{
  "id": 11737,
  "label": "dyskeratosis congenita, X-linked",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010584",
  "properties": {
    "xrefs": [
      "DOID:0070025",
      "GARD:0002007",
      "MEDGEN:216941",
      "NCIT:C126352",
      "OMIM:305000",
      "SCTID:708536001",
      "UMLS:C1148551"
    ],
    "synonyms": [
      "DKCX",
      "Hoyeraal Hreidarsson syndrome",
      "X-linked dyskeratosis congenita",
      "Zinsser-Cole-Engman syndrome",
      "dyskeratosis congenita, X-linked",
      "dyskeratosis congenita, X-linked, X-linked recessive",
      "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia",
      "cerebellar hypoplasia with pancytopenia",
      "dyskeratosis congenita X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "X-linked form of dyskeratosis congenita."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 23894,
      "label": "DKC1-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026065"
        ],
        "synonyms": [
          "DKC1-related disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100152"
    }
  ],
  "children": [
    {
      "id": 18211,
      "label": "Hoyeraal-Hreidarsson syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11737,
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000346",
          "MEDGEN:337518",
          "MESH:C536068",
          "Orphanet:3322",
          "SCTID:707276009",
          "UMLS:C1846142",
          "icd11.foundation:340127408"
        ],
        "synonyms": [
          "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome",
          "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia",
          "Hoyeraal Hreidarsson syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018045"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 23894,
      "label": "DKC1-related disorder"
    }
  ]
}