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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
 broad_synonym: TRIP4-RELATED CONDITION
 primary_id: MIM:617066

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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 OMIM
ClinVar		 PMID:25741868 PMID:27008887 PMID:28492532 PMID:31794073 NCBI chrNW_004936471:24,795,718...24,868,440
Ensembl chrNW_004936471:24,811,841...24,869,966 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    physical disorder 4887
      congenital muscular dystrophy 204
        Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14320
      nervous system disease 12594
        peripheral nervous system disease 4035
          neuropathy 3853
            neuromuscular disease 3033
              muscular disease 2111
                muscle tissue disease 1276
                  atrophic muscular disease 638
                    Brody myopathy 634
                      muscular dystrophy 620
                        limb-girdle muscular dystrophy 225
                          Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
paths to the root