{
  "id": 16083,
  "label": "muscular dystrophy, limb-girdle, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015151",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 17384,
      "label": "limb-girdle muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11724",
          "GARD:0006907",
          "MEDGEN:151940",
          "MESH:D049288",
          "NANDO:1200490",
          "NANDO:2200858",
          "NCIT:C84828",
          "Orphanet:263",
          "SCTID:78468005",
          "UMLS:C0686353",
          "icd11.foundation:887807212"
        ],
        "synonyms": [
          "LGMD",
          "Leyden-Mobius muscular dystrophy",
          "limb-girdle muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD."
      },
      "child_count": 3,
      "reference_id": "MONDO:0016971"
    }
  ],
  "children": [
    {
      "id": 13102,
      "label": "autosomal dominant limb-girdle muscular dystrophy type 1F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110304",
          "GARD:0012530",
          "MEDGEN:333983",
          "MESH:C564242",
          "OMIM:608423",
          "Orphanet:55595",
          "SCTID:719989007",
          "UMLS:C1842062"
        ],
        "synonyms": [
          "LGMD1F",
          "muscular dystrophy, limb-girdle, autosomal dominant 2",
          "limb-girdle muscular dystrophy type 1F",
          "muscular dystrophy, limb-girdle, type 1F"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012034"
    },
    {
      "id": 13255,
      "label": "autosomal dominant limb-girdle muscular dystrophy type 1G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110306",
          "GARD:0012531",
          "MEDGEN:322993",
          "MESH:C563794",
          "OMIM:609115",
          "Orphanet:55596",
          "SCTID:719990003",
          "UMLS:C1836765"
        ],
        "synonyms": [
          "HNRNPDL autosomal dominant limb-girdle muscular dystrophy",
          "LGMD1G",
          "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL",
          "muscular dystrophy, limb-girdle, autosomal dominant 3",
          "limb-girdle muscular dystrophy type 1G",
          "limb-girdle muscular dystrophy, type 1G"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012193"
    },
    {
      "id": 13276,
      "label": "myofibrillar myopathy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16083,
        16734,
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080094",
          "DOID:0110300",
          "GARD:0016871",
          "MEDGEN:811509",
          "MESH:C000598645",
          "MESH:C535906",
          "MESH:C563775",
          "OMIM:159000",
          "OMIM:182920",
          "OMIM:609200",
          "Orphanet:266",
          "Orphanet:268129",
          "Orphanet:98911",
          "SCTID:719985001",
          "SCTID:765092004",
          "SCTID:765196004",
          "UMLS:C3714934"
        ],
        "synonyms": [
          "LGMD1A",
          "MYOT autosomal dominant distal myopathy",
          "MYOT autosomal dominant limb-girdle muscular dystrophy",
          "MYOT-related myofibrillar myopathy",
          "autosomal dominant distal myopathy caused by mutation in MYOT",
          "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT",
          "autosomal dominant limb-girdle muscular dystrophy type 1A",
          "distal myotilinopathy",
          "myofibrillar myopathy type 3",
          "myopathy, myofibrillar, type 3",
          "myotilinopathy",
          "spheroid body myopathy",
          "LGMD1",
          "MFM3",
          "autosomal dominant spheroid body myopathy",
          "limb-girdle muscular dystrophy type 1A",
          "muscular dystrophy, limb-girdle, type 1A",
          "muscular dystrophy, proximal, type 1A",
          "myopathy, myofibrillar, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012215"
    },
    {
      "id": 14332,
      "label": "autosomal dominant limb-girdle muscular dystrophy type 1H",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16083
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013297"
    },
    {
      "id": 18258,
      "label": "autosomal dominant limb-girdle muscular dystrophy type 1E (DES)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16083,
        16774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012529",
          "MEDGEN:929970",
          "Orphanet:34517",
          "UMLS:C4304301"
        ],
        "synonyms": [
          "LGMD1E",
          "limb-girdle muscular dystrophy type 1E"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018098"
    },
    {
      "id": 20269,
      "label": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110305",
          "GARD:0012528",
          "MEDGEN:1648441",
          "MESH:C566370",
          "OMIM:603511",
          "Orphanet:34516",
          "UMLS:C4721885"
        ],
        "synonyms": [
          "DNAJB6 autosomal dominant limb-girdle muscular dystrophy",
          "LGMD1D",
          "LGMD1D (DNAJB6)",
          "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6",
          "muscular dystrophy, limb-girdle, autosomal dominant 1",
          "LGMD1E",
          "LGMD1E (Bushby and Beckmann, 2003)",
          "autosomal dominant limb-girdle muscular dystrophy type 1D",
          "autosomal dominant limb-girdle muscular dystrophy type 1E",
          "limb-girdle muscular dystrophy type 1D",
          "muscular dystrophy limb-girdle type 1D",
          "muscular dystrophy limb-girdle type 1E",
          "muscular dystrophy, limb-girdle, type 1D",
          "muscular dystrophy, limb-girdle, type 1D, formerly",
          "muscular dystrophy, limb-girdle, type 1E"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021018"
    },
    {
      "id": 20668,
      "label": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16083,
        19804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070247",
          "DOID:0110301",
          "GARD:0010230",
          "ICD9:425.4",
          "MEDGEN:98048",
          "MESH:C535898",
          "NCIT:C126745",
          "OMIM:159001",
          "OMIM:181350",
          "Orphanet:264",
          "SCTID:240072005",
          "SCTID:718178006",
          "UMLS:C0410190"
        ],
        "synonyms": [
          "EDMD2",
          "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
          "Hauptmann-Thannhauser muscular dystrophy",
          "LGMD1B",
          "LMNA autosomal dominant limb-girdle muscular dystrophy",
          "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA",
          "limb-girdle muscular dystrophy due to lamin A/C deficiency",
          "muscular dystrophy, limb-girdle type 1B",
          "proximal muscular dystrophy type 1B",
          "EMD2",
          "Emery-Dreifuss muscular dystrophy, autosomal dominant",
          "benign scapuloperoneal muscular dystrophy with cardiomyopathy",
          "limb-girdle muscular dystrophy type 1B",
          "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant",
          "muscular dystrophy, limb-girdle, type 1B",
          "muscular dystrophy, proximal, type 1B",
          "scapuloilioperoneal atrophy with cardiopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021569"
    },
    {
      "id": 21777,
      "label": "muscular dystrophy, limb-girdle, autosomal dominant 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022272",
          "MEDGEN:1648316",
          "OMIM:618129",
          "Orphanet:565909",
          "UMLS:C4748295"
        ],
        "synonyms": [
          "LGMD type D4",
          "LGMD1I",
          "LGMDD4",
          "calpain-3-related LGMD D4",
          "calpain-3-related limb-girdle muscular dystrophy D4",
          "limb-girdle muscular dystrophy type D4",
          "muscular dystrophy, limb-girdle, autosomal dominant 4",
          "muscular dystrophy, limb-girdle, type 1I"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0029133"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17384,
      "label": "limb-girdle muscular dystrophy"
    }
  ]
}