| Diseases |
Alias |
|
| Fragile X Syndrome |
|
FXS
|
Martin-Bell Syndrome
|
|
Fraxa Syndrome
|
Marker X Syndrome
|
|
X-Linked Mental Retardation And Macroorchidism
|
Fragile X Mental Retardation Syndrome
|
|
Fra Syndrome
|
Mental Retardation, X-Linked, Associated With Marxq28
|
|
X-Linked Intellectual Disability And Macroorchidism
|
Frax Syndrome
|
|
Symptomatic Form Of Fragile X Syndrome In Female Carriers
|
Fragile-X Syndrome
|
|
Fraxe Syndrome
|
|
|
| Premature Ovarian Failure 1 |
|
Ovarian Failure, Premature
|
Fmr1-Related Primary Ovarian Insufficiency
|
|
Fragile X-Associated Primary Ovarian Insufficiency
|
POF1
|
|
Pofx
|
Hypergonadotropic Ovarian Failure, X-Linked
|
|
Pof
|
Primary Ovarian Insufficiency, Fragile X-Associated
|
|
Primary Ovarian Insufficiency 1
|
Ovarian Failure Premature
|
|
Premature Ovarian Failure, X-Linked
|
Fragile X Premature Ovarian Failure
|
|
Fmr1-Related Premature Ovarian Failure
|
Familial Premature Ovarian Failure
|
|
Idiopathic Familial Premature Ovarian Failure
|
Fxpoi
|
|
X-Linked Hypergonadotropic Ovarian Failure
|
Hypergonadotropic Ovarian Failure X-Linked
|
|
Poi
|
Premature Ovarian Failure X-Linked
|
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure-1
|
|
Ovarian Failure, Premature, Type 1
|
Premature Ovarian Failure, Familial
|
|
Premature Menopause
|
Primary Hypogonadism
|
|
Turner Syndrome
|
|
|
| Fragile X Tremor/Ataxia Syndrome |
|
|
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Fxtas Syndrome
|
Fragile X Tremor/Ataxia Syndrome
|
|
Fxtas
|
|
|
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Xq27.3q28 Duplication Syndrome
|
Dup
|
|
Trisomy Xq27.3-Q28
|
Trisomy Xq27.3q28
|
|
Xq27.3-Q28 Microduplication Syndrome
|
|
|
| X-Linked Hereditary Ataxia |
|
|
| Intellectual Developmental Disorder, X-Linked 109 |
|
Fraxe Syndrome
|
Fragile Xe Syndrome
|
|
Mental Retardation, X-Linked, Fraxe Type
|
XLID109
|
|
Mrx109
|
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
|
|
Fraxe Mental Retardation Syndrome
|
X-Linked Intellectual Developmental Disorder 109
|
|
Fraxe Intellectual Disability
|
Fraxe
|
|
Mental Retardation, X-Linked 109
|
Fragile Site On Chromosome Xq28
|
|
Fragile Site, Folic Acid Type
|
X-Linked Intellectual Disability Associated With Fragile Site Fraxe
|
|
Fraxe Intellectual Deficit
|
Intellectual Disability Associated With Fragile Site Fraxe
|
|
|
| Friedreich Ataxia |
|
Friedreich Ataxia 1
|
FRDA
|
|
Friedreich Ataxia With Retained Reflexes
|
Frda1
|
|
Fa
|
Friedreich'S Ataxia
|
|
Hereditary Spinal Ataxia
|
Fa1
|
|
Friedreich'S Tabes
|
Hereditary Spinal Sclerosis
|
|
Spinocerebellar Ataxia, Friedreich
|
Friedreich Spinocerebellar Ataxia
|
|
Friedrich'S Ataxia
|
|
|
| Learning Disability |
|
Learning Disabilities
|
Learning Disorders
|
|
Academic Skill Disorder
|
Learning Disorder
|
|
|
| Echolalia |
|
|
| Ovarian Disease |
|
Ovarian Dysfunction
|
Ovarian Diseases
|
|
Ovarian Disorders
|
Disorder Of Endocrine Ovary
|
|
|
| Tremor |
|
Medicament-Induced Tremor
|
Medication-Induced Postural Tremor
|
|
|
| Influenza |
|
Flu
|
Influenza With Non-Respiratory Manifestation
