ONTOLOGY REPORT - ANNOTATIONS


Term:mucopolysaccharidosis
go back to main search page
Accession:DOID:12798 term browser browse the term
Definition:Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Synonyms:exact_synonym: mucopolysaccharidoses
 related_synonym: IDUA pseudodeficiency
 primary_id: MESH:D009083
 alt_id: RDO:0006012
 xref: GARD:7065;   OMIM:PS607014;   ORDO:79213
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
mucopolysaccharidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsg arylsulfatase G JBrowse link 10 97,722,550 97,859,975 RGD:13592920
G Hyal1 hyaluronidase 1 JBrowse link 8 116,332,834 116,337,522 RGD:1599811
G Idua iduronidase, alpha-L- JBrowse link 14 2,041,828 2,056,762 RGD:8554872
mucopolysaccharidosis I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idua iduronidase, alpha-L- JBrowse link 14 2,041,828 2,056,762 RGD:1599894
RGD:8554872
RGD:11069860
RGD:11068482
RGD:12910721
RGD:12910720
RGD:12910719
RGD:12910718
RGD:12910716
RGD:12910516
RGD:12910513
RGD:12910510
RGD:12910509
RGD:12910508
RGD:12910504
RGD:12910503
RGD:12910502
RGD:12910501
RGD:12910499
RGD:12910497
RGD:11554173
RGD:7240710
G Slc26a1 solute carrier family 26 member 1 JBrowse link 14 2,050,805 2,056,091 RGD:8554872
mucopolysaccharidosis II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ids iduronate 2-sulfatase JBrowse link 8 69,447,971 69,466,708 RGD:1599819
RGD:8554872
RGD:12910721
RGD:7240710
mucopolysaccharidosis III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coasy Coenzyme A synthase JBrowse link 10 88,992,413 88,996,677 RGD:1642057
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
G Gns glucosamine (N-acetyl)-6-sulfatase JBrowse link 7 63,467,027 63,501,054 RGD:1599248
RGD:8554872
RGD:11554173
RGD:7240710
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 16 70,876,557 70,909,443 RGD:7240710
RGD:8554872
G Mok MOK protein kinase JBrowse link 6 135,228,755 135,259,645 RGD:8554872
G Naglu N-acetyl-alpha-glucosaminidase JBrowse link 10 88,979,363 88,986,879 RGD:7241018
RGD:8554872
RGD:7241016
RGD:7241013
RGD:7241012
RGD:7240710
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:8554872
G Sgsh N-sulfoglucosamine sulfohydrolase JBrowse link 10 108,469,312 108,479,094 RGD:7240710
RGD:8554872
G Slc26a11 solute carrier family 26 member 11 JBrowse link 10 108,479,105 108,504,188 RGD:8554872
mucopolysaccharidosis IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aprt adenine phosphoribosyl transferase JBrowse link 19 55,387,288 55,389,256 RGD:8554872
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:7247741
G Galns galactosamine (N-acetyl)-6-sulfatase JBrowse link 19 55,391,004 55,423,328 RGD:7240710
RGD:8554872
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:1598984
RGD:8554872
RGD:7240710
RGD:11554173
RGD:12910454
G Trappc2l trafficking protein particle complex 2-like JBrowse link 19 55,423,350 55,428,551 RGD:8554872
mucopolysaccharidosis IX term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyal1 hyaluronidase 1 JBrowse link 8 116,332,834 116,337,522 RGD:7240710
RGD:8554872
mucopolysaccharidosis VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 JBrowse link 11 25,411,174 25,456,639 RGD:10043113
G Arsb arylsulfatase B JBrowse link 2 23,385,154 23,543,028 RGD:631738
RGD:8554872
RGD:1599228
RGD:11554173
RGD:7240710
G ArsbMPR arylsulfatase B; MPR mutant RGD:631738
G Gusb glucuronidase, beta JBrowse link 12 30,202,066 30,215,583 RGD:8554872
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 38,459,816 38,482,903 RGD:8554872
RGD:7240710
Scheie syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idua iduronidase, alpha-L- JBrowse link 14 2,041,828 2,056,762 RGD:8554872
RGD:7240710
G Slc26a1 solute carrier family 26 member 1 JBrowse link 14 2,050,805 2,056,091 RGD:8554872
Sly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gusb glucuronidase, beta JBrowse link 12 30,202,066 30,215,583 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    Nutritional and Metabolic Diseases 4265
      disease of metabolism 4265
        inherited metabolic disorder 1823
          carbohydrate metabolic disorder 304
            mucopolysaccharidosis 25
              MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME 1
              Mucopolysaccharidoses, Unclassified Types 0
              Mucopolysaccharidosis VIII 0
              Sly syndrome 1
              mucopolysaccharidosis I + 2
              mucopolysaccharidosis II 1
              mucopolysaccharidosis III 9
              mucopolysaccharidosis IV + 5
              mucopolysaccharidosis IX 1
              mucopolysaccharidosis VI 5
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          inherited metabolic disorder 1823
            lysosomal storage disease 400
              mucopolysaccharidosis 25
                MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME 1
                Mucopolysaccharidoses, Unclassified Types 0
                Mucopolysaccharidosis VIII 0
                Sly syndrome 1
                mucopolysaccharidosis I + 2
                mucopolysaccharidosis II 1
                mucopolysaccharidosis III 9
                mucopolysaccharidosis IV + 5
                mucopolysaccharidosis IX 1
                mucopolysaccharidosis VI 5
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.