Sickle Cell Disease Ontology Project

SCD Genotype

http://scdontology.h3abionet.org/ontology/SCDO_1000048


The alleles, or variant forms of the HBB gene, that are carried by an SCD sufferer.

Term info

curator note

Probably too specific to be included in other ontologies. Paper mentioning haplotypes and severity: -- https://www.nature.com/scitable/topicpage/sickle-cell-anemia-a-look-at-global-8756219 -- -- Table of SCD Genotypes: -- http://onlinelibrary.wiley.com/doi/10.1111/j.1582-4934.2004.tb00278.x/pdf -- -- HBB allelic variants: -- https://www.omim.org/entry/141900#0243 -- -- Perhaps have parent class Hemoglobinopathy Genotype, with Hemoglobinopathy Trait below that?

dc:creator

SCDO (Jade Hotchkiss)

dc:source

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459467/

definition source

http://www.nature.com/scitable/definition/genotype-234

Sickle Cell Disease Genotype, Sickle Genotype

Term relations