|
|
Influenza With Other Manifestations
|
Influenza, Human
|
|
Influenza, Susceptibility To
|
Seasonal Influenza, Virus Identified
|
|
|
| Anxiety |
|
Anxiety Disorder
|
Anxiety Disorders
|
|
Anxiety State
|
Anxieties
|
|
Anxiety Neurosis
|
|
|
| Parkinsonism |
|
Parkinsonism-Plus
|
Idiopathic Parkinsonism
|
|
Primary Parkinsonism
|
Paralysis Agitans Syndrome
|
|
Parkinsonian Syndrome
|
Trembling Paralysis
|
|
Paralysis Agitans
|
Shaking Palsy
|
|
Shaking Paralysis
|
|
|
| Specific Developmental Disorder |
|
|
| Essential Tremor |
|
Benign Essential Tremor
|
Familial Tremor
|
|
Hereditary Essential Tremor
|
Essential Hereditary Tremor
|
|
Shaky Hand Syndrome
|
Benign Essential Tremor Syndrome
|
|
Tremor Hereditary Essential
|
Essential Tremor, Susceptibility To
|
|
Tremor, Hereditary Essential
|
|
|
| Audiogenic Seizures |
|
|
| Turner Syndrome |
|
Monosomy X
|
Gonadal Dysgenesis Turner Type
|
|
Ullrich-Turner Syndrome
|
Bonnevie-Ullrich Syndrome
|
|
Karyotype 45, X
|
Genital Dwarfism, Turner Type
|
|
Gonadal Dysgenesis
|
45,X
|
|
Turner'S Syndrome
|
Gonadal Dysgenesis - Turner
|
|
Monosomy X Syndrome
|
Xo Syndrome
|
|
Genital Dwarfism
|
45, X Syndrome
|
|
Bonnevie-Ulrich Syndrome
|
Chromosome X Monosomy X
|
|
Schereshevkii Turner Syndrome
|
Turner Varny Syndrome
|
|
Ts
|
45,X Syndrome
|
|
45,X/46,Xx Syndrome
|
Turners Syndrome
|
|
Gonadal Dysgenesis, 45,X
|
X0 Syndrome
|
|
|
| Amenorrhea |
|
Absence Of Menstruation
|
Amenia
|
|
|
| Middle Cranial Fossa Meningioma |
|
Meningioma Of The Middle Cranial Fossa
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Fibromyalgia |
|
Diffuse Myofascial Pain Syndrome
|
Fibromyalgia Syndrome
|
|
Fibromyalgia-Fibromyositis Syndrome
|
Fibromyositis
|
|
Fibrositis
|
Fms
|
|
Myofascial Pain Syndrome
|
Myofascial Pain Syndromes
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| Myotonic Dystrophy 1 |
|
Myotonic Dystrophy
|
Dystrophia Myotonica
|
|
Steinert Disease
|
Myotonic Dystrophy Type 1
|
|
Myotonia Atrophica
|
DM1
|
|
Congenital Myotonic Dystrophy
|
Myotonia Dystrophica
|
|
Steinert Myotonic Dystrophy
|
Dystrophia Myotonica 1
|
|
Dm
|
Steinert'S Disease
|
|
Steinert Myotonic Dystrophy Syndrome
|
Myotonic Dystrophy Of Steinert
|
|
Dystrophia Myotonica Type 1
|
Myotonic Dystrophy Congenital
|
|
Dystrophy, Myotonic, Type 1
|
Dm - [Dystrophia Myotonica]
|
|
Myotonic Muscular Dystrophy
|
|
|
| Atypical Autism |
|
|
| Premature Menopause |
|
Primary Ovarian Insufficiency
|
Premature Ovarian Failure
|
|
Hypergonadotropic Hypogonadism
|
Premature Ovarian Insufficiency
|
|
Menopause - Premature
|
Menopause Praecox
|
|
Menopause Premature
|
Menopause, Premature
|
|
Female Hypergonadotropic Hypogonadism
|
Hypergonadotrophic Ovarian Failure
|
|
Primary Female Hypogonadism
|
Pof - [Premature Ovarian Failure]
|
|
Ovarian Failure
|
Ovarian Secretion Suppression
|
|
Ovary Hyposecretion
|
Ovary Secretion Deficiency
|
|
Premature Menopause Nos
|
|
|
| Dementia |
|
Dementias
|
Presenile Dementia
|
|
Alzheimer Type Dementia
|
Alzheimer Sclerosis
|
|
Alzheimer Disease Dementia
|
