Preferred Name |
alpha-mannosidosis |
|
Synonyms |
Alpha-D-mannosidosis |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. |
|
ID |
http://purl.obolibrary.org/obo/DOID_3413 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
MESH:D008363 SNOMEDCT_US_2023_03_01:65524005 UMLS_CUI:C0024748 OMIM:248500 GARD:6968 NCI:C84548 |
|
definition |
A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. |
|
has exact match |
MESH:D008363 |
|
has exact synonym |
Alpha-D-mannosidosis deficiency of alpha-mannosidase alpha-mannosidase deficiency |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:3413 |
|
in_subset | ||
label |
alpha-mannosidosis |
|
notation |
DOID:3413 |
|
prefLabel |
alpha-mannosidosis |
|
subClassOf |