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Metadata
DOID DOID:0050461
Name aspartylglucosaminuria
Definition A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria
Xrefs

GARD:5854

ICD10CM:E77.1

MESH:D054880

NCI:C61273

OMIM:208400

SNOMEDCT_US_2018_03_01:54954004

UMLS_CUI:C0268225

Subsets

NCIthesaurus

Synonyms

ASPARTYLGLUCOSAMINIDASE DEFICIENCY [EXACT]

aspartylglycosaminuria [EXACT]

GLYCOSYLASPARAGINASE DEFICIENCY [EXACT]

Relationships

is_a lysosomal storage disease

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