| 疾病名称 |
别名 |
|
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
MRD1
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Autosomal Dominant Non-Syndromic Intellectual Disability 1
|
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Mental Retardation, Autosomal Dominant 1
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Autosomal Dominant Intellectual Developmental Disorder 1
|
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| Mowat-Wilson Syndrome |
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MOWS
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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
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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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| Autosomal Dominant Intellectual Developmental Disorder 31 |
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Autosomal Dominant Non-Syndromic Intellectual Disability 31
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Autosomal Dominant Mental Retardation 31
|
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Mrd31
|
Mental Retardation, Autosomal Dominant, Type 31
|
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| Kleefstra Syndrome Due To A Point Mutation |
|
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| Kleefstra Syndrome 2 |
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KLEFS2
|
Kleefstra Syndrome, Type 2
|
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| Chromosomal Deletion Syndrome |
|
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| Sotos Syndrome |
|
Cerebral Gigantism
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SOTOS
|
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Chromosome 5q35 Deletion Syndrome
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Sotos Syndrome 1, Formerly
|
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Sotos1, Formerly
|
Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
|
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Sotos Sequence
|
Sotos' Syndrome
|
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Sotos1
|
Sotos Syndrome 1
|
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| Williams-Beuren Syndrome |
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Williams Syndrome
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WBS
|
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Wms
|
Deletion 7q11.23
|
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Monosomy 7q11.23
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Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
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Fanconi Schlesinger Syndrome
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Beuren Syndrome
|
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Elfin Facies Syndrome
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Elfin Facies With Hypercalcemia
|
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Hypercalcemia-Supravalvar Aortic Stenosis
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Ws
|
|
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| Kleefstra Syndrome |
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9q34.3 Microdeletion Syndrome
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9q Subtelomeric Deletion Syndrome
|
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9q- Syndrome
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Chromosome 9q Deletion Syndrome
|
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9qstds
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Chromosome 9q34.3 Deletion Syndrome
|
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9q34.3 Deletion Syndrome
|
Chromosome 9, Trisomy 9q
|
|
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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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| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
Rubinstein-Taybi Syndrome
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Broad Thumb-Hallux Syndrome
|
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Chromosome 16p13.3 Deletion Syndrome
|
Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
|
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Rubinstein Syndrome
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Broad Thumbs-Halluces Syndrome
|
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Rsts
|
Rubinstein-Taybi Deletion Syndrome
|
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Rsts Deletion Syndrome
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Proximal Chromosome 16p13.3 Deletion Syndrome
|
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16p13.3 Deletion Syndrome
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Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation
|
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Rts
|
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| Hypoplastic Left Heart Syndrome |
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Hlhs
|
Heart, Hypoplastic Left, Syndrome
|
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Hypoplasia Of The Left Heart
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Left Heart Hypoplasia Syndrome
|
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Hlhs - [Hypoplastic Left Heart Syndrome]
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Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
|
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Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome
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Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
|
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Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia
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Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
|
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Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
|
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| Chromosome 2q37 Deletion Syndrome |
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Albright Hereditary Osteodystrophy-Like Syndrome
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2q37 Microdeletion Syndrome
|
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Brachydactyly-Intellectual Disability Syndrome
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Deletion 2q37
|
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2q37 Deletion Syndrome
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Brachydactyly-Mental Retardation Syndrome
|
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Bdmr
|
Albright Hereditary Osteodystrophy Type 3
|
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Del(2)(Q37)
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Monosomy 2q37qter
|
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Albright'S Hereditary Osteodystrophy-Like Syndrome
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Monosomy 2q37
|
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Chromosome Deletion Syndrome 2q37
|
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| Kabuki Syndrome 1 |
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Kabuki Syndrome
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Niikawa-Kuroki Syndrome
|
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Kabuki Make-Up Syndrome
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Kms
|
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KABUK1
|
Kabuki Make Up Syndrome
|
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Nks
|
Kabuki Makeup Syndrome
|
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Kabuki Syndrome, Type 1
|
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| Syndromic Intellectual Disability |
|
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| Wolf-Hirschhorn Syndrome |
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Pitt-Rogers-Danks Syndrome
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WHS
|
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Chromosome 4p16.3 Deletion Syndrome
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Wittwer Syndrome
|
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4p- Syndrome
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Pitt Syndrome
|
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4p Deletion Syndrome
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Distal Deletion 4p
|
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Distal Monosomy 4p
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Telomeric Deletion 4p
|
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Prds
|
4p Syndrome
|
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Chromosome 4p Syndrome
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Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
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Wolf Syndrome
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Chromosome 4p Deletion Syndrome
|
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Chromosome 4p Monosomy
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Del Syndrome
|
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Monosomy 4p
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Partial Monosomy 4p
|
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Chromosome 4 Short Arm Deletion
|
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| Schizophrenia |
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SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
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Schizophrenia 12
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Schizophrenia, Susceptibility To
|
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Schizophrenia-1
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Dementia Praecox
|
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Schizophrenia 1
|
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| Kleefstra Syndrome 1 |
|
9q Subtelomeric Deletion Syndrome
|
KLEFS1
|
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Chromosome 9q34.3 Deletion Syndrome
|
9q- Syndrome
|
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9q34 Deletion Syndrome
|
Kleefstra Syndrome Due To 9q34 Microdeletion
|
|
Kleefstra Syndrome
|
9q-Syndrome
|
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9qstds
|
Kleefstra Syndrome Due To 9q Subtelomeric Deletion
|
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Kleefstra Syndrome Due To Del(9)(Q34)
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Kleefstra Syndrome Due To Monosomy 9q34
|
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Chromosome 9q Subtelomeric Deletion Syndrome
|
Kleefstra Syndrome, Type 1
|
|
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| Christianson Syndrome |
|
X-Linked Angelman-Like Syndrome
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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
|
|
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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| Autism Spectrum Disorder |
|
Asd
|
Autism Spectrum Disorders
|
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Autistic Continuum
|
Pervasive Developmental Disorder
|
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Pervasive Development Disorder
|
Autistic Behavior
|
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Autistic Disorder
|
Autistic
|
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Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
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Childhood Autism
|
Kanner Syndrome
|
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Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
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| Pitt-Hopkins Syndrome |
|
PTHS
|
Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
|
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Mental Retardation, Syndromal, With Intermittent Hyperventilation
|
Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
|
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Pitt Hopkins Syndrome
|
Phs
|
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Encephalopathy Severe Epileptic With Autonomic Dysfunction
|
|
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| Weaver Syndrome |
|
Wss
|
Weaver-Smith Syndrome
|
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WVS
|
Weaver-Like Syndrome
|
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Weaver-Williams Syndrome
|
Camptodactyly-Overgrowth-Unusual Facies Syndrome
|
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Camptodactyly - Overgrowth - Unusual Facies
|
Ezh2 Related Overgrowth
|
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Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly
|
Weaver Smith Syndrome
|
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Weaver Like Syndrome
|
Weaver Williams Syndrome
|
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Camptodactyly-Overgrowth-Unusual Facies
|
Weaver Syndrome 1
|
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Weaver Syndrome 2
|
Wvs1
|
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Wvs2
|
|
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| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
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Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
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Infantile Autism
|
Kanner'S Syndrome
|
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Autistic
|
|
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| Ogden Syndrome |
|
OGDNS
|
N-Terminal Acetyltransferase Deficiency
|
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NATD
|
N-Alpha-Acetyltransferase
|
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X-Linked Malformation And Infantile Lethality Syndrome
|
Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome
|
|
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| Polymicrogyria |
|
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