{ "id": 16084, "label": "autosomal recessive limb-girdle muscular dystrophy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015152", "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." }, "isLeaf": false, "isRoot": false, "child_count": 32, "parents": [ { "id": 7611, "label": "autosomal recessive disease", "isLeaf": false, "isRoot": false, "parents": [ 2905 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050737", "EFO:1000017", "ICD9:758.5", "MEDGEN:539209", "SCTID:85995004", "UMLS:C0265388" ], "synonyms": [ "autosomal recessive disease or disorder", "autosomal recessive hereditary disease", "autosomal recessive hereditary disorder", "autosomal recessive inherited disease", "autosomal recessive inherited disorder", "disease or disorder, autosomal recessive", "disease, autosomal recessive", "recessive hereditary disorder (autosomal)" ], "definition": "Autosomal recessive form of disease." }, "child_count": 219, "reference_id": "MONDO:0006025" }, { "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": 10424, "label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16084, 16784, 17887, 29296 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090017", "GARD:0002137", "MEDGEN:418981", "MESH:C535955", "NANDO:2201376", "OMIM:226670", "Orphanet:257", "SCTID:723308003", "UMLS:C2931072" ], "synonyms": [ "EBS-MD", "epidermolysis bullosa simplex 5B, with muscular dystrophy", "epidermolysis bullosa simplex and limb-girdle muscular dystrophy", "epidermolysis bullosa simplex with muscular dystrophy", "limb-girdle muscular dystrophy with epidermolysis bullosa simplex", "EBSMD", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysa bullosa simplex with muscular dystrophy", "MD-EBS", "MDEBS", "epidermolysis bullosa simplex - limb girdle muscular dystrophy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." }, "child_count": 0, "reference_id": "MONDO:0009181" }, { "id": 10889, "label": "autosomal recessive limb-girdle muscular dystrophy type 2A", "isLeaf": true, "isRoot": false, "parents": [ 16084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110275", "GARD:0001057", "MEDGEN:358391", "MESH:C535895", "NCIT:C142079", "OMIM:253600", "Orphanet:267", "SCTID:715341003", "UMLS:C1869123" ], "synonyms": [ "CAPN3 autosomal recessive limb-girdle muscular dystrophy", "LGMD2A", "Leyden-Moebius muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3", "autosomal recessive limb-girdle muscular dystrophy type 2A", "calpainopathy", "limb-girdle muscular dystrophy due to calpain deficiency", "limb-girdle muscular dystrophy type 2A", "muscular dystrophy, limb-girdle, autosomal recessive 1", "muscular dystrophy, limb-girdle, type 2A", "primary calpainopathy", "LGMD2", "limb-girdle muscular dystrophy type 2", "muscular dystrophy limb girdle type 2A, erb type", "muscular dystrophy, Pelvofemoral", "muscular dystrophy, limb-girdle, type 2", "myositis, eosinophilic" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." }, "child_count": 0, "reference_id": "MONDO:0009675" }, { "id": 10890, "label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16750 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110276", "GARD:0008574", "MEDGEN:338149", "MESH:C535899", "NCIT:C142080", "OMIM:253601", "Orphanet:268", "SCTID:718179003", "UMLS:C1850889" ], "synonyms": [ "DYSF autosomal recessive limb-girdle muscular dystrophy", "LGMD2B", "LGMD3", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF", "limb-girdle muscular dystrophy due to dysferlin deficiency", "limb-girdle muscular dystrophy type 2B", "muscular dystrophy, limb-girdle, autosomal recessive 2", "limb-girdle muscular dystrophy, type 2B", "muscular dystrophy, limb-girdle, type 2B", "muscular dystrophy, limb-girdle, type 3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." }, "child_count": 0, "reference_id": "MONDO:0009676" }, { "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" }, { "id": 10897, "label": "autosomal recessive limb-girdle muscular dystrophy type 2H", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16754 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110282", "GARD:0003844", "ICD9:359.89", "MEDGEN:78750", "MESH:C535897", "OMIM:254110", "Orphanet:1878", "SCTID:43226001", "UMLS:C0270968" ], "synonyms": [ "LGMD2H", "Sarcotubular myopathy", "TRIM32 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32", "autosomal