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 (congenital with mental retardation), Type B, 2
go back to main search page
Accession:DOID:9005669 term browser browse the term
Synonyms:exact_synonym: MDDGB2;   congenital muscular dystrophy, POMT2-related;   congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B2;   congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
 primary_id: OMIM:613156
 xref: NCI:C126690
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 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 OMIM:613156
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
OMIM
ClinVar
PMID:16701995 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        intellectual disability 2171
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  atrophic muscular disease 314
                    muscular dystrophy 312
                      congenital muscular dystrophy 71
                        muscular dystrophy-dystroglycanopathy 37
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
paths to the root