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RGD uses the Human Disease Ontology (DO, 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
 primary_id: OMIM:613843
 alt_id: RDO:0009961
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 OMIM:613843
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leber congenital amaurosis 15
PMID:9462750, PMID:9660588, PMID:15024725, PMID:17962469, PMID:18936139, PMID:25741868, PMID:28492532, PMID:31549751 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        retinal disease 777
          Leber congenital amaurosis 72
            Leber congenital amaurosis 15 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                Leber congenital amaurosis 15 1
paths to the root


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