recessive limb-girdle muscular dystrophy type 2H", "limb-girdle muscular dystrophy due to TRIM32 deficiency", "muscular dystrophy, limb-girdle, autosomal recessive 8", "sarcotubular myopathy", "limb-girdle muscular dystrophy type 2H", "muscular dystrophy limb-girdle type 2H", "muscular dystrophy, Hutterite type", "muscular dystrophy, limb-girdle, type 2H" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." }, "child_count": 0, "reference_id": "MONDO:0009683" }, { "id": 12154, "label": "autosomal recessive limb-girdle muscular dystrophy type 2F", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16749, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110280", "GARD:0008573", "MEDGEN:331308", "MESH:C535896", "OMIM:601287", "Orphanet:219", "SCTID:718177001", "UMLS:C1832525" ], "synonyms": [ "delta-sarcoglycanopathy", "LGMD2F", "SGCD autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD", "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency", "muscular dystrophy, limb-girdle, autosomal recessive 6", "limb-girdle muscular dystrophy type 2F", "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency", "muscular dystrophy, limb-girdle, type 2F" ], "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 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." }, "child_count": 0, "reference_id": "MONDO:0011028" }, { "id": 12292, "label": "autosomal recessive limb-girdle muscular dystrophy type 2G", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16779 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110281", "GARD:0010471", "MEDGEN:400895", "MESH:C566599", "OMIM:601954", "Orphanet:34514", "SCTID:720522001", "UMLS:C1866008" ], "synonyms": [ "LGMD2G", "TCAP autosomal recessive limb-girdle muscular dystrophy", "Tcap autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap", "limb-girdle muscular dystrophy due to telethonin deficiency", "muscular dystrophy, limb-girdle, autosomal recessive 7", "muscular dystrophy, limb-girdle, type 2G", "limb-girdle muscular dystrophy, type 2G" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed." }, "child_count": 0, "reference_id": "MONDO:0011170" }, { "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" }, { "id": 12871, "label": "autosomal recessive limb-girdle muscular dystrophy type 2I", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16756, 24462 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110299", "GARD:0012533", "MEDGEN:339580", "MESH:C564612", "NCIT:C126739", "OMIM:607155", "Orphanet:34515", "SCTID:718180000", "UMLS:C1846672" ], "synonyms": [ "FKRP autosomal recessive limb-girdle muscular dystrophy", "LGMD-FKRP related", "LGMD2I", "MDDGC5", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP", "limb-girdle muscular dystrophy due to FKRP deficiency", "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5", "limb-girdle muscular dystrophy type 2I", "muscular dystrophy, limb-girdle, type 2I", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5", "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." }, "child_count": 0, "reference_id": "MONDO:0011787" }, { "id": 13039, "label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16746, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110278", "GARD:0000438", "MEDGEN:424706", "NCIT:C142081", "OMIM:608099", "Orphanet:62", "SCTID:715340002", "UMLS:C2936332" ], "synonyms": [ "Alpha-sarcoglycanopathy", "DMDA2", "LGMD2D", "SGCA autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA", "limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency", "limb-girdle muscular dystrophy type 2D", "muscular dystrophy, limb-girdle, autosomal recessive 3", "muscular dystrophy, limb-girdle, type 2D", "Adhalinopathy, primary", "Duchenne-like autosomal recessive muscular dystrophy, type 2", "limb-girdle muscular dystrophy, type 2D", "muscular dystrophy limb-girdle with alpha-sarcoglycan" ], "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 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." }, "child_count": 0, "reference_id": "MONDO:0011968" }, { "id": 13193, "label": "autosomal recessive limb-girdle muscular dystrophy type 2J", "isLeaf": true, "isRoot": false, "parents": [ 16084, 24219 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110283", "GARD:0012534", "MEDGEN:324741", "MESH:C563854", "OMIM:608807", "Orphanet:140922", "UMLS:C1837342" ], "synonyms": [ "LGMD2J", "TTN autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN", "muscular dystrophy, limb-girdle, autosomal recessive 10", "muscular dystrophy, limb-girdle, type 2J", "limb-girdle muscular dystrophy type 2J" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." }, "child_count": 0, "reference_id": "MONDO:0012127" }, { "id": 13307, "label": "autosomal recessive limb-girdle muscular dystrophy type 2K", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 16771, 24466 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110297", "GARD:0012535", "MEDGEN:332193", "NCIT:C133730", "OMIM:609308", "Orphanet:86812", "SCTID:720523006", "UMLS:C1836373" ], "synonyms": [ "LGMD-POMT1 related", "LGMD2K", "MDDGC1", "POMT1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1", "limb-girdle muscular dystrophy-intellectual disability syndrome", "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1", "limb-girdle muscular dystrophy - intellectual disability", "limb-girdle muscular dystrophy type 2K", "muscular dystrophy, limb-girdle, type 2K", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." }, "child_count": 0, "reference_id": "MONDO:0012248" }, { "id": 13693, "label": "autosomal recessive limb-girdle muscular dystrophy type 2L", "isLeaf": true, "isRoot": false, "parents": [ 16084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110284", "GARD:0012536", "MEDGEN:370102", "MESH:C566968", "OMIM:611307", "Orphanet:206549", "UMLS:C1969785" ], "synonyms": [ "ANO5 autosomal recessive limb-girdle muscular dystrophy", "LGMD2L", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5", "muscular dystrophy, limb-girdle, autosomal recessive 12", "muscular dystrophy, limb-girdle, type 2L", "limb-girdle muscular dystrophy type 2L" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." }, "child_count": 0, "reference_id": "MONDO:0012652" }, { "id": 13739, "label": "autosomal recessive limb-girdle muscular dystrophy type 2M", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 16878, 24463 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110296", "GARD:0012538", "MEDGEN:370585", "MESH:C566912", "OMIM:611588", "Orphanet:206554", "UMLS:C1969040" ], "synonyms": [ "FKTN autosomal recessive limb-girdle muscular dystrophy", "LGMD-FKTN related", "LGMD2M", "MDDGC4", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "limb-girdle muscular dystrophy type 2M", "muscular dystrophy, limb-girdle, type 2M", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, "child_count": 0, "reference_id": "MONDO:0012699" }, { "id": 14197, "label": "autosomal recessive limb-girdle muscular dystrophy type 2O", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 24464 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110292", "GARD:0012540", "MEDGEN:461767", "OMIM:613157", "Orphanet:206564", "UMLS:C3150417" ], "synonyms": [ "LGMD-POMGNT1 related", "LGMD2O", "MDDGC3", "POMGNT1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1", "limb-girdle muscular dystrophy type 2O", "muscular dystrophy, limb-girdle, type 2O", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3", "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." }, "child_count": 0, "reference_id": "MONDO:0013161" }, { "id": 14198, "label": "autosomal recessive limb-girdle muscular dystrophy type 2N", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 16772, 24467 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110298", "GARD:0012539", "MEDGEN:461768", "OMIM:613158", "Orphanet:206559", "UMLS:C3150418" ], "synonyms": [ "LGMD-POMT2 related", "LGMD2N", "MDDGC2", "POMT2 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2", "limb-girdle muscular dystrophy type 2N", "muscular dystrophy, limb-girdle, type 2N", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2", "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0013162" }, { "id": 14423, "label": "autosomal recessive limb-girdle muscular dystrophy type 2Q", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16784, 29296 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110285", "GARD:0012542", "MEDGEN:462339", "OMIM:613723", "Orphanet:254361", "UMLS:C3150989" ], "synonyms": [ "LGMD2Q", "muscular dystrophy, limb-girdle, autosomal recessive 17", "muscular dystrophy, limb-girdle, type 2Q", "limb-girdle muscular dystrophy type 2Q" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." }, "child_count": 