[Obo-discuss] blood group systems

[Nicole W. <NLW...@lb...>]

hello all,

so here's something interesting i've stumbled upon.  there's no good way
of discussing or referencing a 'blood group' in an ontology currently.

i was trying to attribute phenotypes to the 'YT blood group', which is
caused by a mutation in acetylcholine esterase.  however, there's no
object such as a 'blood group' or 'blood group system', either in FMA, or
GO, or otherwise.

the dellema is how to capture the blood group information.  should
specific blood groups be predefined within an ontology (such as ABO, YT,
Kell, etc.), say as is_a blood_group/system?  and furthermore, should a
blood_group_system be a kind_of blood (say in FMA), or be a GO term within
biological_process?  or should there be new kinds of eurythrocytes that
indicate different kinds of surface antigens?

and if none of those things seem to work, how would you attribute a
mutation in a gene to a blood group, such as:
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112100
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110800

nicole