| 疾病名称 |
别名 |
|
| Retinitis Pigmentosa 20 |
|
RP20
|
Retinitis Pigmentosa, Type 20
|
|
|
| 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 87 With Choroidal Involvement |
|
RP87
|
Retinitis Pigmentosa 87
|
|
Retinitis Pigmentosa, Type 87, Choroidal Involvement
|
|
|
| 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
|
|
|
| Retinal Degeneration |
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Acth Deficiency, Isolated |
|
Adrenocorticotropic Hormone Deficiency
|
IAD
|
|
Congenital Isolated Acth Deficiency
|
Isolated Acth Deficiency
|
|
Isolated Adrenocorticotropic Hormone Deficiency
|
Adrenocorticotropic Hormone Deficiency
|
|
Adrenocorticotropic Hormone [Acth] Deficiency
|
Secondary Adrenocortical Insufficiency
|
|
|
| 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
|
|
|
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Eosrd
|
Early-Onset Severe Retinal Dystrophy
|
|
Secord
|
Retinal Dystrophy, Early Onset Severe
|
|
|
| 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
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| 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
|
|
|
| Choroideremia |
|
CHM
|
Tcd
|
|
Progressive Tapetochoroidal Dystrophy
|
Choroidal Sclerosis
|
|
Tapetochoroidal Dystrophy, Progressive
|
Progressive Choroidal Atrophy
|
|
Tapetochoroidal Dystrophy
|
|
|
| Retinitis |
|
|
| Keratoconus |
|
Kc
|
Conical Cornea
|
|
Noninflammatory Corneal Thining
|
Bulging Cornea
|
|
Cornea Conical
|
Acquired Conus Of Cornea
|
|
|
| Congenital Stationary Night Blindness |
|
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
|
| Night Blindness |
|
|
| Choroid Disease |
|
Choroid Diseases
|
Abnormality Of The Choroid
|
|
|
| Eye Degenerative Disease |
|
|
| 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 10 |
|
LCA10
|
Leber Congenital Amaurosis, Type 10
|
|
|
| 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
|
|
|
| Hereditary Retinal Dystrophy |
|
Hereditary Retinal Dystrophies
|
|
|
| Retinal Perforation |
|
Retinal Break
|
Retinal Perforations
|
|
Retinal Dialysis
|
Retinal Tear
|
|
Retinal Break Nos
|
Ruptured Retina
|
|
|
| Leber Congenital Amaurosis 16 |
|
LCA16
|
Leber Congenital Amaurosis, Type 16
|
|
|
| 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
|
|
|
| Bestrophinopathy, Autosomal Recessive |
|
Bestrophinopathy
|
Autosomal Recessive Bestrophinopathy
|
|
ARB
|
Bestrophinopathies
|
|
Retinopathy, Burgess-Black Type
|
Retinopathy Burgess-Black Type
|
|
|
| Vitreous Disease |
|
Disorder Of Vitreous Body
|
|
|
| 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
|
|
|
| Fundus Albipunctatus |
|
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
|
RPA
|
Albipunctate Retinal Dystrophy
|
|
Lauber'S Disease
|
FALBI
|
|
Fa
|
|
|
| Oliver-Mcfarlane Syndrome |
|
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
|
OMCS
|
|
Long Eyelashes-Intellectual Disability Syndrome
|
Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina
|
|
Eyelashes, Long, With Mental Retardation
|
Eyelashes Long Mental Retardation
|
|
Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration
|
Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina
|
|
Eyelashes, Long With Intellectual Disability
|
Oliver Mcfarlane Syndrome
|
|
Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature
