Sickle Cell Disease Ontology Project

Sickle Cell Disease A/Jamaica Plain

http://scdontology.h3abionet.org/ontology/SCDO_1000164


Sickle cell disease caused by two mutations in the same beta globin allele, specifically the sickle cell mutation beta6 Glu > Val and a second beta68 Leu > Phe mutation.The other beta globin allele produces normal beta globin chains.

Term info

created by

Jade Hotchkiss

creation date

2018-09-04T19:46:22.179Z

curator note

Request inclusion into relevant ontology

dc:creator

SCDO (Jade Hotchkiss)

dc:source

https://www.nejm.org/doi/full/10.1056/NEJMoa040771#t=article