| 疾病名称 |
别名 |
|
| Angelman Syndrome |
|
AS
|
Happy Puppet Syndrome
|
|
Happy Puppet Syndrome, Formerly
|
Puppetlike Syndrome
|
|
|
| Angelman Syndrome Due To A Point Mutation |
|
|
| Papilloma |
|
|
| Chromosome 15q11-Q13 Duplication Syndrome |
|
15q11q13 Microduplication Syndrome
|
Duplication 15q11-Q13 Syndrome
|
|
Autism Susceptibility 4
|
15q11-Q13 Duplication Syndrome
|
|
Dup15q Syndrome
|
Duplication/Inversion 15q11
|
|
Idic(15)
|
Inv Dup(15)
|
|
Inverted Duplication 15
|
Isodicentric Chromosome 15
|
|
Isodicentric Chromosome 15 Syndrome
|
Non-Distal Tetrasomy 15q
|
|
15q11q13 Duplication Syndrome
|
Dup(15)(Q11q13)
|
|
Trisomy 15q11q13
|
|
|
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
|
| Angelman Syndrome Due To Maternal 15q11q13 Deletion |
|
Angelman Syndrome Due To Maternal Monosomy 15q11q13
|
|
|
| Angelman Syndrome Due To Imprinting Defect In 15q11-Q13 |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Monocular Exotropia |
|
|
| 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
|
|
|
| Hypotonia |
|
|
| Kaufman Oculocerebrofacial Syndrome |
|
KOS
|
Blepharophimosis-Ptosis-Intellectual Disability Syndrome
|
|
Oculocerebrofacial Syndrome, Kaufman Type
|
Bpids
|
|
Blepharophimosis Ptosis Intellectual Disability Syndrome
|
Blepharophimosis-Ptosis-Intellectual Disability Syndrome
|
|
Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet
|
Bpid Syndrome
|
|
|
| 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
|
|
|
| Precocious Puberty, Central, 2 |
|
CPPB2
|
Central Precocious Puberty 2
|
|
Precocious Puberty, Central 2
|
Precocious Puberty, Central, Type 2
|
|
|
| Cervical Cancer |
|
Cervical Cancer, Somatic
|
Neoplasm Of Uterine Cervix
|
|
Cervix Cancer
|
Uterine Cervical Neoplasm
|
|
Cervical Neoplasm
|
Cervix Uteri Cancer
|
|
Tumor Of The Cervix Uteri
|
CERCA
|
|
Uterine Cervical Cancer
|
Neoplasms Cervical
|
|
Uterine Cervical Neoplasms
|
Cervical Cancers
|
|
Cancer, Cervical, Somatic
|
Malignant Tumor Of Cervix
|
|
Cervix Carcinoma
|
|
|
| External Ear Squamous Cell Carcinoma |
|
Epidermoid Carcinoma Of The External Ear
|
Squamous Cell Carcinoma Of External Ear
|
|
|
| Penile Cancer |
|
Penis Carcinoma
|
Carcinoma Of Penis
|
|
Penile Neoplasm
|
Penile Carcinoma
|
|
Penile Neoplasms
|
Malignant Neoplasm Of Penis
|
|
Ca Penis
|
Malignant Neoplasm Of Body Of Penis
|
|
Malignant Penile Tumor
|
Penile Ca
|
|
|
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Charlevoix-Saguenay Spastic Ataxia
|
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
|
|
Arsacs
|
SACS
|
|
Spax6
|
Spastic Ataxia Charlevoix-Saguenay Type
|
|
Spastic Ataxia 6, Autosomal Recessive
|
Autosomal Recessive Spastic Ataxia Type 6
|
|
Spastic Ataxia Of Charlevoix-Saguenay
|
Atx/Hsp-Sacs
|
|
Ataxia, Spastic, Charlevoix-Saguenay Type
|
|
|
| Suppressor Of Tumorigenicity 3 |
|
Cervical Carcinoma
|
ST3
|
|
Tumor-Suppressor Gene, Hela Cell Type
|
Tshl
|
|
Cervical Carcinoma, Tumor-Suppressor Gene Involved In
|
Ccts
|
|
Cervix Carcinoma
|
|
|
| Gene Duplication Disease |
|
Gene Duplication Syndrome
|
|
|
| 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
|
|
|
| External Ear Carcinoma |
|
Carcinoma Of External Ear
|
Carcinoma Of The External Ear
|
|
|
| Anogenital Venereal Wart |
|
Genital Warts
|
Condylomata Acuminata
|
|
Anogenital Warts
|
Condyloma Acuminatum
|
|
Anogenital Human Papilloma Virus Infectious Disease
|
Genital Wart Virus Infectious Disease
|
|
Venereal Wart
|
Venereal Warts
|
|
Verrucae Anogenitales
|
Verrucae Genitales
|
|
|
| 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
|
|
|
| Vaginal Cancer |
|
Malignant Neoplasm Of Vagina
