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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, Davignon-Chauveau Type
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Accession:DOID:9006286 term browser browse the term
Synonyms:exact_synonym: Davignon-Chauveau type of congenital muscular dystrophy;   MDCDC
 primary_id: OMIM:617066
 alt_id: RDO:9001465
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type ClinVar
OMIM
PMID:25741868 PMID:27008887 PMID:31794073 NCBI chr 8:71,369,121...71,533,281
Ensembl chr 8:71,371,370...71,533,459
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital muscular dystrophy 71
        Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  atrophic muscular disease 316
                    muscular dystrophy 314
                      limb-girdle muscular dystrophy 148
                        Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
paths to the root