{
  "id": 24466,
  "label": "myopathy caused by variation in POMT1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700070",
  "properties": {
    "xrefs": [
      "GARD:0026343"
    ],
    "synonyms": [
      "POMT1 myopathy",
      "POMT1-related myopathy",
      "myopathy caused by mutation in POMT1"
    ],
    "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 POMT1 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": 10596,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24466
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111237",
          "GARD:0024665",
          "MEDGEN:924974",
          "NCIT:C128118",
          "OMIM:236670",
          "UMLS:C4284790"
        ],
        "synonyms": [
          "muscle-eye-brain-POMT1 related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1",
          "MDDGA1",
          "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related",
          "cerebroocular dysplasia-muscular dystrophy syndrome",
          "cod-MD syndrome",
          "hard syndrome",
          "hydrocephalus, agyria, and retinal dysplasia",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1"
        ],
        "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 POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009364"
    },
    {
      "id": 13307,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2K",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        16771,
        24466
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110297",
          "GARD:0012535",
          "MEDGEN:332193",
          "NCIT:C133730",
          "OMIM:609308",
          "Orphanet:86812",
          "SCTID:720523006",
          "UMLS:C1836373"
        ],
        "synonyms": [
          "LGMD-POMT1 related",
          "LGMD2K",
          "MDDGC1",
          "POMT1 autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1",
          "limb-girdle muscular dystrophy-intellectual disability syndrome",
          "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1",
          "limb-girdle muscular dystrophy - intellectual disability",
          "limb-girdle muscular dystrophy type 2K",
          "muscular dystrophy, limb-girdle, type 2K",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012248"
    },
    {
      "id": 14195,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24466
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050588",
          "GARD:0024904",
          "MEDGEN:1774807",
          "OMIM:613155",
          "UMLS:C5436962"
        ],
        "synonyms": [
          "congenital muscular dystrophy-POMT1 related",
          "MDDGB1",
          "muscular dystrophy, congenital, Pomt1-related",
          "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1",
          "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013159"
    }
  ],
  "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"
    }
  ]
}