| 疾病名称 |
别名 |
|
| Pigmented Paravenous Chorioretinal Atrophy |
|
Pigmented Paravenous Retinochoroidal Atrophy
|
PPCRA
|
|
Pprca
|
Atrophy, Chorioretinal, Pigmented Paravenous
|
|
|
| Leber Congenital Amaurosis 8 |
|
LCA8
|
Leber Congenital Amaurosis, Type 8
|
|
|
| Retinitis Pigmentosa 12 |
|
RP12
|
Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium
|
|
Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium
|
Rp With Or Without Pprpe
|
|
Retinitis Pigmentosa-12
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Leber Congenital Amaurosis 1 |
|
LCA1
|
Amaurosis Congenita Of Leber I
|
|
Lca
|
Retinal Blindness, Congenital
|
|
Crb
|
Leber Congenital Amaurosis Type I
|
|
Leber Congenital Amaurosis, Type 1
|
Amaurosis Congenita Of Leber, Type 1
|
|
|
| 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
|
|
|
| Stargardt Disease |
|
Stargardt Disease 1
|
Stargardt Macular Dystrophy
|
|
Stargardt Disease-1
|
Juvenile Onset Macular Degeneration
|
|
Stargardt Macular Degeneration
|
Juvenile Macular Degeneration
|
|
Macular Dystrophy With Flecks, Type 1
|
Stgd
|
|
Fundus Flavimaculatus
|
Stargardt 1
|
|
Stargardts Disease
|
|
|
| Nanophthalmos |
|
|
| Stargardt Disease 1 |
|
Fundus Flavimaculatus
|
STGD1
|
|
Retinal Dystrophy, Early-Onset Severe
|
Macular Dystrophy With Flecks, Type 1
|
|
Stargardt'S Disease
|
Stgd
|
|
Macular Degeneration, Juvenile
|
Macular Degeneration Juvenile
|
|
FFM
|
Juvenile Macular Degeneration
|
|
Macular Dystrophy With Flecks Type 1
|
Early Onset And Severe Retinal Dystrophy
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| Bestrophinopathy, Autosomal Recessive |
|
Bestrophinopathy
|
Autosomal Recessive Bestrophinopathy
|
|
ARB
|
Bestrophinopathies
|
|
Retinopathy, Burgess-Black Type
|
Retinopathy Burgess-Black Type
|
|
|
| Retinal Degeneration |
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinoschisis
|
X-Linked Retinoschisis
|
|
X-Linked Juvenile Retinoschisis
|
RS1
|
|
XLRS1
|
X-Linked Juvenile Retinoschisis 1
|
|
Xlrs
|
Retinoschisis, X-Linked
|
|
Rs
|
Congenital X-Linked Retinoschisis
|
|
Degenerative Retinoschisis
|
Juvenile Retinoschisis
|
|
Xjr
|
Retinoschisis Juvenile X-Linked 1
|
|
Retinoschisis, Juvenile, X-Linked
|
Retinoschisis, Degenerative
|
|
|
| Retinitis |
|
|
| Keratoconus |
|
Kc
|
Conical Cornea
|
|
Noninflammatory Corneal Thining
|
Bulging Cornea
|
|
Cornea Conical
|
Acquired Conus Of Cornea
|
|
|
| Retinal Telangiectasia |
|
|
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid Macular Edema
|
DCMD
|
|
Cystoid Macular Dystrophy
|
Macular Edema, Cystoid
|
|
Autosomal Dominant Cystoid Macular Edema
|
Cymd
|
|
Mddc
|
Familial Macular Edema
|
|
Macular Edema
|
Macular Retinal Edema
|
|
|
| Optic Disk Drusen |
|
Optic Disc Drusen
|
Drusen Of Optic Disc
|
|
Optic Nerve Head Drusen
|
Drusen Optic Disc
|
|
|
| Chorioretinal Scar |
|
Chorioretinal Cicatrix
|
Cicatrix Of Choroid
|
|
Choroid Scar
|
Macula Scar
|
|
Macular Scarring
|
Retinal Cicatrix
|
|
Retinal Scar
|
|
|
| Leber Congenital Amaurosis 3 |
|
LCA3
|
Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive
|
|
Leber Congenital Amaurosis, Type 3
|
Leber Congenital Amaurosis Type 3
|
|
|
| Pseudopapilledema |
|
|
| Pseudoretinitis Pigmentosa |
|
Secondary Pigmentary Retinal Degeneration
|
Secondary Pigmentary Degeneration Of Retina
|
|
|
| Hereditary Retinal Dystrophy |
|
Hereditary Retinal Dystrophies
|
|
|
| Late-Onset Retinal Degeneration |
|
LORD
|
Retinal Degeneration, Late-Onset, Autosomal Dominant
|
|
Autosomal Dominant Late-Onset Retinal Degeneration
|
Pigmentary Retinopathy
