| 疾病名称 |
别名 |
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| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Epileptic Encephalopathy, Early Infantile, 85, With Or Without Midline Brain Defects
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DEE85
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Eiee85
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Developmental And Epileptic Encephalopathy, 85, With Or Without Midline Brain Defects
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Developmental And Epileptic Encephalopathy 85, With Or Without Midline Brain Defects
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| Cornelia De Lange Syndrome 2 |
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CDLS2
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Cornelia De Lange Syndrome, X-Linked
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Cdls, X-Linked
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Cornelia De Lange Syndrome X-Linked
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Cornelia De Lange Syndrome, Type 2
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Congenital Muscular Hypertrophy-Cerebral Syndrome
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| Hypertonia |
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| Cornelia De Lange Syndrome |
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De Lange Syndrome
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Brachmann De Lange Syndrome
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Brachmann-De Lange Syndrome
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Cdls
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Bdls
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Typus Degenerativus Amstelodamensis
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| Wiedemann-Steiner Syndrome |
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WDSTS
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Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
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Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome
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Wiedemann Grosse Dibbern Syndrome
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Kmt2a-Related Neurodevelopmental Disorder
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Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay
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Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay
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Wss
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Growth Deficiency And Mental Retardation With Facial Dysmorphism
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| Rett Syndrome |
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Atypical Rett Syndrome
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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
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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
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
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Cerebroatrophic Hyperammonemia
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Rett Like Syndrome
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Rett'S Syndrome
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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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| 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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| Semilobar Holoprosencephaly |
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| Cornelia De Lange Syndrome 1 |
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De Lange Syndrome
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CDLS1
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Cdl
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Cdls
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Typus Degenerativus Amstelodamensis
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Brachmann-De Lange Syndrome
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Bdls
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Amstelodamensis Typus Degenerativus
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Cornelia De Lange Syndrome, Type 1
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| Ataxia-Telangiectasia |
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Ataxia Telangiectasia
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Louis-Bar Syndrome
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AT
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At1
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Ataxia-Telangiectasia Syndrome
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Ataxia - Telangiectasia Variant
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Boder-Sedgwick Syndrome
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Louis Bar Syndrome
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Cerebello-Oculocutaneous Telangiectasia
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Immunodeficiency With Ataxia Telangiectasia
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A-T
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Ataxia Telangiectasia Syndrome
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Atm
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Telangiectasia, Cerebello-Oculocutaneous
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Ataxia-Telangiectasia Variant
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| Familial Isolated Trichomegaly |
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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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| Roberts-Sc Phocomelia Syndrome |
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Roberts Syndrome
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Sc Phocomelia Syndrome
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RBS
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Long Bone Deficiencies Associated With Cleft Lip-Palate
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Sc Pseudothalidomide Syndrome
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Appelt-Gerken-Lenz Syndrome
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Pseudothalidomide Syndrome
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Tetraphocomelia-Cleft Palate Syndrome
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Hypomelia Hypotrichosis Facial Hemangioma Syndrome
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Roberts Syndrome/Sc Phocomelia
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Roberts Tetraphocomelia Syndrome
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Sc Syndrome
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Sc Phocomelia
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Sc Disease
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Sc
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Hemoglobin Sc Disease
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| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
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Cornelia De Lange Syndrome 3
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CDLS3
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Cornelia De Lange Syndrome, Type 3
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| Nijmegen Breakage Syndrome |
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Berlin Breakage Syndrome
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NBS
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Microcephaly, Normal Intelligence And Immunodeficiency
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Ataxia-Telangiectasia Variant
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Ataxia-Telangiectasia Variant V1
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Seemanova Syndrome Ii
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Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome
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Seemanova Syndrome Type 2
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At-V1
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Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
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Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence
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Immunodeficiency, Microcephaly, And Chromosomal Instability
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Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome
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Microcephaly Immunodeficiency Lymphoreticuloma
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Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies
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Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence
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Seemanova Syndrome 2
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Ataxia-Telangiectasia Variant 1
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Seemanova Syndrome
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At V1
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Ataxia-Telangiectasia, Variant 1
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Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
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V-At
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Ataxia Telangiectasia Variant V1
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| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Cornelia De Lange Syndrome 4
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CDLS4
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Cornelia De Lange Syndrome, Type 4
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| Chronic Atrial And Intestinal Dysrhythmia |
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CAID
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Caid Syndrome
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Cohesinopathy Affecting Heart And Gut Rhythm
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Chronic Atrial Intestinal Dysrhythmia Syndrome
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Chronic Atrial And Intestinal Dysrhythmia Syndrome
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Chronic Atrial Dysrhythmia-Intestinal Motility Disorder
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Dysrhythmia, Atrial And Intestinal, Chronic
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| Kbg Syndrome |
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KBGS
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Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
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Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
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Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
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Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
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Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
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| Glass Syndrome |
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Chromosome 2q32-Q33 Deletion Syndrome
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Satb2-Associated Syndrome
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2q33.1 Microdeletion Syndrome
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Sas
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2q32-Q33 Microdeletion Syndrome
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2q32q33 Microdeletion Syndrome
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Monosomy 2q32
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Monosomy 2q32-Q33
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Monosomy 2q32q33
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2q32 Deletion Syndrome
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Del(2)(Q32)
