the `updateSize` action used with the plot context already handles height changes - - better design would be to separate dimensions and allow `width="responsive"` and `height="responsive"` - - adds an unstyled wrapper div (except for possibly min and max widths) which may be too simple for some situations. - -Add to docs above -- padding (on axis, ticks, ...) pushes them away from panel whereas dx,dy props are always in pixels and +ve x to right, +ve y downwards -- use e.g. `stroke` to change color in `XTick` - even though there is `tickColor` in defaults, this is not a prop -- API: components and props - -POSSIBLE!!: -- shorthand for linear scales: e.g. `x={[10, 40]}` - but then need to include d3 as dependency of the plot components - not so bad since clearly require d3 somehow if require d3 scales! -- border and cornerradius for the plot? - just as have for the panel -- ? HTML inserts - for tooltip, titles, insets, ...? - - could have an HTML mark? -- specify panel size, plot size or container size -- optional HTML wrapper the size of the container. Absolute poistioned and optional z-index. Useful for titles and text in some cases -- rely heavily on accessor functions -- faceting - this will prob limit the min x and y grid squares, but we should still be able to make the grid larger to include other plots - or overlay plots -- give elements classes so easily styled? -- conveinernce components to add xAxis, ticks, labels and title altogether -- currently keep all options values for components that have contexts in the context. However, really only need the options that may be used by descendent components in the context. -- Allow the data prop of a `Vis` component to be an asynchronous function where the returned promise resolves to the data. - - important for allowing skeleton and avoiding layout shift -- transitions -- allow more props in frames? - so can e.g. override channel defaults of plot -- allow more flexibility with data structure? - e.g. column-based data? -- should `missing` be at plot and frame level rather than just mark level? -- have e.g. a `constant` prop in marks so can avoid the hacky `data={[1]}` to draw a single mark when all props are constants -- do not have same channel defaults for all marks? - annoying that need to set `strokeWidth` to see lines -- just as have HTML mark, could have SVG mark, or even Plot mark to allow inlays -- since data can be any iterable, should also allow tick values (when actually used since can be transformed by `values`) to be any iterable rather than just an array -- end channels: front, facet (or row/column), ... -- larger capture zone for hover/selection of mark - -## Examples/Tests - -- use `data` of mark to filter data -- multuple y-axis -- have a before or after the axis title by using e.g. position="right", - overriding the textAnchor and using dx and dy -- rotated labels, in this case x labels at bottom: - - ```jsx - String(i).repeat(i + 1)} - textAnchor="end" - style={{ - transformOrigin: '100% 50%', - transformBox: 'fill-box', - transform: "rotate(-45deg)", - }} - /> - ``` \ No newline at end of file +ADD HOVER DOCS diff --git a/packages/ui/src/components/Plot/TestPlot.jsx b/packages/ui/src/components/Plot/TestPlot.jsx deleted file mode 100644 index 00eb5d2c1..000000000 --- a/packages/ui/src/components/Plot/TestPlot.jsx +++ /dev/null @@ -1,47 +0,0 @@ -import { VisProvider } from "./contexts/VisContext"; -import Plot from "./components/Plot" -import Panel from "./components/Panel"; -import XAxis from "./components/XAxis"; -import YAxis from "./components/YAxis"; -import Frame from "./components/Frame"; -import XTick from "./components/XTick"; -import YTick from "./components/YTick"; -import XLabel from "./components/XLabel"; -import * as d3 from "d3"; -import YLabel from "./components/YLabel"; -import XTitle from "./components/XTitle"; -import XGrid from "./components/XGrid"; -import YGrid from "./components/YGrid"; -import Circle from "./components/marks/Circle"; - -const data = [[0, 0], [25, 50], [50, 100]]; - -export default function TestPlot() { - return ( - // - - - - {/* ticks.map(t => t - 2)}/> */} - - - - - - - d[1]} /> - - // - ); -} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/Plot.jsx b/packages/ui/src/components/Plot/components/Plot.jsx index c06e1daa7..2eb8b7b90 100644 --- a/packages/ui/src/components/Plot/components/Plot.jsx +++ b/packages/ui/src/components/Plot/components/Plot.jsx @@ -1,19 +1,31 @@ import { useRef, useEffect } from "react"; import { useMeasure } from "@uidotdev/usehooks"; import { PlotProvider, usePlot, usePlotDispatch } from "../contexts/PlotContext"; +import { useVisClearSelection } from "../contexts/VisContext"; -export default function Plot({ children, responsive, ...options }) { +export default function Plot({ + children, + responsive, + clearOnClick, + clearOnLeave, + ...options + }) { + return ( {responsive - ? {children} - : {children} + ? + {children} + + : + {children} + } ); } -function ResponsivePlot({ children }) { +function ResponsivePlot({ children, clearOnClick, clearOnLeave }) { const plotDispatch = usePlotDispatch(); const [ref, { width }] = useMeasure(); @@ -30,31 +42,49 @@ function ResponsivePlot({ children }) { return (
- + {children}
); } -function SVG({ children }) { +function SVG({ children, clearOnClick, clearOnLeave }) { + + const visClearSelection = useVisClearSelection(); + const plot = usePlot(); const { width, height, background, cornerRadius } = plot; + const attrs = { + viewBox: `0 0 ${width} ${height}`, + xmlns: "http://www.w3.org/2000/svg", + style: { + width: `${width}px`, + height: `${height}px`, + cursor: 'default', + 'MozUserSelect': 'none', + 'WebkitUserDelect': 'none', + 'MsUserSelect': 'none', + 'userSelect': 'none', + }, + }; + if (clearOnClick) { + if (!visClearSelection) { + throw Error("clearOnClick prop can only be used inside a Vis component"); + } + attrs.onClick = visClearSelection; + } + if (clearOnLeave) { + if (!visClearSelection) { + throw Error("clearOnLeave prop can only be used inside a Vis component"); + } + attrs.onMouseLeave = visClearSelection; + } + return ( - {(background !== 'transparent' || cornerRadius > 0) && + + {(background !== 'transparent' || cornerRadius > 0) && ; + +} \ No newline at end of file diff --git a/packages/ui/src/components/Plot/components/marks/SelectionMark.jsx b/packages/ui/src/components/Plot/components/marks/SelectionMark.jsx index 14f4435dc..3396de9ab 100644 --- a/packages/ui/src/components/Plot/components/marks/SelectionMark.jsx +++ b/packages/ui/src/components/Plot/components/marks/SelectionMark.jsx @@ -7,7 +7,6 @@ import { isIterable } from "../../util/helpers"; import { finalData } from "../../util/finalData"; import { processAccessors } from "../../util/processAccessors"; import { rowValues } from "../../util/rowValues"; -import { OTHER } from "../../util/constants"; import DynamicTag from "../util/DynamicTag"; export default memo(function SelectionMark({ @@ -35,18 +34,15 @@ export default memo(function SelectionMark({ const ops = fromFrameOrPlot(['data', 'scales', 'mapX', 'mapY'], frame, plot); const { scales, mapX, mapY } = ops; - const parts = dataFrom.trim().split('-'); - const selectionType = parts[0]; - const selectionLabel = parts.slice(1).join('-') || OTHER; - if (selectionType !== 'hover') { - throw Error(`"${selectionType}" is not a valid selection type`); + if (dataFrom !== 'hover') { + throw Error(`"${dataFrom}" is not a valid selection type`); } if (data && typeof data !== 'function') { throw Error( 'when the dataFrom prop is used, the data prop must be omitted or be a function' ); } - const selectedData = visSelection[selectionType][selectionLabel]; + const selectedData = visSelection.hover; // eslint-disable-next-line data = selectedData ? finalData(selectedData, data) : []; diff --git a/packages/ui/src/components/Plot/components/marks/StandardMark.jsx b/packages/ui/src/components/Plot/components/marks/StandardMark.jsx index 4a7ac06c5..502f37fb8 100644 --- a/packages/ui/src/components/Plot/components/marks/StandardMark.jsx +++ b/packages/ui/src/components/Plot/components/marks/StandardMark.jsx @@ -1,5 +1,8 @@ import { memo } from "react"; -import { useVisUpdateSelection } from "../../contexts/VisContext"; +import { + useVisUpdateSelection, + useVisClearSelection +} from "../../contexts/VisContext"; import { usePlot } from "../../contexts/PlotContext"; import { useFrame } from "../../contexts/FrameContext"; import { fromFrameOrPlot } from "../../util/fromFrameOrPlot"; @@ -7,7 +10,6 @@ import { isIterable } from "../../util/helpers"; import { finalData } from "../../util/finalData"; import { processAccessors } from "../../util/processAccessors"; import { rowValues } from "../../util/rowValues"; -import { OTHER } from "../../util/constants"; import DynamicTag from "../util/DynamicTag"; export default memo(function StandardMark({ @@ -21,7 +23,8 @@ export default memo(function StandardMark({ createContent, }) { - const visUpdateSelection = useVisUpdateSelection(); + const visUpdateSelection = useVisUpdateSelection(); + const visClearSelection = useVisClearSelection(); if (hover && !visUpdateSelection) { throw Error("hover props can only be used inside a Vis component"); } @@ -67,17 +70,10 @@ export default memo(function StandardMark({ const attrs = createAttrs(row); if (hover) { - const selectionLabel = typeof hover === 'string' ? hover : OTHER; - attrs.onMouseEnter = () => visUpdateSelection( - 'hover', - selectionLabel, - [d], - ); - attrs.onMouseLeave = () => visUpdateSelection( - 'hover', - selectionLabel, - null, - ); + attrs.onMouseEnter = () => visUpdateSelection('hover', [d]); + if (hover !== 'stay') { + attrs.onMouseLeave = visClearSelection; + } } marks.push( diff --git a/packages/ui/src/components/Plot/contexts/VisContext.jsx b/packages/ui/src/components/Plot/contexts/VisContext.jsx index e30b0c687..7324c88bd 100644 --- a/packages/ui/src/components/Plot/contexts/VisContext.jsx +++ b/packages/ui/src/components/Plot/contexts/VisContext.jsx @@ -5,21 +5,18 @@ const UpdateSelectionContext = createContext(null); // provider export function Vis({ children }) { - const [selection, setSelection] = useState({ hover: {} }); + const [selection, setSelection] = useState({ hover: null}); const updateSelection = useCallback( - (selectionType, selectionLabel, selectionData) => { - const newSelection = { ...selection }; + (selectionType, newData) => { if (selectionType === 'hover') { - const currentData = newSelection[selectionType][selectionLabel]; - if (currentData === selectionData || - currentData?.[0] === selectionData?.[0]) { + if (selection.hover === newData || + selection.hover?.[0] === newData?.[0]) { return; } - newSelection[selectionType][selectionLabel] = selectionData; - setSelection(newSelection); + setSelection({ hover: newData }); } }, - [] + [selection] ); return ( @@ -37,4 +34,9 @@ export function useVisSelection() { export function useVisUpdateSelection() { return useContext(UpdateSelectionContext); +} + +export function useVisClearSelection() { + const visUpdateSelection = useVisUpdateSelection(); + return () => visUpdateSelection('hover', null); } \ No newline at end of file diff --git a/packages/ui/src/components/Plot/defaults/channelDefaults.js b/packages/ui/src/components/Plot/defaults/channelDefaults.js index 1edcef5fe..826a12f37 100644 --- a/packages/ui/src/components/Plot/defaults/channelDefaults.js +++ b/packages/ui/src/components/Plot/defaults/channelDefaults.js @@ -3,27 +3,29 @@ export const channelDefaults = { // common x: 0, y: 0, - dx: 0, // pixels - dy: 0, // pixels + dx: 0, // pixels + dy: 0, // pixels + dxx: null, // pixels, defaults to dx + dyy: null, // pixels, defaults to dy fill: '#000', fillOpacity: 1, stroke: '#000', strokeOpacity: 1, - strokeWidth: 0, // !! MUST SET STROKE WIDTHS TO SEE LINES !! + strokeWidth: 0, // must set stroke widths to see lines strokeCap: null, strokeDasharray: null, pointerEvents: null, // though 'none' is the default for selection marks // special - only used by one/few marks - xx: 0, // HBar, Segment, HLink, VLink, Edge, VBand - yy: 0, // VBar, Segment, HLink, VLink, Edge, HBand + xx: 0, // Rect, HBar, Segment, HLink, VLink, Edge, VBand + yy: 0, // Rect, VBar, Segment, HLink, VLink, Edge, HBand shape: 'circle', // Point area: 36, // Circle, Point - cornerRadius: null, // HBar, VBar, Rect - width: 1, // VBar, Rect, (x units) - height: 1, // HBar, Rect, (y units) - pxWidth: 1, // VBar, Rect, HTML (pixels) - pxHeight: 1, // HBar, Rect, HTML (pixels) + cornerRadius: null, // HBar, VBar + width: 1, // VBar, (x units) + height: 1, // HBar, (y units) + pxWidth: 1, // VBar, HTML (pixels) + pxHeight: 1, // HBar, HTML (pixels) tension: 0.5, // Edge clockwise: true, // Edge path: null, // Path diff --git a/packages/ui/src/components/Plot/index.js b/packages/ui/src/components/Plot/index.js index db2ff9b2f..aac8c5878 100644 --- a/packages/ui/src/components/Plot/index.js +++ b/packages/ui/src/components/Plot/index.js @@ -18,4 +18,5 @@ export { default as YTick } from "./components/YTick"; export { default as Circle } from "./components/marks/Circle"; export { default as Segment } from "./components/marks/Segment"; export { default as Text } from "./components/marks/Text"; +export { default as Rect } from "./components/marks/Rect"; export { default as HTML } from "./components/marks/HTML"; \ No newline at end of file From 4e5c0fa88c5cf718f760d6502d430e7b8b1ec691 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Fri, 15 Nov 2024 15:27:25 +0000 Subject: [PATCH 031/120] [Platform]: bring home search suggestions from OTG (#537) --- apps/platform/src/pages/HomePage/searchExamples.ts | 4 ++++ 1 file changed, 4 insertions(+) diff --git a/apps/platform/src/pages/HomePage/searchExamples.ts b/apps/platform/src/pages/HomePage/searchExamples.ts index 9ae2e07ef..f51821425 100644 --- a/apps/platform/src/pages/HomePage/searchExamples.ts +++ b/apps/platform/src/pages/HomePage/searchExamples.ts @@ -16,6 +16,7 @@ type Examples = { export const pppSearchExamples: Examples = { targets: [ + { type: "suggestion", entity: "target", name: "PCSK9", id: "ENSG00000169174" }, { type: "suggestion", entity: "target", name: "WRN", id: "ENSG00000165392" }, { type: "suggestion", entity: "target", name: "KRAS", id: "ENSG00000133703" }, { type: "suggestion", entity: "target", name: "WDR7", id: "ENSG00000091157" }, @@ -42,6 +43,7 @@ export const pppSearchExamples: Examples = { { type: "suggestion", entity: "drug", name: "LYRICA", id: "CHEMBL1059" }, ], variants: [ + { type: "suggestion", entity: "variant", name: "rs4129267", id: "1_154453788_C_T" }, { type: "suggestion", entity: "variant", name: "4_1804392_G_A", id: "4_1804392_G_A" }, { type: "suggestion", entity: "variant", name: "11_64600382_G_A", id: "11_64600382_G_A" }, { type: "suggestion", entity: "variant", name: "12_6333477_C_T", id: "12_6333477_C_T" }, @@ -52,6 +54,7 @@ export const pppSearchExamples: Examples = { export const searchExamples: Examples = { targets: [ + { type: "suggestion", entity: "target", name: "PCSK9", id: "ENSG00000169174" }, { type: "suggestion", entity: "target", name: "IL13", id: "ENSG00000169194" }, { type: "suggestion", entity: "target", name: "TSLP", id: "ENSG00000145777" }, { type: "suggestion", entity: "target", name: "ADAM33", id: "ENSG00000149451" }, @@ -113,6 +116,7 @@ export const searchExamples: Examples = { { type: "suggestion", entity: "drug", name: "LYRICA", id: "CHEMBL1059" }, ], variants: [ + { type: "suggestion", entity: "variant", name: "rs4129267", id: "1_154453788_C_T" }, { type: "suggestion", entity: "variant", name: "4_1804392_G_A", id: "4_1804392_G_A" }, { type: "suggestion", entity: "variant", name: "11_64600382_G_A", id: "11_64600382_G_A" }, { type: "suggestion", entity: "variant", name: "12_6333477_C_T", id: "12_6333477_C_T" }, From 99c9871a93bc217476f094f61e3dba3ea7ce87f2 Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Mon, 18 Nov 2024 16:42:55 +0000 Subject: [PATCH 032/120] [Platform]: gwas cred columns (#534) --- .../src/pages/EvidencePage/Profile.jsx | 1 + .../src/evidence/GWASCredibleSets/Body.jsx | 137 +++++++++++------- .../GWASCredibleSetsSummary.gql | 2 +- .../src/evidence/GWASCredibleSets/Summary.jsx | 6 +- .../src/evidence/GWASCredibleSets/index.js | 2 +- .../GWASCredibleSets/sectionQuery.gql | 2 +- .../src/variant/GWASCredibleSets/Body.tsx | 13 +- 7 files changed, 97 insertions(+), 66 deletions(-) diff --git a/apps/platform/src/pages/EvidencePage/Profile.jsx b/apps/platform/src/pages/EvidencePage/Profile.jsx index 4e816085f..5df119648 100644 --- a/apps/platform/src/pages/EvidencePage/Profile.jsx +++ b/apps/platform/src/pages/EvidencePage/Profile.jsx @@ -80,6 +80,7 @@ const summaries = [ ExpressionAtlasSummary, Gene2PhenotypeSummary, GenomicsEnglandSummary, + GWASCredibleSetsSummary, ImpcSummary, IntOgenSummary, GeneBurdenSummary, diff --git a/packages/sections/src/evidence/GWASCredibleSets/Body.jsx b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx index 05183f1f7..80eef3902 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/Body.jsx +++ b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx @@ -1,5 +1,5 @@ import { useQuery } from "@apollo/client"; -import { Tooltip } from "@mui/material"; +// import { Tooltip } from "@mui/material"; import { SectionItem, Link, @@ -7,6 +7,8 @@ import { OtTable, ScientificNotation, ClinvarStars, + OtScoreLinearBar, + Tooltip, } from "ui"; import { naLabel, sectionsBaseSizeQuery, clinvarStarMap } from "../../constants"; @@ -14,20 +16,33 @@ import { definition } from "."; import Description from "./Description"; import { dataTypesMap } from "../../dataTypes"; import GWAS_CREDIBLE_SETS_QUERY from "./sectionQuery.gql"; +import { mantissaExponentComparator } from "../../utils/comparators"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faArrowRightToBracket } from "@fortawesome/free-solid-svg-icons"; +import { Box } from "@mui/material"; function getColumns() { return [ { - id: "disease", - label: "Disease/phenotype", - renderCell: ({ disease }) => {disease.name}, - filterValue: ({ disease }) => disease.name, + id: "credibleSet", + label: "Navigate", + renderCell: ({ credibleSet }) => { + return ( + + + + + + ); + }, }, { - id: "credibleSet", - label: "Credible Set", + id: "variantId", + label: "Lead Variant", renderCell: ({ credibleSet }) => { - return view; + const { variant } = credibleSet; + if (variant?.id) return {variant?.id}; + return naLabel; }, }, { @@ -36,34 +51,19 @@ function getColumns() { renderCell: ({ credibleSet }) => credibleSet?.study.traitFromSource, }, { - id: "study", - label: "Study", - renderCell: ({ credibleSet }) => { - return ( - {credibleSet?.study.studyId} - ); - }, - }, - { - id: "projectId", - label: "Project", - renderCell: ({ credibleSet }) => credibleSet?.study.projectId, + id: "disease", + label: "Disease/phenotype", + renderCell: ({ disease }) => {disease.name}, + filterValue: ({ disease }) => disease.name, }, { - id: "publication", - label: "Publication", + id: "study", + label: "Study Id", renderCell: ({ credibleSet }) => { - const { publicationFirstAuthor, publicationDate, pubmedId } = credibleSet?.study; - if (!publicationFirstAuthor) return naLabel; return ( - + {credibleSet?.study.studyId} ); }, - filterValue: ({ literature, publicationYear, publicationFirstAuthor }) => - `${literature} ${publicationYear} ${publicationFirstAuthor}`, }, { id: "nSamples", @@ -74,31 +74,32 @@ function getColumns() { credibleSet?.study.nSamples ? parseInt(credibleSet?.study.nSamples, 10).toLocaleString() : naLabel, + filterValue: ({ credibleSet }) => parseInt(credibleSet?.study.nSamples, 10).toLocaleString(), }, { - id: "variantId", - label: "Lead Variant", - renderCell: ({ credibleSet }) => { - const { variant } = credibleSet; - if (variant?.id) return {variant?.id}; - return naLabel; + id: "pValue", + label: "P-value", + comparator: (a, b) => { + return mantissaExponentComparator( + a?.credibleSet.pValueMantissa, + a?.credibleSet.pValueExponent, + b?.credibleSet.pValueMantissa, + b?.credibleSet.pValueExponent + ); }, - }, - { - id: "pValueMantissa", - label: ( - <> - Association p-value - - ), - numeric: true, sortable: true, + filterValue: false, renderCell: ({ credibleSet }) => { const { pValueMantissa, pValueExponent } = credibleSet; + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") + return naLabel; return ; }, - comparator: (a, b) => - a.pValueMantissa * 10 ** a.pValueExponent - b.pValueMantissa * 10 ** b.pValueExponent, + exportValue: ({ credibleSet }) => { + const { pValueMantissa, pValueExponent } = credibleSet; + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return null; + return `${pValueMantissa}x10${pValueExponent}`; + }, }, { id: "betaConfidenceInterval", @@ -108,11 +109,6 @@ function getColumns() { return credibleSet?.beta ? `${parseFloat(credibleSet?.beta.toFixed(3))}` : naLabel; }, }, - { - id: "finemappingMethod", - label: "Fine-mapping method", - renderCell: ({ credibleSet }) => credibleSet?.finemappingMethod || naLabel, - }, { id: "confidence", label: "Confidence", @@ -127,6 +123,11 @@ function getColumns() { }, filterValue: ({ credibleSet }) => clinvarStarMap[credibleSet?.confidence], }, + { + id: "finemappingMethod", + label: "Fine-mapping method", + renderCell: ({ credibleSet }) => credibleSet?.finemappingMethod || naLabel, + }, { id: "score", label: "L2G score", @@ -142,9 +143,33 @@ function getColumns() { for more information. ), - numeric: true, sortable: true, - renderCell: ({ score }) => parseFloat(score?.toFixed(5)), + renderCell: ({ score }) => { + if (!score) return naLabel; + return ( + + + + ); + }, + }, + { + id: "publication", + label: "Publication", + renderCell: ({ credibleSet }) => { + const { publicationFirstAuthor, publicationDate, pubmedId } = credibleSet?.study; + if (!publicationFirstAuthor) return naLabel; + return ( + + ); + }, + filterValue: ({ literature, publicationYear, publicationFirstAuthor }) => + `${literature} ${publicationYear} ${publicationFirstAuthor}`, }, ]; } @@ -172,9 +197,9 @@ function Body({ id, label, entity }) { dataDownloader dataDownloaderFileStem={`otgenetics-${ensgId}-${efoId}`} order="desc" - rows={request.data?.disease.openTargetsGenetics.rows} + rows={request.data?.disease.gwasCredibleSets.rows} showGlobalFilter - sortBy="pValueMantissa" + sortBy="score" query={GWAS_CREDIBLE_SETS_QUERY.loc.source.body} variables={variables} loading={request.loading} diff --git a/packages/sections/src/evidence/GWASCredibleSets/GWASCredibleSetsSummary.gql b/packages/sections/src/evidence/GWASCredibleSets/GWASCredibleSetsSummary.gql index 5d7944501..b2196e55a 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/GWASCredibleSetsSummary.gql +++ b/packages/sections/src/evidence/GWASCredibleSets/GWASCredibleSetsSummary.gql @@ -1,5 +1,5 @@ fragment GWASCredibleSetsSummaryFragment on Disease { - openTargetsGenetics: evidences( + gwasCredibleSets: evidences( ensemblIds: [$ensgId] enableIndirect: true datasourceIds: ["gwas_credible_sets"] diff --git a/packages/sections/src/evidence/GWASCredibleSets/Summary.jsx b/packages/sections/src/evidence/GWASCredibleSets/Summary.jsx index 30c269c2b..fe0a6ca2d 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/Summary.jsx +++ b/packages/sections/src/evidence/GWASCredibleSets/Summary.jsx @@ -12,9 +12,7 @@ function Summary() { definition={definition} request={request} renderSummary={data => - `${data.openTargetsGenetics.count} entr${ - data.openTargetsGenetics.count === 1 ? "y" : "ies" - }` + `${data.gwasCredibleSets.count} entr${data.gwasCredibleSets.count === 1 ? "y" : "ies"}` } subText={dataTypesMap.genetic_association} /> @@ -22,7 +20,7 @@ function Summary() { } Summary.fragments = { - OpenTargetsGeneticsSummaryFragment: GWAS_CREDIBLE_SETS_SUMMARY_FRAGMENT, + GWASCredibleSetsSummaryFragment: GWAS_CREDIBLE_SETS_SUMMARY_FRAGMENT, }; export default Summary; diff --git a/packages/sections/src/evidence/GWASCredibleSets/index.js b/packages/sections/src/evidence/GWASCredibleSets/index.js index 8f1e296f9..64a8fa54c 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/index.js +++ b/packages/sections/src/evidence/GWASCredibleSets/index.js @@ -5,6 +5,6 @@ export const definition = { id, name: "GWAS credible sets", shortName: "GC", - hasData: data => data.openTargetsGenetics.count > 0, + hasData: data => data.gwasCredibleSets.count > 0, isPrivate: isPrivateEvidenceSection(id), }; diff --git a/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql b/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql index 9ecf12244..80361fbc1 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql +++ b/packages/sections/src/evidence/GWASCredibleSets/sectionQuery.gql @@ -5,7 +5,7 @@ query GwasCredibleSetsQuery($ensemblId: String!, $efoId: String!, $size: Int!) { disease(efoId: $efoId) { id name - openTargetsGenetics: evidences( + gwasCredibleSets: evidences( ensemblIds: [$ensemblId] enableIndirect: true datasourceIds: ["gwas_credible_sets"] diff --git a/packages/sections/src/variant/GWASCredibleSets/Body.tsx b/packages/sections/src/variant/GWASCredibleSets/Body.tsx index dcf219686..1ce332f67 100644 --- a/packages/sections/src/variant/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/variant/GWASCredibleSets/Body.tsx @@ -16,6 +16,8 @@ import Description from "./Description"; import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; import { Fragment } from "react/jsx-runtime"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; +import { faArrowRightToBracket } from "@fortawesome/free-solid-svg-icons"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; type getColumnsType = { id: string; @@ -33,9 +35,13 @@ function getColumns({ return [ { id: "studyLocusId", - label: "More details", + label: "Navigate", renderCell: ({ studyLocusId }) => ( - {studyLocusId} + + + + + ), }, { @@ -256,7 +262,8 @@ function Body({ id, entity }: BodyProps) { Date: Mon, 18 Nov 2024 16:44:54 +0000 Subject: [PATCH 033/120] [Platform]: Different colours in ClinVar stars (#535) --- packages/ui/src/components/ClinvarStars.tsx | 6 +----- 1 file changed, 1 insertion(+), 5 deletions(-) diff --git a/packages/ui/src/components/ClinvarStars.tsx b/packages/ui/src/components/ClinvarStars.tsx index 26bd35bcd..ae788b36f 100644 --- a/packages/ui/src/components/ClinvarStars.tsx +++ b/packages/ui/src/components/ClinvarStars.tsx @@ -20,11 +20,7 @@ function ClinvarStars({ num, length = 4 }: ClinvarStarsProps) { const stars = []; for (let i = 0; i < length; i++) { stars.push( - 0 ? classes.star : ""} - icon={num > i ? faStarSolid : faStar} - /> + i ? faStarSolid : faStar} /> ); } From 113f302f87433fdc5f8c1a17eaeb030a399cf9f5 Mon Sep 17 00:00:00 2001 From: Carlos Cruz Date: Mon, 18 Nov 2024 17:42:04 +0000 Subject: [PATCH 034/120] Revert "[Platform]: table/section fix" (#540) * Revert "[Platform]: table/section fix (#525)" This reverts commit c7a3282360d8752245d14849db20688579042261. * fix: update profile header --- .../src/pages/VariantPage/ProfileHeader.tsx | 5 +--- .../pages/VariantPage/ProfileHeaderLoader.tsx | 12 --------- .../ui/src/components/OtTable/OtTable.tsx | 24 +++++++++--------- .../ui/src/components/OtTable/table.types.ts | 3 ++- .../ui/src/components/Section/SectionItem.tsx | 25 ++++++++++--------- 5 files changed, 28 insertions(+), 41 deletions(-) delete mode 100644 apps/platform/src/pages/VariantPage/ProfileHeaderLoader.tsx diff --git a/apps/platform/src/pages/VariantPage/ProfileHeader.tsx b/apps/platform/src/pages/VariantPage/ProfileHeader.tsx index 628801f29..e39ac867e 100644 --- a/apps/platform/src/pages/VariantPage/ProfileHeader.tsx +++ b/apps/platform/src/pages/VariantPage/ProfileHeader.tsx @@ -1,10 +1,9 @@ // import { useState, useEffect } from "react"; import { usePlatformApi, Field, ProfileHeader as BaseProfileHeader, Link, LongText } from "ui"; -import { Box, Typography, Skeleton } from "@mui/material"; +import { Box, Typography } from "@mui/material"; import { identifiersOrgLink } from "../../utils/global"; import VARIANT_PROFILE_HEADER_FRAGMENT from "./ProfileHeader.gql"; -import ProfileHeaderLoader from "./ProfileHeaderLoader"; function ProfileHeader() { const { loading, error, data } = usePlatformApi(); @@ -12,8 +11,6 @@ function ProfileHeader() { // TODO: Errors! if (error) return null; - if (loading) return ; - return ( diff --git a/apps/platform/src/pages/VariantPage/ProfileHeaderLoader.tsx b/apps/platform/src/pages/VariantPage/ProfileHeaderLoader.tsx deleted file mode 100644 index 6668e9e82..000000000 --- a/apps/platform/src/pages/VariantPage/ProfileHeaderLoader.tsx +++ /dev/null @@ -1,12 +0,0 @@ -import { Box, Skeleton } from "@mui/material"; -import { ReactElement } from "react"; - -function ProfileHeaderLoader(): ReactElement { - return ( - - - - - ); -} -export default ProfileHeaderLoader; diff --git a/packages/ui/src/components/OtTable/OtTable.tsx b/packages/ui/src/components/OtTable/OtTable.tsx index b45e8f0cc..e5763d013 100644 --- a/packages/ui/src/components/OtTable/OtTable.tsx +++ b/packages/ui/src/components/OtTable/OtTable.tsx @@ -1,5 +1,5 @@ -import { ReactElement, ReactNode, useState } from "react"; -import { Box, Grid, IconButton, NativeSelect, Skeleton } from "@mui/material"; +import { ReactElement, ReactNode, useEffect, useState } from "react"; +import { Box, CircularProgress, Grid, IconButton, NativeSelect, Skeleton } from "@mui/material"; import { useReactTable, ColumnFiltersState, @@ -26,7 +26,7 @@ import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; import OtTableColumnFilter from "./OtTableColumnFilter"; // import { naLabel } from "../../constants"; import OtTableSearch from "./OtTableSearch"; -import { OtTableProps } from "./table.types"; +import { loadingTableRows, OtTableProps } from "./table.types"; import { FontAwesomeIconPadded, OtTableContainer, @@ -79,6 +79,7 @@ const searchFilter: FilterFn = (row, columnId, value, addMeta) => { function OtTable({ showGlobalFilter = true, + tableDataLoading = false, columns = [], rows = [], verticalHeaders = false, @@ -96,10 +97,10 @@ function OtTable({ const [columnFilters, setColumnFilters] = useState([]); const mappedColumns = mapTableColumnToTanstackColumns(columns); - const data = loading ? getLoadingRows(mappedColumns, 10) : rows; + // const loadingRows = getLoadingRows(mappedColumns, 10); const table = useReactTable({ - data, + data: rows, columns: mappedColumns, filterFns: { searchFilterFn: searchFilter, @@ -122,11 +123,6 @@ function OtTable({ getFacetedUniqueValues: getFacetedUniqueValues(), }); - function getCellData(cell: Record): ReactNode { - if (loading) return ; - return <>{flexRender(cell.column.columnDef.cell, cell.getContext())}; - } - return (
{/* Global Search */} @@ -212,8 +208,11 @@ function OtTable({ return ( - {getCellData(cell)} - {/* {flexRender(cell.column.columnDef.cell, cell.getContext())} */} + {table.getState().loading ? ( + + ) : ( + <>{flexRender(cell.column.columnDef.cell, cell.getContext())} + )} {/* TODO: check NA value */} {/* {Boolean(flexRender(cell.column.columnDef.cell, cell.getContext())) || naLabel} */} @@ -242,6 +241,7 @@ function OtTable({ padding: theme => `${theme.spacing(2)} 0 `, }} > + {tableDataLoading && theme.spacing(2) }} size={25} />}
Rows per page: >; rows: Array>; verticalHeaders: boolean; @@ -32,7 +33,7 @@ export type OtTableProps = { }; export type loadingTableRows = { - id: string | null; + id: string; }; /************************* diff --git a/packages/ui/src/components/Section/SectionItem.tsx b/packages/ui/src/components/Section/SectionItem.tsx index 368b83094..e1193d034 100644 --- a/packages/ui/src/components/Section/SectionItem.tsx +++ b/packages/ui/src/components/Section/SectionItem.tsx @@ -40,7 +40,6 @@ function SectionItem({ request, renderDescription, renderBody, - tags, chipText, entity, showEmptySection = false, @@ -60,16 +59,6 @@ function SectionItem({ if (!hasData && !showEmptySection && !loading) return null; - function getSelectedView(): ReactNode { - if (error) return ; - if (showContentLoading && loading) - return ; - if (selectedView === VIEW.table) return renderBody(); - if (selectedView === VIEW.chart) return renderChart(); - // if (!loading && !hasData && showEmptySection) - return
No data available for this {entity}.
; - } - return (
@@ -117,7 +106,19 @@ function SectionItem({ - {getSelectedView()} + + <> + {error && } + {showContentLoading && loading && ( + + )} + {hasData && selectedView === VIEW.table && renderBody()} + {hasData && selectedView === VIEW.chart && renderChart()} + {showEmptySection && ( +
No data available for this {entity}.
+ )} + +
From 0c37a77171fc8b79e189e786afaefae6053ed91d Mon Sep 17 00:00:00 2001 From: Carlos Cruz Date: Mon, 18 Nov 2024 21:15:17 +0000 Subject: [PATCH 035/120] [Platform]: Credible-set page molQTL section (#539) * feat: create molqtl * feat: refactor * feat: fix summary issue --- .../pages/CredibleSetPage/CredibleSetPage.gql | 7 +- .../pages/CredibleSetPage/CredibleSetPage.tsx | 5 + .../src/pages/CredibleSetPage/Profile.tsx | 81 ++++--- apps/platform/src/pages/StudyPage/Profile.tsx | 34 ++- .../src/pages/StudyPage/StudyPage.gql | 1 + .../src/pages/StudyPage/StudyPage.tsx | 6 +- .../src/credibleSet/GWASMolQTL/Body.tsx | 220 ++++++++++++++++++ .../credibleSet/GWASMolQTL/Description.tsx | 14 ++ .../GWASMolQTL/GWASMolQTLColocQuery.gql | 39 ++++ .../GWASMolQTL/GWASMolQTLSummaryFragment.gql | 5 + .../src/credibleSet/GWASMolQTL/Summary.tsx | 16 ++ .../src/credibleSet/GWASMolQTL/index.ts | 8 + 12 files changed, 383 insertions(+), 53 deletions(-) create mode 100644 packages/sections/src/credibleSet/GWASMolQTL/Body.tsx create mode 100644 packages/sections/src/credibleSet/GWASMolQTL/Description.tsx create mode 100644 packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLColocQuery.gql create mode 100644 packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLSummaryFragment.gql create mode 100644 packages/sections/src/credibleSet/GWASMolQTL/Summary.tsx create mode 100644 packages/sections/src/credibleSet/GWASMolQTL/index.ts diff --git a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql index 9767b96a9..335ca68b0 100644 --- a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql +++ b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql @@ -1,12 +1,13 @@ query CredibleSetPageQuery($studyLocusIds: [String!]!) { credibleSets(studyLocusIds: $studyLocusIds) { variant { - id, - referenceAllele, + id + referenceAllele alternateAllele } study { studyId + studyType } } -} \ No newline at end of file +} diff --git a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx index fb712c95e..e90641f10 100644 --- a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx +++ b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx @@ -25,6 +25,9 @@ function CredibleSetPage() { const referenceAllele = credibleSet?.variant?.referenceAllele; const alternateAllele = credibleSet?.variant?.alternateAllele; const studyId = credibleSet?.study?.studyId; + const studyType = credibleSet?.study?.studyType; + + if (!studyType) return null; return ( diff --git a/apps/platform/src/pages/CredibleSetPage/Profile.tsx b/apps/platform/src/pages/CredibleSetPage/Profile.tsx index 8c551477b..26178d0a2 100644 --- a/apps/platform/src/pages/CredibleSetPage/Profile.tsx +++ b/apps/platform/src/pages/CredibleSetPage/Profile.tsx @@ -10,43 +10,57 @@ import { import VariantsSummary from "sections/src/credibleSet/Variants/Summary"; import GWASColocSummary from "sections/src/credibleSet/GWASColoc/Summary"; +import GWASMolQTLSummary from "sections/src/credibleSet/GWASMolQTL/Summary"; import Locus2GeneSummary from "sections/src/credibleSet/Locus2Gene/Summary"; import client from "../../client"; import ProfileHeader from "./ProfileHeader"; + +const GWASMolQTLSection = lazy(() => import("sections/src/credibleSet/GWASMolQTL/Body")); const VariantsSection = lazy(() => import("sections/src/credibleSet/Variants/Body")); const GWASColocSection = lazy(() => import("sections/src/credibleSet/GWASColoc/Body")); const Locus2GeneSection = lazy(() => import("sections/src/credibleSet/Locus2Gene/Body")); -const summaries = [VariantsSummary, GWASColocSummary, Locus2GeneSummary]; - const CREDIBLE_SET = "credibleSets"; -const CREDIBLE_SET_PROFILE_SUMMARY_FRAGMENT = summaryUtils.createSummaryFragment( - summaries, - "credibleSet", - "CredibleSetProfileSummaryFragment" -); -const CREDIBLE_SET_PROFILE_QUERY = gql` - query CredibleSetProfileQuery($studyLocusIds: [String!]!) { - credibleSets(studyLocusIds: $studyLocusIds) { - studyLocusId - ...CredibleSetProfileHeaderFragment - ...CredibleSetProfileSummaryFragment - } + +const createProfileQuery = (studyType: string) => { + const summaries = [VariantsSummary, Locus2GeneSummary]; + if (studyType === "gwas") { + summaries.push(GWASColocSummary); + } + if (studyType !== "gwas") { + summaries.push(GWASMolQTLSummary); } - ${ProfileHeader.fragments.profileHeader} - ${CREDIBLE_SET_PROFILE_SUMMARY_FRAGMENT} -`; -type ProfileProps = { - studyLocusId: string; - variantId: string; - referenceAllele: string; - alternateAllele: string; + const CREDIBLE_SET_PROFILE_SUMMARY_FRAGMENT = summaryUtils.createSummaryFragment( + summaries, + "credibleSet", + "CredibleSetProfileSummaryFragment" + ); + + const CREDIBLE_SET_PROFILE_QUERY = gql` + query CredibleSetProfileQuery($studyLocusIds: [String!]!) { + credibleSets(studyLocusIds: $studyLocusIds) { + studyLocusId + ...CredibleSetProfileHeaderFragment + ...CredibleSetProfileSummaryFragment + } + } + ${ProfileHeader.fragments.profileHeader} + ${CREDIBLE_SET_PROFILE_SUMMARY_FRAGMENT} + `; + return CREDIBLE_SET_PROFILE_QUERY; }; -function Profile({ studyLocusId, variantId, referenceAllele, alternateAllele }: ProfileProps) { +function Profile({ + studyLocusId, + variantId, + referenceAllele, + alternateAllele, + studyType, +}: ProfileProps) { + const CREDIBLE_SET_PROFILE_QUERY = createProfileQuery(studyType); return ( - + {studyType === "gwas" && ( + <> + + + )} + {studyType !== "gwas" && } @@ -72,12 +91,20 @@ function Profile({ studyLocusId, variantId, referenceAllele, alternateAllele }: entity={CREDIBLE_SET} /> - }> - - }> + + {studyType === "gwas" && ( + }> + + + )} + {studyType !== "gwas" && ( + }> + + + )} ); diff --git a/apps/platform/src/pages/StudyPage/Profile.tsx b/apps/platform/src/pages/StudyPage/Profile.tsx index dfb228fb9..fc69dc820 100644 --- a/apps/platform/src/pages/StudyPage/Profile.tsx +++ b/apps/platform/src/pages/StudyPage/Profile.tsx @@ -15,9 +15,7 @@ import QTLCredibleSetsSummary from "sections/src/study/QTLCredibleSets/Summary"; import client from "../../client"; import ProfileHeader from "./ProfileHeader"; -const SharedTraitStudiesSection = lazy( - () => import("sections/src/study/SharedTraitStudies/Body") -); +const SharedTraitStudiesSection = lazy(() => import("sections/src/study/SharedTraitStudies/Body")); const GWASCredibleSetsSection = lazy(() => import("sections/src/study/GWASCredibleSets/Body")); const QTLCredibleSetsSection = lazy(() => import("sections/src/study/QTLCredibleSets/Body")); @@ -38,7 +36,7 @@ const STUDY_PROFILE_QUERY = gql` ...StudyProfileHeaderFragment ...StudyProfileSummaryFragment } - sharedTraitStudies: gwasStudy(diseaseIds: $diseaseIds, page: { size: 2, index: 0}) { + sharedTraitStudies: gwasStudy(diseaseIds: $diseaseIds, page: { size: 2, index: 0 }) { studyId } } @@ -55,9 +53,11 @@ type ProfileProps = { }[]; }; -function Profile({ studyId, studyCategory, diseases }: ProfileProps) { +function Profile({ studyId, studyType, diseases }: ProfileProps) { const diseaseIds = diseases?.map(d => d.id) || []; + console.log({ studyType }); + return ( - + - {(studyCategory === "GWAS" || studyCategory === "FINNGEN") && + {studyType === "gwas" && ( <> - } - {studyCategory === "QTL" && - - } + )} + {studyType !== "gwas" && } - {(studyCategory === "GWAS" || studyCategory === "FINNGEN") && + {studyType === "gwas" && ( <> }> - + }> - } - {studyCategory === "QTL" && ( + )} + {studyType !== "gwas" && ( }> @@ -107,4 +101,4 @@ function Profile({ studyId, studyCategory, diseases }: ProfileProps) { ); } -export default Profile; \ No newline at end of file +export default Profile; diff --git a/apps/platform/src/pages/StudyPage/StudyPage.gql b/apps/platform/src/pages/StudyPage/StudyPage.gql index f3cda74ea..eff1ac171 100644 --- a/apps/platform/src/pages/StudyPage/StudyPage.gql +++ b/apps/platform/src/pages/StudyPage/StudyPage.gql @@ -1,6 +1,7 @@ query StudyPageQuery($studyId: String!) { gwasStudy(studyId: $studyId) { studyId + studyType projectId backgroundTraits { id diff --git a/apps/platform/src/pages/StudyPage/StudyPage.tsx b/apps/platform/src/pages/StudyPage/StudyPage.tsx index 0171960f3..3738eeab0 100644 --- a/apps/platform/src/pages/StudyPage/StudyPage.tsx +++ b/apps/platform/src/pages/StudyPage/StudyPage.tsx @@ -31,7 +31,7 @@ function StudyPage() { return ; } - const studyCategory = getStudyCategory(studyInfo?.projectId); + const studyType = studyInfo?.studyType; return ( @@ -67,7 +67,7 @@ function StudyPage() { - + diff --git a/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx new file mode 100644 index 000000000..0de17ba85 --- /dev/null +++ b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx @@ -0,0 +1,220 @@ +import { useQuery } from "@apollo/client"; +import { Link, SectionItem, DisplayVariantId, ScientificNotation, OtTable } from "ui"; +import { naLabel } from "../../constants"; +import { definition } from "."; +import Description from "./Description"; +import GWAS_COLOC_QUERY from "./GWASMolQTLColocQuery.gql"; +import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; +import { getStudyCategory } from "../../utils/getStudyCategory"; + +const columns = [ + { + id: "view", + label: "Details", + renderCell: ({ otherStudyLocus }) => { + if (!otherStudyLocus) return naLabel; + return view; + }, + filterValue: false, + exportValue: false, + }, + { + id: "otherStudyLocus.study.target", + label: "Gene", + renderCell: ({ otherStudyLocus }) => { + const study = otherStudyLocus?.study; + if (!study?.target) return naLabel; + return {study.target.approvedSymbol}; + }, + }, + { + id: "otherStudyLocus.study.studyId", + label: "Study ID", + renderCell: ({ otherStudyLocus }) => { + const studyId = otherStudyLocus?.study?.studyId; + if (!studyId) return naLabel; + return {studyId}; + }, + }, + { + id: "otherStudyLocus.study.traitFromSource", + label: "Trait", + renderCell: ({ otherStudyLocus }) => { + const trait = otherStudyLocus?.study?.traitFromSource; + if (!trait) return naLabel; + return trait; + }, + }, + { + id: "otherStudyLocus.study.publicationFirstAuthor", + label: "Author", + renderCell: ({ otherStudyLocus }) => { + const { projectId, publicationFirstAuthor } = otherStudyLocus?.study || {}; + return getStudyCategory(projectId) === "FINNGEN" + ? "FinnGen" + : publicationFirstAuthor || naLabel; + }, + exportValue: ({ otherStudyLocus }) => { + const { projectId, publicationFirstAuthor } = otherStudyLocus.study || {}; + getStudyCategory(projectId) === "FINNGEN" ? "FinnGen" : publicationFirstAuthor; + }, + }, + { + id: "otherStudyLocus.study.studyType", + label: "Affected tissue/cell", + renderCell: ({ otherStudyLocus }) => { + const biosample = otherStudyLocus?.study?.biosample; + if (!biosample) return naLabel; + return {biosample.name}; + }, + }, + { + id: "otherStudyLocus.study.studyType", + label: "QTL type", + renderCell: ({ otherStudyLocus }) => { + const studyType = otherStudyLocus?.study?.studyType; + if (!studyType) return naLabel; + return studyType; + }, + }, + { + id: "otherStudyLocus.variant.id", + label: "Lead Variant", + comparator: variantComparator, + sortable: true, + filterValue: ({ otherStudyLocus }) => { + const v = otherStudyLocus?.variant; + return `${v?.chromosome}_${v?.position}_${v?.referenceAllele}_${v?.alternateAllele}`; + }, + renderCell: ({ otherStudyLocus }) => { + if (!otherStudyLocus?.variant) return naLabel; + const { id: variantId, referenceAllele, alternateAllele } = otherStudyLocus.variant; + return ( + + + + ); + }, + exportValue: ({ otherStudyLocus }) => otherStudyLocus?.variant?.id, + }, + { + id: "pValue", + label: "P-Value", + comparator: ({ otherStudyLocus: a }, { otherStudyLocus: b }) => + mantissaExponentComparator( + a?.pValueMantissa, + a?.pValueExponent, + b?.pValueMantissa, + b?.pValueExponent + ), + sortable: true, + filterValue: false, + renderCell: ({ otherStudyLocus }) => { + const { pValueMantissa, pValueExponent } = otherStudyLocus ?? {}; + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return naLabel; + return ; + }, + exportValue: ({ otherStudyLocus }) => { + const { pValueMantissa, pValueExponent } = otherStudyLocus ?? {}; + if (typeof pValueMantissa !== "number" || typeof pValueExponent !== "number") return null; + return `${pValueMantissa}x10${pValueExponent}`; + }, + }, + { + id: "numberColocalisingVariants", + label: "Colocalising Variants (n)", + filterValue: false, + comparator: (a, b) => a?.numberColocalisingVariants - b?.numberColocalisingVariants, + sortable: true, + }, + { + id: "colocalisationMethod", + label: "Colocalisation Method", + }, + { + id: "h3", + label: "H3", + tooltip: ( + <> + Posterior probability that the signals do not colocalise + + ), + filterValue: false, + comparator: (a, b) => a?.h3 - b?.h3, + sortable: true, + renderCell: ({ h3 }) => { + if (typeof h3 !== "number") return naLabel; + return h3.toPrecision(3); + }, + }, + { + id: "h4", + label: "H4", + tooltip: "Posterior probability that the signals colocalise", + filterValue: false, + comparator: (a, b) => a?.h4 - b?.h4, + sortable: true, + renderCell: ({ h4 }) => { + if (typeof h4 !== "number") return naLabel; + return h4.toPrecision(3); + }, + }, + { + id: "clpp", + label: "CLPP", + filterValue: false, + comparator: (a, b) => a?.clpp - b?.clpp, + sortable: true, + renderCell: ({ clpp }) => { + if (typeof clpp !== "number") return naLabel; + return clpp.toPrecision(3); + }, + }, +]; + +type BodyProps = { + studyLocusId: string; + entity: string; +}; + +function Body({ studyLocusId, entity }: BodyProps) { + const variables = { + studyLocusIds: [studyLocusId], + }; + + const request = useQuery(GWAS_COLOC_QUERY, { + variables, + }); + + return ( + } + renderBody={() => { + return ( + + ); + }} + /> + ); +} + +export default Body; diff --git a/packages/sections/src/credibleSet/GWASMolQTL/Description.tsx b/packages/sections/src/credibleSet/GWASMolQTL/Description.tsx new file mode 100644 index 000000000..7ffb70ecf --- /dev/null +++ b/packages/sections/src/credibleSet/GWASMolQTL/Description.tsx @@ -0,0 +1,14 @@ +import { Link } from "ui"; + +function Description() { + return ( + <> + GWAS studies that colocalise with this credible set. Source:{" "} + + Open Targets + + + ); +} + +export default Description; \ No newline at end of file diff --git a/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLColocQuery.gql b/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLColocQuery.gql new file mode 100644 index 000000000..5451c53f6 --- /dev/null +++ b/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLColocQuery.gql @@ -0,0 +1,39 @@ +query GWASMolQTLColocQuery($studyLocusIds: [String!]!) { + credibleSets(studyLocusIds: $studyLocusIds) { + colocalisation(studyTypes: [tuqtl, pqtl, eqtl, sqtl], page: { size: 250, index: 0 }) { + otherStudyLocus { + studyLocusId + study { + studyId + studyType + projectId + traitFromSource + publicationFirstAuthor + target { + approvedSymbol + id + } + biosample { + biosampleId + biosampleName + description + } + } + variant { + id + chromosome + position + referenceAllele + alternateAllele + } + pValueMantissa + pValueExponent + } + numberColocalisingVariants + colocalisationMethod + h3 + h4 + clpp + } + } +} diff --git a/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLSummaryFragment.gql b/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLSummaryFragment.gql new file mode 100644 index 000000000..fad9e87f6 --- /dev/null +++ b/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLSummaryFragment.gql @@ -0,0 +1,5 @@ +fragment GWASMolQTLSummaryFragment on credibleSet { + colocalisation(studyTypes: [tuqtl, pqtl, eqtl, sqtl], page: { size: 1, index: 0 }) { + colocalisationMethod + } +} diff --git a/packages/sections/src/credibleSet/GWASMolQTL/Summary.tsx b/packages/sections/src/credibleSet/GWASMolQTL/Summary.tsx new file mode 100644 index 000000000..e7d1affe6 --- /dev/null +++ b/packages/sections/src/credibleSet/GWASMolQTL/Summary.tsx @@ -0,0 +1,16 @@ +import { SummaryItem, usePlatformApi } from "ui"; + +import { definition } from "."; +import GWASMOLQTL_SUMMARY from "./GWASMolQTLSummaryFragment.gql"; + +function Summary() { + const request = usePlatformApi(GWASMOLQTL_SUMMARY); + + return ; +} + +Summary.fragments = { + GWASMolQTLSummaryFragment: GWASMOLQTL_SUMMARY, +}; + +export default Summary; diff --git a/packages/sections/src/credibleSet/GWASMolQTL/index.ts b/packages/sections/src/credibleSet/GWASMolQTL/index.ts new file mode 100644 index 000000000..cec2a6008 --- /dev/null +++ b/packages/sections/src/credibleSet/GWASMolQTL/index.ts @@ -0,0 +1,8 @@ +export const definition = { + id: "gwas_coloc", + name: "GWAS/MolQTL Colocalisation", + shortName: "GC", + hasData: data => { + return data?.[0]?.colocalisation?.length > 0; + }, +}; From 6749a1c075c5ce72dd22407a0a9f779b800afd33 Mon Sep 17 00:00:00 2001 From: Carlos Cruz Date: Tue, 19 Nov 2024 12:47:49 +0000 Subject: [PATCH 036/120] [AppConfig]: fix travis release --- .travis.yml | 1 + 1 file changed, 1 insertion(+) diff --git a/.travis.yml b/.travis.yml index 931a526ca..04d9d981d 100644 --- a/.travis.yml +++ b/.travis.yml @@ -26,6 +26,7 @@ after_success: before_deploy: - yes | gem update --system --force - gem install bundler + - gem install faraday-net_http -v '3.3.0' - gem install uri - gem install logger deploy: From 2b5131cfd6c63612131966150956043bf1b550d0 Mon Sep 17 00:00:00 2001 From: Graham McNeill Date: Tue, 19 Nov 2024 13:17:31 +0000 Subject: [PATCH 037/120] [Platform] Limit minimum p-value in Manhattan plots (#542) --- .../study/GWASCredibleSets/ManhattanPlot.tsx | 83 ++++++++++--------- .../Plot/components/marks/Circle.jsx | 16 ++-- .../Plot/components/marks/StandardMark.jsx | 22 ++--- .../components/Plot/util/processAccessors.js | 34 ++++---- .../ui/src/components/Plot/util/rowValues.js | 16 ++-- 5 files changed, 87 insertions(+), 84 deletions(-) diff --git a/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx index ac4324f9e..417acce52 100644 --- a/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx +++ b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx @@ -22,7 +22,7 @@ import { ScientificNotation } from "ui"; import { naLabel } from "../../constants"; export default function ManhattanPlot({ loading, data }) { - + const plotHeight = 390; const theme = useTheme(); const background = theme.palette.background.paper; @@ -36,8 +36,8 @@ export default function ManhattanPlot({ loading, data }) { // eslint-disable-next-line data = data.filter(d => { return d.pValueMantissa != null && - d.pValueExponent != null && - d.variant != null; + d.pValueExponent != null && + d.variant != null; }); if (data.length === 0) return null; @@ -53,7 +53,7 @@ export default function ManhattanPlot({ loading, data }) { const x = genomePositions[row.variant.id]; return x < genomeLength / 2 ? 'left' : 'right'; } - + function yAnchor(row) { const y = pValue(row); return Math.log10(y) > Math.log10(pValueMin) / 2 ? 'bottom' : 'top'; @@ -87,7 +87,7 @@ export default function ManhattanPlot({ loading, data }) { format={(_, i, __, tickData) => tickData[i].chromosome} padding={5} /> - tickData.map(chromo => chromo.end)} stroke="#cecece" strokeDasharray="3 4" @@ -208,17 +208,17 @@ function Tooltip({ data }) { {data.beta?.toFixed(3) ?? naLabel} - {data.finemappingMethod ?? naLabel} + {data.finemappingMethod ?? naLabel} {data.l2Gpredictions?.[0].target ? - - {data.l2Gpredictions?.[0].target.approvedSymbol} - - + + {data.l2Gpredictions?.[0].target.approvedSymbol} + + : - {naLabel} - + {naLabel} + } {data.l2Gpredictions?.[0].score.toFixed(3)} @@ -241,7 +241,7 @@ function TooltipRow({ children, label }) { - + {children} @@ -250,40 +250,43 @@ function TooltipRow({ children, label }) { } function pValue(row) { - return row.pValueMantissa * 10 ** row.pValueExponent; + return Math.max( + row.pValueMantissa * 10 ** row.pValueExponent, + Number.MIN_VALUE + ); } // from: https://www.ncbi.nlm.nih.gov/grc/human/data // (first tab: "Chromosome lengths") const chromosomeInfo = [ - { chromosome: '1', length: 248956422 }, - { chromosome: '2', length: 242193529 }, - { chromosome: '3', length: 198295559 }, - { chromosome: '4', length: 190214555 }, - { chromosome: '5', length: 181538259 }, - { chromosome: '6', length: 170805979 }, - { chromosome: '7', length: 159345973 }, - { chromosome: '8', length: 145138636 }, - { chromosome: '9', length: 138394717 }, - { chromosome: '10', length: 133797422 }, - { chromosome: '11', length: 135086622 }, - { chromosome: '12', length: 133275309 }, - { chromosome: '13', length: 114364328 }, - { chromosome: '14', length: 107043718 }, - { chromosome: '15', length: 101991189 }, - { chromosome: '16', length: 90338345 }, - { chromosome: '17', length: 83257441 }, - { chromosome: '18', length: 80373285 }, - { chromosome: '19', length: 58617616 }, - { chromosome: '20', length: 64444167 }, - { chromosome: '21', length: 46709983 }, - { chromosome: '22', length: 50818468 }, - { chromosome: 'X', length: 156040895 }, - { chromosome: 'Y', length: 57227415 }, + { chromosome: '1', length: 248956422 }, + { chromosome: '2', length: 242193529 }, + { chromosome: '3', length: 198295559 }, + { chromosome: '4', length: 190214555 }, + { chromosome: '5', length: 181538259 }, + { chromosome: '6', length: 170805979 }, + { chromosome: '7', length: 159345973 }, + { chromosome: '8', length: 145138636 }, + { chromosome: '9', length: 138394717 }, + { chromosome: '10', length: 133797422 }, + { chromosome: '11', length: 135086622 }, + { chromosome: '12', length: 133275309 }, + { chromosome: '13', length: 114364328 }, + { chromosome: '14', length: 107043718 }, + { chromosome: '15', length: 101991189 }, + { chromosome: '16', length: 90338345 }, + { chromosome: '17', length: 83257441 }, + { chromosome: '18', length: 80373285 }, + { chromosome: '19', length: 58617616 }, + { chromosome: '20', length: 64444167 }, + { chromosome: '21', length: 46709983 }, + { chromosome: '22', length: 50818468 }, + { chromosome: 'X', length: 156040895 }, + { chromosome: 'Y', length: 57227415 }, ]; chromosomeInfo.forEach((chromo, i) => { - chromo.start = chromosomeInfo[i-1]?.end ?? 0; + chromo.start = chromosomeInfo[i - 1]?.end ?? 0; chromo.end = chromo.start + chromo.length; chromo.midpoint = (chromo.start + chromo.end) / 2; }); @@ -291,7 +294,7 @@ chromosomeInfo.forEach((chromo, i) => { const genomeLength = chromosomeInfo.at(-1).end; const chromosomeInfoMap = new Map( - chromosomeInfo.map(obj => [ obj.chromosome, obj ]) + chromosomeInfo.map(obj => [obj.chromosome, obj]) ); function cumulativePosition({ chromosome, position }) { diff --git a/packages/ui/src/components/Plot/components/marks/Circle.jsx b/packages/ui/src/components/Plot/components/marks/Circle.jsx index 5dd1dbcf9..9f7a4adf9 100644 --- a/packages/ui/src/components/Plot/components/marks/Circle.jsx +++ b/packages/ui/src/components/Plot/components/marks/Circle.jsx @@ -1,12 +1,12 @@ import Mark from "./Mark"; export default function Circle({ - data, - dataFrom, - missing = 'throw', - hover, - ...accessors - }) { + data, + dataFrom, + missing = 'throw', + hover, + ...accessors +}) { const markChannels = [ 'x', @@ -25,7 +25,7 @@ export default function Circle({ ]; const tagName = 'circle'; - + function createAttrs(row) { const attrs = { cx: row.x + row.dx, @@ -42,7 +42,7 @@ export default function Circle({ if (row.pointerEvents) attrs.pointerEvents = row.pointerEvents; return attrs; } - + return visUpdateSelection('hover', [d]); if (hover !== 'stay') { diff --git a/packages/ui/src/components/Plot/util/processAccessors.js b/packages/ui/src/components/Plot/util/processAccessors.js index be8890f2c..879978edb 100644 --- a/packages/ui/src/components/Plot/util/processAccessors.js +++ b/packages/ui/src/components/Plot/util/processAccessors.js @@ -6,17 +6,17 @@ import { scaleValue } from "./scaleValue"; const autoScaleChannels = new Set(['x', 'xx', 'width', 'y', 'yy', 'height']); export function processAccessors({ - markChannels, - accessors, - scales, - mapX, - mapY, - }) { + markChannels, + accessors, + scales, + mapX, + mapY, +}) { - const newAccessors = new Map(); + const newAccessors = new Map(); for (const channel of markChannels) { - + const acc = accessors[channel]; // channel omitted - use default value or ignore channel @@ -25,11 +25,11 @@ export function processAccessors({ if (value != null) { newAccessors.set(channel, value); } - - // constant channel + + // constant channel } else if (typeof acc === 'object' || - typeof acc === 'number' || - typeof acc === 'string') { + typeof acc === 'number' || + typeof acc === 'string') { let input, output; if (typeof acc === 'object') { ({ input, output } = acc); @@ -41,9 +41,9 @@ export function processAccessors({ if (!scaleChannels.has(channel)) { throw Error(`cannot use an 'input constant' for ${channel} channel`); } - value = scaleValue({ input, channel, scales, mapX, mapY}); + value = scaleValue({ input, channel, scales, mapX, mapY }); } - noInfiniteOrNaN(value); + noInfiniteOrNaN(value, channel); if (value == null) { value = channelDefaults[channel]; } @@ -51,12 +51,12 @@ export function processAccessors({ newAccessors.set(channel, value); } - // dynamic channel + // dynamic channel` } else if (typeof acc === 'function') { newAccessors.set(channel, acc); - // invalid accessor - } else { + // invalid accessor + } else { throw Error(`invalid accessor (channel: ${channel})`); } diff --git a/packages/ui/src/components/Plot/util/rowValues.js b/packages/ui/src/components/Plot/util/rowValues.js index bf1feb56f..9eb591bde 100644 --- a/packages/ui/src/components/Plot/util/rowValues.js +++ b/packages/ui/src/components/Plot/util/rowValues.js @@ -2,14 +2,14 @@ import { scaleValue } from "./scaleValue"; import { noInfiniteOrNaN } from "./assert"; export function rowValues({ - rowIndex, - rowData, - missing, - finalAccessors, - scales, - mapX, - mapY, - }) { + rowIndex, + rowData, + missing, + finalAccessors, + scales, + mapX, + mapY, +}) { const values = {}; From dcb09b711206f98b07aead4685fb5fec59aa001e Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Wed, 20 Nov 2024 13:46:10 +0000 Subject: [PATCH 038/120] [Platform]: stress test (#541) * fix: variant page query size variable * Using new locus API endpoint (add variantId filter argument) * add size variable to disease gwas widget * Update constants.js --- packages/sections/src/constants.js | 3 ++ .../credibleSet/Variants/VariantsQuery.gql | 4 +-- .../sections/src/disease/GWASStudies/Body.tsx | 3 +- .../disease/GWASStudies/GWASStudiesQuery.gql | 6 ++-- .../src/variant/GWASCredibleSets/Body.tsx | 28 ++++--------------- .../GWASCredibleSetsQuery.gql | 9 ++---- .../src/variant/InSilicoPredictors/Body.tsx | 3 +- .../InSilicoPredictorsQuery.gql | 2 +- .../src/variant/QTLCredibleSets/Body.tsx | 28 ++++--------------- .../QTLCredibleSets/QTLCredibleSetsQuery.gql | 9 ++---- 10 files changed, 31 insertions(+), 64 deletions(-) diff --git a/packages/sections/src/constants.js b/packages/sections/src/constants.js index 6aa97ee09..6cae006fc 100644 --- a/packages/sections/src/constants.js +++ b/packages/sections/src/constants.js @@ -8,6 +8,9 @@ export const appCanonicalUrl = "https://platform.opentargets.org"; export const tableChunkSize = 100; export const downloaderChunkSize = 2500; export const sectionsBaseSizeQuery = 3500; +export const sections5kSizeQuery = 5000; +export const sections7kSizeQuery = 7000; +export const sections10kSizeQuery = 10000; // NA label. export const naLabel = "N/A"; diff --git a/packages/sections/src/credibleSet/Variants/VariantsQuery.gql b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql index 2d15058a8..432e9c206 100644 --- a/packages/sections/src/credibleSet/Variants/VariantsQuery.gql +++ b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql @@ -1,7 +1,7 @@ query VariantsQuery($studyLocusIds: [String!]!) { credibleSets(studyLocusIds: $studyLocusIds) { studyLocusId - locus { + locus { logBF posteriorProbability variant { @@ -18,4 +18,4 @@ query VariantsQuery($studyLocusIds: [String!]!) { r2Overall } } -} \ No newline at end of file +} diff --git a/packages/sections/src/disease/GWASStudies/Body.tsx b/packages/sections/src/disease/GWASStudies/Body.tsx index ebf0fcf51..ba87625c9 100644 --- a/packages/sections/src/disease/GWASStudies/Body.tsx +++ b/packages/sections/src/disease/GWASStudies/Body.tsx @@ -2,7 +2,7 @@ import { useQuery } from "@apollo/client"; import { Box, Typography } from "@mui/material"; import { Link, SectionItem, Tooltip, PublicationsDrawer, OtTable } from "ui"; import Description from "./Description"; -import { naLabel } from "../../constants"; +import { naLabel, sectionsBaseSizeQuery } from "../../constants"; import { getStudyCategory } from "../../utils/getStudyCategory"; import GWAS_STUDIES_BODY_QUERY from "./GWASStudiesQuery.gql"; import { definition } from "."; @@ -111,6 +111,7 @@ type BodyProps = { function Body({ id: efoId, label: diseaseName }: BodyProps) { const variables = { diseaseIds: [efoId], + size: sectionsBaseSizeQuery, }; const request = useQuery(GWAS_STUDIES_BODY_QUERY, { diff --git a/packages/sections/src/disease/GWASStudies/GWASStudiesQuery.gql b/packages/sections/src/disease/GWASStudies/GWASStudiesQuery.gql index 9327af372..956bbaff9 100644 --- a/packages/sections/src/disease/GWASStudies/GWASStudiesQuery.gql +++ b/packages/sections/src/disease/GWASStudies/GWASStudiesQuery.gql @@ -1,5 +1,5 @@ -query GWASStudiesQuery($diseaseIds: [String!]!) { - gwasStudy(diseaseIds: $diseaseIds, page: { size: 2000, index: 0}) { +query GWASStudiesQuery($diseaseIds: [String!]!, $size: Int!) { + gwasStudy(diseaseIds: $diseaseIds, page: { size: $size, index: 0 }) { studyId projectId traitFromSource @@ -14,4 +14,4 @@ query GWASStudiesQuery($diseaseIds: [String!]!) { relativeSampleSize } } -} \ No newline at end of file +} diff --git a/packages/sections/src/variant/GWASCredibleSets/Body.tsx b/packages/sections/src/variant/GWASCredibleSets/Body.tsx index 1ce332f67..5ea988712 100644 --- a/packages/sections/src/variant/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/variant/GWASCredibleSets/Body.tsx @@ -10,7 +10,7 @@ import { OtScoreLinearBar, } from "ui"; import { Box, Chip } from "@mui/material"; -import { clinvarStarMap, naLabel } from "../../constants"; +import { clinvarStarMap, naLabel, sectionsBaseSizeQuery } from "../../constants"; import { definition } from "."; import Description from "./Description"; import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; @@ -23,15 +23,9 @@ type getColumnsType = { id: string; referenceAllele: string; alternateAllele: string; - posteriorProbabilities: any; }; -function getColumns({ - id, - referenceAllele, - alternateAllele, - posteriorProbabilities, -}: getColumnsType) { +function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { return [ { id: "studyLocusId", @@ -160,10 +154,10 @@ function getColumns({ ), comparator: (rowA, rowB) => - posteriorProbabilities.get(rowA.locus) - posteriorProbabilities.get(rowB.locus), + rowA.locus[0].posteriorProbability - rowB.locus[0].posteriorProbability, sortable: true, - renderCell: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3) ?? naLabel, - exportValue: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3), + renderCell: ({ locus }) => locus[0]?.posteriorProbability.toFixed(3) ?? naLabel, + exportValue: ({ locus }) => locus[0]?.posteriorProbability.toFixed(3), }, { id: "confidence", @@ -229,6 +223,7 @@ type BodyProps = { function Body({ id, entity }: BodyProps) { const variables = { variantId: id, + size: sectionsBaseSizeQuery, }; const request = useQuery(GWAS_CREDIBLE_SETS_QUERY, { @@ -248,16 +243,6 @@ function Body({ id, entity }: BodyProps) { /> )} renderBody={() => { - // get columns here so get posterior probabilities once - avoids - // having to find posterior probs inside sorting comparator function - const posteriorProbabilities = new Map(); - for (const { locus } of request.data?.variant?.credibleSets || []) { - const postProb = locus?.find(loc => loc.variant?.id === id)?.posteriorProbability; - if (postProb !== undefined) { - posteriorProbabilities.set(locus, postProb); - } - } - return ( ), comparator: (rowA, rowB) => - posteriorProbabilities.get(rowA.locus) - posteriorProbabilities.get(rowB.locus), + rowA.locus[0].posteriorProbability - rowB.locus[0].posteriorProbability, sortable: true, - renderCell: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3) ?? naLabel, - exportValue: ({ locus }) => posteriorProbabilities.get(locus)?.toFixed(3), + renderCell: ({ locus }) => locus[0]?.posteriorProbability.toFixed(3) ?? naLabel, + exportValue: ({ locus }) => locus[0]?.posteriorProbability.toFixed(3), }, { id: "confidence", @@ -208,6 +202,7 @@ type BodyProps = { function Body({ id, entity }: BodyProps): ReactNode { const variables = { variantId: id, + size: sectionsBaseSizeQuery, }; const request = useQuery(QTL_CREDIBLE_SETS_QUERY, { @@ -227,16 +222,6 @@ function Body({ id, entity }: BodyProps): ReactNode { /> )} renderBody={() => { - // get columns here so get posterior probabilities once - avoids - // having to find posterior probs inside sorting comparator function - const posteriorProbabilities = new Map(); - for (const { locus } of request.data?.variant?.credibleSets || []) { - const postProb = locus?.find(loc => loc.variant?.id === id)?.posteriorProbability; - if (postProb !== undefined) { - posteriorProbabilities.set(locus, postProb); - } - } - return ( Date: Fri, 22 Nov 2024 11:25:52 +0000 Subject: [PATCH 039/120] [Platform]: Update study page to reflect API changes (#546) --- .../src/study/GWASCredibleSets/Body.tsx | 10 ++--- .../GWASCredibleSetsQuery.gql | 41 ++++++++++--------- .../GWASCredibleSetsSummaryFragment.gql | 2 +- .../study/GWASCredibleSets/ManhattanPlot.tsx | 2 +- .../src/study/GWASCredibleSets/index.ts | 4 +- .../src/study/QTLCredibleSets/Body.tsx | 8 ++-- .../QTLCredibleSets/QTLCredibleSetsQuery.gql | 31 +++++++------- .../QTLCredibleSetsSummaryFragment.gql | 2 +- .../src/study/QTLCredibleSets/index.ts | 4 +- 9 files changed, 55 insertions(+), 49 deletions(-) diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx index fcefa8962..e5cc39d64 100644 --- a/packages/sections/src/study/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -108,11 +108,11 @@ const columns = [ { id: "credibleSetSize", label: "Credible set size", - comparator: (a, b) => a.locus?.length - b.locus?.length, + comparator: (a, b) => a.locus?.count - b.locus?.count, sortable: true, filterValue: false, - renderCell: ({ locus }) => locus?.length ?? naLabel, - exportValue: ({ locus }) => locus?.length, + renderCell: ({ locus }) => locus?.count ?? naLabel, + exportValue: ({ locus }) => locus?.count, }, ]; @@ -140,7 +140,7 @@ function Body({ id, entity }: BodyProps) { <> diff --git a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql index 4b709b7fd..c767c8d6e 100644 --- a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql +++ b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql @@ -2,27 +2,30 @@ query GWASCredibleSetsQuery($studyId: String!) { gwasStudy(studyId: $studyId) { studyId credibleSets(page: { size: 2000, index: 0 }) { - studyLocusId - variant { - id - chromosome - position - referenceAllele - alternateAllele - } - pValueMantissa - pValueExponent - beta - locus { - is95CredibleSet - } - finemappingMethod - l2Gpredictions(size: 1) { - target{ + count + rows { + studyLocusId + variant { id - approvedSymbol + chromosome + position + referenceAllele + alternateAllele + } + pValueMantissa + pValueExponent + beta + locus { + count + } + finemappingMethod + l2Gpredictions(size: 1) { + target{ + id + approvedSymbol + } + score } - score } } } diff --git a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql index b02663bc8..d61d85048 100644 --- a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql +++ b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql @@ -1,5 +1,5 @@ fragment GWASCredibleSetsSummaryFragment on Gwas { gwasCredibleSets: credibleSets(page: { size: 1, index: 0 }) { - beta + count } } \ No newline at end of file diff --git a/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx index 417acce52..bb107e860 100644 --- a/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx +++ b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx @@ -224,7 +224,7 @@ function Tooltip({ data }) { {data.l2Gpredictions?.