dehydrated hereditary stomatocytosis 2 Disease Ontology Browser

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dehydrated hereditary stomatocytosis 2 (DOID:0111577)
Alliance: disease page
Synonyms: desiccytosis Gardos; xerocytosis Gardos
Alt IDs: OMIM:616689
Definition: A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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