OBO ID: DOID:0111562
Term Name: overhydrated hereditary stomatocytosis Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111562 )
Relationships
is a type of:
OTHER overhydrated hereditary stomatocytosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RHAG Overhydrated hereditary stomatocytosis 185000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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