ANO5 - anoctamin 5 Gene

GDD

Osteogenesis Imperfecta With Unusual Skeletal Lesions

Gnathodiaphyseal Sclerosis

Osteogenesis Imperfecta, Levin Type

Levin Syndrome 2

Dysplasia, Gnathodiaphyseal

MMD3

Miyoshi Myopathy 3

Distal Anoctaminopathy

Miyoshi Muscular Dystrophy Type 3

Dystrophy, Muscular, Miyoshi, Type 3

Muscular Dystrophy, Limb-Girdle, Type 2l

Lgmd2l

LGMDR12

Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12

Anoctamin-5-Related Lgmd R12

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd Type 2l

Limb-Girdle Muscular Dystrophy Type 2l

Limb-Girdle Muscular Dystrophy 2l

Limb-Girdle Muscular Dystrophy, Type 2l

Dystrophy, Muscular, Limb-Girdle, Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

Elevated Serum Cpk

Idiopathic Hyperckemia

Isolated Hyperckemia

Elevated Serum Creatine Phosphokinase

H-Ck

Idiopathic Persistent Elevation Of Serum Creatine Kinase

Hyperckemia, Idiopathic

Cpk, Elevated Serum

Hyperckmia

HYPCK

Hereditary Fructose Intolerance

Fructose Intolerance

Fructose-1-Phosphate Aldolase Deficiency

Fructose-1,6-Bisphosphate Aldolase B Deficiency

Aldolase B Deficiency

Fructosemia

Aldob Deficiency

Hereditary Fructose Intolerance Syndrome

HFI

Fructosaemia

Hereditary Fructose-1-Phosphate Aldolase Deficiency

Fructose Aldolase B Deficiency

Fructose-1,6-Biphosphate Aldolase Deficiency

Hereditary Fructosemia

Fructosemia, Hereditary

Hereditary Fructosaemia

Fructose-Biphosphate Aldolase B Deficiency

Fructose Intolerance Of Newborn

Aldb - [Aldolase B] Deficiency

Deficiency Of Fructose-Bisphosphate Aldolase

Muscular Diseases

Myopathies

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Distal Myopathy

Distal Muscular Dystrophy

Miyoshi Myopathy

Distal Myopathies

Dystrophy, Muscular, Miyoshi

Myopathy, Distal

Distal Muscular Dystrophies

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

SCAR10

Autosomal Recessive Spinocerebellar Ataxia 10

Adult-Onset Autosomal Recessive Cerebellar Ataxia

Autosomal Recessive Spinocerebellar Ataxia Type 10

Spinocerebellar Ataxia, Autosomal Recessive, 10

Ataxia, Spinocerebellar, Autosomal Recessive, Type 10

Lgmd2b

Lgmd3

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy Type 3

Muscular Dystrophy, Limb-Girdle, Type 2b

MPD3

Distal Muscular Dystrophy 3

Distal Myopathy Type 3

Myopathy, Distal 3

Distal Myopathy 3

Finnish Upper Limb-Onset Distal Myopathy

Leyden-Moebius Muscular Dystrophy

Lgmd2a

Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2a

Pelvofemoral Muscular Dystrophy

Primary Calpainopathy

Distal Myopathy With Posterior Leg And Anterior Hand Involvement

MPD4

Williams Distal Myopathy

Distal Muscular Dystrophy 4

Distal Abd-Filaminopathy

Distal Myopathy 4

Myopathy, Distal, Type 4

Lgmd2x

Muscular Dystrophy, Limb-Girdle, Type 2x

Muscular Dystrophy, Limb-Girdle, Type 1e

Lgmd1d

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d

LGMDD1

Lgmd1e

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1

Limb-Girdle Muscular Dystrophy Type 1d

Muscular Dystrophy, Limb-Girdle, Type 1d

Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly

Lgmd1d, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

Muscular Dystrophy Limb-Girdle Type 1d

Muscular Dystrophy Limb-Girdle Type 1e

Dnajb6-Related Limb-Girdle Muscular Dystrophy D1

Dnajb6-Related Lgmd D1

Lgmd Type 1d

Limb-Girdle Muscular Dystrophy 1e

Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant

Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1

Dystrophy, Muscular, Limb-Girdle, Type 1e

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

Lgmd2k

MDDGC1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11

Lgmdr11

Muscular Dystrophy, Limb-Girdle, Type 2k

Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome

Limb-Girdle Muscular Dystrophy Type 2k

Muscular Dystrophy Limb-Girdle Type 2k

Muscular Dystrophy-Dystroglycanopathy Type C 1

Pomt1-Related Limb-Girdle Muscular Dystrophy R11

Lgmd Type 2k

Pomt1-Related Lgmd R11

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1

Dystrophy, Muscular, Limb-Girdle, Type 2k

Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t

Lgmd2t

MDDGC14

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19

Lgmdr19

