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muscular dystrophy-dystroglycanopathy type B6 - 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 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: MDC1D;   MDDGB6;   congenital muscular dystrophy, LARGE-related;   congenital muscular dystrophy, type 1D;   congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B6;   congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;   muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6;   muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
 xref: MESH:C563844;   MIM:608840;   MONDO:0012138;   ORDO:98894

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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 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,413,845...32,464,446
Ensembl chr22:32,413,845...32,464,484 		JBrowse link
G C22orf42 chromosome 22 open reading frame 42 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,149,006...32,160,448
Ensembl chr22:32,149,006...32,159,322 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G FBXO7 F-box protein 7 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP
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 chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LOC130067280 ATAC-STARR-seq lymphoblastoid silent region 13648 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:25741868 NCBI chr22:33,920,004...33,920,103 JBrowse link
G LOC130067281 ATAC-STARR-seq lymphoblastoid silent region 13649 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar NCBI chr22:33,920,374...33,920,523 JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G RFPL2 ret finger protein like 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,190,438...32,205,073
Ensembl chr22:32,190,435...32,205,073 		JBrowse link
G RFPL3 ret finger protein like 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,354,885...32,361,161
Ensembl chr22:32,354,885...32,361,161 		JBrowse link
G RFPL3S RFPL3 antisense IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,359,906...32,371,264
Ensembl chr22:32,359,886...32,382,106 		JBrowse link
G RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,387,582...32,412,247
Ensembl chr22:32,387,582...32,412,248 		JBrowse link
G SLC5A1 solute carrier family 5 member 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029 		JBrowse link
G SLC5A4 solute carrier family 5 member 4 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,218,464...32,355,063
Ensembl chr22:32,218,464...32,255,347 		JBrowse link
G SYN3 synapsin III IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962 		JBrowse link
G YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:31,944,535...31,957,603
Ensembl chr22:31,944,522...31,957,603 		JBrowse link
G YWHAH-AS1 YWHAH antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:31,933,521...31,945,366
Ensembl chr22:31,907,140...31,945,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    Developmental Disease 49460
      Neurodevelopmental Disorders 16514
        intellectual disability 7302
          muscular dystrophy-dystroglycanopathy type B6 19
Path 2
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        peripheral nervous system disease 7683
          neuropathy 7130
            neuromuscular disease 5440
              muscular disease 3804
                muscle tissue disease 2579
                  myopathy 1664
                    muscular dystrophy 947
                      congenital muscular dystrophy 282
                        muscular dystrophy-dystroglycanopathy 123
                          muscular dystrophy-dystroglycanopathy type B 27
                            muscular dystrophy-dystroglycanopathy type B6 19
paths to the root