Diseases |
Alias |
|
Rett Syndrome |
Atypical Rett Syndrome
|
RTT
|
Rett Disorder
|
Rts
|
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
Rett Syndrome, Atypical
|
Rett'S Disorder
|
Rett Syndrome Variant
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
Rett'S Syndrome
|
Atypical Rtt
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
|
Rett Syndrome Preserved Speech Variant
|
Rett Syndrome Zappella Variant
|
Rett Syndrome, Zappella Variant
|
|
|
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
Severe Congenital Encephalopathy Due To Mecp2 Mutation
|
Severe Neonatal-Onset Encephalopathy With Microcephaly
|
Encephalopathy, Neonatal Severe
|
Neonatal Severe Encephalopathy Due To Mecp2 Mutations
|
Mecp2-Related Severe Neonatal Encephalopathy
|
Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy
|
Severe Neonatal Encephalopathy Due To Mecp2 Mutations
|
ENS-MECP2
|
Encephalopathy, Neonatal, Severe
|
|
|
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
Mental Retardation, X-Linked, Syndromic 13
|
MRXS13
|
Mental Retardation, X-Linked 79
|
Mrx79
|
Mental Retardation, X-Linked 16
|
Mrx16
|
Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism
|
Ppmx
|
Mental Retardation, X-Linked, With Spasticity
|
Intellectual Developmental Disorder, X-Linked Syndromic 13
|
Mrxppm
|
Mental Retardation, X-Linked, Syndromic, Type 13
|
Ppm-X Syndrome
|
|
|
Autism X-Linked 3 |
Autism, Susceptibility To, X-Linked 3
|
AUTSX3
|
Autism Susceptibility, X-Linked 3
|
Autism, X-Linked 3
|
Autism, Susceptibility To, X-Linked, Type 3
|
|
|
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
Mecp2 Duplication Syndrome
|
Lubs X-Linked Mental Retardation Syndrome
|
MRXSL
|
Trisomy Xq28
|
Mental Retardation, X-Linked, With Recurrent Respiratory Infections
|
Proximal Xq28 Duplication Syndrome
|
Intellectual Developmental Disorder, X-Linked Syndromic, Lubs Type
|
Lubs X-Linked Intellectual Disability Syndrome
|
Intellectual Disability, X-Linked, Lubs Type
|
Xlmr Syndrome, Lubs Type
|
X-Linked Intellectual Disability Syndrome, Lubs Type
|
|
|
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
Mrxs13
|
Lindsay-Burn Syndrome
|
Ppm-X
|
Ppm-X Syndrome
|
Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism
|
Mental Retardation, X-Linked, Syndromic 13
|
X-Linked Mental Retardation 79
|
X-Linked Mental Retardation With Spasticity
|
Intellectual Deficit, X-Linked - Psychosis - Macroorchidism
|
Intellectual Disability Psychosis Macroorchidism
|
Intellectual Disability With Psychosis, Pyramidal Signs, And Macroorchidism
|
Intellectual Disability, X-Linked, Syndromic 13
|
Ppmx
|
X-Linked Mental Retardation, Syndromic 13
|
|
|
Non-Syndromic X-Linked Intellectual Disability |
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
X-Linked Non-Specific Intellectual Disability
|
|
|
Syndromic X-Linked Intellectual Disability Lubs Type |
Lubs X-Linked Mental Retardation Syndrome
|
Mecp2 Duplication Syndrome
|
Mental Retardation, X-Linked, Syndromic, Lubs Type
|
Mental Retardation, X-Linked, With Recurrent Respiratory Infections
|
Mrxsl
|
X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome
|
Mental Retardation, X-Linked Syndromic, Lubs Type
|
|
|
Bruxism |
Sleep Bruxism
|
Sleep-Related Bruxism
|
Bruxism - Teeth Grinding
|
Grinding Teeth
|
Sleep Related Bruxism
|
Teeth Grinding
|
Sleep Related Teeth Grinding
|
|
|
Stereotypic Movement Disorder |
Stereotypy Habit Disorder
|
Stereotyped Repetitive Movements
