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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: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED
 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
OMIM
ClinVar
PMID:9462750 PMID:9660588 PMID:15024725 PMID:17962469 PMID:18936139 PMID:19339744 PMID:22665969 PMID:23105016 PMID:23847139 PMID:24265693 PMID:25074776 PMID:25342276 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26448634 PMID:28492532 PMID:30054919 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 16091
    physical disorder 2462
      Leber congenital amaurosis 73
        Leber congenital amaurosis 15 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                Leber congenital amaurosis 15 1
paths to the root