Human Phenotype Ontology 
Grandparent Node:
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Abnormality of nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of vision (HP:0000504)help
Parent Node:
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Behavioral abnormality (HP:0000708)help
..Starting node
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Photophobia (HP:0000613)help
Term ID: 613
Name: Photophobia
Synonym: Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria
Definition: Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Comments:
Reference: HP:0000613
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal consumption behavior (HP:0040202) help
..expandAbnormal emotion/affect behavior (HP:0100851) help
..expandAbnormal social behavior (HP:0012433) help
..expandAbnormal temper tantrums (HP:0025160) help
..expandAddictive behavior (HP:0030858) help
..expandAutistic behavior (HP:0000729) help
..expandDelusions (HP:0000746) help
..expandDrooling (HP:0002307) help
..expandEcholalia (HP:0010529) help
..expandHallucinations (HP:0000738) help
..expandHyperorality (HP:0000710) help
..expandImpairment in personality functioning (HP:0031466) help
..expandInflexible adherence to routines or rituals (HP:0000732) help
..expandLack of insight (HP:0000757) help
..expandLack of spontaneous play (HP:0000721) help
..expandLow frustration tolerance (HP:0000744) help
..expandMania (HP:0100754) help
..expandMutism (HP:0002300) help
..expandObsessive-compulsive behavior (HP:0000722) help
..expandOppositional defiant disorder (HP:0010865) help
..expandPerseveration (HP:0030223) help
..expandPersonality changes (HP:0000751) help
..expandPseudobulbar behavioral symptoms (HP:0002193) help
..expandPsychomotor retardation (HP:0025356) help
..expandPsychosis (HP:0000709) help
..expandRestlessness (HP:0000711) help
..expandSchizophrenia (HP:0100753) help
..expandSelf-neglect (HP:0025479) help
..expandShort attention span (HP:0000736) help
..expandSleep disturbance (HP:0002360) help
..expandSound sensitivity (HP:0025112) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000613HP:0000613Photophobia0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000613HP:0000613Photophobia0ABCA4 CL E G H241872DiphalliaORPHA11280151134601691
HP:0000613HP:0000613Photophobia0ADAM9 CL E G H87541872DiphalliaORPHA111164216602713
HP:0000613HP:0000613Photophobia0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000613HP:0000613Photophobia0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000613HP:0000613Photophobia0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000613HP:0000613Photophobia0AHSG CL E G H1972850ORPHA1657349138680
HP:0000613HP:0000613Photophobia0AIPL1 CL E G H237461872DiphalliaORPHA179232359604392
HP:0000613HP:0000613Photophobia0AIRE CL E G H3263453Meier Rotschild syndromeORPHA1141417360607358
HP:0000613HP:0000613Photophobia0ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0000613HP:0000613Photophobia0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1111308403609523
HP:0000613HP:0000613Photophobia0ALMS1 CL E G H784064ORPHA13161745428606844
HP:0000613HP:0000613Photophobia0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0000613HP:0000613Photophobia0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0000613HP:0000613Photophobia0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000613HP:0000613Photophobia0AP3D1 CL E G H8943284804ORPHA1490568607246
HP:0000613HP:0000613Photophobia0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000613HP:0000613Photophobia0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000613HP:0000613Photophobia0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000613HP:0000613Photophobia0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000613HP:0000613Photophobia0ATF6 CL E G H2292649382ORPHA11694791605537
HP:0000613HP:0000613Photophobia0ATF6 CL E G H229261872DiphalliaORPHA11694791605537
HP:0000613HP:0000613Photophobia0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000613HP:0000613Photophobia0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000613HP:0000613Photophobia0C4A CL E G H720117ORPHA19271323120810
HP:0000613HP:0000613Photophobia0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000613HP:0000613Photophobia0C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM11711927232614477
HP:0000613HP:0000613Photophobia0C8orf37 CL E G H1576571872DiphalliaORPHA11711927232614477
