{
  "id": 12875,
  "label": "thyroid dyshormonogenesis 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011792",
  "properties": {
    "xrefs": [
      "DOID:0112189",
      "GARD:0018193",
      "MEDGEN:375935",
      "MESH:C564608",
      "OMIM:607200",
      "Orphanet:226316",
      "UMLS:C1846632"
    ],
    "synonyms": [
      "DUOX2 familial thyroid dyshormonogenesis",
      "familial thyroid dyshormonogenesis caused by mutation in DUOX2",
      "thyroid dyshormonogenesis 6",
      "thyroid dyshormonogenesis type 6",
      "TDH6",
      "hypothyroidism, congenital, due to dyshormonogenesis, 6",
      "thyroid hormonogenesis, genetic defect in, 6"
    ],
    "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 DUOX2 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"
    }
  ]
}