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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
 xref: MESH:C565697;   MIM:610612;   OMIA:001260


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:610612
ClinVar Annotator: match by term: Leber congenital amaurosis 12		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:17186464 PMID:17576681 PMID:20301475 PMID:21928830 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 19106
    physical disorder 5182
      Leber congenital amaurosis 132
        Leber congenital amaurosis 12 1
Path 2
Term Annotations click to browse term
  disease 19106
    Pathological Conditions, Signs and Symptoms 13615
      Signs and Symptoms 11199
        Neurologic Manifestations 10433
          sensory system disease 7336
            eye disease 3682
              retinal disease 1402
                Leber congenital amaurosis 132
                  Leber congenital amaurosis 12 1
paths to the root