{
  "id": 9085,
  "label": "holoprosencephaly 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007733",
  "properties": {
    "xrefs": [
      "DOID:0110875",
      "GARD:0024572",
      "MEDGEN:327125",
      "MESH:C564181",
      "OMIM:142945",
      "UMLS:C1840529"
    ],
    "synonyms": [
      "HLP3",
      "HPE3",
      "SHH holoprosencephaly",
      "Shh holoprosencephaly",
      "holoprosencephaly 3",
      "holoprosencephaly caused by mutation in SHH",
      "holoprosencephaly caused by mutation in Shh",
      "holoprosencephaly type 3",
      "Hlp3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": [
    {
      "id": 9159,
      "label": "solitary median maxillary central incisor syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9085,
        17558
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004877",
          "MEDGEN:326686",
          "MESH:C537342",
          "OMIM:147250",
          "Orphanet:2286",
          "SCTID:707609006",
          "UMLS:C1840235",
          "icd11.foundation:1834868112"
        ],
        "synonyms": [
          "SMMCI",
          "single median maxillary central incisor",
          "single upper central incisor",
          "solitary median maxillary central incisor syndrome",
          "Fused incisors",
          "SMMCI syndrome",
          "incisors fused",
          "incisors, Fused",
          "single central maxillary incisor",
          "solitary MEDIAN maxillary central incisor"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007819"
    }
  ],
  "roots": [
    {
      "id": 16852,
      "label": "holoprosencephaly"
    }
  ]
}