|
Stereotyped Disorder
|
Stereotypes Nos
|
Stereotype Habit Disorder
|
|
|
Angelman Syndrome |
AS
|
Happy Puppet Syndrome
|
Happy Puppet Syndrome, Formerly
|
Puppetlike Syndrome
|
|
|
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
|
|
|
Motor Stereotypies |
|
|
Nervous System Disease |
Abnormality Of The Nervous System
|
Nervous System Diseases
|
Nervous System Disorder
|
|
|
Congenital Nervous System Abnormality |
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
Pervasive Developmental Disorder |
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
Autism Spectrum Disorders
|
|
|
Facial Hypertrichosis |
|
|
Laryngomalacia |
Congenital Laryngomalacia
|
Congenital Laryngeal Stridor
|
Laryngomalacia Congenital
|
Floppy Epiglottis
|
|
|
Learning Disability |
Learning Disabilities
|
Learning Disorders
|
Academic Skill Disorder
|
Learning Disorder
|
|
|
Sick Sinus Syndrome |
Sinus Node Dysfunction
|
Sinus Node Disease
|
Sinus Node Infection
|
Snd
|
Sss
|
Snd - [Sinus Node Dysfunction]
|
Sinoatrial Node Dysfunction
|
Sss - [Sick Sinus Syndrome]
|
Sick Sinus
|
Sick Sinus Tachycardia
|
|
|
Focal Epilepsy |
Partial Epilepsy
|
Epilepsies, Partial
|
Localisation-Related Epilepsy
|
|
|
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
|
|
|
Epilepsy |
Epilepsy Syndrome
|
Epileptic Syndrome
|
Epilepsies
|
Symptomatic Epilepsies
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
Gene Duplication Disease |
Gene Duplication Syndrome
|
|
|
Dystonia |
Dystonic Disease
|
Dystonic Disorder
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
Gait Apraxia |
|
|
Childhood Disintegrative Disease |
Childhood Disintegrative Disorder
|
Disintegrative Psychosis
|
Heller'S Syndrome
|
Symbiotic Psychosis
|
Dementia Infantilis
|
Heller Syndrome
|
Shared Paranoid Disorder
|
|
|
Microcephaly |
Microencephaly
|
Microcephalus
|
Microcephalic
|
Nanocephaly
|
Congenital Microcephaly
|
Brain Hypoplasia
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
Micrencephalon
|
Micrencephaly
|
|
|
Asperger Syndrome |
Asperger Disorder
|
Asperger Syndrome, Susceptibility To
|
|
|
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
Icf Syndrome
|
Immunodeficiency Syndrome, Variable
|
Ciid
|
Centromeric Instability, Immunodeficiency Syndrome
|
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16
|
Icf
|
|
|
Autism |
Autistic Disorder
|
Autism Susceptibility 1
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
Kanner'S Syndrome
|
Autistic
|
|
|
Kbg Syndrome |
KBGS
|
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
|
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
|
Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia 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
|
|
|
Encephalopathy |
Brain Diseases
|
Encephalopathies
|
Toxic Encephalopathy
|
Toxic Brain Fever
|
Toxic Brain Inflammation
|
Toxic Brain Stem Inflammation
|
Toxic Cerebral Fever
|
Toxic Cerebrospinal Fever
|
Toxic Cerebrospinal Inflammation
|
Encephalopathy Nec
|
Encephalopathy Nos
|
Encephalopathy Disease
|
Encephalopathy Syndrome
|
|
|
Spasticity |
|
|
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
|
|
|
Hypertelorism |
Eyes Wide Apart
|
Eyes Widely Set
|
Hypertelorism Of Orbit
|
Ocular Hypertelorism
|
Orbital Separation Excessive
|
|
|
Echolalia |
|
|
Systemic Lupus Erythematosus |
Lupus Nephritis
|
SLE
|
Disseminated Lupus Erythematosus
|
Systemic Lupus Erythematosus, Susceptibility To
|
Lupus Erythematosus, Systemic
