{
  "id": 13307,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2K",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012248",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2758,
      "label": "muscular dystrophy-dystroglycanopathy, type C",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022722",
          "OMIMPS:609308"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0000173"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110274",
          "GARD:0019825",
          "MEDGEN:419194",
          "MESH:C538640",
          "OMIMPS:253600",
          "Orphanet:102015",
          "UMLS:C2931907",
          "icd11.foundation:319162980"
        ],
        "synonyms": [
          "autosomal recessive limb-girdle muscular dystrophy",
          "limb-girdle muscular dystrophy, autosomal recessive",
          "muscular dystrophy, limb-girdle, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of limb-girdle muscular dystrophy."
      },
      "child_count": 64,
      "reference_id": "MONDO:0015152"
    },
    {
      "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2758,
      "label": "muscular dystrophy-dystroglycanopathy, type C"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16771,
      "label": "qualitative or quantitative defects of protein O-mannosyltransferase 1"
    },
    {
      "id": 24466,
      "label": "myopathy caused by variation in POMT1"
    }
  ]
}