{
  "id": 26599,
  "label": "CHD7-related CHARGE syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1010178",
  "properties": {
    "xrefs": [
      "GARD:0028139",
      "OMIM:214800"
    ],
    "synonyms": [
      "CHARGE syndrome due to CHD7 deficiency",
      "CHD7-related CHARGE syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A CHARGE syndrome in which the cause of the disease is a variation in the CHD7 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10223,
      "label": "CHARGE syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16088,
        16526,
        20691,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050834",
          "GARD:0000029",
          "ICD9:759.89",
          "MEDGEN:75567",
          "MESH:D058747",
          "MedDRA:10064063",
          "NANDO:1200464",
          "NANDO:2200972",
          "NCIT:C75100",
          "NORD:920",
          "Orphanet:138",
          "SCTID:47535005",
          "UMLS:C0265354",
          "icd11.foundation:52086532"
        ],
        "synonyms": [
          "CHARGE association",
          "CHARGE syndrome",
          "Hall-Hittner syndrome",
          "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association",
          "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association",
          "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome",
          "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies",
          "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0008965"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10223,
      "label": "CHARGE syndrome"
    }
  ]
}