{
  "id": 13195,
  "label": "myofibrillar myopathy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012130",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16734,
      "label": "autosomal dominant distal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020361",
          "MEDGEN:1826097",
          "Orphanet:206650",
          "UMLS:C5680803"
        ],
        "synonyms": [
          "distal myopathy, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of distal myopathy."
      },
      "child_count": 30,
      "reference_id": "MONDO:0016108"
    },
    {
      "id": 29370,
      "label": "CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:1060212"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16734,
      "label": "autosomal dominant distal myopathy"
    },
    {
      "id": 29370,
      "label": "CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder"
    }
  ]
}