Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormal visual electrophysiology (HP:0030453)help
..Starting node
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Abnormal electroretinogram (HP:0000512)help
Term ID: 512
Name: Abnormal electroretinogram
Synonym: Abnormal electroretinography; Abnormal ERG; ERG abnormal
Definition: Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Comments:
Reference: HP:0000512
Genes and Diseases:
 
       Child Nodes:
........expandUndetectable electroretinogram (HP:0000550) help
........expandAbnormal full-field electroretinogram (HP:0030466) help
................... HP:0008275 Abnormal light-adapted electroretinogram
................... HP:0008323 Abnormal light- and dark-adapted electroretinogram
................... HP:0030469 Abnormal dark-adapted electroretinogram
........expandAbnormal pattern electroretinogram (HP:0030467) help
................... HP:0030485 Abnormal amplitude of pattern electroretinogram
................... HP:0030486 Abnormal timing of pattern electroretinogram
................... HP:0030487 Abnormal P50/N95 ratio of pattern electroretinogram
................... HP:0030844 Undetectable pattern electroretinogram
........expandAbnormal multifocal electroretinogram (HP:0030468) help
................... HP:0030488 Abnormal central response of multifocal electroretinogram
................... HP:0030489 Abnormal paracentral response of multifocal electroretinogram

 Sister Nodes: 
..expandAbnormal electrooculogram (HP:0030454) help
..expandAbnormality of visual evoked potentials (HP:0000649) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000512HP:0000512Abnormal electroretinogram0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280211234601691
HP:0000512HP:0000512Abnormal electroretinogram0ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280211234601691
HP:0000512HP:0000512Abnormal electroretinogram0ACOX1 CL E G H512971ORPHA126384119609751
HP:0000512HP:0000512Abnormal electroretinogram0ADGRV1 CL E G H84059231178ORPHA1249240517416602851
HP:0000512HP:0000512Abnormal electroretinogram0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1926526147615900
HP:0000512HP:0000512Abnormal electroretinogram0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19663421575608894
HP:0000512HP:0000512Abnormal electroretinogram0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19663421575608894
HP:0000512HP:0000512Abnormal electroretinogram0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14204348600253
HP:0000512HP:0000512Abnormal electroretinogram0AIPL1 CL E G H2374665ORPHA179312359604392
HP:0000512HP:0000512Abnormal electroretinogram0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1737617090616432
HP:0000512HP:0000512Abnormal electroretinogram0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA155117146615407
HP:0000512HP:0000512Abnormal electroretinogram0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1363694604695
HP:0000512HP:0000512Abnormal electroretinogram0ARL6 CL E G H84100110ORPHA12110913210608845
HP:0000512HP:0000512Abnormal electroretinogram0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12110913210608845
HP:0000512HP:0000512Abnormal electroretinogram0ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000512HP:0000512Abnormal electroretinogram0ATF6 CL E G H2292649382ORPHA116178791605537
HP:0000512HP:0000512Abnormal electroretinogram0BBIP1 CL E G H92482110ORPHA115928093613605
HP:0000512HP:0000512Abnormal electroretinogram0BBS1 CL E G H582110ORPHA1105489966209901
HP:0000512HP:0000512Abnormal electroretinogram0BBS10 CL E G H79738110ORPHA110943826291610148
HP:0000512HP:0000512Abnormal electroretinogram0BBS12 CL E G H166379110ORPHA16135126648610683
HP:0000512HP:0000512Abnormal electroretinogram0BBS2 CL E G H583110ORPHA196478967606151
HP:0000512HP:0000512Abnormal electroretinogram0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196478967606151
HP:0000512HP:0000512Abnormal electroretinogram0BBS4 CL E G H585110ORPHA154298969600374
HP:0000512HP:0000512Abnormal electroretinogram0BBS5 CL E G H129880110ORPHA131145970603650
HP:0000512HP:0000512Abnormal electroretinogram0BBS7 CL E G H55212110ORPHA14425118758607590
HP:0000512HP:0000512Abnormal electroretinogram0BBS9 CL E G H27241110ORPHA15342430000607968
HP:0000512HP:0000512Abnormal electroretinogram0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram0C8orf37 CL E G H157657110ORPHA11727232614477
HP:0000512HP:0000512Abnormal electroretinogram0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11727232614477
HP:0000512HP:0000512Abnormal electroretinogram0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1101411375114760
HP:0000512HP:0000512Abnormal electroretinogram0CACNA1F CL E G H778178333ORPHA11856521393300110
HP:0000512HP:0000512Abnormal electroretinogram0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM1122331482602537
HP:0000512HP:0000512Abnormal electroretinogram0CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0000512HP:0000512Abnormal electroretinogram0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14949514550609502
HP:0000512HP:0000512Abnormal electroretinogram0CEP290 CL E G H80184110ORPHA1310151729021610142
HP:0000512HP:0000512Abnormal electroretinogram0CEP290 CL E G H8018465ORPHA1310151729021610142
HP:0000512HP:0000512Abnormal electroretinogram0CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000512HP:0000512Abnormal electroretinogram0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13942321699608381
HP:0000512HP:0000512Abnormal electroretinogram0CHM CL E G H1121180ORPHA12885511940300390
HP:0000512HP:0000512Abnormal electroretinogram0CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0000512HP:0000512Abnormal electroretinogram0CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000512HP:0000512Abnormal electroretinogram0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13923912605606397
HP:0000512HP:0000512Abnormal electroretinogram0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1332432148123825
HP:0000512HP:0000512Abnormal electroretinogram0CNGA3 CL E G H126149382ORPHA11523972150600053
HP:0000512HP:0000512Abnormal electroretinogram0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1626392151600724
HP:0000512HP:0000512Abnormal electroretinogram0CNGB3 CL E G H5471449382ORPHA11265892153605080
HP:0000512HP:0000512Abnormal electroretinogram0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11265892153605080
HP:0000512HP:0000512Abnormal electroretinogram0CRB1 CL E G H2341865ORPHA13478902343604210
HP:0000512HP:0000512Abnormal electroretinogram0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13478902343604210
HP:0000512HP:0000512Abnormal electroretinogram0CRX CL E G H140665ORPHA11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram0CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1819920603608172
HP:0000512HP:0000512Abnormal electroretinogram0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1232817211605584
HP:0000512HP:0000512Abnormal electroretinogram0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338204721555612424
HP:0000512HP:0000512Abnormal electroretinogram0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12036225808613596
HP:0000512HP:0000512Abnormal electroretinogram0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1152753960607643
HP:0000512HP:0000512Abnormal electroretinogram0GDF6 CL E G H39225565ORPHA1212114221601147
HP:0000512HP:0000512Abnormal electroretinogram0GNAT2 CL E G H278049382ORPHA1161314394139340
HP:0000512HP:0000512Abnormal electroretinogram0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA1161314394139340
HP:0000512HP:0000512Abnormal electroretinogram0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM1101274401604447
HP:0000512HP:0000512Abnormal electroretinogram0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1231564678600364
HP:0000512HP:0000512Abnormal electroretinogram0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171324679602275
HP:0000512HP:0000512Abnormal electroretinogram0GUCY2D CL E G H300065ORPHA12435884689600179
HP:0000512HP:0000512Abnormal electroretinogram0HADHA CL E G H30305ORPHA1714734801600890
HP:0000512HP:0000512Abnormal electroretinogram0HARS CL E G H3035231183ORPHA1134816142810
