ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis
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Accession:DOID:14791 term browser browse the term
Definition:A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
Synonyms:exact_synonym: Congenital Retinal Blindnesses;   Dysgenesis Neuroepithelialis Retinae;   Hereditary Epithelial Dysplasia of Retina;   Hereditary Retinal Aplasia;   Heredoretinopathia Congenitalis;   LCA;   Leber Abiotrophies;   Leber Abiotrophy;   Leber Amaurosis;   Leber Congenital Amauroses;   Leber Congenital Tapetoretinal Degeneration;   Leber's Amauroses;   Leber's amaurosis;   Leber's congenital amaurosis;   Leber's disease;   Lebers amaurosis;   congenital amaurosis of retinal origin;   congenital retinal blindness
 primary_id: MESH:D057130
 alt_id: RDO:0002230
 xref: GARD:634;   OMIM:PS204000;   ORDO:65
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 JBrowse link 19 46,005,055 46,167,912 RGD:8554872
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:70801
RGD:8554872
RGD:8696012
RGD:8696011
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8662304
RGD:8554872
G Cluap1 clusterin associated protein 1 JBrowse link 10 11,847,058 11,878,792 RGD:8554872
G Cngb3 cyclic nucleotide gated channel beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8552697
RGD:8554872
RGD:11554173
RGD:8552785
RGD:8552784
G Crb2 crumbs cell polarity complex component 2 JBrowse link 3 22,037,812 22,061,247 RGD:8552784
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:8554872
RGD:11554173
G Fscn2 fascin actin-bundling protein 2, retinal JBrowse link 10 109,528,307 109,540,675 RGD:8554872
G Gigyf2 GRB10 interacting GYF protein 2 JBrowse link 9 94,425,191 94,550,431 RGD:8554872
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
G Guca1b guanylate cyclase activator 1B JBrowse link 9 15,621,083 15,629,017 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Impdh1 inosine monophosphate dehydrogenase 1 JBrowse link 4 56,478,383 56,493,987 RGD:11554173
RGD:8554872
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:11537384
RGD:8554872
RGD:11537385
G Kcnj13 potassium voltage-gated channel subfamily J member 13 JBrowse link 9 94,486,719 94,495,333 RGD:8554872
G Lca5 lebercilin LCA5 JBrowse link 8 90,926,309 90,984,271 RGD:8554872
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:11554173
RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
G Mpp5 membrane palmitoylated protein 5 JBrowse link 6 101,923,675 102,029,705 RGD:13592920
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:11537385
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:11554173
RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:8554872
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:8554872
G Pde6a phosphodiesterase 6A JBrowse link 18 56,544,652 56,617,480 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8553209
G Rbp1 retinol binding protein 1 JBrowse link 8 106,449,321 106,470,842 RGD:8554872
G Rd3 retinal degeneration 3, GUCY2D regulator JBrowse link 13 110,739,645 110,749,167 RGD:11560485
RGD:8554872
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rims1 regulating synaptic membrane exocytosis 1 JBrowse link 9 28,440,408 28,973,246 RGD:8554872
G Rp2 RP2 activator of ARL3 GTPase JBrowse link X 2,066,298 2,116,661 RGD:8554872
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8553217
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:11554173
RGD:8554872
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:8554872
G Spata7 spermatogenesis associated 7 JBrowse link 6 122,603,248 122,648,718 RGD:11554173
RGD:8554872
G Tulp1 tubby like protein 1 JBrowse link 20 7,931,673 7,943,601 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Zfyve26 zinc finger FYVE-type containing 26 JBrowse link 6 102,409,235 102,472,962 RGD:8554872
Amaurosis Hypertrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 9 43,049,587 43,088,690 RGD:11554173
Leber congenital amaurosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:7240710
RGD:8554872
G Tulp1 tubby like protein 1 JBrowse link 20 7,931,673 7,943,601 RGD:8554872
Leber congenital amaurosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11537381
RGD:11537378
RGD:11064164
Leber congenital amaurosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Impdh1 inosine monophosphate dehydrogenase 1 JBrowse link 4 56,478,383 56,493,987 RGD:7240710
RGD:8554872
Leber congenital amaurosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rd3 retinal degeneration 3, GUCY2D regulator JBrowse link 13 110,739,645 110,749,167 RGD:7240710
RGD:8554872
RGD:11560490
Leber congenital amaurosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:7240710
RGD:8554872
RGD:11554173
G Zfyve26 zinc finger FYVE-type containing 26 JBrowse link 6 102,409,235 102,472,962 RGD:8554872
Leber congenital amaurosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:7240710
