| 疾病名称 |
别名 |
|
| 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
|
|
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| Hypertrichosis |
|
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| Corpus Callosum, Agenesis Of |
|
Corpus Callosum Agenesis
|
Agenesis Of The Corpus Callosum
|
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Isolated Corpus Callosum Agenesis
|
Acc
|
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Non Rare In Europe: Isolated Corpus Callosum Agenesis
|
Congenital Malformation Of Corpus Callosum
|
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Deformity Of Corpus Callosum
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Absence Of Corpus Callosum
|
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Absent Corpus Callosum
|
Acc - [Agenesis Of Corpus Callosum]
|
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Aplasia Of Corpus Callosum
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Congenital Absence Of Corpus Callosum
|
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Hypoplastic Corpus Callosum
|
Hypoplasia Of Corpus Callosum
|
|
|
| Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag |
|
Da Silva Syndrome
|
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
|
|
|
| Blepharophimosis |
|
|
| Capillary Hemangioma |
|
Infantile Hemangioma
|
Strawberry Nevus Of Skin
|
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Cellular Hemangioma Of Infancy
|
Congenital Vascular Hamartoma
|
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Congenital Vascular Naevus
|
Juvenile Hemangioma
|
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Strawberry Haemangioma
|
Strawberry Nevus
|
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Hemangioma Capillary
|
Hemangioma, Capillary
|
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Hemangioma, Cavernous
|
|
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| Torticollis |
|
Contracture Of Neck
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Wry Neck
|
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Wry Neck/Torticollis
|
|
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| Nail Disorder, Nonsyndromic Congenital, 9 |
|
Nail Dysplasia
|
NDNC9
|
|
Anonychia-Onycholysis, Isolated
|
Onychodystrophy
|
|
Nonsyndromic Congenital Nail Disorder 9
|
Dystrophia Unguium
|
|
|
| Nicolaides-Baraitser Syndrome |
|
NCBRS
|
Nbs
|
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Sparse Hair And Mental Retardation
|
Sparse Hair And Intellectual Disability
|
|
Intellectual Disability-Sparse Hair-Brachydactyly Syndrome
|
Nicolaides Baraitser Syndrome
|
|
|
| Trichomegaly |
|
Long Eyelashes
|
TCMGLY
|
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Goldstein Hutt Syndrome
|
Eyelashes, Long
|
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Movie Lashes
|
|
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| Hypermobile Ehlers-Danlos Syndrome |
|
Heds
|
Ehlers-Danlos Syndrome Type 3
|
|
Ehlers-Danlos Syndrome Hypermobility Type
|
Hypermobile Eds
|
|
Joint Hypermobility
|
Benign Joint Hypermobility Syndrome
|
|
Eds Hypermobility Type
|
Eds Type Iii
|
|
Ehlers-Danlos Syndrome Type Iii
|
Joint Hypermobility Syndrome
|
|
Eds3
|
Ehlers-Danlos Syndrome, Hypermobility Type
|
|
Eds Iii
|
Eds-Ht
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
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Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
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Micrencephalon
|
Micrencephaly
|
|
|
| Chromosome 6q24-Q25 Deletion Syndrome |
|
Chromosome 6q25-Q25 Deletion Syndrome
|
6q25 Microdeletion Syndrome
|
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Monosomy 6q25
|
Del(6)(Q25)
|
|
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| Speech Disorder |
|
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| Wiedemann-Steiner Syndrome |
|
WDSTS
|
Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
|
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Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome
|
Wiedemann Grosse Dibbern Syndrome
|
|
Kmt2a-Related Neurodevelopmental Disorder
|
Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay
|
|
Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay
|
Wss
|
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Growth Deficiency And Mental Retardation With Facial Dysmorphism
|
|
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| Rare Genetic Intellectual Disability |
|
|
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
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| Arid1b-Related Disorder |
|
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| Autism Spectrum Disorder |
|
Asd
|
Autism Spectrum Disorders
|
|
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
|
|
Childhood Autism
|
Kanner Syndrome
|
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Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
|
Autosomal Dominant Mental Retardation
|
Autosomal Dominant Non-Syndromic Mental Retardation
|
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Autosomal Dominant Non-Syndromic Intellectual Disability
|
Mental Retardation, Autosomal Dominant
|
|
|
