| 疾病名称 |
别名 |
|
| Spinal Muscular Atrophy, Type I |
|
Werdnig-Hoffmann Disease
|
SMA1
|
|
Spinal Muscular Atrophy 1
|
Sma I
|
|
Sma, Infantile Acute Form
|
Muscular Atrophy, Infantile
|
|
Spinal Muscular Atrophy-1
|
Hmn Proximal Type I
|
|
Infantile Muscular Atrophy
|
Proximal Spinal Muscular Atrophy Type 1
|
|
Sma Type 1
|
Sma Type I
|
|
Sma-I
|
Hereditary Motor Neuropathy Proximal Type I
|
|
Progressive Muscular Atrophy Of Infancy
|
Proximal Spinal Muscular Atrophy, Type 1
|
|
Werdnig Hoffmann Disease
|
Infantile Spinal Muscular Atrophy
|
|
Infantile-Onset Spinal Muscular Atrophy
|
Proximal Hereditary Motor Neuropathy Type I
|
|
Sma Infantile Acute Form
|
Spinal Muscular Atrophy Type I
|
|
Werdnig-Hoffman Disease
|
Atrophy, Muscular, Spinal, Type 1
|
|
|
| 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
|
|
|
| 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
|
|
|
| Spinal Muscular Atrophy, Type Iv |
|
SMA4
|
Spinal Muscular Atrophy, Adult Form
|
|
Spinal Muscular Atrophy 4
|
Spinal Muscular Atrophy-4
|
|
Adult Spinal Muscular Atrophy
|
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
|
|
Proximal Spinal Muscular Atrophy Type 4
|
Sma Type 4
|
|
Sma Type Iv
|
Sma-Iv
|
|
Sma Iv
|
Spinal Muscular Atrophy Adult Form
|
|
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive
|
Spinal Muscular Atrophy Type Iv
|
|
Atrophy, Muscular, Spinal, Type Iv
|
Myelopathic Muscular Atrophy
|
|
|
| Spinal Muscular Atrophy |
|
Sma
|
5q Sma
|
|
Proximal Sma
|
Sma-Associated Sma
|
|
Spinal Amyotrophies
|
Spinal Amyotrophy
|
|
Spinal Muscle Degeneration
|
Spinal Muscle Wasting
|
|
Muscular Atrophy Spinal
|
Atrophy, Muscular, Spinal
|
|
Hereditary Motor Neuronopathy
|
Progressive Muscular Atrophy
|
|
Sma - [Spinal Muscular Atrophy]
|
|
|
| Muscular Atrophy |
|
Muscle Wasting
|
Amyotrophia
|
|
Wasting - Muscle
|
Skeletal Muscle Atrophy
|
|
|
| Spinal Disease |
|
Spinal Disorder
|
Spinal Diseases
|
|
|
| Progressive Muscular Atrophy |
|
Progressive Spinal Muscular Atrophy
|
Pure Progressive Muscular Atrophy
|
|
Pma
|
Hereditary Spinal Muscle Atrophy
|
|
Pma - [Progressive Muscular Atrophy]
|
Progressive Muscle Atrophy
|
|
Progressive Spinal Muscle Atrophy
|
Duchenne-Aran Atrophy
|
|
Duchenne-Aran Muscle Atrophy
|
Hereditary Sma - [Spinal Muscle Atrophy]
|
|
|
| Anterior Horn Cell Disease |
|
|
| Motor Neuron Disease |
|
Anterior Horn Cell Disease
|
Motor Neuron Diseases
|
|
Mnd - [Motor Neurone Disease]
|
Lou Gehrig Disease
|
|
Creeping Palsy
|
Creeping Paralysis
|
|
Bulbar Motor Neuron Disease
|
Bulbar Syndrome
|
|
Anterior Horn Cell Disorder
|
Hereditary Motor Neuron Disease
|
|
|
| Childhood Spinal Muscular Atrophy |
|
Spinal Muscular Atrophies Of Childhood
|
Survival Motor Neuron Spinal Muscular Atrophy
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Gm2 Gangliosidosis |
|
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Smard1
|
DSMA1
|
|
Sianrf
|
Dhmn6
|
|
Spinal Muscular Atrophy With Respiratory Distress 1
|
HMN6
|
|
Severe Infantile Axonal Neuropathy With Respiratory Failure
|
Autosomal Recessive Distal Spinal Muscular Atrophy 1
|
|
Diaphragmatic Spinal Muscular Atrophy
|
Spinal Muscular Atrophy With Respiratory Distress Type 1
|
|
Neuronopathy, Distal Hereditary Motor, Type Vi
|
Hmn Vi
|
|
Neuronopathy, Severe Infantile Axonal, With Respiratory Failure
|
Distal Spinal Muscular Atrophy 1
|
|
Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress
|
Distal Hereditary Motor Neuropathy Type 6
|
|
Distal-Hmn Type 6
|
Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1
|
|
Spinal Muscular Atrophy, Diaphragmatic
|
Distal Hereditary Motor Neuronopathy Type Vi
|
|
Distal Spinal Muscular Atrophy Type 1
|
Hmnvi
|
|
Spinal Muscular Atrophy With Respiratory Distress
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 1
|
|
Neuronopathy, Distal Hereditary Motor, 6
|
Dhmn Vi
|
|
Distal Hereditary Motor Neuropathy Type Vi
|
Severe Infantile Axonal Neuronopathy With Respiratory Failure
|
|
Spinal Muscular Atrophy Distal Autosomal Recessive 1
|
Atrophy, Muscular, Spinal, Distal, Type 1
|
|
|
