| Diseases |
Alias |
|
| Macular Degeneration, Age-Related, 2 |
|
Age Related Macular Degeneration 2
|
ARMD2
|
|
Macular Degeneration, Senile
|
Maculopathy, Age-Related, 2
|
|
Macular Degeneration, Age-Related, 2, Susceptibility To
|
Macular Degeneration, Age-Related, Type 2
|
|
|
| Cone-Rod Dystrophy 3 |
|
CORD3
|
Dystrophy, Cone Rod, Type 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
|
|
|
| Retinitis Pigmentosa 19 |
|
RP19
|
Retinitis Pigmentosa-19
|
|
Retinitis Pigmentosa, Type 19
|
|
|
| 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
|
|
|
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Eosrd
|
Early-Onset Severe Retinal Dystrophy
|
|
Secord
|
Retinal Dystrophy, Early Onset Severe
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Retinal Disease |
|
Retinal Diseases
|
Retinal Disorder
|
|
Retinal Disorders
|
|
|
| Isolated Macular Dystrophy |
|
|
| Vitreoretinal Degeneration |
|
|
| 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
|
|
|
| Vitreoretinopathy |
|
|
| 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
|
|
|
| Progressive Cone Dystrophy |
|
Cone Dystrophy
|
Cone Dystrophy Progressive
|
|
|
| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
|
Cone Dystrophy 3
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| 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
|
|
|
| Congenital Stationary Night Blindness |
|
Night Blindness, Congenital Stationary
|
Congenital Essential Nyctalopia
|
|
Oguchi Disease
|
Blindness, Night, Stationary, Congenital
|
|
|
| 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
|
|
|
| Stargardt Disease 3 |
|
STGD3
|
Macular Dystrophy With Flecks, Type 3
|
|
Stargardt-Like Macular Dystrophy, Autosomal Dominant
|
Macular Dystrophy Autosomal Dominant Chromosome 6-Linked
|
|
Macular Dystrophy With Flecks Type 3
|
Stargardt-Like Macular Dystrophy
|
|
Macular Dystrophy, Autosomal Dominant, Chromosome 6-Linked
|
|
|
| Macular Dystrophy, Concentric Annular |
|
Mcdca
|
Maculopathy, Bull'S Eye
|
|
|
| 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
|
|
|
| Retinitis |
|
|
| 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
|
|
|
| Retinal Degeneration |
|
|
| Occult Macular Dystrophy |
|
OCMD
|
Omd
|
|
Dystrophy, Macular, Occult
|
|
|
| Hereditary Choroidal Atrophy |
|
Hereditary Choroidal Dystrophy
|
|
|
| Partial Central Choroid Dystrophy |
|
Choroidal Dystrophy, Central Areolar
|
|
|
| Retinitis Pigmentosa 3 |
|
RP3
|
Retinitis Pigmentosa 15
|
|
Rp15
|
Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women
|
|
Cone-Rod Degeneration, X-Linked
|
Retinitis Pigmentosa Type 15
|
|
X-Linked Cone-Rod Degeneration
|
X-Linked Retinitis Pigmentosa 3
|
|
Xlrp3
|
Xlrp-3
|
|
Retinitis Pigmentosa-3
|
Retinitis Pigmentosa, Type 3
|
|
|
| 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
|
|
|
| Eye Degenerative Disease |
|
|
| Solar Retinopathy |
|
|
| 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
|
|
|
| Haemonchiasis |
|
|
| Pseudoxanthoma Elasticum |
|
PXE
|
Gronblad-Strandberg Syndrome
|
|
Pseudoxanthoma Elasticum, Modifier Of Severity Of
|
Gronblad-Strandberg-Touraine Syndrome
|
|
Gronblad Strandberg Syndrome
|
Groenblad-Strandberg Syndrome
|
|
Nevus Elasticus
|
Pxe - [Pseudoxanthoma Elasticum]
|
|
|
| Night Blindness |
|
|
| Cone-Rod Dystrophy 12 |
|
CORD12
|
Dystrophy, Cone-Rod, Type 12
|
|
|
| Choroid Disease |
|
Choroid Diseases
|
Abnormality Of The Choroid
