| 疾病名称 |
别名 |
|
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
EDMD1
|
Emd1
|
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
X-Linked Emery-Dreifuss Muscular Dystrophy 1
|
|
Humeroperoneal Neuromuscular Disease
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
|
Scapuloperoneal Syndrome, X-Linked, Formerly
|
Humeroperoneal Neuromuscular Disease, Formerly
|
|
Scapuloperoneal Syndrome, X-Linked
|
Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures
|
|
Scapuloperoneal Syndrome X-Linked
|
X-Edmd
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
|
|
|
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Emery-Dreifuss Muscular Dystrophy, X-Linked
|
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
Edmd
|
Emery-Dreifuss Syndrome
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Humeroperoneal Neuromuscular Disease
|
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
Scapuloperoneal Syndrome, X-Linked
|
|
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures
|
Muscular Dystrophy, Emery-Dreifuss Type
|
|
Muscular Dystrophy Emery-Dreifuss
|
Dystrophy, Muscular, Emery-Dreifuss
|
|
Emd - [Emery-Dreifuss Muscular Dystrophy]
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| 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
|
|
|
| Familial Partial Lipodystrophy |
|
Lipodystrophy, Familial Partial
|
Fpld
|
|
Kobberling-Dunnigan Syndrome
|
Dunnigan Syndrome
|
|
Koberling-Dunnigan Syndrome
|
Dunnigan-Kobberling Syndrome
|
|
Fpl
|
Familial Partial Lipodystrophy, Type 2
|
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
EDMD2
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
|
|
Emd2
|
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
|
|
Scapuloilioperoneal Atrophy With Cardiopathy
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
|
|
Hauptmann-Thannhauser Muscular Dystrophy
|
Cardiomyopathy, Dilated, With Quadriceps Myopathy
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2
|
Muscular Dystrophy, Limb-Girdle, Type 1b
|
|
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly
|
Lgmd1b, Formerly
|
|
Muscular Dystrophy, Proximal, Type 1b, Formerly
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
|
|
Lgmd1b
|
Limb-Girdle Muscular Dystrophy 1b
|
|
Muscular Dystrophy, Proximal, Type 1b
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
|
CMT2S
|
CMT2Y
|
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
|
Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
|
| 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
|
|
|
| Cardiomyopathy, Dilated, 1b |
|
Cardiomyopathy, Familial Dilated, 1
|
Cardiomyopathy, Dilated 1b
|
|
CMD1B
|
Cmpd1
|
|
Cardiomyopathy, Familial Dilated
|
Fdc
|
|
Dilated Cardiomyopathy 1b
|
Familial Dilated Cardiomyopathy
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| Hutchinson-Gilford Progeria Syndrome |
|
Progeria
|
HGPS
|
|
Hutchinson-Gilford Syndrome
|
Hutchinson-Gilford Progeria
|
|
Hutchinson Gilford Syndrome
|
Hutchinson Gilford Progeria Syndrome
|
|
Hutchinson-Gilford Disease
|
Progeria Of Childhood
|
|
Hutchinson-Gilford-Progeria Syndrome
|
|
|
| Atrial Standstill 1 |
|
ATRST1
|
Atrial Cardiomyopathy With Heart Block
|
|
Cardiomyopathy, Familial, With Conduction Disturbance
|
Atrial Standstill, Digenic
|
|
Familial Cardiomyopathy With Conduction Disturbance
|
Standstill, Atrial, Type 1
|
|
Heart Block
|
Cardiomyopathies
|
|
Idiopathic Cardiomyopathy
|
Idiopathic Cardiopathy
|
|
Primary Myocardial Disease
|
Primary Cardiomyopathy
|
|
Myocardiopathy
|
Myocardosis
|
|
Primary Idiopathic Myocardial Disease
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b1 |
|
Charcot-Marie-Tooth Disease Type 2b1
|
Charcot-Marie-Tooth Disease, Type 2b1
|
|
CMT2B1
|
Autosomal Recessive Axonal Cmt4c1
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1
|
Charcot-Marie-Tooth Disease Neuronal Type 2b1
|
|
Charcot-Marie-Tooth Neuropathy Type 2b1
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1
|
Charcot-Marie-Tooth Neuropathy, Type 2b1
|
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1
|
Ar-Cmt2b1
|
|
Charcot-Marie-Tooth Disease 2b1
|
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1
|
|
Charcot-Marie-Tooth Disease Axonal Type 2b1
|
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
|
MDCL
|
L-Cmd
|
|
Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
|
Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
|
Cmd
|
Mdc
|
|
Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
|
Dystrophy, Muscular, Congenital
|
Hereditary Muscular Dystrophy
|
|
Congenital Hereditary Muscular Dystrophy
|
Congenital Progressive Muscular Dystrophy
|
|
Hereditary Progressive Muscular Dystrophy
|
|
|
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
EDMD4
|
Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
|
Emd4
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant
|
Emery-Dreifuss Muscular Dystrophy 4
|
|
|
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
EDMD3
|
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3
|
|
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive
|
Emery-Dreifuss Muscular Dystrophy 3
