| 疾病名称 |
别名 |
|
| Intellectual Developmental Disorder With Autism And Macrocephaly |
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Autism, Susceptibility To, 18
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IDDAM
|
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Autism 18, Formerly
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Autism, Susceptibility To, 18, Formerly
|
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Auts18, Formerly
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Autism 18
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AUTS18
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| Autism Spectrum Disorder |
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Asd
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Autism Spectrum Disorders
|
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Autistic Continuum
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Pervasive Developmental Disorder
|
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Pervasive Development Disorder
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Autistic Behavior
|
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Autistic Disorder
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Autistic
|
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Autistic Disorder Of Childhood Onset
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Infantile Autism
|
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Childhood Autism
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Kanner Syndrome
|
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Pervasive Developmental Delay Nos
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Pervasive Developmental Disorder, Not Otherwise Specified
|
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| Autism |
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Autistic Disorder
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Autism Susceptibility 1
|
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Childhood Autism
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Autistic Disorder Of Childhood Onset
|
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Infantile Autism
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Kanner'S Syndrome
|
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Autistic
|
|
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| Overgrowth Syndrome |
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Overgrowth
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Congenital Malformation Syndromes Involving Early Overgrowth
|
|
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| Congenital Ptosis |
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Congenital Blepharoptosis
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Congenital Eyelid Ptosis
|
|
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| Rare Genetic Intellectual Disability |
|
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| Pervasive Developmental Disorder |
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Pervasive Development Disorder
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Pervasive Developmental Disorders
|
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Pervasive Child Development Disorders
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Autistic Behavior
|
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Autism Spectrum Disorders
|
|
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| Charge Syndrome |
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Charge Association
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Hall-Hittner Syndrome
|
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Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
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Hhs
|
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Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
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Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
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CHARGES
|
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| Schizophrenia 8 |
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SCZD8
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Schizophrenia Susceptibility Locus, Chromosome 18-Related
|
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Schizophrenia 8 With Or Without An Affective Disorder
|
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| Helsmoortel-Van Der Aa Syndrome |
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HVDAS
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Mrd28
|
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Adnp Syndrome
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Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder
|
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Mental Retardation, Autosomal Dominant 28
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Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
|
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Mental Retardation, Autosomal Dominant 28, Formerly
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Mrd28, Formerly
|
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Autosomal Dominant Mental Retardation 28
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Adnp-Related Intellectual Disability And Autism Spectrum Disorder
|
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Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
|
|
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| Macrocephaly/Autism Syndrome |
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Macrocephaly-Autism Syndrome
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Macrocephaly-Intellectual Disability-Autism Syndrome
|
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MCEPHAS
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| Syndromic X-Linked Intellectual Disability Nascimento Type |
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Mental Retardation, X-Linked Syndromic, Nascimento-Type
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X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
|
|
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| Congenital Myasthenic Syndrome |
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Congenital Myasthenia
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Congenital Myasthenic Syndromes
|
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Cms
|
Myasthenic Syndromes, Congenital
|
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Myasthenic Syndromes Congenital
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Myasthenic Syndrome, Congenital
|
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Congenital Myasthenic Syndrome Ib
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Congenital And Developmental Myasthenia
|
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Developmental Myasthenia
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| Non-Syndromic X-Linked Intellectual Disability 93 |
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Mrx93
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X-Linked Mental Retardation With Macrocephaly
|
|
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| Intellectual Developmental Disorder, Autosomal Dominant 23 |
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MRD23
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Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
|
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Mental Retardation, Autosomal Dominant 23
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Autosomal Dominant Non-Syndromic Intellectual Disability 23
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Autosomal Dominant Intellectual Developmental Disorder 23
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Autosomal Dominant Mental Retardation 23
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Mental Retardation, Autosomal Dominant, Type 23
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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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9q34.3 Deletion Syndrome
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9qstds
|
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Chromosome 9q34.3 Deletion Syndrome
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Chromosome 9, Trisomy 9q
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|
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| Vulvar Melanoma |
