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General Information
ZIRC
OBO ID: DOID:0080339
Term Name: familial erythrocytosis 4 Search Ontology:
Synonyms:
Definition: A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. https://www.ncbi.nlm.nih.gov/pubmed/18184961
References:
Ontology: Human Disease   (DOID:0080339)
OTHER familial erythrocytosis 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EPAS1 Erythrocytosis, familial, 4 611783
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None