{
  "id": 10294,
  "label": "generalized resistance to thyroid hormone",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009043",
  "properties": {
    "xrefs": [
      "GARD:0000301",
      "MEDGEN:1654700",
      "Orphanet:3221",
      "UMLS:C4722330"
    ],
    "synonyms": [
      "GRTH",
      "Refetoff syndrome",
      "deafness-thyroid hormone resistance syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "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"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 19579,
      "label": "thyroid ectopia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016841",
          "MEDGEN:78591",
          "NANDO:2200330",
          "Orphanet:95712",
          "UMLS:C0266283",
          "icd11.foundation:458251984"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019854"
    },
    {
      "id": 19580,
      "label": "athyreosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016842",
          "MEDGEN:155447",
          "NANDO:2200331",
          "Orphanet:95713",
          "UMLS:C0749420"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019855"
    },
    {
      "id": 19583,
      "label": "thyroid hemiagenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016844",
          "MEDGEN:868785",
          "Orphanet:95719",
          "SCTID:715734006",
          "UMLS:C4023190",
          "icd11.foundation:872920513"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019860"
    },
    {
      "id": 19584,
      "label": "thyroid hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008426",
          "MEDGEN:57720",
          "MedDRA:10065938",
          "Orphanet:95720",
          "UMLS:C0151516",
          "icd11.foundation:936952450"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019861"
    }
  ],
  "roots": [
    {
      "id": 3557,
      "label": "thyroid hormone resistance syndrome"
    },
    {
      "id": 6233,
      "label": "hyperthyroidism"
    }
  ]
}