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mucopolysaccharidosis type 6

Go to external page http://purl.obolibrary.org/obo/MONDO_0009661

Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. [ Orphanet:583 ]

Synonyms: MPSVI MPS6 Maroteaux - Lamy syndrome mucopolysaccharidosis type 6 deficiency of N-acetylgalactosamine-4-sulfatase ARSB deficiency ASB deficiency mucopolysaccharidosis type VI (Maroteaux-Lamy) arylsulfatase B deficiency Maroteaux-Lamy disease mucopolysaccharidosis type VI Maroteaux-Lamy syndrome MPS VI - Maroteaux-Lamy syndrome N-acetylgalactosamine 4-sulfatase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:583 (OMIM:253200)
  • NCIT:C61264 (MONDO:equivalentTo)
  • OMIM:253200 (Orphanet:583/e)
  • SCTID:69463008 (MONDO:equivalentTo)
  • MESH:D009087 (Orphanet:583/e)
  • MedDRA:10056892 (Orphanet:583/e)
  • DOID:12800 (MONDO:equivalentTo)
  • GARD:7095 (Orphanet:583)
  • NORD:1405 (MONDO:NORD)
  • UMLS:C0026709 (Orphanet:583/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

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

closeMatch

http://identifiers.org/meddra/10056892

exactMatch

http://identifiers.org/mesh/D009087

https://omim.org/entry/253200

http://identifiers.org/snomedct/69463008

http://linkedlifedata.com/resource/umls/id/C0026709

http://purl.obolibrary.org/obo/DOID_12800

http://www.orpha.net/ORDO/Orphanet_583

http://purl.obolibrary.org/obo/NCIT_C61264

has related synonym

MPS VI

Arsb deficiency

MPS 6

Mucopoly-saccharidosis type VI

mucopolysaccharidosis VI

Maroteaux Lamy syndrome

N-acetylgalactosamine-4-sulfatase deficiency

id

MONDO:0009661

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009661