疾病名称 |
别名 |
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Macular Dystrophy, Vitelliform, 3 |
Adult-Onset Vitelliform Macular Dystrophy
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Avmd
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Adult-Onset Foveomacular Vitelliform Dystrophy
|
Aofmd
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VMD3
|
Vitelliform Macular Dystrophy, Adult-Onset
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Foveomacular Dystrophy, Adult-Onset, With Or Without Choroidal Neovascularization
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Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization
|
Adult-Onset Foveomacular Dystrophy
|
Vitelliform Macular Dystrophy 3
|
Foveomacular Dystrophy, Adult-Onset
|
Foveomacular Dystrophy, Adult-Onset
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Aofmd
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Macular Dystrophy, Vitelliform, Adult-Onset
|
Adult-Onset Foveomacular Dystrophy With Choroidal Neovascularization
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Gass Disease
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Pseudo-Best Disease
|
Pseudo-Vitelliform Macular Dystrophy
|
Gas
|
|
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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
|
|
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Macular Dystrophy, Patterned, 1 |
Patterned Macular Dystrophy 1
|
MDPT1
|
Patterned Dystrophy Of Retinal Pigment Epithelium
|
Macular Dystrophy, Butterfly-Shaped Pigmentary
|
Butterfly Dystrophy Of Retinal Pigment Epithelium
|
Butterfly-Shaped Pigmentary Maculary Dystrophy 1
|
Dystrophy, Macular, Patterned, Type 1
|
|
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Choroidal Dystrophy, Central Areolar 2 |
CACD2
|
Macular Dystrophy, Progressive
|
Dystrophy, Choroidal, Areolar, Central, Type 2
|
|
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Fundus Albipunctatus |
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
RPA
|
Albipunctate Retinal Dystrophy
|
Lauber'S Disease
|
FALBI
|
Fa
|
|
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Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus |
Multifocal Pattern Dystrophy Simulating Stargardt Disease
|
|
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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
|
|
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Choroidal Dystrophy, Central Areolar, 1 |
Choroidal Sclerosis
|
Choroidal Dystrophy
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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
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Partial Central Choroid Dystrophy
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Degenerative Choroidopathy
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Chorioretinal Degeneration
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Hereditary Chorioretinal Degeneration
|
Hereditary Degeneration Of Choroid
|
Hereditary Choroidal Dystrophies
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Generalised Choroidal Dystrophy
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Hereditary Choroidopathy
|
|
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Pattern Dystrophy |
Patterned Dystrophy Of The Retinal Pigment Epithelium
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Vitelliform Macular Dystrophy |
Best Disease
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
Macular Dystrophy, Vitelliform
|
Best Macular Dystrophy
|
Vitelliform Dystrophy
|
|
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Choroideremia |
CHM
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Tcd
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Progressive Tapetochoroidal Dystrophy
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Choroidal Sclerosis
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Tapetochoroidal Dystrophy, Progressive
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Progressive Choroidal Atrophy
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Tapetochoroidal Dystrophy
|
|
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Doyne Honeycomb Retinal Dystrophy |
DHRD
|
Doyne Honeycomb Degeneration Of Retina
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Dhd
|
Malattia Leventinese
|
Ml
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Mlvt
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Dystrophy, Retinal, Doyne Honeycomb
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Retinitis Pigmentosa |
RP
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Rod-Cone Dystrophy
|
Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
Tapetoretinal Degeneration
|
Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
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Butterfly-Shaped Pigment Dystrophy |
Butterfly-Shaped Pattern Dystrophy
|
Butterfly-Shaped Pigmentary Macular Dystrophy
|
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Macular Dystrophy, Vitelliform, 2 |
Best Macular Dystrophy
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
VMD2
|
Bmd
|
Macular Degeneration, Polymorphic Vitelline
|
Best Vitelliform Macular Dystrophy
|
Best Disease
|
Early-Onset Vitelliform Macular Dystrophy
|
Best Vitelliform Macular Dystrophy, Multifocal
|
Bvmd
|
Polymorphic Vitelline Macular Degeneration
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Vitelliform Macular Dystrophy Type 2
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Vitelliform Macular Dystrophy 2
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Vitelliform Macular Dystrophy, Early-Onset
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Vitelliform Macular Dystrophy, Juvenile-Onset
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Autosomal Recessive Bestrophinopathy
|
Retinopathy, Burgess-Black Type
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Best'S Macular Dystrophy
|
Vmd
|
Vitelliform Macular Dystrophy
|
|
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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
|
|
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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
|
|