HP:0000613HP:0000613Photophobia0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000613HP:0000613Photophobia0CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM110851375114760
HP:0000613HP:0000613Photophobia0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM1131941386608965
HP:0000613HP:0000613Photophobia0CACNA1F CL E G H7781872DiphalliaORPHA11854081393300110
HP:0000613HP:0000613Photophobia0CACNA2D4 CL E G H935891872DiphalliaORPHA1939120202608171
HP:0000613HP:0000613Photophobia0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM1939120202608171
HP:0000613HP:0000613Photophobia0CCR1 CL E G H1230117ORPHA11191602601159
HP:0000613HP:0000613Photophobia0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000613HP:0000613Photophobia0CDHR1 CL E G H922111872DiphalliaORPHA14934614550609502
HP:0000613HP:0000613Photophobia0CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM11015525740617110
HP:0000613HP:0000613Photophobia0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000613HP:0000613Photophobia0CFAP410 CL E G H755617547RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA617547C4479651OMIM11721260603191
HP:0000613HP:0000613Photophobia0CHST6 CL E G H4166217800Macular corneal dystrophy Type I217800C1636149OMIM11782516938605294
HP:0000613HP:0000613Photophobia0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000613HP:0000613Photophobia0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000613HP:0000613Photophobia0CNGA3 CL E G H126149382ORPHA11522482150600053
HP:0000613HP:0000613Photophobia0CNGA3 CL E G H1261216900Achromatopsia 2216900C1857618OMIM11522482150600053
HP:0000613HP:0000613Photophobia0CNGA3 CL E G H12611872DiphalliaORPHA11522482150600053
HP:0000613HP:0000613Photophobia0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000613HP:0000613Photophobia0CNGB3 CL E G H5471449382ORPHA11264102153605080
HP:0000613HP:0000613Photophobia0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM11264102153605080
HP:0000613HP:0000613Photophobia0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11264102153605080
HP:0000613HP:0000613Photophobia0CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM124200105607805
HP:0000613HP:0000613Photophobia0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA124200105607805
HP:0000613HP:0000613Photophobia0COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM11142592194113811
HP:0000613HP:0000613Photophobia0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000613HP:0000613Photophobia0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000613HP:0000613Photophobia0CRX CL E G H14061872DiphalliaORPHA11072982383602225
HP:0000613HP:0000613Photophobia0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11072982383602225
HP:0000613HP:0000613Photophobia0CTNS CL E G H1497411629ORPHA11604182518606272
HP:0000613HP:0000613Photophobia0CTNS CL E G H1497219750Cystinosis, ocular nonnephropathic219750C2931013OMIM11604182518606272
HP:0000613HP:0000613Photophobia0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117672718600811
HP:0000613HP:0000613Photophobia0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000613HP:0000613Photophobia0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000613HP:0000613Photophobia0DRAM2 CL E G H1283381872DiphalliaORPHA1104028769613360
HP:0000613HP:0000613Photophobia0ERAP1 CL E G H51752117ORPHA1116718173606832
HP:0000613HP:0000613Photophobia0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11082273434126340
HP:0000613HP:0000613Photophobia0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11082273434126340
HP:0000613HP:0000613Photophobia0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11404993438609413
HP:0000613HP:0000613Photophobia0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000613HP:0000613Photophobia0EYS CL E G H346007602772Retinitis pigmentosa 25602772C1864446OMIM1338106421555612424
HP:0000613HP:0000613Photophobia0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000613HP:0000613Photophobia0FAS CL E G H355117ORPHA114216911920134637
HP:0000613HP:0000613Photophobia0FOXC2 CL E G H230333001ORPHA197983801602402
HP:0000613HP:0000613Photophobia0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM197983801602402
HP:0000613HP:0000613Photophobia0FOXE3 CL E G H230188632ORPHA131863808601094
HP:0000613HP:0000613Photophobia0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000613HP:0000613Photophobia0GJB2 CL E G H2706477ORPHA14103854284121011
