Search Ontology:
Human Disease
familial erythrocytosis 4
- Term ID
- DOID:0080339
- Synonyms
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- ECYT4
- 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 )
- is a type of
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Zebrafish Models