{
  "id": 11188,
  "label": "Revesz syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009990",
  "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."
  },
  "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": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16534,
      "label": "dyskeratosis congenita"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}