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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 B2
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Accession:DOID:0112380 term browser browse the term
Definition:A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on chromosome 14q24.3. (DO)
Synonyms:exact_synonym: MDDGB2;   Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2;   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
 alt_id: DOID:9005669
 xref: NCI:C126690
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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:16701995 PMID:17634419 PMID:17878207 PMID:17878297 PMID:18513969 More... NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Neurodevelopmental Disorders 6186
        intellectual disability 3970
          muscular dystrophy-dystroglycanopathy type B2 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            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 B2 1
paths to the root