Muscular Dystrophy Limb-Girdle Type 2t

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related

Muscular Dystrophy, Limb-Girdle, Type 2t

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related

Muscular Dystrophy-Dystroglycanopathy Type C14

Gmppb-Related Limb-Girdle Muscular Dystrophy R19

Gmppb-Related Lgmd R19

Lgmd Type 2t

Limb-Girdle Muscular Dystrophy Type 2t

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14

Dystrophy, Muscular, Limb-Girdle, Type 2t

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m

Lgmd2m

MDDGC4

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13

Lgmdr13

Muscular Dystrophy, Limb-Girdle, Type 2m

Muscular Dystrophy-Dystroglycanopathy Type C 4

Fukutin-Related Limb-Girdle Muscular Dystrophy R13

Autosomal Recessive Lgmd Type 2m

Fukutin-Related Lgmd R13

Lgmd Type 2m

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4

Limb-Girdle Muscular Dystrophy Type 2m

Mdgd4c

Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c

Dystrophy, Muscular, Limb-Girdle, Type 2m

Lgmd2w

Muscular Dystrophy, Limb-Girdle, Type 2w

Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1

Deficiency Of Sarcoglycan Gamma

Dmda1

Gamma-Sarcoglycanopathy

Lgmd2c

Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency

Maghrebian Myopathy

Muscular Dystrophy, Limb-Girdle, Type 2c

Scarmd

Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type

Lgmd2g

Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2g

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o

MDDGC3

Lgmd2o

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15

Lgmdr15

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related

Muscular Dystrophy, Limb-Girdle, Type 2o

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related

Muscular Dystrophy-Dystroglycanopathy Type C3

Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15

Lgmd Type 2o

Limb-Girdle Muscular Dystrophy Type 2o

Pomgnt1-Related Lgmd R15

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3

Dystrophy, Muscular, Limb-Girdle, Type 2o

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n

Lgmd2n

MDDGC2

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14

Lgmdr14

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related

Limb-Girdle Muscular Dystrophy Type 2n

Muscular Dystrophy, Limb-Girdle, Type 2n

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related

Muscular Dystrophy-Dystroglycanopathy Type C 2

Pomt2-Related Limb-Girdle Muscular Dystrophy R14

Lgmd Type 2n

Pomt2-Related Lgmd R14

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2

Mdgd2c

Dystrophy, Muscular, Limb-Girdle, Type 2n

SCTS

Bdplt7

Prothrombin Consumption Deficiency

Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X

Bleeding Disorder, Platelet-Type, 7

Prothrombin Conversion Defect, Familial

Prothrombin Consumption Inhibitor, Familial

Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X

Familial Prothrombin Consumption Inhibitor

Familial Prothrombin Conversion Defect

Platelet-Type Bleeding Disorder 7

Platelet Factor X Receptor Deficiency

Bleeding Disorder Platelet-Type 7

Prothrombin Consumption Inhibitor Familial

Prothrombin Conversion Defect Familial

Alpha-Sarcoglycanopathy

Dmda2

Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2

Lgmd2d

Muscular Dystrophy, Limb-Girdle, Type 2d

Primary Adhalinopathy

Lgmd2i

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i

MDDGC5

Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency

Limb-Girdle Muscular Dystrophy Type 2i

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9

Lgmdr9

Muscular Dystrophy, Limb-Girdle, Type 2i

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related

Fkrp-Related Limb-Girdle Muscular Dystrophy R9

Fkrp-Related Lgmd R9

Lgmd Due To Fkrp Deficiency

Lgmd Type 2i

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related

Muscular Dystrophy Limb-Girdle Type 2i

Muscular Dystrophy-Dystroglycanopathy Type C 5

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5

Dystrophy, Muscular, Limb-Girdle, Type 2i

SMA2

Sma Ii

Muscular Atrophy, Spinal, Intermediate Type

Muscular Atrophy, Spinal, Infantile Chronic Form

Intermediate Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Ii

