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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:15800011, PMID:16123401, PMID:16339905, PMID:16374347, PMID:17964524, PMID:18055816, PMID:20079931, PMID:21153841, PMID:21224891, PMID:21857984, PMID:22025579, PMID:22277662, PMID:24123792, PMID:24265693, PMID:24997176, PMID:25741868, PMID:26047050, PMID:26667666, PMID:27884173, PMID:28041643, PMID:28492532, PMID:28714225, PMID:30072743, PMID:30202406, PMID:30576320, PMID:30718709 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 16103
    sensory system disease 5162
      eye disease 2592
        retinal disease 777
          Leber congenital amaurosis 72
            Leber congenital amaurosis 6 2
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                Leber congenital amaurosis 6 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.