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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:583 (OMIM:253200)
  • ICD10:E76.2 (Orphanet:583)
  • SCTID:69463008 (MONDO:equivalentTo)
  • UMLS:C0026709 (Orphanet:583)
  • DOID:12800 (MONDO:equivalentTo)
  • OMIM:253200 (Orphanet:583)
  • GARD:0007095 (Orphanet-shared)
  • MESH:D009087 (Orphanet:583)
  • MedDRA:10056892 (Orphanet:583)
  • NCIT:C61264 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
MPS6 [ MONDO:Lexical Orphanet:583 https://omim.org/entry/253200 ]

abbreviation
MPSVI [ Orphanet:583 ]

closeMatch

http://identifiers.org/snomedct/52677002

http://identifiers.org/snomedct/190936000

definition

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.

exactMatch

http://identifiers.org/mesh/D009087

http://identifiers.org/snomedct/69463008

http://identifiers.org/meddra/10056892

http://identifiers.org/omim/253200

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

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

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

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

has exact synonym

MPSVI

ASB deficiency

deficiency of N-acetylgalactosamine-4-sulfatase

MPS6

ARSB deficiency

Maroteaux - Lamy syndrome

arylsulfatase B deficiency

mucopolysaccharidosis type VI

Maroteaux-Lamy syndrome

Maroteaux-Lamy disease

MPS VI - Maroteaux-Lamy syndrome

N-acetylgalactosamine 4-sulfatase deficiency

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