|
|
|
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
|
XMPMA
|
|
X-Linked Myopathy With Postural Muscle Atrophy
|
X-Linked Emery-Dreifuss Muscular Dystrophy 6
|
|
EDMD6
|
Emd6
|
|
|
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
EDMD7
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7
|
|
Emery-Dreifuss Muscular Dystrophy 7, Ad
|
Emd7
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant
|
|
|
| Buschke-Ollendorff Syndrome |
|
BOS
|
Dermatoosteopoikilosis
|
|
Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis
|
Osteopathia Condensans Disseminata
|
|
Dermatofibrosis Lenticularis Disseminata
|
Disseminated Dermatofibrosis With Osteopoikilosis
|
|
Dermatofibrosis, Disseminated, With Osteopoikilosis
|
Osteopoikilosis With Or Without Melorheostosis
|
|
Dermatofibrosis, Disseminated With Osteopoikilosis
|
Dermatofibrosis Disseminata Lenticularis
|
|
Isolated Osteopoikilosis
|
Osteopoikilosis, Isolated
|
|
|
| Greenberg Dysplasia |
|
Hem Dysplasia
|
Greenberg Skeletal Dysplasia
|
|
Hem Skeletal Dysplasia
|
GRBGD
|
|
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia
|
Moth-Eaten Skeletal Dysplasia
|
|
Chondrodystrophy, Hydropic And Prenatally Lethal Type
|
Hydrops-Ectopic Calcification-Motheaten Syndrome
|
|
Skeletal Dysplasia, Greenberg Type
|
Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops
|
|
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia
|
Hem
|
|
Hem/Greenberg Dysplasia
|
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia
|
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
Arrhythmogenic Right Ventricular Dysplasia
|
Arvc
|
|
Arvd
|
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
|
|
Arvc Cardiomyopathy
|
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
|
|
Arvd/C
|
Right Ventricular Dysplasia, Arrhythmogenic
|
|
Ventricular Dysplasia, Right, Arrhythmogenic
|
Cardiomyopathy, Ventricular, Right, Arrhythmogenic
|
|
Dysplasia, Arrhythmogenic Right Ventricular
|
|
|
| Lipodystrophy, Familial Partial, Type 2 |
|
FPLD2
|
Lipoatrophic Diabetes
|
|
Familial Partial Lipodystrophy Type 2
|
Familial Partial Lipodystrophy, Dunnigan Type
|
|
Fpl2
|
Lipoatrophic Diabetes Mellitus
|
|
Lipodystrophy, Familial Partial, Dunnigan Type
|
Lipodystrophy, Familial, Of Limbs And Lower Trunk
|
|
Lipodystrophy, Reverse Partial
|
Familial Partial Lipodystrophy Dunnigan Type
|
|
Dunnigan Syndrome
|
Familial Lipodystrophy Of Limbs And Lower Trunk
|
|
Reverse Partial Lipodystrophy
|
Lipodystrophy, Familial Partial, 2
|
|
Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules
|
Lipodystrophy Familial Of Limbs And Lower Trunk
|
|
Lipodystrophy Reverse Partial
|
Diabetes Mellitus, Lipoatrophic
|
|
Familial Partial Lipodystrophy, Type 2
|
Familial Generalized Lipodystrophy
|
|
|
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Malouf Syndrome
|
Najjar Syndrome
|
|
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
|
Cardiogenital Syndrome
|
|
Genital Anomaly With Cardiomyopathy
|
Cardiomyopathy With Primary Testicular Failure
|
|
Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism
|
Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism
|
|
Cardiomyopathy, Dilated, With Premature Ovarian Failure
|
Cardiomyopathy Eith Primary Testicular Failure
|
|
Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism
|
Dilated Cardiomyopathy With Premature Ovarian Failure
|
|
CMDHH
|
Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism
|
|
Cardiomyopathy Dilated With Premature Ovarian Failure
|
|
|
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
EDMD5
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5
|
|
Emd5
|
Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant
|
|
|
| Atrial Fibrillation |
|
A-Fib
|
Fibrillation, Atrial
|
|
Af - [Atrial Fibrillation]
|
Rapid Atrial Fibrillation
|
|
A Fib - [Atrial Fibrillation]
|
|
|
| Osteopoikilosis |
|
Osteopathia Condensans Disseminata
|
Spotted Bones
|
|
Dermatofibrosis Lenticularis Disseminata
|
|
|
| Secretory Diarrhea |
|
|
| Pelger-Huet Anomaly |
|
PHA
|
Pelger-Huët Anomaly
|
|
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities
|
Pelger Huet Anomaly
|
|
Pelger-Huet Nuclear Anomaly
|
|
|
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
ADLD
|
Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy
|
|
Leukodystrophy, Adult-Onset, Autosomal Dominant
|
Adult-Onset Autosomal Dominant Leukodystrophy
|
|
Autosomal Dominant Leukodystrophy With Autonomic Disease
|
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
|
|
Multiple Sclerosis-Like Disorder
|
Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type, Formerly
|
|
Autosomal-Dominant Or Late-Onset Type Pelizaeus-Merzbacher Disease
|
Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type
|
|
Adult-Onset Autosomal Dominant Leukodystrophy With Autonomic Symptoms
|
Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy
|
|
Leukodystrophy, Demyelinating, Autosomal Dominant, Adult-Onset
|
Pelizaeus-Merzbacher Disease Autosomal Dominant
|
|
Pelizaeus-Merzbacher Disease Late-Onset Type
|
Adult Onset Autosomal Dominant Leukodystrophy
