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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
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 RD3 regulator of GUCY2D treatment ISO ClinVar Annotator: match by term: Leber congenital amaurosis 12 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17186464 PMID:17576681 PMID:21928830 PMID:22531706 More... RGD:11560490 NCBI chr13:103,551,823...103,562,925
Ensembl chr13:103,552,857...103,562,622 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      Leber congenital amaurosis 115
        Leber congenital amaurosis 12 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                Leber congenital amaurosis 12 1
paths to the root