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 19 multiple types
go back to main search page
Accession:DOID:0110263 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: CATARACT 19;   CTRCT19
 primary_id: OMIM:615277
 xref: ICD10CM:Q12.0


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
cataract 19 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lim2 lens intrinsic membrane protein 2 ISO ClinVar Annotator: match by term: Cataract 19 multiple types OMIM
ClinVar
PMID:11917274 PMID:18596884 PMID:21386927 PMID:25741868 PMID:28492532 More... NCBI chrNW_004937378:46,650...48,619 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6272
      eye disease 3199
        lens disease 394
          cataract 384
            cataract 19 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11257
      Signs and Symptoms 9333
        Neurologic Manifestations 9024
          sensory system disease 6272
            eye disease 3199
              lens disease 394
                cataract 384
                  cataract 19 multiple types 1
paths to the root