Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. [ Orphanet:580 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E76.1 (Orphanet:580)
  • Orphanet:580 (OMIM:309900)
  • NCIT:C61260 (MONDO:equivalentTo)
  • OMIM:309900 (Orphanet:580)
  • DOID:12799 (MONDO:equivalentTo)
  • GARD:0006675 (Orphanet-shared)
  • MedDRA:10056889 (Orphanet:580)
  • MESH:D016532 (Orphanet:580)
  • UMLS:C0026705 (Orphanet:580)
  • SCTID:70737009 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
MPS2 [ MONDO:Lexical https://omim.org/entry/309900 Orphanet:580 ]

abbreviation
MPSII [ Orphanet:580 ]

closeMatch

http://identifiers.org/snomedct/61413000

http://identifiers.org/snomedct/190936000

definition

Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61260

http://identifiers.org/snomedct/70737009

http://identifiers.org/mesh/D016532

http://linkedlifedata.com/resource/umls/id/C0026705

http://purl.obolibrary.org/obo/DOID_12799

http://www.orpha.net/ORDO/Orphanet_580

http://linkedlifedata.com/resource/umls/id/C2718304

http://identifiers.org/meddra/10056889

http://identifiers.org/omim/309900

has exact synonym

Hunter syndrome

MPSII

iduronate 2-sulfatase deficiency

MPS2

deficiency of iduronate-2-sulphatase

Hunter's syndrome

MPS II - Hunter syndrome

mucopolysaccharidosis, MPS-II

mucopolysaccharidosis type II

has related synonym

MPS 2

MPS II

mucopolysaccharidosis, type 2

mucopolysaccharidosis II

attenuated MPS (subtype; formerly known as mild MPS II)

severe MPS II

sulfoiduronate sulfatase deficiency

Ids deficiency

mucopolysaccharidosis, type II

Sids deficiency

I2S deficiency

id

MONDO:0010674