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Progressive Cone Dystrophy |
Cone Dystrophy
|
Cone Dystrophy Progressive
|
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Cone Dystrophy |
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
Cone Dystrophy 3
|
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Fundus Dystrophy |
Retinal Dystrophy
|
Retinal Dystrophies
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Dystrophy, Retinal
|
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Isolated Macular Dystrophy |
|
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Retinitis |
|
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Bestrophinopathy, Autosomal Recessive |
Bestrophinopathy
|
Autosomal Recessive Bestrophinopathy
|
ARB
|
Bestrophinopathies
|
Retinopathy, Burgess-Black Type
|
Retinopathy Burgess-Black Type
|
|
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Retinal Disease |
Retinal Diseases
|
Retinal Disorder
|
Retinal Disorders
|
|
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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
|
|
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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
|
|
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Retinal Degeneration |
|
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Hereditary Choroidal Atrophy |
Hereditary Choroidal Dystrophy
|
|
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Partial Central Choroid Dystrophy |
Choroidal Dystrophy, Central Areolar
|
|
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Retinitis Pigmentosa 1 |
RP1
|
Retinitis Pigmentosa-1
|
Retinitis Pigmentosa, Type 1
|
|
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Ego-Dystonic Sexual Orientation |
|
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17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
17-Ksr Deficiency
|
Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency
|
Pseudohermaphroditism, Male, With Gynecomastia
|
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
|
Testosterone 17-Beta-Dehydrogenase Deficiency
|
17-Ketosteroid Reductase Deficiency Of Testis
|
17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
|
17-Ketoreductase Deficiency
|
17-Ketosteroidreductase Deficiency
|
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
|
Male Pseudohermaphroditism With Gynecomastia
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17 Alpha Ksr Deficiency
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17 Alpha Ketosteroid Reductase Deficiency Of Testis
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17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency
|
Male Pseudoherma-Phroditism With Gynecomastia
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Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency
|
Male Pseudohermaphrodism With Gynecomastia
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MPH
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
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Toxic Maculopathy |
Toxic Maculopathy Of Retina
|
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Occult Macular Dystrophy |
OCMD
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Omd
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Dystrophy, Macular, Occult
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|
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Retinoschisis 1, X-Linked, Juvenile |
Retinoschisis
|
X-Linked Retinoschisis
|
X-Linked Juvenile Retinoschisis
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RS1
|
XLRS1
|
X-Linked Juvenile Retinoschisis 1
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Xlrs
|
Retinoschisis, X-Linked
|
Rs
|
Congenital X-Linked Retinoschisis
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Degenerative Retinoschisis
|
Juvenile Retinoschisis
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Xjr
|
Retinoschisis Juvenile X-Linked 1
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Retinoschisis, Juvenile, X-Linked
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Retinoschisis, Degenerative
|
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Night Blindness |
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Choroid Disease |
Choroid Diseases
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Abnormality Of The Choroid
|
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Vitreoretinochoroidopathy |
Autosomal Dominant Vitreoretinochoroidopathy
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Advirc
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Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
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Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
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Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2
|
Vitreoretinochoroidopathy Dominant
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VRCP
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Vitreoretinochoroidopathy, Autosomal Dominant
|
Vrcp Autosomal Dominant
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Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma
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Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
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Macular Dystrophy, Patterned, 2 |
Patterned Macular Dystrophy 2
|
MDPT2
|
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
|
Butterfly-Shaped Pigmentary Maculary Dystrophy 2
|
|
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Newfoundland Rod-Cone Dystrophy |
Newfoundland Cone-Rod Dystrophy
|
NFRCD
|
Rod-Cone Dystrophy Newfoundland
|
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Scotoma |
Enlarged Blind Spot
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Scotoma Of Blind Spot Area
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Blind Spot Area Scotoma
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Enlarged Angioscotoma
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Enlarged Paracaecal Scotoma
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Generalized Visual Field Contraction Or Constriction