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Malignant Melanoma Of Vulva
|
|
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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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| Tatton-Brown-Rahman Syndrome |
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TBRS
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Dnmt3a Overgrowth Syndrome
|
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Tatton-Brown-Rahman Overgrowth Syndrome
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Dos
|
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Dnmt3a-Related Overgrowth Syndrome
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Doid:0112339
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Dose
|
|
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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
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Kabuki Make Up Syndrome
|
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Nks
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Kabuki Makeup Syndrome
|
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Kabuki Syndrome, Type 1
|
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| Autosomal Dominant Intellectual Developmental Disorder |
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Autosomal Dominant Mental Retardation
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Autosomal Dominant Non-Syndromic Mental Retardation
|
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Autosomal Dominant Non-Syndromic Intellectual Disability
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Mental Retardation, Autosomal Dominant
|
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| Weaver Syndrome |
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Wss
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Weaver-Smith Syndrome
|
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WVS
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Weaver-Like Syndrome
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Weaver-Williams Syndrome
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Camptodactyly-Overgrowth-Unusual Facies Syndrome
|
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Camptodactyly - Overgrowth - Unusual Facies
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Ezh2 Related Overgrowth
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Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly
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Weaver Smith Syndrome
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Weaver Like Syndrome
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Weaver Williams Syndrome
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Camptodactyly-Overgrowth-Unusual Facies
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Weaver Syndrome 1
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Weaver Syndrome 2
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Wvs1
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Wvs2
|
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| Marfan Syndrome |
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MFS
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Mfs1
|
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Marfan'S Syndrome
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Marfan Syndrome Type 1
|
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Marfan Syndrome, Type I
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Mass Phenotype
|
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Contractural Arachnodactyly
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Mass Syndrome
|
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Octd
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Overlap Connective Tissue Disease
|
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Marfanoid Hypermobility Syndrome
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Marfan Disease
|
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| Sotos Syndrome |
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Cerebral Gigantism
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SOTOS
|
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Chromosome 5q35 Deletion Syndrome
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Sotos Syndrome 1, Formerly
|
|
Sotos1, Formerly
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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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| Specific Developmental Disorder |
|
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| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
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Autosomal Dominant Opitz G/Bbb Syndrome
|
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Catch22
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Cayler Cardiofacial Syndrome
|
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Conotruncal Anomaly Face Syndrome
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Digeorge Syndrome
|
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Sedlackova Syndrome
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Shprintzen Syndrome
|
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Velocardiofacial Syndrome
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22q11.2 Distal Deletion Syndrome
|
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Distal 22q11.2 Microdeletion Syndrome
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22q11.2ds
|
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Vcfs
|
Velo-Cardio-Facial Syndrome
|
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Distal Chromosome 22q11.2 Deletion Syndrome
|
Chromosome 22q11.2 Deletion Syndrome Distal
|
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Chromosome 22q11.2 Deletion Syndrome
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Deletion 22q11.2 Syndrome
|
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22q11ds
|
Catch 22
|
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Digeorge Sequence
|
Microdeletion 22q11.2
|
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Monosomy 22q11
|
Takao Syndrome
|
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Distal Del(22)(Q11.2)
|
Distal Monosomy 22q11.2
|
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Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
|
|
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| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
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Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
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Hereditary Macular Coloboma
|
Ocular Coloboma
|
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Coloboma Of Eye
|
Macular Coloboma
|
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Uveoretinal Coloboma
|
|
|
| Attention Deficit-Hyperactivity Disorder |
|
Attention Deficit Hyperactivity Disorder
|
ADHD
|
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Attention Deficit Disorder
|
Attention Deficit-Hyperactivity Disorder, Susceptibility To
|
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Attention Deficit Disorder With Hyperactivity
|
Hyperkinetic Disorder
|
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Hyperactivity Of Childhood
|
Attention-Deficit/Hyperactivity Disorder
|
|
Add
|
Addh
|
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Attention Deficit
|
Attention Deficit Disorder Of Childhood With Hyperactivity
|
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Attention Deficit Disorder With Hyperactivity Syndrome
|
Hyperkinetic Syndrome
|
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Attention-Deficit Hyperactivity Disorder
|
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
|
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Disturbance Of Activity And Attention
|
Disorder Of Activity And Attention
|
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Adhd - [Attention Deficit Hyperactivity Disorder]
|
Hyperkinetic Disorders
|
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Disorder Of Activity And Attention With Hyperkinesia
|
Attention Deficit Syndrome With Hyperactivity
|
|
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| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
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| Syndromic Intellectual Disability |
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
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Micrencephalon
|
Micrencephaly
|
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