HP:0000512HP:0000512Abnormal electroretinogram0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17259026527610453
HP:0000512HP:0000512Abnormal electroretinogram0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141595385604526
HP:0000512HP:0000512Abnormal electroretinogram0IFT140 CL E G H974265ORPHA17283729077614620
HP:0000512HP:0000512Abnormal electroretinogram0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17283729077614620
HP:0000512HP:0000512Abnormal electroretinogram0IFT172 CL E G H26160110ORPHA12757130391607386
HP:0000512HP:0000512Abnormal electroretinogram0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12757130391607386
HP:0000512HP:0000512Abnormal electroretinogram0IFT27 CL E G H11020110ORPHA148018626615870
HP:0000512HP:0000512Abnormal electroretinogram0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166020606600595
HP:0000512HP:0000512Abnormal electroretinogram0IMPDH1 CL E G H361465ORPHA1242826052146690
HP:0000512HP:0000512Abnormal electroretinogram0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242826052146690
HP:0000512HP:0000512Abnormal electroretinogram0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14249318362607056
HP:0000512HP:0000512Abnormal electroretinogram0IQCB1 CL E G H965765ORPHA14327428949609237
HP:0000512HP:0000512Abnormal electroretinogram0KCNJ13 CL E G H376965ORPHA1101466259603208
HP:0000512HP:0000512Abnormal electroretinogram0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1960922219613344
HP:0000512HP:0000512Abnormal electroretinogram0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1418215865615757
HP:0000512HP:0000512Abnormal electroretinogram0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11417415646611119
HP:0000512HP:0000512Abnormal electroretinogram0LCA5 CL E G H16769165ORPHA14937231923611408
HP:0000512HP:0000512Abnormal electroretinogram0LRAT CL E G H922765ORPHA1241826685604863
HP:0000512HP:0000512Abnormal electroretinogram0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241826685604863
HP:0000512HP:0000512Abnormal electroretinogram0LZTFL1 CL E G H54585110ORPHA13686741606568
HP:0000512HP:0000512Abnormal electroretinogram0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242416816154235
HP:0000512HP:0000512Abnormal electroretinogram0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894617027604705
HP:0000512HP:0000512Abnormal electroretinogram0MKKS CL E G H8195110ORPHA1602497108604896
HP:0000512HP:0000512Abnormal electroretinogram0MKS1 CL E G H54903110ORPHA1524737121609883
HP:0000512HP:0000512Abnormal electroretinogram0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000512HP:0000512Abnormal electroretinogram0MYO7A CL E G H4647231169ORPHA152721647606276903
HP:0000512HP:0000512Abnormal electroretinogram0MYO7A CL E G H4647231178ORPHA152721647606276903
HP:0000512HP:0000512Abnormal electroretinogram0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11397745604043
HP:0000512HP:0000512Abnormal electroretinogram0NMNAT1 CL E G H6480265ORPHA17614417877608700
HP:0000512HP:0000512Abnormal electroretinogram0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM13798367883600276
HP:0000512HP:0000512Abnormal electroretinogram0NPHP1 CL E G H4867110ORPHA1795257905607100
HP:0000512HP:0000512Abnormal electroretinogram0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1803627974604485
HP:0000512HP:0000512Abnormal electroretinogram0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251648002162080
HP:0000512HP:0000512Abnormal electroretinogram0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11626332567300170
HP:0000512HP:0000512Abnormal electroretinogram0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15360334383613425
HP:0000512HP:0000512Abnormal electroretinogram0PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM15360334383613425
HP:0000512HP:0000512Abnormal electroretinogram0PCDH15 CL E G H65217231169ORPHA1122169214674605514
HP:0000512HP:0000512Abnormal electroretinogram0PCYT1A CL E G H513065ORPHA1202068754123695
HP:0000512HP:0000512Abnormal electroretinogram0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1514938785180071
HP:0000512HP:0000512Abnormal electroretinogram0PDE6A CL E G H5145613810Retinitis pigmentosa 43613810C3151139OMIM1514938785180071
HP:0000512HP:0000512Abnormal electroretinogram0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11336938786180072
HP:0000512HP:0000512Abnormal electroretinogram0PDE6C CL E G H514649382ORPHA1583298787600827
HP:0000512HP:0000512Abnormal electroretinogram0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1583298787600827
HP:0000512HP:0000512Abnormal electroretinogram0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12708789180073
HP:0000512HP:0000512Abnormal electroretinogram0PDE6H CL E G H514949382ORPHA12748790601190
HP:0000512HP:0000512Abnormal electroretinogram0PDZD7 CL E G H79955231178ORPHA11942026257612971
HP:0000512HP:0000512Abnormal electroretinogram0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11407828850602136
HP:0000512HP:0000512Abnormal electroretinogram0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM1372408854601758
HP:0000512HP:0000512Abnormal electroretinogram0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM11217225712611655
HP:0000512HP:0000512Abnormal electroretinogram0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13263426270613629
HP:0000512HP:0000512Abnormal electroretinogram0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13263426270613629
HP:0000512HP:0000512Abnormal electroretinogram0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA16166616268603197
HP:0000512HP:0000512Abnormal electroretinogram0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15434618801614787
HP:0000512HP:0000512Abnormal electroretinogram0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18965219139606822
HP:0000512HP:0000512Abnormal electroretinogram0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1710032528610598
HP:0000512HP:0000512Abnormal electroretinogram0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1835039454604365
HP:0000512HP:0000512Abnormal electroretinogram0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1716417348607301
HP:0000512HP:0000512Abnormal electroretinogram0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117529115446606419
HP:0000512HP:0000512Abnormal electroretinogram0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1412617349607795
HP:0000512HP:0000512Abnormal electroretinogram0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11127215860613979
HP:0000512HP:0000512Abnormal electroretinogram0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15358217340607300
HP:0000512HP:0000512Abnormal electroretinogram0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11815259942179605
HP:0000512HP:0000512Abnormal electroretinogram0PRPH2 CL E G H5961608133Retinitis pigmentosa 7608133C1842475OMIM11815259942179605
HP:0000512HP:0000512Abnormal electroretinogram0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1185839921180290
HP:0000512HP:0000512Abnormal electroretinogram0RD3 CL E G H34303565ORPHA11319219689180040
HP:0000512HP:0000512Abnormal electroretinogram0RDH12 CL E G H14522665ORPHA110929519977608830
HP:0000512HP:0000512Abnormal electroretinogram0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110929519977608830
HP:0000512HP:0000512Abnormal electroretinogram0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1814030078609346
HP:0000512HP:0000512Abnormal electroretinogram0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111579990600342
HP:0000512HP:0000512Abnormal electroretinogram0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121936610012180380
HP:0000512HP:0000512Abnormal electroretinogram0RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0000512HP:0000512Abnormal electroretinogram0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13720010024180090
HP:0000512HP:0000512Abnormal electroretinogram0RLBP1 CL E G H6017607475Bothnia retinal dystrophy607475C1843816OMIM13720010024180090
HP:0000512HP:0000512Abnormal electroretinogram0RNF216 CL E G H544761173CDG syndrome type 3ORPHA11413021698609948
HP:0000512HP:0000512Abnormal electroretinogram0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11816710254180721
HP:0000512HP:0000512Abnormal electroretinogram0ROM1 CL E G H6094608133Retinitis pigmentosa 7608133C1842475OMIM11816710254180721