Alzheimer Dementia
|
|
Primary Degenerative Alzheimer Type Dementia
|
End Stage Alzheimer'S Dementia
|
|
Alzheimer'S Type Atypical Dementia
|
Alzheimer Type Presenile Dementia
|
|
Early Onset Alzheimer Dementia
|
Dementia In Alzheimer Disease Type 2
|
|
Dementia In Alzheimer Disease With Early Onset
|
Early Onset Alzheimer Type Dementia, Uncomplicated
|
|
Primary Degenerative Alzheimer Type Dementia, Early Onset
|
Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated
|
|
Alzheimer Disease Dementia With Early Onset
|
Presenile Sclerosis
|
|
Presenile Brain Sclerosis
|
Presenile Alzheimer Brain Sclerosis
|
|
Late Onset Alzheimer Dementia
|
Dementia In Alzheimer Disease Type 1
|
|
Dementia In Alzheimer Disease With Late Onset
|
Primary Degenerative Alzheimer Type Dementia, Late Onset
|
|
Sdat - [Senile Dementia, Alzheimer Type]
|
Alzheimer Disease Dementia With Late Onset
|
|
Late Onset Alzheimer Brain Sclerosis
|
Senile Alzheimer Brain Disease
|
|
Senile Alzheimer Brain Sclerosis
|
Senile Primary Degenerative Alzheimer Type Dementia
|
|
Senile Dementia Of The Alzheimer Type
|
Arteriosclerotic Dementia
|
|
Strategic-Infarct Dementia
|
Post Stroke Dementia
|
|
Vascular Cognitive Impairment
|
Vascular Dementia
|
|
Dementia Of The Lewy Body Type
|
Dementia With Lewy Bodies
|
|
Sdlt - [Senile Dementia Of The Lewy Body Type]
|
Senile Dementia Of The Lewy Body Type
|
|
Alcohol-Related Dementia
|
Alcoholic Dementia Nos
|
|
Alcohol-Induced Dementia
|
Alcoholic Brain Syndrome
|
|
Chronic Alcoholic Brain Syndrome
|
Alcohol Dementia
|
|
Late Onset Alcoholic Psychosis
|
Residual And Late-Onset Alcohol-Induced Psychotic Disorder
|
|
Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder
|
Late-Onset Psychoactive Substance-Induced Psychotic Disorder
|
|
Inhalant Dementia
|
Volatile Solvents Dementia
|
|
Dementia In Paralysis Agitans
|
Pdd - [Parkinson Disease Dementia]
|
|
Dementia Syndrome Of Parkinson Disease
|
Dementia In Parkinson Disease
|
|
Parkinson Related Dementia
|
Dementia In Huntington Chorea
|
|
Hiv - [Human Immunodeficiency Virus] Dementia
|
Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex
|
|
Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex
|
Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex
|
|
Aids Related Dementia
|
Dementia Due To Niacin Deficiency
|
|
|
| Restless Legs Syndrome |
|
Wed
|
Willis-Ekbom Disease
|
|
Restless Leg Syndrome
|
Ekbom Syndrome
|
|
Wittmaack-Ekbom Syndrome
|
Willis Ekbom Disease
|
|
Ekbom'S Syndrome
|
Rls
|
|
Restless Legs
|
Restless Legs Syndrome, Susceptibility To
|
|
|
| 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
|
|
|
| Social Phobia |
|
Phobia, Social
|
Phobia Social
|
|
Phobic Anxiety Disorder
|
|
|
| Beckwith-Wiedemann Syndrome |
|
Wiedemann-Beckwith Syndrome
|
BWS
|
|
Exomphalos-Macroglossia-Gigantism Syndrome
|
Emg Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation
|
Emg Abnormality
|
|
Wbs
|
Exomphalos Macroglossia Gigantism Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation
|
Macroglossia Exomphalos Gigantism
|
|
|
| Multiple System Atrophy 1 |
