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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 7
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Accession:DOID:0110333 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: LCA7
 primary_id: OMIM:613829



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Leber congenital amaurosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 OMIM
ClinVar
PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190
JBrowse link
G SULT2A1 sulfotransferase family 2A member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr 6:53,525,496...53,536,723
Ensembl chr 6:53,524,787...53,536,718
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    physical disorder 4812
      Leber congenital amaurosis 129
        Leber congenital amaurosis 7 2
Path 2
Term Annotations click to browse term
  disease 17416
    Pathological Conditions, Signs and Symptoms 11770
      Signs and Symptoms 9715
        Neurologic Manifestations 9396
          sensory system disease 6498
            eye disease 3310
              retinal disease 1172
                Leber congenital amaurosis 129
                  Leber congenital amaurosis 7 2
paths to the root