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Echinobase
Summary Literature (0)
DOID:0110031 - hemoglobin H disease

Disease Ontology Definition:An alpha thalassemia that has material basis in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.

Synonyms: HBH, alpha thalassemia, hemoglobin H type, alpha-thalassemia intermedia, hemoglobin H disease, deletional,

Echinobase Genes :


OMIM:
MIM:613978 - hemoglobin h disease; hbh

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): alpha thalassemia (is_a)