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Dehydrated Hereditary Stomatocytosis 2

Disease ID: disease_node_15283

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DbxrefMIM:616689
SubclassofDOID_0050736, DOID_0111575
Data SourceDOID
Synonymsdesiccytosis Gardos, xerocytosis Gardos
Doid Labeldehydrated hereditary stomatocytosis 2
Doid DescriptionA dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15283
Doid IdDOID_0111577
LabelDehydrated Hereditary Stomatocytosis 2