Ontology Browser

familial erythrocytosis 4 (DOID:0080339)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
familial erythrocytosis 1  
familial erythrocytosis 2  
familial erythrocytosis 3  
familial erythrocytosis 4  
A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. (DO)
familial erythrocytosis 5  
Familial Erythrocytosis 6  
Familial Erythrocytosis 7  
polycythemia vera +   

Exact Synonyms: ECYT4
Primary IDs: MESH:C567086
Alternate IDs: DOID:9001085 ;   OMIM:611783 ;   RDO:0015260
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/18184961

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.