| Diseases |
Alias |
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2o |
|
Charcot-Marie-Tooth Disease Axonal Type 2o
|
CMT2O
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2o
|
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2o
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2o
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2o
|
Charcot-Marie-Tooth Disease 2o
|
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2o
|
|
|
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
SMALED1
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
Kugelberg-Welander Syndrome, Autosomal Dominant
|
Smaled
|
|
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant
|
Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Ad
|
|
Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 1
|
Dync1h1-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
|
|
Dync1h1-Related Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy
|
Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Autosomal Dominant
|
|
Autosomal Dominant Childhood Proximal Spinal Muscular Atrophy
|
Autosomal Dominant Juvenile Proximal Spinal Muscular Atrophy
|
|
Autosomal Dominant Kugelberg-Welander Syndrome
|
Sma-Led
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 13 |
|
MRD13
|
Mental Retardation, Autosomal Dominant 13
|
|
Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects
|
Autosomal Dominant Non-Syndromic Intellectual Disability 13
|
|
Autosomal Dominant Intellectual Developmental Disorder 13
|
Autosomal Dominant Mental Retardation 13
|
|
Mental Retardation, Autosomal Dominant, Type 13
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Neuronal Migration Disorders |
|
Abnormality Of Neuronal Migration
|
Malformations Of Cortical Development, Group Ii
|
|
Neuronal Dysmigration Syndromes
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| 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 Non-Syndromic Intellectual Disability |
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
|
Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Polymicrogyria |
|
|
| 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
|
|
|
| Spinal Muscular Atrophy With Lower Extremity Predominant 1 |
|
Spinal Muscular Atrophy With Lower Extremity Predominance 1
|
|
|
| Muscular Atrophy |
|
Muscle Wasting
|
Amyotrophia
|
|
Wasting - Muscle
|
Skeletal Muscle Atrophy
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Hypotonia |
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Autism Spectrum Disorder |
|
Asd
|
Autism Spectrum Disorders
|
|
Autistic Continuum
|
Pervasive Developmental Disorder
|
|
Pervasive Development Disorder
|
Autistic Behavior
|
|
Autistic Disorder
|
Autistic
|
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
|
Childhood Autism
|
Kanner Syndrome
|
|
Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| 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
|
|
|
| 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
|
|
|
| Hypomagnesemia 6, Renal |
|
Renal Hypomagnesemia 6
|
HOMG6
|
|
Renal Hypomagnesemia-6
|
Hypomagnesemia 6
|
|
Hypomagnesemia, Type 6, Renal
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
HMN7B
|
Hmn Viib
|
|
Dhmn7b
|
Neuropathy, Distal Hereditary Motor, Type Viib
|
|
Distal Hereditary Motor Neuronopathy Type 7b
|
Distal Hereditary Motor Neuropathy Type Viib
|
|
Neuronopathy, Distal Hereditary Motor, Type 7b
|
Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib
|
|
Lower Motor Neuron Disease, Dynactin Type
|
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b
|
|
Harper-Young Myopathy
|
Neuronopathy, Distal Hereditary Motor, 7b
|
|
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib
|
Lower Motor Neuron Disease Dynactin Type
|
|
Plmnd
|
Progressive Lower Motor Neuron Disease
|
|
Neuropathy, Motor, Distal, Hereditary, Type Viib
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
MRD35
|
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
|
|
Autosomal Dominant Non-Syndromic Intellectual Disability 35
|
Mental Retardation, Autosomal Dominant 35
|
|
Autosomal Dominant Intellectual Developmental Disorder 35
|
Autosomal Dominant Mental Retardation 35
|
|
Mental Retardation, Autosomal Dominant, Type 35
|
|
|
| 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
|
|
|
| Distal Hereditary Motor Neuronopathy Type 7 |
|
Dhmn7
|
Dhmnvpy
|
|
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
|
|
|
| Perry Syndrome |
|
Parkinsonism With Alveolar Hypoventilation And Mental Depression
|
PERRYS
|
|
|
| Developmental And Epileptic Encephalopathy 66 |
|
DEE66
|
Epileptic Encephalopathy, Early Infantile, 66
|
|
Eiee66
|
Developmental And Epileptic Encephalopathy, 66
|
|
Early Infantile Epileptic Encephalopathy 66
|
Encephalopathy, Epileptic, Early Infantile, Type 66
|
|
|
| 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
|
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
CMTX2
|
Charcot-Marie-Tooth Disease X-Linked Recessive 2
|
|
X-Linked Charcot-Marie-Tooth Disease Type 2
|
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2
|
|
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2
|
Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
|
|
|
| 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
|
|
|
| Congenital Disorder Of Glycosylation, Type Iim |
|
CDG2M
|
Congenital Disorder Of Glycosylation Type Iim
|
|
Slc35a2-Cdg
|
Epileptic Encephalopathy, Early Infantile, 22
|
|
Cdg-Iim
|
Cdg Iim
|
|
Cdgiim
|
Developmental And Epileptic Encephalopathy 22
|
|
Eiee22
|
Congenital Disorder Of Glycosylation Type 2m
|
|
Cdg Syndrome Type Iim
