{
  "id": 12143,
  "label": "Naxos disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011017",
  "properties": {
    "xrefs": [
      "DOID:0080551",
      "GARD:0009795",
      "MEDGEN:321991",
      "MESH:C538346",
      "OMIM:601214",
      "Orphanet:34217",
      "SCTID:715535009",
      "UMLS:C1832600",
      "icd11.foundation:633516876"
    ],
    "synonyms": [
      "KWWH type I",
      "NAXOS disease",
      "NXD",
      "Naxos disease",
      "keratoderma with woolly hair type I",
      "keratoderma with wooly hair type I",
      "keratosis palmoplantaris with arrythmogenic cardiomyopathy",
      "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy",
      "palmoplantar keratoderma with arrythmogenic cardiomyopathy",
      "Mal De Naxos",
      "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities",
      "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair",
      "keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair",
      "keratosis palmoplantaris with arrhythmogenic cardiomyopathy",
      "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair",
      "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair",
      "woolly hair palmoplantar keratoderma cardiac abnormalities",
      "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities",
      "wooly hair palmoplantar keratoderma cardiac abnormalities",
      "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6933,
      "label": "familial cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6735,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002945",
          "GARD:0024166",
          "ICD9:425.4",
          "MEDGEN:538845",
          "SCTID:35728003",
          "UMLS:C0264789",
          "icd11.foundation:1018022925"
        ],
        "synonyms": [
          "hereditary cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 18,
      "reference_id": "MONDO:0005217"
    },
    {
      "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": 17077,
      "label": "arrhythmogenic right ventricular cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3007
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050431",
          "GARD:0005847",
          "ICD9:425.4",
          "MEDGEN:87618",
          "MESH:D019571",
          "MedDRA:10058093",
          "NANDO:2100055",
          "NANDO:2200230",
          "NCIT:C84571",
          "Orphanet:247",
          "SCTID:281170005",
          "UMLS:C0349788",
          "icd11.foundation:1931494126"
        ],
        "synonyms": [
          "ARVD",
          "arrhythmogenic RVD",
          "arrhythmogenic right ventricular cardiomyopathy",
          "arrhythmogenic right ventricular dysplasia",
          "right ventricular dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016587"
    },
    {
      "id": 23832,
      "label": "cardioectodermal syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "cardio-ectodermal syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndromic disease with phenotypic manifestations in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100080"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6933,
      "label": "familial cardiomyopathy"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17077,
      "label": "arrhythmogenic right ventricular cardiomyopathy"
    },
    {
      "id": 23832,
      "label": "cardioectodermal syndrome"
    }
  ]
}