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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


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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:9536098 PMID:17397051 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO
ISS		 ClinVar Annotator: match by term: Leber congenital amaurosis 6
CTD Direct Evidence: marker/mechanism
OMIM:613826		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      Leber congenital amaurosis 132
        Leber congenital amaurosis 6 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              retinal disease 1223
                Leber congenital amaurosis 132
                  Leber congenital amaurosis 6 2
paths to the root