|
Multiple System Atrophy
|
Shy-Drager Syndrome
|
|
Msa
|
MSA1
|
|
Multiple System Atrophy 1, Susceptibility To
|
Sporadic Olivopontocerebellar Atrophy
|
|
Multisystem Atrophy
|
Msa1, Susceptibility To
|
|
Multiple System Atrophy, Susceptibility To
|
Opca
|
|
Progressive Autonomic Failure With Multiple System Atrophy
|
Sds
|
|
|
| Phobic Disorder |
|
Phobic Disorders
|
Phobic Anxiety Disorder
|
|
|
| Disease Of Mental Health |
|
Mental Health
|
Mental Disorders
|
|
|
| Huntington Disease |
|
Huntington'S Disease
|
Huntington Chorea
|
|
Huntington'S Chorea
|
HD
|
|
Huntington Chronic Progressive Hereditary Chorea
|
Juvenile Huntington Disease
|
|
Chronic Progressive Chorea
|
Chronic Progressive Hereditary Chorea
|
|
Hc - [Huntington Chorea]
|
Hereditary Chorea
|
|
Progressive Hereditary Chorea
|
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Gene Duplication Disease |
|
Gene Duplication Syndrome
|
|
|
| Hereditary Ataxia |
|
Sca
|
Spinocerebellar Ataxia
|
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
| Intestinal Disaccharidase Deficiency |
|
Disaccharidase Deficiency
|
|
|
| Phelan-Mcdermid Syndrome |
|
Chromosome 22q13.3 Deletion Syndrome
|
22q13.3 Deletion Syndrome
|
|
Telomeric 22q13 Monosomy Syndrome
|
PHMDS
|
|
Deletion 22q13 Syndrome
|
22q13.3 Deletion
|
|
Deletion 22q13.3 Syndrome
|
Monosomy 22q13
|
|
Monosomy 22q13.3
|
22q13 Deletion Syndrome
|
|
Monosomy 22q13 Syndrome
|
22q13 Deletion
|
|
Chromosome Deletion
|
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Wilson-Turner Syndrome
|
WTS
|
|
Mrxs6
|
X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome
|
|
Mrxswt
|
Wilson-Turner X-Linked Mental Retardation Syndrome
|
|
Mental Retardation, X-Linked, Syndromic 6
|
Mental Retardation, X-Linked, With Gynecomastia And Obesity
|
|
Intellectual Disability, X-Linked, Syndromic 6
|
Intellectual Disability, X-Linked, With Gynecomastia And Obesity
|
|
Wilson Turner Intellectual Disability Syndrome
|
X-Linked Intellectual Disability - Gynecomastia - Obesity
|
|
|
| Schizoid Personality Disorder |
|
|
| Spinocerebellar Ataxia 10 |
|
Spinocerebellar Ataxia Type 10
|
SCA10
|
|
Spinocerebellar Ataxia-10
|
Ataxia, Spinocerebellar, Type 10
|
|
|
| Phobia, Specific |
|
Specific Phobia
|
Simple Phobia
|
|
Phobia, Simple
|
Isolated Phobia
|
|
|
| Chromosomal Duplication Syndrome |
|
|
| Speech And Communication Disorders |
|
Language Disorder
|
Communication Disorder
|
|
Language Disorders
|
Communication Disorders
|
|
Speech Language Disorder
|
Speech-Language Disorder
|
|
Communication Impairment
|
Speech And Language Disorder
|
|
|
| Prader-Willi Syndrome |
|
Prader-Labhart-Willi Syndrome
|
PWS
|
|
Willi-Prader Syndrome
|
Prader-Willi Syndrome Due To Translocation
|
|
Prader-Willi Syndrome Due To Imprinting Mutation
|
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
|
|
Prader Willi Syndrome
|
Upd(15)Mat
|
|
|
| Attention Deficit-Hyperactivity Disorder |
|
Attention Deficit Hyperactivity Disorder
|
ADHD
|
|
Attention Deficit Disorder
|
Attention Deficit-Hyperactivity Disorder, Susceptibility To
|
|
