| Diseases |
Alias |
|
| 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 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 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
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type I |
|
Dhmn1
|
Hmn I
|
|
Distal Hereditary Motor Neuronopathy Type 1
|
Autosomal Dominant Distal Juvenile Spinal Muscular Atrophy Type 1
|
|
Neuronopathy, Distal Hereditary Motor, Type 1
|
HMN1
|
|
Neuropathy, Distal Hereditary Motor, Type I
|
Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I
|
|
Charcot-Marie-Tooth Disease, Spinal, I
|
Distal Hereditary Motor Neuropathy Type I
|
|
Spinal Charcot-Marie-Tooth Disease 1
|
Distal Hereditary Motor Neuropathy Type 1
|
|
Neuropathy, Motor, Distal, Hereditary, Type I
|
|
|
| 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]
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| 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
|
|
|
| Autosomal Recessive Distal Hereditary Motor Neuronopathy |
|
Autosomal Recessive Distal Spinal Muscular Atrophy
|
|
|
| Muscular Atrophy |
|
Muscle Wasting
|
Amyotrophia
|
|
Wasting - Muscle
|
Skeletal Muscle Atrophy
|
|
|
| Respiratory Failure |
|
Acute Respiratory Failure
|
Chronic Respiratory Failure
|
|
Respiratory Insufficiency
|
Acute-On-Chronic Respiratory Failure
|
|
Respiratory Disease
|
Acute And Chronic Respiratory Failure
|
|
Respiratory Insufficiency/Failure
|
Chronic Respiratory Disease
|
|
Pulmonary Valve Insufficiency
|
Chronic Disease Of Respiratory System
|
|
Respiration Disorders
|
Respiratory Tract Diseases
|
|
Lung Failure Nos
|
Pulmonary Failure
|
|
Arf - [Acute Respiratory Failure]
|
Acute Respiratory Insufficiency
|
|
Acute Pulmonary Insufficiency
|
Acute Respiration Failure
|
|
Chronic Respiration Failure
|
|
|
| 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
|
|
|
| Cardiomyopathy, Dilated, 1hh |
|
Dilated Cardiomyopathy 1hh
|
CMD1HH
|
|
Cardiomyopathy, Dilated 1hh
|
Cardiomyopathy, Dilated, Type 1hh
|
|
|
| Pontocerebellar Hypoplasia, Type 10 |
|
Pontocerebellar Hypoplasia Type 10
|
PCH10
|
|
Clp1-Related Pontocerebellar Hypoplasia
|
Pontocerebellar Hypoplasia 10
|
|
Hypoplasia, Pontocerebellar, Type 10
|
|
|
| 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
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease Type 2a2a |
|
Charcot-Marie-Tooth Disease, Type 2a2a
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2
|
|
Charcot-Marie-Tooth Neuronal Type 2a2
|
Charcot-Marie-Tooth Neuropathy Type 2a2
|
|
Cmt2a2a
|
Hereditary Motor And Sensory Neuropathy Iia2
|
|
Hmsn Iia2
|
Hmsn2a2
|
|
|
| Childhood Spinal Muscular Atrophy |
|
Spinal Muscular Atrophies Of Childhood
|
Survival Motor Neuron Spinal Muscular Atrophy
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2t |
|
CMT2T
|
Charcot-Marie-Tooth Disease Axonal Type 2t
|
|
Charcot-Marie-Tooth Neuropathy, Type 2t
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t
|
|
Ar-Cmt2t
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t
|
|
Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2
|
Charcot-Marie-Tooth Neuropathy Type 2t
|
|
Charcot-Marie-Tooth Disease Type 2t
|
Mme-Related Autosomal Dominant Cmt2
|
|
Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2
|
Charcot-Marie-Tooth Disease 2t
|
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2t
|
|
|
| Anterior Horn Cell Disease |
|
|
| Tooth Disease |
|
Tooth Diseases
|
Teeth Disease
|
|
Tooth Disorders
|
|
|
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic Lateral Sclerosis Type 4
|
ALS4
|
|
Amyotrophic Lateral Sclerosis 4
|
Dhmn With Upper Motor Neuron Signs
|
|
Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs
|
Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
|
|
Als 4
|
Distal Hereditary Motor Neuropathy With Pyramidal Features
|
|
Amyotrophic Lateral Sclerosis Juvenile 4
|
Neuronopathy Distal Hereditary Motor With Pyramidal Features
|
|
Sclerosis, Lateral, Amyotrophic, Type Type 4
|
|
|
| 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
|
|
|
| Diaphragmatic Eventration |
|
|
| 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, 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
|
|
|
| Neonatal Myasthenia Gravis |
|
Myasthenia Gravis, Neonatal
|
|
|
| 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
|
|
|
| Myopathy, Myofibrillar, 6 |
|
Myofibrillar Myopathy 6
|
MFM6
|
|
Myopathy, Myofibrillar, Bag3-Related
|
Bag3-Related Myofibrillar Myopathy
|
|
Muscular Dystrophy, Selcen Type
|
Mfm Bag3-Related
|
|
Muscular Dystrophy Selcen Type
|
Myopathy Myofibrillar Bag3-Related
|
|
|
| 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, Axonal, Type 2r |
|
Charcot-Marie-Tooth Disease Type 2r
|
CMT2R
|
|
Charcot-Marie-Tooth Neuropathy, Type 2r
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r
|
|
Charcot-Marie-Tooth Disease, Type 2r
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r
|
|
Charcot-Marie-Tooth Neuropathy Type 2r
|
Charcot-Marie-Tooth Disease 2r
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r
|
Charcot-Marie-Tooth Disease Axonal Type 2r
|
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2r
|
|
|
| Lethal Restrictive Dermopathy |
|
Hyperkeratosis-Contracture Syndrome
|
Tight Skin Contracture Syndrome
|
|
Tight Skin Contracture Syndrome, Lethal
|
Dermopathy, Restrictive, Lethal
|
|
|
| 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
|
|
|
| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
Autosomal Dominant Distal Hereditary Motor Neuropathy
|
Autosomal Dominant Dhmn
|
|
Autosomal Dominant Distal Spinal Muscular Atrophy
|
|
|
| Distal Hereditary Motor Neuronopathy Type 7 |
|
Dhmn7
|
Dhmnvpy
|
|
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
|
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
HSAN1A
|
Hsan Ia
|
|
Hsan1
|
Hsn Ia
|
|
Hereditary Sensory And Autonomic Neuropathy Type 1a
|
Neuropathy, Hereditary Sensory And Autonomic, Type 1a
|
|
Neuropathy, Hereditary Sensory, Type Ia
|
Hsn1a
|
|
Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a
|
Hereditary Sensory And Autonomic Neuropathy Type Ia
|
|
Neuropathy, Hereditary Sensory And Autonomic, 1a
|
Hereditary Sensory Neuropathy Type Ia
|
|
Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a
|
Hsn1
|
|
Neuropathy, Sensory And Autonomic, Hereditary, Type 1a
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
|
|
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
EMARDD
|
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant
|
|
Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome
|
Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia
|
|
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
|
|
|
| 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
|
|
|
| Yunis-Varon Syndrome |
|
Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia
|
Yunis Varon Syndrome
|
|
YVS
|
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
|
|
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia
|
Yunis-Varón Syndrome
|
|
|
| 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
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Charcot-Marie-Tooth Disease Axonal Type 2b1
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| Spinal Muscular Atrophy, Type Iii |
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SMA3
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Juvenile Spinal Muscular Atrophy
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Kugelberg-Welander Disease
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Sma Iii
