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Metadata
ID DOID:12801
Name mucopolysaccharidosis III
Definition A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
http://en.wikipedia.org/wiki/Sanfilippo_syndrome
Xrefs

MESH:D009084

NCI:C61262

OMIM:252940

ORDO:581

SNOMEDCT_US_2023_03_01:190936000

UMLS_CUI:C0026706

Alternateids

DOID:14729

DOID:14788

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

heparan sulfate sulfatase deficiency [EXACT]

Mucopolysaccharidosis, MPS-III [EXACT]

N-sulphoglucosamine sulphohydrolase deficiency [EXACT]

naglu deficiency [NARROW]

Sanfilippo's syndrome [EXACT]

Parent Relationships

is_a mucopolysaccharidosis

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