|
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Arrhythmogenic Right Ventricular Dysplasia 5
|
ARVD5
|
|
Arrhythmogenic Right Ventricular Cardiomyopathy 5
|
Arvc5
|
|
Familial Arrhythmogenic Right Ventricular Dysplasia 5
|
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5
|
|
|
| Cardiomyopathy, Dilated, 1h |
|
Dilated Cardiomyopathy 1h
|
Dilated Cardiomyopathy With Conduction Defect
|
|
CMD1H
|
Cardiomyopathy, Dilated, With Conduction Defect
|
|
|
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Severe Congenital Encephalopathy Due To Mecp2 Mutation
|
Severe Neonatal-Onset Encephalopathy With Microcephaly
|
|
Encephalopathy, Neonatal Severe
|
Neonatal Severe Encephalopathy Due To Mecp2 Mutations
|
|
Mecp2-Related Severe Neonatal Encephalopathy
|
Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy
|
|
Severe Neonatal Encephalopathy Due To Mecp2 Mutations
|
ENS-MECP2
|
|
Encephalopathy, Neonatal, Severe
|
|
|
| Melorheostosis |
|
Candle Wax Disease
|
Flowing Hyperostosis
|
|
Hyperostosis, Monomelic
|
Leri Syndrome
|
|
Leri'S Disease
|
Melorheostoses
|
|
Melorheostosis Of Leri
|
Melorheostosis, Isolated
|
|
Periostitis
|
Monomelic
|
|
Rheostosis
|
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| 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
|
|
|
| First-Degree Atrioventricular Block |
|
First Degree Atrioventricular Block
|
First Degree Heart Block
|
|
Incomplete Atrioventricular Block, First Degree
|
First Degree Atrioventricular Heart Block
|
|
|
| Muscle Tissue Disease |
|
|
| Akinetopsia |
|
|
| Acute Diarrhea |
|
|
| Cardiomyopathy, Dilated, 1a |
|
Dilated Cardiomyopathy 1a
|
Cdcd1
|
|
CMD1A
|
Cardiomyopathy, Familial Idiopathic
|
|
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
|
Cardiomyopathy, Dilated, With Conduction Defect 1
|
|
Cardiomyopathy, Idiopathic Dilated
|
Cardiomyopathy, Congestive
|
|
Dilated Cardiomyopathy With Conduction Defect 1
|
Cardiomyopathy Dilated With Conduction Defect Type 1
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Cardiomyopathy, Dilated 1a
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Cardiomyopathy Dilated With Conduction Defect 1
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Cardiomyopathy, Dilated, Type 1a
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| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
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MDC1A
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Lama2-Related Muscular Dystrophy
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Atrophie Blanche
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Muscular Dystrophy, Congenital Merosin-Deficient
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Congenital Merosin-Deficient Muscular Dystrophy 1a
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Merosin-Negative Congenital Muscular Dystrophy
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Muscular Dystrophy White Matter Spongiosis
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Merosin Deficient Congenital Muscular Dystrophy
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Muscular Dystrophy Congenital, Merosin Negative
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Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
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Cmd1a
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Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
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Congenital Muscular Dystrophy Type 1a
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Laminin Alpha-2 Deficiency
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Merosin-Deficient Congenital Muscular Dystrophy
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Muscular Dystrophy, Congenital, Merosin-Deficient
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Lama2 Md
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Laminin Alpha 2 Deficiency
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Laminin Alpha-2 Deficient Muscular Dystrophy
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Merosin-Deficient Muscular Dystrophy
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Muscular Dystrophy Due To Lama2 Deficiency
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Merosin-Deficient Congenital Muscular Dystrophy 1a
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Cardiomyopathy, Familial Idiopathic
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| Muscular Disease |
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| Rigid Spine Muscular Dystrophy 1 |
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Rigid Spine Syndrome
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RSMD1
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Rss
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Mdrs1
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Eichsfeld Type Congenital Muscular Dystrophy
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Desmin-Related Myopathy With Mallory Bodies
