| 疾病名称 |
别名 |
|
| 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
|
|
|
| Leber Congenital Amaurosis 7 |
|
LCA7
|
Leber Congenital Amaurosis, Type 7
|
|
|
| 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
|
|
|
| Macular Dystrophy, Concentric Annular |
|
Mcdca
|
Maculopathy, Bull'S Eye
|
|
|
| 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
|
|
|
| Retinitis Pigmentosa 91 |
|
Benign Concentric Annular Macular Dystrophy
|
RP91
|
|
Macular Dystrophy, Concentric Annular, Formerly
|
Mcdca, Formerly
|
|
Macular Dystrophy, Benign Concentric Annular, Formerly
|
Bcamd, Formerly
|
|
Bcamd
|
Macular Dystrophy, Benign Concentric Annular
|
|
Macular Dystrophy, Concentric Annular
|
Mcdca
|
|
Retinitis Pigmentosa, Type 91
|
|
|
| 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
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Keratoconus |
|
Kc
|
Conical Cornea
|
|
Noninflammatory Corneal Thining
|
Bulging Cornea
|
|
Cornea Conical
|
Acquired Conus Of Cornea
|
|
|
| Retinal Degeneration |
|
|
| Cone-Rod Dystrophy 11 |
|
CORD11
|
Dystrophy, Cone-Rod, Type 11
|
|
|
| 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
|
|
|
| Intraocular Retinoblastoma |
|
Pediatric Intraocular Retinoblastoma
|
|
|
| Leber Congenital Amaurosis 4 |
|
LCA4
|
Retinitis Pigmentosa, Juvenile
|
|
Cone-Rod Dystrophy
|
Leber Congenital Amaurosis, Type 4
|
|
Retinitis Pigmentosa
|
|
|
| Retinoblastoma |
|
RB
|
Trilateral Retinoblastoma
|
|
RB1
|
Retinoblastoma, Trilateral
|
|
Neuroblastoma Of Retina
|
Rb - Retinoblastoma
|
|
Eye Cancer, Retinoblastoma
|
Retinal Cancer
|
|
Retinal Tumor
|
Glioma, Retinal
|
|
Non-Hereditary Retinoblastoma
|
Childhood Cancer Retinoblastoma
|
|
Malignant Neoplasm Of Retina
|
Retinal Neoplasms
|
|
|
| Hereditary Choroidal Atrophy |
|
Hereditary Choroidal Dystrophy
|
|
|
| Partial Central Choroid Dystrophy |
|
Choroidal Dystrophy, Central Areolar
|
|
|
| Leber Congenital Amaurosis 3 |
|
LCA3
|
Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive
|
|
Leber Congenital Amaurosis, Type 3
|
Leber Congenital Amaurosis Type 3
|
|
|
| Retinal Cone Dystrophy 1 |
|
RCD1
|
Retinal Cone Dystrophy-1
|
|
Retinal Cone Degeneration
|
Cone Dystrophy, Autosomal Dominant
|
|
Cone Dystrophy Autosomal Dominant
|
Doid:0081024
|
|
|
| Leber Congenital Amaurosis 8 |
|
LCA8
|
Leber Congenital Amaurosis, Type 8
|
|
|
| Leber Congenital Amaurosis 10 |
|
LCA10
|
Leber Congenital Amaurosis, Type 10
|
|
|
| Unilateral Retinoblastoma |
|
|
| 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
|
|
|
| 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
|
|
|
| Eye Degenerative Disease |
|
|
| Leber Congenital Amaurosis 9 |
|
LCA9
|
Leber Congenital Amaurosis, Type 9
|
|
|
| Leber Congenital Amaurosis 6 |
|
LCA6
|
Leber Congenital Amaurosis, Type 6
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Retinitis Pigmentosa 9 |
|
RP9
|
Retinitis Pigmentosa-9
|
|
Retinitis Pigmentosa, Type 9
|
|
|
| Retinitis Pigmentosa 1 |
|
RP1
|
Retinitis Pigmentosa-1
|
|
Retinitis Pigmentosa, Type 1
|
|
|
| Spinocerebellar Ataxia 7 |
|
Spinocerebellar Ataxia Type 7
|
SCA7
|
|
Opca3
|
Opca Iii
|
|
Olivopontocerebellar Atrophy Iii
|
Opca With Retinal Degeneration
|
|
Opca With Macular Degeneration And External Ophthalmoplegia
|
Adca, Type Ii
|
|
Autosomal Dominant Cerebellar Ataxia Type 2
|
Olivopontocerebellar Atrophy 3
|
|
