{
  "id": 16927,
  "label": "central congenital hypothyroidism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016410",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16926,
      "label": "permanent congenital hypothyroidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16330,
        18613
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016408"
    }
  ],
  "children": [
    {
      "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": 11323,
      "label": "isolated thyrotropin-releasing hormone deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16927
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017179",
          "ICD9:253.4",
          "MEDGEN:854700",
          "NCIT:C121741",
          "OMIM:275120",
          "Orphanet:238670",
          "SCTID:10736002",
          "UMLS:C3887992"
        ],
        "synonyms": [
          "isolated TRF deficiency",
          "isolated TRH deficiency",
          "isolated TSH-releasing factor deficiency",
          "isolated prothyroliberin deficiency",
          "isolated protirelin deficiency",
          "isolated thyroliberin deficiency",
          "isolated thyrotropin-releasing factor deficiency",
          "tertiary hypothyroidism",
          "TRH deficiency",
          "hypothalamic hypothyroidism",
          "thyrotropin-releasing hormone deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010140"
    },
    {
      "id": 11633,
      "label": "X-linked central congenital hypothyroidism with late-onset testicular enlargement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        4370,
        16927
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111140",
          "GARD:0017499",
          "MEDGEN:763877",
          "NCIT:C130989",
          "OMIM:300888",
          "Orphanet:329235",
          "UMLS:C3550963"
        ],
        "synonyms": [
          "CHTE",
          "IGSF1 deficiency syndrome",
          "Immunoglobulin superfamily member 1 deficiency syndrome",
          "X-linked central congenital hypothyroidism with late-onset macroorchidism",
          "X-linked central congenital hypothyroidism with late-onset testicular enlargement",
          "hypothyroidism Central and testicular enlargement",
          "hypothyroidism, central, and testicular enlargement, X-linked recessive",
          "hypothyroidism, central, and testicular enlargement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010475"
    },
    {
      "id": 16928,
      "label": "hypothyroidism due to deficient transcription factors involved in pituitary development or function",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16927
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020562",
          "MEDGEN:900830",
          "Orphanet:226307",
          "UMLS:C4273672"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016411"
    },
    {
      "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": 16926,
      "label": "permanent congenital hypothyroidism"
    }
  ]
}