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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 aphakia
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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 Cmpk1 cytidine/uridine monophosphate kinase 1 ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 5:128,480,301...128,507,830
Ensembl chr 5:128,480,301...128,507,830
JBrowse link
G Foxe3 forkhead box E3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital primary aphakia
CTD
ClinVar
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
JBrowse link
G Stil STIL, centriolar assembly protein ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    physical disorder 5116
      congenital aphakia 3
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      nervous system disease 14106
        Neurologic Manifestations 10111
          sensory system disease 7131
            eye disease 3308
              corneal disease 213
                sclerocornea 35
                  anterior segment dysgenesis 32
                    anterior segment dysgenesis 2 3
                      congenital aphakia 3
paths to the root