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


RGD uses the Human Disease Ontology (DO, 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:cataract 5 multiple types
go back to main search page
Accession:DOID:0110255 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. (DO)
Synonyms:exact_synonym: CAM;   CTM;   CTRCT5;   Cataract, Marner Type;   early onset cataract;   lamellar cataract;   perinuclear cataract;   zonular cataract
 primary_id: MESH:C535342
 alt_id: OMIA:001758;   OMIM:116800
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
cataract 5 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl8 F-box and leucine-rich repeat protein 8 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar NCBI chr19:37,216,696...37,225,701
Ensembl chr19:37,221,132...37,226,065
JBrowse link
G Hsf4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Cataract 5 multiple types
ClinVar Annotator: match by OMIM:116800
ClinVar Annotator: match by term: Cataract, zonular
ClinVar Annotator: match by term: Lamellar cataract
PMID:3233780, PMID:12089525, PMID:15959809, PMID:18941546, PMID:20670914, PMID:24045990, PMID:24975927, PMID:25741868, PMID:28492532 NCBI chr19:37,225,800...37,232,048
Ensembl chr19:37,226,186...37,231,912
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        lens disease 220
          cataract 213
            cataract 5 multiple types 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                cataract 5 multiple types 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.