| 疾病名称 |
别名 |
|
| Renpenning Syndrome 1 |
|
Renpenning Syndrome
|
Golabi-Ito-Hall Syndrome
|
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Mrxs3
|
Mrxs8
|
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X-Linked Intellectual Disability Due To Pqbp1 Mutations
|
RENS1
|
|
Sutherland-Haan X-Linked Mental Retardation Syndrome
|
Shs
|
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Mrx55
|
X-Linked Intellectual Disability, Renpenning Type
|
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Sutherland-Haan Syndrome
|
Mental Retardation, X-Linked, Renpenning Type
|
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Mental Retardation, X-Linked, With Spastic Diplegia
|
Mental Retardation, X-Linked, Syndromic 3
|
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Mental Retardation, X-Linked, Syndromic 8
|
Mental Retardation, X-Linked 55
|
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Syndromic X-Linked Mental Retardation 8
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X-Linked Mental Retardation Renpenning Type
|
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X-Linked Mental Retardation With Spastic Diplegia
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Sutherland-Haan X-Linked Intellectual Disability Syndrome
|
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X-Linked Intellectual Disability With Spastic Diplegia
|
Hamel Cerebropalatocardiac Syndrome
|
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Porteous Syndrome
|
X-Linked Intellectual Deficit Due To Pqbp1 Mutations
|
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X-Linked Intellectual Deficit, Renpenning Type
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X-Linked Intellectual Disability, Sutherland-Haan Type
|
|
Hamel Cerebro-Palato-Cardiac Syndrome
|
Renpenning Syndrome, Type 1
|
|
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| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
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| X-Linked Intellectual Disability, Porteous Type |
|
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| Microcephaly |
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Microencephaly
|
Microcephalus
|
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Microcephalic
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Nanocephaly
|
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Congenital Microcephaly
|
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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| Intellectual Developmental Disorder, X-Linked 2 |
|
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| Partington Syndrome |
|
X-Linked Reticulate Pigmentary Disorder
|
PRTS
|
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Partington X-Linked Mental Retardation Syndrome
|
Mrxs1
|
|
Mrx36
|
Intellectual Developmental Disorder, X-Linked, Syndromic 1
|
|
Partington Disease
|
Pdr
|
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Partington-Mulley Syndrome
|
Russell-Silver Syndrome, X-Linked
|
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Mental Retardation, X-Linked, Syndromic 1
|
Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
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Mental Retardation, X-Linked 36
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X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
|
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X-Linked Russell-Silver Syndrome
|
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
|
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Intellectual Disability, X-Linked, Syndromic 1
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Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
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Partington X-Linked Intellectual Disability Syndrome
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X-Linked Intellectual Deficit-Dystonia-Dysarthria
|
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X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures
|
Familial Cutaneous Amyloidosis
|
|
X-Linked Cutaneous Amyloidosis
|
Xlpdr
|
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X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome
|
Pigmentary Disorder, Reticulate, With Systemic Manifestations
|
|
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| Non-Syndromic X-Linked Intellectual Disability 106 |
|
Mrx106
|
X-Linked Mental Retardation 106
|
|
|
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
MLASA2
|
Myopathy With Lactic Acidosis And Sideroblastic Anemia 2
|
|
Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2
|
|
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| Arboleda-Tham Syndrome |
|
Kat6a Syndrome
|
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
|
|
ARTHS
|
Mrd32
|
|
Mental Retardation, Autosomal Dominant 32, Formerly
|
Mrd32, Formerly
|
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Autosomal Dominant Mental Retardation 32
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Autosomal Dominant Non-Syndromic Intellectual Disability 32
|
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Arboleda-Tham
|
|
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| Syndromic X-Linked Intellectual Disability |
|
X-Linked Syndromic Intellectual Disability
|
|
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| Armfield Syndrome |
|
X-Linked Intellectual Disability, Armfield Type
|
Armfield X-Linked Mental Retardation Syndrome
|
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Mental Retardation Syndrome, X-Linked, Armfield Type
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Mrxsa
|
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Syndromic X-Linked Mental Retardation Armfield Type
|
|