|
Lupus Nephritis, Susceptibility To
|
Libman-Sacks Disease
|
Systemic Lupus Erythematosus Susceptibility To
|
Sle - Lupus Erythematosus, Systemic
|
Le Syndrome
|
Lupus
|
Lupus Erythematosus Systemic
|
Lupus Erythematosus, Systemic, Susceptibility To
|
Lupus Vulgaris
|
Lupus Erythematosus, Discoid
|
Lupus Erythematosus
|
Systemic Lupus Erythematosus Nos
|
Sle - [Systemic Lupus Erythematosus]
|
|
|
Neurodegeneration With Brain Iron Accumulation |
Nbia
|
Neurodegeneration With Brain Iron Accumulation Disorders
|
Neurodegeneration, With Brain Iron Accumulation
|
|
|
Meningoencephalitis |
Acquired Toxoplasmal Meningoencephalitis
|
Meningoencephalitis Due To Acquired Toxoplasmosis
|
Meningoencephalitis Due To Toxoplasmosis
|
Toxoplasma Meningoencephalitis
|
|
|
Hypogonadotropic Hypogonadism |
Klinefelter Syndrome
|
Klinefelter'S Syndrome
|
Xxy Syndrome
|
Xxy Trisomy
|
Hypogonadotropism
|
47, Xxy
|
Congenital Idiopathic Hypogonadotropic Hypogonadism
|
Isolated Congenital Gonadotropin Deficiency
|
47,Xxy Syndrome
|
47, Xxy Syndrome
|
Klinefelters Syndrome
|
Hypogonadism
|
Klinefelter Syndrome In Males
|
Klinefelter Syndrome, Unspecified
|
Klinefelter Syndrome Karyotype 47, Xxy
|
|
|
Alcohol-Related Neurodevelopmental Disorder |
Static Encephalopathy
|
Arnd
|
Encephalopathy, Static
|
Alcohol Related Neurodevelopmental Disorder
|
|
|
Gastroesophageal Reflux |
Gastroesophageal Reflux Disease
|
Gerd
|
GER
|
Gastroesophageal Reflux, Pediatric
|
Acid Reflux
|
Gastresophageal Reflux
|
Gastro-Esophageal Reflux
|
Gerd - Gastro-Esophageal Reflux Disease
|
|
|
Specific Developmental Disorder |
|
|
Down Syndrome |
Trisomy 21
|
Complete Trisomy 21 Syndrome
|
Down'S Syndrome
|
Trisomy 21 Syndrome
|
Down'S Syndrome - Trisomy 21
|
Downs Syndrome
|
G Trisomy
|
47,Xx,+21
|
47,Xy,+21
|
Trisomy G
|
Down Syndrome, Susceptibility To
|
Chromosome 21 Trisomy
|
Trisomy 21 Nos
|
Abnormal Autosomes 21
|
|
|
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
Atr-X Syndrome
|
Atr, Nondeletion Type
|
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
|
Atrx Syndrome
|
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type
|
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
|
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome
|
Xlmr Hypotonic Face Syndrome
|
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
|
Alpha Thalassemia X-Linked Mental Retardation Syndrome
|
Alpha Thalassemia/Mental Retardation, X-Linked
|
Alpha-Thalassemia X-Linked Mental Retardation Syndrome
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
|
X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
|
Xlmr-Hypotonic Face Syndrome
|
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
|
|
|
Hypotonia |
|
|
Pitt-Hopkins Syndrome |
PTHS
|
Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
|
Mental Retardation, Syndromal, With Intermittent Hyperventilation
|
Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
|
Pitt Hopkins Syndrome
|
Phs
|
Encephalopathy Severe Epileptic With Autonomic Dysfunction
|
|
|
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
|
|
|
Scoliosis |
|
|
Atypical Autism |
|
|
Chromosome 16p13.3 Deletion Syndrome, Proximal |
Rubinstein-Taybi Syndrome
|
Broad Thumb-Hallux Syndrome
|
Chromosome 16p13.3 Deletion Syndrome
|
Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
|
Rubinstein Syndrome
|
Broad Thumbs-Halluces Syndrome
|
Rsts
|
Rubinstein-Taybi Deletion Syndrome
|
Rsts Deletion Syndrome
