{
  "id": 16880,
  "label": "familial restrictive cardiomyopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016340",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 6919,
      "label": "restrictive cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3007
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:397",
          "EFO:0002630",
          "GARD:0020531",
          "ICD9:425.4",
          "MEDGEN:40111",
          "MESH:D002313",
          "MedDRA:10038748",
          "NANDO:1200292",
          "NANDO:1200293",
          "NANDO:2100058",
          "NANDO:2200233",
          "NCIT:C62798",
          "Orphanet:217632",
          "SCTID:415295002",
          "UMLS:C0007196",
          "icd11.foundation:316495940"
        ],
        "synonyms": [
          "restrictive cardiomyopathy",
          "familial restrictive cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium."
      },
      "child_count": 3,
      "reference_id": "MONDO:0005201"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8672,
      "label": "cardiomyopathy, familial restrictive, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111425",
          "GARD:0018070",
          "MEDGEN:396236",
          "MESH:C566168",
          "OMIM:115210",
          "UMLS:C1861861"
        ],
        "synonyms": [
          "TNNI3 familial isolated restrictive cardiomyopathy",
          "cardiomyopathy, familial restrictive, 1",
          "cardiomyopathy, familial restrictive, type 1",
          "familial isolated restrictive cardiomyopathy caused by mutation in TNNI3",
          "RCM1",
          "Rcm"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007270"
    },
    {
      "id": 10506,
      "label": "Gaucher disease type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880,
        18295,
        18454,
        18462,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110957",
          "GARD:0002441",
          "MEDGEN:409531",
          "NANDO:1200057",
          "NANDO:2201210",
          "OMIM:230800",
          "Orphanet:77259",
          "SCTID:62201009",
          "UMLS:C1961835"
        ],
        "synonyms": [
          "Gaucher disease type I",
          "Gaucher disease, noncerebral juvenile",
          "Gaucher's disease type I",
          "Gba deficiency",
          "acid Beta-glucosidase deficiency",
          "non-cerebral juvenile Gaucher disease",
          "Gaucher disease type 1",
          "Gaucher disease, type 1",
          "Gaucher disease, type I",
          "Gd 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009265"
    },
    {
      "id": 10529,
      "label": "glycogen storage disease II",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4502,
        16880,
        17971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2752",
          "GARD:0005714",
          "ICD10CM:E74.02",
          "MEDGEN:5340",
          "MedDRA:10053185",
          "NANDO:1200138",
          "NANDO:1200825",
          "NANDO:2200569",
          "NCIT:C84734",
          "NORD:1595",
          "Orphanet:365",
          "SCTID:274864009",
          "UMLS:C0017921",
          "icd11.foundation:1427054474"
        ],
        "synonyms": [
          "Alpha-1,4-glucosidase acid deficiency",
          "GAA glycogen storage disease",
          "GSD due to acid maltase deficiency",
          "GSD type 2",
          "GSD type II",
          "Pompe Disease",
          "Pompe disease",
          "acid maltase deficiency",
          "generalised glycogenosis",
          "glycogen storage disease II",
          "glycogen storage disease caused by mutation in GAA",
          "glycogen storage disease type 2",
          "glycogen storage disease type II",
          "glycogenosis due to acid maltase deficiency",
          "glycogenosis type 2",
          "glycogenosis type II",
          "Aglucosidase alfa",
          "Alpha-1,4-glucosidase deficiency",
          "Cardiomegalia Glycogenica diffusa",
          "GAA deficiency",
          "GSD 2",
          "GSD II",
          "GSD2",
          "acid maltase deficiency disease",
          "deficiency of alpha-glucosidase",
          "deficiency of lysosomal alpha-glucosidase",
          "glucosidase acid-1,4-alpha deficiency",
          "glycogen storage disease 2",
          "glycogen storage disease due to acid maltase deficiency",
          "glycogenosis, generalized, Cardiac form"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009290"
    },
    {
      "id": 12971,
      "label": "idiopathic hypereosinophilic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6836,
        16456,
        16880
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016625",
          "ICD10CM:D72.110",
          "MEDGEN:61525",
          "OMIM:607685",
          "Orphanet:3260",
          "SCTID:423294001",
          "UMLS:C0206141",
          "icd11.foundation:703101846"
        ],
        "synonyms": [
          "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation",
          "HES",
          "hypereosinophilic syndrome, idiopathic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0011895"
    },
    {
      "id": 13362,
      "label": "cardiomyopathy, familial restrictive, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111426",
          "GARD:0018071",
          "MEDGEN:400673",
          "MESH:C566512",
          "OMIM:609578",
          "UMLS:C1865071"
        ],
        "synonyms": [
          "cardiomyopathy, familial restrictive, 2",
          "RCM2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012306"
    },
    {
      "id": 13940,
      "label": "cardiomyopathy, familial restrictive, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880,
        26612
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111427",
          "GARD:0018072",
          "MEDGEN:382807",
          "MESH:C567316",
          "OMIM:612422",
          "UMLS:C2676271"
        ],
        "synonyms": [
          "TNNT2 familial isolated restrictive cardiomyopathy",
          "cardiomyopathy, familial restrictive, 3",
          "cardiomyopathy, familial restrictive, type 3",
          "familial isolated restrictive cardiomyopathy caused by mutation in TNNT2",
          "RCM3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012900"
    },
    {
      "id": 15109,
      "label": "dilated cardiomyopathy 1KK",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880,
        21518,
        24709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110445",
          "GARD:0015926",
          "MEDGEN:811544",
          "OMIM:615248",
          "UMLS:C3714995"
        ],
        "synonyms": [
          "CMD1KK",
          "MYPN dilated cardiomyopathy",
          "cardiomyopathy, dilated, type 1Kk",
          "cardiomyopathy, hypertrophic, 22",
          "dilated cardiomyopathy caused by mutation in MYPN",
          "dilated cardiomyopathy type 1KK",
          "cardiomyopathy, dilated, 1KK",
          "cardiomyopathy, familial hypertrophic, 22",
          "cardiomyopathy, familial restrictive, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014100"
    },
    {
      "id": 16163,
      "label": "atrial standstill",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16880
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016564",
          "ICD9:426.6",
          "MEDGEN:639047",
          "MESH:C563984",
          "Orphanet:1344",
          "SCTID:450919004",
          "UMLS:C0541782",
          "icd11.foundation:483869734"
        ],
        "synonyms": [
          "atrial cardiomyopathy with heart block"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015281"
    },
    {
      "id": 19268,
      "label": "ATTRV122I amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880,
        26000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016755",
          "MEDGEN:907865",
          "Orphanet:85451",
          "SCTID:715655000",
          "UMLS:C4275067",
          "icd11.foundation:1449168185"
        ],
        "synonyms": [
          "ATTRV122I-related amyloidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019441"
    },
    {
      "id": 21886,
      "label": "cardiomyopathy, familial restrictive, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061025",
          "GARD:0025540",
          "MEDGEN:1780781",
          "OMIM:619433",
          "UMLS:C5543638"
        ],
        "synonyms": [
          "RCM6",
          "cardiomyopathy, familial restrictive, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030330"
    }
  ],
  "roots": [
    {
      "id": 6919,
      "label": "restrictive cardiomyopathy"
    },
    {
      "id": 6933,
      "label": "familial cardiomyopathy"
    }
  ]
}