An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

Synonyms: Aspartylglucosaminidase deficiency

This is just here as a test because I lose it

Term information

database cross reference
hasDbXref

OMIM:208400

ICD-10:E77.1

UMLS:C2931840

MeSH:C538402

MedDRA:10068220

MeSH:D054880

UMLS:C0268225

notation

ORPHA:93