Version: 8.0.0
Date: Tue Jan 28 2025
dehydrated hereditary stomatocytosis 2
DOID:0111577
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

dehydrated hereditary stomatocytosis 2

Definition
A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.
Synonyms
  • desiccytosis Gardos
  • xerocytosis Gardos
Cross References
Parent Terms
Child Terms
None
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