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mucopolysaccharidosis type 7

Go to external page http://purl.obolibrary.org/obo/MONDO_0009662

Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. [ Orphanet:584 ]

Synonyms: MPS VII - Sly syndrome Sly disease beta-glucuronidase deficiency MPS7 deficiency of beta-glucuronidase MPSVII mucopolysaccharidosis type VII mucopolysaccharidosis VII Sly syndrome mucopolysaccharidosis type 7 Beta-glucuronidase deficiency mucopolysaccharidosis, mps-VII

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:253220 (Orphanet:584/e)
  • Orphanet:584 (OMIM:253220)
  • NORD:1722 (MONDO:NORD)
  • UMLS:C0085132 (Orphanet:584/e)
  • GARD:7096 (Orphanet:584)
  • MESH:D016538 (Orphanet:584/e)
  • MedDRA:10056893 (Orphanet:584/e)
  • NCIT:C84903 (MONDO:equivalentTo)
  • SCTID:43916004 (MONDO:equivalentTo)
  • DOID:12803 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10056893

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84903

https://omim.org/entry/253220

http://purl.obolibrary.org/obo/DOID_12803

http://linkedlifedata.com/resource/umls/id/C0085132

http://identifiers.org/snomedct/43916004

http://identifiers.org/mesh/D016538

http://www.orpha.net/ORDO/Orphanet_584

has related synonym

Gus deficiency

MPS VII

Gusb deficiency

MPS 7

MPS VII - mucopolysaccharidosis VII

mucopolysaccharidosis, type VII

gusb deficiency

mucopolysaccharidosis, type 7

id

MONDO:0009662

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009662