ZFIN Human Disease: familial erythrocytosis 1

OBO ID: DOID:0060652

Term Name:	familial erythrocytosis 1		Search Ontology:
Synonyms:	autosomal dominant benign erythrocytosis ECYT1 primary familial and congenital polycythemia
Definition:	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. https://www.ncbi.nlm.nih.gov/pubmed/9292543
References:	ICD10CM:D75.0 OMIM:133100 ORDO:90042
Ontology:	Human Disease ( DOID:0060652 )

Relationships

is a type of:	autosomal dominant disease primary polycythemia autosomal dominant disease primary polycythemia Show first 5 Terms

OTHER familial erythrocytosis 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EPOR	epor	[Erythrocytosis, familial, 1]	133100
JAK2	jak2b jak2a	Erythrocytosis, somatic	133100
SH2B3	sh2b3	Erythrocytosis, somatic	133100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None