Search Ontology:
Human Disease
overhydrated hereditary stomatocytosis
- Term ID
- DOID:0111562
- Synonyms
-
- potassium sodium disorder of erythrocyte
- stomatocytosisIOHST
- Definition
- A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. (2)
- References
-
- GARD:4183
- MIM:185000
- ORDO:3203
- Ontology
- Human Disease ( DOID:0111562 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models