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muscular dystrophy-dystroglycanopathy type B - Ontology Report - Rat Genome Database

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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: MIM:PS613155

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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 1:211,772,644...211,774,866
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 1:86,607,769...86,615,045
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 5:73,134,746...73,191,772
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 chr19:11,609,004...12,057,174
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 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
OMIM:613155		 OMIM
ClinVar
MouseDO		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 3:35,918,370...35,936,330
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:16199547 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 More... NCBI chr 8:108,737,429...108,740,437
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 2:176,974,290...176,974,805
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...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:9536098 PMID:15894594 PMID:16701995 PMID:17559086 PMID:17576681 More... NCBI chr 6:112,486,416...112,525,799
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:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 More... NCBI chr 5:134,870,971...134,880,864
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:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 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:10545611 PMID:11165248 PMID:14627679 PMID:17034757 PMID:17044012 More... NCBI chr 5:73,134,746...73,191,772
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
ISS		 ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5
OMIM:606612
DNA:missense mutations: :p.A455D, p.V405L (human)		 OMIM
ClinVar
MouseDO
RGD		 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:1358626 NCBI chr 1:86,607,769...86,615,045
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 chr14:81,956,777...82,087,392
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 7:19,696,951...19,725,180
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6
OMIM:608840		 ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... RGD:1358756 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		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 7:17,907,668...17,927,136
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 chr14:81,778,495...81,843,084
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 7:19,244,032...19,701,571
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 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		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 chr14:81,920,819...81,930,202
Ensembl chr14:77,696,333...77,705,741 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    physical disorder 5202
      congenital muscular dystrophy 210
        muscular dystrophy-dystroglycanopathy 90
          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 12
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  myopathy 1049
                    muscular dystrophy 654
                      congenital muscular dystrophy 210
                        muscular dystrophy-dystroglycanopathy 90
                          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 12
paths to the root