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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 16108
    sensory system disease 5162
      eye disease 2593
        retinal disease 777
          Leber congenital amaurosis 72
            Leber congenital amaurosis 9 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 9 1
paths to the root

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