{
  "id": 13264,
  "label": "familial hyperthyroidism due to mutations in TSH receptor",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012203",
  "properties": {
    "xrefs": [
      "DOID:0081101",
      "GARD:0002858",
      "MEDGEN:373154",
      "MESH:C563786",
      "OMIM:609152",
      "Orphanet:424",
      "UMLS:C1836706"
    ],
    "synonyms": [
      "familial non-immune hyperthyroidism",
      "resistance to thyroid stimulating hormone",
      "Nonautoimmune hyperthyroidism",
      "hyperthyroidism, NONAUTOIMMUNE",
      "hyperthyroidism, Nonautoimmune, autosomal dominant",
      "hyperthyroidism, congenital Nonautoimmune",
      "toxic thyroid hyperplasia, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6233,
      "label": "hyperthyroidism"
    }
  ]
}