Preferred Name |
aspartylglucosaminuria |
|
Synonyms |
aspartylglycosaminuria |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0050461 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
OMIM:208400 ICD10CM:E77.1 SNOMEDCT_US_2020_03_01:54954004 UMLS_CUI:C0268225 MESH:D054880 GARD:5854 NCI:C61273 |
|
has exact match |
MESH:D054880 |
|
has exact synonym |
aspartylglycosaminuria aspartylglucosaminidase deficiency glycosylasparaginase deficiency |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050461 |
|
imported from | ||
in_subset | ||
label |
aspartylglucosaminuria |
|
notation |
DOID:0050461 |
|
prefLabel |
aspartylglucosaminuria |
|
textual 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. |
|
subClassOf |
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