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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 12
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Accession:DOID:0110080 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: LCA12;   Rod-cone dysplasia 2
 primary_id: MESH:C565697
 alt_id: OMIA:001260;   OMIM:610612;   RDO:0014261
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rd3 retinal degeneration 3, GUCY2D regulator treatment ISO ClinVar Annotator: match by OMIM:610612
ClinVar Annotator: match by term: Leber congenital amaurosis 12
OMIM
ClinVar
PMID:17186464 PMID:21928830 PMID:22531706 PMID:23308101 PMID:24265693 PMID:24516651 PMID:25741868 PMID:28492532, PMID:23740938 RGD:11560490 NCBI chr13:110,739,645...110,749,167
Ensembl chr13:110,743,098...110,748,365
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      Leber congenital amaurosis 73
        Leber congenital amaurosis 12 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                Leber congenital amaurosis 12 1
paths to the root