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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 16023
    sensory system disease 5231
      eye disease 2664
        retinal disease 783
          Leber congenital amaurosis 73
            Leber congenital amaurosis 12 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                Leber congenital amaurosis 12 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.