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aspartylglucosaminuria

Go to external page http://purl.obolibrary.org/obo/DOID_0050461

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. [ url:https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria http://purl.obolibrary.org/obo/ECO_0007637 ]

Synonyms: aspartylglucosaminidase deficiency glycosylasparaginase deficiency aspartylglycosaminuria

This is just here as a test because I lose it

Term information

database cross reference
  • SNOMEDCT_US_2023_03_01:54954004
  • NCI:C61273
  • MESH:D054880
  • GARD:5854
  • UMLS_CUI:C0268225
  • ICD10CM:E77.1
  • MIM:208400
Subsets

DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has exact match

MESH:D054880

has obo namespace

disease_ontology

id

DOID:0050461