Congenital erythrocytosis
cv_term_accession
KW-0985
canonical
uniprot_keyword
KW-0985
canonical
name
Congenital erythrocytosis
uniprot
synonym
Congenital polycythemia
uniprot
definition
Protein which, if defective, causes congenital absolute erythrocytosis, a disorder characterized by expansion of the erythrocyte compartment in the peripheral blood. Total red cell mass is increased in the absence of a reduction of plasma volume. Erythrocytoses are usually divided into primary and secondary forms. Primary erythrocytoses are due to defects in the erythroid progenitors and are characterized by low erythropoietin levels. Secondary erythrocytoses can be due to defects in hypoxia sensing, or to conditions that cause low tissue oxygen tension with consequent increase in erythropoietin secretion.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords