familial erythrocytosis 7

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Summary

Literature (0)

DOID:0111631 - familial erythrocytosis 7

Disease Ontology Definition:A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.

Synonyms: alpha-globin type erythrocytosis, alpha-globin type polycythemia, ECYT7

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hba1, hba2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): primary polycythemia (is_a)