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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 B15
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Accession:DOID:0112376 term browser browse the term
Definition:A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in DPM3 on chromosome 1q22. (DO)
Synonyms:exact_synonym: MDDGB15;   congenital muscular dystrophy, DPM3-related;   muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
 primary_id: OMIM:618992
 alt_id: DOID:9001076
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
muscular dystrophy-dystroglycanopathy type B15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 OMIM
ClinVar
PMID:31469168 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital muscular dystrophy 116
        muscular dystrophy-dystroglycanopathy 69
          muscular dystrophy-dystroglycanopathy type B 19
            muscular dystrophy-dystroglycanopathy type B15 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 B15 1
paths to the root