A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. [ http://purl.obolibrary.org/obo/ECO_0007638 ]

Synonyms: Mucopolysaccharidosis, MPS-III N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo's syndrome heparan sulfate sulfatase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • NCI:C61262
  • SNOMEDCT_US_2019_09_01:88393000
  • UMLS_CUI:C0026706
  • OMIM:252940
  • ORDO:581
  • MESH:D009084
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has alternative id

DOID:14788
DOID:14729

has narrow synonym

naglu deficiency

has obo namespace

disease_ontology

id

DOID:12801

Term relations

Subclass of: