Term Name: | dehydrated hereditary stomatocytosis 2 |
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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 ) |