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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 3
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Accession:DOID:0110331 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. (DO)
Synonyms:exact_synonym: Amaurosis congenita of Leber, 3;   LCA3;   Leber Congenital Amaurosis Type 3
 narrow_synonym: RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED;   Retinitis pigmentosa, juvenile, autosomal recessive
 broad_synonym: SPATA7-related disorder
 primary_id: MESH:C536998;   MESH:C565814
 alt_id: OMIM:604232
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by OMIM:604232
ClinVar Annotator: match by term: Leber congenital amaurosis 3
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED
OMIM
ClinVar
PMID:19268277, PMID:20104588, PMID:21310915, PMID:22136677, PMID:22334370, PMID:23847139, PMID:24033266, PMID:24938718, PMID:25133751, PMID:26047050, PMID:26261414, PMID:26854980, PMID:28481129, PMID:28492532 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Hereditary Eye Diseases 572
          retinitis pigmentosa 264
            Leber congenital amaurosis 3 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            retinal disease 777
              retinal degeneration 463
                fundus dystrophy 331
                  retinitis pigmentosa 264
                    Leber congenital amaurosis 3 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.