{
  "id": 10581,
  "label": "holoprosencephaly 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009349",
  "properties": {
    "xrefs": [
      "DOID:0110881",
      "GARD:0024660",
      "MEDGEN:78617",
      "NCIT:C75476",
      "OMIM:236100",
      "UMLS:C0266667"
    ],
    "synonyms": [
      "Hpe, familial",
      "cyclopia",
      "HPE1",
      "holoprosencephaly 1",
      "holoprosencephaly 1, isolated cases",
      "holoprosencephaly type 1",
      "Demyer sequence",
      "arhinencephaly",
      "holoprosencephaly, familial Alobar",
      "isolated arhinencephaly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16852,
      "label": "holoprosencephaly"
    }
  ]
}