{
  "id": 16755,
  "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016155",
  "properties": {
    "xrefs": [
      "GARD:0020402",
      "MEDGEN:1842564",
      "Orphanet:207113",
      "UMLS:C5679795"
    ],
    "synonyms": [
      "secondary alpha-dystroglycanopathy",
      "secondary dystroglycanopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "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": 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": 18397,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021601",
          "MEDGEN:423526",
          "Orphanet:371024",
          "UMLS:C2936406"
        ],
        "synonyms": [
          "alpha-dystroglycanopathy",
          "dystroglycanopathy",
          "qualitative or quantitative defects of alpha-dystroglycan"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0018282"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 15488,
      "label": "limb-girdle muscular dystrophy due to POMK deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2758,
        16084,
        16755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112381",
          "GARD:0017769",
          "MEDGEN:863621",
          "OMIM:616094",
          "Orphanet:445110",
          "UMLS:C4015184"
        ],
        "synonyms": [
          "LGMD due to POMK deficiency",
          "MDDGC12",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12",
          "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014489"
    },
    {
      "id": 16756,
      "label": "qualitative or quantitative defects of FKRP",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020403",
          "MEDGEN:1842706",
          "Orphanet:207119",
          "UMLS:C5680827"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016156"
    },
    {
      "id": 16771,
      "label": "qualitative or quantitative defects of protein O-mannosyltransferase 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020423",
          "MEDGEN:1842612",
          "Orphanet:209030",
          "UMLS:C5680849"
        ],
        "synonyms": [
          "qualitative or quantitative defects of protein O-mannosyltransferase type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0016184"
    },
    {
      "id": 16772,
      "label": "qualitative or quantitative defects of protein O-mannosyltransferase 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020424",
          "MEDGEN:1842845",
          "Orphanet:209033",
          "UMLS:C5680852"
        ],
        "synonyms": [
          "qualitative or quantitative defects of protein O-mannosyltransferase type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0016185"
    },
    {
      "id": 24255,
      "label": "myopathy caused by variation in CRPPA",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100530"
    },
    {
      "id": 24463,
      "label": "myopathy caused by variation in FKTN",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026340"
        ],
        "synonyms": [
          "FKTN myopathy",
          "FKTN-related myopathy",
          "myopathy caused by mutation in FKTN"
        ],
        "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 FKTN gene."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700067"
    },
    {
      "id": 24466,
      "label": "myopathy caused by variation in POMT1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700070"
    },
    {
      "id": 24467,
      "label": "myopathy caused by variation in POMT2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700071"
    },
    {
      "id": 24480,
      "label": "myopathy caused by variation in GMPPB",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700084"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 17974,
      "label": "disorder of protein O-glycosylation"
    },
    {
      "id": 18397,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}