{
  "id": 24245,
  "label": "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100520",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    }
  ],
  "children": [
    {
      "id": 9854,
      "label": "thyroid cancer, nonmedullary, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6803,
        18106,
        24245
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024632",
          "MEDGEN:1648293",
          "OMIM:188550",
          "UMLS:C4721429"
        ],
        "synonyms": [
          "thyroid cancer, nonmedullary, 1",
          "thyroid cancer, nonmedullary, type 1",
          "NMTC1",
          "familial nonmedullary thyroid cancer, papillary",
          "nonmedullary thyroid carcinoma, papillary",
          "papillary carcinoma of thyroid"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008567"
    },
    {
      "id": 13640,
      "label": "brain-lung-thyroid syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        24245,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012163",
          "MEDGEN:369694",
          "MESH:C567034",
          "OMIM:610978",
          "Orphanet:209905",
          "SCTID:719098007",
          "UMLS:C1970269",
          "icd11.foundation:809856670"
        ],
        "synonyms": [
          "brain-lung-thyroid syndrome",
          "choreoathetosis, hypothyroidism, and neonatal respiratory distress",
          "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome",
          "BLT syndrome",
          "CAHTP",
          "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction",
          "choreoathetosis-hypothyroidism-neonatal respiratory distress"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012593"
    },
    {
      "id": 20265,
      "label": "hereditary progressive chorea without dementia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3794,
        24245,
        24270
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0021011"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6875,
      "label": "endocrine system disorder"
    }
  ]
}