| Diseases |
Alias |
|
| Gnathodiaphyseal Dysplasia |
|
GDD
|
Osteogenesis Imperfecta With Unusual Skeletal Lesions
|
|
Gnathodiaphyseal Sclerosis
|
Osteogenesis Imperfecta, Levin Type
|
|
Levin Syndrome 2
|
Dysplasia, Gnathodiaphyseal
|
|
|
| Miyoshi Muscular Dystrophy 3 |
|
MMD3
|
Miyoshi Myopathy 3
|
|
Distal Anoctaminopathy
|
Miyoshi Muscular Dystrophy Type 3
|
|
Dystrophy, Muscular, Miyoshi, Type 3
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
|
Lgmd2l
|
Muscular Dystrophy, Limb-Girdle, Type 2l
|
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
Elevated Serum Cpk
|
Idiopathic Hyperckemia
|
|
Isolated Hyperckemia
|
Elevated Serum Creatine Phosphokinase
|
|
H-Ck
|
Idiopathic Persistent Elevation Of Serum Creatine Kinase
|
|
|
| Creatine Phosphokinase, Elevated Serum |
|
Hyperckemia, Idiopathic
|
Cpk, Elevated Serum
|
|
Hyperckmia
|
HYPCK
|
|
|
| Fructose Intolerance, Hereditary |
|
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
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| Muscular Dystrophy |
|
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
|
|
|
| Miyoshi Muscular Dystrophy |
|
Distal Myopathy
|
Distal Muscular Dystrophy
|
|
Miyoshi Myopathy
|
Distal Myopathies
|
|
Dystrophy, Muscular, Miyoshi
|
Myopathy, Distal
|
|
Distal Muscular Dystrophies
|
|
|
| Limb-Girdle Muscular Dystrophy |
|
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
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
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
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
Lgmd2b
|
Lgmd3
|
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
Limb-Girdle Muscular Dystrophy Type 3
|
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
|
| Myopathy, Distal, 3 |
|
MPD3
|
Distal Muscular Dystrophy 3
|
|
Distal Myopathy Type 3
|
Myopathy, Distal 3
|
|
Distal Myopathy 3
|
Finnish Upper Limb-Onset Distal Myopathy
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
Leyden-Moebius Muscular Dystrophy
|
Lgmd2a
|
|
Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2a
|
|
Pelvofemoral Muscular Dystrophy
|
Primary Calpainopathy
|
|
|
| Myopathy, Distal, 4 |
|
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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
|
Lgmd2x
|
Muscular Dystrophy, Limb-Girdle, Type 2x
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
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
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
|
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
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
|
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
|
|
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
|
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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
|
Lgmd2w
|
Muscular Dystrophy, Limb-Girdle, Type 2w
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
|
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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
|
Lgmd2g
|
Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency
|
|
Muscular Dystrophy, Limb-Girdle, Type 2g
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
|
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
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
|
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
|
|
|
| Scott Syndrome |
|
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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
Alpha-Sarcoglycanopathy
|
Dmda2
|
|
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2
|
Lgmd2d
|
|
Muscular Dystrophy, Limb-Girdle, Type 2d
|
Primary Adhalinopathy
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
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
|
|
|
| Spinal Muscular Atrophy, Type Ii |
|
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
|
|
|
| Ossifying Fibroma |
|
Peripheral Ossifying Fibroma
|
Fibro-Osteoma
|
|
Fibroma Ossifying
|
Fibroma, Ossifying
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
|
Lgmd2h
|
Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency
|
|
Muscular Dystrophy Hutterite Type
|
Sarcotubular Myopathy
|
|
Limb-Girdle Muscular Dystrophy Type 2h
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
|
Lgmd2j
|
Muscular Dystrophy, Limb-Girdle, Type 2j
|
|
|
| Myotonia Congenita |
|
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 1 |
|
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
|
|
|
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
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
|
|
|
| Glycogen Storage Disease Ii |
|
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
|
|
|
| Cenani-Lenz Syndactyly Syndrome |
|
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
|
|
|
| Tibial Muscular Dystrophy |
|
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
|
|
|
| Myofibrillar Myopathy |
|
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]
|
|
|
| Spinal Muscular Atrophy, Type Iii |
|
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
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Congenital Myasthenic Syndrome |
|
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 Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
