{
  "id": 21740,
  "label": "holoprosencephaly 13, X-linked",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0026763",
  "properties": {
    "xrefs": [
      "DOID:0060954",
      "GARD:0025490",
      "MEDGEN:1714826",
      "OMIM:301043",
      "UMLS:C5393308"
    ],
    "synonyms": [
      "holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominant",
      "HOLOPROSENCEPHALY 13, X-LINKED",
      "HPE13"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16852,
      "label": "holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        16087,
        18727,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4621",
          "GARD:0006665",
          "ICD10CM:Q04.2",
          "MEDGEN:38214",
          "MESH:D016142",
          "MedDRA:10056304",
          "NANDO:2200819",
          "NCIT:C74988",
          "NORD:1247",
          "OMIMPS:236100",
          "Orphanet:2162",
          "SCTID:30915001",
          "UMLS:C0079541",
          "icd11.foundation:1712699129"
        ],
        "synonyms": [
          "HPE",
          "holoprosencephaly sequence"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity."
      },
      "child_count": 85,
      "reference_id": "MONDO:0016296"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080012",
          "MEDGEN:1798083",
          "UMLS:C5566660"
        ],
        "definition": "X-linked recessive form of disease."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020605"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16852,
      "label": "holoprosencephaly"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease"
    }
  ]
}