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Metadata
ID DOID:0111577
Name dehydrated hereditary stomatocytosis 2
Definition A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.
https://www.ncbi.nlm.nih.gov/pubmed/26148990
Xrefs

OMIM:616689

Synonyms

desiccytosis Gardos [EXACT]

xerocytosis Gardos [EXACT]

Parent Relationships

is_a dehydrated hereditary stomatocytosis

is_a autosomal dominant disease

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