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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 15
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Accession:DOID:0110189 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. (DO)
Synonyms:exact_synonym: LCA15
 narrow_synonym: juvenile retinitis pigmentosa, TULP1-related
 primary_id: OMIM:613843
For additional species annotation, visit the Alliance of Genome Resources.



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Leber congenital amaurosis 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 15 OMIM
ClinVar
PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      Leber congenital amaurosis 115
        Leber congenital amaurosis 15 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                Leber congenital amaurosis 15 1
paths to the root