{
  "id": 14198,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2N",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013162",
  "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."
  },
  "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": 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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2758,
      "label": "muscular dystrophy-dystroglycanopathy, type C"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16772,
      "label": "qualitative or quantitative defects of protein O-mannosyltransferase 2"
    },
    {
      "id": 24467,
      "label": "myopathy caused by variation in POMT2"
    }
  ]
}