{
  "id": 24467,
  "label": "myopathy caused by variation in POMT2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700071",
  "properties": {
    "xrefs": [
      "GARD:0026344"
    ],
    "synonyms": [
      "POMT2 myopathy",
      "POMT2-related myopathy",
      "myopathy caused by mutation in POMT2"
    ],
    "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 POMT2 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": 14190,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24467
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111240",
          "GARD:0015624",
          "MEDGEN:461761",
          "NCIT:C126742",
          "OMIM:613150",
          "UMLS:C3150411"
        ],
        "synonyms": [
          "MDDGA2",
          "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related",
          "muscle-eye-brain-POMT2 related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013154"
    },
    {
      "id": 14196,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24467
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112380",
          "GARD:0024905",
          "MEDGEN:461766",
          "NCIT:C126690",
          "OMIM:613156",
          "UMLS:C3150416"
        ],
        "synonyms": [
          "congenital muscular dystrophy-POMT2 related",
          "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2",
          "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2",
          "MDDGB2",
          "muscular dystrophy, congenital, Pomt2-related",
          "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2",
          "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013160"
    },
    {
      "id": 14198,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2N",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        16772,
        24467
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110298",
          "GARD:0012539",
          "MEDGEN:461768",
          "OMIM:613158",
          "Orphanet:206559",
          "UMLS:C3150418"
        ],
        "synonyms": [
          "LGMD-POMT2 related",
          "LGMD2N",
          "MDDGC2",
          "POMT2 autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2",
          "limb-girdle muscular dystrophy type 2N",
          "muscular dystrophy, limb-girdle, type 2N",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2",
          "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013162"
    }
  ],
  "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"
    }
  ]
}