{
  "id": 13193,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2J",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012127",
  "properties": {
    "xrefs": [
      "DOID:0110283",
      "GARD:0012534",
      "MEDGEN:324741",
      "MESH:C563854",
      "OMIM:608807",
      "Orphanet:140922",
      "UMLS:C1837342"
    ],
    "synonyms": [
      "LGMD2J",
      "TTN autosomal recessive limb-girdle muscular dystrophy",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN",
      "muscular dystrophy, limb-girdle, autosomal recessive 10",
      "muscular dystrophy, limb-girdle, type 2J",
      "limb-girdle muscular dystrophy type 2J"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24219,
      "label": "autosomal recessive titinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        23917
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026246"
        ],
        "synonyms": [
          "TTN-related myopathy, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of TTN-related myopathy."
      },
      "child_count": 14,
      "reference_id": "MONDO:0100493"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 24219,
      "label": "autosomal recessive titinopathy"
    }
  ]
}