[0].score.toFixed(3)} - {data.locus?.length ?? naLabel} + {data.locus?.count ?? naLabel} diff --git a/packages/sections/src/study/GWASCredibleSets/index.ts b/packages/sections/src/study/GWASCredibleSets/index.ts index 629cfaffe..02c993b8a 100644 --- a/packages/sections/src/study/GWASCredibleSets/index.ts +++ b/packages/sections/src/study/GWASCredibleSets/index.ts @@ -3,6 +3,6 @@ export const definition = { id, name: "GWAS Credible Sets", shortName: "GW", - hasData: data => data?.[0]?.gwasCredibleSets?.length > 0 || - data?.[0]?.credibleSets?.length > 0, + hasData: data => data?.[0]?.gwasCredibleSets?.count > 0 || + data?.[0]?.credibleSets?.count > 0, }; \ No newline at end of file diff --git a/packages/sections/src/study/QTLCredibleSets/Body.tsx b/packages/sections/src/study/QTLCredibleSets/Body.tsx index f22e321c7..e3806cae6 100644 --- a/packages/sections/src/study/QTLCredibleSets/Body.tsx +++ b/packages/sections/src/study/QTLCredibleSets/Body.tsx @@ -75,11 +75,11 @@ const columns = [ { id: "credibleSetSize", label: "Credible set size", - comparator: (a, b) => a.locus?.length - b.locus?.length, + comparator: (a, b) => a.locus?.count - b.locus?.count, sortable: true, filterValue: false, - renderCell: ({ locus }) => locus?.length ?? naLabel, - exportValue: ({ locus }) => locus?.length, + renderCell: ({ locus }) => locus?.count ?? naLabel, + exportValue: ({ locus }) => locus?.count, }, ]; @@ -110,7 +110,7 @@ function Body({ id, entity }: BodyProps) { sortBy="pValue" columns={columns} loading={request.loading} - rows={request.data?.gwasStudy[0].credibleSets} + rows={request.data?.gwasStudy[0].credibleSets.rows} query={QTL_CREDIBLE_SETS_QUERY.loc.source.body} variables={variables} /> diff --git a/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsQuery.gql b/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsQuery.gql index 63e961c7c..e61e64e39 100644 --- a/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsQuery.gql +++ b/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsQuery.gql @@ -2,21 +2,24 @@ query QTLCredibleSetsQuery($studyId: String!) { gwasStudy(studyId: $studyId) { studyId credibleSets(page: { size: 2000, index: 0 }) { - studyLocusId - variant { - id - chromosome - position - referenceAllele - alternateAllele + count + rows { + studyLocusId + variant { + id + chromosome + position + referenceAllele + alternateAllele + } + pValueMantissa + pValueExponent + beta + locus { + count + } + finemappingMethod } - pValueMantissa - pValueExponent - beta - locus { - is95CredibleSet - } - finemappingMethod } } } \ No newline at end of file diff --git a/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql b/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql index e506a012c..a7cd3c8ac 100644 --- a/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql +++ b/packages/sections/src/study/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql @@ -1,5 +1,5 @@ fragment QTLCredibleSetsSummaryFragment on Gwas { qtlCredibleSets: credibleSets(page: { size: 1, index: 0 }) { - beta + count } } \ No newline at end of file diff --git a/packages/sections/src/study/QTLCredibleSets/index.ts b/packages/sections/src/study/QTLCredibleSets/index.ts index ce0c7cdaa..710587472 100644 --- a/packages/sections/src/study/QTLCredibleSets/index.ts +++ b/packages/sections/src/study/QTLCredibleSets/index.ts @@ -3,6 +3,6 @@ export const definition = { id, name: "molQTL Credible Sets", shortName: "QT", - hasData: data => data?.[0]?.qtlCredibleSets?.length > 0 || - data?.[0]?.credibleSets?.length > 0, + hasData: data => data?.[0]?.qtlCredibleSets?.count > 0 || + data?.[0]?.credibleSets?.count > 0, }; \ No newline at end of file From 38f5de8eaf31390787800b531850d5e3fb494ea6 Mon Sep 17 00:00:00 2001 From: Graham McNeill Date: Fri, 22 Nov 2024 11:26:43 +0000 Subject: [PATCH 040/120] [Platform] Missing data fixes in Manhattan plot tooltip (#544) --- .../src/study/GWASCredibleSets/ManhattanPlot.tsx | 11 +++++++---- 1 file changed, 7 insertions(+), 4 deletions(-) diff --git a/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx index bb107e860..6ea11d518 100644 --- a/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx +++ b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx @@ -210,10 +210,10 @@ function Tooltip({ data }) { {data.finemappingMethod ?? naLabel} - {data.l2Gpredictions?.[0].target + {data.l2Gpredictions?.[0]?.target ? - - {data.l2Gpredictions?.[0].target.approvedSymbol} + + {data.l2Gpredictions[0].target.approvedSymbol} : @@ -221,7 +221,10 @@ function Tooltip({ data }) { } - {data.l2Gpredictions?.[0].score.toFixed(3)} + {data.l2Gpredictions?.[0]?.score != null + ? data.l2Gpredictions[0].score.toFixed(3) + : naLabel + } {data.locus?.count ?? naLabel} From 4c71e9919720d6934816ef81b61f0d5036c5e05c Mon Sep 17 00:00:00 2001 From: Carlos Cruz Date: Fri, 22 Nov 2024 12:23:10 +0000 Subject: [PATCH 041/120] [Platform]: variant page queries update (#548) Co-authored-by: Chintan Mehta --- .../src/variant/GWASCredibleSets/Body.tsx | 14 ++--- .../GWASCredibleSetsQuery.gql | 63 ++++++++++--------- .../GWASCredibleSetsSummaryFragment.gql | 9 +-- .../src/variant/GWASCredibleSets/index.ts | 3 +- .../src/variant/QTLCredibleSets/Body.tsx | 14 ++--- .../QTLCredibleSets/QTLCredibleSetsQuery.gql | 61 ++++++++++-------- .../QTLCredibleSetsSummaryFragment.gql | 10 +-- .../src/variant/QTLCredibleSets/index.ts | 5 +- 8 files changed, 94 insertions(+), 85 deletions(-) diff --git a/packages/sections/src/variant/GWASCredibleSets/Body.tsx b/packages/sections/src/variant/GWASCredibleSets/Body.tsx index 5ea988712..1779109f6 100644 --- a/packages/sections/src/variant/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/variant/GWASCredibleSets/Body.tsx @@ -154,10 +154,10 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { ), comparator: (rowA, rowB) => - rowA.locus[0].posteriorProbability - rowB.locus[0].posteriorProbability, + rowA.locus.rows[0].posteriorProbability - rowB.locus.rows[0].posteriorProbability, sortable: true, - renderCell: ({ locus }) => locus[0]?.posteriorProbability.toFixed(3) ?? naLabel, - exportValue: ({ locus }) => locus[0]?.posteriorProbability.toFixed(3), + renderCell: ({ locus }) => locus.rows[0]?.posteriorProbability.toFixed(3) ?? naLabel, + exportValue: ({ locus }) => locus.rows[0]?.posteriorProbability.toFixed(3), }, { id: "confidence", @@ -206,11 +206,11 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { { id: "credibleSetSize", label: "Credible set size", - comparator: (a, b) => a.locus?.length - b.locus?.length, + comparator: (a, b) => a.locus?.count - b.locus?.count, sortable: true, filterValue: false, - renderCell: ({ locus }) => locus?.length ?? naLabel, - exportValue: ({ locus }) => locus?.length, + renderCell: ({ locus }) => locus?.count ?? naLabel, + exportValue: ({ locus }) => locus?.count, }, ]; } @@ -254,7 +254,7 @@ function Body({ id, entity }: BodyProps) { referenceAllele: request.data?.variant.referenceAllele, alternateAllele: request.data?.variant.alternateAllele, })} - rows={request.data?.variant.credibleSets} + rows={request.data?.variant.gwasCredibleSets.rows} loading={request.loading} query={GWAS_CREDIBLE_SETS_QUERY.loc.source.body} variables={variables} diff --git a/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql index 54465bcd5..5499ce7c1 100644 --- a/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql +++ b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsQuery.gql @@ -3,38 +3,43 @@ query GWASCredibleSetsQuery($variantId: String!, $size: Int!) { id referenceAllele alternateAllele - credibleSets(studyTypes: [gwas], page: { size: $size, index: 0 }) { - studyLocusId - pValueMantissa - pValueExponent - beta - finemappingMethod - confidence - variant { - id - chromosome - position - referenceAllele - alternateAllele - } - study { - traitFromSource - studyId - diseases { - name + gwasCredibleSets: credibleSets(studyTypes: [gwas], page: { size: $size, index: 0 }) { + count + rows { + studyLocusId + pValueMantissa + pValueExponent + beta + finemappingMethod + confidence + variant { id + chromosome + position + referenceAllele + alternateAllele } - } - locus(variantIds: [$variantId]) { - r2Overall - posteriorProbability - } - l2Gpredictions(size: 1) { - target { - id - approvedSymbol + study { + traitFromSource + studyId + diseases { + name + id + } + } + locus(variantIds: [$variantId]) { + count + rows { + posteriorProbability + } + } + l2Gpredictions(size: 1) { + target { + id + approvedSymbol + } + score } - score } } } diff --git a/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql index bd87f01cb..fd8e2cb10 100644 --- a/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql +++ b/packages/sections/src/variant/GWASCredibleSets/GWASCredibleSetsSummaryFragment.gql @@ -1,8 +1,5 @@ fragment GWASCredibleSetsSummaryFragment on Variant { - gwasCredibleSets: credibleSets( - studyTypes: [gwas], - page: { size: 1, index: 0 } - ) { - studyLocusId + gwasCredibleSets: credibleSets(studyTypes: [gwas], page: { size: 1, index: 0 }) { + count } -} \ No newline at end of file +} diff --git a/packages/sections/src/variant/GWASCredibleSets/index.ts b/packages/sections/src/variant/GWASCredibleSets/index.ts index a619d1ec7..966e3507d 100644 --- a/packages/sections/src/variant/GWASCredibleSets/index.ts +++ b/packages/sections/src/variant/GWASCredibleSets/index.ts @@ -3,6 +3,5 @@ export const definition = { id, name: "GWAS Credible Sets", shortName: "GW", - hasData: data => data?.gwasCredibleSets?.length > 0 || - data?.credibleSets?.length > 0, + hasData: data => data?.gwasCredibleSets?.count > 0, }; diff --git a/packages/sections/src/variant/QTLCredibleSets/Body.tsx b/packages/sections/src/variant/QTLCredibleSets/Body.tsx index ab5943ff5..3daa5ebc3 100644 --- a/packages/sections/src/variant/QTLCredibleSets/Body.tsx +++ b/packages/sections/src/variant/QTLCredibleSets/Body.tsx @@ -159,10 +159,10 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { ), comparator: (rowA, rowB) => - rowA.locus[0].posteriorProbability - rowB.locus[0].posteriorProbability, + rowA.locus.rows[0].posteriorProbability - rowB.locus.rows[0].posteriorProbability, sortable: true, - renderCell: ({ locus }) => locus[0]?.posteriorProbability.toFixed(3) ?? naLabel, - exportValue: ({ locus }) => locus[0]?.posteriorProbability.toFixed(3), + renderCell: ({ locus }) => locus.rows[0]?.posteriorProbability.toFixed(3) ?? naLabel, + exportValue: ({ locus }) => locus.rows[0]?.posteriorProbability.toFixed(3), }, { id: "confidence", @@ -185,11 +185,11 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { { id: "credibleSetSize", label: "Credible set size", - comparator: (a, b) => a.locus?.length - b.locus?.length, + comparator: (a, b) => a.locus?.count - b.locus?.count, sortable: true, filterValue: false, - renderCell: ({ locus }) => locus?.length ?? naLabel, - exportValue: ({ locus }) => locus?.length, + renderCell: ({ locus }) => locus?.count ?? naLabel, + exportValue: ({ locus }) => locus?.count, }, ]; } @@ -232,7 +232,7 @@ function Body({ id, entity }: BodyProps): ReactNode { referenceAllele: request.data?.variant.referenceAllele, alternateAllele: request.data?.variant.alternateAllele, })} - rows={request.data?.variant.credibleSets} + rows={request.data?.variant.qtlCredibleSets.rows} loading={request.loading} query={QTL_CREDIBLE_SETS_QUERY.loc.source.body} variables={variables} diff --git a/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql index 21fa2fa6d..6f5f16d35 100644 --- a/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql +++ b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsQuery.gql @@ -3,36 +3,45 @@ query QTLCredibleSetsQuery($variantId: String!, $size: Int!) { id referenceAllele alternateAllele - credibleSets(studyTypes: [sqtl, pqtl, eqtl, tuqtl], page: { size: $size, index: 0 }) { - studyLocusId - pValueMantissa - pValueExponent - beta - finemappingMethod - confidence + qtlCredibleSets: credibleSets( + studyTypes: [sqtl, pqtl, eqtl, tuqtl] + page: { size: $size, index: 0 } + ) { + count + rows { + studyLocusId + pValueMantissa + pValueExponent + beta + finemappingMethod + confidence - variant { - id - chromosome - position - referenceAllele - alternateAllele - } - study { - studyId - studyType - condition - target { + variant { id - approvedSymbol + chromosome + position + referenceAllele + alternateAllele } - biosample { - biosampleId - biosampleName + study { + studyId + studyType + condition + target { + id + approvedSymbol + } + biosample { + biosampleId + biosampleName + } + } + locus(variantIds: [$variantId]) { + count + rows { + posteriorProbability + } } - } - locus(variantIds: [$variantId]) { - posteriorProbability } } } diff --git a/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql index 82901fce6..d517b547c 100644 --- a/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql +++ b/packages/sections/src/variant/QTLCredibleSets/QTLCredibleSetsSummaryFragment.gql @@ -1,8 +1,8 @@ fragment QTLCredibleSetsSummaryFragment on Variant { qtlCredibleSets: credibleSets( - studyTypes: [sqtl, pqtl, eqtl, tuqtl], - page: { size: 1, index: 0 } - ) { - studyLocusId + studyTypes: [sqtl, pqtl, eqtl, tuqtl] + page: { size: 1, index: 0 } + ) { + count } -} \ No newline at end of file +} diff --git a/packages/sections/src/variant/QTLCredibleSets/index.ts b/packages/sections/src/variant/QTLCredibleSets/index.ts index 3a9624e9e..599d76fe9 100644 --- a/packages/sections/src/variant/QTLCredibleSets/index.ts +++ b/packages/sections/src/variant/QTLCredibleSets/index.ts @@ -3,6 +3,5 @@ export const definition = { id, name: "molQTL Credible Sets", shortName: "QT", - hasData: data => data?.qtlCredibleSets?.length > 0 || - data?.credibleSets?.length > 0, -}; \ No newline at end of file + hasData: data => data?.qtlCredibleSets?.count > 0, +}; From e5bcd0cf7d0b364d1000355e4269f3dfff8695a1 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Fri, 22 Nov 2024 12:24:23 +0000 Subject: [PATCH 042/120] [Platform]: changes in labels (#545) * fix: not always s 99% * refactor: adding basepairs (bp) to distance columns * refactor: add finemapping confidence instead of confidence as column header * refactor: consistently use navigate for the credible set link column * refactor: use reported trait instead of trait from source * refactor: convert trait to reported trait (for consistency) * refactor: refer as disease/phenotype any time we talk about disease * refactor: clarify locus information as oppossed to credible set * refactor: always refer to Study not Study ID * refactor: refer to year instead of date when only showing publication year * refactor: refer to year instead of date when only showing publication year * refactor: refer as first author instead of just author * refactor: refer as fine-mapping not finemapping * refactor: refer as Variant not Variant ID * refactor: log bayes factor * refactor: clarify posterior probability * refactor: enhanced description for colocalisation widgets * refactor: missing first author occurrences * refactor: locus to gene widget description * refactor: locus to gene widget description v2 * refactor: credible set variants description added * refactor: credible set variants * refactor: typo * refactor: 95 percent labels --- .../src/pages/CredibleSetPage/ProfileHeader.tsx | 16 ++++++++-------- .../src/pages/StudyPage/ProfileHeader.tsx | 6 +++--- .../sections/src/credibleSet/GWASColoc/Body.tsx | 8 ++++---- .../src/credibleSet/GWASColoc/Description.tsx | 2 +- .../sections/src/credibleSet/GWASMolQTL/Body.tsx | 8 ++++---- .../src/credibleSet/GWASMolQTL/Description.tsx | 2 +- .../src/credibleSet/Locus2Gene/Description.tsx | 2 +- .../sections/src/credibleSet/Variants/Body.tsx | 6 +++--- .../src/credibleSet/Variants/Description.tsx | 2 +- .../sections/src/credibleSet/Variants/index.ts | 2 +- .../sections/src/disease/GWASStudies/Body.tsx | 8 ++++---- packages/sections/src/evidence/EVA/Body.jsx | 2 +- .../sections/src/evidence/EVASomatic/Body.jsx | 2 +- .../src/evidence/GWASCredibleSets/Body.jsx | 6 +++--- .../evidence/GWASCredibleSets/Description.jsx | 2 +- .../sections/src/evidence/OTGenetics/Body.jsx | 2 +- .../sections/src/study/GWASCredibleSets/Body.tsx | 4 ++-- .../src/study/GWASCredibleSets/Description.tsx | 2 +- .../src/study/GWASCredibleSets/ManhattanPlot.tsx | 2 +- .../sections/src/study/QTLCredibleSets/Body.tsx | 4 ++-- .../src/study/QTLCredibleSets/Description.tsx | 2 +- .../src/study/SharedTraitStudies/Body.tsx | 10 +++++----- .../src/variant/GWASCredibleSets/Body.tsx | 10 +++++----- .../src/variant/GWASCredibleSets/Description.tsx | 2 +- .../src/variant/QTLCredibleSets/Body.tsx | 8 ++++---- .../src/variant/QTLCredibleSets/Description.tsx | 2 +- .../src/variant/VariantEffectPredictor/Body.tsx | 4 ++-- 27 files changed, 63 insertions(+), 63 deletions(-) diff --git a/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx index 8f2bceada..1d8563632 100644 --- a/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx +++ b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx @@ -134,38 +134,38 @@ function ProfileHeader({ variantId }: ProfileHeaderProps) { } Credible Set - + {credibleSet?.finemappingMethod} - + {credibleSet?.credibleSetIndex} {credibleSet?.purityMinR2?.toPrecision(3)} - + {credibleSet?.locusStart} - + {credibleSet?.locusEnd} Study - + {study?.publicationFirstAuthor} - + {study?.publicationDate?.slice(0, 4)} {studyCategory !== "QTL" && <> - + {study?.traitFromSource} {study?.diseases?.length > 0 && - + {study.diseases.map(({ id, name }, index) => ( {index > 0 ? ", " : null} diff --git a/apps/platform/src/pages/StudyPage/ProfileHeader.tsx b/apps/platform/src/pages/StudyPage/ProfileHeader.tsx index 0e3ba779e..18e821b65 100644 --- a/apps/platform/src/pages/StudyPage/ProfileHeader.tsx +++ b/apps/platform/src/pages/StudyPage/ProfileHeader.tsx @@ -51,14 +51,14 @@ function ProfileHeader({ studyCategory }: ProfileHeaderProps) { return ( <> - + { studyCategory === "GWAS" || studyCategory === "QTL" ? publicationFirstAuthor : "FINNGEN" } - + { studyCategory === "GWAS" || studyCategory === "QTL" ? publicationDate @@ -80,7 +80,7 @@ function ProfileHeader({ studyCategory }: ProfileHeaderProps) { : null } - + {traitFromSource} diff --git a/packages/sections/src/credibleSet/GWASColoc/Body.tsx b/packages/sections/src/credibleSet/GWASColoc/Body.tsx index 401811daf..85f764f06 100644 --- a/packages/sections/src/credibleSet/GWASColoc/Body.tsx +++ b/packages/sections/src/credibleSet/GWASColoc/Body.tsx @@ -10,7 +10,7 @@ import { getStudyCategory } from "../../utils/getStudyCategory"; const columns = [ { id: "view", - label: "Details", + label: "Navigate", renderCell: ({ otherStudyLocus }) => { if (!otherStudyLocus) return naLabel; return view; @@ -20,7 +20,7 @@ const columns = [ }, { id: "otherStudyLocus.study.studyId", - label: "Study ID", + label: "Study", renderCell: ({ otherStudyLocus }) => { const studyId = otherStudyLocus?.study?.studyId; if (!studyId) return naLabel; @@ -29,7 +29,7 @@ const columns = [ }, { id: "otherStudyLocus.study.traitFromSource", - label: "Trait", + label: "Reported trait", renderCell: ({ otherStudyLocus }) => { const trait = otherStudyLocus?.study?.traitFromSource; if (!trait) return naLabel; @@ -38,7 +38,7 @@ const columns = [ }, { id: "otherStudyLocus.study.publicationFirstAuthor", - label: "Author", + label: "First author", renderCell: ({ otherStudyLocus }) => { const { projectId, publicationFirstAuthor } = otherStudyLocus?.study || {}; return getStudyCategory(projectId) === "FINNGEN" diff --git a/packages/sections/src/credibleSet/GWASColoc/Description.tsx b/packages/sections/src/credibleSet/GWASColoc/Description.tsx index 7ffb70ecf..53a88e985 100644 --- a/packages/sections/src/credibleSet/GWASColoc/Description.tsx +++ b/packages/sections/src/credibleSet/GWASColoc/Description.tsx @@ -3,7 +3,7 @@ import { Link } from "ui"; function Description() { return ( <> - GWAS studies that colocalise with this credible set. Source:{" "} + Colocalisation metrics for overlapping credible sets from GWAS studies. Source:{" "} Open Targets diff --git a/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx index 0de17ba85..4dcf0b45b 100644 --- a/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx +++ b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx @@ -10,7 +10,7 @@ import { getStudyCategory } from "../../utils/getStudyCategory"; const columns = [ { id: "view", - label: "Details", + label: "Navigate", renderCell: ({ otherStudyLocus }) => { if (!otherStudyLocus) return naLabel; return view; @@ -29,7 +29,7 @@ const columns = [ }, { id: "otherStudyLocus.study.studyId", - label: "Study ID", + label: "Study", renderCell: ({ otherStudyLocus }) => { const studyId = otherStudyLocus?.study?.studyId; if (!studyId) return naLabel; @@ -38,7 +38,7 @@ const columns = [ }, { id: "otherStudyLocus.study.traitFromSource", - label: "Trait", + label: "Reported trait", renderCell: ({ otherStudyLocus }) => { const trait = otherStudyLocus?.study?.traitFromSource; if (!trait) return naLabel; @@ -47,7 +47,7 @@ const columns = [ }, { id: "otherStudyLocus.study.publicationFirstAuthor", - label: "Author", + label: "First author", renderCell: ({ otherStudyLocus }) => { const { projectId, publicationFirstAuthor } = otherStudyLocus?.study || {}; return getStudyCategory(projectId) === "FINNGEN" diff --git a/packages/sections/src/credibleSet/GWASMolQTL/Description.tsx b/packages/sections/src/credibleSet/GWASMolQTL/Description.tsx index 7ffb70ecf..731d474ce 100644 --- a/packages/sections/src/credibleSet/GWASMolQTL/Description.tsx +++ b/packages/sections/src/credibleSet/GWASMolQTL/Description.tsx @@ -3,7 +3,7 @@ import { Link } from "ui"; function Description() { return ( <> - GWAS studies that colocalise with this credible set. Source:{" "} + Colocalisation metrics for overlapping credible sets from molecular QTL studies. Source:{" "} Open Targets diff --git a/packages/sections/src/credibleSet/Locus2Gene/Description.tsx b/packages/sections/src/credibleSet/Locus2Gene/Description.tsx index f31aed91f..4bdaab04c 100644 --- a/packages/sections/src/credibleSet/Locus2Gene/Description.tsx +++ b/packages/sections/src/credibleSet/Locus2Gene/Description.tsx @@ -4,7 +4,7 @@ import { Link } from "ui"; function Description(): ReactElement { return ( <> - Genes prioritised by the L2G pipelines within this credible set. Source:{" "} + Gene assignment based on machine-learning prioritisation of credible set features. Source:{" "} Open Targets ); diff --git a/packages/sections/src/credibleSet/Variants/Body.tsx b/packages/sections/src/credibleSet/Variants/Body.tsx index 1b5e4aa59..0b3938a93 100644 --- a/packages/sections/src/credibleSet/Variants/Body.tsx +++ b/packages/sections/src/credibleSet/Variants/Body.tsx @@ -17,7 +17,7 @@ function getColumns({ leadVariantId, leadReferenceAllele, leadAlternateAllele }: return [ { id: "variant.id", - label: "Variant ID", + label: "Variant", comparator: variantComparator, sortable: true, filterValue: ({ variant: v }) => @@ -115,7 +115,7 @@ function getColumns({ leadVariantId, leadReferenceAllele, leadAlternateAllele }: id: "posteriorProbability", label: "Posterior Probability", filterValue: false, - tooltip: "Posterior inclusion probability from fine-mapping that this variant is causal", + tooltip: "Posterior inclusion probability that this variant is causal within the fine-mapped credible set", comparator: (rowA, rowB) => rowA?.posteriorProbability - rowB?.posteriorProbability, sortable: true, renderCell: ({ posteriorProbability }) => { @@ -125,7 +125,7 @@ function getColumns({ leadVariantId, leadReferenceAllele, leadAlternateAllele }: }, { id: "logBF", - label: "LOG(BF)", + label: "log(Bayes Factor)", filterValue: false, renderCell: ({ logBF }) => { if (typeof logBF !