| Diseases |
Alias |
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2d |
|
Charcot-Marie-Tooth Disease Type 2d
|
CMT2D
|
|
Charcot-Marie-Tooth Disease, Type 2d
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2d
|
Charcot-Marie-Tooth Neuropathy Type 2d
|
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2d
|
Charcot-Marie-Tooth Neuropathy, Type 2d
|
|
Charcot-Marie-Tooth Disease 2d
|
Charcot-Marie-Tooth Disease Axonal Type 2d
|
|
|
| Spinal Muscular Atrophy, Infantile, James Type |
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Hyperekplexia |
|
Hereditary Hyperekplexia
|
Kok Disease
|
|
Congenital Stiff Man Syndrome
|
Familial Startle Disease
|
|
Sthe
|
Stiff-Baby Syndrome
|
|
Hereditary Hyperexplexia
|
Startle Disease
|
|
Exaggerated Startle Reaction
|
Hyperexplexia Hereditary
|
|
Startle Disease, Familial
|
Startle Reaction, Exaggerated
|
|
Stiff-Man Syndrome, Congenital
|
Stiff-Person Syndrome, Congenital
|
|
Congenital Stiff-Man Syndrome
|
Congenital Stiff-Person Syndrome
|
|
Familial Hyperekplexia
|
Startle Syndrome
|
|
Stiff Baby Syndrome
|
Hyperekplexia, Hereditary
|
|
Stiff-Person Syndrome
|
|
|
| Motor Peripheral Neuropathy |
|
Motor Neuritis
|
Peripheral Motor Neuropathy
|
|
Hereditary Motor And Sensory Neuropathy
|
Hsmn
|
|
Hsmn - Hereditary Sensory And Motor Neuropathy
|
Neuropathic Muscular Atrophy
|
|
Hereditary Sensory And Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Polymyositis |
|
|
| Dermatomyositis |
|
Amyopathic Dermatomyositis
|
Dermatopolymyositis
|
|
Adult Dermatomyositis
|
Polymyositis With Skin Involvement
|
|
Adult Type Dermatomyositis
|
Petges-Clejat Syndrome
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Hereditary Neuropathy |
|
Distal Spinal Muscular Atrophy
|
Distal Hereditary Motor Neuropathy
|
|
Dhmn
|
Hereditary Motor/Sensory Neuropathy
|
|
Hmsn
|
Dsma
|
|
Distal Hereditary Motor Neuropathies
|
Spinal Muscular Atrophy Distal
|
|
Neuropathy, Motor, Distal, Hereditary
|
Charcot-Marie-Tooth Disease
|
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
CMTDIC
|
Charcot-Marie-Tooth Disease Dominant Intermediate C
|
|
Di-Cmtc
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
|
|
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C
|
Charcot-Marie-Tooth Neuropathy Dominant Intermediate C
|
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
|
|
|
| Myositis |
|
Idiopathic Inflammatory Myopathy
|
Idiopathic Inflammatory Myositis
|
|
Iim
|
Imm
|
|
Idiopathic Inflammatory Myopathies
|
Myopathy, Familial Idiopathic Inflammatory
|
|
Inflammatory Disorder Of Muscle
|
Idiopathic Inflammatory Myopathy, Familial
|
|
Inflammatory Myopathy, Idiopathic
|
Myopathies Idiopathic Inflammatory
|
|
Familial Idiopathic Inflammatory Myopathy
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2n |
|
Charcot-Marie-Tooth Disease Axonal Type 2n
|
CMT2N
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2n
|
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Disease 2n
|
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n
|
Charcot-Marie-Tooth Disease, Type 2n
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2l |
|
Charcot-Marie-Tooth Disease Axonal Type 2l
|
CMT2L
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l
|
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2l
|
Charcot-Marie-Tooth Disease 2l
|
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l
|
Charcot-Marie-Tooth Disease Neuronal Type 2l
|
|
