{
  "id": 14549,
  "label": "dyskeratosis congenita, autosomal recessive 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013519",
  "properties": {
    "xrefs": [
      "DOID:0070017",
      "GARD:0015739",
      "MEDGEN:462791",
      "NCIT:C176926",
      "OMIM:613987",
      "UMLS:C3151441"
    ],
    "synonyms": [
      "DKCB2",
      "dyskeratosis congenita, autosomal recessive 2",
      "dyskeratosis congenita, autosomal recessive type 2",
      "autosomal recessive dyskeratosis congenita 2"
    ],
    "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 recessive mutation of NOLA2 on chromosome 5q35.3."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16534,
      "label": "dyskeratosis congenita"
    }
  ]
}