|
|
|
| Hereditary Retinal Dystrophy |
|
Hereditary Retinal Dystrophies
|
|
|
| Glaucoma, Primary Open Angle |
|
Glaucoma 1, Open Angle, E
|
Primary Open Angle Glaucoma
|
|
POAG
|
Adult-Onset Primary Open Angle Glaucoma
|
|
Chronic Simple Glaucoma
|
GLC1E
|
|
Primary Open Angle Glaucoma 1e
|
Glaucoma, Open Angle, Primary
|
|
|
| Peripheral Retinal Degeneration |
|
Peripheral Degeneration Of Retina
|
Degeneration Of Retina Nos
|
|
Reticular Retinal Degeneration
|
Retinal Degeneration
|
|
|
| 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
|
|
|
| Toxoplasmosis |
|
Disseminated Toxoplasmosis
|
Multisystemic Disseminated Toxoplasmosis
|
|
Acquired Toxoplasmosis
|
Toxoplasmosis Disease Or Disorder
|
|
Infection By Toxoplasma Gondii
|
Toxoplasmal
|
|
Toxoplasma
|
|
|
| Toxic Maculopathy |
|
Toxic Maculopathy Of Retina
|
|
|
| Pigmented Paravenous Chorioretinal Atrophy |
|
Pigmented Paravenous Retinochoroidal Atrophy
|
PPCRA
|
|
Pprca
|
Atrophy, Chorioretinal, Pigmented Paravenous
|
|
|
| Chorioretinal Scar |
|
Chorioretinal Cicatrix
|
Cicatrix Of Choroid
|
|
Choroid Scar
|
Macula Scar
|
|
Macular Scarring
|
Retinal Cicatrix
|
|
Retinal Scar
|
|
|
| Bestrophinopathy, Autosomal Recessive |
|
Bestrophinopathy
|
Autosomal Recessive Bestrophinopathy
|
|
ARB
|
Bestrophinopathies
|
|
Retinopathy, Burgess-Black Type
|
Retinopathy Burgess-Black Type
|
|
|
| Vitelliform Macular Dystrophy |
|
Best Disease
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
|
Macular Dystrophy, Vitelliform
|
Best Macular Dystrophy
|
|
Vitelliform Dystrophy
|
|
|
| Basal Laminar Drusen |
|
Drusen Of Bruch Membrane
|
Drusen, Cuticular
|
|
Drusen, Early Adult-Onset, Grouped
|
Cuticular Drusen
|
|
Early Adult-Onset Grouped Drusen
|
BLD
|
|
Drusen Cuticular
|
Drusen Early Adult-Onset Grouped
|
|
|
| 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
|
|
|
| Achromatopsia |
|
Achm
|
Rod Monochromatism
|
|
Total Color Blindness
|
Rod Monochromacy
|
|
Monochromatism
|
Achromatism
|
|
Complete Or Incomplete Color Blindness
|
Pingelapese Blindness
|
|
Achromatopsia 1
|
Achromatopsia 2
|
|
Achromatopsia 3
|
|
|
| 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
|
|
|
| Retinitis Pigmentosa 39 |
|
RP39
|
Retinitis Pigmentosa, Type 39
|
|
|
| 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
|
|
|
| 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
|
|
|
| Macular Degeneration, Age-Related, 4 |
|
Age Related Macular Degeneration 4
|
ARMD4
|
|
Macular Degeneration, Age-Related, Type 4
|
|
|
| Albinism, Oculocutaneous, Type Ia |
|
Oculocutaneous Albinism Type 1
|
OCA1A
|
|
Oca1
|
Oculocutaneous Albinism, Tyrosinase-Negative
|
|
Atn
|
Tyrosinase-Negative Oculocutaneous Albinism
|
|
Albinism I
|
Oculocutaneous Albinism Type Ia
|
|
Oculocutaneous Albinism Type 1a
|
Oculocutaneous Albinism, Type I
|
|
Albinism 1
|
Oculocutaneous Albinism, Tyrosinase Negative
|
|
Albinism, Oculocutaneous, 1a
|
Albinism Oculocutaneous Ia
|
|
Oca-1a
|
Oca-Ia
|
|
Oculocutaneous Albinism Tyrosinase Negative
|
Albinism, Oculocutaneous, Type I
|
|
|
| Leber Congenital Amaurosis 10 |
|
LCA10
|
Leber Congenital Amaurosis, Type 10
|
|
|
| Fundus Albipunctatus |
|
Retinitis Punctata Albescens
|
Pigmentary Retinal Dystrophy
|
|
RPA
|
Albipunctate Retinal Dystrophy
|
|
Lauber'S Disease
|
FALBI
|
|
Fa
|
|
|
| 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
|
|
|
| Retinal Drusen |
|
|