== "number") return naLabel; diff --git a/packages/sections/src/credibleSet/Variants/Description.tsx b/packages/sections/src/credibleSet/Variants/Description.tsx index 7c1b8f69a..e6ad68d06 100644 --- a/packages/sections/src/credibleSet/Variants/Description.tsx +++ b/packages/sections/src/credibleSet/Variants/Description.tsx @@ -3,7 +3,7 @@ import { Link } from "ui"; function Description() { return ( <> - Source:{" "} + Set of variants with 95% probability of containing the causal variant. Source:{" "} Open Targets diff --git a/packages/sections/src/credibleSet/Variants/index.ts b/packages/sections/src/credibleSet/Variants/index.ts index cf5933ced..df06aa298 100644 --- a/packages/sections/src/credibleSet/Variants/index.ts +++ b/packages/sections/src/credibleSet/Variants/index.ts @@ -1,7 +1,7 @@ const id = "variants"; export const definition = { id, - name: "Variants in Credible Set", + name: "Credible Set Variants", shortName: "VA", hasData: data => data?.[0]?.locus?.length > 0, }; \ No newline at end of file diff --git a/packages/sections/src/disease/GWASStudies/Body.tsx b/packages/sections/src/disease/GWASStudies/Body.tsx index ba87625c9..269fd3997 100644 --- a/packages/sections/src/disease/GWASStudies/Body.tsx +++ b/packages/sections/src/disease/GWASStudies/Body.tsx @@ -11,22 +11,22 @@ import { epmcUrl } from "ui/src/utils/urls"; const columns = [ { id: "studyId", - label: "Study ID", + label: "Study", renderCell: ({ studyId }) => {studyId}, }, { id: "traitFromSource", - label: "Trait from source", + label: "Reported trait", }, { id: "publicationFirstAuthor", - label: "Author", + label: "First author", renderCell: ({ projectId, publicationFirstAuthor }) => getStudyCategory(projectId) === "FINNGEN" ? "FinnGen" : publicationFirstAuthor || naLabel, }, { id: "publicationDate", - label: "Date", + label: "Year", renderCell: ({ projectId, publicationDate }) => getStudyCategory(projectId) === "FINNGEN" ? "2023" diff --git a/packages/sections/src/evidence/EVA/Body.jsx b/packages/sections/src/evidence/EVA/Body.jsx index d6010a747..90d7b80da 100644 --- a/packages/sections/src/evidence/EVA/Body.jsx +++ b/packages/sections/src/evidence/EVA/Body.jsx @@ -109,7 +109,7 @@ function getColumns(label) { }, { id: "variantId", - label: "Variant ID", + label: "Variant", renderCell: ({ variantId }) => // trim long IDs and append '...' variantId ? ( diff --git a/packages/sections/src/evidence/EVASomatic/Body.jsx b/packages/sections/src/evidence/EVASomatic/Body.jsx index f1770c898..4ed44712f 100644 --- a/packages/sections/src/evidence/EVASomatic/Body.jsx +++ b/packages/sections/src/evidence/EVASomatic/Body.jsx @@ -65,7 +65,7 @@ const getColumns = label => [ }, { id: "variantId", - label: "Variant ID", + label: "Variant", renderCell: ({ variantId }) => variantId ? ( <> diff --git a/packages/sections/src/evidence/GWASCredibleSets/Body.jsx b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx index 80eef3902..c1e44ede2 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/Body.jsx +++ b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx @@ -47,7 +47,7 @@ function getColumns() { }, { id: "trait", - label: "Trait", + label: "Reported trait", renderCell: ({ credibleSet }) => credibleSet?.study.traitFromSource, }, { @@ -58,7 +58,7 @@ function getColumns() { }, { id: "study", - label: "Study Id", + label: "Study", renderCell: ({ credibleSet }) => { return ( {credibleSet?.study.studyId} @@ -111,7 +111,7 @@ function getColumns() { }, { id: "confidence", - label: "Confidence", + label: "Fine-mapping confidence", sortable: true, renderCell: ({ credibleSet }) => { if (!credibleSet?.confidence) return naLabel; diff --git a/packages/sections/src/evidence/GWASCredibleSets/Description.jsx b/packages/sections/src/evidence/GWASCredibleSets/Description.jsx index a6da91b9a..5f22339a4 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/Description.jsx +++ b/packages/sections/src/evidence/GWASCredibleSets/Description.jsx @@ -4,7 +4,7 @@ import config from "../../config"; function Description({ symbol, name }) { return ( <> - Genome-wide associated loci prioritisating {symbol} as likely causal gene for{" "} + 95% GWAS credible sets prioritisating {symbol} as likely causal gene for{" "} {name}. Source:{" "} Open Targets Genetics diff --git a/packages/sections/src/evidence/OTGenetics/Body.jsx b/packages/sections/src/evidence/OTGenetics/Body.jsx index 88ffd4062..822a72b0c 100644 --- a/packages/sections/src/evidence/OTGenetics/Body.jsx +++ b/packages/sections/src/evidence/OTGenetics/Body.jsx @@ -78,7 +78,7 @@ function getColumns(label) { }, { id: "variantId", - label: "Variant ID (RSID)", + label: "Variant (RSID)", renderCell: ({ variantId, variantRsId }) => ( <> {variantId ? ( diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx index e5cc39d64..8f65cde4d 100644 --- a/packages/sections/src/study/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -16,7 +16,7 @@ import ManhattanPlot from "./ManhattanPlot"; const columns = [ { id: "view", - label: "Details", + label: "Navigate", renderCell: ({ studyLocusId }) => view, filterValue: false, exportValue: false, @@ -78,7 +78,7 @@ const columns = [ { id: "finemappingMethod", - label: "Finemapping method", + label: "Fine-mapping method", }, { id: "TopL2G", diff --git a/packages/sections/src/study/GWASCredibleSets/Description.tsx b/packages/sections/src/study/GWASCredibleSets/Description.tsx index da9015632..2d6b88112 100644 --- a/packages/sections/src/study/GWASCredibleSets/Description.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Description.tsx @@ -7,7 +7,7 @@ type DescriptionProps = { function Description({ studyId }: DescriptionProps) { return ( <> - GWAS 99% credible sets associated with study {" "} + 95% GWAS credible sets associated with study {" "} {studyId}. Source{" "} Open Targets diff --git a/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx index 6ea11d518..a1bb360e8 100644 --- a/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx +++ b/packages/sections/src/study/GWASCredibleSets/ManhattanPlot.tsx @@ -207,7 +207,7 @@ function Tooltip({ data }) { {data.beta?.toFixed(3) ?? naLabel} - + {data.finemappingMethod ?? naLabel} {data.l2Gpredictions?.[0]?.target diff --git a/packages/sections/src/study/QTLCredibleSets/Body.tsx b/packages/sections/src/study/QTLCredibleSets/Body.tsx index e3806cae6..a00e7a7a0 100644 --- a/packages/sections/src/study/QTLCredibleSets/Body.tsx +++ b/packages/sections/src/study/QTLCredibleSets/Body.tsx @@ -9,7 +9,7 @@ import { mantissaExponentComparator, variantComparator } from "../../utils/compa const columns = [ { id: "view", - label: "Details", + label: "Navigate", renderCell: ({ studyLocusId }) => view, filterValue: false, exportValue: false, @@ -70,7 +70,7 @@ const columns = [ }, { id: "finemappingMethod", - label: "Finemapping method", + label: "Fine-mapping method", }, { id: "credibleSetSize", diff --git a/packages/sections/src/study/QTLCredibleSets/Description.tsx b/packages/sections/src/study/QTLCredibleSets/Description.tsx index 5046189fe..dd1e11266 100644 --- a/packages/sections/src/study/QTLCredibleSets/Description.tsx +++ b/packages/sections/src/study/QTLCredibleSets/Description.tsx @@ -7,7 +7,7 @@ type DescriptionProps = { function Description({ studyId }: DescriptionProps) { return ( <> - molQTL 99% credible sets associated with study{" "} + molQTL credible sets associated with study{" "} {studyId}. Source{" "} eQTL Catalog diff --git a/packages/sections/src/study/SharedTraitStudies/Body.tsx b/packages/sections/src/study/SharedTraitStudies/Body.tsx index db2f3afb2..e208a2744 100644 --- a/packages/sections/src/study/SharedTraitStudies/Body.tsx +++ b/packages/sections/src/study/SharedTraitStudies/Body.tsx @@ -14,12 +14,12 @@ function getColumns(diseaseIds: string[]) { return [ { id: "studyId", - label: "Study ID", + label: "Study", renderCell: ({ studyId }) => {studyId}, }, { id: "sharedDiseases", - label: "Shared traits", + label: "Shared disease/phenotype", renderCell: ({ diseases }) => { const sharedTraits = diseases.filter(d => diseaseIdsSet.has(d.id)); return ( @@ -41,11 +41,11 @@ function getColumns(diseaseIds: string[]) { }, { id: "traitFromSource", - label: "Trait from source", + label: "Reported trait", }, { id: "author", - label: "Author", + label: "First author", renderCell: ({ projectId, publicationFirstAuthor }) => getStudyCategory(projectId) === "FINNGEN" ? "FinnGen" : publicationFirstAuthor || naLabel, exportValue: ({ projectId, publicationFirstAuthor }) => @@ -53,7 +53,7 @@ function getColumns(diseaseIds: string[]) { }, { id: "publicationDate", - label: "Date", + label: "Year", renderCell: ({ projectId, publicationDate }) => getStudyCategory(projectId) === "FINNGEN" ? "2023" diff --git a/packages/sections/src/variant/GWASCredibleSets/Body.tsx b/packages/sections/src/variant/GWASCredibleSets/Body.tsx index 1779109f6..c7970476a 100644 --- a/packages/sections/src/variant/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/variant/GWASCredibleSets/Body.tsx @@ -70,7 +70,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { }, { id: "trait", - label: "Trait", + label: "Reported trait", filterValue: ({ study }) => study?.traitFromSource, renderCell: ({ study }) => { if (!study?.traitFromSource) return naLabel; @@ -80,7 +80,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { }, { id: "disease", - label: "Diseases", + label: "Disease/phenotype", filterValue: ({ study }) => study?.diseases.map(d => d.name).join(", "), renderCell: ({ study }) => { if (!study?.diseases?.length) return naLabel; @@ -99,7 +99,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { }, { id: "study.studyId", - label: "Study ID", + label: "Study", renderCell: ({ study }) => { if (!study) return naLabel; return {study.studyId}; @@ -161,7 +161,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { }, { id: "confidence", - label: "Confidence", + label: "Fine-mapping confidence", sortable: true, renderCell: ({ confidence }) => { if (!confidence) return naLabel; @@ -175,7 +175,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { }, { id: "finemappingMethod", - label: "Finemapping method", + label: "Fine-mapping method", }, { id: "topL2G", diff --git a/packages/sections/src/variant/GWASCredibleSets/Description.tsx b/packages/sections/src/variant/GWASCredibleSets/Description.tsx index fc1ffc060..985d58e7c 100644 --- a/packages/sections/src/variant/GWASCredibleSets/Description.tsx +++ b/packages/sections/src/variant/GWASCredibleSets/Description.tsx @@ -9,7 +9,7 @@ type DescriptionProps = { function Description({ variantId, referenceAllele, alternateAllele }: DescriptionProps) { return ( <> - GWAS 99% credible sets containing{" "} + 95% credible sets associated with complex traits containing{" "} ( {studyLocusId} ), @@ -63,7 +63,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { }, { id: "study.studyId", - label: "Study ID", + label: "Study", renderCell: ({ study }) => { if (!study) return naLabel; return {study.studyId}; @@ -166,7 +166,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { }, { id: "confidence", - label: "Confidence", + label: "Fine-mapping confidence", sortable: true, renderCell: ({ confidence }) => { if (!confidence) return naLabel; @@ -180,7 +180,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { }, { id: "finemappingMethod", - label: "Finemapping method", + label: "Fine-mapping method", }, { id: "credibleSetSize", diff --git a/packages/sections/src/variant/QTLCredibleSets/Description.tsx b/packages/sections/src/variant/QTLCredibleSets/Description.tsx index 6fc754ac4..014b09642 100644 --- a/packages/sections/src/variant/QTLCredibleSets/Description.tsx +++ b/packages/sections/src/variant/QTLCredibleSets/Description.tsx @@ -14,7 +14,7 @@ function Description({ }: DescriptionProps): ReactElement { return ( <> - molQTL 99% credible sets containing{" "} + 95% credible sets fine-mapped from quantitative trait loci associated with molecular traits containing{" "} @@ -146,7 +146,7 @@ const columns = [ }, { id: "distanceFromTss", - label: "Distance from start site", + label: "Distance from start site (bp)", numeric: true, sortable: true, renderCell: ({ distanceFromTss }) => From 427ccae88b20cd502ace1ca446ad6beb0f71d569 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Fri, 22 Nov 2024 12:25:12 +0000 Subject: [PATCH 043/120] [Platform]: reorder study page widgets (#547) --- apps/platform/src/pages/StudyPage/Profile.tsx | 6 +++--- 1 file changed, 3 insertions(+), 3 deletions(-) diff --git a/apps/platform/src/pages/StudyPage/Profile.tsx b/apps/platform/src/pages/StudyPage/Profile.tsx index fc69dc820..bd94f3e91 100644 --- a/apps/platform/src/pages/StudyPage/Profile.tsx +++ b/apps/platform/src/pages/StudyPage/Profile.tsx @@ -73,8 +73,8 @@ function Profile({ studyId, studyType, diseases }: ProfileProps) { {studyType === "gwas" && ( <> - + )} {studyType !== "gwas" && } @@ -84,10 +84,10 @@ function Profile({ studyId, studyType, diseases }: ProfileProps) { {studyType === "gwas" && ( <> }> - + }> - + )} From bb469ada284d3dff400fbd747ca1806dfae2293d Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Fri, 22 Nov 2024 12:47:25 +0000 Subject: [PATCH 044/120] [Platform]: Credible-set page queries fix (#549) * variant page query update * credible sets query fix --- .../pages/CredibleSetPage/CredibleSetPage.gql | 4 +- .../pages/CredibleSetPage/CredibleSetPage.tsx | 6 +- .../src/pages/CredibleSetPage/Profile.tsx | 8 +- .../pages/CredibleSetPage/ProfileHeader.gql | 18 +-- .../pages/CredibleSetPage/ProfileHeader.tsx | 127 +++++++++--------- .../src/credibleSet/GWASColoc/Body.tsx | 4 +- .../credibleSet/GWASColoc/GWASColocQuery.gql | 6 +- .../src/credibleSet/GWASColoc/index.ts | 4 +- .../src/credibleSet/GWASMolQTL/Body.tsx | 4 +- .../GWASMolQTL/GWASMolQTLColocQuery.gql | 4 +- .../src/credibleSet/GWASMolQTL/index.ts | 2 +- .../src/credibleSet/Locus2Gene/Body.tsx | 4 +- .../Locus2Gene/Locus2GeneQuery.gql | 4 +- .../src/credibleSet/Locus2Gene/index.ts | 2 +- .../src/credibleSet/Variants/Body.tsx | 5 +- .../credibleSet/Variants/VariantsQuery.gql | 35 ++--- .../Variants/VariantsSummaryFragment.gql | 6 +- .../src/credibleSet/Variants/index.ts | 4 +- 18 files changed, 124 insertions(+), 123 deletions(-) diff --git a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql index 335ca68b0..b8fd51ee9 100644 --- a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql +++ b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.gql @@ -1,5 +1,5 @@ -query CredibleSetPageQuery($studyLocusIds: [String!]!) { - credibleSets(studyLocusIds: $studyLocusIds) { +query CredibleSetPageQuery($studyLocusId: String!) { + credibleSet(studyLocusId: $studyLocusId) { variant { id referenceAllele diff --git a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx index e90641f10..7ac373d22 100644 --- a/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx +++ b/apps/platform/src/pages/CredibleSetPage/CredibleSetPage.tsx @@ -13,14 +13,14 @@ function CredibleSetPage() { const { path } = useRouteMatch(); const { loading, data } = useQuery(CREDIBLE_SET_PAGE_QUERY, { - variables: { studyLocusIds: [studyLocusId] }, + variables: { studyLocusId: studyLocusId }, }); - if (data && !data?.credibleSets.length) { + if (data && !data?.credibleSet) { return ; } - const credibleSet = data?.credibleSets[0]; + const credibleSet = data?.credibleSet; const variantId = credibleSet?.variant?.id; const referenceAllele = credibleSet?.variant?.referenceAllele; const alternateAllele = credibleSet?.variant?.alternateAllele; diff --git a/apps/platform/src/pages/CredibleSetPage/Profile.tsx b/apps/platform/src/pages/CredibleSetPage/Profile.tsx index 26178d0a2..d53fbca6b 100644 --- a/apps/platform/src/pages/CredibleSetPage/Profile.tsx +++ b/apps/platform/src/pages/CredibleSetPage/Profile.tsx @@ -22,7 +22,7 @@ const GWASColocSection = lazy(() => import("sections/src/credibleSet/GWASColoc/B const Locus2GeneSection = lazy(() => import("sections/src/credibleSet/Locus2Gene/Body")); -const CREDIBLE_SET = "credibleSets"; +const CREDIBLE_SET = "credibleSet"; const createProfileQuery = (studyType: string) => { const summaries = [VariantsSummary, Locus2GeneSummary]; @@ -40,8 +40,8 @@ const createProfileQuery = (studyType: string) => { ); const CREDIBLE_SET_PROFILE_QUERY = gql` - query CredibleSetProfileQuery($studyLocusIds: [String!]!) { - credibleSets(studyLocusIds: $studyLocusIds) { + query CredibleSetProfileQuery($studyLocusId: String!, $variantIds: [String!]!) { + credibleSet(studyLocusId: $studyLocusId) { studyLocusId ...CredibleSetProfileHeaderFragment ...CredibleSetProfileSummaryFragment @@ -65,7 +65,7 @@ function Profile({ diff --git a/apps/platform/src/pages/CredibleSetPage/ProfileHeader.gql b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.gql index b4461e25e..9d3f09c7f 100644 --- a/apps/platform/src/pages/CredibleSetPage/ProfileHeader.gql +++ b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.gql @@ -4,14 +4,14 @@ fragment CredibleSetProfileHeaderFragment on credibleSet { beta standardError effectAlleleFrequencyFromSource - locus { - posteriorProbability - pValueMantissa - pValueExponent - beta - standardError - variant { - id + locus(variantIds: $variantIds) { + count + rows { + posteriorProbability + pValueMantissa + pValueExponent + beta + standardError } } variant { @@ -44,4 +44,4 @@ fragment CredibleSetProfileHeaderFragment on credibleSet { pubmedId nSamples } -} \ No newline at end of file +} diff --git a/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx index 1d8563632..86673765c 100644 --- a/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx +++ b/apps/platform/src/pages/CredibleSetPage/ProfileHeader.tsx @@ -18,17 +18,16 @@ type ProfileHeaderProps = { }; function ProfileHeader({ variantId }: ProfileHeaderProps) { - const { loading, error, data } = usePlatformApi(); // TODO: Errors! if (error) return null; - const credibleSet = data?.credibleSets?.[0]; + const credibleSet = data?.credibleSet; const study = credibleSet?.study; const studyCategory = study ? getStudyCategory(study.projectId) : null; const target = study?.target; - const leadVariant = credibleSet?.locus?.find(loc => loc?.variant.id === variantId); + const leadVariant = credibleSet?.locus.rows[0]; const beta = leadVariant?.beta ?? credibleSet?.beta; const standardError = leadVariant?.standardError ?? credibleSet?.standardError; const { pValueMantissa, pValueExponent } = @@ -39,23 +38,22 @@ function ProfileHeader({ variantId }: ProfileHeaderProps) { return ( - - Lead Variant - {typeof pValueMantissa === "number" && typeof pValueExponent === "number" && + + Lead Variant + + {typeof pValueMantissa === "number" && typeof pValueExponent === "number" && ( - } - {typeof beta === 'number' && + )} + {typeof beta === "number" && ( - Beta with respect to the ALT allele - + Beta with respect to the ALT allele } showHelpIcon > @@ -65,15 +63,16 @@ function ProfileHeader({ variantId }: ProfileHeaderProps) { > {beta.toPrecision(3)} - } - {typeof standardError === 'number' && + )} + {typeof standardError === "number" && ( - Standard error: Estimate of the standard deviation of the sampling distribution of the beta + Standard error: Estimate of the standard deviation of the sampling distribution + of the beta } showHelpIcon @@ -84,13 +83,13 @@ function ProfileHeader({ variantId }: ProfileHeaderProps) { > {standardError.toPrecision(3)} - } - {typeof credibleSet?.effectAlleleFrequencyFromSource === "number" && + )} + {typeof credibleSet?.effectAlleleFrequencyFromSource === "number" && ( {credibleSet.effectAlleleFrequencyFromSource.toPrecision(3)} - } - {typeof leadVariant?.posteriorProbability === "number" && + )} + {typeof leadVariant?.posteriorProbability === "number" && ( {leadVariant.posteriorProbability.toPrecision(3)} - } + )} {credibleSet?.variant && - `${credibleSet.variant.chromosome}:${credibleSet.variant.position}` - } + `${credibleSet.variant.chromosome}:${credibleSet.variant.position}`} - { - credibleSet?.variant?.rsIds.length > 0 && - - { - credibleSet.variant.rsIds.map((rsid, index) => ( - - {index > 0 && ", "} - - {rsid} - - - )) - } - - } + {credibleSet?.variant?.rsIds.length > 0 && ( + + {credibleSet.variant.rsIds.map((rsid, index) => ( + + {index > 0 && ", "} + + {rsid} + + + ))} + + )} - Credible Set - + + Credible Set + + {credibleSet?.finemappingMethod} @@ -152,20 +149,22 @@ function ProfileHeader({ variantId }: ProfileHeaderProps) { - Study - + + Study + + {study?.publicationFirstAuthor} {study?.publicationDate?.slice(0, 4)} - {studyCategory !