| 疾病名称 |
别名 |
|
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
MRD5
|
Autosomal Dominant Non-Syndromic Intellectual Disability 5
|
|
Intellectual Disability, Autosomal Dominant 5
|
Mental Retardation, Autosomal Dominant 5
|
|
Autosomal Dominant Intellectual Developmental Disorder 5
|
Syngap1-Related Non-Syndromic Intellectual Disability
|
|
Autosomal Dominant Intellectual Disability 5
|
Syngap1 Syndrome
|
|
Syngap1-Related Nsid
|
Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia And Autism
|
|
|
| Syngap1-Related Intellectual Disability |
|
Syngap1-Related Developmental And Epileptic Encephalopathy
|
Syngap1-Related Developmental Epileptic Encephalopathy
|
|
Mrd5
|
Syngap1-Related Dee
|
|
Mental Retardation, Autosomal Dominant 5
|
|
|
| Infantile Epilepsy Syndrome |
|
|
| Non-Specific Syndromic Intellectual Disability |
|
Complex Neurodevelopmental Disorder
|
|
|
| Epilepsy With Myoclonic-Atonic Seizures |
|
Myoclonic Astatic Epilepsy
|
Doose Syndrome
|
|
Epilepsy With Myoclonic-Astatic Seizures
|
Epilepsy With Myoclono-Astatic Crisis
|
|
Myoclonic-Astatic Epilepsy
|
Emas
|
|
Mae
|
Myoclonic Atonic Epilepsy
|
|
Myoclonic-Astatic Epilepsy In Early Childhood
|
|
|
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
|
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
MRT5
|
Mental Retardation, Autosomal Recessive 5
|
|
Autosomal Recessive Intellectual Developmental Disorder 5
|
Mental Retardation, Autosomal Recessive, 5
|
|
Mental Retardation, Autosomal Recessive, Type 5
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Motor Stereotypies |
|
|
| Stereotypic Movement Disorder |
|
Stereotypy Habit Disorder
|
Stereotyped Repetitive Movements
|
|
Stereotyped Disorder
|
Stereotypes Nos
|
|
Stereotype Habit Disorder
|
|
|
| Fragile X Syndrome |
|
FXS
|
Martin-Bell Syndrome
|
|
Fraxa Syndrome
|
Marker X Syndrome
|
|
X-Linked Mental Retardation And Macroorchidism
|
Fragile X Mental Retardation Syndrome
|
|
Fra Syndrome
|
Mental Retardation, X-Linked, Associated With Marxq28
|
|
X-Linked Intellectual Disability And Macroorchidism
|
Frax Syndrome
|
|
Symptomatic Form Of Fragile X Syndrome In Female Carriers
|
Fragile-X Syndrome
|
|
Fraxe Syndrome
|
|
|
| Angiokeratoma Circumscriptum |
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Hemangioma Of Intra-Abdominal Structure |
|
Hemangioma Of Intra-Abdominal Structures
|
Hemangioma, Intra-Abdominal
|
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Sturge-Weber Syndrome |
|
SWS
|
Encephalotrigeminal Angiomatosis
|
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Encephalofacial Angiomatosis
|
Sturge-Weber-Dimitri Syndrome
|
|
Sturge-Weber-Krabbe Syndrome
|
Fourth Phacomatosis
|
|
Leptomeningeal Angiomatosis
|
Meningeal Capillary Angiomatosis
|
|
Sturge-Weber-Krabbe Angiomatosis
|
Sturge-Weber Syndrome, Somatic, Mosaic
|
|
Sws Type I - Facial And Leptomeningeal Angiomas
|
Sws Type Ii - Facial Angioma Alone, No Cns Involvement
|
|
Sws Type Iii - Isolated Leptomeningeal Angiomas
|
Sturge Weber Syndrome
|
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Angiomatosis Aculoorbital-Thalamic Syndrome
|
Encephalofacial Hemangiomatosis
|
|
Encephalofacial Hemangiomatosis Syndrome
|
Meningo-Oculo-Facial Angiomatosis
|
|
Meningofacial Angiomatosis-Cerebral Calcification Syndrome
|
Neuroretinoangiomatosis
