{
  "id": 15685,
  "label": "dyskeratosis congenita, autosomal dominant 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014690",
  "properties": {
    "xrefs": [
      "DOID:0070023",
      "GARD:0016136",
      "MEDGEN:904824",
      "NCIT:C176924",
      "OMIM:616553",
      "UMLS:C4225284"
    ],
    "synonyms": [
      "DKCA6",
      "dyskeratosis congenita, autosomal dominant 6",
      "dyskeratosis congenita, autosomal dominant type 6",
      "autosomal dominant dyskeratosis congenita 6",
      "dyskeratosis congenita, autosomal recessive 7"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 7217,
      "label": "hematologic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:74",
          "EFO:0005803",
          "GTR:AN1320635",
          "ICD10CM:D50-D89",
          "ICD9:280-289",
          "ICD9:289.8",
          "ICD9:289.9",
          "MEDGEN:5483",
          "MESH:D006402",
          "NANDO:1100006",
          "NANDO:2100175",
          "NCIT:C26323",
          "Orphanet:97992",
          "SCTID:414022008",
          "UMLS:C0018939"
        ],
        "synonyms": [
          "blood disease",
          "blood disorder",
          "disease of hematopoietic system",
          "disease of the blood and blood-forming organs",
          "disease or disorder of haematopoietic system",
          "disease or disorder of hematopoietic system",
          "disorder of haematopoietic system",
          "disorder of hematopoietic system",
          "haematological disease",
          "haematological disorder",
          "haematological system disease",
          "haematopoietic disease",
          "haematopoietic system disease or disorder",
          "hematologic and lymphocytic disorder",
          "hematologic disorder",
          "hematological disease",
          "hematological disorder",
          "hematological system disease",
          "hematopoietic disease",
          "hematopoietic system disease",
          "hematopoietic system disease or disorder",
          "rare hematologic disease",
          "haematological disorders and malignancies",
          "hematological disorders and malignancies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving the hematopoietic system."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005570"
    },
    {
      "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": 24293,
      "label": "ACD-related short telomere syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        25055
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026285"
        ],
        "definition": "A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100569"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 7217,
      "label": "hematologic disorder"
    },
    {
      "id": 16534,
      "label": "dyskeratosis congenita"
    },
    {
      "id": 24293,
      "label": "ACD-related short telomere syndrome"
    }
  ]
}