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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, haemoglobin H type, alpha thalassemia, hemoglobin H type, alpha-thalassemia intermedia, haemoglobin H disease, haemoglobin H disease, deletional, hemoglobin H disease, deletional

In OMIM:
OMIM:613978 - HEMOGLOBIN H DISEASE; HBH

In Mondo Disease Ontology:
MONDO:0013512 - hemoglobin H disease

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hba1, hba2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): alpha thalassemia (is_a)