HP:0000613HP:0000613Photophobia0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14103854284121011
HP:0000613HP:0000613Photophobia0GJB6 CL E G H10804477ORPHA1341574288604418
HP:0000613HP:0000613Photophobia0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA1341574288604418
HP:0000613HP:0000613Photophobia0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1341574288604418
HP:0000613HP:0000613Photophobia0GNAT2 CL E G H278049382ORPHA116914394139340
HP:0000613HP:0000613Photophobia0GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM116914394139340
HP:0000613HP:0000613Photophobia0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA116914394139340
HP:0000613HP:0000613Photophobia0GNB3 CL E G H2784617024Night blindness, congenital stationary, type 1h617024C4310758OMIM19864400139130
HP:0000613HP:0000613Photophobia0GPR143 CL E G H493554ORPHA118126120145300808
HP:0000613HP:0000613Photophobia0GPR143 CL E G H4935300500Ocular albinism, type I300500C0342684OMIM118126120145300808
HP:0000613HP:0000613Photophobia0GUCA1A CL E G H2978602093Cone dystrophy 3602093C1865869OMIM1231204678600364
HP:0000613HP:0000613Photophobia0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1231204678600364
HP:0000613HP:0000613Photophobia0GUCA1A CL E G H29781872DiphalliaORPHA1231204678600364
HP:0000613HP:0000613Photophobia0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000613HP:0000613Photophobia0GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM12433884689600179
HP:0000613HP:0000613Photophobia0GUCY2D CL E G H30001872DiphalliaORPHA12433884689600179
HP:0000613HP:0000613Photophobia0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0000613HP:0000613Photophobia0HADHA CL E G H30305ORPHA1713024801600890
HP:0000613HP:0000613Photophobia0HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0000613HP:0000613Photophobia0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000613HP:0000613Photophobia0HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM19964922142600
HP:0000613HP:0000613Photophobia0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177164931142800
HP:0000613HP:0000613Photophobia0HLA-B CL E G H3106117ORPHA153174932142830
HP:0000613HP:0000613Photophobia0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000613HP:0000613Photophobia0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000613HP:0000613Photophobia0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000613HP:0000613Photophobia0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000613HP:0000613Photophobia0IL10 CL E G H3586117ORPHA121355962124092
HP:0000613HP:0000613Photophobia0IL12A CL E G H3592117ORPHA12265969161560
HP:0000613HP:0000613Photophobia0IL12A-AS1 CL E G H101928376117ORPHA113490940
HP:0000613HP:0000613Photophobia0IL23R CL E G H149233117ORPHA193719100607562
HP:0000613HP:0000613Photophobia0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000613HP:0000613Photophobia0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000613HP:0000613Photophobia0ITGB6 CL E G H36942850ORPHA17606161147558
HP:0000613HP:0000613Photophobia0ITM2B CL E G H9445616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities616079C4015146OMIM16616174603904
HP:0000613HP:0000613Photophobia0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101096259603208
HP:0000613HP:0000613Photophobia0KCNV2 CL E G H169522610356Retinal cone dystrophy 3B610356C1835897OMIM19439719698607604
HP:0000613HP:0000613Photophobia0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0000613HP:0000613Photophobia0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0000613HP:0000613Photophobia0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0000613HP:0000613Photophobia0KLRC4 CL E G H8302117ORPHA1366377602893
HP:0000613HP:0000613Photophobia0KRT12 CL E G H3859122100Meesman's corneal dystrophy122100C0339277OMIM125356414601687
HP:0000613HP:0000613Photophobia0KRT3 CL E G H3850122100Meesman's corneal dystrophy122100C0339277OMIM14266440148043
HP:0000613HP:0000613Photophobia0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241586685604863
HP:0000613HP:0000613Photophobia0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM1241586685604863
HP:0000613HP:0000613Photophobia0LRMDA CL E G H83938615179Albinism, oculocutaneous, type VII615179C3808786OMIM1112723405614537
HP:0000613HP:0000613Photophobia0LTBP2 CL E G H4053613086Glaucoma 3, primary congenital, d613086C2751316OMIM1292996715602091