== "QTL" && + {studyCategory !== "QTL" && ( <> {study?.traitFromSource} - {study?.diseases?.length > 0 && - + {study?.diseases?.length > 0 && ( + {study.diseases.map(({ id, name }, index) => ( {index > 0 ? ", " : null} @@ -173,44 +172,42 @@ function ProfileHeader({ variantId }: ProfileHeaderProps) { ))} - } + )} - } - {studyCategory === "QTL" && + )} + {studyCategory === "QTL" && ( <> - {target?.id && + {target?.id && ( - - {target.approvedSymbol} - + {target.approvedSymbol} - } - { study?.biosample?.biosampleId && + )} + {study?.biosample?.biosampleId && ( - + {study.biosample.biosampleId} - } + )} - } + )} {study?.publicationJournal} - {study?.pubmedId && + {study?.pubmedId && ( - + {study.pubmedId} - } + )} {study?.nSamples} - ); } @@ -219,4 +216,4 @@ ProfileHeader.fragments = { profileHeader: CREDIBLE_SET_PROFILE_HEADER_FRAGMENT, }; -export default ProfileHeader; \ No newline at end of file +export default ProfileHeader; diff --git a/packages/sections/src/credibleSet/GWASColoc/Body.tsx b/packages/sections/src/credibleSet/GWASColoc/Body.tsx index 85f764f06..e136e5e83 100644 --- a/packages/sections/src/credibleSet/GWASColoc/Body.tsx +++ b/packages/sections/src/credibleSet/GWASColoc/Body.tsx @@ -157,7 +157,7 @@ type BodyProps = { function Body({ studyLocusId, entity }: BodyProps) { const variables = { - studyLocusIds: [studyLocusId], + studyLocusId: studyLocusId, }; const request = useQuery(GWAS_COLOC_QUERY, { @@ -180,7 +180,7 @@ function Body({ studyLocusId, entity }: BodyProps) { order="asc" columns={columns} loading={request.loading} - rows={request.data?.credibleSets[0].colocalisation} + rows={request.data?.credibleSet.colocalisation} query={GWAS_COLOC_QUERY.loc.source.body} variables={variables} /> diff --git a/packages/sections/src/credibleSet/GWASColoc/GWASColocQuery.gql b/packages/sections/src/credibleSet/GWASColoc/GWASColocQuery.gql index 40cb68f29..a87c86d57 100644 --- a/packages/sections/src/credibleSet/GWASColoc/GWASColocQuery.gql +++ b/packages/sections/src/credibleSet/GWASColoc/GWASColocQuery.gql @@ -1,5 +1,5 @@ -query GWASColocQuery($studyLocusIds: [String!]!) { - credibleSets(studyLocusIds: $studyLocusIds) { +query GWASColocQuery($studyLocusId: String!) { + credibleSet(studyLocusId: $studyLocusId) { colocalisation(studyTypes: [gwas], page: { size: 250, index: 0 }) { otherStudyLocus { studyLocusId @@ -26,4 +26,4 @@ query GWASColocQuery($studyLocusIds: [String!]!) { clpp } } -} \ No newline at end of file +} diff --git a/packages/sections/src/credibleSet/GWASColoc/index.ts b/packages/sections/src/credibleSet/GWASColoc/index.ts index 880614185..236a8c457 100644 --- a/packages/sections/src/credibleSet/GWASColoc/index.ts +++ b/packages/sections/src/credibleSet/GWASColoc/index.ts @@ -3,5 +3,5 @@ export const definition = { id, name: "GWAS Colocalisation", shortName: "GC", - hasData: data => data?.[0]?.colocalisation?.length > 0, -}; \ No newline at end of file + hasData: data => data?.colocalisation?.length > 0, +}; diff --git a/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx index 4dcf0b45b..fe1304950 100644 --- a/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx +++ b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx @@ -184,7 +184,7 @@ type BodyProps = { function Body({ studyLocusId, entity }: BodyProps) { const variables = { - studyLocusIds: [studyLocusId], + studyLocusId: studyLocusId, }; const request = useQuery(GWAS_COLOC_QUERY, { @@ -207,7 +207,7 @@ function Body({ studyLocusId, entity }: BodyProps) { order="asc" columns={columns} loading={request.loading} - rows={request.data?.credibleSets[0].colocalisation} + rows={request.data?.credibleSet.colocalisation} query={GWAS_COLOC_QUERY.loc.source.body} variables={variables} /> diff --git a/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLColocQuery.gql b/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLColocQuery.gql index 5451c53f6..28616053c 100644 --- a/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLColocQuery.gql +++ b/packages/sections/src/credibleSet/GWASMolQTL/GWASMolQTLColocQuery.gql @@ -1,5 +1,5 @@ -query GWASMolQTLColocQuery($studyLocusIds: [String!]!) { - credibleSets(studyLocusIds: $studyLocusIds) { +query GWASMolQTLColocQuery($studyLocusId: String!) { + credibleSet(studyLocusId: $studyLocusId) { colocalisation(studyTypes: [tuqtl, pqtl, eqtl, sqtl], page: { size: 250, index: 0 }) { otherStudyLocus { studyLocusId diff --git a/packages/sections/src/credibleSet/GWASMolQTL/index.ts b/packages/sections/src/credibleSet/GWASMolQTL/index.ts index cec2a6008..7fc492371 100644 --- a/packages/sections/src/credibleSet/GWASMolQTL/index.ts +++ b/packages/sections/src/credibleSet/GWASMolQTL/index.ts @@ -3,6 +3,6 @@ export const definition = { name: "GWAS/MolQTL Colocalisation", shortName: "GC", hasData: data => { - return data?.[0]?.colocalisation?.length > 0; + return data?.colocalisation?.length > 0; }, }; diff --git a/packages/sections/src/credibleSet/Locus2Gene/Body.tsx b/packages/sections/src/credibleSet/Locus2Gene/Body.tsx index cedfdb0d4..6f97b54c3 100644 --- a/packages/sections/src/credibleSet/Locus2Gene/Body.tsx +++ b/packages/sections/src/credibleSet/Locus2Gene/Body.tsx @@ -41,7 +41,7 @@ const columns = [ function Body({ studyLocusId, entity }: BodyProps): ReactNode { const variables = { - studyLocusIds: [studyLocusId], + studyLocusId: studyLocusId, }; const request = useQuery(LOCUS2GENE_QUERY, { @@ -62,7 +62,7 @@ function Body({ studyLocusId, entity }: BodyProps): ReactNode { dataDownloaderFileStem={`${studyLocusId}-locus2gene`} columns={columns} loading={request.loading} - rows={request.data?.credibleSets[0].l2Gpredictions} + rows={request.data?.credibleSet.l2Gpredictions} query={LOCUS2GENE_QUERY.loc.source.body} variables={variables} /> diff --git a/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQuery.gql b/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQuery.gql index ea6223c3d..90e061373 100644 --- a/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQuery.gql +++ b/packages/sections/src/credibleSet/Locus2Gene/Locus2GeneQuery.gql @@ -1,5 +1,5 @@ -query Locus2GeneQuery($studyLocusIds: [String!]!) { - credibleSets(studyLocusIds: $studyLocusIds) { +query Locus2GeneQuery($studyLocusId: String!) { + credibleSet(studyLocusId: $studyLocusId) { l2Gpredictions { target { id diff --git a/packages/sections/src/credibleSet/Locus2Gene/index.ts b/packages/sections/src/credibleSet/Locus2Gene/index.ts index 4862808a5..4a5334a1e 100644 --- a/packages/sections/src/credibleSet/Locus2Gene/index.ts +++ b/packages/sections/src/credibleSet/Locus2Gene/index.ts @@ -3,5 +3,5 @@ export const definition = { id, name: "Locus to Gene", shortName: "LG", - hasData: data => data[0]?.l2Gpredictions.length > 0, + hasData: data => data?.l2Gpredictions.length > 0, }; diff --git a/packages/sections/src/credibleSet/Variants/Body.tsx b/packages/sections/src/credibleSet/Variants/Body.tsx index 0b3938a93..23d1e4e45 100644 --- a/packages/sections/src/credibleSet/Variants/Body.tsx +++ b/packages/sections/src/credibleSet/Variants/Body.tsx @@ -151,7 +151,8 @@ function Body({ entity, }: BodyProps) { const variables = { - studyLocusIds: [studyLocusId], + studyLocusId: studyLocusId, + variantIds: [leadVariantId], }; const request = useQuery(VARIANTS_QUERY, { @@ -180,7 +181,7 @@ function Body({ order="desc" columns={columns} loading={request.loading} - rows={request.data?.credibleSets[0].locus} + rows={request.data?.credibleSet.locus.rows} query={VARIANTS_QUERY.loc.source.body} variables={variables} /> diff --git a/packages/sections/src/credibleSet/Variants/VariantsQuery.gql b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql index 432e9c206..640919df5 100644 --- a/packages/sections/src/credibleSet/Variants/VariantsQuery.gql +++ b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql @@ -1,21 +1,24 @@ -query VariantsQuery($studyLocusIds: [String!]!) { - credibleSets(studyLocusIds: $studyLocusIds) { +query VariantsQuery($studyLocusId: String!, $variantIds: [String!]!) { + credibleSet(studyLocusId: $studyLocusId) { studyLocusId - locus { - logBF - posteriorProbability - variant { - id - chromosome - position - referenceAllele - alternateAllele + locus(variantIds: $variantIds) { + count + rows { + logBF + posteriorProbability + variant { + id + chromosome + position + referenceAllele + alternateAllele + } + pValueMantissa + pValueExponent + beta + standardError + r2Overall } - pValueMantissa - pValueExponent - beta - standardError - r2Overall } } } diff --git a/packages/sections/src/credibleSet/Variants/VariantsSummaryFragment.gql b/packages/sections/src/credibleSet/Variants/VariantsSummaryFragment.gql index 55d6fbeb4..45060f92b 100644 --- a/packages/sections/src/credibleSet/Variants/VariantsSummaryFragment.gql +++ b/packages/sections/src/credibleSet/Variants/VariantsSummaryFragment.gql @@ -1,5 +1,5 @@ fragment VariantsSummaryFragment on credibleSet { - locus { - beta + locus(variantIds: $variantIds) { + count } -} \ No newline at end of file +} diff --git a/packages/sections/src/credibleSet/Variants/index.ts b/packages/sections/src/credibleSet/Variants/index.ts index df06aa298..3b9dab34d 100644 --- a/packages/sections/src/credibleSet/Variants/index.ts +++ b/packages/sections/src/credibleSet/Variants/index.ts @@ -3,5 +3,5 @@ export const definition = { id, name: "Credible Set Variants", shortName: "VA", - hasData: data => data?.[0]?.locus?.length > 0, -}; \ No newline at end of file + hasData: data => data?.locus.count > 0, +}; From 6365dac30e4198be0763622e570767d855fc72f3 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Fri, 22 Nov 2024 23:08:04 +0000 Subject: [PATCH 045/120] [Platform]: fix credible set listing all variants instead of only lead (#551) * fix: bug listing only lead variant instead of all variants in credible set * revert: wrong commit --- packages/sections/src/credibleSet/Variants/Body.tsx | 1 - packages/sections/src/credibleSet/Variants/VariantsQuery.gql | 4 ++-- 2 files changed, 2 insertions(+), 3 deletions(-) diff --git a/packages/sections/src/credibleSet/Variants/Body.tsx b/packages/sections/src/credibleSet/Variants/Body.tsx index 23d1e4e45..f74f3f8bd 100644 --- a/packages/sections/src/credibleSet/Variants/Body.tsx +++ b/packages/sections/src/credibleSet/Variants/Body.tsx @@ -152,7 +152,6 @@ function Body({ }: BodyProps) { const variables = { studyLocusId: studyLocusId, - variantIds: [leadVariantId], }; const request = useQuery(VARIANTS_QUERY, { diff --git a/packages/sections/src/credibleSet/Variants/VariantsQuery.gql b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql index 640919df5..e1c7a155c 100644 --- a/packages/sections/src/credibleSet/Variants/VariantsQuery.gql +++ b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql @@ -1,7 +1,7 @@ -query VariantsQuery($studyLocusId: String!, $variantIds: [String!]!) { +query VariantsQuery($studyLocusId: String!) { credibleSet(studyLocusId: $studyLocusId) { studyLocusId - locus(variantIds: $variantIds) { + locus { count rows { logBF From c859339fef583ad25b97229415c63a35bd055c55 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Fri, 22 Nov 2024 23:27:44 +0000 Subject: [PATCH 046/120] [Platform]: consistent navigate button (#553) --- .../src/credibleSet/GWASColoc/Body.tsx | 16 ++++++++---- .../src/credibleSet/GWASMolQTL/Body.tsx | 26 ++++++++----------- .../src/study/GWASCredibleSets/Body.tsx | 15 ++++++++--- .../src/study/QTLCredibleSets/Body.tsx | 15 ++++++++--- .../src/variant/QTLCredibleSets/Body.tsx | 8 +++++- 5 files changed, 51 insertions(+), 29 deletions(-) diff --git a/packages/sections/src/credibleSet/GWASColoc/Body.tsx b/packages/sections/src/credibleSet/GWASColoc/Body.tsx index e136e5e83..36f4a73d6 100644 --- a/packages/sections/src/credibleSet/GWASColoc/Body.tsx +++ b/packages/sections/src/credibleSet/GWASColoc/Body.tsx @@ -6,15 +6,21 @@ import Description from "./Description"; import GWAS_COLOC_QUERY from "./GWASColocQuery.gql"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; import { getStudyCategory } from "../../utils/getStudyCategory"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faArrowRightToBracket } from "@fortawesome/free-solid-svg-icons"; +import { Box } from "@mui/material"; const columns = [ { - id: "view", + id: "otherStudyLocus.studyLocusId", label: "Navigate", - renderCell: ({ otherStudyLocus }) => { - if (!otherStudyLocus) return naLabel; - return view; - }, + renderCell: ({ otherStudyLocus }) => ( + + + + + + ), filterValue: false, exportValue: false, }, diff --git a/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx index fe1304950..701f98d5f 100644 --- a/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx +++ b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx @@ -6,26 +6,22 @@ import Description from "./Description"; import GWAS_COLOC_QUERY from "./GWASMolQTLColocQuery.gql"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; import { getStudyCategory } from "../../utils/getStudyCategory"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; +import { faArrowRightToBracket } from "@fortawesome/free-solid-svg-icons"; +import { Box } from "@mui/material"; const columns = [ { - id: "view", + id: "otherStudyLocus.studyLocusId", label: "Navigate", - renderCell: ({ otherStudyLocus }) => { - if (!otherStudyLocus) return naLabel; - return view; - }, + renderCell: ({ otherStudyLocus }) => ( + + + + + + ), filterValue: false, - exportValue: false, - }, - { - id: "otherStudyLocus.study.target", - label: "Gene", - renderCell: ({ otherStudyLocus }) => { - const study = otherStudyLocus?.study; - if (!study?.target) return naLabel; - return {study.target.approvedSymbol}; - }, }, { id: "otherStudyLocus.study.studyId", diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx index 8f65cde4d..d620f0c4e 100644 --- a/packages/sections/src/study/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -6,20 +6,27 @@ import { DisplayVariantId, OtTable, } from "ui"; +import { Box } from "@mui/material"; import { naLabel } from "../../constants"; import { definition } from "."; import Description from "./Description"; import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; import ManhattanPlot from "./ManhattanPlot"; +import { faArrowRightToBracket } from "@fortawesome/free-solid-svg-icons"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; const columns = [ { - id: "view", + id: "studyLocusId", label: "Navigate", - renderCell: ({ studyLocusId }) => view, - filterValue: false, - exportValue: false, + renderCell: ({ studyLocusId }) => ( + + + + + + ), }, { id: "leadVariant", diff --git a/packages/sections/src/study/QTLCredibleSets/Body.tsx b/packages/sections/src/study/QTLCredibleSets/Body.tsx index a00e7a7a0..b0b05ad55 100644 --- a/packages/sections/src/study/QTLCredibleSets/Body.tsx +++ b/packages/sections/src/study/QTLCredibleSets/Body.tsx @@ -1,18 +1,25 @@ import { useQuery } from "@apollo/client"; import { Link, SectionItem, ScientificNotation, DisplayVariantId, OtTable } from "ui"; +import { Box } from "@mui/material"; import { naLabel } from "../../constants"; import { definition } from "."; import Description from "./Description"; import QTL_CREDIBLE_SETS_QUERY from "./QTLCredibleSetsQuery.gql"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; +import { faArrowRightToBracket } from "@fortawesome/free-solid-svg-icons"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; const columns = [ { - id: "view", + id: "studyLocusId", label: "Navigate", - renderCell: ({ studyLocusId }) => view, - filterValue: false, - exportValue: false, + renderCell: ({ studyLocusId }) => ( + + + + + + ), }, { id: "leadVariant", diff --git a/packages/sections/src/variant/QTLCredibleSets/Body.tsx b/packages/sections/src/variant/QTLCredibleSets/Body.tsx index f39926a8b..03b68ec36 100644 --- a/packages/sections/src/variant/QTLCredibleSets/Body.tsx +++ b/packages/sections/src/variant/QTLCredibleSets/Body.tsx @@ -15,6 +15,8 @@ import Description from "./Description"; import QTL_CREDIBLE_SETS_QUERY from "./QTLCredibleSetsQuery.gql"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; import { ReactNode } from "react"; +import { faArrowRightToBracket } from "@fortawesome/free-solid-svg-icons"; +import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; type getColumnsType = { id: string; @@ -28,7 +30,11 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { id: "studyLocusId", label: "Navigate", renderCell: ({ studyLocusId }) => ( - {studyLocusId} + + + + + ), }, { From bf7e68a9c87dcbfc09fa9772c8d372e6b25c3ea8 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Fri, 22 Nov 2024 23:33:05 +0000 Subject: [PATCH 047/120] [Platform]: consequence column added to credset variants widget (#552) --- .../src/credibleSet/Variants/Body.tsx | 24 +++++++++++++++++++ .../credibleSet/Variants/VariantsQuery.gql | 4 ++++ .../variant/VariantEffectPredictor/Body.tsx | 3 ++- 3 files changed, 30 insertions(+), 1 deletion(-) diff --git a/packages/sections/src/credibleSet/Variants/Body.tsx b/packages/sections/src/credibleSet/Variants/Body.tsx index f74f3f8bd..e473ecc7c 100644 --- a/packages/sections/src/credibleSet/Variants/Body.tsx +++ b/packages/sections/src/credibleSet/Variants/Body.tsx @@ -6,6 +6,7 @@ import { definition } from "."; import Description from "./Description"; import VARIANTS_QUERY from "./VariantsQuery.gql"; import { mantissaExponentComparator, variantComparator } from "../../utils/comparators"; +import { identifiersOrgLink } from "../../utils/global"; type getColumnsType = { leadVariantId: string; @@ -13,6 +14,10 @@ type getColumnsType = { leadAlternateAllele: string; }; +function formatVariantConsequenceLabel(label) { + return label.replace(/_/g, " "); +} + function getColumns({ leadVariantId, leadReferenceAllele, leadAlternateAllele }: getColumnsType) { return [ { @@ -132,6 +137,25 @@ function getColumns({ leadVariantId, leadReferenceAllele, leadAlternateAllele }: return logBF.toPrecision(3); }, }, + { + id: "variant.mostSevereConsequence.label", + label: "Predicted consequence", + tooltip: "Most severe consequence of the variant. Source: Ensembl VEP", + + renderCell: ({ variant }) => { + const mostSevereConsequence = variant?.mostSevereConsequence + if (!mostSevereConsequence) return naLabel; + const displayElement = ( + + {formatVariantConsequenceLabel(mostSevereConsequence.label)} + + ); + return displayElement; + }, + exportValue: ({ variant }) => { + return variant?.mostSevereConsequence.label + }, + }, ]; } diff --git a/packages/sections/src/credibleSet/Variants/VariantsQuery.gql b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql index e1c7a155c..055ba0796 100644 --- a/packages/sections/src/credibleSet/Variants/VariantsQuery.gql +++ b/packages/sections/src/credibleSet/Variants/VariantsQuery.gql @@ -12,6 +12,10 @@ query VariantsQuery($studyLocusId: String!) { position referenceAllele alternateAllele + mostSevereConsequence { + id + label + } } pValueMantissa pValueExponent diff --git a/packages/sections/src/variant/VariantEffectPredictor/Body.tsx b/packages/sections/src/variant/VariantEffectPredictor/Body.tsx index 4aad4a3c9..8930ee328 100644 --- a/packages/sections/src/variant/VariantEffectPredictor/Body.tsx +++ b/packages/sections/src/variant/VariantEffectPredictor/Body.tsx @@ -8,6 +8,7 @@ import { naLabel } from "../../constants"; import { identifiersOrgLink } from "../../utils/global"; import VARIANT_EFFECT_PREDICTOR_QUERY from "./VariantEffectPredictorQuery.gql"; + function formatVariantConsequenceLabel(label) { return label.replace(/_/g, " "); } @@ -81,7 +82,7 @@ const columns = [ { id: "variantConsequences.label", label: "Predicted consequence", - renderCell: ({ variantConsequences, aminoAcidChange, codons, uniprotAccessions }) => { + renderCell: ({ variantConsequences, aminoAcidChange, codons }) => { if (!variantConsequences?.length) return naLabel; let displayElement = variantConsequences.map(({ id, label }, i, arr) => ( From 157ce7c8882f309ec2fe997ff300c75ec19c7f15 Mon Sep 17 00:00:00 2001 From: Chintan Mehta <22376522+chinmehta@users.noreply.github.com> Date: Sat, 23 Nov 2024 11:35:10 +0000 Subject: [PATCH 048/120] [Platform]: evidence schema change (#538) * fix: schema change * fix: update queries --------- Co-authored-by: Carlos Cruz --- packages/sections/src/evidence/EVA/Body.jsx | 7 ++++--- packages/sections/src/evidence/EVA/ClinvarQuery.gql | 6 ++++-- packages/sections/src/evidence/EVASomatic/Body.jsx | 8 ++++---- .../sections/src/evidence/EVASomatic/EvaSomaticQuery.gql | 8 ++++++-- 4 files changed, 18 insertions(+), 11 deletions(-) diff --git a/packages/sections/src/evidence/EVA/Body.jsx b/packages/sections/src/evidence/EVA/Body.jsx index 90d7b80da..5b8a41d31 100644 --- a/packages/sections/src/evidence/EVA/Body.jsx +++ b/packages/sections/src/evidence/EVA/Body.jsx @@ -41,7 +41,7 @@ const exportColumns = [ }, { label: "variantId", - exportValue: row => row.variantId, + exportValue: row => row.variant.id, }, { label: "variantRsId", @@ -110,7 +110,7 @@ function getColumns(label) { { id: "variantId", label: "Variant", - renderCell: ({ variantId }) => + renderCell: ({ variant: { id: variantId } }) => // trim long IDs and append '...' variantId ? ( <> @@ -139,7 +139,8 @@ function getColumns(label) { { id: "variantHgvsId", label: "HGVS ID", - renderCell: ({ variantHgvsId }) => variantHgvsId || naLabel, + renderCell: ({ variant }) => variant.hgvsId || naLabel, + filterValue: ({ variant }) => `${variant.hgvsId}`, }, { id: "studyId", diff --git a/packages/sections/src/evidence/EVA/ClinvarQuery.gql b/packages/sections/src/evidence/EVA/ClinvarQuery.gql index bbb4ba75f..42951c3a9 100644 --- a/packages/sections/src/evidence/EVA/ClinvarQuery.gql +++ b/packages/sections/src/evidence/EVA/ClinvarQuery.gql @@ -19,12 +19,14 @@ query ClinvarQuery($ensemblId: String!, $efoId: String!, $size: Int!, $cursor: S id name } + variant { + id + hgvsId + } variantEffect directionOnTrait diseaseFromSource - variantId variantRsId - variantHgvsId studyId variantFunctionalConsequence { id diff --git a/packages/sections/src/evidence/EVASomatic/Body.jsx b/packages/sections/src/evidence/EVASomatic/Body.jsx index 4ed44712f..a81725fa1 100644 --- a/packages/sections/src/evidence/EVASomatic/Body.jsx +++ b/packages/sections/src/evidence/EVASomatic/Body.jsx @@ -66,7 +66,7 @@ const getColumns = label => [ { id: "variantId", label: "Variant", - renderCell: ({ variantId }) => + renderCell: ({ variant: { id: variantId } }) => variantId ? ( <> {variantId.substring(0, 20)} @@ -75,7 +75,7 @@ const getColumns = label => [ ) : ( naLabel ), - filterValue: ({ variantId }) => `${variantId}`, + filterValue: ({ variant: { id: variantId } }) => `${variantId}`, }, { id: "variantRsId", @@ -96,8 +96,8 @@ const getColumns = label => [ { id: "variantHgvsId", label: "HGVS ID", - renderCell: ({ variantHgvsId }) => variantHgvsId || naLabel, - filterValue: ({ variantHgvsId }) => `${variantHgvsId}`, + renderCell: ({ variant }) => variant.hgvsId || naLabel, + filterValue: ({ variant }) => `${variant.hgvsId}`, }, { id: "studyId", diff --git a/packages/sections/src/evidence/EVASomatic/EvaSomaticQuery.gql b/packages/sections/src/evidence/EVASomatic/EvaSomaticQuery.gql index 095f4178d..7fc1a8c56 100644 --- a/packages/sections/src/evidence/EVASomatic/EvaSomaticQuery.gql +++ b/packages/sections/src/evidence/EVASomatic/EvaSomaticQuery.gql @@ -15,12 +15,16 @@ query EvaSomaticQuery($ensemblId: String!, $efoId: String!, $size: Int!, $cursor id name } + variant { + hgvsId + } variantEffect directionOnTrait diseaseFromSource - variantId + variant { + id + } variantRsId - variantHgvsId studyId clinicalSignificances allelicRequirements From d1dd7aaf0915d0748462a29aabc77d76ca285403 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Sat, 23 Nov 2024 16:44:51 +0000 Subject: [PATCH 049/120] [Platform]: fix handle null study locus id (#554) --- packages/sections/src/credibleSet/GWASColoc/Body.tsx | 11 +++++------ packages/sections/src/credibleSet/GWASMolQTL/Body.tsx | 10 +++++----- 2 files changed, 10 insertions(+), 11 deletions(-) diff --git a/packages/sections/src/credibleSet/GWASColoc/Body.tsx b/packages/sections/src/credibleSet/GWASColoc/Body.tsx index 36f4a73d6..0cfe80151 100644 --- a/packages/sections/src/credibleSet/GWASColoc/Body.tsx +++ b/packages/sections/src/credibleSet/GWASColoc/Body.tsx @@ -14,15 +14,14 @@ const columns = [ { id: "otherStudyLocus.studyLocusId", label: "Navigate", - renderCell: ({ otherStudyLocus }) => ( - + renderCell: ({ otherStudyLocus }) => { + if (!otherStudyLocus?.variant) return naLabel; + return ( - - ), - filterValue: false, - exportValue: false, + ) + }, }, { id: "otherStudyLocus.study.studyId", diff --git a/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx index 701f98d5f..bc9396694 100644 --- a/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx +++ b/packages/sections/src/credibleSet/GWASMolQTL/Body.tsx @@ -14,14 +14,14 @@ const columns = [ { id: "otherStudyLocus.studyLocusId", label: "Navigate", - renderCell: ({ otherStudyLocus }) => ( - + renderCell: ({ otherStudyLocus }) => { + if (!otherStudyLocus?.variant) return naLabel; + return( - - ), - filterValue: false, + ) + }, }, { id: "otherStudyLocus.study.studyId", From b2b53c36e868d927309bea2cb02a25fdf3bb2603 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Mon, 25 Nov 2024 14:03:15 +0000 Subject: [PATCH 050/120] feat: confidence and L2G enhancements to credible set in study page --- .../src/study/GWASCredibleSets/Body.tsx | 44 +++++++++++++------ .../GWASCredibleSetsQuery.gql | 5 ++- 2 files changed, 34 insertions(+), 15 deletions(-) diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx index d620f0c4e..173287207 100644 --- a/packages/sections/src/study/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -4,10 +4,13 @@ import { SectionItem, ScientificNotation, DisplayVariantId, + Tooltip, + ClinvarStars, + OtScoreLinearBar, OtTable, } from "ui"; import { Box } from "@mui/material"; -import { naLabel } from "../../constants"; +import { clinvarStarMap, naLabel } from "../../constants"; import { definition } from "."; import Description from "./Description"; import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; @@ -82,35 +85,50 @@ const columns = [ return beta.toPrecision(3); }, }, - { id: "finemappingMethod", label: "Fine-mapping method", }, { - id: "TopL2G", + id: "confidence", + label: "Fine-mapping confidence", + tooltip: "Fine-mapping confidence based on the quality of the linkage-desequilibrium information available and fine-mapping method", + sortable: true, + renderCell: ({ confidence }) => { + if (!confidence) return naLabel; + return ( + + + + ); + }, + filterValue: ({ confidence }) => clinvarStarMap[confidence], + }, + { + id: "topL2G", label: "Top L2G", + filterValue: ({ l2Gpredictions }) => l2Gpredictions?.target.approvedSymbol, tooltip: "Top gene prioritised by our locus-to-gene model", - filterValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.target.approvedSymbol, renderCell: ({ l2Gpredictions }) => { - const { target } = l2Gpredictions?.[0]; - if (!target) return naLabel; + if (!l2Gpredictions[0]?.target) return naLabel; + const { target } = l2Gpredictions[0]; return {target.approvedSymbol}; }, - exportValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.target.approvedSymbol, + exportValue: ({ l2Gpredictions }) => l2Gpredictions?.target.approvedSymbol, }, { id: "l2gScore", label: "L2G score", - comparator: (rowA, rowB) => rowA?.l2Gpredictions?.[0]?.score - rowB?.l2Gpredictions?.[0]?.score, + comparator: (rowA, rowB) => rowA?.l2Gpredictions[0]?.score - rowB?.l2Gpredictions[0]?.score, sortable: true, - filterValue: false, renderCell: ({ l2Gpredictions }) => { - const { score } = l2Gpredictions?.[0]; - if (typeof score !== "number") return naLabel; - return score.toFixed(3); + if (!l2Gpredictions[0]?.score) return naLabel; + return ( + + + + ); }, - exportValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.score, }, { id: "credibleSetSize", diff --git a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql index c767c8d6e..2885069e2 100644 --- a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql +++ b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql @@ -19,8 +19,9 @@ query GWASCredibleSetsQuery($studyId: String!) { count } finemappingMethod + confidence l2Gpredictions(size: 1) { - target{ + target { id approvedSymbol } @@ -29,4 +30,4 @@ query GWASCredibleSetsQuery($studyId: String!) { } } } -} \ No newline at end of file +} From a62e16f9c9c0451fa8b32704fbc14411e0898c72 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Mon, 25 Nov 2024 14:03:41 +0000 Subject: [PATCH 051/120] Revert "feat: confidence and L2G enhancements to credible set in study page" This reverts commit b2b53c36e868d927309bea2cb02a25fdf3bb2603. --- .../src/study/GWASCredibleSets/Body.tsx | 44 ++++++------------- .../GWASCredibleSetsQuery.gql | 5 +-- 2 files changed, 15 insertions(+), 34 deletions(-) diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx index 173287207..d620f0c4e 100644 --- a/packages/sections/src/study/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -4,13 +4,10 @@ import { SectionItem, ScientificNotation, DisplayVariantId, - Tooltip, - ClinvarStars, - OtScoreLinearBar, OtTable, } from "ui"; import { Box } from "@mui/material"; -import { clinvarStarMap, naLabel } from "../../constants"; +import { naLabel } from "../../constants"; import { definition } from "."; import Description from "./Description"; import GWAS_CREDIBLE_SETS_QUERY from "./GWASCredibleSetsQuery.gql"; @@ -85,50 +82,35 @@ const columns = [ return beta.toPrecision(3); }, }, + { id: "finemappingMethod", label: "Fine-mapping method", }, { - id: "confidence", - label: "Fine-mapping confidence", - tooltip: "Fine-mapping confidence based on the quality of the linkage-desequilibrium information available and fine-mapping method", - sortable: true, - renderCell: ({ confidence }) => { - if (!confidence) return naLabel; - return ( - - - - ); - }, - filterValue: ({ confidence }) => clinvarStarMap[confidence], - }, - { - id: "topL2G", + id: "TopL2G", label: "Top L2G", - filterValue: ({ l2Gpredictions }) => l2Gpredictions?.target.approvedSymbol, tooltip: "Top gene prioritised by our locus-to-gene model", + filterValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.target.approvedSymbol, renderCell: ({ l2Gpredictions }) => { - if (!l2Gpredictions[0]?.target) return naLabel; - const { target } = l2Gpredictions[0]; + const { target } = l2Gpredictions?.[0]; + if (!target) return naLabel; return {target.approvedSymbol}; }, - exportValue: ({ l2Gpredictions }) => l2Gpredictions?.target.approvedSymbol, + exportValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.target.approvedSymbol, }, { id: "l2gScore", label: "L2G score", - comparator: (rowA, rowB) => rowA?.l2Gpredictions[0]?.score - rowB?.l2Gpredictions[0]?.score, + comparator: (rowA, rowB) => rowA?.l2Gpredictions?.[0]?.score - rowB?.l2Gpredictions?.[0]?.score, sortable: true, + filterValue: false, renderCell: ({ l2Gpredictions }) => { - if (!l2Gpredictions[0]?.score) return naLabel; - return ( - - - - ); + const { score } = l2Gpredictions?.[0]; + if (typeof score !== "number") return naLabel; + return score.toFixed(3); }, + exportValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.score, }, { id: "credibleSetSize", diff --git a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql index 2885069e2..c767c8d6e 100644 --- a/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql +++ b/packages/sections/src/study/GWASCredibleSets/GWASCredibleSetsQuery.gql @@ -19,9 +19,8 @@ query GWASCredibleSetsQuery($studyId: String!) { count } finemappingMethod - confidence l2Gpredictions(size: 1) { - target { + target{ id approvedSymbol } @@ -30,4 +29,4 @@ query GWASCredibleSetsQuery($studyId: String!) { } } } -} +} \ No newline at end of file From 616cd127eef48a69f981370099860045c5580499 Mon Sep 17 00:00:00 2001 From: Graham McNeill Date: Mon, 25 Nov 2024 17:06:13 +0000 Subject: [PATCH 052/120] [Platform]: Replace unsafe destructuring assignments on study page (#558) --- packages/sections/src/study/GWASCredibleSets/Body.tsx | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/packages/sections/src/study/GWASCredibleSets/Body.tsx b/packages/sections/src/study/GWASCredibleSets/Body.tsx index d620f0c4e..31e60188b 100644 --- a/packages/sections/src/study/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/study/GWASCredibleSets/Body.tsx @@ -93,7 +93,7 @@ const columns = [ tooltip: "Top gene prioritised by our locus-to-gene model", filterValue: ({ l2Gpredictions }) => l2Gpredictions?.[0]?.target.approvedSymbol, renderCell: ({ l2Gpredictions }) => { - const { target } = l2Gpredictions?.[0]; + const target = l2Gpredictions?.[0]?.target; if (!target) return naLabel; return {target.approvedSymbol}; }, @@ -106,7 +106,7 @@ const columns = [ sortable: true, filterValue: false, renderCell: ({ l2Gpredictions }) => { - const { score } = l2Gpredictions?.[0]; + const score = l2Gpredictions?.[0]?.score; if (typeof score !== "number") return naLabel; return score.toFixed(3); }, From a9f0a804bf147cb64e8eea6de144cb75e6e70ab2 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Mon, 25 Nov 2024 17:07:35 +0000 Subject: [PATCH 053/120] [Platform]: old genetics use variant object in query (#555) --- packages/sections/src/evidence/OTGenetics/sectionQuery.gql | 4 +++- 1 file changed, 3 insertions(+), 1 deletion(-) diff --git a/packages/sections/src/evidence/OTGenetics/sectionQuery.gql b/packages/sections/src/evidence/OTGenetics/sectionQuery.gql index d6f82d928..3ca5611da 100644 --- a/packages/sections/src/evidence/OTGenetics/sectionQuery.gql +++ b/packages/sections/src/evidence/OTGenetics/sectionQuery.gql @@ -23,7 +23,9 @@ query OpenTargetsGeneticsQuery($ensemblId: String!, $efoId: String!, $size: Int! diseaseFromSource studyId studySampleSize - variantId + variant { + id + } variantRsId literature publicationYear From f1369c955288ded386a1ea6ec6f5fc49598285d3 Mon Sep 17 00:00:00 2001 From: David Ochoa Date: Mon, 25 Nov 2024 17:08:04 +0000 Subject: [PATCH 054/120] [Platform]: finemapping confidence tooltip (#556) --- packages/sections/src/evidence/GWASCredibleSets/Body.jsx | 1 + packages/sections/src/variant/GWASCredibleSets/Body.tsx | 1 + packages/sections/src/variant/QTLCredibleSets/Body.tsx | 1 + 3 files changed, 3 insertions(+) diff --git a/packages/sections/src/evidence/GWASCredibleSets/Body.jsx b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx index c1e44ede2..3da061895 100644 --- a/packages/sections/src/evidence/GWASCredibleSets/Body.jsx +++ b/packages/sections/src/evidence/GWASCredibleSets/Body.jsx @@ -113,6 +113,7 @@ function getColumns() { id: "confidence", label: "Fine-mapping confidence", sortable: true, + tooltip: "Fine-mapping confidence based on the quality of the linkage-desequilibrium information available and fine-mapping method", renderCell: ({ credibleSet }) => { if (!credibleSet?.confidence) return naLabel; return ( diff --git a/packages/sections/src/variant/GWASCredibleSets/Body.tsx b/packages/sections/src/variant/GWASCredibleSets/Body.tsx index c7970476a..816360881 100644 --- a/packages/sections/src/variant/GWASCredibleSets/Body.tsx +++ b/packages/sections/src/variant/GWASCredibleSets/Body.tsx @@ -162,6 +162,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { { id: "confidence", label: "Fine-mapping confidence", + tooltip: "Fine-mapping confidence based on the suitability of the linkage-desequilibrium information and fine-mapping method", sortable: true, renderCell: ({ confidence }) => { if (!confidence) return naLabel; diff --git a/packages/sections/src/variant/QTLCredibleSets/Body.tsx b/packages/sections/src/variant/QTLCredibleSets/Body.tsx index 03b68ec36..2b9d00dd2 100644 --- a/packages/sections/src/variant/QTLCredibleSets/Body.tsx +++ b/packages/sections/src/variant/QTLCredibleSets/Body.tsx @@ -173,6 +173,7 @@ function getColumns({ id, referenceAllele, alternateAllele }: getColumnsType) { { id: "confidence", label: "Fine-mapping confidence", + tooltip: "Fine-mapping confidence based on the quality of the linkage-desequilibrium information available and fine-mapping method", sortable: true, renderCell: ({ confidence }) => { if (!confidence) return naLabel; From 6a9b78dd8a6d938490123ce4baa9b35855e43c95 Mon Sep 17 00:00:00 2001 From: Carlos Cruz Date: Tue, 26 Nov 2024 09:32:38 +0000 Subject: [PATCH 055/120] [Platform]: homepage and colors refactor (#559) --- apps/platform/.env | 2 +- apps/platform/public/profiles/default.js | 9 +- apps/platform/public/profiles/partners.js | 2 + apps/platform/src/App.tsx | 4 +- .../components/AdvanceOptionsMenu.jsx | 7 +- .../components/DataDownloader.jsx | 1 + .../components/DataUploader/DataUploader.jsx | 1 + .../components/DisplayModeSwitch.tsx | 52 ++++ .../RowInteractors/useRowInteractors.js | 2 +- .../components/Table/TableCell.jsx | 8 +- .../components/TargetPrioritisationSwitch.jsx | 39 --- .../AssociationsToolkit/components/layout.tsx | 2 +- .../components/AssociationsToolkit/index.ts | 2 +- .../AssociationsToolkit/utils/Legend.js | 4 + .../AssociationsToolkit/utils/index.js | 43 ++- .../src/components/Facets/FacetsSearch.tsx | 1 + .../src/components/Facets/facetsLayout.tsx | 1 + .../DiseaseAssociations.tsx | 6 +- .../src/pages/DiseasePage/DiseasePage.tsx | 6 +- .../pages/DrugPage/Smiles/SmilesHelper.jsx | 4 +- apps/platform/src/pages/HomePage/HomeBox.jsx | 49 ++- apps/platform/src/pages/HomePage/HomePage.jsx | 273 ++++++++++------- .../src/pages/HomePage/PPHomePage.jsx | 281 ------------------ apps/platform/src/pages/HomePage/Splash.jsx | 2 +- apps/platform/src/pages/HomePage/index.jsx | 11 - apps/platform/src/pages/TargetPage/Header.jsx | 23 -- .../TargetAssociations/TargetAssociations.tsx | 7 +- .../src/pages/VariantPage/ProfileHeader.tsx | 17 +- apps/platform/src/theme.js | 45 ++- .../components/GlobalSearch/GlobalSearch.jsx | 24 +- packages/ui/src/components/Header.tsx | 4 +- packages/ui/src/components/NavBar.jsx | 2 +- .../src/components/Summary/summaryStyles.js | 6 +- 33 files changed, 390 insertions(+), 550 deletions(-) create mode 100644 apps/platform/src/components/AssociationsToolkit/components/DisplayModeSwitch.tsx delete mode 100644 apps/platform/src/components/AssociationsToolkit/components/TargetPrioritisationSwitch.jsx delete mode 100644 apps/platform/src/pages/HomePage/PPHomePage.jsx delete mode 100644 apps/platform/src/pages/HomePage/index.jsx diff --git a/apps/platform/.env b/apps/platform/.env index 5544d9856..66185f29a 100644 --- a/apps/platform/.env +++ b/apps/platform/.env @@ -1,3 +1,3 @@ VITE_API_URL=https://api.partner-platform.dev.opentargets.xyz/api/v4/graphql VITE_AI_API_URL=https://dev-ai-api-w37vlfsidq-ew.a.run.app -VITE_PROFILE=default \ No newline at end of file +VITE_PROFILE=default diff --git a/apps/platform/public/profiles/default.js b/apps/platform/public/profiles/default.js index d1b0c42dc..081c94bff 100644 --- a/apps/platform/public/profiles/default.js +++ b/apps/platform/public/profiles/default.js @@ -5,16 +5,13 @@ var configProfile = { documentationUrl: "https://platform-docs.opentargets.org", communityUrl: 'https://community.opentargets.org', communityTicketUrl: 'https://community.opentargets.org/c/community-feedback/bug-reports/34', - // config navbar main menu (hamburger) - // mainMenuItems: [], - // homepage logo subtitle (tagline) - // otLogoTagline: '', /* colors */ - primaryColor: '#3489ca', - // custom colour scale: override value in constants.js + secondaryColor: '#18405e', + // colorRange: [], + // custom colour scale: override value in constants.js /* partner preview options */ diff --git a/apps/platform/public/profiles/partners.js b/apps/platform/public/profiles/partners.js index 0de819450..0e4b561a8 100644 --- a/apps/platform/public/profiles/partners.js +++ b/apps/platform/public/profiles/partners.js @@ -14,7 +14,9 @@ var configProfile = { /* colors */ + // primaryColor: '#2f7bb5', primaryColor: '#3489ca', + secondaryColor: '#18405e', // custom colour scale: override value in constants.js colorRange: [ '#e5edf4', diff --git a/apps/platform/src/App.tsx b/apps/platform/src/App.tsx index 587a0d686..a211cf2be 100644 --- a/apps/platform/src/App.tsx +++ b/apps/platform/src/App.tsx @@ -3,10 +3,9 @@ import { ApolloProvider } from "@apollo/client"; import { ThemeProvider, SearchProvider, PrivateRoute, ConfigurationProvider } from "ui"; import SEARCH_QUERY from "./components/Search/SearchQuery.gql"; -import ShouldAccessPPP from "./components/ShouldAccessPPP"; import client from "./client"; import theme from "./theme"; -import HomePage from "./pages/HomePage"; +import HomePage from "./pages/HomePage/HomePage"; import SearchPage from "./pages/SearchPage"; import DiseasePage from "./pages/DiseasePage/DiseasePage"; import DownloadsPage from "./pages/DownloadsPage"; @@ -77,7 +76,6 @@ function App(): ReactElement { - {/* */} diff --git a/apps/platform/src/components/AssociationsToolkit/components/AdvanceOptionsMenu.jsx b/apps/platform/src/components/AssociationsToolkit/components/AdvanceOptionsMenu.jsx index ecd162546..b77b9c20f 100644 --- a/apps/platform/src/components/AssociationsToolkit/components/AdvanceOptionsMenu.jsx +++ b/apps/platform/src/components/AssociationsToolkit/components/AdvanceOptionsMenu.jsx @@ -14,11 +14,7 @@ const PopoverContent = styled("div")({ function DataMenu() { const [anchorEl, setAnchorEl] = useState(null); - const { - activeHeadersControlls, - setActiveHeadersControlls, - displayedTable, - } = useAotfContext(); + const { activeHeadersControlls, setActiveHeadersControlls, displayedTable } = useAotfContext(); const isPrioritisation = displayedTable === "prioritisations"; @@ -43,6 +39,7 @@ function DataMenu() { disableElevation disabled={isPrioritisation} sx={{ height: 1, maxHeight: "45px" }} + aria-label="Advanced options" > diff --git a/apps/platform/src/components/AssociationsToolkit/components/DataDownloader.jsx b/apps/platform/src/components/AssociationsToolkit/components/DataDownloader.jsx index db1db796f..58a3fd28f 100644 --- a/apps/platform/src/components/AssociationsToolkit/components/DataDownloader.jsx +++ b/apps/platform/src/components/AssociationsToolkit/components/DataDownloader.jsx @@ -281,6 +281,7 @@ function DataDownloader() { variant="outlined" disableElevation sx={{ height: 1, maxHeight: "45px" }} + aria-label="Share Export" > diff --git a/apps/platform/src/components/AssociationsToolkit/components/DataUploader/DataUploader.jsx b/apps/platform/src/components/AssociationsToolkit/components/DataUploader/DataUploader.jsx index 97aafb776..7e8e0b712 100644 --- a/apps/platform/src/components/AssociationsToolkit/components/DataUploader/DataUploader.jsx +++ b/apps/platform/src/components/AssociationsToolkit/components/DataUploader/DataUploader.jsx @@ -408,6 +408,7 @@ function DataUploader() { variant="outlined" disableElevation sx={{ height: 1, maxHeight: "45px" }} + aria-label="Upload list of entities" > diff --git a/apps/platform/src/components/AssociationsToolkit/components/DisplayModeSwitch.tsx b/apps/platform/src/components/AssociationsToolkit/components/DisplayModeSwitch.tsx new file mode 100644 index 000000000..37d50b3e9 --- /dev/null +++ b/apps/platform/src/components/AssociationsToolkit/components/DisplayModeSwitch.tsx @@ -0,0 +1,52 @@ +import { MouseEvent } from "react"; +import { ToggleButtonGroup, ToggleButton } from "@mui/material"; +import useAotfContext from "../hooks/useAotfContext"; +import { DISPLAY_MODE } from "../utils"; // Ensure DISPLAY_MODE is properly typed + +type DisplayMode = (typeof DISPLAY_MODE)[keyof typeof DISPLAY_MODE]; + +function getAssocLabel(entity: string): string { + if (entity === "disease") return "Target-disease association"; + return "Target-disease association"; +} + +function DisplayModeSwitch() { + // Type context return values + const { displayedTable, setDisplayedTable, entity } = useAotfContext(); + + // Type the parameters for the event and newAlignment + const handleChange = (event: MouseEvent, newAlignment: DisplayMode | null) => { + event.preventDefault(); + if ( + newAlignment === DISPLAY_MODE.PRIORITISATION || + newAlignment === DISPLAY_MODE.ASSOCIATIONS + ) { + setDisplayedTable(newAlignment); + } + }; + + const associationsLabel = getAssocLabel(entity); + + return ( + + + {associationsLabel} + + {entity === "disease" && ( + + Target prioritisation factors + + )} + + ); +} + +export default DisplayModeSwitch; diff --git a/apps/platform/src/components/AssociationsToolkit/components/RowInteractors/useRowInteractors.js b/apps/platform/src/components/AssociationsToolkit/components/RowInteractors/useRowInteractors.js index 9dfbf2ffd..909fe2e17 100644 --- a/apps/platform/src/components/AssociationsToolkit/components/RowInteractors/useRowInteractors.js +++ b/apps/platform/src/components/AssociationsToolkit/components/RowInteractors/useRowInteractors.js @@ -62,7 +62,7 @@ function useRowInteractors({ sourceDatabase: rowInteractorsSource, ensgId: rowInteractorsId, index: 0, - size: 5000, + size: 3000, }, }); diff --git a/apps/platform/src/components/AssociationsToolkit/components/Table/TableCell.jsx b/apps/platform/src/components/AssociationsToolkit/components/Table/TableCell.jsx index 54e181832..ac8d0f2de 100644 --- a/apps/platform/src/components/AssociationsToolkit/components/Table/TableCell.jsx +++ b/apps/platform/src/components/AssociationsToolkit/components/Table/TableCell.jsx @@ -38,6 +38,9 @@ const ScoreElement = styled("div", { }) ); +const bkgImg = "repeating-linear-gradient(-135deg, #e2e8f0, #e2e8f0 3px, white 2px, white 6px);"; +const plainBkg = `${bkgImg} `; + const defaultCell = { getValue: () => false, table: { @@ -45,13 +48,14 @@ const defaultCell = { }, }; -function TableCell({ shape = "circular", cell = defaultCell, colorScale, displayedTable }) { +function TableCell({ shape = "circular", cell = defaultCell, colorScale, displayedTable, label }) { const { prefix, loading, parentTable, parentRow } = cell.table.getState(); const dispatch = useAssociationsFocusDispatch(); const cellValue = cell.getValue(); const hasValue = cellHasValue(cellValue); const borderColor = hasValue ? colorScale(cellValue) : grey[300]; - const backgroundColor = hasValue ? colorScale(cellValue) : "#fafafa"; + let backgroundColor = hasValue ? colorScale(cellValue) : "#fafafa"; + if (label) backgroundColor = plainBkg; const focusState = useAssociationsFocus(); diff --git a/apps/platform/src/components/AssociationsToolkit/components/TargetPrioritisationSwitch.jsx b/apps/platform/src/components/AssociationsToolkit/components/TargetPrioritisationSwitch.jsx deleted file mode 100644 index d07201ede..000000000 --- a/apps/platform/src/components/AssociationsToolkit/components/TargetPrioritisationSwitch.jsx +++ /dev/null @@ -1,39 +0,0 @@ -import ToggleButton from "@mui/material/ToggleButton"; -import ToggleButtonGroup from "@mui/material/ToggleButtonGroup"; - -import { DISPLAY_MODE } from "../utils"; -import useAotfContext from "../hooks/useAotfContext"; - -function TargetPrioritisationSwitch() { - const { displayedTable, setDisplayedTable } = useAotfContext(); - - const handleChange = (event, newAlignment) => { - event.preventDefault(); - if ( - newAlignment === DISPLAY_MODE.PRIORITISATION || - newAlignment === DISPLAY_MODE.ASSOCIATIONS - ) { - setDisplayedTable(newAlignment); - } - }; - - return ( - - - Target-disease association - - - Target prioritisation factors - - - ); -} - -export default TargetPrioritisationSwitch; diff --git a/apps/platform/src/components/AssociationsToolkit/components/layout.tsx b/apps/platform/src/components/AssociationsToolkit/components/layout.tsx index 29241bc9a..661581ce6 100644 --- a/apps/platform/src/components/AssociationsToolkit/components/layout.tsx +++ b/apps/platform/src/components/AssociationsToolkit/components/layout.tsx @@ -82,7 +82,7 @@ export const ControlsSection = styled("section")` margin-bottom: 30px; display: flex; justify-content: space-between; - align-items: start; + align-items: center; flex-wrap: wrap; `; diff --git a/apps/platform/src/components/AssociationsToolkit/index.ts b/apps/platform/src/components/AssociationsToolkit/index.ts index b67b6e231..8d72dfade 100644 --- a/apps/platform/src/components/AssociationsToolkit/index.ts +++ b/apps/platform/src/components/AssociationsToolkit/index.ts @@ -1,6 +1,6 @@ export { default as AdvanceOptionsMenu } from "./components/AdvanceOptionsMenu"; export { default as TableAssociations } from "./components/Table/TableAssociations"; -export { default as TargetPrioritisationSwitch } from "./components/TargetPrioritisationSwitch"; +export { default as DisplayModeSwitch } from "./components/DisplayModeSwitch"; export { default as DataDownloader } from "./components/DataDownloader"; export { default as DataUploader } from "./components/DataUploader/DataUploader"; export { default as AotfApiPlayground } from "./components/AotfApiPlayground"; diff --git a/apps/platform/src/components/AssociationsToolkit/utils/Legend.js b/apps/platform/src/components/AssociationsToolkit/utils/Legend.js index d664d62b8..3503c509a 100644 --- a/apps/platform/src/components/AssociationsToolkit/utils/Legend.js +++ b/apps/platform/src/components/AssociationsToolkit/utils/Legend.js @@ -155,6 +155,7 @@ function Legend( svg .append("g") .attr("transform", `translate(0,${height - marginBottom})`) + .attr("class", "ticks") .call( axisBottom(x) .ticks(ticks, typeof tickFormat === "string" ? tickFormat : undefined) @@ -176,6 +177,9 @@ function Legend( .text(title) ); + svg.selectAll(".ticks line").attr("stroke", "none"); + svg.selectAll(".ticks text").attr("font-weight", "bold").attr("font-size", "10px"); + return svg.node(); } diff --git a/apps/platform/src/components/AssociationsToolkit/utils/index.js b/apps/platform/src/components/AssociationsToolkit/utils/index.js index 69eeb072a..357c8a42e 100644 --- a/apps/platform/src/components/AssociationsToolkit/utils/index.js +++ b/apps/platform/src/components/AssociationsToolkit/utils/index.js @@ -110,25 +110,32 @@ const { primaryColor } = config.profile; /* Associations colors */ export const ASSOCIATION_COLORS = [ - rgb("#deebf7"), - rgb("#c6dbef"), - rgb("#9ecae1"), - rgb("#6baed6"), - rgb("#4292c6"), - rgb("#2171b5"), - rgb("#08519c"), + rgb("#dbeaf6"), + rgb("#BFDAEE"), + rgb("#A5CAE6"), + rgb("#8ABADE"), + rgb("#6EA9D7"), + rgb("#4F97CF"), + rgb("#3583C0"), + rgb("#2C6EA0"), + rgb("#245780"), ]; /* PRIORITIZATION */ -// Red to blue export const PRIORITISATION_COLORS = [ - rgb("#ec2746"), - rgb("#f16d47"), - rgb("#f19d5c"), - rgb("#f0c584"), - rgb("#c8b95f"), - rgb("#95ae43"), - rgb("#52a237"), + rgb("#a01813"), + rgb("#bc3a19"), + rgb("#d65a1f"), + rgb("#e08145"), + rgb("#e3a772"), + rgb("#e6ca9c"), + rgb("#eceada"), + rgb("#c5d2c1"), + rgb("#9ebaa8"), + rgb("#78a290"), + rgb("#528b78"), + rgb("#2f735f"), + rgb("#2e5943"), ]; /* ASSOCIATION SCALE */ @@ -149,6 +156,12 @@ const PrioritisationLegend = Legend(prioritizationScale, { " ", " ", " ", + " ", + " ", + " ", + " ", + " ", + " ", TARGE_PRIORITISATION_LEGEND_TICKS[1], ][i], }); diff --git a/apps/platform/src/components/Facets/FacetsSearch.tsx b/apps/platform/src/components/Facets/FacetsSearch.tsx index d8ef2a212..e825bc289 100644 --- a/apps/platform/src/components/Facets/FacetsSearch.tsx +++ b/apps/platform/src/components/Facets/FacetsSearch.tsx @@ -53,6 +53,7 @@ function FacetsSearch(): ReactElement { return ( { diff --git a/apps/platform/src/components/Facets/facetsLayout.tsx b/apps/platform/src/components/Facets/facetsLayout.tsx index 2b6eb1e20..b68ae9df6 100644 --- a/apps/platform/src/components/Facets/facetsLayout.tsx +++ b/apps/platform/src/components/Facets/facetsLayout.tsx @@ -6,6 +6,7 @@ export const FacetsSelect = styled(Select)(({ theme }) => ({ background: `${theme.palette.grey[200]}`, display: "flex", boxShadow: "none", + fontSize: "0.875rem", ".MuiOutlinedInput-notchedOutline": { borderRight: 0, borderTopRightRadius: 0, diff --git a/apps/platform/src/pages/DiseasePage/DiseaseAssociations/DiseaseAssociations.tsx b/apps/platform/src/pages/DiseasePage/DiseaseAssociations/DiseaseAssociations.tsx index 0519744d8..efc71cb0b 100644 --- a/apps/platform/src/pages/DiseasePage/DiseaseAssociations/DiseaseAssociations.tsx +++ b/apps/platform/src/pages/DiseasePage/DiseaseAssociations/DiseaseAssociations.tsx @@ -3,7 +3,7 @@ import { Box, Divider } from "@mui/material"; import { TableAssociations, AdvanceOptionsMenu, - TargetPrioritisationSwitch, + DisplayModeSwitch, AssociationsProvider, DataDownloader, ControlsSection, @@ -29,7 +29,7 @@ function DiseaseAssociations(pros: DiseaseAssociationsProps): ReactElement { <> - + @@ -38,7 +38,7 @@ function DiseaseAssociations(pros: DiseaseAssociationsProps): ReactElement { - + diff --git a/apps/platform/src/pages/DiseasePage/DiseasePage.tsx b/apps/platform/src/pages/DiseasePage/DiseasePage.tsx index b03260a4b..cff0d0ba2 100644 --- a/apps/platform/src/pages/DiseasePage/DiseasePage.tsx +++ b/apps/platform/src/pages/DiseasePage/DiseasePage.tsx @@ -50,11 +50,7 @@ function DiseasePage(): ReactElement { -
Associated targets
-
- } + label={Associated targets} value={`/disease/${efoId}/associations`} component={Link} to={`/disease/${efoId}/associations`} diff --git a/apps/platform/src/pages/DrugPage/Smiles/SmilesHelper.jsx b/apps/platform/src/pages/DrugPage/Smiles/SmilesHelper.jsx index 21cea079e..b33ab9754 100644 --- a/apps/platform/src/pages/DrugPage/Smiles/SmilesHelper.jsx +++ b/apps/platform/src/pages/DrugPage/Smiles/SmilesHelper.jsx @@ -7,13 +7,13 @@ import SmilesDrawer from "smiles-drawer"; const useStyles = makeStyles(theme => ({ container: { - background: "none !important", cursor: "pointer", height: "240px", marginLeft: "auto", width: "fit-content", "& .seeDetailsIcon": { visibility: "hidden", + color: theme.palette.secondary.main, }, "&:hover .seeDetailsIcon": { visibility: "visible", @@ -71,7 +71,7 @@ function SmilesHelper({ smiles, chemblId }) { return ( <> - + diff --git a/apps/platform/src/pages/HomePage/HomeBox.jsx b/apps/platform/src/pages/HomePage/HomeBox.jsx index 5d6483b54..d6f859079 100644 --- a/apps/platform/src/pages/HomePage/HomeBox.jsx +++ b/apps/platform/src/pages/HomePage/HomeBox.jsx @@ -1,15 +1,18 @@ -import { Grid, Paper, Box } from "@mui/material"; -import config from "../../config"; +import { Grid, Paper, Box, Typography } from "@mui/material"; + +import { usePermissions, Link } from "ui"; import OTLogo from "../../assets/OTLogo"; import PPOTLogo from "../../assets/PPPOTLogo"; +import { grey } from "@mui/material/colors"; const styles = { homeboxContainer: { overflow: "visible", - padding: "30px 60px", - maxWidth: "800px", + padding: "48px 96px 48px", + maxWidth: "900px", margin: "auto", + backround: grey[50], }, homeboxHeader: { textAlign: "center", @@ -19,21 +22,47 @@ const styles = { maxWidth: "30rem", width: "100%", }, + dataPolicy: { + borderRadius: 2, + padding: "24px 48px", + maxWidth: "900px", + margin: "auto", + mt: 2, + backgroundColor: grey[50], + }, }; function HomeBox({ children }) { + const { isPartnerPreview } = usePermissions(); return ( - + - {config.profile.isPartnerPreview ? ( - - ) : ( - - )} + {isPartnerPreview ? : } {children} + {isPartnerPreview && ( + + + The Open Targets Partner Preview Platform is for consortium members only. Data is + confidential, pre-publication, and subject to change. See release notes for known + issues.{" "} + Use is restricted to partner organizations; other access is prohibited. + + + + + View our data policy + + + + + )} ); } diff --git a/apps/platform/src/pages/HomePage/HomePage.jsx b/apps/platform/src/pages/HomePage/HomePage.jsx index 3701a52b4..78915c132 100644 --- a/apps/platform/src/pages/HomePage/HomePage.jsx +++ b/apps/platform/src/pages/HomePage/HomePage.jsx @@ -1,9 +1,8 @@ -import { Grid, Typography, Hidden, Box, useMediaQuery, IconButton } from "@mui/material"; - -import { makeStyles, useTheme } from "@mui/styles"; +import { Grid, Typography, Box, useMediaQuery, Chip } from "@mui/material"; +import { makeStyles, styled, useTheme } from "@mui/styles"; import { Helmet } from "react-helmet"; +import { Footer, GlobalSearch, Link, NavBar, usePermissions } from "ui"; -import { Footer, Link, PrivateWrapper, NavBar, GlobalSearch } from "ui"; import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; import { faCircle, @@ -13,6 +12,10 @@ import { faQuestionCircle, faFileAlt, faCommentDots, + faStethoscope, + faDna, + faPrescriptionBottleMedical, + faMapPin, } from "@fortawesome/free-solid-svg-icons"; import { appTitle, @@ -24,9 +27,9 @@ import { import HomeBox from "./HomeBox"; import Splash from "./Splash"; import Version from "./Version"; -import { getSuggestedSearch } from "../../utils/global"; import config from "../../config"; +import { grey } from "@mui/material/colors"; const useStyles = makeStyles(() => ({ links: { @@ -35,9 +38,6 @@ const useStyles = makeStyles(() => ({ api: { marginTop: "38px", }, - hpSection: { - marginBottom: "40px", - }, dataPolicy: { padding: "10px", marginTop: "30px", @@ -56,6 +56,85 @@ const usePanelStyles = makeStyles(theme => ({ }, })); +const StyledChip = styled(Chip)(({ theme }) => ({ + border: 1, + "&:hover": { + color: theme.palette.primary.dark, + background: grey[100], + }, + "&:hover .MuiChip-icon": { + color: theme.palette.primary.dark, + }, +})); + +function AboutPPP() { + return ( + + + + About the Open Targets Platform + + + + The Open Targets Partner Preview Platform is an extension of the Open Targets Platform, a + comprehensive tool that supports systematic identification and prioritisation of potential + therapeutic drug targets. + + + + Combining publicly available datasets with pre-publication data generated by the + consortium, the Partner Preview Platform builds and scores target-disease associations to + assist in drug target identification and prioritisation. It also integrates relevant + annotation information about targets, diseases, phenotypes, and drugs, as well as their + most relevant relationships. + + + + The Partner Preview version of the Open Targets Platform is only available to members of + the Open Targets consortium. It is actively maintained with regular data updates. Data is + available through an intuitive user interface, and a partner-specific API which includes + the pre-publication data. The public data is available through data downloads, while + pre-publication data can be requested through the intranet (home.opentargets.org). The + pipeline and infrastructure codebases are open-source and the licence allows the creation + of self-hosted private instances of the Platform with custom data. + + + + ); +} + +function AboutPublic() { + return ( + + + + About the Open Targets Platform + + + + The Open Targets Platform is a comprehensive tool that supports systematic identification + and prioritisation of potential therapeutic drug targets. + + + + By integrating publicly available datasets including data generated by the Open Targets + consortium, the Platform builds and scores target-disease associations to assist in drug + target identification and prioritisation. It also integrates relevant annotation + information about targets, diseases, phenotypes, and drugs, as well as their most relevant + relationships. + + + + The Platform is a freely available resource that is actively maintained with bi-monthly + data updates. Data is available through an intuitive user interface, an API, and data + downloads. The pipeline and infrastructure codebases are open-source and the licence + allows the creation of self-hosted private instances of the Platform with custom data. + + + + ); +} + function HelpBoxPanel({ fai, url, label, external }) { const theme = useTheme(); const xsMQ = useMediaQuery(theme.breakpoints.down("xs")); @@ -94,6 +173,10 @@ function HelpBoxPanel({ fai, url, label, external }) { } function HomePage({ suggestions }) { + const { isPartnerPreview } = usePermissions(); + const releaseNotesURL = isPartnerPreview + ? "http://home.opentargets.org/ppp-release-notes" + : "https://platform-docs.opentargets.org/release-notes"; const classes = useStyles(); const handleScrollDown = () => { @@ -111,140 +194,112 @@ function HomePage({ suggestions }) { - - + {/* Search examples */} + - {suggestions[0].name} + } + label={suggestions[0].name} + /> + + + } + label={suggestions[1].name} + /> - - - {suggestions[1].name} - - - - {suggestions[2].name} + } + label={suggestions[2].name} + /> + + + } + label={suggestions[3].name} + /> - - - {suggestions[3].name} - - - - {suggestions[4].name} + } + label={suggestions[4].name} + /> + + + } + label={suggestions[5].name} + /> - - - {suggestions[5].name} - - - - - - {suggestions[6].name} + } + label={suggestions[6].name} + /> - - - - {suggestions[7].name} - - - - - {suggestions[8].name} + + } + label={suggestions[7].name} + /> + + + } + label={suggestions[8].name} + /> - - - -
- - The Open Targets Partner Preview Platform is provided exclusively to Open Targets - consortium members. All data and results of queries must remain confidential and - must not be shared publicly. - - - - - View our data policy - - - -
-
+
+ +
{/* scroll down button */} - - +
{/* About */} - - - - About the Open Targets Platform - - - - The Open Targets Platform is a comprehensive tool that supports systematic - identification and prioritisation of potential therapeutic drug targets. - - - - By integrating publicly available datasets including data generated by the Open Targets - consortium, the Platform builds and scores target-disease associations to assist in drug - target identification and prioritisation. It also integrates relevant annotation - information about targets, diseases, phenotypes, and drugs, as well as their most - relevant relationships. - - - - The Platform is a freely available resource that is actively maintained with bi-monthly - data updates. Data is available through an intuitive user interface, an API, and data - downloads. The pipeline and infrastructure codebases are open-source and the licence - allows the creation of self-hosted private instances of the Platform with custom data. - - - + {isPartnerPreview ? : } {/* Get started */} - - + + Get started with the Platform - + diff --git a/apps/platform/src/pages/HomePage/PPHomePage.jsx b/apps/platform/src/pages/HomePage/PPHomePage.jsx deleted file mode 100644 index c058ed254..000000000 --- a/apps/platform/src/pages/HomePage/PPHomePage.jsx +++ /dev/null @@ -1,281 +0,0 @@ -import { Grid, Typography, Hidden, Box, useMediaQuery } from "@mui/material"; - -import { makeStyles, useTheme } from "@mui/styles"; -import { Helmet } from "react-helmet"; -import { Footer, GlobalSearch, Link, NavBar } from "ui"; - -import { FontAwesomeIcon } from "@fortawesome/react-fontawesome"; -import { - faCircle, - faChevronDown, - faDownload, - faLaptopCode, - faQuestionCircle, - faFileAlt, - faCommentDots, -} from "@fortawesome/free-solid-svg-icons"; -import { - appTitle, - appDescription, - appCanonicalUrl, - externalLinks, - mainMenuItems, -} from "../../constants"; -import HomeBox from "./HomeBox"; -import Splash from "./Splash"; -import Version from "./Version"; - -import config from "../../config"; -import { getSuggestedSearch } from "../../utils/global"; - -const useStyles = makeStyles(() => ({ - links: { - marginTop: "12px", - }, - api: { - marginTop: "38px", - }, - hpSection: { - marginBottom: "40px", - }, - dataPolicy: { - padding: "10px", - marginTop: "30px", - border: "2px solid", - borderColor: config.profile.primaryColor, - }, -})); - -const usePanelStyles = makeStyles(theme => ({ - helpBoxes: { - maxWidth: "120px", - textAlign: "center", - [theme.breakpoints.down("xs")]: { - textAlign: "left", - }, - }, -})); - -function HelpBoxPanel({ fai, url, label, external }) { - const theme = useTheme(); - const xsMQ = useMediaQuery(theme.breakpoints.down("xs")); - - const classes = usePanelStyles(); - - if (xsMQ) { - // on xsmall screens - return ( - - - -
- - -
-
- - {label} - -
- - ); - } - return ( - - -
- - -
- {label} - -
- ); -} - -function HomePage({ suggestions }) { - const classes = useStyles(); - - const handleScrollDown = () => { - window.scrollTo({ top: window.innerHeight, left: 0, behavior: "smooth" }); - }; - - return ( - <> - - - - - - - - - - {/* Search examples */} - - {suggestions[0].name} - - {suggestions[1].name} - - - {suggestions[2].name} - - {suggestions[3].name} - - - {suggestions[4].name} - - {suggestions[5].name} - - - - {suggestions[6].name} - - - {suggestions[7].name} - - - {suggestions[8].name} - - -
- - The Open Targets Partner Preview Platform is provided exclusively to Open Targets - consortium members. All data and results of queries must remain confidential and must - not be shared publicly. Please note that data from OTAR projects is pre-publication, - being actively worked on by projects teams and therefore subject to change through - further analysis — our release notes contain details of any known issues with data - sets.{" "} - - The Open Targets Partner Preview Platform is provided exclusively for use by Open - Targets partner organisations, any other usage or access is prohibited. - - - - - - View our data policy - - - -
-
- - {/* scroll down button */} - -
- - -
-
-
- - {/* About */} - - - - About the Open Targets Platform - - - - The Open Targets Partner Preview Platform is an extension of the Open Targets Platform, - a comprehensive tool that supports systematic identification and prioritisation of - potential therapeutic drug targets. - - - - Combining publicly available datasets with pre-publication data generated by the - consortium, the Partner Preview Platform builds and scores target-disease associations - to assist in drug target identification and prioritisation. It also integrates relevant - annotation information about targets, diseases, phenotypes, and drugs, as well as their - most relevant relationships. - - - - The Partner Preview version of the Open Targets Platform is only available to members of - the Open Targets consortium. It is actively maintained with regular data updates. Data - is available through an intuitive user interface, and a partner-specific API which - includes the pre-publication data. The public data is available through data downloads, - while pre-publication data can be requested through the intranet (home.opentargets.org). - The pipeline and infrastructure codebases are open-source and the licence allows the - creation of self-hosted private instances of the Platform with custom data. - - - - - {/* Get started */} - - - - Get started with the Platform - - - - - - - - - - - - - - - - - - - - - - - - - - - {/* remove for integration day */} - {/* */} -