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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: juvenile retinitis pigmentosa, SPATA7-related;   juvenile retinitis pigmentosa, autosomal recessive
 broad_synonym: SPATA7-related disorder
 primary_id: OMIM:604232
 alt_id: MESH:C536998;   MESH:C565814
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:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    physical disorder 3094
      Leber congenital amaurosis 97
        Leber congenital amaurosis 3 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        sensory system disease 5664
          eye disease 2768
            retinal disease 841
              retinal degeneration 511
                fundus dystrophy 379
                  retinitis pigmentosa 306
                    Leber congenital amaurosis 3 1
paths to the root