Autosomal Dominant Cerebellar Ataxia, Type Ii
|
Autosomal Dominant Cerebellar Ataxia Type Ii
|
|
Adca2
|
Adcaii
|
|
Ataxia With Pigmentary Retinopathy
|
Cerebellar Syndrome-Pigmentary Maculopathy Syndrome
|
|
Olivopontocerebellar Atrophy With Retinal Degeneration
|
Spinocerebellar Ataxia-7
|
|
Ataxia, Spinocerebellar, Type 7
|
|
|
| Cone-Rod Dystrophy 3 |
|
CORD3
|
Dystrophy, Cone Rod, Type 3
|
|
|
| Pineoblastoma |
|
Pineal Pnet
|
Pinealoma
|
|
Pineal Gland Neoplasm
|
Pineocytoma
|
|
Tumor Of The Pineal Region
|
|
|
| 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
|
|
|
| Thyroid Hormone Resistance, Selective Pituitary |
|
PRTH
|
Selective Pituitary Thyroid Hormone Resistance
|
|
Selective Pituitary Resistance To Thyroid Hormone
|
Familial Hyperthyroidism Due To Inappropriate Thyrotropin Secretion
|
|
Hyperthyroidism, Familial, Due To Inappropriate Thyrotropin Secretion
|
Pituitary Resistance To Thyroid Hormone
|
|
|
| Pineal Gland Cancer |
|
Tumor Of The Pineal Region
|
Malignant Pineal Region Tumor
|
|
Malignant Tumor Of Pineal Gland
|
Neoplasm Of Pineal Gland
|
|
Neoplasm Of The Pineal Region
|
Pineal Body Neoplasm
|
|
Pineocytic Tumor
|
Malignant Neoplasm Of Pineal Gland
|
|
Pineal Gland Neoplasm
|
Pineocytoma
|
|
|
| Occult Macular Dystrophy |
|
OCMD
|
Omd
|
|
Dystrophy, Macular, Occult
|
|
|
| Diamond-Blackfan Anemia 6 |
|
DBA6
|
Aase-Smith Syndrome Ii
|
|
Aase Syndrome
|
Aase Smith Syndrome 2
|
|
Rpl5-Related Diamond-Blackfan Anemia
|
Anemia, Diamond-Blackfan, Type 6
|
|
Diamond-Blackfan Anemia 1
|
|
|
| Retinitis Pigmentosa 33 |
|
RP33
|
Retinitis Pigmentosa, Type 33
|
|
|
| Pseudopapilledema |
|
|
| Vitelliform Macular Dystrophy |
|
Best Disease
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
|
Macular Dystrophy, Vitelliform
|
Best Macular Dystrophy
|
|
Vitelliform Dystrophy
|
|
|
| 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
|
|
|
| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
|
Cone Dystrophy 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
|
|
|
| Fundus Albipunctatus |
|
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
|
RPA
|
Albipunctate Retinal Dystrophy
|
|
Lauber'S Disease
|
FALBI
|
|
Fa
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Congenital Stationary Night Blindness |
|
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
|
| Night Blindness |
|
|
| Retinal Disease |
|
Retinal Diseases
|
Retinal Disorder
|
|
Retinal Disorders
|
|
|
| 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
|
|
|
| Medulloblastoma |
|
MDB
|
Cpnet
|
|
Localized Primitive Neuroectodermal Tumor
|
Classic Medulloblastoma
|
|
Medulloblastoma Predisposition Syndrome
|
Medulloblastoma, Somatic
|
|
Brain Medulloblastoma
|
Cns Pnet
|
|
Infratentorial Primitive Neuroectodermal Tumor
|
Neuroectodermal Tumors, Primitive
|
|
Medulloblastomas
|
Desmoplastic Medulloblastoma
|
|
Medulloblastoma, With Extensive Nodularity
|
Medulloblastoma Of Unspecified Site
|
|
Medullomyoblastoma Of Unspecified Site
|
|
|
| Keratitis, Hereditary |
|
Keratitis
|
Autosomal Dominant Keratitis
|
|
Hereditary Keratitis
|
Dominantly Inherited Keratitis
|
|
Keratitis Hereditary
|
KERH
|
|
|
| Sensory System Disease |
|
|
| 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
|
|
|
| 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
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