| Spinal Muscular Atrophy Type 0 |
|
Very Severe Spinal Muscular Atrophy
|
|
|
| Autosomal Recessive Distal Hereditary Motor Neuronopathy |
|
Autosomal Recessive Distal Spinal Muscular Atrophy
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
CLN7
|
Neuronal Ceroid Lipofuscinosis 7
|
|
Cln7 Disease
|
Cln7 Disease, Late Infantile
|
|
Mfsd8-Related Neuronal Ceroid Lipofuscinosis
|
Turkish Variant Late Infantile Ncl
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 7
|
|
|
| Muscle Tissue Disease |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Spinal Muscular Atrophy, X-Linked 2 |
|
SMAX2
|
Arthrogryposis Multiplex Congenita, Distal, X-Linked
|
|
Infantile-Onset X-Linked Spinal Muscular Atrophy
|
Xlsma
|
|
Amcx1
|
Spinal Muscular Atrophy, X-Linked Lethal Infantile
|
|
Spinal Muscular Atrophy, Infantile X-Linked
|
Amc, Distal, X-Linked
|
|
Spinal Muscular Atrophy, X-Linked 2, Infantile
|
X-Linked Spinal Muscular Atrophy 2
|
|
Spinal Muscular Atrophy With Arthrogryposis
|
X-Linked Distal Arthrogryposis Multiplex Congenita
|
|
X-Linked Spinal Muscular Atrophy Type 2
|
Xl-Sma
|
|
Arthrogryposis, X-Linked, Type I
|
Spinal Muscular Atrophy, X-Linked Infantile
|
|
X-Linked Infantile Spinal Muscular Atrophy
|
Arthrogryposis, X-Lined, Type I
|
|
Distal X-Linked Amc
|
Infantile X-Linked Sma
|
|
X-Linked Arthrogryposis Multiplex Congenita
|
X-Linked Arthrogryposis Type I
|
|
X-Linked Lethal Infantile Sma
|
Arthrogryposis Spinal Muscular Atrophy
|
|
Spinal Muscular Atrophy X-Linked 2
|
Amc Distal X-Linked
|
|
Arthrogryposis Multiplex Congenita Distal X-Linked
|
Arthrogryposis X-Linked Type I
|
|
Spinal Muscular Atrophy Infantile X-Linked
|
Spinal Muscular Atrophy X-Linked Lethal Infantile
|
|
Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile
|
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Jankovic-Rivera Syndrome
|
SMAPME
|
|
Sma-Pme
|
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
|
|
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome
|
Hereditary Myoclonus With Progressive Distal Muscular Atrophy
|
|
Jankovic Rivera Syndrome
|
Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy
|
|
Myoclonus Hereditary Progressive Distal Muscular Atrophy
|
Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
|
|
|
| Dubowitz Syndrome |
|
Dubowitz'S Syndrome
|
Dwarfism-Eczema-Peculiar Facies Syndrome
|
|
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
|
|
|
| Muscular Disease |
|
|
| 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
|
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Familial Dysautonomia
|
Riley-Day Syndrome
|
|
Dysautonomia, Familial
|
HSAN3
|
|
Hsan Iii
|
Fd
|
|
Hereditary Sensory And Autonomic Neuropathy Type Iii
|
Dys
|
|
Hereditary Sensory And Autonomic Neuropathy 3
|
Riley Day Syndrome
|
|
Familial Autonomic Nervous Dysfunction
|
Hereditary Sensory Autonomic Neuropathy Type Iii
|
|
Hsan 3
|
Hsn 3
|
|
Hereditary Sensory Neuropathy Type 3
|
Hsan Type Iii
|
|
Hsn-Iii
|
Hereditary Sensory And Autonomic Neuropathy Type 3
|
|
Neuropathy, Hereditary Sensory And Autonomic, 3
|
Hsn Iii
|
|
Dysautonomia Familial
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Iii
|
|
Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
Dsmav
|
Distal Hereditary Motor Neuropathy Type V
|
|
Young Adult-Onset Distal Hereditary Motor Neuropathy
|
Neuronopathy, Distal Hereditary Motor, Type V
|
|
Distal Hereditary Motor Neuronopathy Type 5
|
Dhmn5
|
|
Distal Spinal Muscular Atrophy Type 5
|
HMN5A
|
|
Hmn5
|
Dhmn5a
|
|
Dhmn Va
|
Dsmava
|
|
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
|
Distal Hmn V
|
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
|
Dsma5
|
|
Young Adult-Onset Dhmn
|
Dhmn-V
|
|
Hmn V
|
Neuronopathy, Distal Hereditary Motor, Type 5a
|
|
Hmn 5a
|
Neuropathy, Distal Hereditary Motor, Type Va
|
|
Spinal Muscular Atrophy, Distal, Type Va
|
Spinal Muscular Atrophy, Distal, Type V
|
|
Distal Spinal Muscular Atrophy Type V
|
Distal Spinal Muscular Atrophy With Upper Limb Predominance
|
|
Distal Hereditary Motor Neuronopathy Type 5a
|
Distal Hmn Va
|
|
Distal Spinal Muscular Atrophy Type Va
