{
  "id": 14332,
  "label": "autosomal dominant limb-girdle muscular dystrophy type 1H",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013297",
  "properties": {
    "xrefs": [
      "DOID:0110303",
      "GARD:0012532",
      "MEDGEN:462136",
      "OMIM:613530",
      "Orphanet:238755",
      "UMLS:C3150786"
    ],
    "synonyms": [
      "LGMD1H",
      "limb-girdle muscular dystrophy type 1H",
      "muscular dystrophy, limb-girdle, type 1H"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16083,
      "label": "muscular dystrophy, limb-girdle, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        17384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110273",
          "GARD:0019824",
          "MEDGEN:1826162",
          "OMIMPS:603511",
          "Orphanet:102014",
          "UMLS:C5675009",
          "icd11.foundation:537908479"
        ],
        "synonyms": [
          "autosomal dominant limb-girdle muscular dystrophy",
          "limb-girdle muscular dystrophy, autosomal dominant",
          "muscular dystrophy, limb-girdle, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of limb-girdle muscular dystrophy."
      },
      "child_count": 16,
      "reference_id": "MONDO:0015151"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16083,
      "label": "muscular dystrophy, limb-girdle, autosomal dominant"
    }
  ]
}