About: familial erythrocytosis 1

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease primary polycythemia nodeID://b50939164
label	familial erythrocytosis 1
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060652
database_cross_reference	ICD10CM:D75.0 OMIM:133100 ORDO:90042
has_exact_synonym	ECYT1 (en) autosomal dominant benign erythrocytosis (en) primary familial and congenital polycythemia (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939165

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