|
Distal Hereditary Motor Neuropathy, Type V
|
|
Distal Hereditary Motor Neuronopathy, Type V
|
Distal Spinal Muscular Atrophy, Type V
|
|
Spinal Muscular Atrophy, Distal Type V
|
Distal Hereditary Motor Neuropathy Type 5
|
|
Neuronopathy, Distal Hereditary Motor, 5a
|
Dhmn V
|
|
Distal Hereditary Motor Neuronopathy Type Va
|
Distal Hereditary Motor Neuropathy Type Va
|
|
Dsma-V
|
Hmn Va
|
|
Spinal Muscular Atrophy Distal Type V
|
Spinal Muscular Atrophy Distal Type Va
|
|
Spinal Muscular Atrophy Distal With Upper Limb Predominance
|
Neuropathy, Distal Hereditary Motor, Type V
|
|
Neuropathy, Motor, Distal, Hereditary, Type Va
|
|
|
| 46,Xy Sex Reversal 1 |
|
SRXY1
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
|
46,Xy Sex Reversal, Sry-Related
|
Swyer Syndrome
|
|
46xy Sex Reversal 1
|
46,Xy Gonadal Dysgenesis Complete Sry-Related
|
|
46,Xy Sex Reversal Sry-Related
|
46,Xy True Hermaphroditism Sry-Related
|
|
Gonadal Dysgenesis Xy Female Type
|
Xy Females
|
|
46,Xy True Hermaphroditism, Sry-Related
|
Gonadal Dysgenesis, 46,Xy
|
|
46, Xy Female
|
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Kennedy Disease
|
Sbma
|
|
Spinal And Bulbar Muscular Atrophy
|
Kennedy'S Disease
|
|
X-Linked Spinal And Bulbar Muscular Atrophy
|
SMAX1
|
|
Kd
|
Kennedy Spinal And Bulbar Muscular Atrophy
|
|
Spinobulbar Muscular Atrophy
|
Bulbospinal Muscular Atrophy, X-Linked
|
|
Bulbospinal Neuronopathy, X-Linked Recessive
|
Xbsn
|
|
Spinal And Bulbar Muscular Atrophy Of Kennedy
|
Bulbospinal Muscular Atrophy
|
|
X-Linked Bulbospinal Amyotrophy
|
Bulbo-Spinal Atrophy, X-Linked
|
|
Spinal Bulbar Muscular Atrophy
|
X-Linked Bulbo-Spinal Atrophy
|
|
X-Linked Spinal Bulbar Muscular Atrophy
|
X-Linked Bsma
|
|
X-Linked Bulbospinal Muscular Atrophy
|
Spinal And Bulbar Muscular Atrophy X-Linked 1
|
|
Bulbospinal Muscular Atrophy X-Linked
|
Bulbospinal Neuronopathy X-Linked Recessive
|
|
Kennedy Disease)
|
Kennedy Syndrome
|
|
Atrophy, Muscular, Spinal And Bulbar, Kennedy Type
|
Atrophy, Muscular, Spinobulbar
|
|
Bulbospinal Neuronopathy
|
|
|
| Myotonic Dystrophy 1 |
|
Myotonic Dystrophy
|
Dystrophia Myotonica
|
|
Steinert Disease
|
Myotonic Dystrophy Type 1
|
|
Myotonia Atrophica
|
DM1
|
|
Congenital Myotonic Dystrophy
|
Myotonia Dystrophica
|
|
Steinert Myotonic Dystrophy
|
Dystrophia Myotonica 1
|
|
Dm
|
Steinert'S Disease
|
|
Steinert Myotonic Dystrophy Syndrome
|
Myotonic Dystrophy Of Steinert
|
|
Dystrophia Myotonica Type 1
|
Myotonic Dystrophy Congenital
|
|
Dystrophy, Myotonic, Type 1
|
Dm - [Dystrophia Myotonica]
|
|
Myotonic Muscular Dystrophy
|
|
|
| Cardiomyopathy, Dilated, 2a |
|
Dilated Cardiomyopathy 2a
|
CMD2A
|
|
Cardiomyopathy, Dilated, Autosomal Recessive
|
Cardiomyopathy, Congestive, Autosomal Recessive
|
|
Cardiomyopathy, Dilated 2a
|
Cardiomyopathy, Dilated, Type 2a
|
|
Autosomal Recessive Dilated Cardiomyopathy
|
|
|
| Cytomegalovirus Retinitis |
|
|
| Cardiomyopathy, Dilated, 1ff |
|
Dilated Cardiomyopathy 1ff
|
CMD1FF
|
|
Cardiomyopathy, Dilated 1ff
|
Cardiomyopathy, Dilated, Type 1ff
|
|
|
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Transthyretin Amyloidosis
|
Familial Amyloid Polyneuropathy
|
|
Ttr Amyloid Neuropathy
|
Transthyretin Amyloid Neuropathy
|
|
Transthyretin Amyloid Polyneuropathy
|
Fap
|
|
Familial Transthyretin Amyloidosis
|
Amyloidosis Transthyretin Related
|
|
Type I Familial Amyloid Polyneuropathy
|
Familial Amyloid Polyneuropathy Type I
|
|
Attrv122i Amyloidosis
|
Hereditary Amyloidosis, Transthyretin-Related
|
|
Amyloid Polyneuropathy, Familial
|
Attr Amyloidosis
|
|
Attrm Amyloidosis
|
Corino De Andrade'S Disease
|
|
Paramyloidosis
|
Transthyretin-Related Hereditary Amyloidosis
|
|
Ttr Amyloidosis
|
Hereditary Attr Amyloidosis
|
|
Portuguese Polyneuritic Amyloidosis
|
Portuguese Type Familial Amyloid Neuropathy
|
|
Swiss Type Amyloid Polyneuropathy
|
Type Ii Familial Amyloid Polyneuropathy
|
|
Attrv30m Amyloidosis
|
Attrv30m-Related Amyloidosis
|
|
Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type
|
Attr Cardiomyopathy
|
|
Attrv122i-Related Amyloidosis