|
|
Phakomatosis, Sturge-Weber
|
Weber-Sturge-Dimitri Syndrome
|
|
|
| Reflex Epilepsy |
|
Epilepsy, Reflex
|
Epilepsy, Sensory-Induced
|
|
Epilepsy Reflex
|
|
|
| Arteriovenous Malformation |
|
Arteriovenous Malformations
|
Arteriovenous Hemangioma
|
|
Cirsoid Aneurysm
|
Racemose Aneurysm
|
|
Racemose Angioma
|
Racemose Hemangioma
|
|
Congenital Arteriovenous Malformation
|
|
|
| Lymphatic Malformation 12 |
|
Central Conducting Lymphatic Anomaly
|
LMPHM12
|
|
Ccla
|
Lymphatic Malformation-7
|
|
Doid:0081030
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| Rett Syndrome |
|
Atypical Rett Syndrome
|
RTT
|
|
Rett Disorder
|
Rts
|
|
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
|
Rett Syndrome, Atypical
|
Rett'S Disorder
|
|
Rett Syndrome Variant
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
|
Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
|
Rett'S Syndrome
|
Atypical Rtt
|
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
|
Rett Syndrome Preserved Speech Variant
|
|
Rett Syndrome Zappella Variant
|
Rett Syndrome, Zappella Variant
|
|
|
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Cloves Syndrome
|
Clove Syndrome
|
|
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities
|
Clove Syndrome, Somatic
|
|
Nevus
|
Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi
|
|
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome
|
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome
|
|
CLOVE
|
Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities
|
|
Congenital Arteriovenous Malformation
|
Arteriovenous Hemangioma
|
|
Melanocytic Nevus
|
Benign Melanocytic Nevus
|
|
|
| Proteus Syndrome |
|
Proteus Syndrome, Somatic
|
Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome
|
|
Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly
|
Wiedemann'S Syndrome
|
|
Hemihypertrophy And Macrocephaly
|
Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly
|
|
Ps
|
PROTEUSS
|
|
Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly
|
|
|
| Tuberous Sclerosis |
|
Tuberous Sclerosis Syndrome
|
Bourneville'S Disease
|
|
Epiloia
|
Cerebral Sclerosis
|
|
Tuberose Sclerosis
|
Tuberous Sclerosis 1
|
|
Bourneville Disease
|
Bourneville Phakomatosis
|
|
Pringle'S Disease
|
|
|
| Klippel-Trenaunay-Weber Syndrome |
|
Klippel-Trenaunay Syndrome
|
KTS
|
|
Ktw Syndrome
|
Angioosteohypertrophy Syndrome
|
|
Angio-Osteohypertrophy Syndrome
|
Klippel Trenaunay Syndrome
|
|
Klippel-Trénaunay-Weber Syndrome
|
Haemangiectatic Hypertrophy
|
|
Weber-Klippel-Trenaunay
|
Congenital Dysplastic Angiopathy
|
|
Klippel-Trenaunay Disease
|
Weber Klippel Trenaunay
|
|
|
| Cardiovascular Organ Benign Neoplasm |
|
|
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
VMCM
|
Multiple Cutaneous And Mucosal Venous Malformations
|
|
Mucocutaneous Venous Malformations
|
Vmcm1
|
|
Cutaneous And Mucosal Venous Malformation
|
Dominantly Inherited Venous Malformations
|
|
|
| Taylor'S Syndrome |
|
Pelvic Congestion Syndrome
|
Congestion-Fibrosis Syndrome
|
|
Taylor Syndrome
|
|
|
| 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
|
|
|
| Cowden Syndrome 1 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
Pten Hamartoma Tumor Syndrome
|
|
Lhermitte-Duclos Disease
|
Bannayan-Zonana Syndrome
|
|
Phts
|
Riley-Smith Syndrome
|
|
Bzs
|
Ruvalcaba-Myhre-Smith Syndrome
