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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 MYOCD on chromosome 17p12. (DO)
Synonyms:exact_synonym: MGBL
 primary_id: OMIM:618719
 xref: EFO:0010655
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    physical disorder 4312
      congenital megabladder 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal dominant disease 5419
                congenital megabladder 1
paths to the root