HP:0000613HP:0000613Photophobia0LYST CL E G H1130167ORPHA11028071968606897
HP:0000613HP:0000613Photophobia0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0000613HP:0000613Photophobia0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241416816154235
HP:0000613HP:0000613Photophobia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM11203796893157140
HP:0000613HP:0000613Photophobia0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA12620715455300294
HP:0000613HP:0000613Photophobia0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12620715455300294
HP:0000613HP:0000613Photophobia0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12620715455300294
HP:0000613HP:0000613Photophobia0MC1R CL E G H415779432ORPHA11093326929155555
HP:0000613HP:0000613Photophobia0MCOLN1 CL E G H57192578Akesson syndromeORPHA13622813356605248
HP:0000613HP:0000613Photophobia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM13622813356605248
HP:0000613HP:0000613Photophobia0MEFV CL E G H4210117ORPHA11895616998608107
HP:0000613HP:0000613Photophobia0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1893177027604705
HP:0000613HP:0000613Photophobia0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0000613HP:0000613Photophobia0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11287745604043
HP:0000613HP:0000613Photophobia0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0000613HP:0000613Photophobia0NLRP3 CL E G H114548148200Keratitis fugax hereditaria148200C1835697OMIM114248816400606416
HP:0000613HP:0000613Photophobia0NMNAT1 CL E G H648021872DiphalliaORPHA17611217877608700
HP:0000613HP:0000613Photophobia0NOD2 CL E G H6412790340ORPHA11214425331605956
HP:0000613HP:0000613Photophobia0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1802267974604485
HP:0000613HP:0000613Photophobia0NR2E3 CL E G H10002611131Retinitis pigmentosa 37611131C1970163OMIM1802267974604485
HP:0000613HP:0000613Photophobia0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251338002162080
HP:0000613HP:0000613Photophobia0OCA2 CL E G H494879432ORPHA13165388101611409
HP:0000613HP:0000613Photophobia0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11625102567300170
HP:0000613HP:0000613Photophobia0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0000613HP:0000613Photophobia0OPN1LW CL E G H59561872DiphalliaORPHA1632509936300822
HP:0000613HP:0000613Photophobia0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0000613HP:0000613Photophobia0OPN1MW CL E G H26521872DiphalliaORPHA1212404206300821
HP:0000613HP:0000613Photophobia0OVOL2 CL E G H58495122000Posterior polymorphous corneal dystrophy 1122000CN029625OMIM142815804616441
HP:0000613HP:0000613Photophobia0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15341834383613425
HP:0000613HP:0000613Photophobia0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM11408729176740
HP:0000613HP:0000613Photophobia0PCYT1A CL E G H513085167ORPHA1201438754123695
HP:0000613HP:0000613Photophobia0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1513438785180071
HP:0000613HP:0000613Photophobia0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11334748786180072
HP:0000613HP:0000613Photophobia0PDE6C CL E G H514649382ORPHA1582208787600827
HP:0000613HP:0000613Photophobia0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM1582208787600827
HP:0000613HP:0000613Photophobia0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1582208787600827
HP:0000613HP:0000613Photophobia0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12598789180073
HP:0000613HP:0000613Photophobia0PDE6H CL E G H514949382ORPHA12608790601190
HP:0000613HP:0000613Photophobia0PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM12608790601190
HP:0000613HP:0000613Photophobia0PIKFYVE CL E G H200576121850Fleck corneal dystrophy121850C1562113OMIM11621323785609414
HP:0000613HP:0000613Photophobia0PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM1730021043608921
HP:0000613HP:0000613Photophobia0PITPNM3 CL E G H833941872DiphalliaORPHA1730021043608921
HP:0000613HP:0000613Photophobia0PITX3 CL E G H530988632ORPHA115299006602669
HP:0000613HP:0000613Photophobia0PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA112409060602142
HP:0000613HP:0000613Photophobia0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM16137916268603197
HP:0000613HP:0000613Photophobia0POC1B CL E G H2828091872DiphalliaORPHA176530836614784
HP:0000613HP:0000613Photophobia0POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM121829173312040
