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:congenital aphakia
go back to main search page
Accession:DOID:11367 term browser browse the term
Synonyms:exact_synonym: CPA;   CPAK;   congenital absence of lens;   congenital primary aphakia
 primary_id: MESH:C537786
 xref: ICD10CM:Q12.3;   ICD9CM:743.35;   NCI:C35172
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital aphakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Aphakia, congenital primary
ClinVar Annotator: match by term: Congenital primary aphakia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20361012 PMID:21150893 PMID:24033266 PMID:24033328 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:28492532 PMID:29136273 PMID:29878917 PMID:32499604 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital aphakia 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            corneal disease 198
              sclerocornea 30
                anterior segment dysgenesis 29
                  anterior segment dysgenesis 2 1
                    congenital aphakia 1
paths to the root