{
  "id": 29370,
  "label": "CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060212",
  "properties": {
    "synonyms": [
      "CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder",
      "alpha-B crystallinopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 13195,
      "label": "myofibrillar myopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734,
        29370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080093",
          "GARD:0017651",
          "MEDGEN:324735",
          "MESH:C563848",
          "OMIM:608810",
          "Orphanet:399058",
          "UMLS:C1837317"
        ],
        "synonyms": [
          "CRYAB autosomal dominant distal myopathy",
          "CRYAB-related myofibrillar myopathy",
          "alpha-B crystallinopathy",
          "autosomal dominant distal myopathy caused by mutation in CRYAB",
          "late-onset distal crystallinopathy",
          "myofibrillar myopathy type 2",
          "myopathy, myofibrillar, type 2",
          "MFM2",
          "myopathy, myofibrillar, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012130"
    },
    {
      "id": 14443,
      "label": "cataract 16 multiple types",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19839,
        29370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110250",
          "GARD:0024920",
          "MEDGEN:814707",
          "MESH:C565134",
          "OMIM:613763",
          "UMLS:C3808377"
        ],
        "synonyms": [
          "CRYAB early-onset non-syndromic cataract",
          "CTRCT16",
          "early-onset non-syndromic cataract caused by mutation in CRYAB",
          "cataract 16, multiple types",
          "cataract, congenital lamellar",
          "cataract, posterior polar, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0013411"
    },
    {
      "id": 15082,
      "label": "dilated cardiomyopathy 1II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24709,
        29370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110450",
          "GARD:0015916",
          "MEDGEN:767563",
          "OMIM:615184",
          "UMLS:C3554649"
        ],
        "synonyms": [
          "CMD1II",
          "CRYAB familial isolated dilated cardiomyopathy",
          "cardiomyopathy, dilated, type 1II",
          "dilated cardiomyopathy type 1II",
          "familial isolated dilated cardiomyopathy caused by mutation in CRYAB",
          "cardiomyopathy, dilated, 1II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014073"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}