|
|
Multiple Hamartoma Syndrome
|
Rmss
|
|
Brrs
|
Dysplastic Gangliocytoma Of The Cerebellum
|
|
CWS1
|
Cs
|
|
Cd
|
Mham
|
|
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
Macrocephaly Multiple Lipomas And Hemangiomata
|
|
Bannayan-Ruvalcaba-Riley Syndrome
|
Myhre-Riley-Smith Syndrome
|
|
LDD
|
Cerebelloparenchymal Disorder Vi
|
|
Hamartoma Syndrome, Multiple
|
Bbrs
|
|
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
|
Macrocephaly, Multiple Lipomas, And Hemangiomata
|
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomas
|
Ruvalcaba -Myhre-Smith Syndrome
|
|
Ruvalcaba-Myhre Syndrome
|
Cowden Disease
|
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomata
|
Cerebellar Granule Cell Hypertrophy And Megalencephaly
|
|
Cpd6
|
Pten Hamartoma Tumor Syndromes
|
|
Cowden Syndrome, Type 1
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| Intracranial Cavernous Angioma |
|
Intracranial Cavernoma
|
Intracranial Cavernous Hemangioma
|
|
|
| Intracranial Structure Hemangioma |
|
Angioma Of Intracranial Structure
|
Hemangioma Of Intracranial Structure
|
|
Hemangioma Of Intracranial Structures
|
|
|
| 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
|
|
|
| Schuurs-Hoeijmakers Syndrome |
|
SHMS
|
Pacs1-Related Syndrome
|
|
Mrd17
|
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
|
|
Intellectual Developmental Disorder, Autosomal Dominant 17
|
Autosomal Dominant Intellectual Disability-17
|
|
Autosomal Dominant Mental Retardation 17
|
Pacs1 Syndrome
|
|
Mental Retardation, Autosomal Dominant 17
|
|
|
| Capillary Hemangioma |
|
Infantile Hemangioma
|
Strawberry Nevus Of Skin
|
|
Cellular Hemangioma Of Infancy
|
Congenital Vascular Hamartoma
|
|
Congenital Vascular Naevus
|
Juvenile Hemangioma
|
|
Strawberry Haemangioma
|
Strawberry Nevus
|
|
Hemangioma Capillary
|
Hemangioma, Capillary
|
|
Hemangioma, Cavernous
|
|
|
| Infiltrating Angiolipoma |
|
Angiolipoma, Infiltrating
|
|
|
| Capillary Lymphangioma |
|
Microcystic Lymphatic Malformation
|
Capillary Lymphatic Malformation
|
|
Microcystic Infiltrating Lymphatic Malformation
|
Microcystic Lymphangioma
|
|
Superficial Lymphangioma
|
Cutaneous Lymphangioma Circumscriptum
|
|
Superficial Lymphatic Malformation
|
Cutaneous Lymphangioma
|
|
Lymphangioma Of Skin
|
Lymphangioma Circumscriptum
|
|
|
| Arteriovenous Malformations Of The Brain |
|
Cerebral Arteriovenous Malformation
|
Intracranial Arteriovenous Malformation
|
|
Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To
|
Intracranial Arteriovenous Malformations
|
|
Bavm
|
Cerebral Arteriovenous Malformations
|
|
Intracranial Hemorrhage In Brain Cerebrovascular Malformations
|
Arteriovenous Malformation Of The Brain, Somatic
|
|
Intracranial Avm
|
Arteriovenous Malformations Cerebral
|
|
|
| Costello Syndrome |
|
Faciocutaneoskeletal Syndrome
|
Fcs Syndrome
|
|
Congenital Myopathy With Excess Of Muscle Spindles
|
CSTLO
|
|
CMEMS
|
Fcss
|
|
Myopathy, Congenital, With Excess Of Muscle Spindles
|
|
|
| Noonan Syndrome With Multiple Lentigines |
|
Leopard Syndrome
|
Multiple Lentigines Syndrome
|
|
Moynahan Syndrome
|
Cardiomyopathic Lentiginosis
|
|
Progressive Cardiomyopathic Lentiginosis
|
Cardio-Cutaneous Syndrome
|
|
Lentiginosis Profusa
|
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome
|
|
Generalized Lentiginosis
|
