| 疾病名称 |
别名 |
|
| Achromatopsia 3 |
|
ACHM3
|
Pingelapese Blindness
|
|
Total Colorblindness With Myopia
|
Achromatopsia With Myopia
|
|
Achm1
|
Rmch1
|
|
Rod Monochromacy 1
|
Rod Monochromatism 1
|
|
Achm1, Formerly
|
Rod Monochromatism 1, Formerly
|
|
Rod Monochromacy 1, Formerly
|
Rmch1, Formerly
|
|
Achromatopsia-3
|
Achromatopsia, Type 3
|
|
|
| Achromatopsia |
|
Achm
|
Rod Monochromatism
|
|
Total Color Blindness
|
Rod Monochromacy
|
|
Monochromatism
|
Achromatism
|
|
Complete Or Incomplete Color Blindness
|
Pingelapese Blindness
|
|
Achromatopsia 1
|
Achromatopsia 2
|
|
Achromatopsia 3
|
|
|
| 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
|
|
|
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Eosrd
|
Early-Onset Severe Retinal Dystrophy
|
|
Secord
|
Retinal Dystrophy, Early Onset Severe
|
|
|
| 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
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Progressive Cone Dystrophy |
|
Cone Dystrophy
|
Cone Dystrophy Progressive
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Achromatopsia 2 |
|
ACHM2
|
Rod Monochromatism 2
|
|
Rod Monochromacy 2
|
Rmch2
|
|
Colorblindness, Total
|
Complete Achromatopsia
|
|
Total Colorblindness
|
Achromatopsia-2
|
|
Achromatopsia, Type 2
|
Color Blindness
|
|
Achromatopsia
|
|
|
| Focal Chorioretinitis |
|
|
| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
|
Cone Dystrophy 3
|
|
|
| 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
|
|
|
| Achromatopsia 4 |
|
ACHM4
|
Achromatopsia, Type 4
|
|
|
| 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
|
|
|
| Blue Cone Monochromacy |
|
Blue Cone Monochromatism
|
BCM
|
|
Cbbm
|
Color Blindness Blue Mono Cone Monochromatic Type
|
|
Cone Dystrophy 5, X-Linked
|
Colorblindness, Blue-Mono-Cone-Monochromatic Type
|
|
Achromatopsia Incomplete X-Linked
|
Incomplete Achromatopsia X-Linked
|
|
X-Chromosome-Linked Achromatopsia
|
X-Linked Achromatopsia Incomplete
|
|
Atypical X-Linked Achromatopsia
|
Color Blindness, Blue Monocone Monochromatic Type
|
|
S Cone Monochromacy
|
S Cone Monochromatism
|
|
X-Linked Incomplete Achromatopsia
|
Colorblindness Blue-Mono-Cone-Monochromatic Type
|
|
Cone Dystrophy 5
|
COD5
|
|
Cone Dystrophy 5 X-Linked
|
Monochromacy, Blue Cone
|
|
Cone Monochromatism
|
Achromatopsia Incomplete, X-Linked
|
|
|
| Retinal Cone Dystrophy 3b |
|
RCD3B
|
Cone Dystrophy With Supernormal Rod Response
|
|
Cone Dystrophy With Supernormal Rod Electroretinogram
|
Cone Dystrophy With Supernormal Rod Responses
|
|
Cdsrr
|
Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Kcnv2-Related
|
|
Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2 Related
|
Cone Dystrophy With Supernormal Rod Erg
|
|
Cone Dystrophy With Supernormal Scotopic Electroretinogram
|
Cone Dystrophy Retinal 3b
|
|
Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2-Related
|
Doid:0081022
|
|
Dystrophy, Retinal Cone, Type 3b
|
|
|
| Cone-Rod Dystrophy 1 |
|
CORD1
|
Crd1
|
|
Cone-Rod Retinal Dystrophy-1
|
Retinitis Pigmentosa 1
|
|
|
| Achromatopsia 7 |
|
ACHM7
|
Achromatopsia, Type 7
|
|
|
| Epidemic Pleurodynia |
|
Bornholm Disease
|
Epidemic Myalgia
|
|
Pleurodynia, Epidemic
|
Devil'S Grip
|
|
Bamble Disease
|
Epidemic Pleurisy
|
|
Epidemic, Myositis
|
Dabney'S Grip
|
|
Epidemic Benign Dry Pleurisy
|
Epidemic Cervical Myalgia
|
|
|