HP:0000512HP:0000512Abnormal electroretinogram0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119068410263603937
HP:0000512HP:0000512Abnormal electroretinogram0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112134610274300757
HP:0000512HP:0000512Abnormal electroretinogram0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145110288607331
HP:0000512HP:0000512Abnormal electroretinogram0RPE65 CL E G H612165ORPHA120849610294180069
HP:0000512HP:0000512Abnormal electroretinogram0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120849610294180069
HP:0000512HP:0000512Abnormal electroretinogram0RPGR CL E G H610349382ORPHA124579810295312610
HP:0000512HP:0000512Abnormal electroretinogram0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124579810295312610
HP:0000512HP:0000512Abnormal electroretinogram0RPGRIP1 CL E G H5709665ORPHA114956513436605446
HP:0000512HP:0000512Abnormal electroretinogram0RS1 CL E G H6247792ORPHA127954810457300839
HP:0000512HP:0000512Abnormal electroretinogram0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11623010521181031
HP:0000512HP:0000512Abnormal electroretinogram0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187413081611611
HP:0000512HP:0000512Abnormal electroretinogram0SDCCAG8 CL E G H10806110ORPHA11834610671613524
HP:0000512HP:0000512Abnormal electroretinogram0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11723810729607292
HP:0000512HP:0000512Abnormal electroretinogram0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1821629326615720
HP:0000512HP:0000512Abnormal electroretinogram0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13549130859601664
HP:0000512HP:0000512Abnormal electroretinogram0SPATA7 CL E G H5581265ORPHA13922920423609868
HP:0000512HP:0000512Abnormal electroretinogram0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13922920423609868
HP:0000512HP:0000512Abnormal electroretinogram0SUCLA2 CL E G H88031933ORPHA12923711448603921
HP:0000512HP:0000512Abnormal electroretinogram0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12220011817300356
HP:0000512HP:0000512Abnormal electroretinogram0TIMP3 CL E G H7078136900Sorsby fundus dystrophy136900C1850938OMIM12119811822188826
HP:0000512HP:0000512Abnormal electroretinogram0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12230821653609507
HP:0000512HP:0000512Abnormal electroretinogram0TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM12230821653609507
HP:0000512HP:0000512Abnormal electroretinogram0TRIM32 CL E G H22954110ORPHA11640616380602290
HP:0000512HP:0000512Abnormal electroretinogram0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1848207146603576
HP:0000512HP:0000512Abnormal electroretinogram0TTC8 CL E G H123016110ORPHA11620220087608132
HP:0000512HP:0000512Abnormal electroretinogram0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11620220087608132
HP:0000512HP:0000512Abnormal electroretinogram0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1320012406601197
HP:0000512HP:0000512Abnormal electroretinogram0TULP1 CL E G H728765ORPHA17531012423602280
HP:0000512HP:0000512Abnormal electroretinogram0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17531012423602280
HP:0000512HP:0000512Abnormal electroretinogram0USH1C CL E G H10083231169ORPHA15172612597605242
HP:0000512HP:0000512Abnormal electroretinogram0USH1G CL E G H124590231169ORPHA13224216356607696
HP:0000512HP:0000512Abnormal electroretinogram0USH2A CL E G H7399231178ORPHA11234402412601608400
HP:0000512HP:0000512Abnormal electroretinogram0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234402412601608400
HP:0000512HP:0000512Abnormal electroretinogram0USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM11234402412601608400
HP:0000512HP:0000512Abnormal electroretinogram0VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410512723605020
HP:0000512HP:0000512Abnormal electroretinogram0WDPCP CL E G H51057110ORPHA1827328027613580
HP:0000512HP:0000512Abnormal electroretinogram0WHRN CL E G H25861231178ORPHA13249616361607928
HP:0000512HP:0000512Abnormal electroretinogram0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421820041616454
HP:0000512HP:0000512Abnormal electroretinogram0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1318826498613598
HP:0000512HP:0000512Abnormal electroretinogram1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280211234601691
HP:0000512HP:0000512Abnormal electroretinogram1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280211234601691
HP:0000512HP:0000512Abnormal electroretinogram1ACOX1 CL E G H512971ORPHA126384119609751
HP:0000512HP:0000512Abnormal electroretinogram1ADGRV1 CL E G H84059231178ORPHA1249240517416602851
HP:0000512HP:0000512Abnormal electroretinogram1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1926526147615900
HP:0000512HP:0000512Abnormal electroretinogram1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19663421575608894
HP:0000512HP:0000512Abnormal electroretinogram1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19663421575608894
HP:0000512HP:0000512Abnormal electroretinogram1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14204348600253
HP:0000512HP:0000512Abnormal electroretinogram1AIPL1 CL E G H2374665ORPHA179312359604392
HP:0000512HP:0000512Abnormal electroretinogram1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1737617090616432
HP:0000512HP:0000512Abnormal electroretinogram1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA155117146615407
HP:0000512HP:0000512Abnormal electroretinogram1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1363694604695
HP:0000512HP:0000512Abnormal electroretinogram1ARL6 CL E G H84100110ORPHA12110913210608845
HP:0000512HP:0000512Abnormal electroretinogram1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12110913210608845
HP:0000512HP:0000512Abnormal electroretinogram1ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000512HP:0000512Abnormal electroretinogram1ATF6 CL E G H2292649382ORPHA116178791605537
HP:0000512HP:0000512Abnormal electroretinogram1BBIP1 CL E G H92482110ORPHA115928093613605
HP:0000512HP:0000512Abnormal electroretinogram1BBS1 CL E G H582110ORPHA1105489966209901
HP:0000512HP:0000512Abnormal electroretinogram1BBS10 CL E G H79738110ORPHA110943826291610148
HP:0000512HP:0000512Abnormal electroretinogram1BBS12 CL E G H166379110ORPHA16135126648610683
HP:0000512HP:0000512Abnormal electroretinogram1BBS2 CL E G H583110ORPHA196478967606151
HP:0000512HP:0000512Abnormal electroretinogram1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196478967606151
HP:0000512HP:0000512Abnormal electroretinogram1BBS4 CL E G H585110ORPHA154298969600374
HP:0000512HP:0000512Abnormal electroretinogram1BBS5 CL E G H129880110ORPHA131145970603650
HP:0000512HP:0000512Abnormal electroretinogram1BBS7 CL E G H55212110ORPHA14425118758607590
HP:0000512HP:0000512Abnormal electroretinogram1BBS9 CL E G H27241110ORPHA15342430000607968
HP:0000512HP:0000512Abnormal electroretinogram1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram1C8orf37 CL E G H157657110ORPHA11727232614477
HP:0000512HP:0000512Abnormal electroretinogram1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11727232614477
HP:0000512HP:0000512Abnormal electroretinogram1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1101411375114760
HP:0000512HP:0000512Abnormal electroretinogram1CACNA1F CL E G H778178333ORPHA11856521393300110
HP:0000512HP:0000512Abnormal electroretinogram1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM1122331482602537
HP:0000512HP:0000512Abnormal electroretinogram1CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0000512HP:0000512Abnormal electroretinogram1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14949514550609502
HP:0000512HP:0000512Abnormal electroretinogram1CEP290 CL E G H80184110ORPHA1310151729021610142
HP:0000512HP:0000512Abnormal electroretinogram1CEP290 CL E G H8018465ORPHA1310151729021610142
HP:0000512HP:0000512Abnormal electroretinogram1CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000512HP:0000512Abnormal electroretinogram1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13942321699608381
HP:0000512HP:0000512Abnormal electroretinogram1CHM CL E G H1121180ORPHA12885511940300390
