{
  "id": 8871,
  "label": "dyskeratosis congenita, autosomal dominant 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007485",
  "properties": {
    "xrefs": [
      "DOID:0070014",
      "GARD:0006299",
      "MEDGEN:1645250",
      "MESH:C565079",
      "NCIT:C176921",
      "OMIM:127550",
      "SCTID:707273001",
      "UMLS:C4551974"
    ],
    "synonyms": [
      "DKCA1",
      "dyskeratosis congenita, Scoggins type",
      "dyskeratosis congenita, autosomal dominant 1",
      "dyskeratosis congenita, autosomal dominant type 1",
      "DKCA",
      "autosomal dominant dyskeratosis congenita",
      "autosomal dominant dyskeratosis congenita 1",
      "dyskeratosis congenita Scoggins type",
      "dyskeratosis congenita autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 23885,
      "label": "telomere syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19146
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026060",
          "MEDGEN:1668986",
          "NCIT:C152065",
          "UMLS:C4727832"
        ],
        "synonyms": [
          "STS",
          "short telomere syndrome"
        ],
        "definition": "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths."
      },
      "child_count": 7,
      "reference_id": "MONDO:0100137"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16534,
      "label": "dyskeratosis congenita"
    },
    {
      "id": 23885,
      "label": "telomere syndrome"
    }
  ]
}