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Biomarker for Maroteaux-Lamy DiseaseMulti-dose Study for Efficacy, Safety, Tolerability, Exposure of QR-110 in LCA10Extension Study to Study PQ-110-001 (NCT03140969)Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A GeneRiboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VIIndependent Prescribing Optometrists in Acute Ophthalmic ServicesComparison of Non-mydriatic Camera Systems in a Female Health HospitalRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordEpidemiological Profile of Ophthalmological Care in the Public Service in BrazilAssessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert SyndromeThe Stroke Vision App: A Screening Tool for Visual StrokeSurgical Management of Optic Disc Pit MaculaopathyAbnormalities of the Eye's Anterior Chamber, Iris, Cornea and LensInternational Cohort Study of Children Born to Women Infected With Zika Virus During PregnancyEye and Growth in Adolescents Born Moderate-to-late Preterm
P1050
Walker-Warburg syndromeEye abnormalities in fetal alcohol syndromePhenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairmentA novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature reviewAnterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.Michels syndrome: the first case report from India and review of literatureOcular abnormalities in congenital Zika syndrome: a case report, and review of the literature.PHACE syndrome: clinical manifestations, diagnostic criteria, and management.Brittle cornea syndrome: a case report and review of the literature
P921
Q61965859-CFF49C83-436E-4908-8A9C-0A389C865840Q63578716-DDCE24BD-F009-46FB-9346-E803064740A4Q63578722-F33733CC-C909-42CD-8A6C-EC720F335640Q63587656-1C50323F-FE5D-493E-92DD-2966D9A78D5FQ63813753-8D471373-6A11-47A4-BAEB-5EBB1056B3FEQ64217525-66878A12-ACD8-40B7-916C-2CDE26BCF4C3Q64220792-7C40910F-BAE1-4F0B-BB3B-880AAB5D7B25Q64634650-26105604-5A91-42B3-9910-43CEF793E6EBQ64636080-E9B3C291-F906-450E-AA85-61675CE6600CQ64707709-B41746A8-AE62-490F-8149-17C1FA5DD5DEQ65332249-E8C45E00-C102-4920-ABD1-6C4A935BB504Q66041716-7C274E33-BEE7-4D30-9059-F49462CEAC5BQ66061501-716D07F8-8601-41DE-A12E-9E1D6DE58605Q74276038-15025656-7B0B-42DC-8068-92172A01382FQ79111950-3AF07597-C183-42A7-8A68-A1453D27E40A
P1050
Q21203042-E44E4721-A9D0-485F-B54E-9007F2F54498Q24644653-83C22D2C-DF5F-412F-9CFC-8AE899AA11D0Q24803518-9B785D71-6F4C-4469-B412-25616C57904CQ26779835-230F4CBB-7BE0-4522-B57C-3E5D1BC346C9Q30437983-4ED827CA-2FE4-4FE9-887A-1D3F032CD4CFQ33714416-F47F2A66-F506-4FBB-8AB7-28AD8CB4BA79Q34574645-FD3A1405-AB2D-4D9B-97F0-4FAAC972ECA0Q55084379-BE350D97-D7A4-4CC9-B79B-461475765E38Q55400781-B032F950-B970-4982-A7B9-72D24BB519ADQ58727893-1787601C-1632-4FA8-B22C-A6F4466E00AE
P921
description
congenital absence of or defects in structures of the eye
@en
name
eye abnormalities
@en
malformation oculaire
@fr
type
label
eye abnormalities
@en
malformation oculaire
@fr
altLabel
anomalie de l'œil
@fr
eye abnormality
@en
prefLabel
eye abnormalities
@en
malformation oculaire
@fr