{
  "id": 13640,
  "label": "brain-lung-thyroid syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012593",
  "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)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "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": 7073,
      "label": "movement disorder"
    },
    {
      "id": 24245,
      "label": "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}