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Classic Multiminicore Myopathy
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Sepn1-Related Myopathy
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Multicore Myopathy, Severe Classic Form
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Minicore Myopathy, Severe Classic Form
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Multiminicore Disease, Severe Classic Form
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Muscular Dystrophy, Rigid Spine, 1
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Classic Mmd
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Classic Multiminicore Disease
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Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity
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Desmin-Related Myopathy With Mallory Body-Like Inclusions
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Early-Onset Desmin-Related Myopathy
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Myopathy, Sepn1-Related
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Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity
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Muscular Dystrophy, Congenital, Eichsfeld Type
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Severe Classic Form Minicore Myopathy
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Severe Classic Form Multicore Myopathy
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Severe Classic Form Multiminicore Disease
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Desmin-Related Myopathies With Mallory Bodies
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Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity
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Rigid Spine Muscular Dystrophy-1
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Rigid Spine Congenital Muscular Dystrophy
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Congenital Muscular Dystrophy Eichsfeld Type
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Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity
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Minicore Myopathy Severe Classic Form
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Multicore Myopathy Severe Classic Form
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Multiminicore Disease Severe Classic Form
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Dystrophy, Muscular, Rigid Spine, Type 1
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| Spinocerebellar Ataxia, Autosomal Recessive 8 |
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Arca1
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Autosomal Recessive Cerebellar Ataxia Type 1
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SCAR8
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Autosomal Recessive Spinocerebellar Ataxia 8
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Autosomal Recessive Ataxia, Beauce Type
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Recessive Ataxia Of Beauce
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Syne1-Related Autosomal Recessive Cerebellar Ataxia
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Ataxia, Recessive, Of Beauce
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Cerebellar Ataxia, Autosomal Recessive, Type 1
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Spinocerebellar Ataxia Autosomal Recessive 8
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Autosomal Recessive Ataxia Beauce Type
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Spinocerebellar Ataxia, Autosomal Recessive, 8
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Ataxia Recessive Of Beauce
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Ataxia, Spinocerebellar, Autosomal Recessive, Type 8
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| Bethlem Myopathy 1 |
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Bethlem Myopathy
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Myopathy, Benign Congenital, With Contractures
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Muscular Dystrophy, Benign Congenital
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BTHLM1
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Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
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Lgmdd5
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Benign Congenital Muscular Dystrophy
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Benign Autosomal Dominant Myopathy
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Myopathy, Bethlem
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Myopathy, Bethlem, Type 1
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
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Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
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| Congenital Fiber-Type Disproportion |
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Congenital Fiber Type Disproportion