Attention Deficit Disorder With Hyperactivity
|
Hyperkinetic Disorder
|
|
Hyperactivity Of Childhood
|
Attention-Deficit/Hyperactivity Disorder
|
|
Add
|
Addh
|
|
Attention Deficit
|
Attention Deficit Disorder Of Childhood With Hyperactivity
|
|
Attention Deficit Disorder With Hyperactivity Syndrome
|
Hyperkinetic Syndrome
|
|
Attention-Deficit Hyperactivity Disorder
|
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
|
|
Disturbance Of Activity And Attention
|
Disorder Of Activity And Attention
|
|
Adhd - [Attention Deficit Hyperactivity Disorder]
|
Hyperkinetic Disorders
|
|
Disorder Of Activity And Attention With Hyperkinesia
|
Attention Deficit Syndrome With Hyperactivity
|
|
|
| Childhood Disintegrative Disease |
|
Childhood Disintegrative Disorder
|
Disintegrative Psychosis
|
|
Heller'S Syndrome
|
Symbiotic Psychosis
|
|
Dementia Infantilis
|
Heller Syndrome
|
|
Shared Paranoid Disorder
|
|
|
| Pitt-Hopkins-Like Syndrome 1 |
|
Cortical Dysplasia-Focal Epilepsy Syndrome
|
CDFES
|
|
PTHSL1
|
Cdfe Syndrome
|
|
Pitt-Hopkins Like Syndrome 1
|
Pitt-Hopkins-Like Syndrome-1
|
|
Cntnap2-Related Developmental And Epileptic Encephalopathy
|
Cntnap2-Related Dee
|
|
Mesh
|
D006985
|
|
Mesh
|
D008607
|
|
|
| Cataract 24 |
|
CTRCT24
|
Cataract 24, Anterior Polar
|
|
Cataract, Anterior Polar, 2
|
Ctaa2
|
|
Anterior Polar Cataract 2
|
Early-Onset Anterior Polar Cataract
|
|
Early-Onset Anterior Subcapsular Cataract
|
Anterior Polar Cataract 24
|
|
Cataract Anterior Polar
|
Cataract, Anterior Polar-2
|
|
Cataract, Anterior Polar
|
|
|
| Syndromic X-Linked Intellectual Disability |
|
X-Linked Syndromic Intellectual Disability
|
|
|
| Myotonic Disease |
|
Myotonic Disorders
|
Myotonic Syndrome
|
|
Symptomatic Myotonia
|
|
|
| Speech Disorder |
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Mucopolysaccharidosis, Type Ii |
|
Hunter Syndrome
|
Iduronate 2-Sulfatase Deficiency
|
|
Mucopolysaccharidosis Ii
|
Mps Ii
|
|
Mucopolysaccharidosis Type Ii
|
MPS2
|
|
Sulfoiduronate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Ii
|
|
Ids Deficiency
|
Sids Deficiency
|
|
I2s Deficiency
|
Mucopolysaccharidosis Type 2
|
|
Mucopolysaccharidosis Type 2, Severe Form
|
Deficiency Of Iduronate-2-Sulphatase
|
|
Hunter'S Syndrome
|
Mps Ii - Hunter Syndrome
|
|
Iduronate-2-Sulfatase Deficiency
|
Attenuated Mps
|
|
Mps 2
|
Severe Mps Ii
|
|
Mpsii
|
Mucopolysaccharidosis Type 2, Attenuated Form
|
|
Hunter Syndrome Type B
|
Iduronate 2-Sulfatase Deficiency Type B
|
|
Mps2b
|
Mpsiib
|
|
Mucopolysaccharidosis Type 2b
|
Mucopolysaccharidosis Type Ii, Attenuated Form
|
|
Mucopolysaccharidosis Type Iib
|
Hunter Syndrome Type A
|
|
Iduronate 2-Sulfatase Deficiency Type A
|
Mps2a
|
|
Mpsiia
|
Mucopolysaccharidosis Type 2a
|
|
Mucopolysaccharidosis Type Ii, Severe Form
|
Mucopolysaccharidosis Type Iia
|
|
Mucopolysaccharidosis 2
|
Hunters Syndrome
|
|
Iduronate 2-Sulphatase Deficiency
|
Iduronate Sulfatase Deficiency
|
|
Iduronate Sulphatase Deficiency
|
Sulfo-Iduronate Sulfatase Deficiency
|
|
Sulfoiduronidate Sulfatase Deficiency
|
Sulpho-Iduronate Sulphatase Deficiency
