| Diseases |
Alias |
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
DSMA4
|
Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset
|
|
Distal Spinal Muscular Atrophy Type 4
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 4
|
|
Distal Spinal Muscular Atrophy, Autosomal Recessive, 4
|
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4
|
|
|
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Charcot-Marie-Tooth Disease Recessive Intermediate C
|
CMTRIC
|
|
Ri-Cmtc
|
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C
|
|
Ri-Cmt Type C
|
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C
|
|
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C
|
Charcot-Marie-Tooth Neuropathy Recessive Intermediate C
|
|
|
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
|
| Juvenile Amyotrophic Lateral Sclerosis |
|
Jals
|
Juvenile Charcot Disease
|
|
Juvenile Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis, Juvenile
|
|
|
| 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]
|
|
|
| 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
|
|
|
| Muscular Atrophy |
|
Muscle Wasting
|
Amyotrophia
|
|
Wasting - Muscle
|
Skeletal Muscle Atrophy
|
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
CMTDIF
|
Charcot-Marie-Tooth Disease Dominant Intermediate F
|
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F
|
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Charcot-Marie-Tooth Disease Recessive Intermediate A
|
CMTRIA
|
|
Ri-Cmta
|
Charcot-Marie-Tooth Disease, Recessive Intermediate, A
|
|
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A
|
Charcot-Marie-Tooth Neuropathy Recessive Intermediate A
|
|
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A
|
Ri-Cmt Type A
|
|
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A
|
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
CMTDIE
|
Charcot-Marie-Tooth Disease Dominant Intermediate E
|
|
Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E
|
|
Charcot-Marie-Tooth Disease-Nephropathy Syndrome
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E
|
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E
|
|
|
| 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
|
|
|
| Autosomal Recessive Distal Hereditary Motor Neuronopathy |
|
Autosomal Recessive Distal Spinal Muscular Atrophy
|
|
|
| Tooth Disease |
|
Tooth Diseases
|
Teeth Disease
|
|
Tooth Disorders
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2q |
|
Charcot-Marie-Tooth Disease Axonal Type 2q
|
CMT2Q
|
|
Charcot-Marie-Tooth Neuropathy, Type 2q
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q
|
|
Charcot-Marie-Tooth Neuropathy Type 2q
|
Charcot-Marie-Tooth Disease 2q
|
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2q
|
|
|
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Charcot-Marie-Tooth Disease Recessive Intermediate D
|
CMTRID
|
|
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D
|
Ri-Cmt Type D
|
|
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D
|
|
|
| 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
|
|
|
| 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
|
|
|
| Distal Hereditary Motor Neuronopathy Type 7 |
|
Dhmn7
|
Dhmnvpy
|
|
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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, Dominant Intermediate B |
|
CMTDIB
|
Charcot-Marie-Tooth Disease Dominant Intermediate B
|
|
Di-Cmtb
|
Cmtdi1
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
|
Charcot-Marie-Tooth Neuropathy Dominant Intermediate B
|
|
CMT2M
|
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
|
|
Charcot-Marie-Tooth Disease, Axonal Type 2m
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
|
|
Charcot-Marie-Tooth Disease 2m
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m
|
|
Charcot-Marie-Tooth Disease Axonal Type 2m
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2m
|
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B
|
Charcot-Marie-Tooth Disease, Axonal, Type 2m
|
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B
|
|
|
| Developmental And Epileptic Encephalopathy 12 |
|
Epileptic Encephalopathy, Early Infantile, 12
|
DEE12
|
|
Eiee12
|
Early Infantile Epileptic Encephalopathy 12
|
|
Developmental And Epileptic Encephalopathy, 12
|
Encephalopathy, Epileptic, Early Infantile, Type 12
|
|
|
| Osteogenesis Imperfecta, Type I |
|
Osteogenesis Imperfecta Type I
|
OI1
|
|
Oi, Type I
|
Osteogenesis Imperfecta Tarda
|
|
Osteogenesis Imperfecta With Blue Sclerae
|
Osteogenesis Imperfecta Type 1
|
|
Adair-Dighton Syndrome
|
Mild Osteogenesis Imperfecta
|
|
Non-Deforming Osteogenesis Imperfecta
|
Oi Type 1
|
|
Van Der Hoeve Syndrome
|
Classic Non-Deforming Oi With Blue Sclerae
|
|
Osteogenesis Imperfecta 1
|
Oi-I
|
|
Osteopenic Non-Fracture Syndrome
|
Osteogenesis Imperfecta, Mild
|
|
Osteogenesis Imperfecta
|
Lobstein'S Disease
|
|
|
| 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
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
