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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:mucinoses
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Accession:DOID:3141 term browser browse the term
Definition:Mucoid states characterized by the elevated deposition and accumulation of mucin (mucopolysaccharides) in dermal tissue. The fibroblasts are responsible for the production of acid mucopolysaccharides (GLYCOSAMINOGLYCANS) in the ground substance of the connective tissue system. When fibroblasts produce abnormally large quantities of mucopolysaccharides as hyaluronic acid, chondroitin sulfate, or heparin, they accumulate in large amounts in the dermis.
Synonyms:exact_synonym: Mucinosis
 primary_id: MESH:D017520;   RDO:0004805
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
mucopolysaccharidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsg arylsulfatase G ISS OMIM:252700 MouseDO NCBI chr10:97,722,550...97,859,975
Ensembl chr10:97,771,264...97,863,311
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:17033958 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:25741868 PMID:27827379 PMID:28492532 PMID:31536183 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Hyal1 hyaluronidase 1 ISO mucopolysaccharidosis IX, OMIM:601492 RGD PMID:10339581 RGD:1599811 NCBI chr 8:116,332,834...116,337,522
Ensembl chr 8:116,332,796...116,335,435
JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071 PMID:28492532 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:8650226 PMID:9443875 PMID:9832037 PMID:9950362 PMID:10094189 PMID:11068184 PMID:18218046 PMID:20040070 PMID:20852935 PMID:21204211 PMID:21712855 PMID:22976768 PMID:23084433 PMID:23667853 PMID:25256447 PMID:25520920 PMID:25741868 PMID:26907177 PMID:27590925 PMID:28306536 PMID:28492532 PMID:28836185 PMID:29661560 PMID:29979746 PMID:31413257 PMID:31536183 PMID:217121855 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:11182930 PMID:11343308 PMID:12490062 PMID:12687673 PMID:15146460 PMID:15542396 PMID:17938166 PMID:18407553 PMID:21061399 PMID:21204211 PMID:21671382 PMID:21910976 PMID:22976768 PMID:22976788 PMID:23385295 PMID:24314109 PMID:24816101 PMID:25741868 PMID:25851924 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27896117 PMID:28492532 PMID:28844463 PMID:28921412 PMID:29023963 PMID:30311386 PMID:30809705 PMID:31536183 PMID:32581362 NCBI chr10:108,469,312...108,479,094 JBrowse link
mucopolysaccharidosis I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase treatment ISO DNA:nonsense mutation:CDS:p.W402X (human)
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency
ClinVar Annotator: match by term: Mucopolysaccharidosis type I
ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S
DNA:missense mutations, nonsense mutation: :multiple
DNA:missense mutation, nonsense mutation: :p.P533R, p.Q10X (human)
DNA:mutations:exon, intron:multiple
DNA:insertion/deletion, missense mutations, nonsense mutation: :multiple
DNA:splice-site mutations:intron:c.792+1G>T, c.1190-1G>A (human)
DNA:insertion, missense mutation: :704_705CTGCT, p.R89Q (human)
DNA:nonsense mutation: :p.W392X (mouse)
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by OMIM:607014
ClinVar Annotator: match by OMIM:607015
ClinVar
CTD
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:1627351 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8318992 PMID:8328452 PMID:8401515 PMID:8554071 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10607946 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:11903343 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14516901 PMID:14559116 PMID:15081804 PMID:15194053 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16435195 PMID:16435211 PMID:16438163 PMID:17407067 PMID:17570076 PMID:17606547 PMID:18796143 PMID:19309154 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20026495 PMID:20301341 PMID:21176924 PMID:21253827 PMID:21393040 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21624210 PMID:21639919 PMID:21734815 PMID:21831683 PMID:21963080 PMID:22074387 PMID:22306676 PMID:22822036 PMID:22976768 PMID:23084433 PMID:23465405 PMID:23786846 PMID:23837464 PMID:23959878 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24781210 PMID:24798265 PMID:24875751 PMID:25256405 PMID:25525159 PMID:25557439 PMID:25614311 PMID:25741868 PMID:27146977 PMID:27196898 PMID:27238910 PMID:27511503 PMID:27520059 