|
|
Sulphoiduronidate Sulphatase Deficiency
|
Mps2 - [Mucopolysaccharidosis 2]
|
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
|
Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
|
Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| Chromosomal Deletion Syndrome |
|
|
| Myotonic Dystrophy 2 |
|
Myotonic Dystrophy Type 2
|
Proximal Myotonic Myopathy
|
|
Promm
|
Ricker Syndrome
|
|
DM2
|
Dystrophia Myotonica 2
|
|
Myotonic Myopathy, Proximal
|
Myotonic Disorders
|
|
Dystrophia Myotonica Type 2
|
Proximal Myotonic Dystrophy
|
|
Ricker Disease
|
Myotonic Dystrophy, Type 2
|
|
Dystrophy, Myotonic, Type 2
|
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Kennedy Disease
|
Sbma
|
|
Spinal And Bulbar Muscular Atrophy
|
Kennedy'S Disease
|
|
X-Linked Spinal And Bulbar Muscular Atrophy
|
SMAX1
|
|
Kd
|
Kennedy Spinal And Bulbar Muscular Atrophy
|
|
Spinobulbar Muscular Atrophy
|
Bulbospinal Muscular Atrophy, X-Linked
|
|
Bulbospinal Neuronopathy, X-Linked Recessive
|
Xbsn
|
|
Spinal And Bulbar Muscular Atrophy Of Kennedy
|
Bulbospinal Muscular Atrophy
|
|
X-Linked Bulbospinal Amyotrophy
|
Bulbo-Spinal Atrophy, X-Linked
|
|
Spinal Bulbar Muscular Atrophy
|
X-Linked Bulbo-Spinal Atrophy
|
|
X-Linked Spinal Bulbar Muscular Atrophy
|
X-Linked Bsma
|
|
X-Linked Bulbospinal Muscular Atrophy
|
Spinal And Bulbar Muscular Atrophy X-Linked 1
|
|
Bulbospinal Muscular Atrophy X-Linked
|
Bulbospinal Neuronopathy X-Linked Recessive
|
|
Kennedy Disease)
|
Kennedy Syndrome
|
|
Atrophy, Muscular, Spinal And Bulbar, Kennedy Type
|
Atrophy, Muscular, Spinobulbar
|
|
Bulbospinal Neuronopathy
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Syndromic Intellectual Disability |
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Spinocerebellar Ataxia 1 |
|
Spinocerebellar Ataxia Type 1
|
SCA1
|
|
Olivopontocerebellar Atrophy I
|
Opca1
|
|
Opca4
|
Menzel Type Opca
|
|
Schut-Haymaker Type Opca
|
Spinocerebellar Atrophy I
|
|
Opca I
|
Olivopontocerebellar Atrophy Iv
|
|
Opca Iv
|
Cerebelloparenchymal Disorder I
|
|
Cpd1
|
Olivopontocerebellar Atrophy 1
|
|
Cerebelloparenchymal Disorder 1
|
Olivopontocerebellar Atrophy 4
|
|
Spinocerebellar Atrophy 1
|
Type 1 Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxia-1
|
Ataxia, Spinocerebellar, Type 1
|
|
|
| Meier-Gorlin Syndrome 2 |
|
MGORS2
|
Meier-Gorlin Syndrome, Type 2
|
|
|
| Epilepsy, Idiopathic Generalized 9 |
|
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
|
EIG9
|
|
Epilepsy, Juvenile Myoclonic 6
|
Idiopathic Generalized Epilepsy 9
|
|
Epilepsy, Juvenile Myoclonic, Susceptibility To, 6
|
Susceptibility To Idiopathic Generalized Epilepsy 9
|
|
Juvenile Myoclonic Epilepsy 6
|
EJM6
|
|
Susceptibility To Juvenile Myoclonic Epilepsy 6
|
Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9
|
|
|
| Spinocerebellar Ataxia, X-Linked 3 |
|
Scax3
|
X-Linked Spinocerebellar Ataxia 3
|
|
X-Linked Ataxia-Deafness Syndrome
|
X-Linked Spinocerebellar Ataxia Type 3
|
|
Ataxia-Deafness Syndrome, X-Linked
|
Spinocerebellar Ataxia X-Linked Type 3
|
|
Ataxia-Deafness Syndrome X-Linked
