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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:Aphakia
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Accession:DOID:9008804 term browser browse the term
Definition:Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of LENS DISLOCATION AND SUBLUXATION.
Synonyms:exact_synonym: Aphakias
 primary_id: MESH:D001035;   RDO:0003689


show annotations for term's descendants           Sort by:
Aphakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 IAGP DNA:nonsense mutation:cds:p.C240X (human) RGD PMID:16826526 RGD:1598956 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G PITX3 paired like homeodomain 3 ISO DNA:nonsense mutation:cl444C>A(mouse)
DNA:deletions:promoter, cds:		 RGD PMID:25347445 PMID:11247667 RGD:11535071, RGD:11535075 NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,189...102,241,512 		JBrowse link
congenital aphakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CMPK1 cytidine/uridine monophosphate kinase 1 IAGP ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 1:47,333,790...47,378,839
Ensembl chr 1:47,333,790...47,394,866 		JBrowse link
G FOXE3 forkhead box E3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Congenital primary aphakia
OMIM:610256
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477 		JBrowse link
G STIL STIL centriolar assembly protein IAGP ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9738
      eye disease 4946
        lens disease 594
          Aphakia 5
            Postcataract Aphakia 0
            congenital aphakia 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      nervous system disease 26239
        Neurologic Manifestations 15391
          sensory system disease 9738
            eye disease 4946
              lens disease 594
                Aphakia 5
                  Postcataract Aphakia 0
                  congenital aphakia 4
paths to the root