HP:0000512HP:0000512Abnormal electroretinogram1CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0000512HP:0000512Abnormal electroretinogram1CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000512HP:0000512Abnormal electroretinogram1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13923912605606397
HP:0000512HP:0000512Abnormal electroretinogram1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1332432148123825
HP:0000512HP:0000512Abnormal electroretinogram1CNGA3 CL E G H126149382ORPHA11523972150600053
HP:0000512HP:0000512Abnormal electroretinogram1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1626392151600724
HP:0000512HP:0000512Abnormal electroretinogram1CNGB3 CL E G H5471449382ORPHA11265892153605080
HP:0000512HP:0000512Abnormal electroretinogram1CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11265892153605080
HP:0000512HP:0000512Abnormal electroretinogram1CRB1 CL E G H2341865ORPHA13478902343604210
HP:0000512HP:0000512Abnormal electroretinogram1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13478902343604210
HP:0000512HP:0000512Abnormal electroretinogram1CRX CL E G H140665ORPHA11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram1CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1819920603608172
HP:0000512HP:0000512Abnormal electroretinogram1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1232817211605584
HP:0000512HP:0000512Abnormal electroretinogram1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338204721555612424
HP:0000512HP:0000512Abnormal electroretinogram1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12036225808613596
HP:0000512HP:0000512Abnormal electroretinogram1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1152753960607643
HP:0000512HP:0000512Abnormal electroretinogram1GDF6 CL E G H39225565ORPHA1212114221601147
HP:0000512HP:0000512Abnormal electroretinogram1GNAT2 CL E G H278049382ORPHA1161314394139340
HP:0000512HP:0000512Abnormal electroretinogram1GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA1161314394139340
HP:0000512HP:0000512Abnormal electroretinogram1GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM1101274401604447
HP:0000512HP:0000512Abnormal electroretinogram1GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1231564678600364
HP:0000512HP:0000512Abnormal electroretinogram1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171324679602275
HP:0000512HP:0000512Abnormal electroretinogram1GUCY2D CL E G H300065ORPHA12435884689600179
HP:0000512HP:0000512Abnormal electroretinogram1HADHA CL E G H30305ORPHA1714734801600890
HP:0000512HP:0000512Abnormal electroretinogram1HARS CL E G H3035231183ORPHA1134816142810
HP:0000512HP:0000512Abnormal electroretinogram1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17259026527610453
HP:0000512HP:0000512Abnormal electroretinogram1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141595385604526
HP:0000512HP:0000512Abnormal electroretinogram1IFT140 CL E G H974265ORPHA17283729077614620
HP:0000512HP:0000512Abnormal electroretinogram1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17283729077614620
HP:0000512HP:0000512Abnormal electroretinogram1IFT172 CL E G H26160110ORPHA12757130391607386
HP:0000512HP:0000512Abnormal electroretinogram1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12757130391607386
HP:0000512HP:0000512Abnormal electroretinogram1IFT27 CL E G H11020110ORPHA148018626615870
HP:0000512HP:0000512Abnormal electroretinogram1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166020606600595
HP:0000512HP:0000512Abnormal electroretinogram1IMPDH1 CL E G H361465ORPHA1242826052146690
HP:0000512HP:0000512Abnormal electroretinogram1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242826052146690
HP:0000512HP:0000512Abnormal electroretinogram1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14249318362607056
HP:0000512HP:0000512Abnormal electroretinogram1IQCB1 CL E G H965765ORPHA14327428949609237
HP:0000512HP:0000512Abnormal electroretinogram1KCNJ13 CL E G H376965ORPHA1101466259603208
HP:0000512HP:0000512Abnormal electroretinogram1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1960922219613344
HP:0000512HP:0000512Abnormal electroretinogram1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1418215865615757
HP:0000512HP:0000512Abnormal electroretinogram1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11417415646611119
HP:0000512HP:0000512Abnormal electroretinogram1LCA5 CL E G H16769165ORPHA14937231923611408
HP:0000512HP:0000512Abnormal electroretinogram1LRAT CL E G H922765ORPHA1241826685604863
HP:0000512HP:0000512Abnormal electroretinogram1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241826685604863
HP:0000512HP:0000512Abnormal electroretinogram1LZTFL1 CL E G H54585110ORPHA13686741606568
HP:0000512HP:0000512Abnormal electroretinogram1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242416816154235
HP:0000512HP:0000512Abnormal electroretinogram1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894617027604705
HP:0000512HP:0000512Abnormal electroretinogram1MKKS CL E G H8195110ORPHA1602497108604896
HP:0000512HP:0000512Abnormal electroretinogram1MKS1 CL E G H54903110ORPHA1524737121609883
HP:0000512HP:0000512Abnormal electroretinogram1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000512HP:0000512Abnormal electroretinogram1MYO7A CL E G H4647231178ORPHA152721647606276903
HP:0000512HP:0000512Abnormal electroretinogram1MYO7A CL E G H4647231169ORPHA152721647606276903
HP:0000512HP:0000512Abnormal electroretinogram1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11397745604043
HP:0000512HP:0000512Abnormal electroretinogram1NMNAT1 CL E G H6480265ORPHA17614417877608700
HP:0000512HP:0000512Abnormal electroretinogram1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM13798367883600276
HP:0000512HP:0000512Abnormal electroretinogram1NPHP1 CL E G H4867110ORPHA1795257905607100
HP:0000512HP:0000512Abnormal electroretinogram1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1803627974604485
HP:0000512HP:0000512Abnormal electroretinogram1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251648002162080
HP:0000512HP:0000512Abnormal electroretinogram1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11626332567300170
HP:0000512HP:0000512Abnormal electroretinogram1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15360334383613425
HP:0000512HP:0000512Abnormal electroretinogram1PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM15360334383613425
HP:0000512HP:0000512Abnormal electroretinogram1PCDH15 CL E G H65217231169ORPHA1122169214674605514
HP:0000512HP:0000512Abnormal electroretinogram1PCYT1A CL E G H513065ORPHA1202068754123695
HP:0000512HP:0000512Abnormal electroretinogram1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1514938785180071
HP:0000512HP:0000512Abnormal electroretinogram1PDE6A CL E G H5145613810Retinitis pigmentosa 43613810C3151139OMIM1514938785180071
HP:0000512HP:0000512Abnormal electroretinogram1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11336938786180072
HP:0000512HP:0000512Abnormal electroretinogram1PDE6C CL E G H514649382ORPHA1583298787600827
HP:0000512HP:0000512Abnormal electroretinogram1PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1583298787600827
HP:0000512HP:0000512Abnormal electroretinogram1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12708789180073
HP:0000512HP:0000512Abnormal electroretinogram1PDE6H CL E G H514949382ORPHA12748790601190
HP:0000512HP:0000512Abnormal electroretinogram1PDZD7 CL E G H79955231178ORPHA11942026257612971
HP:0000512HP:0000512Abnormal electroretinogram1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11407828850602136
HP:0000512HP:0000512Abnormal electroretinogram1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM1372408854601758
HP:0000512HP:0000512Abnormal electroretinogram1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM11217225712611655
HP:0000512HP:0000512Abnormal electroretinogram1PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13263426270613629
HP:0000512HP:0000512Abnormal electroretinogram1PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13263426270613629
HP:0000512HP:0000512Abnormal electroretinogram1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA16166616268603197
HP:0000512HP:0000512Abnormal electroretinogram1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15434618801614787
