{
  "id": 16747,
  "label": "qualitative or quantitative defects of beta-sarcoglycan",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016142",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16745,
      "label": "sarcoglycanopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020389",
          "MEDGEN:424705",
          "MESH:D058088",
          "Orphanet:207052",
          "UMLS:C2936331"
        ],
        "synonyms": [
          "qualitative or quantitative defects of sarcoglycan"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016140"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 12528,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        16747,
        16878
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011423"
    }
  ],
  "roots": [
    {
      "id": 16745,
      "label": "sarcoglycanopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}