0, "reference_id": "MONDO:0013390" }, { "id": 14472, "label": "autosomal recessive limb-girdle muscular dystrophy type 2P", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 16168 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110293", "GARD:0012541", "MEDGEN:1386785", "OMIM:613818", "Orphanet:280333", "UMLS:C4511963" ], "synonyms": [ "DAG1 autosomal recessive limb-girdle muscular dystrophy", "LGMD2P", "MDDGC9", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1", "limb-girdle muscular dystrophy type 2P", "muscular dystrophy, limb-girdle, type 2P", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9", "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." }, "child_count": 0, "reference_id": "MONDO:0013440" }, { "id": 15149, "label": "autosomal recessive limb-girdle muscular dystrophy type 2T", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 24480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110294", "GARD:0012544", "MEDGEN:1377325", "OMIM:615352", "Orphanet:363623", "UMLS:C4518000" ], "synonyms": [ "GMPPB autosomal recessive limb-girdle muscular dystrophy", "LGMD-GMPPB related", "LGMD2T", "MDDGC14", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB", "limb-girdle muscular dystrophy type 2T", "muscular dystrophy, limb-girdle, type 2T", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14", "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." }, "child_count": 0, "reference_id": "MONDO:0014142" }, { "id": 15151, "label": "autosomal recessive limb-girdle muscular dystrophy type R18", "isLeaf": true, "isRoot": false, "parents": [ 16084, 18366 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110287", "GARD:0012543", "MEDGEN:1385598", "OMIM:615356", "Orphanet:369840", "UMLS:C4517996" ], "synonyms": [ "LGMD2S", "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11", "autosomal recessive limb-girdle muscular dystrophy type 2S", "muscular dystrophy, limb-girdle, autosomal recessive 18", "muscular dystrophy, limb-girdle, type 2S", "limb-girdle muscular dystrophy type 2S" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." }, "child_count": 0, "reference_id": "MONDO:0014144" }, { "id": 15473, "label": "autosomal recessive limb-girdle muscular dystrophy type 2U", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 24255 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110295", "GARD:0017519", "MEDGEN:1683417", "OMIM:616052", "Orphanet:352479", "UMLS:C5190987" ], "synonyms": [ "ISPD autosomal recessive limb-girdle muscular dystrophy", "LGMD2U", "MDDGC7", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD", "muscular dystrophy, limb-girdle, type 2U", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." }, "child_count": 0, "reference_id": "MONDO:0014474" }, { "id": 15488, "label": "limb-girdle muscular dystrophy due to POMK deficiency", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 16755 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112381", "GARD:0017769", "MEDGEN:863621", "OMIM:616094", "Orphanet:445110", "UMLS:C4015184" ], "synonyms": [ "LGMD due to POMK deficiency", "MDDGC12", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12", "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." }, "child_count": 0, "reference_id": "MONDO:0014489" }, { "id": 15771, "label": "autosomal recessive limb-girdle muscular dystrophy type 2X", "isLeaf": true, "isRoot": false, "parents": [ 16084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110290", "GARD:0017847", "MEDGEN:1799561", "OMIM:616812", "Orphanet:476084", "UMLS:C5568138" ], "synonyms": [ "BVES autosomal recessive limb-girdle muscular dystrophy", "LGMD2X", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES", "autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome", "muscular dystrophy, limb-girdle, autosomal recessive 25", "muscular dystrophy, limb-girdle, type 2X", "muscular dystrophy, limb-girdle, type 2x" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers." }, "child_count": 0, "reference_id": "MONDO:0014782" }, { "id": 15776, "label": "autosomal recessive limb-girdle muscular dystrophy type 2W", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110288", "GARD:0017834", "MEDGEN:897675", "OMIM:616827", "Orphanet:466801", "UMLS:C4225192" ], "synonyms": [ "LGMD2W", "LIMS2 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2", "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue", "muscular