Spinal Muscular Atrophy-2

Spinal Muscular Atrophy 2

Spinal Muscular Atrophy Type 2

Dubowitz Disease

Proximal Spinal Muscular Atrophy Type 2

Sma Type 2

Sma Type Ii

Sma-Ii

Spinal Muscular Atrophy Infantile Chronic Form

Spinal Muscular Atrophy Intermediate Type

Spinal Muscular Atrophies Of Childhood

Atrophy, Muscular, Spinal, Type Ii

Muscular Atrophy, Spinal, Type Ii

Peripheral Ossifying Fibroma

Fibro-Osteoma

Fibroma Ossifying

Fibroma, Ossifying

Lgmd2h

Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

Muscular Dystrophy Hutterite Type

Sarcotubular Myopathy

Limb-Girdle Muscular Dystrophy Type 2h

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

Congenital Myotonia, Autosomal Dominant Form

Congenital Myotonia

Thomsen And Becker Disease

Thomsen Disease

Thomsen'S Disease

Generalized Myotonia Of Thomsen

Congenital Myotonic Muscular Dystrophy

Myotonia Congenita Nos

Bethlem Myopathy

Myopathy, Benign Congenital, With Contractures

Muscular Dystrophy, Benign Congenital

BTHLM1

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

Lgmdd5

Benign Congenital Muscular Dystrophy

Benign Autosomal Dominant Myopathy

Myopathy, Bethlem

Myopathy, Bethlem, Type 1

Hereditary Myopathy With Early Respiratory Failure

Hmerf

Myopathy, Proximal, With Early Respiratory Muscle Involvement

Edstrom Myopathy

Mfm-Titinopathy

MFM9

Mprm

Hereditary Inclusion Body Myopathy With Early Respiratory Failure

Hibm-Erf

Myofibrillar Myopathy-Titinopathy

Myofibrillar Myopathy With Early Respiratory Failure

Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

Myofibrillar Myopathy 9

Myofibrillar Myopathy 9 With Early Respiratory Failure

Autosomal Dominant Distal Myopathy With Early Respiratory Failure

Proximal Myopathy With Early Respiratory Muscle Involvement

Hereditary Proximal Myopathy With Early Respiratory Failure

Admerf

Edström Myopathy

Hmerf-Erf

Pompe Disease

Glycogen Storage Disease Type Ii

Acid Maltase Deficiency

Gsd Ii

Gaa Deficiency

Alpha-1,4-Glucosidase Deficiency

Glycogenosis Type Ii

GSD2

Acid Alpha-Glucosidase Deficiency

Amd

Glycogen Storage Disease, Type Ii

Pompe'S Disease

Glycogen Storage Disease Type 2

Cardiomegalia Glycogenica Diffusa

Acid Maltase Deficiency Disease

Deficiency Of Alpha-Glucosidase

Glycogenosis, Generalized, Cardiac Form

Deficiency Of Glucoamylase

Deficiency Of Maltase

Generalized Glycogenosis

Glycogenosis, Type 2

Lysosomal Alpha-1,4-Glucosidase Deficiency

Glucosidase Acid-1,4-Alpha Deficiency

Aglucosidase Alfa

Deficiency Of Lysosomal Alpha-Glucosidase

Glycogen Storage Disease Due To Acid Maltase Deficiency

Alpha-1,4-Glucosidase Acid Deficiency

Gsd Due To Acid Maltase Deficiency

Gsd Type 2

Gsd Type Ii

Glycogenosis Due To Acid Maltase Deficiency

Glycogenosis Type 2

Glycogen Storage Disease 2

Cardiomegalia Glycogenica

Glycogenosis Generalized Cardiac Form

Glycogenosis Ii

Gsd-Ii

Storage Disease, Glycogen, Type Ii

Generalized Glycogen Storage Disease Of Infants

Cardiac Form Of Generalized Glycogenosis

Syndactyly Type 7

Cenani Syndactylism

Cenani-Lenz Syndactyly

CLSS

Syndactyly Cenani Lenz Type

Cenani-Lenz Syndrome

Syndactyly, Type Vii

Cenani-Lenz Type Syndactyly

Cenani Syndactyly

Syndactyly Type Vii

Tmd

Udd Myopathy

Distal Titinopathy

Finnish Tibial Muscular Dystrophy

Tardive Tibial Muscular Dystrophy

Udd Type Distal Myopathy

Udd Distal Myopathy

Udd-Markesbery Muscular Dystrophy

Distal Myopathy, Udd Type

Distal Myopathies

Tibial Muscular Dystrophy, Tardive

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

SMA3

Juvenile Spinal Muscular Atrophy

Kugelberg-Welander Disease

Sma Iii

Kugelberg-Welander Syndrome

Kws

Muscular Atrophy, Juvenile

Spinal Muscular Atrophy, Mild Childhood And Adolescent Form

Spinal Muscular Atrophy-3

Spinal Muscular Atrophy Type 3

Spinal Muscular Atrophy, Type Iii, Modifier Of

Type Iii Spinal Muscular Atrophy

Sma 3

Proximal Spinal Muscular Atrophy Type 3

Sma Type 3

Sma Type Iii

Sma-Iii

Spinal Muscular Atrophy 3

Spinal Muscular Atrophy Mild Childhood And Adolescent Form

Spinal Muscular Atrophy Type Iii

Wohlfart-Kugelberg-Welander Disease

Atrophy, Muscular, Spinal, Type Iii

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder