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Standards Ontologies Notations
mucopolysaccharidosis VI

Summary
Synonym
  • MPS VI - Maroteaux-Lamy syndrome
  • Maroteaux - Lamy syndrome
  • Maroteaux-Lamy syndrome
  • arylsulfatase B deficiency
  • deficiency of N-acetylgalactosamine-4-sulfatase
Definition
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
Super Class
mucopolysaccharidosis
External Links
Disease Ontology
DOID:12800
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
411 ARSB arylsulfatase B
7124 TNF tumor necrosis factor
8600 TNFSF11 TNF superfamily member 11
11096 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5
Displaying all 4 entries
Gene ID Gene Symbol Description Source
11881 Arsb arylsulfatase B
21926 Tnf tumor necrosis factor
21943 Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11
23794 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5
Displaying all 4 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
25227 Arsb arylsulfatase B
117516 Tnfsf11 TNF superfamily member 11
304135 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100488158 adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 63 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000158 Macroglossia
HP:0000238 Hydrocephalus
HP:0000256 Macrocephaly
HP:0000268 Dolichocephaly
HP:0000280 Coarse facial features
HP:0000365 Hearing impairment
HP:0000501 Glaucoma
HP:0000670 Carious teeth
Displaying 1 entry
Gene ID Gene Symbol Description
411 ARSB arylsulfatase B
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024