|
|
Retinal Degeneration, Late-Onset
|
Retinitis Pigmentosa
|
|
|
| Leber Congenital Amaurosis 9 |
|
LCA9
|
Leber Congenital Amaurosis, Type 9
|
|
|
| Leber Congenital Amaurosis 7 |
|
LCA7
|
Leber Congenital Amaurosis, Type 7
|
|
|
| Leber Congenital Amaurosis 11 |
|
LCA11
|
Leber Congenital Amaurosis, Type 11
|
|
|
| Leber Congenital Amaurosis 16 |
|
LCA16
|
Leber Congenital Amaurosis, Type 16
|
|
|
| Microphthalmia, Isolated 6 |
|
Isolated Microphthalmia 6
|
MCOP6
|
|
Microphthalmia, Posterior Nonsyndromic
|
Posterior Nonsyndromic Microphthalmia
|
|
Microphthalmia, Isolated, 6
|
Autosomal Recessive Posterior Microphthalmos
|
|
Posterior Non-Syndromic Microphthalmia
|
Microphthalmia, Isolated, Type 6
|
|
|
| Eye Degenerative Disease |
|
|
| Leber Congenital Amaurosis 4 |
|
LCA4
|
Retinitis Pigmentosa, Juvenile
|
|
Cone-Rod Dystrophy
|
Leber Congenital Amaurosis, Type 4
|
|
Retinitis Pigmentosa
|
|
|
| Leber Congenital Amaurosis 6 |
|
LCA6
|
Leber Congenital Amaurosis, Type 6
|
|
|
| Macular Retinal Edema |
|
Macular Edema
|
Macular Oedema
|
|
Macular Retinal Oedema
|
Macular Edema, Cystoid
|
|
|
| Barre-Lieou Syndrome |
|
Cervicocranial Syndrome
|
Posterior Cervical Sympathetic Syndrome
|
|
|
| Leber Congenital Amaurosis 2 |
|
LCA2
|
Amaurosis Congenita Of Leber Ii
|
|
Amaurosis Congenita Of Leber, Type 2
|
Leber Congenital Amaurosis Type Ii
|
|
Leber Congenital Amaurosis, Type 2
|
Leber Congenital Amaurosis, Type Ii
|
|
|
| Aqueous Misdirection |
|
|
| Macular Degeneration, Age-Related, 1 |
|
Macular Degeneration
|
Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
|
Age Related Macular Degeneration 1
|
ARMD1
|
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
|
Age Related Maculopathies
|
Age Related Maculopathy
|
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
|
Age-Related Maculopathy
|
Amd
|
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
|
Macular Degeneration, Age-Related, 2
|
|
|
| Enhanced S-Cone Syndrome |
|
Goldmann-Favre Syndrome
|
ESCS
|
|
Favre Hyaloideoretinal Degeneration
|
Retinoschisis With Early Hemeralopia
|
|
Retinoschisis With Early Nyctalopia
|
Enhanced S Cone Syndrome
|
|
S-Cone Syndrome, Enhanced
|
|
|
| Gapo Syndrome |
|
GAPOS
|
Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy
|
|
Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome
|
Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy
|
|
|
| Leber Congenital Amaurosis 10 |
|
LCA10
|
Leber Congenital Amaurosis, Type 10
|
|
|
| Fundus Albipunctatus |
|
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
|
RPA
|
Albipunctate Retinal Dystrophy
|
|
Lauber'S Disease
|
FALBI
|
|
Fa
|
|
|
| Congenital Syphilis |
|
Syphilis, Congenital
|
Congenital Syphilis, Unspecified
|
|
Mtct Of Syphilis
|
Mother-To-Child Transmission Of Syphilis
|
|
Syphilis Congenital
|
Hereditary Syphilis
|
|
Heredosyphilis
|
|
|
| Enophthalmos |
|
|
| Refractive Error |
|
|
| Acute Closed-Angle Glaucoma |
|
Acute Angle-Closure Glaucoma
|
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
| Choroid Disease |
|
Choroid Diseases
|
Abnormality Of The Choroid
|
|
|
| Vitreous Syneresis |
|
|
| Chorioretinitis |
|
|
| Coats Disease |
|
Exudative Retinopathy
|
Retinal Telangiectasis
|
|
Coats' Disease
|
Leber Miliary Aneurysm
|
|
Coats' Syndrome
|
Congenital Retinal Telangiectasia
|
|
|
| Vitelliform Macular Dystrophy |
|
Best Disease
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
|
Macular Dystrophy, Vitelliform
|
Best Macular Dystrophy
|
|
Vitelliform Dystrophy
|
|
|
| Senior-Loken Syndrome 1 |
|
Senior-Loken Syndrome
|