Charcot-Marie-Tooth Neuropathy Type 2l
|
Charcot-Marie-Tooth Disease, Type 2l
|
|
Charcot-Marie-Tooth Disease, Type 2i
|
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Tooth Disease |
|
Tooth Diseases
|
Teeth Disease
|
|
Tooth Disorders
|
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
Charcot-Marie-Tooth Disease Type 1e
|
CMT1E
|
|
Charcot-Marie-Tooth Disease Type 1
|
Hereditary Motor And Sensory Neuropathy Type 1
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
Charcot-Marie-Tooth Disease, Type I
|
|
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
|
Charcot-Marie-Tooth Disease, Type 1e
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1e
|
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
|
|
Cmt1
|
Charcot-Marie-Tooth Neuropathy Type 1
|
|
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
|
Charcot-Marie-Tooth Disease-Deafness
|
|
Charcot-Marie-Tooth Type 1
|
Hmsn1
|
|
Hereditary Motor And Sensory Neuropathy 1
|
Cmt 1e
|
|
Charcot Marie Tooth Disease Type 1e
|
Charcot-Marie-Tooth Disease-Deafness Syndrome
|
|
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
|
Charcot-Marie-Tooth Disease 1e
|
|
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
|
Charcot-Marie-Tooth Neuropathy Type 1e
|
|
Charcot-Marie-Tooth Disease, Type Ie
|
Hereditary Motor And Sensory Neuropathy Type I
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2f |
|
Charcot-Marie-Tooth Disease Axonal Type 2f
|
CMT2F
|
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2f
|
Charcot-Marie-Tooth Neuropathy, Type 2f
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f
|
Charcot-Marie-Tooth Neuropathy Type 2f
|
|
Charcot-Marie-Tooth Neuronal Type 2f
|
Charcot-Marie-Tooth Disease Type 2f
|
|
Cmt 2f
|
Charcot Marie Tooth Disease Type 2f
|
|
Charcot-Marie-Tooth Disease 2f
|
Charcot-Marie-Tooth Disease Neuronal Type 2f
|
|
Charcot-Marie-Tooth Disease, Type 2f
|
|
|
| Charcot-Marie-Tooth Disease Intermediate Type |
|
Intermediate Charcot-Marie-Tooth Disease
|
Charcot-Marie-Tooth Disease Dominant Intermediate
|
|
Charcot-Marie-Tooth Disease Recessive Intermediate
|
Intermediate Cmt
|
|
Intermediate Hereditary Motor And Sensory Neuropathy
|
Charcot-Marie-Tooth Disease, Intermediate Type
|
|
Charcot-Marie-Tooth, Intermediate
|
|
|
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Charcot-Marie-Tooth Disease Recessive Intermediate B
|
CMTRIB
|
|
Ri-Cmtb
|
Charcot-Marie-Tooth Disease, Recessive Intermediate, B
|
|
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
|
Charcot-Marie-Tooth Neuropathy Recessive Intermediate B
|
|
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B
|
Ri-Cmt Type B
|
|
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2i |
|
CMT2I
|
Charcot-Marie-Tooth Disease, Type 2i
|
|
Charcot-Marie-Tooth Disease Type 2i
|
Charcot-Marie-Tooth Neuropathy Type 2i
|
|
Charcot-Marie-Tooth Neuropathy, Type 2i
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i
|
|
Charcot-Marie-Tooth Disease 2i
|
Charcot-Marie-Tooth Disease Axonal Type 2i
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2i
|
|
|
| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
Autosomal Dominant Distal Hereditary Motor Neuropathy
|
Autosomal Dominant Dhmn
|
|
Autosomal Dominant Distal Spinal Muscular Atrophy
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2u |
|
CMT2U
|
Charcot-Marie-Tooth Disease Axonal Type 2u
|
|
Charcot-Marie-Tooth Neuropathy, Type 2u
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u
