Sickle Cell Disease Ontology Project

Hemoglobin D-Punjab

http://scdontology.h3abionet.org/ontology/SCDO_0000528

An abnormal hemoglobin (one of the types of hemoglobin D) in which glutamine replaces glutamic acid at codon 121 of beta globin.

Term info

curator note

Request inclusion in the HPO, below "Abnormal Hemoglobin"/"Hemoglobin D".

definition source

http://health.utah.gov/nsp/Disorders/HB/Hb_D_Disease_DD/FactSheet_Provider_HbDD_En.pdf

existence in other ontologies

Few but definitions not freely available

Hemoglobin D (Portugal), Hemoglobin Oak Ridge, Hemoglobin D (Chicago), Hemoglobin D (Punjab), Hb D-Los Angelese, Hemoglobin D (Los Angeles), Hemoglobin D (North Carolina)