{
  "id": 23532,
  "label": "inherited thyroid metabolism disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0045046",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5187,
      "label": "thyroid gland disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:50",
          "EFO:1000627",
          "ICD10CM:E00-E07",
          "ICD9:240-246",
          "ICD9:246.8",
          "ICD9:246.9",
          "MEDGEN:1378579",
          "MESH:D013959",
          "NCIT:C26893",
          "SCTID:14304000",
          "UMLS:C4317107",
          "Wikipedia:Thyroid_disease"
        ],
        "synonyms": [
          "disease of thyroid gland",
          "disease or disorder of thyroid gland",
          "disorder of thyroid gland",
          "thyroid disease",
          "thyroid gland disease",
          "thyroid gland disease or disorder",
          "thyroid gland diseases",
          "thyroid gland disorder",
          "thyroid gland disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the thyroid gland."
      },
      "child_count": 12,
      "reference_id": "MONDO:0003240"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    }
  ],
  "children": [
    {
      "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": 11315,
      "label": "familial thyroid dyshormonogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18613,
        23532
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112183",
          "GARD:0016843",
          "MEDGEN:903446",
          "MESH:C564766",
          "NCIT:C121751",
          "OMIMPS:274400",
          "Orphanet:95716",
          "SCTID:718183003",
          "UMLS:C4273748"
        ],
        "synonyms": [
          "dyshormonogenesis",
          "nongoitrous hyperthyrotropinemia",
          "thyroid dyshormonogenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis."
      },
      "child_count": 12,
      "reference_id": "MONDO:0010132"
    }
  ],
  "roots": [
    {
      "id": 5187,
      "label": "thyroid gland disorder"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    }
  ]
}