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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:mucopolysaccharidosis III
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Accession:DOID:12801 term browser browse the term
Definition:Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Synonyms:exact_synonym: Heparan Sulfate Sulfatase Deficiency;   Mucopolysaccharidosis 3;   Mucopolysaccharidosis, MPS-III;   N Acetyl alpha D Glucosaminidase Deficiency;   N-acetyl-alpha-D-glucosaminidase deficiencies;   N-sulphoglucosamine sulphohydrolase deficiency;   NAGLU Deficiencies;   NAGLU Deficiency;   Polydystrophic Oligophrenia;   Polydystrophic Oligophrenias;   San Filippo Syndrome;   San Filippo's Syndrome;   San Filippos Syndrome;   Sanfilippo Syndrome;   Sanfilippo syndromes;   Sanfilippo's Syndrome;   Sanfilippos Syndrome;   acetyl CoA:alpha glucosaminide N-acetyltransferase deficiency;   acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiencies;   sulfamidase deficiencies;   sulfamidase deficiency
 primary_id: MESH:D009084
 alt_id: OMIA:001309;   OMIA:001342
 xref: NCI:C61262;   NCI:C84897;   NCI:C84898;   ORDO:581
For additional species annotation, visit the Alliance of Genome Resources.


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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
protein:decreased activity:skin fibroblast, liver (human)
human protein in mouse model
ClinVar Annotator: match by OMIM:252920
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:4261742, PMID:10588735, PMID:11136549 RGD:7241018, RGD:7241012, RGD:7241013, RGD:7241016 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency
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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2232
          carbohydrate metabolic disorder 389
            mucopolysaccharidosis 31
              mucopolysaccharidosis III 11
                mucopolysaccharidosis type IIIA 3
                mucopolysaccharidosis type IIIB 1
                mucopolysaccharidosis type IIIC 4
                mucopolysaccharidosis type IIID 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          inherited metabolic disorder 2232
            lysosomal storage disease 528
              mucopolysaccharidosis 31
                mucopolysaccharidosis III 11
                  mucopolysaccharidosis type IIIA 3
                  mucopolysaccharidosis type IIIB 1
                  mucopolysaccharidosis type IIIC 4
                  mucopolysaccharidosis type IIID 2
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.