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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 B6
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Accession:DOID:0110637 term browser browse the term
Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: CONGENITAL MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY WITH MENTAL RETARDATION, TYPE B6;   MDC1D;   MDDGB6;   congenital muscular dystrophy, LARGE-related;   congenital muscular dystrophy, type 1D;   congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B6;   muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6;   muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
 primary_id: MESH:C563844
 alt_id: OMIM:608840
 xref: ORDO:98894
For additional species annotation, visit the Alliance of Genome Resources.



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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 18154
    Developmental Disease 12988
      Neurodevelopmental Disorders 6187
        intellectual disability 3972
          muscular dystrophy-dystroglycanopathy type B6 10
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        peripheral nervous system disease 3019
          neuropathy 2805
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    muscular dystrophy 420
                      congenital muscular dystrophy 116
                        muscular dystrophy-dystroglycanopathy 69
                          muscular dystrophy-dystroglycanopathy type B 19
                            muscular dystrophy-dystroglycanopathy type B6 10
paths to the root