{
  "id": 2710,
  "label": "hypothyroidism, congenital, nongoitrous",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000045",
  "properties": {
    "xrefs": [
      "GARD:0022704",
      "OMIMPS:275200"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "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": 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": 10398,
      "label": "hypothyroidism, congenital, nongoitrous, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070125",
          "GARD:0015165",
          "MEDGEN:388687",
          "MESH:C567123",
          "OMIM:225250",
          "UMLS:C2673630"
        ],
        "synonyms": [
          "CHNG5",
          "NKX2-5 hypothyroidism, congenital, nongoitrous",
          "hypothyroidism, congenital nongoitrous, 5",
          "hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5",
          "hypothyroidism, congenital, nongoitrous, 5",
          "hypothyroidism, congenital, nongoitrous, type 5",
          "congenital nongoitrous hypothyroidism 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009154"
    },
    {
      "id": 11322,
      "label": "isolated thyroid-stimulating hormone deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710,
        16927,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070123",
          "GARD:0010129",
          "MEDGEN:78786",
          "OMIM:275100",
          "Orphanet:90674",
          "UMLS:C0271789"
        ],
        "synonyms": [
          "CHNG4",
          "hypothyroidism, congenital, nongoitrous 4",
          "hypothyroidism, congenital, nongoitrous, type 4",
          "isolated TSH deficiency",
          "isolated thyrotropin deficiency",
          "TSH deficiency",
          "congenital nongoitrous hypothyroidism 4",
          "hypothyroidism, congenital, nongoitrous, 4",
          "pituitary cretinism",
          "thyroid-stimulating hormone deficiency",
          "thyroid-stimulating hormone, deficiency of",
          "thyrotropin deficiency, isolated",
          "thyrotropin, biologically inactive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010139"
    },
    {
      "id": 11325,
      "label": "hypothyroidism due to TSH receptor mutations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070126",
          "GARD:0016793",
          "MEDGEN:487729",
          "OMIM:275200",
          "Orphanet:90673",
          "UMLS:C3493776"
        ],
        "synonyms": [
          "CHNG1",
          "TSH resistance",
          "hypothyroidism, congenital, nongoitrous, type 1",
          "congenital nongoitrous hypothyroidism 1",
          "hypothyroidism due to unresponsiveness to thyrotropin",
          "hypothyroidism, Nonautoimmune",
          "hypothyroidism, congenital, due to TSH resistance",
          "hypothyroidism, congenital, nongoitrous, 1",
          "thyroid-stimulating hormone, resistance to",
          "thyrotropin resistance"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010142"
    },
    {
      "id": 13412,
      "label": "congenital nongoitrous hypothyroidism 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710,
        19705
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070127",
          "GARD:0024862",
          "MEDGEN:424853",
          "MESH:C567935",
          "OMIM:609893",
          "UMLS:C2940785"
        ],
        "synonyms": [
          "CHNG3",
          "hypothyroidism, congenital, nongoitrous, 3",
          "resistance to thyrotropin",
          "thyrotropin resistance"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012360"
    },
    {
      "id": 14775,
      "label": "congenital nongoitrous hypothyroidism 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710,
        19705
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070128",
          "GARD:0024946",
          "MEDGEN:482447",
          "OMIM:614450",
          "UMLS:C3280817"
        ],
        "synonyms": [
          "CHNG6",
          "THRA hypothyroidism, congenital, nongoitrous",
          "hypothyroidism, congenital, nongoitrous caused by mutation in THRA",
          "hypothyroidism, congenital, nongoitrous, 6",
          "hypothyroidism, congenital, nongoitrous, type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013757"
    },
    {
      "id": 21305,
      "label": "hypothyroidism, congenital, nongoitrous, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070124",
          "GARD:0025378",
          "MEDGEN:358389",
          "MESH:C566852",
          "OMIM:218700",
          "UMLS:C1869118"
        ],
        "synonyms": [
          "CHNG2",
          "hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia",
          "hypothyroidism, congenital, nongoitrous, 2",
          "athyreotic hypothyroidism",
          "congenital nongoitrous hypothyroidism 2",
          "hypothyroidism, athyreotic",
          "hypothyroidism, congenital, due to thyroid dysgenesis",
          "resistance to thyrotropin",
          "thyroid agenesis",
          "thyroid dysgenesis",
          "thyroid hypoplasia",
          "thyroid, ectopic",
          "thyrotropin resistance"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024264"
    },
    {
      "id": 21736,
      "label": "hypothyroidism, congenital, nongoitrous, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111837",
          "GARD:0025486",
          "MEDGEN:1684717",
          "OMIM:301033",
          "UMLS:C5231395"
        ],
        "synonyms": [
          "CHNG8",
          "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0026731"
    },
    {
      "id": 21737,
      "label": "hypothyroidism, congenital, nongoitrous, 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111835",
          "GARD:0025487",
          "MEDGEN:1684807",
          "OMIM:301035",
          "UMLS:C5231396"
        ],
        "synonyms": [
          "hypothyroidism, congenital, nongoitrous, 9, X-linked recessive",
          "CHNG9",
          "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0026732"
    },
    {
      "id": 22476,
      "label": "hypothyroidism, congenital, nongoitrous, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710,
        16927
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111836",
          "GARD:0016914",
          "MEDGEN:349957",
          "OMIM:618573",
          "Orphanet:99832",
          "SCTID:725462002",
          "UMLS:C1861106"
        ],
        "synonyms": [
          "TRH resistance syndrome",
          "central hypothyroidism due to TRH receptor deficiency",
          "hypothyroidism, congenital, nongoitrous, 7",
          "resistance to thyrotropin-releasing hormone syndrome",
          "CHNG7",
          "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7",
          "thyrotropin-releasing hormone resistance, generalised",
          "thyrotropin-releasing hormone resistance, generalized"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032819"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18613,
      "label": "congenital hypothyroidism"
    }
  ]
}