|
Trichomegaly, Retina Pigmentary Degeneration, Dwarfism
|
|
Trichomegaly Retina Pigmentary Degeneration Dwarfism
|
|
|
| Vitreoretinochoroidopathy |
|
Autosomal Dominant Vitreoretinochoroidopathy
|
Advirc
|
|
Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
|
Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
|
|
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2
|
Vitreoretinochoroidopathy Dominant
|
|
VRCP
|
Vitreoretinochoroidopathy, Autosomal Dominant
|
|
Vrcp Autosomal Dominant
|
Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma
|
|
Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
|
|
|
| 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
|
|
|
| Achromatopsia |
|
Achm
|
Rod Monochromatism
|
|
Total Color Blindness
|
Rod Monochromacy
|
|
Monochromatism
|
Achromatism
|
|
Complete Or Incomplete Color Blindness
|
Pingelapese Blindness
|
|
Achromatopsia 1
|
Achromatopsia 2
|
|
Achromatopsia 3
|
|
|
| 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
|
|
|
| Blood Group, Globoside System |
|
Globe Disease
|
GLOB
|
|
Blood Group System, Globoside
|
|
|
| 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
|
|
|
| Macular Degeneration, Age-Related, 7 |
|
Age Related Macular Degeneration 7
|
ARMD7
|
|
Macular Degeneration, Age-Related, Neovascular Type
|
Susceptibility To Neovascular Type Of Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related, Type 7
|
|
|
| Leber Congenital Amaurosis 8 |
|
LCA8
|
Leber Congenital Amaurosis, Type 8
|
|
|
| Macular Holes |
|
|
| Leber Congenital Amaurosis 12 |
|
LCA12
|
Leber Congenital Amaurosis, Type 12
|
|
|
| Leber Congenital Amaurosis 4 |
|
LCA4
|
Retinitis Pigmentosa, Juvenile
|
|
Cone-Rod Dystrophy
|
Leber Congenital Amaurosis, Type 4
|
|
Retinitis Pigmentosa
|
|
|
| Leber Congenital Amaurosis 3 |
|
LCA3
|
Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive
|
|
Leber Congenital Amaurosis, Type 3
|
Leber Congenital Amaurosis Type 3
|
|
|
| Leber Congenital Amaurosis 9 |
|
LCA9
|
Leber Congenital Amaurosis, Type 9
|
|
|
| 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
|
|
|
| Physical Disorder |
|
|
| 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
|
|
|
| Kuhnt-Junius Degeneration |
|
Neovascular Age-Related Macular Degeneration
|
Exudative Senile Macular Degeneration Of Retina
|
|
Senile Macular Degeneration, Wet
|
Wet Senile Macular Retinal Degeneration
|
|
Exudative Age-Related Macular Degeneration
|
Exudative Macular Degeneration
|
|
|
| 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
|
|
|
| Vitreous Detachment |
|
Posterior Vitreous Detachment
|
Vitreous Syneresis
|
|
|
| Macular Retinal Edema |
|
Macular Edema
|
Macular Oedema
|
|
Macular Retinal Oedema
|
Macular Edema, Cystoid
|
|
|
| Familial Lipoprotein Lipase Deficiency |
|
Familial Lpl Deficiency
|
Familial Hyperchylomicronemia
|
|
Hyperlipoproteinemia Type I
|
Familial Hyperlipoproteinemia Type I
|
|
Hyperchylomicronemia
|
Burger-Grutz Syndrome
|
|
Endogenous Hypertriglyceridaemia
|
Familial Fat-Induced Hypertriglyceridemia
|
|
Lipd Deficiency
|
Lpl Deficiency
|
|
Lipase D Deficiency
|
Lipoprotein Lipase Deficiency, Familial
|
|
Familial Chylomicronemia Syndrome
|
Fredrickson Type I Hyperlipoproteinemia
|
|
Fredrickson Type I Lipaemia
|
