{
  "id": 16748,
  "label": "qualitative or quantitative defects of gamma-sarcoglycan",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016143",
  "properties": {
    "xrefs": [
      "GARD:0020392",
      "MEDGEN:1842385",
      "Orphanet:207067",
      "UMLS:C5680805"
    ],
    "synonyms": [
      "gamma-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": 10891,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        16748,
        16878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110277",
          "GARD:0002429",
          "MEDGEN:98045",
          "MESH:C535900",
          "OMIM:253700",
          "Orphanet:353",
          "UMLS:C0410173"
        ],
        "synonyms": [
          "DMDA1",
          "LGMD2C",
          "Maghrebian myopathy",
          "SCARMD",
          "SGCG autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG",
          "autosomal recessive limb-girdle muscular dystrophy type 2C",
          "gamma-sarcoglycanopathy",
          "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency",
          "muscular dystrophy, limb-girdle, autosomal recessive 5",
          "muscular dystrophy, limb-girdle, type 2C",
          "Adhalin deficiency, secondary",
          "Dmda",
          "Duchenne-like muscular dystrophy, autosomal recessive, type 1",
          "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency",
          "limb-girdle muscular dystrophy, type 2C",
          "muscular dystrophy, Duchenne-like",
          "sarcoglycan, gamma, deficiency of",
          "severe childhood autosomal recessive muscular dystrophy, North African type"
        ],
        "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 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009677"
    }
  ],
  "roots": [
    {
      "id": 16745,
      "label": "sarcoglycanopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}