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28302345 PMID:28492532 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29143201 PMID:29282708 PMID:29393969 PMID:29620724 PMID:29705972 PMID:29801497 PMID:29843745 PMID:30442156 PMID:30809705 PMID:30903511 PMID:31133280 PMID:31194252, PMID:1301196, PMID:7951228, PMID:1301941, PMID:27146977, PMID:15128896, PMID:15126990, PMID:17920451, PMID:18523448, PMID:16435195, PMID:9097952, PMID:24100243, PMID:21734815, PMID:21667973, PMID:8664897, PMID:25597593, PMID:12948739, PMID:19751987, PMID:17407189, PMID:15194053 RGD:1599894, 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 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency
ClinVar Annotator: match by term: Mucopolysaccharidosis type I
ClinVar PMID:1301941 PMID:1505961 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8401515 PMID:8664897 PMID:8680403 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14559116 PMID:15300847 PMID:15862278 PMID:16438163 PMID:17407067 PMID:18796143 PMID:19396826 PMID:19839758 PMID:21176924 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22306676 PMID:22976768 PMID:23465405 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:24781210 PMID:25256405 PMID:25557439 PMID:25741868 PMID:27146977 PMID:27238910 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28492532 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29143201 PMID:29393969 PMID:29843745 NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
JBrowse link
mucopolysaccharidosis Ih term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome
ClinVar Annotator: match by term: Dysostosis multiplex
OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8019572 PMID:8213840 PMID:8318992 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8554071 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10607946 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:11903343 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14516901 PMID:14559116 PMID:15081804 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16188808 PMID:16435195 PMID:16435211 PMID:16438163 PMID:17570076 PMID:17606547 PMID:18463126 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20301341 PMID:21253827 PMID:21393040 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21624210 PMID:21639919 PMID:21734815 PMID:21831683 PMID:21963080 PMID:22074387 PMID:22976768 PMID:23084433 PMID:23210910 PMID:23430803 PMID:23465405 PMID:23786846 PMID:23837464 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24798265 PMID:24875751 PMID:25098213 PMID:25256405 PMID:25525159 PMID:25557439 PMID:25558755 PMID:25614311 PMID:25741868 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27238910 PMID:27392569 PMID:27511503 PMID:27520059 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28302345 PMID:28492532 PMID:28676128 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29143201 PMID:29393969 PMID:29620724 PMID:29801497 PMID:29843745 PMID:30442156 PMID:30809705 PMID:30903511 PMID:31133280 PMID:31194252 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: Dysostosis multiplex ClinVar PMID:25741868 NCBI chr17:8,873,184...8,884,428
Ensembl chr17:8,878,270...8,884,423
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Dysostosis multiplex
ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome
ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8664897 PMID:8680403 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12203999 PMID:14559116 PMID:15300847 PMID:15862278 PMID:16438163 PMID:18796143 PMID:19396826 PMID:19839758 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23430803 PMID:23465405 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24314423 PMID:24368159 PMID:24798265 PMID:25256405 PMID:25557439 PMID:25741868 PMID:27146977 PMID:27238910 PMID:27511503 PMID:27843123 PMID:27939258 PMID:28492532 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29393969 PMID:29843745 NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
JBrowse link
mucopolysaccharidosis Ih/s term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S
OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:4221470 PMID:7550232 PMID:7951228 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12509712 PMID:14559116 PMID:15521993 PMID:15862278 PMID:16435195 PMID:16435211 PMID:17570076 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:20301341 PMID:21394825 PMID:21480867 PMID:21521498 PMID:21624210 PMID:21639919 PMID:21734815 PMID:21831683 PMID:22074387 PMID:22976768 PMID:23084433 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24798265 PMID:25741868 PMID:27146977 PMID:27196898 PMID:27511503 PMID:27520059 PMID:28492532 PMID:28752568 PMID:29393969 PMID:29801497 PMID:30809705 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S
ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8213840 PMID:8401515 PMID:8664897 PMID:8680403 PMID:9427149 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:14559116 PMID:15862278 PMID:18796143 PMID:19396826 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24314423 PMID:24368159 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29393969 NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
JBrowse link
mucopolysaccharidosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II
ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form
ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form
ClinVar Annotator: match by term: SULFOIDURONATE SULFATASE DEFICIENCY
ClinVar Annotator: match by term: SIDS deficiency
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:309900
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM
ClinVar
OMIM
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 PMID:1906048 PMID:7581397 PMID:7728156 PMID:7814022 PMID:7866405 PMID:7887413 PMID:8111411 PMID:8318991 PMID:8364592 PMID:8664909 PMID:8829647 PMID:8829661 PMID:8830188 PMID:8940265 PMID:9222763 PMID:9266380 PMID:9375851 PMID:9501270 PMID:9573369 PMID:9660053 PMID:9875019 PMID:9921913 PMID:9950361 PMID:10215411 PMID:10220152 PMID:10814710 PMID:10838181 PMID:11683780 PMID:11731225 PMID:14728992 PMID:15614569 PMID:16133661 PMID:16480701 PMID:17063374 PMID:17091340 PMID:17284421 PMID:17343270 PMID:17391447 PMID:18414213 PMID:18500569 PMID:20104590 PMID:20301451 PMID:21291454 PMID:21639919 PMID:21829674 PMID:22190500 PMID:22492741 PMID:22912587 PMID:22976768 PMID:22990955 PMID:24125893 PMID:24268528 PMID:24515576 PMID:24780617 PMID:25681085 PMID:25741868 PMID:26407519 PMID:26693516 PMID:26752647 PMID:26762690 PMID:27146977 PMID:27246110 PMID:27351199 PMID:27883178 PMID:27896113 PMID:28077157 PMID:28492532 PMID:28543354 PMID:29801497 PMID:30639582 PMID:30809705, PMID:1550586, PMID:27146977 RGD:1599819, RGD:12910721 NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618
JBrowse link
mucopolysaccharidosis III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase susceptibility ISO DNA:nonsense mutation, splice-site mutation, missense mutations:multiple RGD PMID:11153910 RGD:1642057 NCBI chr10:88,992,413...88,996,677
Ensembl chr10:88,992,487...88,996,676
JBrowse link
G Gns glucosamine (N-acetyl)-6-sulfatase ISO mucopolysaccharidosis type IIID (OMIM:252940)
ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3391615, PMID:12573255 RGD:1599248 NCBI chr 7:63,467,027...63,501,054
Ensembl chr 7:63,467,216...63,499,353
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 PMID:18518886 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:23301227 PMID:24767253 PMID:25491247 PMID:25525159 PMID:25741868 PMID:25859010 PMID:26287674 PMID:28492532 PMID:30311386 PMID:31228227 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Sanfilippo syndrome
ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:252920
human protein in mouse model
protein:decreased activity:skin fibroblast, liver (human)
ClinVar
CTD
PMID:9950362 PMID:10094189 PMID:14984474 PMID:15300983 PMID:15933803 PMID:18218046 PMID:20852935 PMID:21204211 PMID:21937992 PMID:23380547 PMID:23430803 PMID:25741868 PMID:28492532 PMID:28751108, PMID:11668611, PMID:11136549, PMID:10588735, PMID:4261742 RGD:7241018, RGD:7241016, RGD:7241013, RGD:7241012 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by OMIM:252900
ClinVar Annotator: match by term: Sanfilippo syndrome
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:10727844 PMID:11182930 PMID:11343308 PMID:11668611 PMID:12490062 PMID:12687673 PMID:15146460 PMID:15542396 PMID:17938166 PMID:18407553 PMID:21061399 PMID:21204211 PMID:21671382 PMID:22976768 PMID:22976788 PMID:23385295 PMID:24314109 PMID:24816101 PMID:24875751 PMID:25741868 PMID:25851924 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27896117 PMID:28492532 PMID:28844463 PMID:28921412 PMID:29023963 PMID:30311386 PMID:30809705 PMID:31536183 PMID:32581362 NCBI chr10:108,469,312...108,479,094 JBrowse link
