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Metadata
ID DOID:12799
Name mucopolysaccharidosis II
Definition A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
http://en.wikipedia.org/wiki/Hunter_syndrome
Xrefs

GARD:6675

ICD10CM:E76.1

MESH:D016532

NCI:C61260

OMIM:309900

SNOMEDCT_US_2023_03_01:190936000

UMLS_CUI:C0026705

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

deficiency of iduronate-2-sulphatase [EXACT]

Hunter syndrome [EXACT]

Hunter's syndrome [EXACT]

MPS II - Hunter syndrome [EXACT]

Mucopolysaccharidosis, MPS-II [EXACT]

Parent Relationships

is_a mucopolysaccharidosis

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