RGD:8554872
Leber congenital amaurosis 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tulp1 tubby like protein 1 JBrowse link 20 7,931,673 7,943,601 RGD:7240710
RGD:8554872
Leber congenital amaurosis 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gigyf2 GRB10 interacting GYF protein 2 JBrowse link 9 94,425,191 94,550,431 RGD:8554872
G Kcnj13 potassium voltage-gated channel subfamily J member 13 JBrowse link 9 94,486,719 94,495,333 RGD:7240710
RGD:8554872
Leber congenital amaurosis 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
Leber congenital amaurosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:737730
RGD:8554872
RGD:9495932
RGD:9495919
RGD:9495917
RGD:7240710
Leber congenital amaurosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spata7 spermatogenesis associated 7 JBrowse link 6 122,603,248 122,648,718 RGD:7240710
RGD:8554872
Leber congenital amaurosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:7240710
RGD:8554872
Leber congenital amaurosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lca5 lebercilin LCA5 JBrowse link 8 90,926,309 90,984,271 RGD:7240710
RGD:8554872
Leber congenital amaurosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:7240710
RGD:8554872
Leber congenital amaurosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:734827
RGD:8554872
RGD:7240710
Leber congenital amaurosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:7240710
RGD:8554872
Leber congenital amaurosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:7240710
RGD:8554872
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb4b tubulin, beta 4B class IVb JBrowse link 3 2,441,585 2,444,369 RGD:8554872
RGD:7240710
Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:13592920
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:8554872
RGD:13592920
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 5 169,570,327 169,658,875 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
RGD:11554173
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
RGD:13592920
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
RGD:13592920
G Tmem218 transmembrane protein 218 JBrowse link 8 39,687,280 39,702,722 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11552600
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:7240710
RGD:8554872
RGD:11537383
Senior-Loken Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      eye and adnexa disease 1985
        eye disease 1985
          retinal disease 719
            Leber congenital amaurosis 56
              Amaurosis Hypertrichosis 1
              LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 1
              Leber Congenital Amaurosis Type 3 0
              Leber Congenital Amaurosis, Type 4 0
              Leber congenital amaurosis 1 2
              Leber congenital amaurosis 10 1
              Leber congenital amaurosis 11 1
              Leber congenital amaurosis 12 1
              Leber congenital amaurosis 13 3
              Leber congenital amaurosis 14 1
              Leber congenital amaurosis 15 1
              Leber congenital amaurosis 16 2
              Leber congenital amaurosis 17 1
              Leber congenital amaurosis 2 1
              Leber congenital amaurosis 3 1
              Leber congenital amaurosis 4 1
              Leber congenital amaurosis 5 1
              Leber congenital amaurosis 6 2
              Leber congenital amaurosis 7 1
              Leber congenital amaurosis 8 1
              Leber congenital amaurosis 9 1
              Senior-Loken syndrome + 12
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              Hereditary Eye Diseases 496
                Leber congenital amaurosis 56
                  Amaurosis Hypertrichosis 1
                  LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 1
                  Leber Congenital Amaurosis Type 3 0
                  Leber Congenital Amaurosis, Type 4 0
                  Leber congenital amaurosis 1 2
                  Leber congenital amaurosis 10 1
                  Leber congenital amaurosis 11 1
                  Leber congenital amaurosis 12 1
                  Leber congenital amaurosis 13 3
                  Leber congenital amaurosis 14 1
                  Leber congenital amaurosis 15 1
                  Leber congenital amaurosis 16 2
                  Leber congenital amaurosis 17 1
                  Leber congenital amaurosis 2 1
                  Leber congenital amaurosis 3 1
                  Leber congenital amaurosis 4 1
                  Leber congenital amaurosis 5 1
                  Leber congenital amaurosis 6 2
                  Leber congenital amaurosis 7 1
                  Leber congenital amaurosis 8 1
                  Leber congenital amaurosis 9 1
                  Senior-Loken syndrome + 12
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.