|
Dee22
|
|
Slc35a2-Congenital Disorder Of Glycosylation
|
Epileptic Encephalopathy, Early Infantile, 22
|
|
Eiee22
|
Congenital Disorder Of Glycosylation 2m
|
|
Congenital Disorder Of Glycosylation X-Linked
|
Glycosylation, Congenital Disorder Of, Type Iim
|
|
|
| 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
|
|
|
| Tubulinopathy |
|
|
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral Perisylvian Polymicrogyria
|
Polymicrogyria, Bilateral Perisylvian
|
|
Pmgx
|
Perisylvian Syndrome, Congenital Bilateral
|
|
Cbps
|
Congenital Bilateral Perisylvian Syndrome
|
|
Perisylvian Syndrome
|
BPPX
|
|
Bpp
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type Iic |
|
HMN2C
|
Hmn Iic
|
|
Dhmn2c
|
Distal Hereditary Motor Neuronopathy Type 2c
|
|
Distal Hereditary Motor Neuropathy Type Iic
|
Neuronopathy, Distal Hereditary Motor, Type 2c
|
|
Neuropathy, Distal Hereditary Motor, Type Iic
|
Neuronopathy, Distal Hereditary Motor, 2c
|
|
Dhmn Iic
|
Neuropathy, Motor, Distal, Hereditary, Type 2c
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1f |
|
Charcot-Marie-Tooth Disease Type 1f
|
CMT1F
|
|
Charcot-Marie-Tooth Disease, Type 1f
|
Charcot-Marie-Tooth Neuropathy Type 1f
|
|
Charcot-Marie-Tooth Neuropathy, Type 1f
|
Charcot-Marie-Tooth Disease Type 2b5
|
|
Ar-Cmt2b5
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5
|
|
Seoan Due To Nefl Deficiency
|
Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency
|
|
Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency
|
Charcot-Marie-Tooth Disease 1f
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1f
|
Charcot-Marie-Tooth Disease, Type If
|
|
|
| Band Heterotopia |
|
Subcortical Band Heterotopia
|
Double Cortex Syndrome
|
|
Subcortical Laminar Heterotopia
|
Double Cortex
|
|
Band Heterotopia Of Brain
|
BH
|
|
Heco
|
Heterotopic Cortex
|
|
Familial Band Heterotopia
|
Dc
|
|
Dc Syndrome
|
Heterotopia, Subcortical Band
|
|
Sbh
|
Sclh
|
|
Bhy
|
|
|
| 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
|
|
|
| Frontotemporal Dementia |
|
Pallidopontonigral Degeneration
|
Frontotemporal Lobar Degeneration
|
|
Semantic Dementia
|
FTD
|
|
Frontotemporal Lobe Dementia
|
Multiple System Tauopathy With Presenile Dementia
|
|
Dementia, Frontotemporal
|
Frontotemporal Dementia With Parkinsonism
|
|
Mstd
|
Frontotemporal Lobar Degeneration With Tau Inclusions
|
|
Ftld With Tau Inclusions
|
Dementia, Frontotemporal, With Parkinsonism
|
|
Fldem
|
Ftdp17
|
|
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
|
Ddpac
|
|
Wilhelmsen-Lynch Disease
|
Wld
|
|
Ppnd
|
Dementia, Frontotemporal, With Or Without Parkinsonism
|
|
Semantic Primary Progressive Aphasia
|
Semantic Variant Ppa
|
|
Wilhemsen-Lynch Disease
|
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17
|
Ftd-Als
|
|
Ftld
|
Pick Complex
|
|
Pick Disease Of The Brain
|
Frontotemporal Dementia With Parkinsonism-17
|
|
Grn-Related Frontotemporal Dementia
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Dementia In Fronto-Temporal Lobar Degeneration
|
Ftd - [Frontotemporal Dementia]
|
|
Temple Dementia
|
Frontal Lobe Dementia
|
|
|
| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
Autosomal Dominant Distal Hereditary Motor Neuropathy
|
Autosomal Dominant Dhmn
|
|
Autosomal Dominant Distal Spinal Muscular Atrophy
|
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
|
Autosomal Dominant Mental Retardation
|
Autosomal Dominant Non-Syndromic Mental Retardation
|
|
Autosomal Dominant Non-Syndromic Intellectual Disability
|
Mental Retardation, Autosomal Dominant
|
|
|
| Miller-Dieker Lissencephaly Syndrome |
|
Miller-Dieker Syndrome
|
Mds
|
|
MDLS
|
Miller Dieker Syndrome
|
|
Classical Lissencephaly Syndrome
|
Lissencephaly Due To 17p13.3 Deletion
|
|
Monosomy 17p13.3
|
Telomeric Deletion 17p
|
|
Classical Lissencephaly
|
|
|
| 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
|
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
SPG10
|
Hereditary Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia Type 10
|
Spastic Paraplegia 10
|
|
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy
|
Autosomal Dominant Spastic Paraplegia 10
|
|
Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 10
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| 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
|
|
|
| Coffin-Siris Syndrome 1 |
|
Coffin-Siris Syndrome
|
Fifth Digit Syndrome
|
|
Css
|
CSS1
|
|
Mrd12
|
Mental Retardation, Autosomal Dominant 12
|
|
Hhid
|
Dwarfism-Onychodysplasia
|
|
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
|
Autosomal Dominant Mental Retardation 12
|
|
Short Stature-Onychodysplasia.
|
Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
|
|
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
|
Short Stature-Onychodysplasia
|
|
Coffin-Siris Syndrome, Type 1
|
Mental Retardation, Autosomal Dominant, Type 12
|
|
|
| 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]
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| West Syndrome |
|
Infantile Spasms
|
Infantile Spasms Syndrome
|
|
Infantile Spasm
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Infantile Spasms
|
Epileptic Encephalopathy, Early Infantile, 1
|
|
Is
|
Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
|
|
West'S Syndrome
|
Spasms, Infantile
|
|
Is -[Infantile Spasm]
|
Salaam Spasm
|
|
Salaam Tic
|
|
|
| Parkinson Disease, Late-Onset |
|
Parkinson Disease
|
Parkinson'S Disease
|
|
PD
|
PARK
|
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
|
Parkinson Disease Nos
|
Parkinson, Nos
|
|
Primary Parkinson Disease
|
|
|
