{
  "id": 24464,
  "label": "myopathy caused by variation in POMGNT1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700068",
  "properties": {
    "xrefs": [
      "GARD:0026341"
    ],
    "synonyms": [
      "POMGNT1 myopathy",
      "POMGNT1-related myopathy",
      "myopathy caused by mutation in POMGNT1"
    ],
    "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 POMGNT1 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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": 17974,
      "label": "disorder of protein O-glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168,
        23506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021336",
          "MEDGEN:1842631",
          "Orphanet:309447",
          "UMLS:C5681041",
          "icd11.foundation:1883085871"
        ],
        "synonyms": [
          "disorder of protein O-linked glycosylation",
          "protein O-linked glycosylation disease"
        ],
        "definition": "A disease that has its basis in the disruption of protein O-linked glycosylation."
      },
      "child_count": 12,
      "reference_id": "MONDO:0017741"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    },
    {
      "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": 10881,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24464
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111236",
          "GARD:0015204",
          "MEDGEN:462869",
          "NCIT:C126740",
          "OMIM:253280",
          "UMLS:C3151519"
        ],
        "synonyms": [
          "muscle-eye-brain-POMGNT1 related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3",
          "MDDGA3",
          "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3"
        ],
        "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 POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009667"
    },
    {
      "id": 14191,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24464
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112378",
          "GARD:0018455",
          "MEDGEN:461762",
          "OMIM:613151",
          "UMLS:C3150412"
        ],
        "synonyms": [
          "congenital muscular dystrophy-POMGNT1 related",
          "MDDGB3",
          "muscular dystrophy, congenital, POMGNT1-related",
          "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3",
          "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013155"
    },
    {
      "id": 14197,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2O",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        24464
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110292",
          "GARD:0012540",
          "MEDGEN:461767",
          "OMIM:613157",
          "Orphanet:206564",
          "UMLS:C3150417"
        ],
        "synonyms": [
          "LGMD-POMGNT1 related",
          "LGMD2O",
          "MDDGC3",
          "POMGNT1 autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1",
          "limb-girdle muscular dystrophy type 2O",
          "muscular dystrophy, limb-girdle, type 2O",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",
          "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013161"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 17974,
      "label": "disorder of protein O-glycosylation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}