C1623209_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A syndrome of multiple congenital anomalies with characteristics of radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula) and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis and Duane anomaly).The phenotype overlaps with related disorders including Okihiro syndrome and Holt-Oram syndrome. Transmission is autosomal dominant.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C1623209>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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