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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: Alpha-L-Iduronidase deficiency
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
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: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: Gargoylism, Hurler Syndrome
ClinVar Annotator: match by term: 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:31133280 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
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:16287098, PMID:16378744, PMID:16539564, PMID:16837223, PMID:17347914, PMID:17876718, PMID:20574428, PMID:21506915, 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:16287098, 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 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
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 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          mucinoses 29
            Ganglion Cysts 0
            Scleromyxedema 0
            follicular mucinosis 0
            mucopolysaccharidosis + 29
            myxedema 0
            scleredema adultorum 0
paths to the root

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