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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;   RD3-RELATED CONDITION;   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 | ClinVar Annotator: match by term: RD3-related condition 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:17186464 PMID:17576681 PMID:20301475 PMID:21928830 More... RGD:11560490 NCBI chr13:106,060,657...106,097,063
Ensembl chr13:106,084,171...106,093,540 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      Leber congenital amaurosis 145
        Leber congenital amaurosis 12 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              retinal disease 1474
                Leber congenital amaurosis 145
                  Leber congenital amaurosis 12 1
paths to the root