{
  "id": 3557,
  "label": "thyroid hormone resistance syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001328",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 23532,
      "label": "inherited thyroid metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5187,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025937",
          "ICD9:246.8",
          "MEDGEN:543589",
          "SCTID:36985004",
          "UMLS:C0271824"
        ],
        "synonyms": [
          "inborn error of thyroid hormone metabolic process",
          "inborn thyroid hormone metabolic process disorder",
          "inherited disorder of thyroid metabolism",
          "rare inborn error of thyroid hormone metabolic process"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process."
      },
      "child_count": 4,
      "reference_id": "MONDO:0045046"
    }
  ],
  "children": [
    {
      "id": 10294,
      "label": "generalized resistance to thyroid hormone",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3557,
        6233
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0009043"
    },
    {
      "id": 20118,
      "label": "selective peripheral resistance to thyroid hormone",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3557
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025218"
        ],
        "synonyms": [
          "PerRTH"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020711"
    },
    {
      "id": 22783,
      "label": "resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3557
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022275",
          "MEDGEN:1830097",
          "Orphanet:566231",
          "UMLS:C5680127"
        ],
        "synonyms": [
          "resistance to thyroid hormone alpha"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0034216"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 23532,
      "label": "inherited thyroid metabolism disease"
    }
  ]
}