{
  "id": 24776,
  "label": "resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700478",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3557,
      "label": "thyroid hormone resistance syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23532
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11633",
          "GARD:0022922",
          "ICD9:259.8",
          "MEDGEN:424854",
          "MESH:D018382",
          "NANDO:1200395",
          "NANDO:2100121",
          "NANDO:2200341",
          "SCTID:111567006",
          "UMLS:C2940786"
        ],
        "synonyms": [
          "generalised thyroid hormone resistance",
          "RTH",
          "TSH resistance",
          "resistance to thyroid stimulating hormone",
          "resistance to thyrotropin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine."
      },
      "child_count": 4,
      "reference_id": "MONDO:0001328"
    }
  ],
  "children": [
    {
      "id": 9130,
      "label": "selective pituitary resistance to thyroid hormone",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6233,
        24776
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007784"
    },
    {
      "id": 9856,
      "label": "thyroid hormone resistance, generalized, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10294,
        24776
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024633",
          "MEDGEN:424846",
          "MESH:C567934",
          "OMIM:188570",
          "UMLS:C2937288"
        ],
        "synonyms": [
          "thyroid hormone resistance",
          "thyroid hormone resistance, generalized, autosomal dominant",
          "GRTH",
          "Gthr",
          "hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones",
          "thyroid hormone unresponsiveness"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008569"
    },
    {
      "id": 11314,
      "label": "thyroid hormone resistance, generalized, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10294,
        24776
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024711",
          "HGNC:11799",
          "MEDGEN:483749",
          "MESH:C567936",
          "NANDO:1200395",
          "NANDO:2100121",
          "NANDO:2200341",
          "NCIT:C85191",
          "OMIM:274300",
          "UMLS:C3489796"
        ],
        "synonyms": [
          "thyroid hormone resistance",
          "thyroid hormone resistance syndrome",
          "thyroid hormone resistance, autosomal recessive",
          "thyroid hormone resistance, generalized, autosomal recessive",
          "GRTH",
          "Gthr",
          "Refetoff syndrome",
          "THRB",
          "thyroid hormone receptor BETA",
          "thyroid hormone unresponsiveness"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010131"
    }
  ],
  "roots": [
    {
      "id": 3557,
      "label": "thyroid hormone resistance syndrome"
    }
  ]
}