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:Leber congenital amaurosis 10
go back to main search page
Accession:DOID:0110291 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. (DO)
Synonyms:exact_synonym: LCA10
 primary_id: MESH:C565720
 alt_id: OMIM:611755
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Leber congenital amaurosis 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by OMIM:611755
ClinVar Annotator: match by null
DNA:mutations:exon, intron:multiple
DNA:frameshift mutations, nonsense mutations:cds, intron:multiple
ClinVar Annotator: match by term: Leber congenital amaurosis 10
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11064164, RGD:11537378, RGD:11537381 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 10 ClinVar PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    physical disorder 3093
      Leber congenital amaurosis 97
        Leber congenital amaurosis 10 2
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          eye disease 2766
            retinal disease 841
              Leber congenital amaurosis 97
                Leber congenital amaurosis 10 2
paths to the root