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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 6
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Accession:DOID:0110329 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. (DO)
Synonyms:exact_synonym: LCA6
 primary_id: MESH:C565327
 alt_id: OMIM:613826;   RDO:0013997
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 6 ClinVar PMID:17397051 PMID:25741868 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 6
ClinVar Annotator: match by OMIM:613826
OMIM
ClinVar
PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 PMID:15024725 PMID:15800011 PMID:16123401 PMID:16339905 PMID:16374347 PMID:17964524 PMID:18055816 PMID:20079931 PMID:21153841 PMID:21224891 PMID:21857984 PMID:22025579 PMID:22277662 PMID:23105016 PMID:24123792 PMID:24265693 PMID:24997176 PMID:25741868 PMID:26047050 PMID:26667666 PMID:27884173 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28714225 PMID:29844330 PMID:30072743 PMID:30202406 PMID:30576320 PMID:30718709 PMID:32165824 PMID:32860008 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      Leber congenital amaurosis 73
        Leber congenital amaurosis 6 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                Leber congenital amaurosis 6 2
paths to the root