Preferred Name |
aspartylglucosaminuria |
|
Synonyms |
aspartylglycosaminuria AGU |
|
Definitions |
high urinary levels of aspartylglucosamine, a derivative of aspartic acid; caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) which normally cleaves long sugar chains known as oligosaccharides in the lysosome |
|
ID |
http://purl.obolibrary.org/obo/MP_0011516 |
|
created_by |
csmith |
|
creation_date |
2011-12-08T04:14:45Z |
|
definition |
high urinary levels of aspartylglucosamine, a derivative of aspartic acid; caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) which normally cleaves long sugar chains known as oligosaccharides in the lysosome |
|
has_exact_synonym |
aspartylglycosaminuria AGU |
|
has_obo_namespace |
MPheno.ontology |
|
id |
MP:0011516 |
|
label |
aspartylglucosaminuria |
|
notation |
MP:0011516 |
|
prefLabel |
aspartylglucosaminuria |
|
subClassOf |
Create mapping