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muscular dystrophy-dystroglycanopathy type B15 - 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 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 the DPM3 gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: MDDGB15;   congenital muscular dystrophy, DPM3-related;   muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
 alt_id: DOID:9001076
 xref: MIM:618992;   MONDO:0033556

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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
Ensembl chr15:174,676,363...174,677,668 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    physical disorder 5203
      congenital muscular dystrophy 213
        muscular dystrophy-dystroglycanopathy 91
          muscular dystrophy-dystroglycanopathy type B 20
            muscular dystrophy-dystroglycanopathy type B15 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        peripheral nervous system disease 4406
          neuropathy 4192
            neuromuscular disease 3234
              muscular disease 2239
                muscle tissue disease 1361
                  myopathy 1055
                    muscular dystrophy 659
                      congenital muscular dystrophy 213
                        muscular dystrophy-dystroglycanopathy 91
                          muscular dystrophy-dystroglycanopathy type B 20
                            muscular dystrophy-dystroglycanopathy type B15 1
paths to the root