{
  "id": 24800,
  "label": "thyroid hormone metabolism, abnormal 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800046",
  "properties": {
    "xrefs": [
      "GARD:0017068",
      "MEDGEN:1801974",
      "MESH:C566454",
      "OMIM:609698",
      "Orphanet:171706",
      "UMLS:C5676891"
    ],
    "synonyms": [
      "thyroid hormone metabolism, abnormal",
      "THMA1",
      "short stature-delayed bone age due to thyroid hormone metabolism deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16929,
      "label": "peripheral hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025073",
          "MEDGEN:1843430",
          "Orphanet:226310",
          "UMLS:C5704669"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016412"
    },
    {
      "id": 22244,
      "label": "thyroid hormone metabolism, abnormal",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:355288",
          "OMIMPS:609698",
          "UMLS:C1864761"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0031432"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16929,
      "label": "peripheral hypothyroidism"
    },
    {
      "id": 22244,
      "label": "thyroid hormone metabolism, abnormal"
    }
  ]
}