|
X-Linked Ataxia-Hearing Loss Syndrome
|
|
Spinocerebellar Ataxia, X-Linked, 3
|
|
|
| Spinocerebellar Ataxia, X-Linked 4 |
|
Scax4
|
X-Linked Spinocerebellar Ataxia 4
|
|
X-Linked Ataxia-Dementia Syndrome
|
X-Linked Spinocerebellar Ataxia Type 4
|
|
Ataxia-Dementia Syndrome, X-Linked
|
Spinocerebellar Ataxia X-Linked Type 4
|
|
Ataxia-Dementia Syndrome X-Linked
|
Spinocerebellar Ataxia, X-Linked, 4
|
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
|
Autosomal Dominant Opitz G/Bbb Syndrome
|
|
Catch22
|
Cayler Cardiofacial Syndrome
|
|
Conotruncal Anomaly Face Syndrome
|
Digeorge Syndrome
|
|
Sedlackova Syndrome
|
Shprintzen Syndrome
|
|
Velocardiofacial Syndrome
|
22q11.2 Distal Deletion Syndrome
|
|
Distal 22q11.2 Microdeletion Syndrome
|
22q11.2ds
|
|
Vcfs
|
Velo-Cardio-Facial Syndrome
|
|
Distal Chromosome 22q11.2 Deletion Syndrome
|
Chromosome 22q11.2 Deletion Syndrome Distal
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Deletion 22q11.2 Syndrome
|
|
22q11ds
|
Catch 22
|
|
Digeorge Sequence
|
Microdeletion 22q11.2
|
|
Monosomy 22q11
|
Takao Syndrome
|
|
Distal Del(22)(Q11.2)
|
Distal Monosomy 22q11.2
|
|
Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
|
|
|
| Epilepsy, Idiopathic Generalized 2 |
|
EIG2
|
Epilepsy, Idiopathic Generalized, Susceptibility To, 2
|
|
Idiopathic Generalized Epilepsy 2
|
Epilepsy, Idiopathic Generalized Locus On Chromosome 14
|
|
Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14
|
|
|
| Spinocerebellar Ataxia 8 |
|
Spinocerebellar Ataxia Type 8
|
SCA8
|
|
Ataxia, Spinocerebellar, Type 8
|
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
MRXSBL
|
Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
|
|
X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance
|
Mental Retardation, X-Linked 60, Formerly
|
|
Mrx60, Formerly
|
Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type
|
|
Mrx60
|
Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
|
|
|
| Psychotic Disorder |
|
Psychotic Disorders
|
Mental Or Behavioural Disorder
|
|
Psychotic
|
Mental Disorders
|
|
|
| Specific Language Impairment |
|
Language Impairment, Specific
|
|
|
| Orthostatic Intolerance |
|
Mitral Valve Prolapse
|
Neurocirculatory Asthenia
|
|
Mitral Valve Prolapse Syndrome
|
Irritable Heart
|
|
Systolic Click-Murmur Syndrome
|
Soldiers Heart
|
|
Cardiovascular Malfunction Arising From Mental Factors
|
Cardiovascular Neurosis
|
|
Da Costa'S Syndrome
|
Krishaber'S Disease
|
|
Barlow'S Syndrome
|
Floppy Mitral Valve
|
|
Mitral Leaflet Syndrome
|
Myxomatous Mitral Valve Prolapse
|
|
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency
|
Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
|
|
Orthostatic Intolerance Due To Net Deficiency
|
Pots Due To Net Deficiency
|
|
OI
|
Intolerance, Orthostatic
|
|
Mitral Valve Prolapse, Familial, X-Linked
|
Ballooning Mitral Valve
|
|
Barlow Syndrome
|
Flail Mitral Leaflet
|
|
Myxomatous Mitral Valve
|
Mitral Valve Prolapse-Click Syndrome
|
|
Prolapsing Mitral Valve Leaflet Syndrome
|
Billowing Mitral Valve Leaflet
|
|