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Sector Or Arcuate Visual Field Defects
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|
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Gyrate Atrophy Of Choroid And Retina |
Gyrate Atrophy
|
Ornithine Aminotransferase Deficiency
|
HOGA
|
Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
|
Oat Deficiency
|
Okt Deficiency
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Hyperornithinemia
|
Ornithine Keto Acid Aminotransferase Deficiency
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Ornithine-Delta-Aminotransferase Deficiency
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Gyrate Atrophy Of The Choroid And Retina
|
GACR
|
Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
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Gyrate Atrophy Of The Retina
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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
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Ornithine Ketoacid Aminotransferase Deficiency
|
Atrophy, Gyrate, Of Choroid And Retina
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|
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Basal Laminar Drusen |
Drusen Of Bruch Membrane
|
Drusen, Cuticular
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Drusen, Early Adult-Onset, Grouped
|
Cuticular Drusen
|
Early Adult-Onset Grouped Drusen
|
BLD
|
Drusen Cuticular
|
Drusen Early Adult-Onset Grouped
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Patterned Macular Dystrophy |
Patterned Dystrophy Of Retinal Pigment Epithelium
|
|
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Eye Degenerative Disease |
|
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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
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Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
Optic Atrophy, Hereditary, Leber
|
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Retinal Cone Dystrophy 4 |
RCD4
|
Doid:0081023
|
Dystrophy, Retinal Cone, Type 4
|
|
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Hereditary Retinal Dystrophy |
Hereditary Retinal Dystrophies
|
|
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Absolute Glaucoma |
Blind Hypertensive Eye
|
Glaucoma Absolute
|
|
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Gender Incongruence |
Gender Dysphoria
|
Transsexualism
|
Gender Identify Disorder
|
|
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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
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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
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Monochromacy, Blue Cone
|
Cone Monochromatism
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Achromatopsia Incomplete, X-Linked
|
|
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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
|
|
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Achromatopsia |
Achm
|
Rod Monochromatism
|
Total Color Blindness
|
Rod Monochromacy
|
Monochromatism
|
Achromatism
|
Complete Or Incomplete Color Blindness
|
Pingelapese Blindness
|
Achromatopsia 1
|
Achromatopsia 2
|
Achromatopsia 3
|
|
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Retinal Drusen |
|
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Leber Congenital Amaurosis 4 |
LCA4
|
Retinitis Pigmentosa, Juvenile
|
Cone-Rod Dystrophy
|
Leber Congenital Amaurosis, Type 4
|
Retinitis Pigmentosa
|
|
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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
|
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Prolonged Electroretinal Response Suppression |
|
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Congenital Stationary Night Blindness |
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
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Complete Androgen Insensitivity Syndrome |
Cais
|
Complete Androgen Resistance Syndrome
|
Androgen Insensitivity Syndrome Complete
|
Androgen Insensitivity, Complete
|
Androgen-Insensitivity Syndrome
|
Testicular Feminization
|
|
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Androgen Insensitivity Syndrome |
Androgen Resistance Syndrome
|
AIS
|
Testicular Feminization Syndrome
|
Androgen Receptor Deficiency
|
Dhtr Deficiency
|
Dihydrotestosterone Receptor Deficiency
|
Ar Deficiency
|
Testicular Feminization
|
Tfm
|
Androgen Insensitivity
|
Androgen-Insensitivity Syndrome
|
Goldberg-Maxwell Syndrome
|
Complete Androgen Insensitivity Syndrome
|
Cais
|
Feminisation - Testicular
|
Goldberg - Maxwell Syndrome
|
Androgen Insensitivity Syndrome, Complete
|
Morris Syndrome
|
Ary
|
AR
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Insensitivity Syndrome, Androgen
|
Androgen Insensitivity Nos
|
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Nanophthalmos |
|
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Usher Syndrome Type 2 |
Ush2
|
Usher Syndrome Type Ii
|
|
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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
|
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Exudative Vitreoretinopathy |
Familial Exudative Vitreoretinopathy
|
Fevr
|
Criswick-Schepens Syndrome
|
Exudative Vitreoretinopathy, Familial
|
Vitreoretinopathy, Exudative )
|
Exudative Vitreoretinopathy 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
|
|
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Eye Disease |
Eye Diseases
|
Abnormality Of The Eye
|
Toxoplasma Oculopathy
|
|
|
Amyotrophic Lateral Sclerosis 1 |
Amyotrophic Lateral Sclerosis
|
ALS
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
Charcot Disease
|
ALS1
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
Lou Gehrig'S Disease
|
Mnd
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
Progressive Atrophic Paralysis
|
|
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Bardet-Biedl Syndrome |
Bbs
|
Biedl-Bardet Syndrome
|
|
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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
|
|
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