| Clark-Baraitser Syndrome |
|
CLABARS
|
Baraitser Syndrome
|
|
Autosomal Dominant Intellectual Disability 49
|
Mental Retardation, Autosomal Dominant 49, Formerly
|
|
Mrd49, Formerly
|
Intellectual Developmental Disorder, Autosomal Dominant 49
|
|
Autosomal Dominant Mental Retardation 49
|
Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
|
|
Mrd49
|
Progeria Short Stature Pigmented Nevi
|
|
|
| Ovarian Clear Cell Carcinoma |
|
Clear-Cell Ovarian Carcinoma
|
|
|
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
|
| Papillary Adenofibroma |
|
|
| Neurilemmomatosis |
|
Schwannomatosis
|
Neurofibromatosis Type 3
|
|
Nf3
|
Neurilemmomatosis Congenital Cutaneous
|
|
Neurinomatosis
|
Congenital Cutaneous Neurilemmomatosis
|
|
Multiple Neurilemmomas
|
Multiple Schwannomas
|
|
Neurilemmomatosis, Congenital Cutaneous
|
Schwannomatosis 1
|
|
Neurofibromatosis 3
|
Mixed Central And Peripheral Neurofibromatosis
|
|
Nf3 - [Neurofibromatosis Type 3]
|
|
|
| Familial Isolated Trichomegaly |
|
|
| Ovarian Carcinosarcoma |
|
Ovarian Malignant Mixed Mullerian Tumor
|
Mmmt Of The Ovary
|
|
Malignant Mixed Mullerian Tumor Of The Ovary
|
Ovarian Malignant Mixed Epithelial Mesenchymal Tumor
|
|
Ovarian Malignant Mesodermal Mixed Tumor
|
Ovarian Mmmt
|
|
Malignant Mixed Müllerian Tumor Of The Ovary
|
Ovarian Malignant Mixed Müllerian Tumor
|
|
Carcinosarcoma Of Ovary
|
|
|
| Developmental And Epileptic Encephalopathy 60 |
|
DEE60
|
Epileptic Encephalopathy, Early Infantile, 60
|
|
Eiee60
|
Developmental And Epileptic Encephalopathy, 60
|
|
Early Infantile Epileptic Encephalopathy 60
|
|
|
| Bladder Urothelial Carcinoma |
|
Bladder Transitional Cell Carcinoma
|
Transitional Cell Carcinoma Of Bladder
|
|
Transitional Cell Carcinoma Of The Bladder
|
Urinary Bladder Urothelial Carcinoma
|
|
Urothelial Bladder Carcinoma
|
Carcinoma Transitional Cell Bladder
|
|
Tcc - [Transitional Cell Carcinoma] Of Bladder
|
|
|
| Laryngomalacia |
|
Congenital Laryngomalacia
|
Congenital Laryngeal Stridor
|
|
Laryngomalacia Congenital
|
Floppy Epiglottis
|
|
|
| Cardiofaciocutaneous Syndrome 1 |
|
Cardiofaciocutaneous Syndrome
|
Cfc Syndrome
|
|
Cardio-Facio-Cutaneous Syndrome
|
CFC1
|
|
Cfcs
|
Cardio-Facial-Cutaneous Syndrome
|
|
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure
|
Cardiofaciocutaneous Syndrome, Type 1
|
|
|
| Helsmoortel-Van Der Aa Syndrome |
|
HVDAS
|
Mrd28
|
|
Adnp Syndrome
|
Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder
|
|
Mental Retardation, Autosomal Dominant 28
|
Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
|
|
Mental Retardation, Autosomal Dominant 28, Formerly
|
Mrd28, Formerly
|
|
Autosomal Dominant Mental Retardation 28
|
Adnp-Related Intellectual Disability And Autism Spectrum Disorder
|
|
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
|
|
|
| Rhabdoid Cancer |
|
Rhabdoid Tumor
|
Malignant Rhabdoid Tumor
|
|
Malignant Rhabdoid Tumour
|
Rhabdoid Sarcoma
|
|
Rhabdoid Tumor Predisposition Syndrome 1
|
Rhabdoid Tumor Predisposition Syndrome 2
|
|
Atypical Teratoid Rhabdoid Tumor
|
Brain Tumor, Posterior Fossa, Of Infancy, Familial
|
|
Atypical Teratoid/Rhabdoid Tumor
|
|
|
| Endometrioid Ovary Carcinoma |
|
Endometrioid Carcinoma Of Ovary
|
Endometrioid Carcinoma Ovary
|
|
Ovarian Endometrioid Carcinoma
|
Malignant Ovarian Endometrioid Tumor
|
|
Ovarian Endometrioid Tumor
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| 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
|
|
|
| Developmental And Epileptic Encephalopathy 11 |
|
Epileptic Encephalopathy, Early Infantile, 11
|
DEE11
|
|
Eiee11
|
Developmental And Epileptic Encephalopathy, 11
|
|
Early Infantile Epileptic Encephalopathy 11
|
Encephalopathy, Developmental And Epileptic, Type 11
|
|
|
| Kbg Syndrome |
|
KBGS
|
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
|
|
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
|
|
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
|
Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
|
|
|
| Medulloblastoma |
|
MDB
|
Cpnet
|
|
Localized Primitive Neuroectodermal Tumor
|
Classic Medulloblastoma
|
|
Medulloblastoma Predisposition Syndrome
|
Medulloblastoma, Somatic
|
|
Brain Medulloblastoma
|
Cns Pnet
|
|
Infratentorial Primitive Neuroectodermal Tumor
|
Neuroectodermal Tumors, Primitive
|
|
Medulloblastomas
|
Desmoplastic Medulloblastoma
|
|
Medulloblastoma, With Extensive Nodularity
|
Medulloblastoma Of Unspecified Site
|
|
Medullomyoblastoma Of Unspecified Site
|
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
Rubinstein-Taybi Syndrome
|
Broad Thumb-Hallux Syndrome
|
|
Chromosome 16p13.3 Deletion Syndrome
|
Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
|
|
Rubinstein Syndrome
|
Broad Thumbs-Halluces Syndrome
|
|
Rsts
|
Rubinstein-Taybi Deletion Syndrome
|
|
Rsts Deletion Syndrome
|
Proximal Chromosome 16p13.3 Deletion Syndrome
|
|
16p13.3 Deletion Syndrome
|
Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
|
|
Rts
|
|
|
| Familial Thyroid Dyshormonogenesis |
|
Thyroid Dyshormonogenesis
|
Familial Dyshormonogenetic Goiter
|
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Syndromic Intellectual Disability |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
