Sickle Cell Disease Ontology Project

Mutation

http://scdontology.h3abionet.org/ontology/SCDO_0001370

A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene.

Term info

database cross reference
  • IDOMAL:50000026
curator note

Perhaps include here an "Alpha Thalassemia Mutation" sub-class? Could use the current description for "Alpha-Globin Locus Deletion" and instead give "Alpha-Globin Locus Deletion" a description similar to that of "Beta-Globin Locus Deletion"

database cross reference

IDOMAL:50000026

definition source

http://purl.obolibrary.org/obo/IDOMAL_50000026

Term relations

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