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Congenital Muscular Dystrophy, Davignon-Chauveau Type - 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: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;   TRIP4-RELATED DISORDERS
 primary_id: MIM:617066

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show annotations for term's descendants           Sort by:
Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126862156 MED14-independent group 3 enhancer GRCh37_chr15:64736443-64737642 IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type ClinVar PMID:25741868 PMID:28492532 NCBI chr15:64,444,244...64,445,443 JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type
ClinVar Annotator: match by term: TRIP4-Related Disorders
ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type | ClinVar Annotator: match by term: TRIP4-Related Disorders 		ClinVar
OMIM		 PMID:16199547 PMID:25741868 PMID:26924529 PMID:27008887 PMID:28492532 More... NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    physical disorder 8587
      congenital muscular dystrophy 282
        Congenital Muscular Dystrophy, Davignon-Chauveau Type 2
Path 2
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        peripheral nervous system disease 7683
          neuropathy 7130
            neuromuscular disease 5440
              muscular disease 3804
                muscle tissue disease 2579
                  myopathy 1664
                    muscular dystrophy 947
                      congenital muscular dystrophy 282
                        Congenital Muscular Dystrophy, Davignon-Chauveau Type 2
paths to the root