|
Vaginal Neoplasms
|
|
Malignant Tumor Of Vagina
|
Malignant Vaginal Tumor
|
|
Neoplasm Of Vagina
|
Vagina Neoplasm
|
|
Vaginal Tumor
|
Vaginal Carcinoma
|
|
Vaginal Malignant Epithelial Tumor
|
Vaginal Neoplasm
|
|
Malignant Vaginal Neoplasm
|
Vagina Carcinoma
|
|
Vaginal Neoplasia
|
Cancer Of Vagina
|
|
Malignant Tumour Of Vagina
|
Carcinoma Of Vagina
|
|
Primary Malignant Neoplasm Of Vagina
|
Vagina Wall Cancer
|
|
Vaginal Wall Cancer
|
|
|
| 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
|
|
|
| Anus Cancer |
|
Anal Cancer
|
Anal Carcinoma
|
|
Malignant Anal Tumor
|
Cancer Of The Anus
|
|
Malignant Neoplasm Of Anus
|
Anus Neoplasms
|
|
|
| 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
|
|
|
| Schaaf-Yang Syndrome |
|
Prader-Willi-Like Syndrome
|
Chitayat-Hall Syndrome
|
|
SHFYNG
|
Pwls
|
|
Magel2-Related Prader-Willi-Like Syndrome
|
Magel2-Related Pwls
|
|
Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies
|
Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A
|
|
Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies
|
Pws Due To A Point Mutation
|
|
Pws Due To Point Mutation
|
Prader-Willi Syndrome Due To A Point Mutation
|
|
Prader-Willi Syndrome Due To Point Mutation
|
Pws-Like
|
|
|
| Epidermodysplasia Verruciformis 1 |
|
Epidermodysplasia Verruciformis
|
Epidermodysplasia Verruciformis, Susceptibility To, 1
|
|
Lutz-Lewandowsky Epidermodysplasia Verruciformis
|
EV1
|
|
Lewandowsky-Lutz Syndrome
|
Ev
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| 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
|
|
|
| Plantar Wart |
|
Verruca Plantaris
|
Verrucae On Sole Of Foot
|
|
Mosaic Plantar Warts
|
|
|
| Chromosome 15q13.3 Deletion Syndrome |
|
Chromosome 15q13.3 Microdeletion Syndrome
|
15q13.3 Microdeletion Syndrome
|
|
15q13.3 Microdeletion
|
Microdeletion 15q13.3 Syndrome
|
|
Del(15)(Q13.3)
|
Monosomy 15q13.3
|
|
|
| Childhood Disintegrative Disease |
|
Childhood Disintegrative Disorder
|
Disintegrative Psychosis
|
|
Heller'S Syndrome
|
Symbiotic Psychosis
|
|
Dementia Infantilis
|
Heller Syndrome
|
|
Shared Paranoid Disorder
|
|
|
| Specific Developmental Disorder |
|
|
| Oropharynx Cancer |
|
Oropharyngeal Cancer
|
Oropharyngeal Carcinoma
|
|
Malignant Neoplasm Of Oropharynx
|
Malignant Oropharyngeal Tumor
|
|
Malignant Tumor Of Oropharynx
|
Malignant Tumour Of Mesopharynx
|
|
Oropharyngeal Cancer, Adult
|
Cancer Of The Oropharynx
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Anus Disease |
|
Anal Fissure
|
Ulcer Of Anus
|
|
Anus Diseases
|
Anal Disease
|
|
Anal Fissure And Fistula
|
Anal Ulcer
|
|
Fissure In Ano
|
Nontraumatic Tear Of Anus
|
|
Solitary Anal Ulcer
|
Abnormality Of The Anus
|
|
Anal Disorders
|
Ulcer Of Anus And Rectum
|
|
Solitary Ulcer Of Anus
|
Stercoral Ulcer Of Anus
|
|
|
| Syndromic Intellectual Disability |
|
|
| 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
|
|
|
| Chromosomal Deletion Syndrome |
|
|
| Silver-Russell Syndrome 1 |
|
Silver-Russell Syndrome
|
Russell-Silver Syndrome
|
|
Silver-Russell Dwarfism
|
Rss
|
|
SRS1
|
Srs
|
|
Silver Russell Dwarfism
|
Russell Silver Syndrome
|
|
Silver Russell 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
|
|
|
| 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
|
|
|
| Syndromic X-Linked Intellectual Disability |
|
X-Linked Syndromic Intellectual Disability
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
|
Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| Developmental And Epileptic Encephalopathy |
|
Encephalopathy, Developmental And Epileptic
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
