{
  "id": 10891,
  "label": "autosomal recessive limb-girdle muscular dystrophy type 2C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009677",
  "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."
  },
  "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": 16748,
      "label": "qualitative or quantitative defects of gamma-sarcoglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16745,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020392",
          "MEDGEN:1842385",
          "Orphanet:207067",
          "UMLS:C5680805"
        ],
        "synonyms": [
          "gamma-sarcoglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016143"
    },
    {
      "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": 16748,
      "label": "qualitative or quantitative defects of gamma-sarcoglycan"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    }
  ]
}