| General Information | |||
|---|---|---|---|
| Term | mucopolysaccharidosis type VII | ID (Ontology) | DOID:12803 (Human Disease) |
| Definition | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. | ||
| Also Known As | "beta-glucuronidase deficiency" ; "deficiency of beta-glucuronidase" ; "MPS VII - Sly syndrome" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
||||||
lysosomal storage disease |__mucopolysaccharidosis |__mucopolysaccharidosis type VII 4 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | mucopolysaccharidosis | ||
| Part of | |||
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
External Crossreferences & Linkouts
|
|||
|
ICD10CM:E76.29 MESH:D016538 MIM:253220 NCI:C84903 SNOMEDCT_US_2023_03_01:43916004 UMLS_CUI:C0085132 |
|||