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Leber congenital amaurosis 9 - Ontology Report - Rat Genome Database

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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: LCA9;   Leber congenital amaurosis, type 9;   amaurosis congenita of Leber, type 9
 xref: MESH:C536603;   MIM:608553;   MONDO:0012056

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Leber congenital amaurosis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC126805613 BRD4-independent group 4 enhancer GRCh37_chr1:10002582-10003781 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 9 ClinVar PMID:26316326 NCBI chr 1:9,942,420...9,943,723 JBrowse link
G N Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 OMIM
ClinVar		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624818:2,575,476...2,591,423
Ensembl chrNW_004624818:2,573,498...2,580,095 		JBrowse link
G G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 OMIM
ClinVar		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chr20:121,790,836...121,797,043 JBrowse link
G P NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 OMIM
ClinVar		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,014...70,310,707 		JBrowse link
G S Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 OMIM
ClinVar		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936623:3,862,234...3,891,849
Ensembl chrNW_004936623:3,870,031...3,891,849 		JBrowse link
G D NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 OMIM
ClinVar		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661 		JBrowse link
G B NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 OMIM
ClinVar		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chr 1:8,712,798...8,753,027
Ensembl chr 1:9,942,491...9,982,364 		JBrowse link
G C Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 OMIM
ClinVar		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955486:3,637,794...3,655,744
Ensembl chrNW_004955486:3,637,794...3,655,598 		JBrowse link
G R Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO
ISS 		ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9
OMIM:608553
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G M Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO
IAGP 		ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9
CTD Direct Evidence: marker/mechanism
OMIM:608553 		OMIM
ClinVar
CTD
MouseDO		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		JBrowse link
G H NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Leber congenital amaurosis 9
ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9
ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9
OMIM:608553
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292310
    physical disorder 54123
      Leber congenital amaurosis 1348
        Leber congenital amaurosis 9 11
Path 2
Term Annotations click to browse term
  disease 292310
    Pathological Conditions, Signs and Symptoms 179680
      Signs and Symptoms 137794
        Neurologic Manifestations 126897
          sensory system disease 89675
            eye disease 42532
              retinal disease 15929
                Leber congenital amaurosis 1348
                  Leber congenital amaurosis 9 11
paths to the root