HP:0000512HP:0000512Abnormal electroretinogram1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18965219139606822
HP:0000512HP:0000512Abnormal electroretinogram1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1710032528610598
HP:0000512HP:0000512Abnormal electroretinogram1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1835039454604365
HP:0000512HP:0000512Abnormal electroretinogram1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1716417348607301
HP:0000512HP:0000512Abnormal electroretinogram1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117529115446606419
HP:0000512HP:0000512Abnormal electroretinogram1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1412617349607795
HP:0000512HP:0000512Abnormal electroretinogram1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11127215860613979
HP:0000512HP:0000512Abnormal electroretinogram1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15358217340607300
HP:0000512HP:0000512Abnormal electroretinogram1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11815259942179605
HP:0000512HP:0000512Abnormal electroretinogram1PRPH2 CL E G H5961608133Retinitis pigmentosa 7608133C1842475OMIM11815259942179605
HP:0000512HP:0000512Abnormal electroretinogram1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1185839921180290
HP:0000512HP:0000512Abnormal electroretinogram1RD3 CL E G H34303565ORPHA11319219689180040
HP:0000512HP:0000512Abnormal electroretinogram1RDH12 CL E G H14522665ORPHA110929519977608830
HP:0000512HP:0000512Abnormal electroretinogram1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110929519977608830
HP:0000512HP:0000512Abnormal electroretinogram1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1814030078609346
HP:0000512HP:0000512Abnormal electroretinogram1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111579990600342
HP:0000512HP:0000512Abnormal electroretinogram1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121936610012180380
HP:0000512HP:0000512Abnormal electroretinogram1RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0000512HP:0000512Abnormal electroretinogram1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13720010024180090
HP:0000512HP:0000512Abnormal electroretinogram1RLBP1 CL E G H6017607475Bothnia retinal dystrophy607475C1843816OMIM13720010024180090
HP:0000512HP:0000512Abnormal electroretinogram1RNF216 CL E G H544761173CDG syndrome type 3ORPHA11413021698609948
HP:0000512HP:0000512Abnormal electroretinogram1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11816710254180721
HP:0000512HP:0000512Abnormal electroretinogram1ROM1 CL E G H6094608133Retinitis pigmentosa 7608133C1842475OMIM11816710254180721
HP:0000512HP:0000512Abnormal electroretinogram1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119068410263603937
HP:0000512HP:0000512Abnormal electroretinogram1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112134610274300757
HP:0000512HP:0000512Abnormal electroretinogram1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145110288607331
HP:0000512HP:0000512Abnormal electroretinogram1RPE65 CL E G H612165ORPHA120849610294180069
HP:0000512HP:0000512Abnormal electroretinogram1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120849610294180069
HP:0000512HP:0000512Abnormal electroretinogram1RPGR CL E G H610349382ORPHA124579810295312610
HP:0000512HP:0000512Abnormal electroretinogram1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124579810295312610
HP:0000512HP:0000512Abnormal electroretinogram1RPGRIP1 CL E G H5709665ORPHA114956513436605446
HP:0000512HP:0000512Abnormal electroretinogram1RS1 CL E G H6247792ORPHA127954810457300839
HP:0000512HP:0000512Abnormal electroretinogram1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11623010521181031
HP:0000512HP:0000512Abnormal electroretinogram1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187413081611611
HP:0000512HP:0000512Abnormal electroretinogram1SDCCAG8 CL E G H10806110ORPHA11834610671613524
HP:0000512HP:0000512Abnormal electroretinogram1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11723810729607292
HP:0000512HP:0000512Abnormal electroretinogram1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1821629326615720
HP:0000512HP:0000512Abnormal electroretinogram1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13549130859601664
HP:0000512HP:0000512Abnormal electroretinogram1SPATA7 CL E G H5581265ORPHA13922920423609868
HP:0000512HP:0000512Abnormal electroretinogram1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13922920423609868
HP:0000512HP:0000512Abnormal electroretinogram1SUCLA2 CL E G H88031933ORPHA12923711448603921
HP:0000512HP:0000512Abnormal electroretinogram1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12220011817300356
HP:0000512HP:0000512Abnormal electroretinogram1TIMP3 CL E G H7078136900Sorsby fundus dystrophy136900C1850938OMIM12119811822188826
HP:0000512HP:0000512Abnormal electroretinogram1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12230821653609507
HP:0000512HP:0000512Abnormal electroretinogram1TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM12230821653609507
HP:0000512HP:0000512Abnormal electroretinogram1TRIM32 CL E G H22954110ORPHA11640616380602290
HP:0000512HP:0000512Abnormal electroretinogram1TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1848207146603576
HP:0000512HP:0000512Abnormal electroretinogram1TTC8 CL E G H123016110ORPHA11620220087608132
HP:0000512HP:0000512Abnormal electroretinogram1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11620220087608132
HP:0000512HP:0000512Abnormal electroretinogram1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1320012406601197
HP:0000512HP:0000512Abnormal electroretinogram1TULP1 CL E G H728765ORPHA17531012423602280
HP:0000512HP:0000512Abnormal electroretinogram1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17531012423602280
HP:0000512HP:0000512Abnormal electroretinogram1USH1C CL E G H10083231169ORPHA15172612597605242
HP:0000512HP:0000512Abnormal electroretinogram1USH1G CL E G H124590231169ORPHA13224216356607696
HP:0000512HP:0000512Abnormal electroretinogram1USH2A CL E G H7399231178ORPHA11234402412601608400
HP:0000512HP:0000512Abnormal electroretinogram1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234402412601608400
HP:0000512HP:0000512Abnormal electroretinogram1USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM11234402412601608400
HP:0000512HP:0000512Abnormal electroretinogram1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410512723605020
HP:0000512HP:0000512Abnormal electroretinogram1WDPCP CL E G H51057110ORPHA1827328027613580
HP:0000512HP:0000512Abnormal electroretinogram1WHRN CL E G H25861231178ORPHA13249616361607928
HP:0000512HP:0000512Abnormal electroretinogram1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421820041616454
HP:0000512HP:0000512Abnormal electroretinogram1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1318826498613598
HP:0000512HP:0000512Abnormal electroretinogram2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280211234601691
HP:0000512HP:0000512Abnormal electroretinogram2ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280211234601691
HP:0000512HP:0000512Abnormal electroretinogram2ACOX1 CL E G H512971ORPHA126384119609751
HP:0000512HP:0000512Abnormal electroretinogram2ADGRV1 CL E G H84059231178ORPHA1249240517416602851
HP:0000512HP:0000512Abnormal electroretinogram2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1926526147615900
HP:0000512HP:0000512Abnormal electroretinogram2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19663421575608894
HP:0000512HP:0000512Abnormal electroretinogram2AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19663421575608894
HP:0000512HP:0000512Abnormal electroretinogram2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14204348600253
HP:0000512HP:0000512Abnormal electroretinogram2AIPL1 CL E G H2374665ORPHA179312359604392
HP:0000512HP:0000512Abnormal electroretinogram2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1737617090616432
HP:0000512HP:0000512Abnormal electroretinogram2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA155117146615407
HP:0000512HP:0000512Abnormal electroretinogram2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1363694604695
