{
  "id": 6933,
  "label": "familial cardiomyopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005217",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 6735,
      "label": "cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798,
        6967
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050700",
          "EFO:0000318",
          "ICD10CM:I42",
          "ICD10WHO:I42",
          "ICD9:425",
          "ICD9:425.4",
          "ICD9:425.9",
          "MEDGEN:209232",
          "MESH:D009202",
          "MedDRA:10007636",
          "NCIT:C34830",
          "Orphanet:167848",
          "SCTID:85898001",
          "UMLS:C0878544",
          "icd11.foundation:282225286"
        ],
        "synonyms": [
          "Cardiomyopathies",
          "cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive."
      },
      "child_count": 24,
      "reference_id": "MONDO:0004994"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [
    {
      "id": 12143,
      "label": "Naxos disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6933,
        7611,
        17077,
        23832
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011017"
    },
    {
      "id": 16322,
      "label": "fatal infantile encephalocardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6933,
        10856,
        16918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050713",
          "GARD:0016569",
          "MEDGEN:903874",
          "Orphanet:1561",
          "SCTID:718124006",
          "UMLS:C4273730"
        ],
        "synonyms": [
          "fatal infantile COX deficiency",
          "fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency",
          "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency",
          "fatal infantile cytochrome C oxidase deficiency",
          "fatal infantile encephalomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015487"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    },
    {
      "id": 16880,
      "label": "familial restrictive cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6919,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020532",
          "ICD9:425.4",
          "MEDGEN:468561",
          "OMIMPS:115210",
          "Orphanet:217635",
          "SCTID:233878008",
          "UMLS:C0340429"
        ],
        "synonyms": [
          "hereditary restrictive cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 20,
      "reference_id": "MONDO:0016340"
    },
    {
      "id": 16881,
      "label": "familial isolated arrhythmogenic right ventricular dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6933,
        17077
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017129",
          "MEDGEN:901869",
          "OMIMPS:107970",
          "Orphanet:217656",
          "SCTID:715865008",
          "UMLS:C4274968",
          "icd11.foundation:460188584"
        ],
        "synonyms": [
          "familial isolated ARVC",
          "familial isolated ARVD",
          "familial isolated arrhythmogenic right ventricular cardiomyopathy",
          "familial isolated arrhythmogenic right ventricular dysplasia",
          "familial isolated arrhythmogenic ventricular cardiomyopathy",
          "familial isolated arrhythmogenic ventricular dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms."
      },
      "child_count": 32,
      "reference_id": "MONDO:0016342"
    },
    {
      "id": 18829,
      "label": "left ventricular noncompaction",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3007,
        6933,
        24336
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060480",
          "GARD:0010985",
          "MEDGEN:450531",
          "NANDO:2200231",
          "NCIT:C99544",
          "OMIMPS:604169",
          "Orphanet:54260",
          "UMLS:C1960469"
        ],
        "synonyms": [
          "LVNC",
          "Lv non-compaction syndrome",
          "left ventricular hypertrabeculation",
          "left ventricular non-compaction cardiomyopathy",
          "left ventricular non-compaction syndrome",
          "left ventricular noncompaction (disease)",
          "spongy myocardium"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events."
      },
      "child_count": 39,
      "reference_id": "MONDO:0018901"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6777,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080326",
          "MEDGEN:183649",
          "MESH:D024741",
          "NCIT:C84773",
          "OMIMPS:192600",
          "Orphanet:155",
          "SCTID:471885006",
          "UMLS:C0949658",
          "icd11.foundation:1408928442"
        ],
        "synonyms": [
          "cardiomyopathy, familial hypertrophic",
          "familial hypertrophic cardiomyopathy",
          "familila or idiopathic hypertrophic obstructive cardiomyopathy",
          "hereditary hypertrophic cardiomyopathy",
          "hypertrophic familial cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."
      },
      "child_count": 80,
      "reference_id": "MONDO:0024573"
    },
    {
      "id": 25029,
      "label": "NKX2.5-related congenital, conduction and myopathic heart disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3258,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026559"
        ],
        "synonyms": [
          "NKX2-5-related congenital, conduction and myopathic heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800441"
    },
    {
      "id": 25068,
      "label": "PRKAG2-related cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026575"
        ],
        "synonyms": [
          "PRKAG2 cardiac syndrome",
          "PRKAG2 cardiomyopathy",
          "PRKAG2 syndrome",
          "PRKAG2-related cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells."
      },
      "child_count": 3,
      "reference_id": "MONDO:0800484"
    }
  ],
  "roots": [
    {
      "id": 6735,
      "label": "cardiomyopathy"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}