|
Proximal Chromosome 16p13.3 Deletion Syndrome
|
16p13.3 Deletion Syndrome
|
Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
|
Rts
|
|
|
Fetal Alcohol Spectrum Disorder |
Fetal Alcohol Spectrum Disorders
|
Fetal Alcohol Syndrome
|
|
|
Kleefstra Syndrome |
9q34.3 Microdeletion Syndrome
|
9q Subtelomeric Deletion Syndrome
|
9q- Syndrome
|
Chromosome 9q Deletion Syndrome
|
9q34.3 Deletion Syndrome
|
9qstds
|
Chromosome 9q34.3 Deletion Syndrome
|
Chromosome 9, Trisomy 9q
|
|
|
Developmental And Epileptic Encephalopathy 17 |
DEE17
|
Epileptic Encephalopathy, Early Infantile, 17
|
Eiee17
|
Developmental And Epileptic Encephalopathy, 17
|
Early Infantile Epileptic Encephalopathy 17
|
Developmental And Epileptic Encephalopathy, Type 17
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Christianson Syndrome |
X-Linked Angelman-Like Syndrome
|
X-Linked Intellectual Disability, South African Type
|
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome
|
Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
|
Mental Retardation, X-Linked Syndromic, Christianson Type
|
Mrxsch
|
Angelman-Like Syndrome X-Linked
|
Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome
|
Intellectual Disability X-Linked Syndromic Christianson Type
|
Mrxs Christianson
|
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy
|
Angelman-Like Syndrome, X-Linked
|
Intellectual Deficit, X-Linked, South African Type
|
Mental Retardation X-Linked, South African Type
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
|
|
Disease Of Mental Health |
Mental Health
|
Mental Disorders
|
|
|
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
Mental Retardation, X-Linked, Syndromic 32
|
Mrxs32
|
|
|
Partington Syndrome |
X-Linked Reticulate Pigmentary Disorder
|
PRTS
|
Partington X-Linked Mental Retardation Syndrome
|
Mrxs1
|
Mrx36
|
Intellectual Developmental Disorder, X-Linked, Syndromic 1
|
Partington Disease
|
Pdr
|
Partington-Mulley Syndrome
|
Russell-Silver Syndrome, X-Linked
|
Mental Retardation, X-Linked, Syndromic 1
|
Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
Mental Retardation, X-Linked 36
|
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
|
X-Linked Russell-Silver Syndrome
|
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
|
Intellectual Disability, X-Linked, Syndromic 1
|
Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
Partington X-Linked Intellectual Disability Syndrome
|
X-Linked Intellectual Deficit-Dystonia-Dysarthria
|
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures
|
Familial Cutaneous Amyloidosis
|
X-Linked Cutaneous Amyloidosis
|
Xlpdr
|
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome
|
Pigmentary Disorder, Reticulate, With Systemic Manifestations
|
|
|
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
|
|
|
Chromosomal Duplication Syndrome |
|
|
Mowat-Wilson Syndrome |
MOWS
|
Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
|
Hirschsprung Disease-Mental Retardation Syndrome
|
Mowat-Wilson Syndrome Due To Monosomy 2q22
|
Hirschsprung Disease Mental Retardation Syndrome
|
Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
|
Hirschsprung Disease - Intellectual Disability Syndrome
|
Hirschsprung Disease Intellectual Disability Syndrome
|
Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease
|
Mws
|
Hirschsprung Disease-Intellectual Disability Syndrome
|
Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
|
Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)
|
Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
|
Mowat-Wilson Syndrome Due To 2q22 Microdeletion
|
Mowat-Wilson Syndrome Due To Del(2)Q(22)
|
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
|
Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
|
|
|
Otopalatodigital Syndrome, Type I |
Otopalatodigital Syndrome Type 1
|
Taybi Syndrome
|
OPD1
|
Opd Syndrome 1
|
Oto-Palato-Digital Syndrome Type 1
|
Opd I Syndrome
|
Oto-Palato-Digital Syndrome, Type I
|
Otopalatodigital Syndrome Type I
|
Opd Syndrome
|
Cranioorodigital Syndrome
|
Faciopalatoosseous Syndrome
|
Fpo
|
Opd Syndrome, Type 1
|
Otopalatodigital Syndrome 1
|
|
|
Sudden Infant Death Syndrome |
SIDS
|
Sudden Infant Death Syndrome, Susceptibility To
|
Cot Death
|
Crib Death
|
Sudden Death Of Nonspecific Cause In Infancy
|
Sudden Infant Death
|
Death, Sudden, Syndrome, Infant
|
|
|
Coffin-Lowry Syndrome |
CLS
|
Coffin Syndrome 1
|
Coffin Syndrome
|
Intellectual Disability With Osteocartilaginous Abnormalities
|
Dwarfism, Lean Spastic Type
|
Lean Spastic Dwarfism
|
Mental Retardation With Osteocartilaginous Abnormalities
|
Coffin Lowry Syndrome
|
|
|
Nescav Syndrome |
NESCAVS
|
Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment
|
Mrd9
|
Intellectual Disability, Autosomal Dominant 9
|
Mental Retardation, Autosomal Dominant 9, Formerly
|
Mrd9, Formerly
|
Autosomal Dominant Intellectual Disability 9
|
Autosomal Dominant Non-Syndromic Intellectual Disability 9
|
Mental Retardation, Autosomal Dominant 9
|
|
|
Anxiety |
Anxiety Disorder
|
Anxiety Disorders
|
Anxiety State
|
Anxieties
|
Anxiety Neurosis
|
|
|
Timothy Syndrome |
Long Qt Syndrome With Syndactyly
|
TS
|
Lqt8
|
Long Qt Syndrome 8
|
Long Qt Syndrome Type 8
|
Long Qt Syndrome-Syndactyly Syndrome
|
|
|
Potocki-Lupski Syndrome |
PTLS
|
Chromosome 17p11.2 Duplication Syndrome
|
17p11.2 Microduplication Syndrome
|
Duplication 17p11.2 Syndrome
|
Trisomy 17p11.2
|
Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
|
17p11.2 Duplication Syndrome
|
Dup(17)(P11.2p11.2)
|
Pls
|
Chromosome 17, Trisomy 17p11 2
|
|
|
Developmental And Epileptic Encephalopathy 47 |
DEE47
|
Epileptic Encephalopathy, Early Infantile, 47
|
Eiee47
|
Developmental And Epileptic Encephalopathy, 47
|
Early Infantile Epileptic Encephalopathy 47
|
|
|
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy
|
ADCADN
|
Autosomal Dominant Cerebellar Ataxia, Deafness, And Narcolepsy
|
Adca-Dn Syndrome
|
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
|
Adca-Dn
|
Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome
|
Ataxia, Cerebellar, Deafness, And Narcolepsy, Autosomal Dominant
|
|
|
Chromosomal Disease |
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
Bone Structure Disease |
|
|
Syndromic X-Linked Intellectual Disability |
X-Linked Syndromic Intellectual Disability
|
|
|
Valproate Embryopathy |
Fetal Valproate Syndrome
|
Fetal Valproic Acid Syndrome
|
Fvs
|
Valproic Acid Embryopathy
|
Fetal Valproate Spectrum Disorder
|
Valproate Embryopathy, Susceptibility To
|
Foetal Valproate Syndrome
|
Foetal Valproic Acid Syndrome
|
Susceptibility To Valproate Embryopathy
|
Valproic Acid Antenatal Infection
|
|
|
Chromosomal Deletion Syndrome |
|
|
Pelizaeus-Merzbacher Disease |
PMD
|
HLD1
|
Pelizaeus-Merzbacher Brain Sclerosis
|
Leukodystrophy, Hypomyelinating, 1
|
Diffuse Familial Brain Sclerosis
|
Pelizaeus Merzbacher Brain Sclerosis
|
