C4708104_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes.
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?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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