{
  "id": 20764,
  "label": "Al Gazali Khidr Prem Chandran syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021838",
  "properties": {
    "xrefs": [
      "GARD:0000586",
      "MEDGEN:419678",
      "MESH:C535616",
      "UMLS:C2930951"
    ],
    "synonyms": [
      "cherubism, optic atrophy and short stature"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 8714,
      "label": "cherubism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        6893,
        16089,
        16218,
        19503,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1856",
          "GARD:0006036",
          "ICD9:526.89",
          "MEDGEN:40219",
          "MESH:D002636",
          "MedDRA:10070535",
          "NANDO:2200444",
          "NCIT:C84630",
          "OMIM:118400",
          "Orphanet:184",
          "SCTID:76098004",
          "UMLS:C0008029",
          "icd11.foundation:1729261719"
        ],
        "synonyms": [
          "CRBM",
          "cherubism",
          "familial fibrous dysplasia of the jaws",
          "familial multilocular cystic disease of the jaws",
          "Crbm"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007315"
    },
    {
      "id": 19770,
      "label": "autosomal dominant optic atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19769,
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011972",
          "MEDGEN:1647918",
          "MESH:D029241",
          "NCIT:C84577",
          "Orphanet:98672",
          "SCTID:2065009",
          "UMLS:C4551508"
        ],
        "synonyms": [
          "ADOA",
          "DOA",
          "optic atrophy, autosomal dominant",
          "dominant optic atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss."
      },
      "child_count": 18,
      "reference_id": "MONDO:0020250"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 8714,
      "label": "cherubism"
    },
    {
      "id": 19770,
      "label": "autosomal dominant optic atrophy"
    }
  ]
}