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mucopolysaccharidosis III

^ http://purl.obolibrary.org/obo/DOID_12801


A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. [ url:http://en.wikipedia.org/wiki/Sanfilippo_syndrome ]

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

Term info

database cross reference
  • MESH:D009084
  • NCI:C84898
  • NCI:C61262
  • SNOMEDCT_US_2018_03_01:41572006
  • UMLS_CUI:C0086648
  • ORDO:581
  • ICD10CM:E76.22
  • SNOMEDCT_US_2018_03_01:88393000
  • OMIM:252940
  • OMIM:252920
  • NCI:C84897
  • UMLS_CUI:C0026706
  • MTHICD9_2006:277.5
  • OMIM:252930
  • UMLS_CUI:C0086647
  • SNOMEDCT_US_2018_03_01:59990008
  • OMIM:252900
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has alternative id

DOID:14788, DOID:14729

has narrow synonym

mucopolysaccharidosis type IIIA, MPS IIIB - Sanfilippo syndrome B, mucopolysaccharidosis type IIIB, MPS IIIA - Sanfilippo syndrome A, MPS IIID - Sanfilippo syndrome D, Mucopolysaccharidosis, MPS-III-B, MPS IIIC - Sanfilippo syndrome C, Sanfilippo syndrome A, naglu deficiency, N-acetyl-alpha-D-glucosaminidase deficiency, Sanfilippo syndrome B

has obo namespace

disease_ontology

id

DOID:12801

Term relations

Subclass of: