{
  "id": 16926,
  "label": "permanent congenital hypothyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016408",
  "properties": {
    "xrefs": [
      "GARD:0020560",
      "MEDGEN:1843186",
      "Orphanet:226292",
      "UMLS:C5680893",
      "icd11.foundation:801729371"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020012",
          "MEDGEN:1842942",
          "MESH:D006130",
          "Orphanet:156643",
          "UMLS:C5680637"
        ],
        "synonyms": [
          "genetic endocrine growth disease",
          "growth disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0015514"
    },
    {
      "id": 18613,
      "label": "congenital hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7093
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050328",
          "GARD:0001487",
          "ICD9:243",
          "ICD9:269.3",
          "ICD9:759.89",
          "MEDGEN:41344",
          "MESH:D003409",
          "MedDRA:10010510",
          "NANDO:2200333",
          "NCIT:C26734",
          "Orphanet:442",
          "SCTID:190268003",
          "SCTID:217710005",
          "UMLS:C0010308",
          "icd11.foundation:602450215"
        ],
        "synonyms": [
          "congenital hypothyroidism",
          "congenital iodine deficiency syndrome",
          "congenital goiter",
          "congenital goitre",
          "congenital hypothyroidism not due to iodine deficiency",
          "cretinism",
          "fetal iodine deficiency syndrome",
          "foetal iodine deficiency syndrome",
          "infantile hypothyroidism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A thyroid hormone deficiency present from birth."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018612"
    }
  ],
  "children": [
    {
      "id": 16927,
      "label": "central congenital hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012280",
          "MEDGEN:927869",
          "NANDO:1200390",
          "NANDO:2200332",
          "NANDO:2200340",
          "NCIT:C113144",
          "Orphanet:226298",
          "UMLS:C4302200",
          "icd11.foundation:848364569"
        ],
        "synonyms": [
          "TSH deficiency",
          "central hypothyroidism",
          "hypothalamic-pituitary hypothyroidism",
          "secondary hypothyroidism",
          "thyroid stimulating hormone deficiency",
          "thyrotropin deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system."
      },
      "child_count": 5,
      "reference_id": "MONDO:0016410"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease"
    },
    {
      "id": 18613,
      "label": "congenital hypothyroidism"
    }
  ]
}