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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 IV
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Accession:DOID:12804 term browser browse the term
Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. (DO)
Synonyms:exact_synonym: Eccentroosteochondrodysplasia;   Eccentroosteochondrodysplasias;   Galactosamine 6 Sulfatase Deficiency;   Galactosamine-6-Sulfatase Deficiencies;   Morquio Disease;   Morquio Syndrome;   Morquio Syndromes;   Morquio's Disease;   Morquio's Syndrome;   Morquios Disease;   Morquios Syndrome;   Mucopolysaccharidosis 4;   deficiency of N-acetylgalactosamine-6-sulphatase;   deficiency of chondroitinsulphatase;   eccentro osteochondrodysplasia;   eccentro-osteochondrodysplasias;   mucopolysaccharidosis type IV;   mucopolysaccharidosis, MPS-IV
 narrow_synonym: chondroosteodystrophy;   osteochondrodystrophy
 primary_id: MESH:D009085
 xref: ICD10CM:E76.219;   NCI:C61263
For additional species annotation, visit the Alliance of Genome Resources.



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mucopolysaccharidosis IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome
CTD
ClinVar
PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 More... NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
JBrowse link
G Glb1 galactosidase, beta 1 ISO Morquio disease type B
ClinVar Annotator: match by term: Morquio syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:998 A > G (p.Y333C)(human)
ClinVar
CTD
RGD
PMID:1928092 PMID:7586649 PMID:11511921 PMID:19091613 RGD:1598984, RGD:12910454 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286
JBrowse link
mucopolysaccharidosis IVA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
JBrowse link
G Car5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:51,164,316...51,182,677
Ensembl chr19:51,166,034...51,182,677
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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:7795586 More... NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Pabpn1l PABPN1 like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,282,434...50,324,010 JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
JBrowse link
mucopolysaccharidosis type IVB term browser
Symbol Object Name 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:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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:9536098 PMID:16199547 PMID:16941474 More... NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        inherited metabolic disorder 4673
          carbohydrate metabolic disorder 2568
            mucopolysaccharidosis 107
              mucopolysaccharidosis IV 32
                Nonkeratan-Sulfate-Excreting Morquio Syndrome 0
                mucopolysaccharidosis IVA 29
                mucopolysaccharidosis type IVB 2
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            lysosomal storage disease 815
              mucopolysaccharidosis 107
                mucopolysaccharidosis IV 32
                  Nonkeratan-Sulfate-Excreting Morquio Syndrome 0
                  mucopolysaccharidosis IVA 29
                  mucopolysaccharidosis type IVB 2
paths to the root