OBO ID: DOID:0080339 |
Term Name: | familial erythrocytosis 4 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0080339 ) |
OTHER familial erythrocytosis 4 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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