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| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Proud Syndrome
|
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
|
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Acc With Abnormal Genitalia
|
Proud-Levine-Carpenter Syndrome
|
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Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
|
Corpus Callosum Agenesis With Abnormal Genitalia
|
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New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum
|
Proud Levine Carpenter Syndrome
|
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Acc-Abnormal Genitalia Syndrome
|
Agenesis Of The Corpus Callosum, With Abnormal Genitalia
|
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ACCAG
|
Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia
|
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Congenital Neurologic Anomalies
|
|
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| Microphthalmia, Syndromic 1 |
|
MCOPS1
|
Lenz Microphthalmia Syndrome
|
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Lenz Dysplasia
|
Mcops4
|
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Syndromic Microphthalmia 1
|
Lenz Microphthalmia
|
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Maa
|
Microphthalmia Or Anophthalmos With Associated Anomalies
|
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Syndromic Microphthalmia Type 4
|
Microphthalmia, Syndromic 4
|
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Microphthalmia, Syndromic 4, Formerly
|
Mcops4, Formerly
|
|
Anop1, Formerly
|
Maa, Formerly
|
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Lenz Type Microphthalmia
|
Syndromic Microphthalmia 4
|
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Microphthalmia Lenz Type
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Microphthalmia Syndromic 1
|
|
Syndromic Microphthalmia Type 1
|
Microphthalmia Syndromic 4
|
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Microphthalmia With Ankyloblepharon And Intellectual Disability
|
Microphthalmia, Lenz Type
|
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Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
|
Microphthalmia, Syndromic, 1
|
|
Anop1
|
Microphthalmia, Syndromic, Type 1
|
|
|
| Pettigrew Syndrome |
|
PGS
|
Mrxs5
|
|
Mrx59
|
Mrxs21
|
|
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
|
Mental Retardation, X-Linked, Syndromic 5
|
|
Mrxsf
|
Syndromic X-Linked Intellectual Disability 5
|
|
Fried Syndrome
|
Mental Retardation, X-Linked Syndromic 5
|
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Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
|
Mental Retardation, X-Linked, Syndromic, Fried Type
|
|
Mental Retardation, X-Linked, Syndromic 21
|
Syndromic X-Linked Mental Retardation 21
|
|
Syndromic X-Linked Mental Retardation Fried Type
|
X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
|
|
Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An
|
Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures
|
|
X-Linked Syndromic Intellectual Disability 5
|
X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures
|
|
X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures
|
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
|
|
Mental Retardation, X-Linked Syndromic, Fried Type
|
Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures
|
|
Mental Retardation, X-Linked 59
|
|
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| Syndromic Intellectual Disability |
|
|
| Melnick-Needles Syndrome |
|
MNS
|
Melnick-Needles Osteodysplasty
|
|
Osteodysplasty Of Melnick And Needles
|
Osteochondrodysplasias
|
|
|
| Trichohepatoenteric Syndrome 1 |
|
Trichohepatoenteric Syndrome
|
Syndromic Diarrhea
|
|
Tricho-Hepato-Enteric Syndrome
|
Sd/The
|
|
Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome
|
THES1
|
|
Phenotypic Diarrhea
|
Thes
|
|
Phenotypic Diarrhea Of Infancy
|
Diarrhea, Syndromic
|
|
Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa
|
Intractable Diarrhea With Phenotypic Anomalies
|
|
Syndromatic Diarrhea
|
Fatal Infantile Diarrhea With Trichorrhexis Nodosa
|
|
|
| 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
|
|
|
| Otopalatodigital Syndrome Spectrum Disorder |
|
Opd Spectrum Disorder
|
Opsd
|
|
Fronto-Otopalatodigital Osteodysplasia
|
|
|
| Ohdo Syndrome |
|
Young Simpson Syndrome
|
Ohdo Blepharophimosis Syndrome
|
|
Blepharophimosis Syndrome Ohdo Type
|
Blepharophimosis Intellectual Disability Syndromes
|
|
Bmrs
|
Blepharophimosis-Intellectual Disability Syndrome
|
|
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth
|
Sbbys Syndrome
|
|
Say Barber Biesecker Young-Simpson Syndrome
|
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
|
|
Bmrs, Ohdo Type
|
Blepharophimosis Syndrome, Ohdo Type
|
|
Ohdo-Madokoro-Sonoda Syndrome
|
Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
|
|
Blepharophimosis - Intellectual Disability Syndrome
|
|
|
| Atrial Septal Defect 2 |
|
ASD2
|
Atrial Heart Septal Defect 2
|
|
Atrial Septal Defect-2
|
Asd Ii
|
|
Septal Defect, Atrial, Type 2
|
|
|
| Microphthalmia |
|
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
|
Globe Of Eye Small
|
Small Eyeball
|
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| Spastic Diplegia |
|
Diplegic Infantile Cerebral Palsy
|
Little'S Disease
|
|
Cerebral Palsy
|
Cerebral Spastic Infantile Paralysis
|
|
Infantile Diplegic Cerebral Palsy
|
Infantile Spastic Cerebral Palsy
|
|
Littles Disease
|
Spastic Cerebral Palsy
|
|
|
| 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
|
|
|
| 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
|
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
|
X-Linked Non-Specific Intellectual Disability
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| 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
|
|
|
