Sickle Cell Disease Ontology Project

SCD Causal Mutation

http://scdontology.h3abionet.org/ontology/SCDO_1000038

A mutation wholly or partly responsible for causing a sickle cell disease.

Term info

curator note

Request inclusion into relevant ontology B-Thal mutations: -- http://onlinelibrary.wiley.com/doi/10.1111/j.1582-4934.2004.tb00278.x/pdf -- https://www.ncbi.nlm.nih.gov/pubmed/15153712

dc:creator

SCDO (Jade Hotchkiss)

existence in other ontologies

None

Term relations

Subclass of:

Mutation