| 疾病名称 |
别名 |
|
| Leber Congenital Amaurosis 13 |
|
LCA13
|
Retinitis Pigmentosa 53
|
|
RP53
|
Leber Congenital Amaurosis, Type 13
|
|
|
| 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
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Retinitis Pigmentosa 44 |
|
RP44
|
Retinitis Pigmentosa, Type 44
|
|
|
| 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 |
|
|
| Leber Congenital Amaurosis 11 |
|
LCA11
|
Leber Congenital Amaurosis, Type 11
|
|
|
| Cone-Rod Dystrophy 12 |
|
CORD12
|
Dystrophy, Cone-Rod, Type 12
|
|
|
| Leber Congenital Amaurosis 9 |
|
LCA9
|
Leber Congenital Amaurosis, Type 9
|
|
|
| Leber Congenital Amaurosis 7 |
|
LCA7
|
Leber Congenital Amaurosis, Type 7
|
|
|
| Leber Congenital Amaurosis 8 |
|
LCA8
|
Leber Congenital Amaurosis, Type 8
|
|
|
| Solar Retinopathy |
|
|
| Retinitis Pigmentosa 84 |
|
RP84
|
Retinitis Pigmentosa, Type 84
|
|
|
| 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 35 |
|
RP35
|
Retinitis Pigmentosa-35
|
|
Retinitis Pigmentosa, Type 35
|
|
|
| Fundus Albipunctatus |
|
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
|
RPA
|
Albipunctate Retinal Dystrophy
|
|
Lauber'S Disease
|
FALBI
|
|
Fa
|
|
|
| Leber Congenital Amaurosis 14 |
|
LCA14
|
Retinitis Pigmentosa, Juvenile, Lrat-Related
|
|
Retinal Dystrophy, Early-Onset Severe
|
Retinitis Pigmentosa, Juvenile
|
|
Retinitis Pigmentosa Juvenile Lrat-Related
|
Severe Early-Onset Retinal Dystrophy Lrat-Related
|
|
Retinal Dystrophy, Early-Onset Severe, Lrat-Related
|
Leber Congenital Amaurosis, Type 14
|
|
|
| Leber Congenital Amaurosis 6 |
|
LCA6
|
Leber Congenital Amaurosis, Type 6
|
|
|
| Chromosome 3q13.31 Deletion Syndrome |
|
3q13 Microdeletion Syndrome
|
Monosomy 3q13
|
|
Chromosome 3, Monosomy 3q13
|
Del(3)(Q13)
|
|
|
| Leber Congenital Amaurosis 4 |
|
LCA4
|
Retinitis Pigmentosa, Juvenile
|
|
Cone-Rod Dystrophy
|
Leber Congenital Amaurosis, Type 4
|
|
Retinitis Pigmentosa
|
|
|
| Leber Congenital Amaurosis 15 |
|
LCA15
|
Leber Congenital Amaurosis, Type 15
|
|
|
| Leber Congenital Amaurosis 10 |
|
LCA10
|
Leber Congenital Amaurosis, Type 10
|
|
|
| Retinal Degeneration |
|
|
| Chorioretinal Scar |
|
Chorioretinal Cicatrix
|
Cicatrix Of Choroid
|
|
Choroid Scar
|
Macula Scar
|
|
Macular Scarring
|
Retinal Cicatrix
|
|
Retinal Scar
|
|
|
| Leber Congenital Amaurosis 16 |
|
LCA16
|
Leber Congenital Amaurosis, Type 16
|
|
|
| Keratoconus |
|
Kc
|
Conical Cornea
|
|
Noninflammatory Corneal Thining
|
Bulging Cornea
|
|
Cornea Conical
|
Acquired Conus Of Cornea
|
|
|
| Microphthalmia, Syndromic 9 |
|
Matthew-Wood Syndrome
|
Spear Syndrome
|
|
Anophthalmia/Microphthalmia And Pulmonary Hypoplasia
|
Microphthalmia, Isolated, With Coloboma 8
|
|
MCOPS9
|
Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm
|
|
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect
|
Pdac
|
|
Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect
|
Pmd
|
|
Syndromic Microphthalmia 9
|
Anophthalmia-Pulmonary Hypoplasia Syndrome
|
|
Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations
|
Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect
|
|
Microphthalmia Syndromic 9
|
Matthew Wood Syndrome
|
|
Pdac Syndrome
|
Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome
|
|
Microphthalmia, Isolated, With Coloboma, 8
|
MCOPCB8
|
|
Isolated Colobomatous Microphthalmia 8
|
Microphthalmia, Syndromic, 9
|
|
Anophthalmia With Pulmonary Hypoplasia
|
Microphthalmia Syndromic, Type 9
|
|
Anophthalmia And Pulmonary Hypoplasia
|
|
|
| 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
|
|
|
| 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
|
|
|
| Eye Degenerative Disease |
|
|
| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
|
Cone Dystrophy 3
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
