{
  "id": 16772,
  "label": "qualitative or quantitative defects of protein O-mannosyltransferase 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016185",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "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": 16755,
      "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan"
    }
  ]
}