HP:0000512HP:0000512Abnormal electroretinogram2ARL6 CL E G H84100110ORPHA12110913210608845
HP:0000512HP:0000512Abnormal electroretinogram2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12110913210608845
HP:0000512HP:0000512Abnormal electroretinogram2ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000512HP:0000512Abnormal electroretinogram2ATF6 CL E G H2292649382ORPHA116178791605537
HP:0000512HP:0000512Abnormal electroretinogram2BBIP1 CL E G H92482110ORPHA115928093613605
HP:0000512HP:0000512Abnormal electroretinogram2BBS1 CL E G H582110ORPHA1105489966209901
HP:0000512HP:0000512Abnormal electroretinogram2BBS10 CL E G H79738110ORPHA110943826291610148
HP:0000512HP:0000512Abnormal electroretinogram2BBS12 CL E G H166379110ORPHA16135126648610683
HP:0000512HP:0000512Abnormal electroretinogram2BBS2 CL E G H583110ORPHA196478967606151
HP:0000512HP:0000512Abnormal electroretinogram2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196478967606151
HP:0000512HP:0000512Abnormal electroretinogram2BBS4 CL E G H585110ORPHA154298969600374
HP:0000512HP:0000512Abnormal electroretinogram2BBS5 CL E G H129880110ORPHA131145970603650
HP:0000512HP:0000512Abnormal electroretinogram2BBS7 CL E G H55212110ORPHA14425118758607590
HP:0000512HP:0000512Abnormal electroretinogram2BBS9 CL E G H27241110ORPHA15342430000607968
HP:0000512HP:0000512Abnormal electroretinogram2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram2BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram2BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram2C8orf37 CL E G H157657110ORPHA11727232614477
HP:0000512HP:0000512Abnormal electroretinogram2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11727232614477
HP:0000512HP:0000512Abnormal electroretinogram2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1101411375114760
HP:0000512HP:0000512Abnormal electroretinogram2CACNA1F CL E G H778178333ORPHA11856521393300110
HP:0000512HP:0000512Abnormal electroretinogram2CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM1122331482602537
HP:0000512HP:0000512Abnormal electroretinogram2CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0000512HP:0000512Abnormal electroretinogram2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14949514550609502
HP:0000512HP:0000512Abnormal electroretinogram2CEP290 CL E G H80184110ORPHA1310151729021610142
HP:0000512HP:0000512Abnormal electroretinogram2CEP290 CL E G H8018465ORPHA1310151729021610142
HP:0000512HP:0000512Abnormal electroretinogram2CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000512HP:0000512Abnormal electroretinogram2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13942321699608381
HP:0000512HP:0000512Abnormal electroretinogram2CHM CL E G H1121180ORPHA12885511940300390
HP:0000512HP:0000512Abnormal electroretinogram2CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0000512HP:0000512Abnormal electroretinogram2CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000512HP:0000512Abnormal electroretinogram2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13923912605606397
HP:0000512HP:0000512Abnormal electroretinogram2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1332432148123825
HP:0000512HP:0000512Abnormal electroretinogram2CNGA3 CL E G H126149382ORPHA11523972150600053
HP:0000512HP:0000512Abnormal electroretinogram2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1626392151600724
HP:0000512HP:0000512Abnormal electroretinogram2CNGB3 CL E G H5471449382ORPHA11265892153605080
HP:0000512HP:0000512Abnormal electroretinogram2CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11265892153605080
HP:0000512HP:0000512Abnormal electroretinogram2CRB1 CL E G H2341865ORPHA13478902343604210
HP:0000512HP:0000512Abnormal electroretinogram2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13478902343604210
HP:0000512HP:0000512Abnormal electroretinogram2CRX CL E G H140665ORPHA11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram2CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1819920603608172
HP:0000512HP:0000512Abnormal electroretinogram2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1232817211605584
HP:0000512HP:0000512Abnormal electroretinogram2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338204721555612424
HP:0000512HP:0000512Abnormal electroretinogram2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12036225808613596
HP:0000512HP:0000512Abnormal electroretinogram2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1152753960607643
HP:0000512HP:0000512Abnormal electroretinogram2GDF6 CL E G H39225565ORPHA1212114221601147
HP:0000512HP:0000512Abnormal electroretinogram2GNAT2 CL E G H278049382ORPHA1161314394139340
HP:0000512HP:0000512Abnormal electroretinogram2GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA1161314394139340
HP:0000512HP:0000512Abnormal electroretinogram2GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM1101274401604447
HP:0000512HP:0000512Abnormal electroretinogram2GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1231564678600364
HP:0000512HP:0000512Abnormal electroretinogram2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171324679602275
HP:0000512HP:0000512Abnormal electroretinogram2GUCY2D CL E G H300065ORPHA12435884689600179
HP:0000512HP:0000512Abnormal electroretinogram2HADHA CL E G H30305ORPHA1714734801600890
HP:0000512HP:0000512Abnormal electroretinogram2HARS CL E G H3035231183ORPHA1134816142810
HP:0000512HP:0000512Abnormal electroretinogram2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17259026527610453
HP:0000512HP:0000512Abnormal electroretinogram2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141595385604526
HP:0000512HP:0000512Abnormal electroretinogram2IFT140 CL E G H974265ORPHA17283729077614620
HP:0000512HP:0000512Abnormal electroretinogram2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17283729077614620
HP:0000512HP:0000512Abnormal electroretinogram2IFT172 CL E G H26160110ORPHA12757130391607386
HP:0000512HP:0000512Abnormal electroretinogram2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12757130391607386
HP:0000512HP:0000512Abnormal electroretinogram2IFT27 CL E G H11020110ORPHA148018626615870
HP:0000512HP:0000512Abnormal electroretinogram2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166020606600595
HP:0000512HP:0000512Abnormal electroretinogram2IMPDH1 CL E G H361465ORPHA1242826052146690
HP:0000512HP:0000512Abnormal electroretinogram2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242826052146690
HP:0000512HP:0000512Abnormal electroretinogram2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14249318362607056
HP:0000512HP:0000512Abnormal electroretinogram2IQCB1 CL E G H965765ORPHA14327428949609237
HP:0000512HP:0000512Abnormal electroretinogram2KCNJ13 CL E G H376965ORPHA1101466259603208
HP:0000512HP:0000512Abnormal electroretinogram2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1960922219613344
HP:0000512HP:0000512Abnormal electroretinogram2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1418215865615757
HP:0000512HP:0000512Abnormal electroretinogram2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11417415646611119
HP:0000512HP:0000512Abnormal electroretinogram2LCA5 CL E G H16769165ORPHA14937231923611408
HP:0000512HP:0000512Abnormal electroretinogram2LRAT CL E G H922765ORPHA1241826685604863
HP:0000512HP:0000512Abnormal electroretinogram2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241826685604863
HP:0000512HP:0000512Abnormal electroretinogram2LZTFL1 CL E G H54585110ORPHA13686741606568
HP:0000512HP:0000512Abnormal electroretinogram2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242416816154235
HP:0000512HP:0000512Abnormal electroretinogram2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894617027604705
HP:0000512HP:0000512Abnormal electroretinogram2MKKS CL E G H8195110ORPHA1602497108604896
HP:0000512HP:0000512Abnormal electroretinogram2MKS1 CL E G H54903110ORPHA1524737121609883
HP:0000512HP:0000512Abnormal electroretinogram2MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000512HP:0000512Abnormal electroretinogram2MYO7A CL E G H4647231178ORPHA152721647606276903
HP:0000512HP:0000512Abnormal electroretinogram2MYO7A CL E G H4647231169ORPHA152721647606276903
HP:0000512HP:0000512Abnormal electroretinogram2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11397745604043