Renal Dysplasia And Retinal Aplasia
|
|
Renal-Retinal Syndrome
|
Loken-Senior Syndrome
|
|
Juvenile Nephronophthisis With Leber Amaurosis
|
SLSN1
|
|
Senior-Loken Syndrome-1
|
Loken Senior Syndrome
|
|
Senior Loken Syndrome
|
Renal Dysplasia Retinal Aplasia
|
|
Nephronophthisis With Retinal Dystrophy
|
Renal Dysplasia-Retinal Aplasia Syndrome
|
|
Slsn
|
|
|
| Choroidal Dystrophy, Central Areolar, 1 |
|
Choroidal Sclerosis
|
Choroidal Dystrophy
|
|
Choroidal Dystrophy, Central Areolar
|
Cacd
|
|
Central Areolar Choroidal Dystrophy
|
CACD1
|
|
Choroidal Dystrophy, Central Areolar 1
|
Choroidal Dystrophy Central Areolar
|
|
Central Areolar Choroidal Sclerosis
|
Choroidal Degenerations
|
|
Areolar Atrophy Of The Macula
|
Partial Central Choroid Dystrophy
|
|
Degenerative Choroidopathy
|
Chorioretinal Degeneration
|
|
Hereditary Chorioretinal Degeneration
|
Hereditary Degeneration Of Choroid
|
|
Hereditary Choroidal Dystrophies
|
Generalised Choroidal Dystrophy
|
|
Hereditary Choroidopathy
|
|
|
| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
|
Cone Dystrophy 3
|
|
|
| Degeneration Of Macula And Posterior Pole |
|
Degeneration Of Macula And Posterior Pole Of Retina
|
Degeneration Of Macula Or Posterior Pole
|
|
Macular Degeneration Nos
|
Degenerative Disorder Of Macula
|
|
Drusen Macular Degeneration
|
Posterior Pole Macular Degeneration Of Eye
|
|
Macular Eye Degeneration
|
Macular Degeneration Of Retina, Unspecified
|
|
Pseudohole Degeneration Of Macula Of Retina
|
|
|
| Night Blindness |
|
|
| Achromatopsia |
|
Achm
|
Rod Monochromatism
|
|
Total Color Blindness
|
Rod Monochromacy
|
|
Monochromatism
|
Achromatism
|
|
Complete Or Incomplete Color Blindness
|
Pingelapese Blindness
|
|
Achromatopsia 1
|
Achromatopsia 2
|
|
Achromatopsia 3
|
|
|
| Congenital Stationary Night Blindness |
|
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
|
| Color Blindness |
|
Color Vision Defect
|
Blindness Color
|
|
Colour Blindness
|
Colour Vision Deficiency
|
|
Color Vision Deficiency
|
Color Vision Defects
|
|
Defective Color Vision
|
Vision Defect, Color
|
|
Color-Vision Disease
|
Dyschromatopsia
|
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
DHRD
|
Doyne Honeycomb Degeneration Of Retina
|
|
Dhd
|
Malattia Leventinese
|
|
Ml
|
Mlvt
|
|
Dystrophy, Retinal, Doyne Honeycomb
|
|
|
| Retinal Disease |
|
Retinal Diseases
|
Retinal Disorder
|
|
Retinal Disorders
|
|
|
| Usher Syndrome |
|
Deafness-Retinitis Pigmentosa Syndrome
|
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
|
|
Graefe-Usher Syndrome
|
Hallgren Syndrome
|
|
Usher'S Syndrome
|
Retinitis Pigmentosa-Deafness Syndrome
|
|
Retinitis Pigmentosa-Hearing Loss Syndrome
|
Ush
|
|
Usher Syndromes
|
|
|
| Usher Syndrome, Type Iia |
|
Usher Syndrome Type 2a
|
USH2A
|
|
Usher Syndrome, Type 2a
|
Usher Syndrome Type Iia
|
|
Retinal Disease In Usher Syndrome Type Iia, Modifier Of
|
Us2
|
|
Ush2
|
Usher Syndrome 2a
|
|
Usher'S Syndrome Type 2a
|
Ushiia
|
|
|
| Physical Disorder |
|
|
| Exudative Vitreoretinopathy |
|
Familial Exudative Vitreoretinopathy
|
Fevr
|
|
Criswick-Schepens Syndrome
|
Exudative Vitreoretinopathy, Familial
|
|
Vitreoretinopathy, Exudative )
|
Exudative Vitreoretinopathy 1
|
|
|
| Esotropia |
|
Convergence In Manifest Squint
|
Crossed Eyes
|
|
Internal Strabismus
|
Convergent Concomitant Strabismus
|
|
Convergent Squint
|
Convergent Strabismus
|
|
Cross-Eye
|
|
|
| Lens Disease |
|
|
| Usher Syndrome Type 2 |
|
Ush2
|
Usher Syndrome Type Ii
|
|
|
| Sensory System Disease |
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
