| 疾病名称 |
别名 |
|
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
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HYC2
|
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Hydrocephalus, Nonsyndromic, Autosomal Recessive 2, Formerly
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Hydrocephalus, Non-Syndromic, Autosomal Recessive 2
|
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Hydrocephalus
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Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
|
|
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| Congenital Communicating Hydrocephalus |
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Congenital Non-Obstructive Hydrocephalus
|
|
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| Congenital Hydrocephalus |
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Hydrocephalus
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Hydrocephalus Adverse Event
|
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Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
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Hydrocephalus In Newborn
|
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Congenital Hydrocephaly
|
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| Hydrocephalus |
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Hydrocephalus, Nonsyndromic, Autosomal Recessive
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Hydrocephalus, X-Linked
|
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Hydrocephalus Adverse Event
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Hydrocephaly Nos
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|
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| Ventriculomegaly With Cystic Kidney Disease |
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VMCKD
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Cystic Kidney Disease With Ventriculomegaly
|
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Ventriculomegaly-Cystic Kidney Disease
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Ventriculomegaly - Cystic Kidney Disease
|
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Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome
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|
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| Myasthenic Syndrome, Congenital, 1a, Slow-Channel |
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Congenital Myasthenic Syndrome 1a
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Congenital Myasthenic Syndrome 2a
|
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CMS1A
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Cms Iia
|
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Congenital Myasthenic Syndrome Type Iia
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Cms2a
|
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Myasthenic Syndrome, Congenital, Type Iia, Formerly
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Cms2a, Formerly
|
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Cms Iia, Formerly
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Congenital Myasthenic Syndrome 1a, Slow-Channel
|
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Congenital Myasthenic Syndrome 2a Slow-Channel
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Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel
|
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Myasthenic Syndrome, Congenital, Slow-Channel
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Sccms
|
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Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel
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Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel
|
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Myasthenic Syndromes, Congenital, Slow Channel
|
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| Intraorbital Meningioma |
|
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| Corneal Endothelial Dystrophy |
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Congenital Hereditary Endothelial Dystrophy Of Cornea
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Chandler Syndrome
|
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CHED
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Chandler'S Syndrome
|
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Endothelial Corneal Dystrophy
|
Ched2
|
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Maumenee Corneal Dystrophy
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Corneal Dystrophy, Congenital Hereditary Endothelial
|
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Dystrophy Of Corneal Endothelium
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Corneal Endothelial Dystrophy 2
|
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Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly
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Ched2, Formerly
|
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Corneal Endothelial Dystrophy, Autosomal Recessive
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Endothelial Dystrophy
|
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Posterior Membrane Corneal Dystrophy
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Corneal Endothelial Dystrophy Type 2
|
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Congenital Hereditary Endothelial Dystrophy Of The Cornea
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Congenital Hereditary Endothelial Dystrophy Type Ii
|
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Autosomal Recessive Ched
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Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
|
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Chedii
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Congenital Hereditary Endothelial Dystrophy Type 2
|
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Infantile Hereditary Endothelial Dystrophy
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Congenital Hereditary Endothelial Corneal Dystrophy
|
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Corneal Endothelial Dystrophy 2, Autosomal Recessive
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Iridocorneal Endothelial Syndrome
|
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Dystrophy, Corneal, Endothelial
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Corneal Endothelial Dystrophy 1, Autosomal Dominant
|
|
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| Keratoconus |
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Kc
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Conical Cornea
|
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Noninflammatory Corneal Thining
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Bulging Cornea
|
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Cornea Conical
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Acquired Conus Of Cornea
|
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| Hyperekplexia 1 |
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HKPX1
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Exaggerated Startle Reaction
|
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Sthe
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Stiff-Baby Syndrome
|
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Kok Disease
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Startle Disease, Familial
|
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Startle Reaction, Exaggerated
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Stiff-Man Syndrome, Congenital
|
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Stiff-Person Syndrome, Congenital
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Congenital Stiff-Man Syndrome
|
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Congenital Stiff-Person Syndrome
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Familial Startle Disease
|
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Hereditary Hyperexplexia 1
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Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive
|
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Hyperekplexia
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Hereditary Hyperexplexia
|
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Stiff-Person Syndrome
|