G Slc26a11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar NCBI chr10:108,479,105...108,504,188
Ensembl chr10:108,480,368...108,503,706
JBrowse link
mucopolysaccharidosis IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV ClinVar PMID:25741868 PMID:28492532 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by OMIM:253000
ClinVar Annotator: match by term: Morquio syndrome
ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A
ClinVar Annotator: match by term: Mucopolysaccharidosis Type IVA
ClinVar
CTD
PMID:7668283 PMID:7741581 PMID:7795586 PMID:8829629 PMID:9189888 PMID:9298823 PMID:9385378 PMID:9401012 PMID:9521421 PMID:10814710 PMID:12721840 PMID:12728175 PMID:15235041 PMID:15309681 PMID:16287098 PMID:16539564 PMID:16837223 PMID:17347914 PMID:17876718 PMID:21506915 PMID:22358740 PMID:22521955 PMID:22543891 PMID:22940367 PMID:22976768 PMID:23227063 PMID:23371450 PMID:23385297 PMID:23876334 PMID:24033266 PMID:24120057 PMID:24726177 PMID:24773188 PMID:25137622 PMID:25252036 PMID:25287660 PMID:25433535 PMID:25501214 PMID:25545067 PMID:25741868 PMID:25897204 PMID:26147980 PMID:27774754 PMID:28428354 PMID:28492532 PMID:28844463 PMID:29275451 PMID:29731656 PMID:30458289 PMID:30980944 NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
G Glb1 galactosidase, beta 1 ISO Morquio disease type B
ClinVar Annotator: match by term: Mucopolysaccharidosis type IV B
CTD Direct Evidence: marker/mechanism
DNA:mutation:998 A > G (p.Y333C)(human)
ClinVar
CTD
PMID:1928092 PMID:7586649, PMID:11511921, PMID:19091613 RGD:1598984, RGD:12910454 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IV B ClinVar NCBI chr 8:122,439,679...122,447,208 JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
mucopolysaccharidosis IVA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25741868 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar
PMID:1522213 PMID:7581409 PMID:7633425 PMID:7668283 PMID:7741581 PMID:7795586 PMID:7987329 PMID:8829629 PMID:9189888 PMID:9298823 PMID:9375852 PMID:9385378 PMID:9401012 PMID:9521421 PMID:9660054 PMID:10479485 PMID:10814710 PMID:12442278 PMID:12721840 PMID:12728175 PMID:15235041 PMID:15241807 PMID:15309681 PMID:15689448 PMID:16287098 PMID:16378744 PMID:16539564 PMID:16837223 PMID:17347914 PMID:17876718 PMID:20574428 PMID:21506915 PMID:21943391 PMID:22358740 PMID:22521955 PMID:22543891 PMID:22940367 PMID:22976768 PMID:23227063 PMID:23371450 PMID:23385297 PMID:23401410 PMID:23876334 PMID:24033266 PMID:24035930 PMID:24120057 PMID:24411403 PMID:24726177 PMID:25137622 PMID:25252036 PMID:25287660 PMID:25364648 PMID:25433535 PMID:25501214 PMID:25545067 PMID:25741868 PMID:25897204 PMID:26147980 PMID:26276046 PMID:27331011 PMID:27774754 PMID:27825773 PMID:28428354 PMID:28492532 PMID:28844463 PMID:29275451 PMID:29731656 PMID:30094185 PMID:30311386 PMID:30797135 PMID:30980944 PMID:32860008 NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
G Trappc2l trafficking protein particle complex 2-like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:8829629 PMID:9375852 PMID:10479485 PMID:12442278 PMID:15689448 PMID:16287098 PMID:21943391 PMID:24726177 PMID:25252036 PMID:25741868 PMID:27825773 PMID:28492532 NCBI chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036
JBrowse link
mucopolysaccharidosis IX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: HYALURONIDASE DEFICIENCY
ClinVar Annotator: match by OMIM:601492
OMIM
ClinVar
PMID:8793927 PMID:10339581 PMID:27424109 PMID:28492532 NCBI chr 8:116,332,834...116,337,522
Ensembl chr 8:116,332,796...116,335,435
JBrowse link
mucopolysaccharidosis type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:16465621 PMID:19617216 PMID:19938078 PMID:20301728 PMID:23192343 PMID:24045841 PMID:24550498 PMID:25505245 PMID:25741868 PMID:28492532 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar
OMIM
PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479 PMID:10521831 PMID:10601282 PMID:10727844 PMID:11182930 PMID:11343308 PMID:11668611 PMID:11903343 PMID:12000360 PMID:12438493 PMID:12490062 PMID:12687673 PMID:12702166 PMID:15146460 PMID:15542396 PMID:15637719 PMID:16174644 PMID:17128482 PMID:17938166 PMID:18407553 PMID:19099774 PMID:19383612 PMID:21061399 PMID:21204211 PMID:21228398 PMID:21393040 PMID:21455105 PMID:21671382 PMID:21910976 PMID:21963080 PMID:22002444 PMID:22976768 PMID:22976788 PMID:23084433 PMID:23385295 PMID:24314109 PMID:24347096 PMID:24576347 PMID:24816101 PMID:24875751 PMID:25113300 PMID:25557439 PMID:25741868 PMID:25807448 PMID:25851924 PMID:26075876 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27590925 PMID:27896117 PMID:28492532 PMID:28844463 PMID:28921412 PMID:29023963 PMID:30311386 PMID:30593151 PMID:30809705 PMID:31536183 PMID:32214227 PMID:32581362 NCBI chr10:108,469,312...108,479,094 JBrowse link
