{
  "id": 11633,
  "label": "X-linked central congenital hypothyroidism with late-onset testicular enlargement",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010475",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16927,
      "label": "central congenital hypothyroidism"
    }
  ]
}