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| Cardiofaciocutaneous Syndrome 1 |
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Cardiofaciocutaneous Syndrome
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Cfc Syndrome
|
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Cardio-Facio-Cutaneous Syndrome
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CFC1
|
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Cfcs
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Cardio-Facial-Cutaneous Syndrome
|
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Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure
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Cardiofaciocutaneous Syndrome, Type 1
|
|
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| Pettigrew Syndrome |
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PGS
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Mrxs5
|
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Mrx59
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Mrxs21
|
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X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
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Mental Retardation, X-Linked, Syndromic 5
|
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Mrxsf
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Syndromic X-Linked Intellectual Disability 5
|
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Fried Syndrome
|
Mental Retardation, X-Linked Syndromic 5
|
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Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
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Mental Retardation, X-Linked, Syndromic, Fried Type
|
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Mental Retardation, X-Linked, Syndromic 21
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Syndromic X-Linked Mental Retardation 21
|
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Syndromic X-Linked Mental Retardation Fried Type
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X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
|
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Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An
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Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures
|
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X-Linked Syndromic Intellectual Disability 5
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X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures
|
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X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures
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X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
|
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Mental Retardation, X-Linked Syndromic, Fried Type
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Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures
|
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Mental Retardation, X-Linked 59
|
|
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| Irregular Astigmatism |
|
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| Obstructive Hydrocephalus |
|
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| Communicating Hydrocephalus |
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Acquired Communicating Hydrocephalus
|
|
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| Dandy-Walker Syndrome |
|
Dandy-Walker Malformation
|
DWS
|
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Atresia Of Foramina Of Magendie And Luschka
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Dandy-Walker Complex
|
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Dandy-Walker Cyst
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Dandy-Walker Deformity
|
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Dandy Walker Cyst
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Dw Complex
|
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Dandy-Walker Syndrome Or Malformation
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Dandy-Walker Variant
|
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Mega Cisterna Magna
|
Dwm
|
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Hydrocephalus, Internal, Dandy-Walker Type
|
Hydrocephalus, Noncommunicating, Dandy-Walker Type
|
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Luschka-Magendie Foramina Atresia
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Isolated Dandy-Walker Malformation
|
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Mega-Cisterna Magna
|
Dandy Walker Variant
|
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Atresia Of Foramen Of Luschka
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Atresia Of Foramen Of Magendie
|
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Congenital Blockage Of Foramen Magendie
|
|
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| Lissencephaly |
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Pachygyria
|
Broad Gyri Of Cerebrum
|
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Large Gyri Of Cerebrum
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Macrogyria
|
|
|
| Fuchs' Endothelial Dystrophy |
|
Fuchs Endothelial Corneal Dystrophy
|
Fuchs Endothelial Dystrophy
|
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Fuchs Dystrophy
|
Fced
|
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Fuchs' Corneal Dystrophy
|
Fuchs' Endothelial Corneal Dystrophy
|
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Fuchs Atrophy
|
Fuchs Corneal Dystrophy
|
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Endoepithelial Corneal Dystrophy
|
Fecd
|
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Late Hereditary Endothelial Dystrophy
|
Corneal Dystrophy, Fuchs Endothelial
|
|
Dystrophy, Corneal, Fuchs Endothelial
|
Corneal Dystrophy, Fuchs' Endothelial, 1
|
|
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| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
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Cone-Rod Retinal Dystrophy
|
Rcrd2
|
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Cone-Rod Retinal Dystrophy 2
|
Crd2
|
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Cord
|
Crd
|
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Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
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Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
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Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
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Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
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Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
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Progressive Cone-Rod Dystrophy
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
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Leber'S Amaurosis
|
Leber'S Disease
|
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Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
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Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
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Congenital Retinal Blindness
|
Crb
|
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Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
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Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
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Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
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Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
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Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
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Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
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Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
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Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
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Optic Atrophy, Hereditary, Leber
|
|
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| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
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