{
  "id": 10897,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2H",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009683",
  "properties": {
    "xrefs": [
      "DOID:0110282",
      "GARD:0003844",
      "ICD9:359.89",
      "MEDGEN:78750",
      "MESH:C535897",
      "OMIM:254110",
      "Orphanet:1878",
      "SCTID:43226001",
      "UMLS:C0270968"
    ],
    "synonyms": [
      "LGMD2H",
      "Sarcotubular myopathy",
      "TRIM32 autosomal recessive limb-girdle muscular dystrophy",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32",
      "autosomal recessive limb-girdle muscular dystrophy type 2H",
      "limb-girdle muscular dystrophy due to TRIM32 deficiency",
      "muscular dystrophy, limb-girdle, autosomal recessive 8",
      "sarcotubular myopathy",
      "limb-girdle muscular dystrophy type 2H",
      "muscular dystrophy limb-girdle type 2H",
      "muscular dystrophy, Hutterite type",
      "muscular dystrophy, limb-girdle, type 2H"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement."
  },
  "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": 16754,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of TRIM32",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020400",
          "MEDGEN:1843261",
          "Orphanet:207107",
          "UMLS:C5680829"
        ],
        "synonyms": [
          "qualitative or quantitative defects of TRIM32"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016153"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16754,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of TRIM32"
    }
  ]
}