HP:0000512HP:0000512Abnormal electroretinogram2NMNAT1 CL E G H6480265ORPHA17614417877608700
HP:0000512HP:0000512Abnormal electroretinogram2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM13798367883600276
HP:0000512HP:0000512Abnormal electroretinogram2NPHP1 CL E G H4867110ORPHA1795257905607100
HP:0000512HP:0000512Abnormal electroretinogram2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1803627974604485
HP:0000512HP:0000512Abnormal electroretinogram2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251648002162080
HP:0000512HP:0000512Abnormal electroretinogram2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11626332567300170
HP:0000512HP:0000512Abnormal electroretinogram2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15360334383613425
HP:0000512HP:0000512Abnormal electroretinogram2PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM15360334383613425
HP:0000512HP:0000512Abnormal electroretinogram2PCDH15 CL E G H65217231169ORPHA1122169214674605514
HP:0000512HP:0000512Abnormal electroretinogram2PCYT1A CL E G H513065ORPHA1202068754123695
HP:0000512HP:0000512Abnormal electroretinogram2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1514938785180071
HP:0000512HP:0000512Abnormal electroretinogram2PDE6A CL E G H5145613810Retinitis pigmentosa 43613810C3151139OMIM1514938785180071
HP:0000512HP:0000512Abnormal electroretinogram2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11336938786180072
HP:0000512HP:0000512Abnormal electroretinogram2PDE6C CL E G H514649382ORPHA1583298787600827
HP:0000512HP:0000512Abnormal electroretinogram2PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1583298787600827
HP:0000512HP:0000512Abnormal electroretinogram2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12708789180073
HP:0000512HP:0000512Abnormal electroretinogram2PDE6H CL E G H514949382ORPHA12748790601190
HP:0000512HP:0000512Abnormal electroretinogram2PDZD7 CL E G H79955231178ORPHA11942026257612971
HP:0000512HP:0000512Abnormal electroretinogram2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11407828850602136
HP:0000512HP:0000512Abnormal electroretinogram2PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM1372408854601758
HP:0000512HP:0000512Abnormal electroretinogram2PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM11217225712611655
HP:0000512HP:0000512Abnormal electroretinogram2PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13263426270613629
HP:0000512HP:0000512Abnormal electroretinogram2PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13263426270613629
HP:0000512HP:0000512Abnormal electroretinogram2PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA16166616268603197
HP:0000512HP:0000512Abnormal electroretinogram2POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15434618801614787
HP:0000512HP:0000512Abnormal electroretinogram2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18965219139606822
HP:0000512HP:0000512Abnormal electroretinogram2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1710032528610598
HP:0000512HP:0000512Abnormal electroretinogram2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1835039454604365
HP:0000512HP:0000512Abnormal electroretinogram2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1716417348607301
HP:0000512HP:0000512Abnormal electroretinogram2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117529115446606419
HP:0000512HP:0000512Abnormal electroretinogram2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1412617349607795
HP:0000512HP:0000512Abnormal electroretinogram2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11127215860613979
HP:0000512HP:0000512Abnormal electroretinogram2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15358217340607300
HP:0000512HP:0000512Abnormal electroretinogram2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11815259942179605
HP:0000512HP:0000512Abnormal electroretinogram2PRPH2 CL E G H5961608133Retinitis pigmentosa 7608133C1842475OMIM11815259942179605
HP:0000512HP:0000512Abnormal electroretinogram2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1185839921180290
HP:0000512HP:0000512Abnormal electroretinogram2RD3 CL E G H34303565ORPHA11319219689180040
HP:0000512HP:0000512Abnormal electroretinogram2RDH12 CL E G H14522665ORPHA110929519977608830
HP:0000512HP:0000512Abnormal electroretinogram2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110929519977608830
HP:0000512HP:0000512Abnormal electroretinogram2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1814030078609346
HP:0000512HP:0000512Abnormal electroretinogram2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111579990600342
HP:0000512HP:0000512Abnormal electroretinogram2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121936610012180380
HP:0000512HP:0000512Abnormal electroretinogram2RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0000512HP:0000512Abnormal electroretinogram2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13720010024180090
HP:0000512HP:0000512Abnormal electroretinogram2RLBP1 CL E G H6017607475Bothnia retinal dystrophy607475C1843816OMIM13720010024180090
HP:0000512HP:0000512Abnormal electroretinogram2RNF216 CL E G H544761173CDG syndrome type 3ORPHA11413021698609948
HP:0000512HP:0000512Abnormal electroretinogram2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11816710254180721
HP:0000512HP:0000512Abnormal electroretinogram2ROM1 CL E G H6094608133Retinitis pigmentosa 7608133C1842475OMIM11816710254180721
HP:0000512HP:0000512Abnormal electroretinogram2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119068410263603937
HP:0000512HP:0000512Abnormal electroretinogram2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112134610274300757
HP:0000512HP:0000512Abnormal electroretinogram2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145110288607331
HP:0000512HP:0000512Abnormal electroretinogram2RPE65 CL E G H612165ORPHA120849610294180069
HP:0000512HP:0000512Abnormal electroretinogram2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120849610294180069
HP:0000512HP:0000512Abnormal electroretinogram2RPGR CL E G H610349382ORPHA124579810295312610
HP:0000512HP:0000512Abnormal electroretinogram2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124579810295312610
HP:0000512HP:0000512Abnormal electroretinogram2RPGRIP1 CL E G H5709665ORPHA114956513436605446
HP:0000512HP:0000512Abnormal electroretinogram2RS1 CL E G H6247792ORPHA127954810457300839
HP:0000512HP:0000512Abnormal electroretinogram2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11623010521181031
HP:0000512HP:0000512Abnormal electroretinogram2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187413081611611
HP:0000512HP:0000512Abnormal electroretinogram2SDCCAG8 CL E G H10806110ORPHA11834610671613524
HP:0000512HP:0000512Abnormal electroretinogram2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11723810729607292
HP:0000512HP:0000512Abnormal electroretinogram2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1821629326615720
HP:0000512HP:0000512Abnormal electroretinogram2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13549130859601664
HP:0000512HP:0000512Abnormal electroretinogram2SPATA7 CL E G H5581265ORPHA13922920423609868
HP:0000512HP:0000512Abnormal electroretinogram2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13922920423609868
HP:0000512HP:0000512Abnormal electroretinogram2SUCLA2 CL E G H88031933ORPHA12923711448603921
HP:0000512HP:0000512Abnormal electroretinogram2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12220011817300356
HP:0000512HP:0000512Abnormal electroretinogram2TIMP3 CL E G H7078136900Sorsby fundus dystrophy136900C1850938OMIM12119811822188826
HP:0000512HP:0000512Abnormal electroretinogram2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12230821653609507
HP:0000512HP:0000512Abnormal electroretinogram2TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM12230821653609507
HP:0000512HP:0000512Abnormal electroretinogram2TRIM32 CL E G H22954110ORPHA11640616380602290
HP:0000512HP:0000512Abnormal electroretinogram2TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1848207146603576
HP:0000512HP:0000512Abnormal electroretinogram2TTC8 CL E G H123016110ORPHA11620220087608132
HP:0000512HP:0000512Abnormal electroretinogram2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11620220087608132
