{
  "id": 24480,
  "label": "myopathy caused by variation in GMPPB",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700084",
  "properties": {
    "xrefs": [
      "GARD:0026352"
    ],
    "synonyms": [
      "GMPPB-related myopathy",
      "myopathy caused by mutation in GMPPB"
    ],
    "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 GMPPB gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 15147,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111233",
          "GARD:0015948",
          "MEDGEN:815546",
          "OMIM:615350",
          "UMLS:C3809216"
        ],
        "synonyms": [
          "muscle-eye-brain-GMPPB related",
          "MDDGA14",
          "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014140"
    },
    {
      "id": 15148,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112377",
          "GARD:0024976",
          "MEDGEN:815551",
          "OMIM:615351",
          "UMLS:C3809221"
        ],
        "synonyms": [
          "congenital muscular dystrophy-GMPPB related",
          "MDDGB14",
          "muscular dystrophy, congenital, GMPPB-related",
          "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14",
          "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014141"
    },
    {
      "id": 15149,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        24480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110294",
          "GARD:0012544",
          "MEDGEN:1377325",
          "OMIM:615352",
          "Orphanet:363623",
          "UMLS:C4518000"
        ],
        "synonyms": [
          "GMPPB autosomal recessive limb-girdle muscular dystrophy",
          "LGMD-GMPPB related",
          "LGMD2T",
          "MDDGC14",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB",
          "limb-girdle muscular dystrophy type 2T",
          "muscular dystrophy, limb-girdle, type 2T",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14",
          "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014142"
    }
  ],
  "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"
    }
  ]
}