{
  "id": 11320,
  "label": "thyroid dyshormonogenesis 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010137",
  "properties": {
    "xrefs": [
      "DOID:0112184",
      "GARD:0018192",
      "MEDGEN:87430",
      "MESH:C562771",
      "OMIM:274900",
      "SCTID:63127008",
      "UMLS:C0342196"
    ],
    "synonyms": [
      "DUOXA2 familial thyroid dyshormonogenesis",
      "TDH5",
      "familial thyroid dyshormonogenesis caused by mutation in DUOXA2",
      "hypothyroidism, congenital, due to dyshormonogenesis, 5",
      "thyroid dyshormonogenesis 5",
      "thyroid dyshormonogenesis type 5",
      "thyroid hormonogenesis, genetic defect in, 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11315,
      "label": "familial thyroid dyshormonogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18613,
        23532
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112183",
          "GARD:0016843",
          "MEDGEN:903446",
          "MESH:C564766",
          "NCIT:C121751",
          "OMIMPS:274400",
          "Orphanet:95716",
          "SCTID:718183003",
          "UMLS:C4273748"
        ],
        "synonyms": [
          "dyshormonogenesis",
          "nongoitrous hyperthyrotropinemia",
          "thyroid dyshormonogenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis."
      },
      "child_count": 12,
      "reference_id": "MONDO:0010132"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11315,
      "label": "familial thyroid dyshormonogenesis"
    }
  ]
}