{
  "id": 20265,
  "label": "hereditary progressive chorea without dementia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021011",
  "properties": {
    "xrefs": [
      "GARD:0025275",
      "MEDGEN:98278",
      "OMIM:118700",
      "UMLS:C0393584"
    ],
    "synonyms": [
      "BHC",
      "chorea, benign hereditary",
      "chorea, hereditary benign",
      "hereditary progressive chorea without dementia",
      "BCH"
    ],
    "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": 3794,
      "label": "choreatic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12859",
          "EFO:0004152",
          "GARD:0015152",
          "HP:0002072",
          "ICD9:333.5",
          "MEDGEN:3420",
          "MESH:D002819",
          "NCIT:C84633",
          "Orphanet:1429",
          "SCTID:230298007",
          "SCTID:230306001",
          "UMLS:C0008489",
          "icd11.foundation:829618737"
        ],
        "synonyms": [
          "benign familial chorea",
          "BHC",
          "chorea, benign hereditary",
          "hereditary benign chorea",
          "hereditary progressive chorea without dementia",
          "Bch",
          "hereditary chorea"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease."
      },
      "child_count": 5,
      "reference_id": "MONDO:0001595"
    },
    {
      "id": 24245,
      "label": "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027999"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998."
      },
      "child_count": 9,
      "reference_id": "MONDO:0100520"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3794,
      "label": "choreatic disease"
    },
    {
      "id": 24245,
      "label": "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}