{
  "id": 16771,
  "label": "qualitative or quantitative defects of protein O-mannosyltransferase 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016184",
  "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"
      }
    ]
  },
  "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": 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"
    }
  ],
  "roots": [
    {
      "id": 16755,
      "label": "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan"
    }
  ]
}