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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:Leber congenital amaurosis 10
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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


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Leber congenital amaurosis 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 IAGP
ISS
EXP		 DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Leber congenital amaurosis 10
OMIM:611755
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations:cds, intron:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11064164, RGD:11537378, RGD:11537381 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G LOC129390514 MPRA-validated peak1864 silencer IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 10 ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 PMID:21866095 More... NCBI chr12:88,062,639...88,062,839 JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 10 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      Leber congenital amaurosis 176
        Leber congenital amaurosis 10 3
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            eye disease 4942
              retinal disease 2030
                Leber congenital amaurosis 176
                  Leber congenital amaurosis 10 3
paths to the root