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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 DNA:deletions:cds (human)
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar Annotator: match by OMIM:613829
ClinVar
OMIM
RGD
PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... RGD:734827 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
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 1:75,451,178...75,508,142 JBrowse link

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 7 2
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
              Leber congenital amaurosis 97
                Leber congenital amaurosis 7 2
paths to the root