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DO Term : familial erythrocytosis 6 [DOID:0111632] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
beta-globin type erythrocytosis,
617980,
ECYT6,
beta-globin type polycythemia,
OMIM:617980

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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