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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 9
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Accession:DOID:0110005 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: Amaurosis Congenita of Leber, Type 9;   LCA9;   Leber congenital amaurosis, type 9
 primary_id: MESH:C536603
 alt_id: OMIM:608553;   RDO:0002233
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by OMIM:608553
ClinVar Annotator: match by term: Leber congenital amaurosis 9
OMIM
ClinVar
PMID:12734549 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 PMID:23040504 PMID:24033266 PMID:24625443 PMID:24830548 PMID:24940029 PMID:25741868 PMID:26018082 PMID:26103963 PMID:26316326 PMID:27032803 PMID:28041643 PMID:28492532 PMID:29178642 PMID:30311386 PMID:32581362 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      Leber congenital amaurosis 73
        Leber congenital amaurosis 9 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                Leber congenital amaurosis 9 1
paths to the root