loading...| Preferred Name |
mucopolysaccharidosis III |
| Synonyms |
naglu deficiency |
| Definitions |
OMIM mapping confirmed by DO. [SN]. A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. |
| ID |
http://purl.obolibrary.org/obo/DOID_12801 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:190936000 ORDO:581 OMIM:252940 UMLS_CUI:C0026706 NCI:C61262 MESH:D009084 |
| definition |
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. |
| has exact synonym |
Mucopolysaccharidosis, MPS-III Sanfilippo's syndrome heparan sulfate sulfatase deficiency N-sulphoglucosamine sulphohydrolase deficiency |
| has_alternative_id |
DOID:14788 DOID:14729 |
| has_narrow_synonym |
naglu deficiency |
| has_obo_namespace |
disease_ontology |
| id |
DOID:12801 |
| in_subset | |
| label |
mucopolysaccharidosis III |
| notation |
DOID:12801 |
| prefLabel |
mucopolysaccharidosis III |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D009084 | Medical Subject Headings | LOOM |