| 疾病名称 |
别名 |
|
| Rett Syndrome, Congenital Variant |
|
Rett Syndrome Congenital Variant
|
RTTCV
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| Foxg1 Syndrome |
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Foxg1-Related Disorder
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Foxg1-Related Epileptic-Dyskinetic Encephalopathy
|
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Foxg1 Disorder
|
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| Stereotypic Movement Disorder |
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Stereotypy Habit Disorder
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Stereotyped Repetitive Movements
|
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Stereotyped Disorder
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Stereotypes Nos
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Stereotype Habit Disorder
|
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| Motor Stereotypies |
|
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| Strabismus |
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Strabismus, Susceptibility To
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Strabismus, Susceptibility To, 1
|
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Strabismus 1
|
|
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| Rett Syndrome |
|
Atypical Rett Syndrome
|
RTT
|
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Rett Disorder
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Rts
|
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Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
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Rett Syndrome, Atypical
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Rett'S Disorder
|
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Rett Syndrome Variant
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
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Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
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Rett'S Syndrome
|
Atypical Rtt
|
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
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Rett Syndrome Preserved Speech Variant
|
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Rett Syndrome Zappella Variant
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Rett Syndrome, Zappella Variant
|
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| Optic Nerve Disease |
|
Optic Neuropathy
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Disorder Of The Second Nerve
|
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Optic Nerve Disorder
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Optic Nerve
|
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Abnormality Of The Optic Nerve
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Optic Nerve Disorders
|
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Neuropathy, Optic
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Disorder Of The Optic Nerve
|
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
|
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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
|
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Nervous System Disorder
|
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| 14q11.2 Microduplication Syndrome |
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Dup(14)(Q11.2)
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Trisomy 14q11.2
|
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14q11.2 Microduplication
|
|
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| Foxg1 Syndrome Due To 14q12 Microdeletion |
|
Del(14)(Q12)
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Monosomy 14q12
|
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| Primary Microcephaly |
|
True Microcephaly
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Microcephaly, Primary
|
|
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| Lissencephaly |
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Pachygyria
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Broad Gyri Of Cerebrum
|
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Large Gyri Of Cerebrum
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Macrogyria
|
|
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| Gene Duplication Disease |
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Gene Duplication Syndrome
|
|
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| Nescav Syndrome |
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NESCAVS
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Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment
|
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Mrd9
|
Intellectual Disability, Autosomal Dominant 9
|
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Mental Retardation, Autosomal Dominant 9, Formerly
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Mrd9, Formerly
|
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Autosomal Dominant Intellectual Disability 9
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Autosomal Dominant Non-Syndromic Intellectual Disability 9
|
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Mental Retardation, Autosomal Dominant 9
|
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| Gait Apraxia |
|
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| Chromosome 14q11-Q22 Deletion Syndrome |
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14q11.2 Microdeletion Syndrome
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Zahir-Friedman Syndrome
|
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Del(14)(Q11.2)
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Monosomy 14q11.2
|
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| Holoprosencephaly |
|
Holoprosencephaly Sequence
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Hpe
|
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Hpe - [Holoprosencephaly]
|
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| Microcephaly |
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Microencephaly
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Microcephalus
|
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Microcephalic
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Nanocephaly
|
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Congenital Microcephaly
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Brain Hypoplasia
|
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Brain Nondevelopment
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Cephalic Hypoplasia
|
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Undeveloped Cerebrum
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Undeveloped Brain
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Micrencephalon
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Micrencephaly
|
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| Bruxism |
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Sleep Bruxism
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Sleep-Related Bruxism
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Bruxism - Teeth Grinding
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Grinding Teeth
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Sleep Related Bruxism
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Teeth Grinding
|
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Sleep Related Teeth Grinding
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| Pitt-Hopkins Syndrome |
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PTHS
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Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
|
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Mental Retardation, Syndromal, With Intermittent Hyperventilation
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Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
|
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Pitt Hopkins Syndrome
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Phs
|
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Encephalopathy Severe Epileptic With Autonomic Dysfunction
|
|
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| Deafness, Autosomal Recessive 40 |
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DFNB40
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Autosomal Recessive Nonsyndromic Deafness 40
|
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Autosomal Recessive Deafness 40
|
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| Deafness, Autosomal Recessive 55 |
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DFNB55
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Autosomal Recessive Nonsyndromic Deafness 55
|
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Autosomal Recessive Deafness 55
|
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| Primary Cutaneous Gamma-Delta T-Cell Lymphoma |
|
Cutaneous Gamma/Delta T-Cell Lymphoma
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Primary Cutaneous Gamma-Delta T Cell Lymphomas
|
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Doid:0081050
|
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| Pediculus Humanus Corporis Infestation |
|
Body Louse Infestation
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Pediculus Corporis
|
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Pediculus Humanus Infestation
|
