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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:muscular dystrophy-dystroglycanopathy type B
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Accession:DOID:0112375 term browser browse the term
Definition:A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies. (DO)
Synonyms:exact_synonym: MDDGB
 xref: OMIM:PS613155
For additional species annotation, visit the Alliance of Genome Resources.



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muscular dystrophy-dystroglycanopathy type B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
JBrowse link
G Fkrp fukutin related protein ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Fktn fukutin ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 OMIM
ClinVar
PMID:11053679 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 More... NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
JBrowse link
muscular dystrophy-dystroglycanopathy type B14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 OMIM
ClinVar
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 More... NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
JBrowse link
muscular dystrophy-dystroglycanopathy type B15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 OMIM
ClinVar
PMID:31469168 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
JBrowse link
muscular dystrophy-dystroglycanopathy type B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED OMIM
ClinVar
PMID:16701995 PMID:17634419 PMID:17878207 PMID:17878297 PMID:18513969 More... NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
JBrowse link
muscular dystrophy-dystroglycanopathy type B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED OMIM
ClinVar
PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link
muscular dystrophy-dystroglycanopathy type B4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED OMIM
ClinVar
PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
JBrowse link
muscular dystrophy-dystroglycanopathy type B5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5
DNA:missense mutations: :p.A455D, p.V405L (human)
OMIM
ClinVar
RGD
PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:1358626 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpifc BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,848,787...17,905,993
Ensembl chr 7:17,861,007...17,905,919
JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
JBrowse link
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar
OMIM
RGD
PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17576681 More... RGD:1358756 NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
JBrowse link
G Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,907,786...17,927,134
Ensembl chr 7:17,907,705...17,927,132
JBrowse link
G Slc5a1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:77,553,990...77,618,589
Ensembl chr14:77,553,843...77,618,547
JBrowse link
G Slc5a4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr20:12,475,644...12,518,738
Ensembl chr20:12,475,644...12,518,738
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
JBrowse link
G Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:77,696,332...77,705,715
Ensembl chr14:77,696,333...77,705,741
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    physical disorder 4311
      congenital muscular dystrophy 116
        muscular dystrophy-dystroglycanopathy 69
          muscular dystrophy-dystroglycanopathy type B 19
            muscular dystrophy-dystroglycanopathy type B1 6
            muscular dystrophy-dystroglycanopathy type B14 1
            muscular dystrophy-dystroglycanopathy type B15 1
            muscular dystrophy-dystroglycanopathy type B2 1
            muscular dystrophy-dystroglycanopathy type B3 2
            muscular dystrophy-dystroglycanopathy type B4 1
            muscular dystrophy-dystroglycanopathy type B5 1
            muscular dystrophy-dystroglycanopathy type B6 10
Path 2
Term Annotations click to browse term
  disease 18213
    disease of anatomical entity 17574
      nervous system disease 13207
        peripheral nervous system disease 3054
          neuropathy 2835
            neuromuscular disease 2226
              muscular disease 1455
                muscle tissue disease 949
                  myopathy 778
                    muscular dystrophy 420
                      congenital muscular dystrophy 116
                        muscular dystrophy-dystroglycanopathy 69
                          muscular dystrophy-dystroglycanopathy type B 19
                            muscular dystrophy-dystroglycanopathy type B1 6
                            muscular dystrophy-dystroglycanopathy type B14 1
                            muscular dystrophy-dystroglycanopathy type B15 1
                            muscular dystrophy-dystroglycanopathy type B2 1
                            muscular dystrophy-dystroglycanopathy type B3 2
                            muscular dystrophy-dystroglycanopathy type B4 1
                            muscular dystrophy-dystroglycanopathy type B5 1
                            muscular dystrophy-dystroglycanopathy type B6 10
paths to the root