{
  "id": 14197,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2O",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013161",
  "properties": {
    "xrefs": [
      "DOID:0110292",
      "GARD:0012540",
      "MEDGEN:461767",
      "OMIM:613157",
      "Orphanet:206564",
      "UMLS:C3150417"
    ],
    "synonyms": [
      "LGMD-POMGNT1 related",
      "LGMD2O",
      "MDDGC3",
      "POMGNT1 autosomal recessive limb-girdle muscular dystrophy",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1",
      "limb-girdle muscular dystrophy type 2O",
      "muscular dystrophy, limb-girdle, type 2O",
      "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",
      "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
  },
  "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": 24464,
      "label": "myopathy caused by variation in POMGNT1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        7023,
        17974,
        24270,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026341"
        ],
        "synonyms": [
          "POMGNT1 myopathy",
          "POMGNT1-related myopathy",
          "myopathy caused by mutation in POMGNT1"
        ],
        "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 POMGNT1 gene."
      },
      "child_count": 15,
      "reference_id": "MONDO:0700068"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2758,
      "label": "muscular dystrophy-dystroglycanopathy, type C"
    },
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 24464,
      "label": "myopathy caused by variation in POMGNT1"
    }
  ]
}