{
  "id": 12528,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011423",
  "properties": {
    "xrefs": [
      "DOID:0110279",
      "GARD:0003851",
      "MEDGEN:347674",
      "OMIM:604286",
      "Orphanet:119",
      "SCTID:718850008",
      "UMLS:C1858593"
    ],
    "synonyms": [
      "beta-sarcoglycanopathy",
      "LGMD due to beta-sarcoglycan deficiency",
      "LGMD type 2E",
      "LGMD2E",
      "LGMDR4",
      "SGCB autosomal recessive limb-girdle muscular dystrophy",
      "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB",
      "autosomal recessive limb-girdle muscular dystrophy type 2E",
      "beta-sarcoglycan-related LGMD R4",
      "beta-sarcoglycan-related limb-girdle muscular dystrophy R4",
      "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency",
      "limb-girdle muscular dystrophy type 2E",
      "muscular dystrophy, limb-girdle, autosomal recessive 4",
      "muscular dystrophy, limb-girdle, type 2E",
      "beta-sarcoglycan limb-girdle muscular dystrophy",
      "muscular dystrophy limb-girdle with beta-sarcoglycan deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be 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": 16747,
      "label": "qualitative or quantitative defects of beta-sarcoglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16745,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020391",
          "HGNC:10806",
          "MEDGEN:418943",
          "MESH:C535435",
          "Orphanet:207063",
          "UMLS:C2930900"
        ],
        "synonyms": [
          "beta-sarcoglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016142"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16084,
      "label": "autosomal recessive limb-girdle muscular dystrophy"
    },
    {
      "id": 16747,
      "label": "qualitative or quantitative defects of beta-sarcoglycan"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    }
  ]
}