Sickle Cell Disease Ontology Project

Sickle Cell Disease C/S Antilles

http://scdontology.h3abionet.org/ontology/SCDO_1000166


Sickle cell disease caused by two mutations in the same beta globin allele, specifically the sickle cell mutation beta6 Glu > Val and a second beta 23 Val>Ile mutation. The other beta globin allele produces normal beta globin chains.

Term info

created by

Jade Hotchkiss

creation date

2018-09-04T19:48:25.621Z

curator note

Request inclusion into relevant ontology

dc:creator

SCDO (Jade Hotchkiss)

definition source

https://www.omim.org/entry/141900#0244