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Del(2)(Q32q33)
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GLASS
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2q32q33 Microdeletion Syndromes
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Satb2 Syndrome
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Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
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Del(2)(Q33.1)
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Monosomy 2q33.1
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Satb2-Associated Syndrome Due To A Pathogenic Variant
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Satb2-Associated Syndrome Due To A Point Mutation
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Satb2 Associated Disorder
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| Eyelid Disease |
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Eyelid Diseases
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Eyelid Disorders
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| Warsaw Breakage Syndrome |
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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
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| Holoprosencephaly |
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Holoprosencephaly Sequence
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Hpe
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Hpe - [Holoprosencephaly]
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| Developmental And Epileptic Encephalopathy |
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Encephalopathy, Developmental And Epileptic
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| Trichorhinophalangeal Syndrome, Type Ii |
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Langer-Giedion Syndrome
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Lgs
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Trichorhinophalangeal Syndrome Type Ii
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Trichorhinophalangeal Syndrome Type 2
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TRPS2
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Monosomy 8q24.1
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Chromosome 8q24.1 Deletion Syndrome
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Deletion 8q24.1
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Giedion-Langer Syndrome
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Trichorhinophalangeal Dysplasia Type Ii
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Langer Giedion Syndrome
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Trps 2
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Tricho-Rhino-Phalangeal Syndrome Type Ii
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Trichorhinophalangeal Syndrome With Exostosis
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Trps Ii
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Tricho-Rhino-Phalangeal Syndrome 2
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8q24.1 Microdeletion Syndrome
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8q24.1 Deletion Syndrome
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| Noonan Syndrome 1 |
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Noonan Syndrome
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NS1
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Male Turner Syndrome
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Female Pseudo-Turner Syndrome
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Turner Phenotype With Normal Karyotype
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Noonan Syndrome With Pigmented Villonodular Synovitis
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Turner'S Phenotype, Karyotype Normal
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Familial Turner Syndrome
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Noonan'S Syndrome
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Noonan-Ehmke Syndrome
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Ns
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Pseudo-Ullrich-Turner Syndrome
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Turner Syndrome In Female With X Chromosome
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Turner-Like Syndrome
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Ullrich-Noonan Syndrome
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Noonan-Like/Multiple Giant Cell Lesion Syndrome
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Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
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Pterygium Colli Syndrome
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Noonan Syndrome, Type 1
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Turner Syndrome, Male
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| Chromosome 16p13.3 Deletion Syndrome, Proximal |
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Rubinstein-Taybi Syndrome
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Broad Thumb-Hallux Syndrome
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Chromosome 16p13.3 Deletion Syndrome
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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
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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 Intellectual Disability
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Rts
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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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| Diaphragmatic Hernia, Congenital |
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Congenital Diaphragmatic Hernia
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Diaphragmatic Hernia
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Cdh
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Congenital Diaphragmatic Defect
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Hernia, Diaphragmatic
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Dih
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Hernia, Congenital Diaphragmatic
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Hcd
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Diaphragmatic Defect, Congenital
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Diaphragm, Unilateral Agenesis Of
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Hemidiaphragm, Agenesis Of
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Diaphragmatic Hernia 1
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Agenesis Of Hemidiaphragm
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Unilateral Agenesis Of Diaphragm
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Hernia Diaphragmatic
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Hernia Diaphragmatic Congenital
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Hernia, Diaphragmatic, Type 1
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Hiatus Hernia
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Oesophageal Hiatus Hernia
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Paraoesophageal Hernia
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Sliding Hiatus Hernia
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Congenital Diaphragm Hernia
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Congenital Diaphragm Defect With Hernia
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Gross Congenital Diaphragm Defect
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| Retinitis Pigmentosa |
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RP
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Rod-Cone Dystrophy
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
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Pigmentary Retinopathy
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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| Hypertrichosis |
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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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| Alpha-Thalassemia |
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Alpha Thalassemia
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Alpha Thalassaemia
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Alpha Plus Thalassemia
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Thalassemia, Alpha-
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Thalassemias, Alpha-
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A-Thalassemia
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Α-Thalassemia
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A-THAL
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Thalassemia
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Alpha Thalassaemia Syndrome
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| Orofacial Cleft |
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| Leukemia, Acute Myeloid |
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Acute Myeloid Leukemia
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Leukemia, Acute Myelogenous
|
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Acute Myelogenous Leukemia
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AML
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Leukemia, Acute Myeloid, Susceptibility To
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Acute Myeloblastic Leukemia
|
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Leukemia, Acute Myeloid, Reduced Survival In, Somatic
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Acute Myeloid Leukaemia
|
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Leukemia, Myelocytic, Acute
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Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
|
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Secondary Aml
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Acute Myelocytic Leukemia
|
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Acute Myeloid Leukemia, Somatic
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Leukemia, Acute Myeloid, Somatic
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Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
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Acute Myeloblastic Leukaemia
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Acute Myelogenous Leukaemia
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Aml - Acute Myeloid Leukemia
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Acute Myeloid Leukemia With Cebpa Somatic Mutations
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Aml With Cebpa Somatic Mutations
|
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Inherited Acute Myeloid Leukemia
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Familial Aml
|
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Inherited Aml
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Pure Familial Aml
|
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Pure Familial Acute Myeloid Leukemia
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Secondary Acute Myeloid Leukemia
|
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Therapy-Related Aml And Myelodysplastic Syndrome
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Acute Myeloid Leukemia, Secondary
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Acute Non-Lymphoblastic Leukemia
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Acute Non-Lymphocytic Leukemia
|
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Acute Biphenotypic Leukemia
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Acute Undifferentiated Leukemia
|
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Acute Myeloblastic Leukaemia With Multilineage Dysplasia
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Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
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Acute Myeloid Leukaemia With Myelodysplasia-Related Features
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