HP:0000613HP:0000613Photophobia0POLH CL E G H542990342ORPHA1802719181603968
HP:0000613HP:0000613Photophobia0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1802719181603968
HP:0000613HP:0000613Photophobia0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18946119139606822
HP:0000613HP:0000613Photophobia0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179232528610598
HP:0000613HP:0000613Photophobia0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1833409454604365
HP:0000613HP:0000613Photophobia0PROM1 CL E G H88421872DiphalliaORPHA1833409454604365
HP:0000613HP:0000613Photophobia0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177917348607301
HP:0000613HP:0000613Photophobia0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117523215446606419
HP:0000613HP:0000613Photophobia0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147317349607795
HP:0000613HP:0000613Photophobia0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11117015860613979
HP:0000613HP:0000613Photophobia0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15333917340607300
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11813449942179605
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H5961613105Choroidal dystrophy, central areolar 2613105C2751290OMIM11813449942179605
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H59611872DiphalliaORPHA11813449942179605
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H5961608161Macular dystrophy, vitelliform, adult-onset608161C1842914OMIM11813449942179605
HP:0000613HP:0000613Photophobia0RAB28 CL E G H93641872DiphalliaORPHA16829768612994
HP:0000613HP:0000613Photophobia0RAX2 CL E G H848391872DiphalliaORPHA1412918286610362
HP:0000613HP:0000613Photophobia0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1183779921180290
HP:0000613HP:0000613Photophobia0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110917819977608830
HP:0000613HP:0000613Photophobia0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA186930078609346
HP:0000613HP:0000613Photophobia0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111149990600342
HP:0000613HP:0000613Photophobia0RGS9 CL E G H878775374ORPHA1310410004604067
HP:0000613HP:0000613Photophobia0RGS9BP CL E G H38853175374ORPHA173830304607814
HP:0000613HP:0000613Photophobia0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121926710012180380
HP:0000613HP:0000613Photophobia0RIMS1 CL E G H229991872DiphalliaORPHA11230217282606629
HP:0000613HP:0000613Photophobia0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13713910024180090
HP:0000613HP:0000613Photophobia0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11811310254180721
HP:0000613HP:0000613Photophobia0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119045810263603937
HP:0000613HP:0000613Photophobia0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112128910274300757
HP:0000613HP:0000613Photophobia0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145010288607331
HP:0000613HP:0000613Photophobia0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120832710294180069
HP:0000613HP:0000613Photophobia0RPE65 CL E G H6121204100Leber congenital amaurosis 2204100C1859844OMIM120832710294180069
HP:0000613HP:0000613Photophobia0RPGR CL E G H610349382ORPHA124566210295312610
HP:0000613HP:0000613Photophobia0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124566210295312610
HP:0000613HP:0000613Photophobia0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0000613HP:0000613Photophobia0RPGR CL E G H61031872DiphalliaORPHA124566210295312610
HP:0000613HP:0000613Photophobia0RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM114936113436605446
HP:0000613HP:0000613Photophobia0RPGRIP1 CL E G H570961872DiphalliaORPHA114936113436605446
HP:0000613HP:0000613Photophobia0RPGRIP1 CL E G H57096613826Leber congenital amaurosis 6613826C1854260OMIM114936113436605446
HP:0000613HP:0000613Photophobia0RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM1127418647610502
HP:0000613HP:0000613Photophobia0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11613210521181031
HP:0000613HP:0000613Photophobia0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187113081611611
HP:0000613HP:0000613Photophobia0SCN1A CL E G H6323609634Familial hemiplegic migraine type 3609634C1864987OMIM11611217210585182389
HP:0000613HP:0000613Photophobia0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11714010729607292
HP:0000613HP:0000613Photophobia0SEMA4A CL E G H64218610283Cone-rod dystrophy 10610283C1846529OMIM11714010729607292
HP:0000613HP:0000613Photophobia0SEMA4A CL E G H642181872DiphalliaORPHA11714010729607292
HP:0000613HP:0000613Photophobia0SLC1A3 CL E G H6507209967ORPHA11814510941600111
HP:0000613HP:0000613Photophobia0SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM11814510941600111
HP:0000613HP:0000613Photophobia0SLC24A5 CL E G H283652370097ORPHA1264020611609802
HP:0000613HP:0000613Photophobia0SLC24A5 CL E G H283652113750Skin/hair/eye pigmentation, variation in, 4113750C2676042OMIM1264020611609802
HP:0000613HP:0000613Photophobia0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA15223617129607059
HP:0000613HP:0000613Photophobia0SLC45A2 CL E G H5115179435ORPHA116112416472606202
HP:0000613HP:0000613Photophobia0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA12520827960608893
HP:0000613HP:0000613Photophobia0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1810929326615720
HP:0000613HP:0000613Photophobia0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13529930859601664
HP:0000613HP:0000613Photophobia0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13915220423609868
HP:0000613HP:0000613Photophobia0STAT4 CL E G H6775117ORPHA165011365600558
HP:0000613HP:0000613Photophobia0TACSTD2 CL E G H4070204870Lattice corneal dystrophy Type III204870C0339273OMIM1337011530137290
HP:0000613HP:0000613Photophobia0TAT CL E G H689828378ORPHA13614011573613018
HP:0000613HP:0000613Photophobia0TGFBI CL E G H7045608470Reis-Bucklers' corneal dystrophy608470C0339278OMIM17011911771601692
HP:0000613HP:0000613Photophobia0TGFBI CL E G H7045602082Thiel-Behnke corneal dystrophy602082C1562894OMIM17011911771601692
HP:0000613HP:0000613Photophobia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0000613HP:0000613Photophobia0TLR4 CL E G H7099117ORPHA1184911850603030
HP:0000613HP:0000613Photophobia0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12222921653609507
HP:0000613HP:0000613Photophobia0TP63 CL E G H86261896Dominant cleft palateORPHA112828215979603273
HP:0000613HP:0000613Photophobia0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM112828215979603273
HP:0000613HP:0000613Photophobia0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11612820087608132
HP:0000613HP:0000613Photophobia0TTC8 CL E G H123016613464Retinitis pigmentosa 51613464C3150715OMIM11612820087608132
HP:0000613HP:0000613Photophobia0TTLL5 CL E G H230931872DiphalliaORPHA11220319963612268
HP:0000613HP:0000613Photophobia0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139812406601197
HP:0000613HP:0000613Photophobia0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17520812423602280
HP:0000613HP:0000613Photophobia0TYR CL E G H729979431ORPHA144522612442606933
HP:0000613HP:0000613Photophobia0TYR CL E G H729979434ORPHA144522612442606933
HP:0000613HP:0000613Photophobia0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0000613HP:0000613Photophobia0TYR CL E G H7299606952Oculocutaneous albinism type 1B606952C1847024OMIM144522612442606933
HP:0000613HP:0000613Photophobia0TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM144522612442606933
HP:0000613HP:0000613Photophobia0UBAC2 CL E G H337867117ORPHA1175204860
HP:0000613HP:0000613Photophobia0UNC119 CL E G H90941872DiphalliaORPHA157312565604011
HP:0000613HP:0000613Photophobia0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234235412601608400
HP:0000613HP:0000613Photophobia0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15115512814611153
HP:0000613HP:0000613Photophobia0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM110030712816613208
HP:0000613HP:0000613Photophobia0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11411220041616454
HP:0000613HP:0000613Photophobia0ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM11411220041616454
HP:0000613HP:0000613Photophobia0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312026498613598
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000613HP:0000613Photophobia0ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM01694791605537
HP:0000613HP:0000613Photophobia0ATXN7 CL E G H631494147ORPHA063110560607640
HP:0000613HP:0000613Photophobia0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM01854081393300110
HP:0000613HP:0000613Photophobia0CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM04934614550609502
