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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 8
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Accession:DOID:0110079 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. (DO)
Synonyms:exact_synonym: LCA8
 primary_id: OMIM:613835
 alt_id: RDO:9000513
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by OMIM:613835
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Leber congenital amaurosis 8
OMIM
ClinVar
PMID:1389483 PMID:1427914 PMID:2906847 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12567265 PMID:12700176 PMID:12843338 PMID:14971589 PMID:15024725 PMID:15459956 PMID:15623792 PMID:16123401 PMID:16272259 PMID:16505055 PMID:16543197 PMID:17128490 PMID:17297678 PMID:17525851 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18682808 PMID:19140180 PMID:19339744 PMID:19401883 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20956273 PMID:21602930 PMID:22065545 PMID:22277662 PMID:22968130 PMID:23105016 PMID:23379534 PMID:23449718 PMID:23462753 PMID:23591405 PMID:23592920 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24715753 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25323024 PMID:25474345 PMID:25741868 PMID:26047050 PMID:26147992 PMID:26667666 PMID:27096895 PMID:27113771 PMID:27157150 PMID:27258436 PMID:27375279 PMID:27380427 PMID:27628848 PMID:28005958 PMID:28041643 PMID:28129017 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28819299 PMID:29068479 PMID:29178642 PMID:29186038 PMID:29391521 PMID:30029497 PMID:30576320 PMID:30718709 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      Leber congenital amaurosis 72
        Leber congenital amaurosis 8 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                Leber congenital amaurosis 8 1
paths to the root