Gorlin Syndrome Ii
|
|
Lentiginosis Profusa Syndrome
|
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes
|
|
Diffuse Lentiginosis
|
Nsml
|
|
Familial Multiple Lentigines Syndrome
|
Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type
|
|
Progressive Cardiomyopathic Lentiginosis Syndrome
|
Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
|
|
|
| Nevus, Epidermal |
|
Epidermal Nevus
|
Woolly Hair Nevus
|
|
Epidermal Naevus
|
Epidermal Nevus Syndrome
|
|
Nevus, Keratinocytic, Nonepidermolytic
|
Epidermal Nevus, Somatic
|
|
Nevus, Epidermal, Somatic
|
Nevus Sebaceous Or Woolly Hair Nevus, Somatic
|
|
Nonepidermolytic Keratinocytic Nevus
|
Epidermal Hamartoma Syndrome
|
|
Wooly Hair Nevus
|
Keratinocytic Non-Epidermolytic Nevus
|
|
KNEN
|
Pigmented Moles
|
|
Organoid Nevus Phakomatosis
|
Nevus Sebaceous
|
|
Melanocytic Nevus
|
Melanocytic Nevus Of Skin
|
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
Rendu-Osler-Weber Disease
|
Hht
|
|
Osler-Weber-Rendu Disease
|
Telangiectasia, Hereditary Hemorrhagic
|
|
Osler Hemorrhagic Telangiectasia Syndrome
|
Orw Disease
|
|
Osler Weber Rendu Syndrome
|
Osler-Rendu-Weber Disease
|
|
Osler-Weber-Rendu Syndrome
|
Rendu-Osler Disease
|
|
Telangiectasia Hereditary Hemorrhagic
|
Telangiectasia Hemorrhagic, Hereditary
|
|
Hht - [Hereditary Haemorrhagic Telangiectasia]
|
Osler Haemorrhagic Telangiectasia Syndrome
|
|
|
| Lennox-Gastaut Syndrome |
|
Lennox Syndrome
|
Encephalopathy Of Childhood
|
|
Epileptic Encephalopathy Lennox-Gastaut Type
|
Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
|
|
Lgs
|
|
|
| Dravet Syndrome |
|
Severe Myoclonic Epilepsy Of Infancy
|
Severe Myoclonic Epilepsy In Infancy
|
|
Smei
|
Epileptic Encephalopathy, Early Infantile, 6
|
|
DRVT
|
Developmental And Epileptic Encephalopathy 6a
|
|
Dee6a
|
Eiee6
|
|
Developmental And Epileptic Encephalopathy, 6
|
Dee6
|
|
Developmental And Epileptic Encephalopathy 6
|
Early Infantile Epileptic Encephalopathy 6
|
|
Myoclonic Epilepsy, Severe, Of Infancy
|
Sme
|
|
Severe Myoclonus Epilepsy Of Infancy
|
Borderline Smei
|
|
Smeb
|
Smeb-M
|
|
Smeb-O
|
Smeb-Sw
|
|
Smei-Borderland
|
Smei-Borderland More Than One Feature
|
|
Smei-Borderland-Myoclonic Seizures
|
Smei-Borderland-Spike Wave
|
|
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures
|
ICEGTC
|
|
Infantile Severe Myoclonic Epilepsy
|
Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
|
|
|
| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
|
Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Early Myoclonic Encephalopathy |
|
Myoclonic Epilepsy
|
Myoclonic Seizure
|
|
Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
|
|
Epileptic Seizures, Myoclonic
|
Myoclonia Epileptica
|
|
Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Developmental And Epileptic Encephalopathy |
|
Encephalopathy, Developmental And Epileptic
|
|
|
| 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
|
|
|
| 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
|
|
|
| Syndromic Intellectual Disability |
|
|
| Early Infantile Epileptic Encephalopathy |
|
Early Infantile Epileptic Encephalopathy With Burst-Suppression
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
|
Eiee
|
Early Infantile Epileptic Encephalopathy With Suppression-Bursts
|
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
