has material basis in germline mutation in AGA aspartylglucosaminuria https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/aspartylglucosaminuria NANDO:1200133 GARD:0005854 NORD:813 aspartylglycosaminuria AGU Orphanet:93 glycosylasparaginase deficiency MedDRA:10068220 icd11.foundation:2143470200 UMLS:C0268225 NANDO:2200555 NCIT:C61273 aspartylglucosaminuria Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). Aspartylglycosaminuria OMIM:208400 DOID:0050461 MEDGEN:78649 aspartylglucosaminidase deficiency MESH:D054880 MONDO:0008830 Aspartylglucosamidase (AGA) deficiency SCTID:54954004 oligosaccharidosis lysosomal storage disease with skeletal involvement