ZFIN Human Disease: familial erythrocytosis 2

OBO ID: DOID:0060474

Term Name:	familial erythrocytosis 2		Search Ontology:
Synonyms:	autosomal recessive benign erythrocytosis Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia ECYT2
Definition:	A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/15725900
References:	ICD10CM:D75.1 OMIM:263400 ORDO:238557
Ontology:	Human Disease ( DOID:0060474 )

Relationships

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

OTHER familial erythrocytosis 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
VHL	vhl	Erythrocytosis, familial, 2	263400

ZEBRAFISH MODELS

Fish	Conditions	Citations
vhl^{hu2081/hu2081}	standard conditions	van Rooijen et al., 2009
vhl^{hu2117/hu2117}	standard conditions	van Rooijen et al., 2009
vhl^hu2081/+; vhl^hu2117/+	standard conditions	van Rooijen et al., 2009

PHENOTYPE No data available

CITATIONS (1)