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Category: Eye

47 results
Retinoblastoma Retinoblastoma
Hyperoxaluria Hyperoxaluria
CRD - Cone-rod dystrophy CRD - Cone-rod dystrophy
MZSDS - Mainzer-Saldino syndrome MZSDS - Mainzer-Saldino syndrome
Nystagmus Nystagmus
ARRP - Autosomal recessive retinitis pigmentosa ARRP - Autosomal recessive retinitis pigmentosa
ASGD - Anterior Segment Dysgenesis ASGD - Anterior Segment Dysgenesis
ACHM - Achromatopsia ACHM - Achromatopsia
Flecked Retina Syndrome Flecked Retina Syndrome
HPS - Hermansky-Pudlak syndrome HPS - Hermansky-Pudlak syndrome
Chronic Progressive External Ophthalmoplegia Chronic Progressive External Ophthalmoplegia
Optic Atrophy (incl. LHON hotspots) Optic Atrophy (incl. LHON hotspots)
XLRP - X-linked retinitis pigmentosa XLRP - X-linked retinitis pigmentosa
TSC - Tuberous sclerosis complex (TSC) TSC - Tuberous sclerosis complex (TSC)
JBTS - Joubert syndrome JBTS - Joubert syndrome
Ichthyoses and related disorders of cornification Ichthyoses and related disorders of cornification
WAGR - Wilms tumor, Aniridia, Genitourinary, Mental Retardation Syndrome WAGR - Wilms tumor, Aniridia, Genitourinary, Mental Retardation Syndrome
MCOP - Microphthalmia/Anophthalmia MCOP - Microphthalmia/Anophthalmia
STL - Stickler Syndrome STL - Stickler Syndrome
WS - Waardenburg Syndrome WS - Waardenburg Syndrome
Epidermolysis bullosa Epidermolysis bullosa
RPSY - Syndromic retinitis pigmentosa RPSY - Syndromic retinitis pigmentosa
LCA - Leber congenital amaurosis LCA - Leber congenital amaurosis
Usher-Syndrom Usher-Syndrom
RD,CRD,ARD - Refsum syndrome RD,CRD,ARD - Refsum syndrome
Glaucoma Glaucoma
NCL - Neuronal ceroid lipofuscinosis NCL - Neuronal ceroid lipofuscinosis
DURS - Duane retraction syndrome DURS - Duane retraction syndrome
Corneal Dystrophy Corneal Dystrophy
ALGS - Alagille syndrome ALGS - Alagille syndrome
AS - Alport syndrome AS - Alport syndrome
STGD - Stargardt disease STGD - Stargardt disease
USH1 - Usher syndrome type 1 USH1 - Usher syndrome type 1
CHARGE syndrome CHARGE syndrome
CSNB - Congenital stationary night blindness CSNB - Congenital stationary night blindness
CHS - Chediak-Higashi syndrome CHS - Chediak-Higashi syndrome
ADRP - Autosomal dominant retinitis pigmentosa ADRP - Autosomal dominant retinitis pigmentosa
CFEOM - Congenital Fibrosis Of The Extraocular Muscles CFEOM - Congenital Fibrosis Of The Extraocular Muscles
Ectopia lentis Ectopia lentis
Exudative Vitreoretinopathy (incl. Wagner and Norrie syndrome) Exudative Vitreoretinopathy (incl. Wagner and Norrie syndrome)
WARBM - Warburg Micro Syndrome WARBM - Warburg Micro Syndrome
WWS - Walker-Warburg syndrome WWS - Walker-Warburg syndrome
Albinism Albinism
Myopia Myopia
USH2 - Usher syndrome type 2 USH2 - Usher syndrome type 2
Cataract Cataract
SLSN - Senior-Loken syndrome SLSN - Senior-Loken syndrome
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