familial erythrocytosis 6

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Echinobase

Summary

Literature (0)

DOID:0111632 - familial erythrocytosis 6

Disease Ontology Definition:A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.

Synonyms: ECYT6, beta-globin type erythrocytosis, beta-globin type polycythemia,

Echinobase 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

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

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

Parent(s): primary polycythemia (is_a)