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Leber congenital amaurosis 5 - 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 5
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Accession:DOID:0110215 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. (DO)
Synonyms:exact_synonym: LCA5;   LCA5-RELATED CONDITION;   Leber congenital amaurosis, type 5
 primary_id: MESH:C536602
 alt_id: MIM:604537

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Leber congenital amaurosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5 OMIM
ClinVar		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chrNW_004624819:6,143,586...6,199,436
Ensembl chrNW_004624819:6,141,740...6,199,624 		JBrowse link
G G LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5 OMIM
ClinVar		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chr13:4,197,522...4,230,274
Ensembl chr13:4,197,371...4,248,854 		JBrowse link
G P LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5 OMIM
ClinVar		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chr 1:86,596,967...86,685,073
Ensembl chr 1:86,597,283...86,685,068 		JBrowse link
G S Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5 OMIM
ClinVar		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chrNW_004936510:10,652,378...10,702,761
Ensembl chrNW_004936510:10,671,297...10,703,618 		JBrowse link
G D LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5 OMIM
ClinVar		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292 		JBrowse link
G B LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5 OMIM
ClinVar		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chr 6:77,366,248...77,418,718
Ensembl chr 6:80,636,181...80,688,609 		JBrowse link
G C Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5 OMIM
ClinVar		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chrNW_004955502:7,325,650...7,373,641
Ensembl chrNW_004955502:7,325,103...7,376,368 		JBrowse link
G R Lca5 lebercilin LCA5 ISO
ISS		 ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5
CTD Direct Evidence: marker/mechanism
OMIM:604537		 OMIM
ClinVar
CTD
MouseDO		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956 		JBrowse link
G M Lca5 Leber congenital amaurosis 5 (human) ISO
IAGP		 ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5
CTD Direct Evidence: marker/mechanism
OMIM:604537		 OMIM
ClinVar
CTD
MouseDO		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chr 9:83,273,408...83,325,047
Ensembl chr 9:83,272,346...83,323,180 		JBrowse link
G H LCA5 lebercilin LCA5 IAGP
EXP
ISS		 ClinVar Annotator: match by term: Leber congenital amaurosis 5
ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5
CTD Direct Evidence: marker/mechanism
OMIM:604537		 ClinVar
CTD
MouseDO
OMIM		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458 		JBrowse link
G H LOC129996749 ATAC-STARR-seq lymphoblastoid active region 24769 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr 6:79,537,894...79,537,943 JBrowse link
G N Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chrNW_004624789:3,589,863...3,605,655
Ensembl chrNW_004624789:3,592,214...3,605,537 		JBrowse link
G G POU1F1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chr22:89,649,971...89,668,675
Ensembl chr22:89,649,999...89,668,941 		JBrowse link
G P POU1F1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chr13:168,510,671...168,530,394
Ensembl chr13:168,510,774...168,529,345 		JBrowse link
G S Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chrNW_004936610:2,262,715...2,279,098
Ensembl chrNW_004936610:2,262,715...2,279,098 		JBrowse link
G D POU1F1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		JBrowse link
G B POU1F1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chr 3:87,390,157...87,407,611
Ensembl chr 3:89,501,298...89,521,168 		JBrowse link
G C Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chrNW_004955407:5,996,016...6,011,483
Ensembl chrNW_004955407:5,996,016...6,011,483 		JBrowse link
G R Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chr11:16,763,312...16,781,295
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G M Pou1f1 POU domain, class 1, transcription factor 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chr16:65,317,398...65,331,904
Ensembl chr16:65,317,397...65,331,183 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G G SH3BGRL2 SH3 domain binding glutamate rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr13:4,342,588...4,416,054
Ensembl chr13:4,363,387...4,413,063 		JBrowse link
G P SH3BGRL2 SH3 domain binding glutamate rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr 1:86,416,281...86,481,805
Ensembl chr 1:86,358,483...86,481,776 		JBrowse link
G D SH3BGRL2 SH3 domain binding glutamate rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr12:40,579,997...40,656,376
Ensembl chr12:40,597,149...40,654,005 		JBrowse link
G B SH3BGRL2 SH3 domain binding glutamate rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr 6:77,303,334...77,584,938
Ensembl chr 6:80,782,103...80,850,087 		JBrowse link
G C Sh3bgrl2 SH3 domain binding glutamate rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chrNW_004955502:7,517,466...7,575,560
Ensembl chrNW_004955502:7,517,461...7,575,951 		JBrowse link
G R Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564 		JBrowse link
G M Sh3bgrl2 SH3 domain binding glutamic acid-rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr 9:83,430,391...83,482,345
Ensembl chr 9:83,430,380...83,520,854 		JBrowse link
G H SH3BGRL2 SH3 domain binding glutamate rich protein like 2 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr 6:79,537,633...79,703,655
Ensembl chr 6:79,537,185...79,703,655 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      Leber congenital amaurosis 1337
        Leber congenital amaurosis 5 29
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              retinal disease 15895
                Leber congenital amaurosis 1337
                  Leber congenital amaurosis 5 29
paths to the root