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Kugelberg-Welander Syndrome
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Kws
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Muscular Atrophy, Juvenile
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Spinal Muscular Atrophy, Mild Childhood And Adolescent Form
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Spinal Muscular Atrophy-3
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Spinal Muscular Atrophy Type 3
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Spinal Muscular Atrophy, Type Iii, Modifier Of
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Type Iii Spinal Muscular Atrophy
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Sma 3
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Proximal Spinal Muscular Atrophy Type 3
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Sma Type 3
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Sma Type Iii
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Sma-Iii
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Spinal Muscular Atrophy 3
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Spinal Muscular Atrophy Mild Childhood And Adolescent Form
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Spinal Muscular Atrophy Type Iii
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Wohlfart-Kugelberg-Welander Disease
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Atrophy, Muscular, Spinal, Type Iii
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| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Hereditary Sensory And Autonomic Neuropathy Type 2
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Hsan2
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HSAN2A
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Morvan Disease
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Hereditary Sensory And Autonomic Neuropathy Type Ii
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Neurogenic Acroosteolysis
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Hsan Iia
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Hsn2a
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Hsn Iia
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Neuropathy, Progressive Sensory, Of Children
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Neuropathy, Congenital Sensory
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Neuropathy, Hereditary Sensory And Autonomic, Type Ii
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Hereditary Sensory And Autonomic Neuropathy Type 2a
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Hereditary Sensory And Autonomic Neuropathy Type Iia
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Hsanii
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Congenital Sensory Neuropathy
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Hsan Type Ii
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Morvan Syndrome
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Neuropathy, Hereditary Sensory And Autonomic, Type 2a
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Morvan'S Disease
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Neuropathy, Hereditary Sensory, Type Iia
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Acroosteolysis, Neurogenic
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Acroosteolysis, Giaccai Type
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Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
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Hereditary Sensory Autonomic Neuropathy Type 2
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Giaccai Type Acroosteolysis
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Hereditary Sensory Neuropathy Type 2
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Hereditary Sensory Radicular Neuropathy, Recessive Form
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Hsan2b
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Hsan2c
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Hsan2d
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Hsn Type Ii
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Autosomal Recessive Sensory Radicular Neuropathy
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Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
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Morvan Fibrillary Chorea
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Neuropathy, Hereditary Sensory And Autonomic, 2a
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Acroosteolysis Giaccai Type
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Hereditary Sensory Neuropathy Type Iia
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Hereditary Sensory Radicular Neuropathy Autosomal Recessive
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Progressive Sensory Neuropathy Of Children
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Neuropathy Congenital Sensory
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Charcot-Marie-Tooth Disease
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Neuropathy, Sensory And Autonomic, Hereditary, Type Iia
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Hereditary Sensory Autonomic Neuropathy, Type 2
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Hereditary Motor And Sensory-Neuropathy Type Ii
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Sensory Neuropathy, Hereditary
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Neuropathy, Hereditary Sensory And Autonomic, Type Iib
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| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Aoa2
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Ataxia With Oculomotor Apraxia Type 2
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Scar1
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SCAN2
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Ataxia-Oculomotor Apraxia 2
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Ataxia-Ocular Apraxia 2
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Ataxia-Oculomotor Apraxia Type 2
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Scan 2
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Spinocerebellar Ataxia With Axonal Neuropathy Type 2
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Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
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Scar1, Formerly
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Autosomal Recessive Spinocerebellar Ataxia-1
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Spinocerebellar Ataxia, Autosomal Recessive, 1
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Ataxia-Ocular Apraxia-2
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Spinocerebellar Ataxia, Autosomal Recessive 1
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| Distal Arthrogryposis |
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Arthrogryposis Multiplex Congenita
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Arthrogryposis
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Congenital Multiple Arthrogryposis
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Congenital Arthromyodysplasia
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Fibrous Ankylosis Of Multiple Joints
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Guerin-Stern Syndrome
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Guérin-Stern Syndrome
