{
  "id": 9130,
  "label": "selective pituitary resistance to thyroid hormone",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007784",
  "properties": {
    "xrefs": [
      "DOID:0111374",
      "GARD:0024576",
      "MEDGEN:333543",
      "MESH:C564154",
      "OMIM:145650",
      "Orphanet:165994",
      "UMLS:C1840364",
      "icd11.foundation:482664523"
    ],
    "synonyms": [
      "PRTH",
      "hyperthyroidism, familial, due to inappropriate thyrotropin secretion",
      "pituitary resistance to thyroid hormone",
      "thyroid hormone resistance, selective pituitary"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6233,
      "label": "hyperthyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5187
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7998",
          "EFO:0009189",
          "ICD9:242.90",
          "MEDGEN:6972",
          "MESH:D006980",
          "NANDO:2100119",
          "NANDO:2200329",
          "NCIT:C3123",
          "SCTID:34486009",
          "UMLS:C0020550"
        ],
        "synonyms": [
          "overactive thyroid"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor."
      },
      "child_count": 10,
      "reference_id": "MONDO:0004425"
    },
    {
      "id": 24776,
      "label": "resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3557
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028049",
          "Orphanet:566243"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic."
      },
      "child_count": 3,
      "reference_id": "MONDO:0700478"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6233,
      "label": "hyperthyroidism"
    },
    {
      "id": 24776,
      "label": "resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"
    }
  ]
}