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mucopolysaccharidosis type 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0010674

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 ]

Synonyms: MPS 2 MPS II iduronate 2-sulfatase deficiency mucopolysaccharidosis, type 2 MPS2 attenuated MPS (subtype; formerly known as mild MPS II) mucopolysaccharidosis type 2 deficiency of iduronate-2-sulphatase Hunter's syndrome IDS deficiency mucopolysaccharidosis with skin involvement sulfoiduronate sulfatase deficiency MPS II - Hunter syndrome mucopolysaccharidosis type II mucopolysaccharidosis, type II mucopolysaccharidosis II, X-linked recessive Hunter syndrome MPSII mucopolysaccharidosis II mucopolysaccharidosis, MPS-II severe MPS II I2S deficiency MPS with skin involvement SIDS deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:70737009 (MONDO:equivalentTo)
  • NCIT:C61260 (MONDO:equivalentTo)
  • UMLS:C0026705 (Orphanet:580/e)
  • DOID:12799 (MONDO:equivalentTo)
  • GARD:19016 (Orphanet:79388)
  • Orphanet:79388 (MONDO:equivalentTo)
  • GARD:6675 (Orphanet:580)
  • MESH:D016532 (Orphanet:580/e)
  • ICD10CM:E76.1 (Orphanet:580/specific)
  • NORD:1255 (MONDO:NORD)
  • MedDRA:10056889 (Orphanet:580/e)
  • OMIM:309900 (Orphanet:580/e)
  • Orphanet:580 (OMIM:309900)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3787

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/4948

closeMatch

http://identifiers.org/meddra/10056889

exactMatch

http://purl.bioontology.org/ontology/ICD10CM/E76.1

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

http://identifiers.org/snomedct/70737009

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

http://identifiers.org/mesh/D016532

https://omim.org/entry/309900

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

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

http://www.orpha.net/ORDO/Orphanet_79388

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015920

http://purl.obolibrary.org/obo/MONDO_0019706

http://purl.obolibrary.org/obo/MONDO_0016326

http://purl.obolibrary.org/obo/MONDO_0019301

http://purl.obolibrary.org/obo/MONDO_0020158

id

MONDO:0010674

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010674