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Myodystrophia Fetalis Deformans
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Otto Syndrome
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Rocher-Sheldon Syndrome
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Rossi Syndrome
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Amc
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Multiple Congenital Arthrogryposis
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Arthrogryposis Syndrome
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Arthrogryposis, Distal
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Distal Arthrogryposis Syndrome
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Freeman-Sheldon Syndrome
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Arthrogryposis, Distal, Type 2b
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Congenital Multiplex Arthrogryposis
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Amyoplasia Congenita
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Congenital Amyoplasia
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Amc - [Arthrogryposis Multiplex Congenita]
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| Brown-Vialetto-Van Laere Syndrome |
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| Neuronopathy, Distal Hereditary Motor, Type Va |
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Dsmav
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Distal Hereditary Motor Neuropathy Type V
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Young Adult-Onset Distal Hereditary Motor Neuropathy
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Neuronopathy, Distal Hereditary Motor, Type V
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Distal Hereditary Motor Neuronopathy Type 5
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Dhmn5
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Distal Spinal Muscular Atrophy Type 5
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HMN5A
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Hmn5
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Dhmn5a
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Dhmn Va
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Dsmava
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Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
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Distal Hmn V
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Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
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Dsma5
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Young Adult-Onset Dhmn
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Dhmn-V
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Hmn V
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Neuronopathy, Distal Hereditary Motor, Type 5a
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Hmn 5a
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Neuropathy, Distal Hereditary Motor, Type Va
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Spinal Muscular Atrophy, Distal, Type Va
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Spinal Muscular Atrophy, Distal, Type V
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Distal Spinal Muscular Atrophy Type V
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Distal Spinal Muscular Atrophy With Upper Limb Predominance
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Distal Hereditary Motor Neuronopathy Type 5a
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Distal Hmn Va
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Distal Spinal Muscular Atrophy Type Va
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Distal Hereditary Motor Neuropathy, Type V
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Distal Hereditary Motor Neuronopathy, Type V
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Distal Spinal Muscular Atrophy, Type V
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Spinal Muscular Atrophy, Distal Type V
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Distal Hereditary Motor Neuropathy Type 5
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Neuronopathy, Distal Hereditary Motor, 5a
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Dhmn V
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Distal Hereditary Motor Neuronopathy Type Va
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Distal Hereditary Motor Neuropathy Type Va
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Dsma-V
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Hmn Va
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Spinal Muscular Atrophy Distal Type V
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Spinal Muscular Atrophy Distal Type Va
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Spinal Muscular Atrophy Distal With Upper Limb Predominance
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Neuropathy, Distal Hereditary Motor, Type V
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Neuropathy, Motor, Distal, Hereditary, Type Va
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| Neuromuscular Disease |
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Neuromuscular Diseases
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Neuromuscular Disorders
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Neuromuscular Disorder
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| Hypertrophic Neuropathy Of Dejerine-Sottas |
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Dejerine-Sottas Disease
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Dejerine-Sottas Syndrome
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Charcot-Marie-Tooth Disease Type 3
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DSS
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Hereditary Motor And Sensory Neuropathy Type Iii
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Hmsn3
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Dejerine-Sottas Neuropathy
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Hmsn Iii
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Charcot-Marie-Tooth Disease, Type 3
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Cmt3
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Dsn
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Hmsn 3
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Hereditary Motor And Sensory Neuropathy Type 3
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Hereditary Motor And Sensory Neuropathy 3
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Hypertrophic Neuropathy Of Infancy
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Charcot-Marie-Tooth Disease Demyelinating Type 4f
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Charcot-Marie-Tooth Disease Type 4f
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Charcot-Marie-Tooth Neuropathy Type 4f
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Cmt4f
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Hereditary Motor And Sensory Neuropathy Iii
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Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
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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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| 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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