|
|
Charcot-Marie-Tooth Neuropathy Type 2u
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation
|
|
Charcot-Marie-Tooth Disease 2u
|
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b |
|
Charcot-Marie-Tooth Disease Type 2b
|
CMT2B
|
|
Hmsn Iib
|
Hmsn2b
|
|
Charcot-Marie-Tooth Disease, Type 2b
|
Hereditary Motor And Sensory Neuropathy Iib
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b
|
Charcot-Marie-Tooth Neuropathy Type 2b
|
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b
|
Charcot-Marie-Tooth Neuropathy, Type 2b
|
|
Hereditary Motor And Sensory Nueropathy Iib
|
Cmt 2b
|
|
Charcot Marie Tooth Disease Type 2b
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b
|
|
Hereditary Motor And Sensory Neuropathy 2 B
|
Peripheral Sensory Neuropathy, Autosomal Dominant
|
|
Charcot-Marie-Tooth Disease 2b
|
Charcot-Marie-Tooth Disease Axonal Type 2b
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2b
|
Peripheral Sensory Neuropathy Autosomal Dominant
|
|
Psn
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2w |
|
CMT2W
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w
|
|
Charcot-Marie-Tooth Neuropathy, Type 2w
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2w
|
|
Charcot-Marie-Tooth Disease, Axonal Type 2w
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2w
|
|
Charcot-Marie-Tooth Neuropathy Type 2w
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Hars Mutation
|
|
Charcot-Marie-Tooth Disease 2w
|
|
|
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
CMT2C
|
Charcot-Marie-Tooth Disease Axonal Type 2c
|
|
HMSN2C
|
Hmsn Iic
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c
|
Charcot-Marie-Tooth Neuropathy Type 2c
|
|
Hereditary Motor And Sensory Neuropathy Type Iic
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c
|
|
Charcot-Marie-Tooth Neuropathy, Type 2c
|
Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c
|
|
Charcot-Marie-Tooth Disease 2c
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c
|
|
Charcot-Marie-Tooth Disease, Type 2c
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
|
CMT2A1
|
Charcot-Marie-Tooth Disease Type 2a1
|
|
Hereditary Motor And Sensory Neuropathy Iia1
|
Hmsn Iia1
|
|
Hmsn2a1
|
Charcot-Marie-Tooth Disease, Type 2a1
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2a1
|
Charcot-Marie-Tooth Neuropathy Type 2a1
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2a1
|
|
Charcot-Marie-Tooth Neuropathy, Type 2a1
|
Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
|
Charcot-Marie-Tooth Disease 2a1
|
|
Charcot-Marie-Tooth Disease Axonal Type 2a1
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
HMN2B
|
Hmn Iib
|
|
Neuropathy, Distal Hereditary Motor, Type Iib
|
Dhmn2b
|
|
Distal Hereditary Motor Neuropathy Type 2b
|
Distal Hereditary Motor Neuropathy Type Iib
|
|
Neuronopathy, Distal Hereditary Motor, Type 2b
|
Neuronopathy, Distal Hereditary Motor, 2b
|
|
Dhmn Ii
|
Neuropathy, Motor, Distal, Hereditary, Type 2b
|
|
|
| Autosomal Recessive Distal Hereditary Motor Neuronopathy |
|
Autosomal Recessive Distal Spinal Muscular Atrophy
|
|
|
| Scapuloperoneal Spinal Muscular Atrophy |
|
SPSMA
|
Amyotrophy, Neurogenic Scapuloperoneal, New England Type
|
|
Neurogenic Scapuloperoneal Amyotrophy, New England Type
|
Scapuloperoneal Neuronopathy
|
|
Spinal Muscular Atrophy, Scapuloperoneal
|
Amyotrophy Neurogenic Scapuloperoneal New England Type
|
|
Muscular Atrophy, Spinal
|
