Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/D009087 http://purl.bioontology.org/ontology/MESH/D009087
Preferred Name	Mucopolysaccharidosis VI
Definitions	Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
Synonyms	Deficiency, N-Acetylgalactosamine-4-Sulfatase N-Acetylgalactosamine-4-Sulfatase Deficiency Maroteaux-Lamy Syndrome Mucopolysaccharidosis 6 ARSB Deficiencies Deficiencies, N-Acetylgalactosamine-4-Sulfatase Polydystrophic Dwarfism Deficiencies, ARSB Deficiency, ARSB Type 6, Mucopolysaccharidosis Mucopolysaccharidosis Type 6 Maroteaux Lamy Syndrome Dwarfism, Polydystrophic ARSB Deficiency Mucopolysaccharidosis Type VI N-Acetylgalactosamine-4-Sulfatase Deficiencies Deficiency, Arylsulfatase B Deficiencies, Arylsulfatase B Syndrome, Maroteaux-Lamy Arylsulfatase B Deficiencies Arylsulfatase B Deficiency Type VI, Mucopolysaccharidosis See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
altLabel	Deficiency, N-Acetylgalactosamine-4-Sulfatase N-Acetylgalactosamine-4-Sulfatase Deficiency Maroteaux-Lamy Syndrome Mucopolysaccharidosis 6 ARSB Deficiencies Deficiencies, N-Acetylgalactosamine-4-Sulfatase Polydystrophic Dwarfism Deficiencies, ARSB Deficiency, ARSB Type 6, Mucopolysaccharidosis Mucopolysaccharidosis Type 6 Maroteaux Lamy Syndrome Dwarfism, Polydystrophic ARSB Deficiency Mucopolysaccharidosis Type VI N-Acetylgalactosamine-4-Sulfatase Deficiencies Deficiency, Arylsulfatase B Deficiencies, Arylsulfatase B Syndrome, Maroteaux-Lamy Arylsulfatase B Deficiencies Arylsulfatase B Deficiency Type VI, Mucopolysaccharidosis See more See less
prefLabel	Mucopolysaccharidosis VI
Machine permutation	92; was MUCOPOLYSACCHARIDOSIS 6 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90
HN	92; was MUCOPOLYSACCHARIDOSIS 6 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90
type	http://www.w3.org/2002/07/owl#Class
tui	T047
TERMUI	T751430 T822995 T819010 T751429 T027163 T027161 T027162 T751431 T027164 See more See less
TH	OMIM (2013) NLM (1975) NLM (1992) UNK (19XX) NLM (2010) GHR (2014) ORD (2010) See more See less
MMR	20130708
notation	D009087
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
DX	19910101
cui	C0026709
DC	1
MN	C17.300.550.575.670 C16.320.565.595.600.670 C18.452.648.595.600.670 C18.452.648.202.715.670 C16.320.565.202.715.670
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
OL	use MUCOPOLYSACCHARIDOSIS VI to search MUCOPOLYSACCHARIDOSIS 6 1975-91
MDA	19990101
subClassOf	http://purl.bioontology.org/ontology/MESH/D009083

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