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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 megabladder
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Accession:DOID:0112014 term browser browse the term
Definition:A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. (DO)
Synonyms:exact_synonym: MGBL
 primary_id: OMIM:618719
 xref: EFO:0010655


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congenital megabladder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYOCD myocardin ISO ClinVar Annotator: match by term: Megabladder, congenital OMIM
ClinVar		 PMID:25741868 PMID:31513549 NCBI chr 5:36,674,476...36,774,435
Ensembl chr 5:36,674,300...36,769,327 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      congenital megabladder 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal dominant disease 6137
                congenital megabladder 1
paths to the root