Scapuloperoneal Form Of Spinal Muscular Atrophy
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
|
Charcot-Marie-Tooth Disease Type 1b
|
CMT1B
|
|
Hereditary Motor And Sensory Neuropathy Ib
|
Hmsn Ib
|
|
Hmsn1b
|
Peroneal Muscular Atrophy
|
|
Charcot-Marie-Tooth Disease, Type 1b
|
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy
|
|
Charcot-Marie-Tooth Neuropathy Type 1b
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
Hereditary Motor And Sensory Neuropathy I
|
Hmsn I
|
|
Hmsn1
|
Charcot-Marie-Tooth Neuropathy, Type 1b
|
|
Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b
|
Charcot-Marie-Tooth Disease 1b
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1b
|
Hmsn Type I
|
|
Hereditary Motor And Sensory Neuropathy Type I
|
Charcot-Marie-Tooth Disease
|
|
|
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
CMTX1
|
Cmtx
|
|
Charcot-Marie-Tooth Disease X-Linked Dominant 1
|
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
|
|
X-Linked Charcot-Marie-Tooth Disease
|
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
|
|
Cmt1x
|
X-Linked Charcot-Marie-Tooth Disease Type 1
|
|
X-Linked Hereditary Motor And Sensory Neuropathy
|
Hereditary Motor And Sensory Neuropathy, X-Linked
|
|
Hmsn, X-Linked
|
Charcot-Marie-Tooth Neuropathy, X-Linked, 1
|
|
Cmt2, Formerly
|
Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
|
|
Charcot-Marie-Tooth Neuropathy X-Linked 1
|
Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
|
|
Hereditary Motor And Sensory Neuropathy X-Linked
|
Hmsn X-Linked
|
|
Charcot-Marie-Tooth, X-Linked
|
Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
|
|
Charcot-Marie-Tooth Disease, X-Linked, 1
|
|
|
| Usher Syndrome, Type Iiib |
|
Usher Syndrome Type 3b
|
USH3B
|
|
Usher Syndrome Type Iiib
|
Usher Syndrome 3b
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
|
Charcot-Marie-Tooth Disease Type 1d
|
CMT1D
|
|
Hmsn Id
|
Hmsn1d
|
|
Charcot-Marie-Tooth Disease, Type 1d
|
Hereditary Motor And Sensory Neuropathy 1d
|
|
Charcot-Marie-Tooth Neuropathy Type 1d
|
Charcot-Marie-Tooth Neuropathy, Type 1d
|
|
Charcot-Marie-Tooth Disease 1d
|
Charcot-Marie-Tooth Disease Demyelinating Type 1d
|
|
Hereditary Motor And Sensory Neuropathy Id
|
Charcot-Marie-Tooth Disease, Type Id
|
|
|
| Charcot-Marie-Tooth Disease Type X |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
|
Charcot-Marie-Tooth Disease Type 1a
|
CMT1A
|
|
Charcot-Marie-Tooth Disease, Type Ia
|
Hmsn1a
|
|
Hereditary Motor And Sensory Neuropathy Ia
|
Hmsn Ia
|
|
Charcot-Marie-Tooth Neuropathy, Type 1a
|
Charcot-Marie-Tooth Disease, Type 1a
|
|
Charcot-Marie-Tooth Neuropathy Type 1a
|
Hereditary Motor And Sensory Neuropathy 1a
|
|
Microduplication 17p12
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a
|
Cmt 1a
|
|
Charcot Marie Tooth Disease Type 1a
|
Hmsn 1a
|
|
Charcot-Marie-Tooth Disease 1a
|
Charcot-Marie-Tooth Disease Demyelinating Type 1a
|
|
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
|
|
|
| Charcot-Marie-Tooth Disease, Type 4a |
|
Charcot-Marie-Tooth Disease Type 4a
|
CMT4A
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a
|
Charcot-Marie-Tooth Neuropathy, Type 4a
|
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a
|
Charcot-Marie-Tooth Neuropathy Type 4a
|
|
Charcot-Marie-Tooth Disease 4a
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a
|
|
Charcot-Marie-Tooth Disease Neuropathy Type 4a
|
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
Silver Syndrome
|
SPG17
