{
  "id": 11325,
  "label": "hypothyroidism due to TSH receptor mutations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010142",
  "properties": {
    "xrefs": [
      "DOID:0070126",
      "GARD:0016793",
      "MEDGEN:487729",
      "OMIM:275200",
      "Orphanet:90673",
      "UMLS:C3493776"
    ],
    "synonyms": [
      "CHNG1",
      "TSH resistance",
      "hypothyroidism, congenital, nongoitrous, type 1",
      "congenital nongoitrous hypothyroidism 1",
      "hypothyroidism due to unresponsiveness to thyrotropin",
      "hypothyroidism, Nonautoimmune",
      "hypothyroidism, congenital, due to TSH resistance",
      "hypothyroidism, congenital, nongoitrous, 1",
      "thyroid-stimulating hormone, resistance to",
      "thyrotropin resistance"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2710,
      "label": "hypothyroidism, congenital, nongoitrous",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18613
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022704",
          "OMIMPS:275200"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0000045"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2710,
      "label": "hypothyroidism, congenital, nongoitrous"
    }
  ]
}