| Cycloplegia |
|
Ciliary Muscle Paresis
|
Cycloplegic Paralysis Of Accommodation
|
|
Paresis Of Accommodation
|
Visual Accommodation Paralysis
|
|
Accommodation Paralysis
|
Intrinsic Paralysis Of Eye Muscle
|
|
Cycloplegic
|
|
|
| Pathologic Nystagmus |
|
|
| Red-Green Color Blindness |
|
Deutan Defect
|
Deuteranopia
|
|
Reduced Red-Green Discrimination
|
Color Blindness, Red-Green
|
|
Colorblindness, Partial, Deutan Series
|
|
|
| Cone-Rod Dystrophy 9 |
|
CORD9
|
Dystrophy, Cone-Rod, Type 9
|
|
Retinitis Pigmentosa 9
|
|
|
| Occult Macular Dystrophy |
|
OCMD
|
Omd
|
|
Dystrophy, Macular, Occult
|
|
|
| Colorblindness, Partial, Protan Series |
|
Protanopia
|
Red Color Blindness
|
|
Protan Defect
|
CBP
|
|
Red Colorblindness
|
Colorblindness, Protan
|
|
Color Blindness, Red
|
|
|
| Tritanopia |
|
Blue Color Blindness
|
Colorblindness, Tritan
|
|
Blue Colorblindness
|
CBT
|
|
Colorblindness, Tritanopic
|
Tritan Defect
|
|
Blue Colour Blindness
|
Congenital Tritanopia
|
|
Tritan Colour Blindness
|
Tritan Color Blindness
|
|
Color Vision Defects
|
Color Blindness, Blue
|
|
Color Vision Defect
|
Color Blindness
|
|
|
| Choroid Disease |
|
Choroid Diseases
|
Abnormality Of The Choroid
|
|
|
| Multilocular Clear Cell Renal Cell Carcinoma |
|
Cystadenocarcinoma Of Kidney
|
Renal Cystadenocarcinoma
|
|
|
| Prolonged Electroretinal Response Suppression |
|
|
| Congenital Nystagmus |
|
Nystagmus, Congenital
|
Nystagmus Congenital
|
|
|
| Scotoma |
|
Enlarged Blind Spot
|
Scotoma Of Blind Spot Area
|
|
Blind Spot Area Scotoma
|
Enlarged Angioscotoma
|
|
Enlarged Paracaecal Scotoma
|
Generalized Visual Field Contraction Or Constriction
|
|
Sector Or Arcuate Visual Field Defects
|
|
|
| Cone-Rod Dystrophy 8 |
|
|
| Lissencephaly 4 |
|
LIS4
|
Lissencephaly 4 With Microcephaly
|
|
Microlissencephaly
|
Lissencephaly, Type 4
|
|
|
| Hereditary Choroidal Atrophy |
|
Hereditary Choroidal Dystrophy
|
|
|
| Partial Central Choroid Dystrophy |
|
Choroidal Dystrophy, Central Areolar
|
|
|
| Retinitis Pigmentosa 45 |
|
RP45
|
Retinitis Pigmentosa, Type 45
|
|
|
| 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
|
|
|
| Retinitis Pigmentosa 20 |
|
RP20
|
Retinitis Pigmentosa, Type 20
|
|
|
| Peripheral Retinal Degeneration |
|
Peripheral Degeneration Of Retina
|
Degeneration Of Retina Nos
|
|
Reticular Retinal Degeneration
|
Retinal Degeneration
|
|
|
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Lymphedema, Microcephaly And Chorioretinopathy Syndrome
|
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability
|
|
MCLMR
|
Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome
|
|
Mlcrd Syndrome
|
Cdmmr Syndrome
|
|
Lymphedema And Retinal Folds With Microcephaly And Microphthalmos
|
Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome
|
|
Microcephaly Lymphedema Chorioretinal Dysplasia
|
Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant
|
|
Lymphedema, Microcephaly, Chorioretinopathy Syndrome
|
Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos
|
|
Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome
|
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
|
|
Mlcrd
|
Lymphedema Microcephaly Chorioretinopathy Syndrome
|
|
Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome
|
Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability
|
|
Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation
|
|
|
| Bestrophinopathy, Autosomal Recessive |
|
Bestrophinopathy
|
Autosomal Recessive Bestrophinopathy
|
|
ARB
|
Bestrophinopathies
|
|
Retinopathy, Burgess-Black Type
|
Retinopathy Burgess-Black Type
|
|
|
| Retinitis Pigmentosa 37 |
|
RP37
|
Retinitis Pigmentosa-37
|
|
Retinitis Pigmentosa, Type 37
|
|
|
| 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
|
|
|
| Choroideremia |
|
CHM
|
Tcd
|
|
Progressive Tapetochoroidal Dystrophy
|
Choroidal Sclerosis
|
|
Tapetochoroidal Dystrophy, Progressive
|
Progressive Choroidal Atrophy
|
|
Tapetochoroidal Dystrophy
|
|
|
| Retinitis Pigmentosa 25 |
|
RP25
|
Retinitis Pigmentosa-25
|
|
Retinitis Pigmentosa, Type 25
|
|
|
| Eye Accommodation Disease |
|
|
| Alternating Exotropia |
|
|
| Ischemic Neuropathy |
|
Ischemic Peripheral Neuropathy
|
|
|
| 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
|
|
|
| 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
|
|
|
| Vitelliform Macular Dystrophy |
|
Best Disease
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
|
Macular Dystrophy, Vitelliform
|
Best Macular Dystrophy
|
|
Vitelliform Dystrophy
|
|
|
| Congenital Stationary Night Blindness |
|
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
|
| Gyrate Atrophy Of Choroid And Retina |
|
Gyrate Atrophy
|
Ornithine Aminotransferase Deficiency
|
|
HOGA
|
Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
|
|
Oat Deficiency
|
Okt Deficiency
|
|
Hyperornithinemia
|
Ornithine Keto Acid Aminotransferase Deficiency
|
|
Ornithine-Delta-Aminotransferase Deficiency
|
Gyrate Atrophy Of The Choroid And Retina
|
|
GACR
|
Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
|
|
Gyrate Atrophy Of The Retina
|
Ornithinemia With Gyrate Atrophy
|
|
Ornithinemia
|
Fuchs Atrophia Gyrata Chorioideae Et Retinae
|
|
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome
|
Gyrate Atrophy Of The Choroid And/Or Retina
|
|
Girate Atrophy Of The Retina
|
Ornithine Ketoacid Aminotransferase Deficiency
|
|
Atrophy, Gyrate, Of Choroid And Retina
|
|
|
| Myopia |
|
Near-Sightedness
|
Short-Sightedness
|
|
Nearsightedness
|
Nearsighted
|
|
Near Vision
|
Close Sighted
|
|
Myopic
|
Short-Sighted
|
|
Near Sighted
|
|
|
| Retinitis Pigmentosa 26 |
|
RP26
|
Retinitis Pigmentosa-26
|
|
Retinitis Pigmentosa, Type 26
|
|
|
| Eye Degenerative Disease |
|
|
| Fundus Albipunctatus |
|
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
|
RPA
|
Albipunctate Retinal Dystrophy
|
|
Lauber'S Disease
|
FALBI
|
|
Fa
|
|
|
| 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
|
|
|
| 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
|
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber Optic Atrophy
|
Leber Hereditary Optic Neuropathy
|
|
LHON
|
Leber'S Hereditary Optic Neuropathy
|
|
Leber Optic Atrophy, Susceptibility To
|
Leber'S Optic Atrophy
|
|
LOAM
|
Loas
|
|
Leber'S Disease
|
Leber'S Optic Neuropathy
|
|
Optic Atrophy, Hereditary, Leber
|
Lhon, Modifier Of
|
|
Optic Atrophy, Leber Type
|
Hereditary Optic Neuroretinopathy
|
|
Leber Hereditary Optic Atrophy
|
Loa
|
|
Optic Atrophy Leber Type
|
Leber Hereditary Optic Neuropathy, Modifier
|
|
Leber Hereditary Optic Neuropathy Susceptibility
|
Modifier Of Leber Hereditary Optic Neuropathy
|
|
Lebers Hereditary Optic Neuropathy
|
Leber Congenital Amaurosis
|
|
|
