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mucopolysaccharidosis type 2, severe form

Go to external page http://purl.obolibrary.org/obo/MONDO_0016315

Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. [ Orphanet:217085 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:217085 (MONDO:equivalentTo)
  • ICD10:E76.1 (Orphanet:217085)
  • UMLS:CN201131 (MONDO:equivalentTo)
  • SCTID:73146005 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

abbreviation
MPS2A [ Orphanet:217085 ]

abbreviation
MPSIIA [ Orphanet:217085 ]

definition

Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

exactMatch

http://www.orpha.net/ORDO/Orphanet_217085

http://identifiers.org/snomedct/73146005

http://linkedlifedata.com/resource/umls/id/CN201131

has exact synonym

MPSIIA

Hunter syndrome type A

iduronate 2-sulfatase deficiency type A

mucopolysaccharidosis type II, severe form

mucopolysaccharidosis type IIA

MPS2A

mucopolysaccharidosis type 2A

id

MONDO:0016315

Term relations