G Slc26a11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:21204211 PMID:21910976 PMID:22976768 PMID:24816101 PMID:25741868 PMID:28492532 NCBI chr10:108,479,105...108,504,188
Ensembl chr10:108,480,368...108,503,706
JBrowse link
mucopolysaccharidosis type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B
ClinVar Annotator: match by term: Sanfilippo syndrome B
ClinVar
OMIM
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 PMID:10094189 PMID:11068184 PMID:11153910 PMID:11286389 PMID:11668611 PMID:11836372 PMID:12202988 PMID:14984474 PMID:15300983 PMID:15933803 PMID:16151907 PMID:16447797 PMID:18218046 PMID:19046346 PMID:20040070 PMID:20852935 PMID:21204211 PMID:21685203 PMID:21712855 PMID:21910976 PMID:21937992 PMID:22002444 PMID:22976768 PMID:23084433 PMID:23100014 PMID:23380547 PMID:23430803 PMID:23661660 PMID:23667853 PMID:23840811 PMID:24314109 PMID:25256447 PMID:25466957 PMID:25520920 PMID:25525159 PMID:25741868 PMID:25818867 PMID:26075876 PMID:26907177 PMID:27590925 PMID:28018442 PMID:28306536 PMID:28492532 PMID:28751108 PMID:28836185 PMID:28844463 PMID:29661560 PMID:29881562 PMID:29979746 PMID:30070758 PMID:30809705 PMID:31319225 PMID:31413257 PMID:31536183 PMID:217121855 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867
JBrowse link
mucopolysaccharidosis type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
OMIM
ClinVar
PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 PMID:18518886 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:23301227 PMID:24767253 PMID:25326635 PMID:25491247 PMID:25525159 PMID:25741868 PMID:25859010 PMID:26287674 PMID:27733599 PMID:27827379 PMID:28041643 PMID:28492532 PMID:28981474 PMID:30311386 PMID:30809705 PMID:31228227 PMID:31536183 NCBI chr16:70,876,557...70,909,443 JBrowse link
G LOC108348042 ankyrin repeat domain-containing protein 7-like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr17:89,772,614...89,781,812
Ensembl chr17:89,772,928...89,780,691
JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC ClinVar PMID:28492532 NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link
mucopolysaccharidosis type IIID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gns glucosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIID
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D
ClinVar
OMIM
PMID:3100754 PMID:6450420 PMID:12573255 PMID:12624138 PMID:16990043 PMID:17998446 PMID:19650410 PMID:20232353 PMID:25741868 PMID:28492532 PMID:30809705 NCBI chr 7:63,467,027...63,501,054
Ensembl chr 7:63,467,216...63,499,353
JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIID ClinVar PMID:25741868 NCBI chr 6:135,228,755...135,259,645
Ensembl chr 6:135,228,803...135,259,603
JBrowse link
mucopolysaccharidosis type IVB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B OMIM
ClinVar
PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:6791574 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:12393180 PMID:12644936 PMID:15365997 PMID:15714521 PMID:15943552 PMID:15986423 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17664528 PMID:18524657 PMID:18546276 PMID:18571950 PMID:19472408 PMID:20175788 PMID:20409738 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22353294 PMID:22371915 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:23831247 PMID:24033266 PMID:24156116 PMID:24777551 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26766614 PMID:26990548 PMID:27679996 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29396849 PMID:29439846 PMID:29451896 PMID:30267299 PMID:30311386 PMID:30548430 PMID:30555092 PMID:30675867 PMID:30809705 PMID:31761138 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B ClinVar PMID:8198123 PMID:8199591 PMID:16941474 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 NCBI chr 8:122,439,679...122,447,208 JBrowse link
mucopolysaccharidosis VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 IEP protein:increased expression:intervertebral disk RGD PMID:23192728 RGD:10043113 NCBI chr11:25,411,174...25,456,639
Ensembl chr11:25,410,975...25,456,836
JBrowse link
