{
  "id": 23894,
  "label": "DKC1-related disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100152",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16534,
      "label": "dyskeratosis congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2729",
          "GARD:0010905",
          "MEDGEN:78580",
          "MESH:D019871",
          "MedDRA:10062759",
          "NANDO:1200304",
          "NANDO:1200342",
          "NANDO:2200715",
          "NCIT:C111802",
          "NORD:1071",
          "OMIMPS:127550",
          "Orphanet:1775",
          "SCTID:74911008",
          "UMLS:C0265965",
          "icd11.foundation:1531033936"
        ],
        "synonyms": [
          "DC",
          "DKC",
          "Zinsser-Engman-Cole syndrome",
          "dyskeratosis congenita",
          "Hoyeraal-Hreidarsson syndrome",
          "Zinsser Cole Engman syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer."
      },
      "child_count": 32,
      "reference_id": "MONDO:0015780"
    }
  ],
  "children": [
    {
      "id": 11737,
      "label": "dyskeratosis congenita, X-linked",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        23894
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010584"
    }
  ],
  "roots": [
    {
      "id": 16534,
      "label": "dyskeratosis congenita"
    }
  ]
}