| 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
|
|
|
| Choroideremia |
|
CHM
|
Tcd
|
|
Progressive Tapetochoroidal Dystrophy
|
Choroidal Sclerosis
|
|
Tapetochoroidal Dystrophy, Progressive
|
Progressive Choroidal Atrophy
|
|
Tapetochoroidal Dystrophy
|
|
|
| Interval Angle-Closure Glaucoma |
|
Intermittent Angle-Closure Glaucoma
|
Angle-Closure Glaucoma, Subacute
|
|
Prodromal Angle Closure Glaucoma
|
|
|
| Alternating Exotropia |
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
DHRD
|
Doyne Honeycomb Degeneration Of Retina
|
|
Dhd
|
Malattia Leventinese
|
|
Ml
|
Mlvt
|
|
Dystrophy, Retinal, Doyne Honeycomb
|
|
|
| Usher Syndrome Type 2 |
|
Ush2
|
Usher Syndrome Type Ii
|
|
|
| Optic Disk Drusen |
|
Optic Disc Drusen
|
Drusen Of Optic Disc
|
|
Optic Nerve Head Drusen
|
Drusen Optic Disc
|
|
|
| Usher Syndrome, Type Iia |
|
Usher Syndrome Type 2a
|
USH2A
|
|
Usher Syndrome, Type 2a
|
Usher Syndrome Type Iia
|
|
Retinal Disease In Usher Syndrome Type Iia, Modifier Of
|
Us2
|
|
Ush2
|
Usher Syndrome 2a
|
|
Usher'S Syndrome Type 2a
|
Ushiia
|
|
|
| Cone-Rod Dystrophy, X-Linked, 1 |
|
CORDX1
|
X-Linked Cone-Rod Dystrophy 1
|
|
Cod1
|
Cone Dystrophy X-Linked 1
|
|
X-Linked Cone Dystrophy 1
|
Cone-Rod Dystrophy X-Linked 1
|
|
Cone-Rod Dystrophy, X-Linked 1
|
Dystrophy, Cone-Rod, X-Linked, Type 1
|
|
Cone Dystrophy, X-Linked, 1
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| 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
|
|
|
| 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
|
|
|
| Hypolipoproteinemia |
|
Hypolipoproteinaemia
|
Lipoprotein Deficiencies
|
|
Lipoprotein Disorder
|
Hypolipoproteinemias
|
|
Lipoprotein
|
Lipoprotein Deficiency
|
|
Hypolipidaemia
|
Lipoprotein Deficiency Disorder
|
|
High-Density Lipoid Deficiency
|
High-Density Lipoprotein Deficiency
|
|
Dyslipidaemia, Depressed Hdl Cholesterol
|
|
|
| Sensory System Disease |
|
|
| Macular Retinal Edema |
|
Macular Edema
|
Macular Oedema
|
|
Macular Retinal Oedema
|
Macular Edema, Cystoid
|
|
|
| Sorsby Fundus Dystrophy |
|
SFD
|
Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
|
|
Sorsby'S Fundus Dystrophy
|
Macular Dystrophy, Hemorrhagic
|
|
Hemorrhagic Macular Dystrophy
|
Pseudoinflammatory Fundus Dystrophy Of Sorsby
|
|
Sorsby'S Pseudoinflammatory Macular Dystrophy
|
Sorsby Pseudoinflammatory Fundus Dystrophy
|
|
Dystrophy, Fundus, Sorsby
|
|
|
| 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
|
|
|
| Nystagmus 3, Congenital, Autosomal Dominant |
|
NYS3
|
Congenital Nystagmus 3
|
|
Autosomal Dominant Congenital Nystagmus 3
|
|
|
| Macular Holes |
|
|
| Refractive Error |
|
|
| Tangier Disease |
|
Analphalipoproteinemia
|
High Density Lipoprotein Deficiency, Tangier Type
|
|
TGD
|
High Density Lipoprotein Deficiency, Type 1
|
|
Hdldt1
|
Familial High Density Lipoprotein Deficiency
|
|
A-Alphalipoprotein Neuropathy
|
Alpha High Density Lipoprotein Deficiency Disease
|
|
Cholesterol Thesaurismosis
|
Familial High Density Lipoprotein Deficiency Disease
|
|
Hdl Lipoprotein Deficiency Disease
|
Tangier Disease Neuropathy
|
|
Familial Alpha-Lipoprotein Deficiency
|
Familial High-Density Lipoprotein Deficiency 1
|
|
Primary Hypoalphalipoproteinemia 1
|
Analphalipo-Proteinemia
|
|
Familial Hypoalphalipo-Proteinemia
|
Familial Hypoalphalipoproteinemia
|
|
Lipoprotein Deficiency Disease, Hdl, Familial
|
Tangier Hereditary Neuropathy
|
|
Atp-Binding Cassette Transporter A1 Deficiency
