loading...| Preferred Name |
Sly syndrome |
|
| Synonyms |
MPS VII - Sly syndrome |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_12803 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:43916004 MESH:D016538 OMIM:253220 ICD10CM:E76.29 UMLS_CUI:C0085132 NCI:C84903 |
|
| definition |
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
|
| has exact synonym |
MPS VII - Sly syndrome beta-glucuronidase deficiency mucopolysaccharidosis VII deficiency of beta-glucuronidase |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:12803 |
|
| in_subset | ||
| label |
Sly syndrome |
|
| notation |
DOID:12803 |
|
| prefLabel |
Sly syndrome |
|
| subClassOf |