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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:Megaduodenum
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Accession:DOID:9000807 term browser browse the term
Synonyms:exact_synonym: Fetal megacystis;   Megacystis
 primary_id: MESH:C536139;   RDO:0001591
For additional species annotation, visit the Alliance of Genome Resources.



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Megaduodenum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Megacystis ClinVar PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Fetal megacystis ClinVar PMID:25741868 NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Fetal Diseases 253
          Megaduodenum 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        Female Urogenital Diseases and Pregnancy Complications 2068
          Pregnancy Complications 575
            Fetal Diseases 253
              Megaduodenum 2
paths to the root