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Cftdm
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Congenital Myopathy With Fiber Type Disproportion
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Cftd
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Congenital Fiber-Type Disproportion Myopathy
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Fiber-Type Disproportion Myopathy, Congenital
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Myopathy, Congenital With Fiber-Type Disproportion
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| Ullrich Congenital Muscular Dystrophy 1 |
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Ullrich Congenital Muscular Dystrophy
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Ullrich Disease
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Ucmd
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Ullrich Scleroatonic Muscular Dystrophy
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Scleroatonic Muscular Dystrophy
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UCMD1
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Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
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Lgmdr22
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Muscular Dystrophy, Scleroatonic
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Late Onset Scleroatonic Familial Myopathy
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Congenital Muscular Dystrophy, Ullrich Type
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| Myofibrillar Myopathy |
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Desmin Related Myopathy
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Myotilinopathy
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Myopathy, Myofibrillar
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Alpha Beta Crystallinopathy
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Desmin Storage Myopathy
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Desminopathy
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Filaminopathy
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Protein Surplus Myopathy
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Zaspopathy
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Myofibrillar Myopathies
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Myopathy, Myofibrillar, Desmin-Related
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Myopathy, Desmin Storage
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Mfm - [Myofibrillar Myopathy]
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| Walker-Warburg Syndrome |
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Hard Syndrome
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Walker-Warburg Congenital Muscular Dystrophy
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Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
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Cod-Md Syndrome
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Chemke Syndrome
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Hydrocephalus, Agyria And Retinal Dysplasia
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Cerebroocular Dysgenesis
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Cerebroocular Dysplasia Muscular Dystrophy Syndrome
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Hard +/- E Syndrome
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Pagon Syndrome
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Warburg Syndrome
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Hydrocephalus, Agyria, And Retinal Dysplasia
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Mddga
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Muscular Dystrophy-Dystroglycanopathy , Type A
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Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
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Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
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Wws
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Dystrophy, Muscular, Dystroglycanopathy, Type A
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| Charcot-Marie-Tooth Disease |
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Cmt
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Hmsn
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Hereditary Motor And Sensory Neuropathy
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Pma
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Cmt - Charcot-Marie-Tooth Disease
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Charcot Marie Tooth Disease
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Charcot-Marie-Tooth Hereditary Neuropathy
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Charcot-Marie-Tooth Syndrome
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Peroneal Muscular Atrophy
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Hereditary Motor And Sensory Neuropathies
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