Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Megalodactyly
go back to main search page
Accession:DOID:9006085 term browser browse the term
Synonyms:exact_synonym: Macrodactyly
 primary_id: MESH:C562546
 alt_id: OMIM:155500
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Megalodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Megalodactyly ClinVar
OMIM
PMID:17376864 PMID:21824802 PMID:22729224 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      musculoskeletal system disease 6245
        Musculoskeletal Abnormalities 2135
          Congenital Limb Deformities 453
            Megalodactyly 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        Congenital Abnormalities 5194
          Musculoskeletal Abnormalities 2135
            Congenital Limb Deformities 453
              Megalodactyly 1
paths to the root