{
  "id": 12292,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2G",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011170",
  "properties": {
    "xrefs": [
      "DOID:0110281",
      "GARD:0010471",
      "MEDGEN:400895",
      "MESH:C566599",
      "OMIM:601954",
      "Orphanet:34514",
      "SCTID:720522001",
      "UMLS:C1866008"
    ],
    "synonyms": [
      "LGMD2G",
      "TCAP autosomal recessive limb-girdle muscular dystrophy",
      "Tcap autosomal recessive limb-girdle muscular dystrophy",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap",
      "limb-girdle muscular dystrophy due to telethonin deficiency",
      "muscular dystrophy, limb-girdle, autosomal recessive 7",
      "muscular dystrophy, limb-girdle, type 2G",
      "limb-girdle muscular dystrophy, type 2G"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed."
  },
  "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": 16779,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of telethonin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020431",
          "MEDGEN:1842233",
          "Orphanet:209056",
          "UMLS:C5680842"
        ],
        "synonyms": [
          "qualitative or quantitative defects of telethonin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016192"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16779,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of telethonin"
    }
  ]
}