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Sialic Acid Storage Disease

Disease ID: disease_node_11012

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DbxrefMESH:D029461, MIM:269921, MIM:604369, NCI:C85067, SNOMEDCT_US_2023_03_01:238051008, UMLS_CUI:C0342853
SubclassofDOID_3211
Data SourceDOID, MESH
Mesh IdD029461
Mesh LabelSialic Acid Storage Disease
Mesh SubclassofD020140
Doid Labelsialuria
Doid DescriptionA lysosomal storage disease characterized by increased sialic acid in the urine. OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
Disease Node Iddisease_node_11012
Doid IdDOID_3659
LabelSialic Acid Storage Disease