|
Ttr-Related Amyloid Cardiomyopathy
|
|
Ttr-Related Cardiac Amyloidosis
|
Transthyretin Amyloid Cardiopathy
|
|
Transthyretin-Related Familial Amyloid Cardiomyopathy
|
Amyloidosis, Transthyretin-Related
|
|
AMYL-TTR
|
Amyloidosis I
|
|
Amyloidosis Ohio Type
|
Amyloidosis Type 7
|
|
Amyloidosis Vii
|
Amyloid Polyneuropathy
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Attr
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Familial Amyloid Polyneuropathy Type Ii
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Hereditary Amyloidosis Transthyretin-Related
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Leptomeningeal Amyloidosis
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Meningocerebrovascular Amyloidosis
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Oculoleptomeningeal Amyloidosis
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Familial Amyloid Polyneuropathies
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Amyloidosis, Leptomeningeal
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Senile Cardiac Amyloidosis
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Amyloid Neuropathies, Familial
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Danish Type Familial Amyloid Cardiomyopathy
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Familial Amyloid Neuropathy, Portuguese Type
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Amyloid Polyneuropathy, Swiss Type
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Hereditary Oculoleptomeningeal Amyloid Angiopathy
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Amyloid Neuropathies
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| Bone Structure Disease |
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| Lethal Congenital Contracture Syndrome 4 |
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LCCS4
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Contracture Syndrome, Lethal, Congenital, Type 4
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| Tay-Sachs Disease |
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Hexosaminidase A Deficiency
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TSD
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Hexa Deficiency
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Gm2 Gangliosidosis, Type 1
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Hexosaminidase Alpha-Subunit Deficiency
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Gm2-Gangliosidosis, Several Forms
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Gm2-Gangliosidosis, B, B1, Ab Variant
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B Variant Gm2 Gangliosidosis
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Sphingolipidosis, Tay-Sachs
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Gm2-Gangliosidosis, Type I
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B Variant Gm2-Gangliosidosis
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Hex A Pseudodeficiency
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Hexa Disorders
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Beta-Hexosaminidase A Deficiency
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Gm2 Gangliosidosis, Type I
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Gangliosidosis Gm2 , Type 1
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Gm2 Gangliosidosis, B, B1 Variant
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Gm2-Gangliosidosis 1
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GM2G1
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Gm2-Gangliosidosis B Variant
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Tay-Sachs Disease Pseudo-Ab Variant
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Tay-Sachs Disease Variant B1
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Gangliosidoses, Gm2
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| Pontocerebellar Hypoplasia |
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Pch
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Congenital Pontocerebellar Hypoplasia
