Sickle Cell Disease Ontology Project

Hemoglobin D Disease

http://scdontology.h3abionet.org/ontology/SCDO_0000524

An autosomal recessive hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).

Term info

curator note

Suggest update to description in ORDO

definition source

http://www.orpha.net/ORDO/Orphanet_90039, http://www.doh.wa.gov/Portals/1/Documents/5220/HbDFactSheet.pdf

existence in other ontologies

Suggest update to description

Homozygous Hemoglobin D, Hb DD

Term relations