{
  "id": 11319,
  "label": "thyroid dyshormonogenesis 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010136",
  "properties": {
    "xrefs": [
      "DOID:0112188",
      "GARD:0018191",
      "MEDGEN:87429",
      "MESH:C562770",
      "OMIM:274800",
      "SCTID:17885001",
      "UMLS:C0342195"
    ],
    "synonyms": [
      "IYD familial thyroid dyshormonogenesis",
      "TDH4",
      "familial thyroid dyshormonogenesis caused by mutation in IYD",
      "hypothyroidism, congenital, due to dyshormonogenesis, 4",
      "thyroid dyshormonogenesis 4",
      "thyroid dyshormonogenesis type 4",
      "thyroid hormonogenesis, genetic defect in, 4",
      "deiodinase deficiency",
      "iodotyrosine dehalogenase deficiency"
    ],
    "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 IYD 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"
    }
  ]
}