C3695272_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A type of oculocutaneous albinism recently discovered in one Chinese family, with characteristics of light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Caused by mutations in the SLC24A5 gene (15q21.1).
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C3695272>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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