Hypercholesterinaemic Xanthomatosis
|
|
Mixed Hyperglyceridemia
|
Lipoprotein Lipase Deficiency
|
|
Type I Hyperlipoproteinemia
|
Hyperlipoproteinemia Type Ia
|
|
Familial Hyperlipo-Proteinemia Type 1
|
|
|
| Retinal Disease |
|
Retinal Diseases
|
Retinal Disorder
|
|
Retinal Disorders
|
|
|
| Bietti Crystalline Corneoretinal Dystrophy |
|
BCD
|
Bietti Crystalline Dystrophy
|
|
Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy
|
Bietti Crystalline Retinopathy
|
|
Bietti'S Crystalline Dystrophy
|
Crystalline Retinopathy
|
|
Dystrophy, Corneoretinal, Crystalline, Bietti
|
|
|
| Hereditary Choroidal Atrophy |
|
Hereditary Choroidal Dystrophy
|
|
|
| Partial Central Choroid Dystrophy |
|
Choroidal Dystrophy, Central Areolar
|
|
|
| Endophthalmitis |
|
|
| Leber Congenital Amaurosis 13 |
|
LCA13
|
Retinitis Pigmentosa 53
|
|
RP53
|
Leber Congenital Amaurosis, Type 13
|
|
|
| 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
|
|
|
| Pseudopapilledema |
|
|
| Adenosine Deaminase Deficiency |
|
Ada Deficiency
|
Ada-Scid
|
|
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
|
Adenosine Deaminase Deficient Severe Combined Immunodeficiency
|
|
Scid Due To Ada Deficiency
|
Severe Combined Immunodeficiency Due To Ada Deficiency
|
|
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
|
Ada
|
|
Scid Due To Adenosine Deaminase Deficiency
|
|
|
| Usher Syndrome, Type Iiia |
|
Usher Syndrome Type 3
|
Ush3
|
|
Usher Syndrome Type 3a
|
USH3A
|
|
Usher Syndrome, Type Iii
|
Usher Syndrome, Type 3
|
|
Usher Syndrome, Type 3a
|
Usher Syndrome Type Iiia
|
|
Usher Syndrome 3a
|
Usher'S Syndrome Type 3
|
|
Usher Syndrome Iii
|
Usher Syndrome Type Iii
|
|
|
| Red-Green Color Blindness |
|
Deutan Defect
|
Deuteranopia
|
|
Reduced Red-Green Discrimination
|
Color Blindness, Red-Green
|
|
Colorblindness, Partial, Deutan Series
|
|
|
| Sensory System Disease |
|
|
| Vitreoretinopathy, Neovascular Inflammatory |
|
Proliferative Vitreoretinopathy
|
Adniv
|
|
Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy
|
VRNI
|
|
Pvr
|
Neovascular Inflammatory Vitreoretinopathy
|
|
Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant
|
Retinitis Proliferans
|
|
Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant
|
Vitreoretinopathy Proliferative
|
|
Vitreoretinopathy, Proliferative
|
Proliferative Vitreo-Retinopathy
|
|
|
| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
|
Cone Dystrophy 3
|
|
|
| Lens Disease |
|
|
| Cold-Induced Sweating Syndrome 3 |
|
|
| Choroiditis |
|
|
| Uveal Disease |
|
|
| 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
|
|
|
| Retinitis Pigmentosa 50 |
|
RP50
|
Retinitis Pigmentosa, Concentric
|
|
Retinitis Pigmentosa-50
|
Retinitis Pigmentosa Concentric
|
|
|
| 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
|
|
|
| Hemophilia B |
|
Christmas Disease
|
Factor Ix Deficiency
|
|
F9 Deficiency
|
HEMB
|
|
Plasma Thromboplastin Component Deficiency
|
Congenital Factor Ix Deficiency
|
|
Mild Hemophilia B
|
Severe Hemophilia B
|
|
Congenital Factor Ix Disorder
|
Deficiency, Functional Factor Ix
|
|
Hem B
|
Mild Congenital F9 Deficiency
|
|
Mild Congenital Factor Ix Deficiency
|
Moderate Hemophilia B
|
|
Moderate Congenital F9 Deficiency
|
Moderate Congenital Factor Ix Deficiency
|
|
Severe Congenital F9 Deficiency
