| Metadata | |
|---|---|
| ID | DOID:0111562 |
| Name | overhydrated hereditary stomatocytosis |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/21849667, https://www.ncbi.nlm.nih.gov/pubmed/18931342 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
OHS [EXACT] potassium sodium disorder of erythrocyte [EXACT] stomatocytosisIOHST [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a macrocytic anemia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |