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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:Congenital Muscular Dystrophy with Rapid Progression
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Accession:DOID:9003958 term browser browse the term
Synonyms:exact_synonym: MDRP
 primary_id: MESH:C564983
 alt_id: OMIM:254100


show annotations for term's descendants           Sort by:
Congenital Muscular Dystrophy with Rapid Progression term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bet1 Bet1 golgi vesicular membrane trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with rapid progression ClinVar PMID:25741868 PMID:34779586 NCBI chr 6:4,076,899...4,086,930
Ensembl chr 6:4,076,899...4,086,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    physical disorder 5000
      congenital muscular dystrophy 181
        Congenital Muscular Dystrophy with Rapid Progression 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        peripheral nervous system disease 4111
          neuropathy 3911
            neuromuscular disease 3075
              muscular disease 2167
                muscle tissue disease 1313
                  myopathy 1029
                    muscular dystrophy 601
                      congenital muscular dystrophy 181
                        Congenital Muscular Dystrophy with Rapid Progression 1
paths to the root