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Opch
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Hypoplasia, Pontocerebellar
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Pontoneocerebellar Hypoplasia
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Nonsyndromic Pontocerebellar Hypoplasia
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| Myopathy |
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Muscular Diseases
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Myopathies
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| Peripheral Nervous System Disease |
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Peripheral Neuropathy
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Peripheral Nerve Disease
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Peripheral Nerve Disorders
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Neuropathy, Peripheral
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Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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| Congenital Myasthenic Syndrome |
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Congenital Myasthenia
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Congenital Myasthenic Syndromes
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Cms
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Myasthenic Syndromes, Congenital
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Myasthenic Syndromes Congenital
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Myasthenic Syndrome, Congenital
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Congenital Myasthenic Syndrome Ib
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Congenital And Developmental Myasthenia
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Developmental Myasthenia
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| Neuronal Ceroid Lipofuscinosis |
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Hereditary Ceroid Lipofuscinosis
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Batten Disease
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Ncl
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Neuronal Ceroid-Lipofuscinoses
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Lipofuscinosis, Ceroid, Neuronal
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Juvenile Neuronal Ceroid Lipofuscinosis
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Cerebromacular Dystrophy
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Cerebromacular Degeneration
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Ceroid-Lipofuscinosis
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Ncl - [Neuronal Ceroid Lipofuscinosis]
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Amaurotic Familial Idiocy
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Amaurotic Idiocy
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Amaurotic Idiot
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Neuronal Lipofuscinosis
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Pigmentary Retinal Lipoid Neuronal Heredodegeneration
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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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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
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Nervous System Disorder
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| Hereditary Spastic Paraplegia |
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Familial Spastic Paraplegia
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Hereditary Spastic Paraparesis
|
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Strumpell-Lorrain Disease
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Familial Spastic Paraparesis
|
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Hsp
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Spg
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Strümpell-Lorrain Disease
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Spastic Paraplegia, Hereditary