|
|
Silver Spastic Paraplegia Syndrome
|
Spastic Paraplegia With Amyotrophy Of Hands And Feet
|
|
Hereditary Spastic Paraplegia 17
|
Autosomal Dominant Spastic Paraplegia Type 17
|
|
Spastic Paraplegia 17
|
Spastic Paraplegia-Amyotrophy Of Hands And Feet
|
|
Autosomal Dominant Spastic Paraplegia 17
|
Dhmn5b
|
|
Distal Hereditary Motor Neuropathy Type 5b
|
Paraplegia, Spastic, Autosomal Dominant, Type 17
|
|
Russell-Silver Syndrome
|
Neuronopathy, Distal Hereditary Motor, Type Vb
|
|
|
| Pontocerebellar Hypoplasia, Type 6 |
|
Pontocerebellar Hypoplasia Type 6
|
PCH6
|
|
Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects
|
Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects
|
|
Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects
|
Pontocerebellar Hypoplasia 6
|
|
Hypoplasia, Pontocerebellar, Type 6
|
|
|
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Tomaculous Neuropathy
|
Hereditary Neuropathy With Liability To Pressure Palsies
|
|
HNPP
|
Polyneuropathy, Familial Recurrent
|
|
Neuropathy, Recurrent, With Pressure Palsies
|
Current Pressure-Sensitive Neuropathy
|
|
Familial Recurrent Polyneuropathy
|
Heterozygous Microdeletion 17p11.2p12
|
|
Potato-Grubbing Palsy
|
Tulip-Bulb Digger'S Palsy
|
|
Compression Neuropathy
|
Entrapment Neuropathy
|
|
Familial Pressure Sensitive Neuropathy
|
Hereditary Motor And Sensory Neuropathy
|
|
Hereditary Pressure Sensitive Neuropathy
|
Inherited Tendency To Pressure Palsies
|
|
Hereditary Liability To Pressure Palsies
|
Nerve Compression Syndrome
|
|
Entrapment Neuropathies
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
|
Charcot-Marie-Tooth Disease Type 2b2
|
CMT2B2
|
|
Arcmt2b
|
Charcot-Marie-Tooth Disease, Type 2b2
|
|
Ar-Cmt2b2
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
|
|
Autosomal Recessive Axonal Cmt4c3
|
Charcot-Marie-Tooth Disease Neuronal Type 2b2
|
|
Charcot-Marie-Tooth Neuropathy Type 2b2
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
|
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2
|
Charcot-Marie-Tooth Neuropathy, Type 2b2
|
|
Charcot-Marie-Tooth Disease 2b2
|
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
|
|
Charcot-Marie-Tooth Disease Axonal Type 2b2
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
|
Charcot-Marie-Tooth Disease Type 4f
|
CMT4F
|
|
Charcot-Marie-Tooth Disease, Type 4f
|
Charcot-Marie-Tooth Disease 4f
|
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
|
Dejerine-Sottas Disease
|
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
Charcot-Marie-Tooth Disease Type 4b2
|
CMT4B2
|
|
Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2
|
Charcot-Marie-Tooth Neuropathy, Type 4b2
|
|
Charcot-Marie-Tooth Neuropathy Type 4b2
|
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
|
|
Cmt 4b2
|
Charcot Marie Tooth Disease Type 4b2
|
|
Charcot-Marie-Tooth Disease 4b2
|
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
|
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
|
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Dejerine-Sottas Disease
|
Dejerine-Sottas Syndrome
|
|
Charcot-Marie-Tooth Disease Type 3
|
DSS
|
|
Hereditary Motor And Sensory Neuropathy Type Iii
|
Hmsn3
|
|
Dejerine-Sottas Neuropathy
|
Hmsn Iii
|
|
Charcot-Marie-Tooth Disease, Type 3
|
Cmt3
|
|
Dsn
|
Hmsn 3
|
|
Hereditary Motor And Sensory Neuropathy Type 3
|
Hereditary Motor And Sensory Neuropathy 3
|
|
Hypertrophic Neuropathy Of Infancy
|
Charcot-Marie-Tooth Disease Demyelinating Type 4f