HP:0000613HP:0000613Photophobia0CRYGC CL E G H1420604307Cataract, coppock-like604307C1852438OMIM028502410123680
HP:0000613HP:0000613Photophobia0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM01604182518606272
HP:0000613HP:0000613Photophobia0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA017672718600811
HP:0000613HP:0000613Photophobia0DKK1 CL E G H22943268882ORPHA04222891605189
HP:0000613HP:0000613Photophobia0DRAM2 CL E G H128338616502Cone-rod dystrophy 21616502CN231743OMIM0104028769613360
HP:0000613HP:0000613Photophobia0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01082273434126340
HP:0000613HP:0000613Photophobia0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA0201223435133510
HP:0000613HP:0000613Photophobia0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0723483436133520
HP:0000613HP:0000613Photophobia0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0592633437133530
HP:0000613HP:0000613Photophobia0HLA-B CL E G H310636426ORPHA053174932142830
HP:0000613HP:0000613Photophobia0HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM03710618817607522
HP:0000613HP:0000613Photophobia0IKZF1 CL E G H1032036426ORPHA0384213176603023
HP:0000613HP:0000613Photophobia0MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM03125918121606227
HP:0000613HP:0000613Photophobia0NMNAT1 CL E G H64802608553Leber congenital amaurosis 9608553C1837873OMIM07611217877608700
HP:0000613HP:0000613Photophobia0OPN1LW CL E G H595616ORPHA0632509936300822
HP:0000613HP:0000613Photophobia0OPN1MW CL E G H265216ORPHA0212404206300821
HP:0000613HP:0000613Photophobia0PRPH2 CL E G H5961169150Patterned dystrophy of retinal pigment epithelium169150C1868569OMIM01813449942179605
HP:0000613HP:0000613Photophobia0RAX2 CL E G H84839610381Cone-rod dystrophy 11610381C1835865OMIM0412918286610362
HP:0000613HP:0000613Photophobia0ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM0912611344606797
HP:0000613HP:0000613Photophobia0WNT10A CL E G H80326257980Odontoonychodermal dysplasia257980C0796093OMIM08419013829606268
HP:0000613HP:0000613Photophobia0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05115512814611153
HP:0000613HP:0000613Photophobia0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010030712816613208


Genes (201) :ABCA4 ADAM9 AGBL5 AHI1 AHR AHSG AIPL1 AIRE ALDH3A2 ALMS1 ANTXR1 AP3B1 AP3D1 ARHGEF18 ARL2BP ARL3 ARL6 ATF6 ATXN7 BBS2 BEST1 C4A C8ORF37 C8orf37 CA4 CABP4 CACNA1F CACNA2D4 CCR1 CDHR1 CEP78 CERKL CFAP410 CHST6 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL17A1 CRB1 CRX CRYGC CTNS DDB2 DHDDS DHX38 DKK1 DRAM2 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 EYS FAM161A FAS FOXC2 FOXE3 FSCN2 GJB2 GJB6 GNAT2 GNB3 GPR143 GUCA1A GUCA1B GUCY2D HADHA HARS HGSNAT HK1 HLA-A HLA-B HPS6 IDH3B IFT140 IFT172 IFT88 IKZF1 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG2 ITGB6 ITM2B KCNJ13 KCNV2 KIAA1549 KIZ KLHL7 KLRC4 KRT12 KRT3 LRAT LRMDA LTBP2 LYST MAK MAPT MBTPS2 MC1R MCOLN1 MEFV MERTK MFRP MITF NEK2 NLRP1 NLRP3 NMNAT1 NOD2 NR2E3 NRL OCA2 OFD1 OPN1LW OPN1MW OVOL2 PCARE PCNA PCYT1A PDE6A PDE6B PDE6C PDE6G PDE6H PIKFYVE PITPNM3 PITX3 PLCD1 PNPLA6 POC1B POLA1 POLH POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RAB28 RAX2 RBP3 RDH12 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RTN4IP1 SAG SCAPER SCN1A SEMA4A SLC1A3 SLC24A5 SLC39A4 SLC45A2 SLC6A19 SLC7A14 SNRNP200 SPATA7 ST14 STAT4 TACSTD2 TAT TGFBI TIMM8A TLR4 TOPORS TP63 TTC8 TTLL5 TUB TULP1 TYR UBAC2 UNC119 USH2A WNT10A XPA XPC ZNF408 ZNF513

Diseases (136) :791 1872 2850 3453 816 270200 64 203800 230740 608233 284804 49382 616517 94147 117 614500 600852 610427 300476 610478 613660 617236 617547 217800 216900 262300 1871 217080 1873 122400 613829 604307 411629 219750 219800 910 278740 268882 616502 601675 278730 278800 602772 33001 153400 88632 477 148210 189 129500 613856 617024 54 300500 602093 601777 204000 5 614504 617460 179 36426 614075 616079 614186 610356 122100 613341 615179 613086 167 214500 601104 2273 308205 308800 79432 578 252650 611040 103470 617388 148200 608553 90340 611131 16 303700 122000 615919 85167 613093 610024 121850 600977 2387 215470 301220 90342 278750 613105 608161 169150 610381 75374 204100 304020 608194 613826 616732 609634 610283 209967 612656 370097 113750 37 79435 2116 602400 204870 28378 608470 602082 304700 1896 604292 613464 79434 79431 606952 203100 257980 278700 278720 616469
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.