Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by OMIM:608840
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
OMIM
ClinVar
PMID:12966029, PMID:15661757, PMID:17878207, PMID:18414213, PMID:19067344, PMID:24709677, PMID:25741868, PMID:26467025, PMID:27159402, PMID:28454995, PMID:28492532, PMID:12966029 RGD:1358756 NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Neurodevelopmental Disorders 4622
        intellectual disability 2167
          muscular dystrophy-dystroglycanopathy type B6 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  atrophic muscular disease 333
                    muscular dystrophy 331
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 38
                          muscular dystrophy-dystroglycanopathy type B6 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.