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| Hypotonia |
|
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| Prostate Signet Ring Cell Adenocarcinoma |
|
Prostate Signet Ring Cell Carcinoma
|
Signet Ring Cell Carcinoma Of Prostate
|
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Acinar Prostate Adenocarcinoma, Signet Ring Variant
|
|
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| Cardiofaciocutaneous Syndrome 1 |
|
Cardiofaciocutaneous Syndrome
|
Cfc Syndrome
|
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Cardio-Facio-Cutaneous Syndrome
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CFC1
|
|
Cfcs
|
Cardio-Facial-Cutaneous Syndrome
|
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Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure
|
Cardiofaciocutaneous Syndrome, Type 1
|
|
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| Infancy Electroclinical Syndrome |
|
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| Mowat-Wilson Syndrome |
|
MOWS
|
Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
|
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Hirschsprung Disease-Mental Retardation Syndrome
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Mowat-Wilson Syndrome Due To Monosomy 2q22
|
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Hirschsprung Disease Mental Retardation Syndrome
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Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
|
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Hirschsprung Disease - Intellectual Disability Syndrome
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Hirschsprung Disease Intellectual Disability Syndrome
|
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Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease
|
Mws
|
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Hirschsprung Disease-Intellectual Disability Syndrome
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Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
|
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Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)
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Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
|
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Mowat-Wilson Syndrome Due To 2q22 Microdeletion
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Mowat-Wilson Syndrome Due To Del(2)Q(22)
|
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Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
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Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
|
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| Christianson Syndrome |
|
X-Linked Angelman-Like Syndrome
|
X-Linked Intellectual Disability, South African Type
|
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X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome
|
Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
|
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Mental Retardation, X-Linked Syndromic, Christianson Type
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Mrxsch
|
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Angelman-Like Syndrome X-Linked
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Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome
|
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Intellectual Disability X-Linked Syndromic Christianson Type
|
Mrxs Christianson
|
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X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy
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Angelman-Like Syndrome, X-Linked
|
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Intellectual Deficit, X-Linked, South African Type
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Mental Retardation X-Linked, South African Type
|
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Mental Retardation, X-Linked, Syndromic, Christianson Type
|
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| Peho Syndrome |
|
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy
|
Infantile Cerebellooptic Atrophy
|
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PEHO
|
Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
|
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Progressive Encephalopathy-Optic Atrophy Syndrome
|
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|
| Coffin-Siris Syndrome 1 |
|
Coffin-Siris Syndrome
|
Fifth Digit Syndrome
|
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Css
|
CSS1
|
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Mrd12
|
Mental Retardation, Autosomal Dominant 12
|
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Hhid
|
Dwarfism-Onychodysplasia
|
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Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
|
Autosomal Dominant Mental Retardation 12
|
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Short Stature-Onychodysplasia.
|
Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
|
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Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
|
Short Stature-Onychodysplasia
|
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Coffin-Siris Syndrome, Type 1
|
Mental Retardation, Autosomal Dominant, Type 12
|
|
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| Glass Syndrome |
|
Chromosome 2q32-Q33 Deletion Syndrome
|
Satb2-Associated Syndrome
|
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2q33.1 Microdeletion Syndrome
|
Sas
|
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2q32-Q33 Microdeletion Syndrome
|
2q32q33 Microdeletion Syndrome
|
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Monosomy 2q32
|
Monosomy 2q32-Q33
|
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Monosomy 2q32q33
|
2q32 Deletion Syndrome
|
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Del(2)(Q32)
|
Del(2)(Q32q33)
|
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GLASS
|
2q32q33 Microdeletion Syndromes
|
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Satb2 Syndrome
|
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
|
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Del(2)(Q33.1)
|
Monosomy 2q33.1
|
|
Satb2-Associated Syndrome Due To A Pathogenic Variant
|
Satb2-Associated Syndrome Due To A Point Mutation
|
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Satb2 Associated Disorder
|
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| Miller-Dieker Lissencephaly Syndrome |
|
Miller-Dieker Syndrome
|
Mds
|
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MDLS
|
Miller Dieker Syndrome
|
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Classical Lissencephaly Syndrome
|
Lissencephaly Due To 17p13.3 Deletion
|
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Monosomy 17p13.3
|
Telomeric Deletion 17p
|
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Classical Lissencephaly
|
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| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
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Pervasive Child Development Disorders
|
Autistic Behavior
|
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Autism Spectrum Disorders
|
|
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| Medulloblastoma |
|
MDB
|
Cpnet
|
|
Localized Primitive Neuroectodermal Tumor
|
Classic Medulloblastoma
|
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Medulloblastoma Predisposition Syndrome
|
Medulloblastoma, Somatic
|
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Brain Medulloblastoma
|
Cns Pnet
|
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Infratentorial Primitive Neuroectodermal Tumor
|
Neuroectodermal Tumors, Primitive
|
|
Medulloblastomas
|
Desmoplastic Medulloblastoma
|
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Medulloblastoma, With Extensive Nodularity
|
Medulloblastoma Of Unspecified Site
|
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Medullomyoblastoma Of Unspecified Site
|
|
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| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Hereditary Persistence Of Fetal Hemoglobin
|
Delta-Beta-Thalassemia
|
|
Delta-Beta Thalassemia
|
Delta Beta-Thalassemia
|
|
HBFQTL1
|
Hemoglobin F, Hereditary Persistence Of
|
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Hpfh
|
Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related
|
|
Hemoglobin, Fetal, Quantitative Trait Locus 1
|
Hereditary Persistence Of Fetal Hemoglobin Thalassemia
|
|
Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]
|
Fetal Haemoglobin
|
|
Persistence Of Fetal Haemoglobin
|
Persistent Haemoglobin F
|
|
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| 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
|
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West'S Syndrome
|
Spasms, Infantile
|
|
Is -[Infantile Spasm]
|
Salaam Spasm
|
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Salaam Tic
|
|
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| Lennox-Gastaut Syndrome |
|
Lennox Syndrome
|
Encephalopathy Of Childhood
|
|
Epileptic Encephalopathy Lennox-Gastaut Type
|
Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
|
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Lgs
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| 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
|
|
|
| Choreatic Disease |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