G Arsb arylsulfatase B susceptibility
treatment
IAGP
ISO
IMP
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6
ClinVar Annotator: match by term: Mucopolysaccharidosis type VI
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate
DNA:mutation:cds:507InsC(rat)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:253200
ClinVar
CTD
OMIM
PMID:1301949 PMID:1550123 PMID:1718978 PMID:7733883 PMID:8116615 PMID:8125475 PMID:8144552 PMID:8541342 PMID:8651289 PMID:8723688 PMID:8752530 PMID:10036316 PMID:10206678 PMID:10738004 PMID:10923267 PMID:11668612 PMID:11802522 PMID:11939792 PMID:14974081 PMID:15603718 PMID:16435196 PMID:16949067 PMID:17161971 PMID:17458871 PMID:17643332 PMID:17672828 PMID:18406185 PMID:18486607 PMID:19259130 PMID:19968667 PMID:20143913 PMID:21514195 PMID:21791831 PMID:21791832 PMID:21813902 PMID:21917494 PMID:21930407 PMID:21996138 PMID:22133300 PMID:22441840 PMID:22976768 PMID:23023219 PMID:23430861 PMID:23458163 PMID:23557332 PMID:23633437 PMID:23657977 PMID:23855929 PMID:23949968 PMID:24033266 PMID:24053568 PMID:24107440 PMID:24221504 PMID:24243352 PMID:24262793 PMID:24373060 PMID:24677745 PMID:24767253 PMID:24798265 PMID:24875751 PMID:25190157 PMID:25654180 PMID:25741868 PMID:25797215 PMID:26609033 PMID:26909334 PMID:26910003 PMID:26937411 PMID:27797586 PMID:27826022 PMID:28492532 PMID:28552677 PMID:28649537 PMID:28858097 PMID:28884960 PMID:28914427 PMID:30118150 PMID:30524696 PMID:30982216 PMID:32860008, PMID:8575749, PMID:21887218, PMID:1550123, PMID:8575749 RGD:631738, RGD:39131283, RGD:1599228, RGD:631738 NCBI chr 2:23,385,154...23,543,028
Ensembl chr 2:23,385,183...23,544,963
JBrowse link
G ArsbMPR arylsulfatase B; MPR mutant IAGP RGD PMID:8575749 RGD:631738
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type VI
ClinVar Annotator: match by term: Maroteaux Lamy syndrome
ClinVar PMID:7573038 PMID:8089138 PMID:8644704 PMID:9490302 PMID:9921904 PMID:12403825 PMID:12859417 PMID:19224584 PMID:25741868 PMID:26908836 PMID:28492532 PMID:30413728 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
Mucopolysaccharidosis-Plus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome ClinVar
OMIM
PMID:27547915 PMID:28013294 NCBI chr12:38,459,816...38,482,903
Ensembl chr12:38,459,832...38,484,512
JBrowse link
Scheie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Scheie Syndrome
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V
ClinVar
OMIM
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:7550232 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8318992 PMID:8401515 PMID:8680403 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10607946 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:11903343 PMID:12509712 PMID:16435195 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:20301341 PMID:21394825 PMID:21521498 PMID:21639919 PMID:21831683 PMID:22074387 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24314423 PMID:24368159 PMID:24698225 PMID:24798265 PMID:25741868 PMID:27196898 PMID:27511503 PMID:28492532 PMID:28752568 PMID:29393969 PMID:30809705 PMID:31319225 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:8680403 PMID:9427149 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:18796143 PMID:19396826 PMID:21394825 PMID:21831683 PMID:22976768 PMID:23786846 PMID:24033266 PMID:24314423 PMID:24368159 PMID:25741868 PMID:28492532 PMID:28752568 PMID:29393969 NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
JBrowse link
Sly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Sly syndrome
ClinVar Annotator: match by term: Mucopolysaccharidosis type VII
ClinVar Annotator: match by OMIM:253220
OMIM
ClinVar
PMID:144057 PMID:1702266 PMID:1833732 PMID:1992472 PMID:6811712 PMID:7573038 PMID:7633414 PMID:7633417 PMID:7680524 PMID:8089138 PMID:8111412 PMID:8111413 PMID:8644704 PMID:9099834 PMID:9490302 PMID:9921904 PMID:11226217 PMID:12403825 PMID:12522561 PMID:12859417 PMID:19224584 PMID:21504867 PMID:23777470 PMID:24033266 PMID:24260279 PMID:25741868 PMID:26036949 PMID:26908836 PMID:28492532 PMID:29620724 PMID:30311386 PMID:30413728 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Skin and Connective Tissue Diseases 5478
        connective tissue disease 4105
          mucinoses 31
            Ganglion Cysts 0
            Scleromyxedema 0
            follicular mucinosis 0
            mucopolysaccharidosis + 31
            myxedema 0
            scleredema adultorum 0
paths to the root