Term Name: dehydrated hereditary stomatocytosis 2
Synonyms: desiccytosis Gardos, xerocytosis Gardos
Definition: A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.
Ontology: Human Disease [DOID:0111577]   ( DOID:0111577 )

Relationships
is a type of: autosomal dominant disease dehydrated hereditary stomatocytosis