Sickle Cell Disease Ontology Project

Sickle Cell Disease-S/D-Punjab

http://scdontology.h3abionet.org/ontology/SCDO_0001061

A rare compound heterozygous hemoglobinopathy characterised by the presence of two beta globin gene variants: that of hemoglobin S (beta-6(GAG-->GTG)) and that of hemoglobin D-Punjab (beta-121(GAA-->CAA)).

Term info

curator note

Request inclusion into relevant ontology. Perhaps as sub-class of "Sickle Cell-Hemoglobin D Disease" in the NCIT.

dc:source

http://purl.bioontology.org/ontology/RCD/D1064

definition source

Rahimah Ahmad*, Syahira Lazira Omar*, Siti Hida H M Arif*, Faidatul Syazlin A Hamid*, Nur Aisyah Aziz*, Nik Hafidzah N Mustapha**, Zubaidah Zakaria*Haemoglobin Sickle D Punjab: - A Case Report. Med J Malaysia. 2014. Vol 69 No 1.

existence in other ontologies

Few but definitions not freely available

Sickle Cell-Haemoglobin D-Punjab, Haemoglobin S/D-Punjab, Double heterozygous for Hb S + Hb D Punjab, Sickle Cell-Hemoglobin D-Punjab Disease, Hemoglobin S/D-Punjab