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type
|
Cockayne-Pelizaeus-Merzbacher Disease
|
Hypomyelinating Leukodystrophy 1
|
Leukodystrophy, Sudanophilic
|
Pelizaeus Merzbacher Disease
|
Hypomyelinating Leukodystrophy, 1
|
Sudanophilic Leukodystrophy
|
Pelizaeus-Merzbacher Disease, Connatal Form
|
Connatal Pmd
|
Pelizaeus-Merzbacher Disease Type Ii
|
Severe Pmd
|
Null Syndrome
|
Plp1 Null Syndrome
|
Pelizaeus-Merzbacher Disease, Null Syndrome
|
Brain Sclerosis Diffuse Familial
|
Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
|
Leukodystrophy Hypomyelinating 1
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
|
Developmental And Epileptic Encephalopathy 2 |
Epileptic Encephalopathy, Early Infantile, 2
|
DEE2
|
Eiee2
|
Issx2
|
Developmental And Epileptic Encephalopathy, 2
|
Infantile Spasm Syndrome, X-Linked 2
|
Early Infantile Epileptic Encephalopathy 2
|
X-Linked Infantile Spasm Syndrome 2
|
Atypical Rett Syndrome Cdkl5-Related
|
Atypical Rett Syndrome Hanefeld Variant
|
Infantile Spasm Syndrome X-Linked 2
|
Rett Syndrome Early-Onset Seizure Variant
|
Rett Syndrome Variant With Infantile Spasms
|
Encephalopathy, Epileptic, Early Infantile, Type 2
|
|
|
Fetal Alcohol Syndrome |
Fetal Alcohol Spectrum Disorders
|
Arbd
|
Arnd
|
Alcohol-Related Birth Defects
|
Alcohol-Related Neurodevelopmental Disorder
|
Fas
|
Fasd
|
Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk
|
Alcohol Related Birth Defect
|
Alcohol Related Neurodevelopmental Disorder
|
Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk
|
Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk
|
Dysmorphism Due To Alcohol
|
Fetal Etoh Syndrome
|
|
|
Cowden Syndrome 1 |
Bannayan-Riley-Ruvalcaba Syndrome
|
Pten Hamartoma Tumor Syndrome
|
Lhermitte-Duclos Disease
|
Bannayan-Zonana Syndrome
|
Phts
|
Riley-Smith Syndrome
|
Bzs
|
Ruvalcaba-Myhre-Smith Syndrome
|
Multiple Hamartoma Syndrome
|
Rmss
|
Brrs
|
Dysplastic Gangliocytoma Of The Cerebellum
|
CWS1
|
Cs
|
Cd
|
Mham
|
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
Macrocephaly Multiple Lipomas And Hemangiomata
|
Bannayan-Ruvalcaba-Riley Syndrome
|
Myhre-Riley-Smith Syndrome
|
LDD
|
Cerebelloparenchymal Disorder Vi
|
Hamartoma Syndrome, Multiple
|
Bbrs
|
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
|
Macrocephaly, Multiple Lipomas, And Hemangiomata
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomas
|
Ruvalcaba -Myhre-Smith Syndrome
|
Ruvalcaba-Myhre Syndrome
|
Cowden Disease
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomata
|
Cerebellar Granule Cell Hypertrophy And Megalencephaly
|
Cpd6
|
Pten Hamartoma Tumor Syndromes
|
Cowden Syndrome, Type 1
|
|
|
Hyperoxaluria, Primary, Type I |
Primary Hyperoxaluria Type 1
|
HP1
|
Glycolic Aciduria
|
Alanine-Glyoxylate Aminotransferase Deficiency
|
Hepatic Agt Deficiency
|
Oxalosis I
|
Primary Hyperoxaluria, Type I
|
Serine:Pyruvate Aminotransferase Deficiency
|
Hyperoxaluria, Primary, Type 1
|
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
|
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency
|
Serine Pyruvate Aminotransferase Deficiency
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Oxalosis 1
|
Hyperoxaluria Primary 1
|
Hyperoxaluria Primary Type I
|
Ph1
|
Primary Hyperoxaluria Type I
|
Oxalosis Type 1
|
2-Oxoglutarate Glyoxylate Carboligase Deficiency
|
|
|
Peho Syndrome |
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy
|
Infantile Cerebellooptic Atrophy
|
PEHO
|
Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
|
Progressive Encephalopathy-Optic Atrophy Syndrome
|
|
|
Schizophrenia |
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
Schizophrenia-1
|
Dementia Praecox
|
Schizophrenia 1
|
|
|
Syndromic Intellectual Disability |
|
|
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
|
|
|
Primary Hyperoxaluria |
Hyperoxaluria
|
Hyperoxaluria, Primary
|
Oxalosis
|
Primary Oxalosis
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
Glyceric Aciduria
|
Glycolic Aciduria
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
Primary Hyperoxaluria, Type I
|
|
|
Kleefstra Syndrome 1 |
9q Subtelomeric Deletion Syndrome
|
KLEFS1
|
Chromosome 9q34.3 Deletion Syndrome
|
9q- Syndrome
|
9q34 Deletion Syndrome
|
Kleefstra Syndrome Due To 9q34 Microdeletion
|
Kleefstra Syndrome
|
9q-Syndrome
|
9qstds
|
Kleefstra Syndrome Due To 9q Subtelomeric Deletion
|
Kleefstra Syndrome Due To Del(9)(Q34)
|
Kleefstra Syndrome Due To Monosomy 9q34
|
Chromosome 9q Subtelomeric Deletion Syndrome
|
Kleefstra Syndrome, Type 1
|
|
|
Alpha-Thalassemia |
Alpha Thalassemia
|
Alpha Thalassaemia
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
Thalassemias, Alpha-
|
A-Thalassemia
|
Α-Thalassemia
|
A-THAL
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
Opitz-Kaveggia Syndrome |
Fg Syndrome
|
Fgs1
|
Fgs
|
Keller Syndrome
|
OKS
|
Fg Syndrome 1
|
Fg Syndrome Type 1
|
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
|
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
|
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
|
|
|
Atrial Septal Defect 8 |
ASD8
|
Atrial Heart Septal Defect 8
|
Septal Defect, Atrial, Type 8
|
|
|
Dravet Syndrome |
Severe Myoclonic Epilepsy Of Infancy
|
Severe Myoclonic Epilepsy In Infancy
|
Smei
|
Epileptic Encephalopathy, Early Infantile, 6
|
DRVT
|
Developmental And Epileptic Encephalopathy 6a
|
Dee6a
|
Eiee6
|
Developmental And Epileptic Encephalopathy, 6
|
Dee6
|
Developmental And Epileptic Encephalopathy 6
|
Early Infantile Epileptic Encephalopathy 6
|
Myoclonic Epilepsy, Severe, Of Infancy
|
Sme
|
Severe Myoclonus Epilepsy Of Infancy
|
Borderline Smei
|
Smeb
|
Smeb-M
|
Smeb-O
|
Smeb-Sw
|
Smei-Borderland
|
Smei-Borderland More Than One Feature
|
Smei-Borderland-Myoclonic Seizures
|
Smei-Borderland-Spike Wave
|
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures
|
ICEGTC
|
Infantile Severe Myoclonic Epilepsy
|
Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
|
|
|
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a |
MLC2A
|
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a
|
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a
|
|
|
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
MRD30
|
Mental Retardation, Autosomal Dominant 30
|
Intellectual Developmental Disorder, Autosomal Dominant 30
|
Autosomal Dominant Non-Syndromic Intellectual Disability 30
|
Autosomal Dominant Intellectual Developmental Disorder 30
|
Autosomal Dominant Mental Retardation 30
|
Mental Retardation, Autosomal Dominant, Type 30
|
|
|
Myopathy |
Muscular Diseases
|
Myopathies
|
|
|
Noonan Syndrome 1 |
Noonan Syndrome
|
NS1
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
Lennox-Gastaut Syndrome |
Lennox Syndrome
|
Encephalopathy Of Childhood
|
Epileptic Encephalopathy Lennox-Gastaut Type
|
Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
|
Lgs
|
|
|
Early Myoclonic Encephalopathy |
Myoclonic Epilepsy
|
Myoclonic Seizure
|
Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
|
Epileptic Seizures, Myoclonic
|
Myoclonia Epileptica
|
Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
|
Developmental And Epileptic Encephalopathy 14 |
Malignant Migrating Partial Seizures Of Infancy
|
Eiee14
|
Epilepsy Of Infancy With Migrating Focal Seizures
|
Mmpsi
|
DEE14
|
Epileptic Encephalopathy, Early Infantile, 14
|
Early Infantile Epileptic Encephalopathy 14
|
Malignant Migrating Partial Epilepsy Of Infancy
|
Migrating Partial Epilepsy Of Infancy
|
Migrating Partial Seizures Of Infancy
|
Mmpei
|
Mpei
|
Mpsi
|
Malignant Migrating Focal Seizures Of Infancy
|
Migrating Partial Seizures In Infancy
|
Developmental And Epileptic Encephalopathy, 14
|
Encephalopathy, Epileptic, Early Infantile, Type 14
|
|
|
Syndromic X-Linked Intellectual Disability Type 10 |
Hsd10 Deficiency, Atypical Type
|
Hsd10 Disease, Atypical Type
|
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome
|
Mrxs10
|
Mental Retardation, X-Linked, Syndromic 10
|
|
|
Psychotic Disorder |
Psychotic Disorders
|
Mental Or Behavioural Disorder
|
Psychotic
|
Mental Disorders
|
|
|
Hypomyelinating Leukodystrophy |
Hld
|
Leukodystrophy, Hypomyelinating
|
|
|
Speech Disorder |
|
|
Congenital Central Hypoventilation Syndrome |
Cchs
|
Haddad Syndrome
|
Ondine Curse
|
Ondine Syndrome
|
Congenital Central Hypoventilation
|
Congenital Central Alveolar Hypoventilation Syndrome
|
Congenital Failure Of Autonomic Control
|
Ondine'S Curse
|
Primary Alveolar Hypoventilation
|
Ondine-Hirschsprung Disease
|
Central Congenital Hypoventilation Syndrome
|
Congenital Ondine Curse
|
Idiopathic Congenital Central Alveolar Hypoventilation
|
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
|
Ondine-Hirschsprung Syndrome
|
|
|
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
|
|
|
Cornelia De Lange Syndrome |
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
Brachmann-De Lange Syndrome
|
Cdls
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
Early Infantile Epileptic Encephalopathy |
Early Infantile Epileptic Encephalopathy With Burst-Suppression
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
Eiee
|
Early Infantile Epileptic Encephalopathy With Suppression-Bursts
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile
|
|
|
Developmental And Epileptic Encephalopathy |
Encephalopathy, Developmental And Epileptic
|
|
|
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
|
|
|
Childhood Absence Epilepsy |
Pyknolepsy
|
Petit Mal Epilepsy
|
Absence Seizures
|
Absence Seizure
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
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
|
|
|
Rasopathy |
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
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
|
|
|
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
|
|
|
Strabismus |
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
Strabismus 1
|
|
|
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
|
|
|
Hirschsprung Disease 1 |
Hirschsprung Disease
|
Aganglionic Megacolon
|
Hscr
|
Hirschsprung'S Disease
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
Mgc
|
Pelvirectal Achalasia
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
Macrocolon
|
Hscr 1
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
Hirschsprung Megacolon
|
|
|
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
|
|
|
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
|
|
|