{
  "id": 24255,
  "label": "myopathy caused by variation in CRPPA",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100530",
  "properties": {
    "xrefs": [
      "GARD:0026264"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any myopathy in which the cause of the disease is a variation in the CRPPA gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7023,
      "label": "myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:423",
          "EFO:0004145",
          "ICD9:359.8",
          "ICD9:359.9",
          "ICD9:728.3",
          "MEDGEN:10135",
          "NCIT:C101216",
          "SCTID:129565002",
          "UMLS:C0026848",
          "icd11.foundation:1870184184"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."
      },
      "child_count": 32,
      "reference_id": "MONDO:0005336"
    },
    {
      "id": 16755,
      "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        17974,
        18397,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020402",
          "MEDGEN:1842564",
          "Orphanet:207113",
          "UMLS:C5679795"
        ],
        "synonyms": [
          "secondary alpha-dystroglycanopathy",
          "secondary dystroglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 36,
      "reference_id": "MONDO:0016155"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    }
  ],
  "children": [
    {
      "id": 14849,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        24255
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111234",
          "GARD:0015829",
          "MEDGEN:766244",
          "OMIM:614643",
          "UMLS:C3553330"
        ],
        "synonyms": [
          "ISPD muscular dystrophy-dystroglycanopathy, type A",
          "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
          "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD",
          "MDDGA7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013835"
    },
    {
      "id": 15473,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2U",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        24255
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110295",
          "GARD:0017519",
          "MEDGEN:1683417",
          "OMIM:616052",
          "Orphanet:352479",
          "UMLS:C5190987"
        ],
        "synonyms": [
          "ISPD autosomal recessive limb-girdle muscular dystrophy",
          "LGMD2U",
          "MDDGC7",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD",
          "muscular dystrophy, limb-girdle, type 2U",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014474"
    }
  ],
  "roots": [
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 16755,
      "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}