ZFIN Human Disease: familial erythrocytosis 3

OBO ID: DOID:0080338

Term Name:	familial erythrocytosis 3		Search Ontology:
Synonyms:	ECYT3
Definition:	A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. https://www.ncbi.nlm.nih.gov/pubmed/16407130
References:	OMIM:609820
Ontology:	Human Disease ( DOID:0080338 )

Relationships

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

OTHER familial erythrocytosis 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EGLN1	egln1a egln1b	Erythrocytosis, familial, 3	609820

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None