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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Central scotoma
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Accession:HP:0000603 term browser browse the term
Definition:An area of depressed vision located at the point of fixation and that interferes with central vision.
Synonyms:exact_synonym: Central blind spot;   Central scotomata
 broad_synonym: Blind spot located at fixation point
 xref: MESH:D012607;   SNOMEDCT_US:38950008;   UMLS:C0152191;   UMLS:C4280624


show annotations for term's descendants           Sort by:
Central scotoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP ClinVar Annotator: match by term: Central scotoma ClinVar
HPO		 PMID:10958761 PMID:10958763 PMID:11702214 PMID:15192030 PMID:16199547 More... OMIM:604116 ORPHA:827 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ATF6 activating transcription factor 6 IAGP HPO OMIM:616517 ORPHA:49382 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP HPO OMIM:300476 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO OMIM:617547 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP HPO ORPHA:49382 NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP HPO ORPHA:49382 ORPHA:827 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675 		JBrowse link
G CRX cone-rod homeobox IAGP HPO OMIM:120970 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP HPO ORPHA:98977 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 IAGP HPO ORPHA:41751 NCBI chr 4:186,191,567...186,213,463
Ensembl chr 4:186,191,567...186,213,463 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO OMIM:619382 ORPHA:104 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO OMIM:610708 ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO ORPHA:98977 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO ORPHA:827 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP HPO ORPHA:49382 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO OMIM:616544 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP HPO OMIM:616152 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G ITM2B integral membrane protein 2B IAGP HPO OMIM:616079 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357 		JBrowse link
G LOC111365204 CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1 IAGP HPO OMIM:136550 NCBI chr 6:99,592,885...99,593,339 JBrowse link
G MCAT malonyl-CoA-acyl carrier protein transacylase IAGP HPO OMIM:620583 NCBI chr22:43,132,206...43,143,398
Ensembl chr22:43,132,209...43,143,398 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO OMIM:620629 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO OMIM:601152 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO OMIM:616170 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:104 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:104 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:104 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:104 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:104 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:104 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:104 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP HPO ORPHA:104 NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:104 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:104 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO OMIM:615035 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MYOC myocilin IAGP HPO ORPHA:98977 NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP HPO ORPHA:104 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO OMIM:125250 OMIM:165500 ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO ORPHA:67036 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G PDE6C phosphodiesterase 6C IAGP HPO ORPHA:49382 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010 		JBrowse link
G PDE6H phosphodiesterase 6H IAGP HPO ORPHA:49382 NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865 		JBrowse link
G PITPNM3 PITPNM family member 3 IAGP HPO OMIM:600977 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555 		JBrowse link
G POC1B POC1 centriolar protein B IAGP HPO OMIM:615973 NCBI chr12:89,419,718...89,526,047
Ensembl chr12:89,419,718...89,526,047 		JBrowse link
G PROM1 prominin 1 IAGP HPO OMIM:608051 OMIM:612657 ORPHA:827 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPH2 peripherin 2 IAGP HPO ORPHA:52427 ORPHA:827 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G RAB28 RAB28, member RAS oncogene family IAGP HPO OMIM:615374 NCBI chr 4:13,367,724...13,484,340
Ensembl chr 4:13,361,354...13,484,365 		JBrowse link
G RBP3 retinol binding protein 3 IAGP HPO OMIM:615233 NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881 		JBrowse link
G RDH5 retinol dehydrogenase 5 IAGP HPO ORPHA:52427 NCBI chr12:55,720,393...55,724,705
Ensembl chr12:55,720,367...55,724,705 		JBrowse link
G RHO rhodopsin IAGP HPO ORPHA:52427 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP HPO OMIM:607476 ORPHA:52427 ORPHA:85128 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP HPO OMIM:312600 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:49382 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RTN4IP1 reticulon 4 interacting protein 1 IAGP HPO OMIM:616732 NCBI chr 6:106,570,771...106,630,491
Ensembl chr 6:106,570,771...106,629,498 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TMEM126A transmembrane protein 126A IAGP HPO OMIM:612989 NCBI chr11:85,647,967...85,656,542
Ensembl chr11:85,647,967...85,656,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the eye 3514
        Abnormal eye physiology 2648
          Abnormality of vision 1392
            Visual impairment 1172
              Visual field defect 313
                Scotoma 90
                  Central scotoma 54
paths to the root