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French Settlement Disease
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Strumpell-Lorrain Syndrome
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Fsp
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Spastic Paraplegia, Familial
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Spastic Paraplegia Hereditary
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Spastic Paraplegia 3, Autosomal Dominant
|
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Spastic Paraparesis
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Hereditary Spastic Paralysis
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Familial Spastic Paralysis
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Hereditary Spastic Ataxia
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|
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| Leber Plus Disease |
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Leber Congenital Amaurosis
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Lca
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Leber'S Amaurosis
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Leber'S Disease
|
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Amaurosis Congenita Of Leber
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Amaurosis Congenita Of Leber, Type 1
|
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Lhon Plus Disease
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Congenital Absence Of The Rods And Cones
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Congenital Retinal Blindness
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Crb
|
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Congenital Amaurosis Of Retinal Origin
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Leber'S Congenital Amaurosis
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Leber Congenital Amaurosis 1
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Leber'S Congenital Tapetoretinal Degeneration
|
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Leber'S Congenital Tapetoretinal Dysplasia
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Lca1
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Leber Congenital Amaurosis Type 1
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Retinal Blindness, Congenital
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Amaurosis, Leber Congenital
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Dysgenesis Neuroepithelialis Retinae
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Hereditary Epithelial Dysplasia Of Retina
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Hereditary Retinal Aplasia
|
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Heredoretinopathia Congenitalis
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Leber Abiotrophy
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Leber Congenital Tapetoretinal Degeneration
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Lebers Congenital Amaurosis
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Optic Atrophy, Hereditary, Leber
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|
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| Fundus Dystrophy |
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Retinal Dystrophy
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Retinal Dystrophies
|
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Dystrophy, Retinal
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| Retinitis Pigmentosa |
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RP
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Rod-Cone Dystrophy
|
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
|
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Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
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Tapetoretinal Degeneration
|
Rcd
|
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
|
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