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:cataract 46 juvenile-onset
go back to main search page
Accession:DOID:0110243 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: CTRCT46;   cataract, Hutterite type;   juvenilae cataract Hutterite type;   juvenile cataract, Hutterite type;   juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy
 primary_id: MESH:C538286
 alt_id: OMIM:212500
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
cataract 46 juvenile-onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset OMIM
ClinVar
PMID:4061486 PMID:23806086 PMID:23863954 PMID:24088041 PMID:26788539 More... NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        lens disease 310
          cataract 305
            cataract 46 juvenile-onset 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                cataract 46 juvenile-onset 1
paths to the root