|
|
Charcot-Marie-Tooth Disease Type 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
|
Cmt4f
|
Hereditary Motor And Sensory Neuropathy Iii
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
|
|
|
| Neuropathy, Hereditary Sensory, Type Ie |
|
HSN1E
|
Hsn Ie
|
|
Hereditary Sensory Neuropathy Type 1e
|
Hereditary Sensory Neuropathy Type Ie
|
|
Hsan 1
|
Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia
|
|
Hereditary Sensory Neuropathy Type 1
|
Hsn1
|
|
Hereditary Sensory And Autonomic Neuropathy Type 1
|
Neuropathy Hereditary Sensory And Autonomic Type 1
|
|
Neuropathy Hereditary Sensory Radicular, Autosomal Dominant
|
Neuropathy, Hereditary Sensory, 1e
|
|
Neuropathy Hereditary Sensory With Hearing Loss And Dementia
|
Neuropathy, Hereditary Sensory, Type I
|
|
Neuropathy, Sensory, Hereditary, Type Ie
|
Hereditary Sensory And Autonomic Neuropathy Type Ie
|
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
|
|
| Spinal Muscular Atrophy With Lower Extremity Predominant |
|
Spinal Muscular Atrophy With Lower Extremity Predominance
|
Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures
|
|
Kugelberg-Welander Syndrome, Autosomal Dominant
|
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures
|
|
Sma-Led
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant
|
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant
|
|
Spinal Muscular Atrophy, Lower Extremity, Dominant
|
|
|
| Cerebral Angioma |
|
Hemangioma Of Cerebrum
|
Cerebral Hemangioma
|
|
|
| Distal Hereditary Motor Neuronopathy Type 2 |
|
Distal Hereditary Motor Neuropathy, Type Ii
|
Distal Hereditary Motor Neuropathy Type 2
|
|
Distal Hereditary Motor Neuropathy Type Ii
|
Hmn Ii
|
|
Hmn2
|
Distal Hereditary Motor Neuronopathy, Type Ii
|
|
Distal Spinal Muscular Atrophy Type 2
|
Dhmn2
|
|
Dsma2
|
Neuropathy, Motor, Distal, Hereditary, Type Ii
|
|
Spinal Muscular Atrophy, Jerash Type
|
|
|
| Glycine Encephalopathy |
|
Non-Ketotic Hyperglycinemia
|
Nonketotic Hyperglycinemia
|
|
NKH
|
GCE
|
|
Hyperglycinemia, Nonketotic
|
Hyperglycinemia Nonketotic
|
|
Infantile Glycine Encephalopathy
|
Encephalopathy, Glycine
|
|
Glycine Synthase Deficiency
|
Nka
|
|
Neonatal Glycine Encephalopathy
|
Classic Glycine Encephalopathy
|
|
Neonatal Nkh
|
Neonatal Non-Ketotic Hyperglycinemia
|
|
Infantile Nkh
|
Infantile Non-Ketotic Hyperglycinemia
|
|
Non-Ketotic Hyperglycinaemia
|
Glycine Cleavage Deficiency
|
|
Nonketotic Hyperglycinaemia
|
|
|
| Perrault Syndrome |
|
Gonadal Dysgenesis, Xx Type, With Deafness
|
Ovarian Dysgenesis With Sensorineural Deafness
|
|
Gonadal Dysgenesis, Xx Type
|
Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
|
|
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
|
Xx Gonodal Dysgenesis-Deafness Syndrome
|
|
Xx Gonodal Dysgenesis-Hearing Loss Syndrome
|
Gonadal Dysgenesis Xx Type Deafness
|
|
|
| Scoliosis |
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Pontocerebellar Hypoplasia |
|
Pch
|
Congenital Pontocerebellar Hypoplasia
|
|
Opch
|
Hypoplasia, Pontocerebellar
|
|
Pontoneocerebellar Hypoplasia
|
Nonsyndromic Pontocerebellar Hypoplasia
|
|
|
| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
|
Hsp
|
Spg
|
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
|
Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| 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
|
|
|
| Spastic Ataxia |
|
|
| 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
|
|
|