Posterior Mitral Leaflet Deformity
|
Ballooning Posterior Leaflet Syndrome
|
|
Blue Valve Syndrome
|
Floppy Mitral Valve Syndrome
|
|
Mitral Valvular Prolapse
|
Systolic Click Syndrome
|
|
|
| Sotos Syndrome |
|
Cerebral Gigantism
|
SOTOS
|
|
Chromosome 5q35 Deletion Syndrome
|
Sotos Syndrome 1, Formerly
|
|
Sotos1, Formerly
|
Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
|
|
Sotos Sequence
|
Sotos' Syndrome
|
|
Sotos1
|
Sotos Syndrome 1
|
|
|
| Velocardiofacial Syndrome |
|
Shprintzen Syndrome
|
VCFS
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Vcf Syndrome
|
|
Shprintzen Vcf Syndrome
|
Vcf-Velocardiofacial Syndrome
|
|
Velo-Cardio-Facial Syndrome
|
Digeorge Syndrome
|
|
22q11 Deletion Syndrome
|
Conotruncal Anomaly Face Syndrome
|
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
|
X-Linked Non-Specific Intellectual Disability
|
|
|
| Disorder Of Sexual Development |
|
Disorder Of Sex Development
|
Disorders Of Sex Development
|
|
Sex Development Disorder
|
Sex Differentiation Disease
|
|
Dsd
|
Sex Differentiation Disorders
|
|
|
| Familial Adult Myoclonic Epilepsy |
|
Benign Adult Familial Myoclonus Epilepsy
|
Bafme
|
|
Benign Adult Familial Myoclonic Epilepsy
|
Fame
|
|
Familial Cortical Myoclonic Tremor And Epilepsy
|
Fcmte
|
|
Adcme
|
Autosomal Dominant Cortical Myoclonus And Epilepsy
|
|
Fam
|
Epilepsy, Myoclonic, Familial Adult
|
|
Epilepsy, Myoclonic, Benign Adult Familial, Type 2
|
|
|
| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
|
Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Williams-Beuren Syndrome |
|
Williams Syndrome
|
WBS
|
|
Wms
|
Deletion 7q11.23
|
|
Monosomy 7q11.23
|
Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
|
Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
|
Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
|
Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
Rolandic Epilepsy
|
Benign Rolandic Epilepsy
|
|
Epilepsy, Rolandic
|
Bcects
|
|
Benign Childhood Epilepsy With Centrotemporal Spike
|
Sylvan Seizures
|
|
Becrs
|
Bects
|
|
Bre
|
Benign Epilepsy Of Childhood With Centrotemporal Spikes
|
|
Benign Familial Epilepsy Of Childhood With Rolandic Spikes
|
Centrotemporal Epilepsy
|
|
|
| Chromosome 1p36 Deletion Syndrome |
|
1p36 Deletion Syndrome
|
Deletion 1p36
|
|
Monosomy 1p36
|
Subtelomeric 1p36 Deletion
|
|
Monosomy 1p36 Syndrome
|
Distal Monosomy 1p36
|
|
Del(1)(P36)
|
Deletion 1pter
|
|
Monosomy 1pter
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Migraine With Or Without Aura 1 |
|
Migraine
|
Migraine With Or Without Aura, Susceptibility To, 1
|
|
Migraine Disorder
|
Migraine Variant
|
|
Migraines
|
Migraine Disorders
|
|
Mgr1
|
Mgau
|
|
Ma
|
Migraine With Or Without Aura
|
|
Classic Migraine
|
Common Migraine
|
|
Disorder, Migraine
|
Headache Migraine
|
|
Headache Migrainous
|
Migraine Headache
|
|
Migraine Syndrome
|
Headache Including Migraine
|
|
Migraine, Susceptibility To
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| 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
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
