{
  "id": 16534,
  "label": "dyskeratosis congenita",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015780",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 16,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    }
  ],
  "children": [
    {
      "id": 8871,
      "label": "dyskeratosis congenita, autosomal dominant 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16534,
        23885
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007485"
    },
    {
      "id": 10380,
      "label": "dyskeratosis congenita, autosomal recessive 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070015",
          "GARD:0006300",
          "MEDGEN:341705",
          "MESH:C565611",
          "NCIT:C176925",
          "OMIM:224230",
          "SCTID:707272006",
          "UMLS:C1857144"
        ],
        "synonyms": [
          "DKCB1",
          "dyskeratosis congenita, autosomal recessive 1",
          "dyskeratosis congenita, autosomal recessive type 1",
          "DKCB",
          "autosomal recessive dyskeratosis congenita",
          "autosomal recessive dyskeratosis congenita 1",
          "dyskeratosis congenita autosomal recessive"
        ],
        "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 NOLA3 on chromosome 15q14."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009136"
    },
    {
      "id": 11188,
      "label": "Revesz syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16534,
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070026",
          "GARD:0004695",
          "MEDGEN:231230",
          "MESH:C538371",
          "NCIT:C152064",
          "OMIM:268130",
          "Orphanet:3088",
          "SCTID:723512008",
          "UMLS:C1327916"
        ],
        "synonyms": [
          "DKCA5",
          "Revesz syndrome",
          "Revesz-DeBuse syndrome",
          "dyskeratosis congenita with bilateral exudative retinopathy",
          "dyskeratosis congenita, autosomal dominant 5",
          "exudative retinopathy with bone marrow failure",
          "retinopathy-anemia-central nervous system anomalies syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009990"
    },
    {
      "id": 14549,
      "label": "dyskeratosis congenita, autosomal recessive 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16534
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013519"
    },
    {
      "id": 14550,
      "label": "dyskeratosis congenita, autosomal recessive 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070019",
          "GARD:0015740",
          "MEDGEN:462792",
          "NCIT:C176927",
          "OMIM:613988",
          "UMLS:C3151442"
        ],
        "synonyms": [
          "DKCB3",
          "dyskeratosis congenita, autosomal recessive 3",
          "dyskeratosis congenita, autosomal recessive type 3",
          "autosomal recessive dyskeratosis congenita 3"
        ],
        "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 WRAP53 on chromosome 17p13.1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013520"
    },
    {
      "id": 14551,
      "label": "dyskeratosis congenita, autosomal dominant 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070016",
          "GARD:0015741",
          "MEDGEN:462793",
          "NCIT:C176922",
          "OMIM:613989",
          "UMLS:C3151443"
        ],
        "synonyms": [
          "DKCA2",
          "dyskeratosis congenita, autosomal dominant 2",
          "dyskeratosis congenita, autosomal dominant type 2",
          "autosomal dominant dyskeratosis congenita 2",
          "dyskeratosis congenita, autosomal recessive 4"
        ],
        "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 TERT on chromosome 5p15.33."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013521"
    },
    {
      "id": 14552,
      "label": "dyskeratosis congenita, autosomal dominant 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070018",
          "GARD:0015742",
          "MEDGEN:462795",
          "NCIT:C176923",
          "OMIM:613990",
          "UMLS:C3151445"
        ],
        "synonyms": [
          "DKCA3",
          "dyskeratosis congenita, autosomal dominant 3",
          "dyskeratosis congenita, autosomal dominant type 3",
          "autosomal dominant dyskeratosis congenita 3"
        ],
        "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 TINF2 on chromosome 14q12."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013522"
    },
    {
      "id": 15598,
      "label": "dyskeratosis congenita, autosomal recessive 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070024",
          "GARD:0016095",
          "MEDGEN:905452",
          "NCIT:C176929",
          "OMIM:616353",
          "UMLS:C4225356"
        ],
        "synonyms": [
          "DKCB6",
          "PARN dyskeratosis congenita",
          "dyskeratosis congenita caused by mutation in PARN",
          "dyskeratosis congenita, autosomal recessive 6",
          "dyskeratosis congenita, autosomal recessive type 6",
          "autosomal recessive dyskeratosis congenita 6"
        ],
        "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 PARN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014600"
    },
    {
      "id": 15685,
      "label": "dyskeratosis congenita, autosomal dominant 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        7217,
        16534,
        24293
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014690"
    },
    {
      "id": 21751,
      "label": "autosomal recessive dyskeratosis congenita 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070021",
          "GARD:0025496",
          "MEDGEN:462794",
          "UMLS:C3151444"
        ],
        "synonyms": [
          "dyskeratosis congenita, autosomal recessive 4"
        ],
        "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 TERT on chromosome 5p15.33."
      },
      "child_count": 0,
      "reference_id": "MONDO:0027353"
    },
    {
      "id": 22213,
      "label": "dyskeratosis congenita, digenic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060984",
          "GARD:0025688",
          "MEDGEN:1823990",
          "OMIM:620040",
          "UMLS:C5774217"
        ],
        "synonyms": [
          "DKCD",
          "dyskeratosis congenita, digenic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031057"
    },
    {
      "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"
    },
    {
      "id": 24955,
      "label": "dyskeratosis congenita, autosomal dominant 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070020",
          "GARD:0026525",
          "MEDGEN:815132",
          "UMLS:C3808802"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800366"
    },
    {
      "id": 24959,
      "label": "dyskeratosis congenita, autosomal recessive 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16534,
        24293
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026529",
          "MEDGEN:903803",
          "UMLS:C4225283"
        ],
        "synonyms": [
          "DKCB7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800370"
    },
    {
      "id": 25053,
      "label": "dyskeratosis congenita and related telomere biology disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026567"
        ],
        "synonyms": [
          "dyskeratosis congenita and related telomere biology disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800467"
    },
    {
      "id": 25452,
      "label": "dyskeratosis congenita, autosomal recessive 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026695",
          "MEDGEN:1824030",
          "OMIM:620133",
          "UMLS:C5774257"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859319"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}