|
Severe Congenital Factor Ix Deficiency
|
|
Bleeding Disorder In Hemophilia B Carriers
|
Congenital F9 Deficiency
|
|
Recessive X-Linked Hemophilia B
|
|
|
| Peripheral Retinal Degeneration |
|
Peripheral Degeneration Of Retina
|
Degeneration Of Retina Nos
|
|
Reticular Retinal Degeneration
|
Retinal Degeneration
|
|
|
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Aadc Deficiency
|
Dopa Decarboxylase Deficiency
|
|
Ddc Deficiency
|
Aromatic Amino Acid Decarboxylase Deficiency
|
|
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase
|
AADCD
|
|
Aromatic-L-Amino-Acid Decarboxylase Deficiency
|
Aromatic L-Amino-Acid Decarboxylase Deficiency
|
|
|
| Refractive Error |
|
|
| Retinitis Pigmentosa 39 |
|
RP39
|
Retinitis Pigmentosa, Type 39
|
|
|
| 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
|
|
|
| Ichthyosis |
|
Ichthyoses
|
Non-Syndromic Ichthyosis
|
|
Congenital Ichthyosis
|
|
|
| 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
|
|
|
| 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
|
|
|
| Retinitis Pigmentosa 7 |
|
Leber Congenital Amaurosis 18
|
RP7
|
|
Retinitis Pigmentosa 7, Digenic Form
|
Retinitis Pigmentosa 7 And Digenic Form
|
|
Retinitis Pigmentosa 7, Digenic
|
LCA18
|
|
Retinitis Pigmentosa 7 Digenic
|
|
|
| Retinal Vascular Disease |
|
Retinal Vascular
|
Retinal Vascular Disorder
|
|
Retina Circulation Disorder
|
|
|
| Usher Syndrome Type 2 |
|
Ush2
|
Usher Syndrome Type Ii
|
|
|
| Nanophthalmos |
|
|
| Exudative Vitreoretinopathy 1 |
|
Retinopathy Of Prematurity
|
Retrolental Fibroplasia
|
|
EVR1
|
Criswick-Schepens Syndrome
|
|
Rop
|
Exudative Vitreoretinopathy, Familial, Autosomal Dominant
|
|
Fevr, Autosomal Dominant
|
Premature Retinopathy
|
|
Vitreoretinopathy, Exudative 1
|
Autosomal Dominant Familial Exudative Vitreoretinopathy
|
|
Fevr
|
Vitreoretinopathy, Exudative, Type 1
|
|
Retinopathy Of Prematurity Nos
|
Rlf- [Retrolental Fibroplasia]
|
|
Rop - [Retinopathy Of Prematurity]
|
Terry Syndrome
|
|
|
| Usher Syndrome, Type I |
|
USH1
|
Usher Syndrome Type 1
|
|
Us1
|
Usher Syndrome, Type 1b
|
|
Usher Syndrome Type 1e
|
Retinitis Pigmentosa And Congenital Deafness
|
|
Usher Syndrome, Type Ie
|
USH1E
|
|
Usher Syndrome, Type 1e
|
Usher Syndrome, Type 1a
|
|
Usher Syndrome, Type Ib
|
Usher Syndrome Type 1b
|
|
Usher Syndrome Type Ie
|
Usher Syndrome Type I
|
|
Usher 1
|
Usher Syndrome, Type 1
|
|
Ush1a
|
Usher Syndrome, Type I, French Variety
|
|
Usher Syndrome, Type Ia
|
Usher Syndrome 1b
|
|
USH1B
|
Usher'S Syndrome Type 1b
|
|
Usher Syndrome Type Ib
|
Ushib
|
|
|
| Optic Nerve Disease |
|
Optic Neuropathy
|
Disorder Of The Second Nerve
|
|
Optic Nerve Disorder
|
Optic Nerve
|
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
| Neuronal Ceroid Lipofuscinosis |
|
Hereditary Ceroid Lipofuscinosis
|
Batten Disease
|
|
Ncl
|
Neuronal Ceroid-Lipofuscinoses
|
|
Lipofuscinosis, Ceroid, Neuronal
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Cerebromacular Dystrophy
|
Cerebromacular Degeneration
|
|
Ceroid-Lipofuscinosis
|
Ncl - [Neuronal Ceroid Lipofuscinosis]
|
|
Amaurotic Familial Idiocy
|
Amaurotic Idiocy
|
|
Amaurotic Idiot
|
Neuronal Lipofuscinosis
|
|
Pigmentary Retinal Lipoid Neuronal Heredodegeneration
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