|
Hdld1
|
|
High Density Lipoprotein Deficiency 1
|
Tangier Disease, Variant
|
|
Hypoalphalipoproteinemia, Familial
|
Familial Hdl Deficiency
|
|
|
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Cbld Type, Variant 1
|
Methylmalonic Aciduria And Homocystinuria Type Cbld
|
|
Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2
|
MAHCD
|
|
Methylmalonic Acidemia And Homocystinuria, Cbld Type
|
Methylmalonic Aciduria, Cblh Type, Formerly
|
|
Methylmalonic Acidemia, Cblh Type, Formerly
|
Methylmalonic Aciduria, Cbld Type, Variant 2
|
|
Cobalamin D Deficiency
|
Methylcobalamin Deficiency Type Cbldv1
|
|
Functional Methionine Synthase Deficiency Type Cbldv1
|
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2
|
|
Methylmalonic Acidemia With Homocystinuria, Type Cbld
|
Cbld Defect
|
|
Cobalamin D Defect
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld
|
|
Methylmalonic Aciduria With Homocystinuria, Type Cbld
|
Homocystinuria Cbld Variant 1
|
|
Methylmalonic Acidemia And Homocystinuria Cbld Type
|
Methylmalonic Aciduria And Homocystinuria Cbld-Combined
|
|
Methylmalonic Aciduria And Homocystinuria Cbld Original
|
Methylmalonic Aciduria Cbld Variant 2
|
|
Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
|
|
|
| Exotropia |
|
Divergent Concomitant Strabismus
|
Divergent Strabismus
|
|
Divergent Squint
|
External Strabismus
|
|
Xt - [Exotropia]
|
|
|
| Exudative Vitreoretinopathy |
|
Familial Exudative Vitreoretinopathy
|
Fevr
|
|
Criswick-Schepens Syndrome
|
Exudative Vitreoretinopathy, Familial
|
|
Vitreoretinopathy, Exudative )
|
Exudative Vitreoretinopathy 1
|
|
|
| Hypoalphalipoproteinemia, Primary, 1 |
|
Familial Hdl Deficiency
|
Fha
|
|
High Density Lipoprotein Deficiency
|
Familial Hypoalphalipoproteinemia
|
|
Hypoalphalipoproteinemia, Familial
|
Hdld
|
|
Fhd
|
Hdl Deficiency, Type 2
|
|
Primary Hypoalphalipoproteinemia 1
|
Hdl Cholesterol, Low Serum
|
|
Hdlc
|
Hdl Deficiency, Familial, 1
|
|
Hypoalphalipoproteinemia, Primary
|
Low Serum Hdl Cholesterol
|
|
Primary Hypoalphalipoproteinemia
|
FHA1
|
|
Hdld2
|
High Density Lipoprotein Deficiency 2
|
|
Hypoalphalipoproteinemias
|
Apolipoprotein A-I Deficiency
|
|
|
| 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
|
|
|
| Autosomal Recessive Congenital Ichthyosis |
|
Lamellar Ichthyosis
|
Congenital Ichthyosiform Erythroderma
|
|
Li
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
|
Arci
|
Congenital Lamellar Ichthyosis
|
|
Nonbullous Congenital Ichthyosiform Erythroderma
|
Cie
|
|
Congenital Non-Bullous Ichthyosiform Erythroderma
|
Erythrodermic Ichthyosis
|
|
Nbcie
|
Ncie
|
|
Non-Bullous Congenital Ichthyosiform Erythroderma
|
Collodion Baby
|
|
Ichthyosis, Lamellar
|
Non Bullous Congenital Ichthyosiform Erythroderma
|
|
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form
|
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
|
|
Collodion Baby Syndrome
|
Ichthyoses, Lamellar
|
|
Nbie
|
Nonbullous Ichthyosiform Erythroderma
|
|
Classic Lamellar Ichthyosis
|
Ichthyosiform Erythroderma Nonbullous Congenital
|
|
Ichthyosiform Erythroderma Congenital
|
Ichthyosis, Congenital, Autosomal Recessive
|
|
Ichthyosiform Erythroderma, Congenital
|
Collodion Fetus
|
|
Non-Bullous Ichthyosiform Erythroderma
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Orofacial Cleft |
|
|
| Nanophthalmos |
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