dystrophy, limb-girdle, type 2W", "muscular dystrophy, limb-girdle, type 2w" ], "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 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration." }, "child_count": 0, "reference_id": "MONDO:0014788" }, { "id": 15880, "label": "autosomal recessive limb-girdle muscular dystrophy type 2Y", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16084, 24306 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110289", "GARD:0017708", "MEDGEN:1385152", "NCIT:C181000", "OMIM:617072", "Orphanet:424261", "SCTID:725907002", "UMLS:C4511482" ], "synonyms": [ "LGMD2Y", "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1", "autosomal recessive muscular dystrophy due to LAP1B deficiency", "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency", "muscular dystrophy with progressive weakness, distal contractures and rigid spine", "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." }, "child_count": 0, "reference_id": "MONDO:0014900" }, { "id": 15955, "label": "autosomal recessive limb-girdle muscular dystrophy type 2R1", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16084, 17974 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080762", "GARD:0017869", "MEDGEN:934627", "NCIT:C142082", "OMIM:617232", "Orphanet:480682", "UMLS:C4310660" ], "synonyms": [ "LGMD2Z", "POGLUT1 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1", "autosomal recessive limb-girdle muscular dystrophy type 2Z", "limb-girdle muscular dystrophy type 2Z", "muscular dystrophy, limb-girdle, autosomal recessive 21", "muscular dystrophy, limb-girdle, type 2Z" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients." }, "child_count": 0, "reference_id": "MONDO:0014977" }, { "id": 21779, "label": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 24471 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112382", "GARD:0016294", "MEDGEN:1648468", "OMIM:618135", "UMLS:C4748320" ], "synonyms": [ "LGMD-POMGNT2 related myopathy", "MDDGC8", "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related", "muscular dystrophy, limb-girdle, autosomal recessive 24", "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0029135" }, { "id": 21780, "label": "muscular dystrophy, limb-girdle, autosomal recessive 23", "isLeaf": true, "isRoot": false, "parents": [ 16084, 23969 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061132", "GARD:0022270", "MEDGEN:1648462", "OMIM:618138", "Orphanet:565837", "UMLS:C4748327" ], "synonyms": [ "laminin subunit alpha 2-related limb-girdle muscular dystrophy R23", "muscular dystrophy, limb-girdle, autosomal recessive 23", "LGMDR23" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0029136" }, { "id": 21801, "label": "muscular dystrophy, limb-girdle, autosomal recessive 26", "isLeaf": true, "isRoot": false, "parents": [ 16084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061131", "GARD:0025507", "MEDGEN:1718449", "OMIM:618848", "UMLS:C5394268" ], "synonyms": [ "LGMDR26", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26", "muscular dystrophy, limb-girdle, autosomal recessive 26" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030014" }, { "id": 21926, "label": "muscular dystrophy, limb-girdle, autosomal recessive 27", "isLeaf": true, "isRoot": false, "parents": [ 16084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061133", "GARD:0025567", "MEDGEN:1794212", "OMIM:619566", "UMLS:C5562002" ], "synonyms": [ "LGMDR27" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030456" }, { "id": 25637, "label": "muscular dystrophy, limb-girdle, autosomal recessive 28", "isLeaf": true, "isRoot": false, "parents": [ 16084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061130", "GARD:0026805", "MEDGEN:1841154", "OMIM:620375", "Orphanet:653725", "UMLS:C5830518" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957270" }, { "id": 26078, "label": "muscular dystrophy, limb-girdle, autosomal recessive 29", "isLeaf": true, "isRoot": false, "parents": [ 16084, 24308 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061134", "GARD:0027207", "MEDGEN:1861320", "OMIM:620793", "UMLS:C5935611" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0971171" } ], "roots": [ { "id": 7611, "label": "autosomal recessive disease" }, { "id": 17384, "label": "limb-girdle muscular dystrophy" } ] }