HP:0000512HP:0000512Abnormal electroretinogram2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1320012406601197
HP:0000512HP:0000512Abnormal electroretinogram2TULP1 CL E G H728765ORPHA17531012423602280
HP:0000512HP:0000512Abnormal electroretinogram2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17531012423602280
HP:0000512HP:0000512Abnormal electroretinogram2USH1C CL E G H10083231169ORPHA15172612597605242
HP:0000512HP:0000512Abnormal electroretinogram2USH1G CL E G H124590231169ORPHA13224216356607696
HP:0000512HP:0000512Abnormal electroretinogram2USH2A CL E G H7399231178ORPHA11234402412601608400
HP:0000512HP:0000512Abnormal electroretinogram2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234402412601608400
HP:0000512HP:0000512Abnormal electroretinogram2USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM11234402412601608400
HP:0000512HP:0000512Abnormal electroretinogram2VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410512723605020
HP:0000512HP:0000512Abnormal electroretinogram2WDPCP CL E G H51057110ORPHA1827328027613580
HP:0000512HP:0000512Abnormal electroretinogram2WHRN CL E G H25861231178ORPHA13249616361607928
HP:0000512HP:0000512Abnormal electroretinogram2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421820041616454
HP:0000512HP:0000512Abnormal electroretinogram2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1318826498613598
HP:0000512HP:0000512Abnormal electroretinogram3ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280211234601691
HP:0000512HP:0000512Abnormal electroretinogram3ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280211234601691
HP:0000512HP:0000512Abnormal electroretinogram3ACOX1 CL E G H512971ORPHA126384119609751
HP:0000512HP:0000512Abnormal electroretinogram3ADGRV1 CL E G H84059231178ORPHA1249240517416602851
HP:0000512HP:0000512Abnormal electroretinogram3AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1926526147615900
HP:0000512HP:0000512Abnormal electroretinogram3AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19663421575608894
HP:0000512HP:0000512Abnormal electroretinogram3AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19663421575608894
HP:0000512HP:0000512Abnormal electroretinogram3AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14204348600253
HP:0000512HP:0000512Abnormal electroretinogram3AIPL1 CL E G H2374665ORPHA179312359604392
HP:0000512HP:0000512Abnormal electroretinogram3ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1737617090616432
HP:0000512HP:0000512Abnormal electroretinogram3ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA155117146615407
HP:0000512HP:0000512Abnormal electroretinogram3ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1363694604695
HP:0000512HP:0000512Abnormal electroretinogram3ARL6 CL E G H84100110ORPHA12110913210608845
HP:0000512HP:0000512Abnormal electroretinogram3ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12110913210608845
HP:0000512HP:0000512Abnormal electroretinogram3ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000512HP:0000512Abnormal electroretinogram3ATF6 CL E G H2292649382ORPHA116178791605537
HP:0000512HP:0000512Abnormal electroretinogram3BBIP1 CL E G H92482110ORPHA115928093613605
HP:0000512HP:0000512Abnormal electroretinogram3BBS1 CL E G H582110ORPHA1105489966209901
HP:0000512HP:0000512Abnormal electroretinogram3BBS10 CL E G H79738110ORPHA110943826291610148
HP:0000512HP:0000512Abnormal electroretinogram3BBS12 CL E G H166379110ORPHA16135126648610683
HP:0000512HP:0000512Abnormal electroretinogram3BBS2 CL E G H583110ORPHA196478967606151
HP:0000512HP:0000512Abnormal electroretinogram3BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196478967606151
HP:0000512HP:0000512Abnormal electroretinogram3BBS4 CL E G H585110ORPHA154298969600374
HP:0000512HP:0000512Abnormal electroretinogram3BBS5 CL E G H129880110ORPHA131145970603650
HP:0000512HP:0000512Abnormal electroretinogram3BBS7 CL E G H55212110ORPHA14425118758607590
HP:0000512HP:0000512Abnormal electroretinogram3BBS9 CL E G H27241110ORPHA15342430000607968
HP:0000512HP:0000512Abnormal electroretinogram3BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram3BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram3BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131949212703607854
HP:0000512HP:0000512Abnormal electroretinogram3C8orf37 CL E G H157657110ORPHA11727232614477
HP:0000512HP:0000512Abnormal electroretinogram3C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11727232614477
HP:0000512HP:0000512Abnormal electroretinogram3CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1101411375114760
HP:0000512HP:0000512Abnormal electroretinogram3CACNA1F CL E G H778178333ORPHA11856521393300110
HP:0000512HP:0000512Abnormal electroretinogram3CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM1122331482602537
HP:0000512HP:0000512Abnormal electroretinogram3CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0000512HP:0000512Abnormal electroretinogram3CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14949514550609502
HP:0000512HP:0000512Abnormal electroretinogram3CEP290 CL E G H80184110ORPHA1310151729021610142
HP:0000512HP:0000512Abnormal electroretinogram3CEP290 CL E G H8018465ORPHA1310151729021610142
HP:0000512HP:0000512Abnormal electroretinogram3CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000512HP:0000512Abnormal electroretinogram3CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13942321699608381
HP:0000512HP:0000512Abnormal electroretinogram3CHM CL E G H1121180ORPHA12885511940300390
HP:0000512HP:0000512Abnormal electroretinogram3CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0000512HP:0000512Abnormal electroretinogram3CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000512HP:0000512Abnormal electroretinogram3CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13923912605606397
HP:0000512HP:0000512Abnormal electroretinogram3CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1332432148123825
HP:0000512HP:0000512Abnormal electroretinogram3CNGA3 CL E G H126149382ORPHA11523972150600053
HP:0000512HP:0000512Abnormal electroretinogram3CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1626392151600724
HP:0000512HP:0000512Abnormal electroretinogram3CNGB3 CL E G H5471449382ORPHA11265892153605080
HP:0000512HP:0000512Abnormal electroretinogram3CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11265892153605080
HP:0000512HP:0000512Abnormal electroretinogram3CRB1 CL E G H2341865ORPHA13478902343604210
HP:0000512HP:0000512Abnormal electroretinogram3CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13478902343604210
HP:0000512HP:0000512Abnormal electroretinogram3CRX CL E G H140665ORPHA11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram3CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram3CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM11073602383602225
HP:0000512HP:0000512Abnormal electroretinogram3DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1819920603608172
HP:0000512HP:0000512Abnormal electroretinogram3DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1232817211605584
HP:0000512HP:0000512Abnormal electroretinogram3EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338204721555612424
HP:0000512HP:0000512Abnormal electroretinogram3FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12036225808613596
HP:0000512HP:0000512Abnormal electroretinogram3FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1152753960607643
HP:0000512HP:0000512Abnormal electroretinogram3GDF6 CL E G H39225565ORPHA1212114221601147
HP:0000512HP:0000512Abnormal electroretinogram3GNAT2 CL E G H278049382ORPHA1161314394139340
HP:0000512HP:0000512Abnormal electroretinogram3GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA1161314394139340
HP:0000512HP:0000512Abnormal electroretinogram3GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM1101274401604447
HP:0000512HP:0000512Abnormal electroretinogram3GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1231564678600364
HP:0000512HP:0000512Abnormal electroretinogram3GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171324679602275
HP:0000512HP:0000512Abnormal electroretinogram3GUCY2D CL E G H300065ORPHA12435884689600179
HP:0000512HP:0000512Abnormal electroretinogram3HADHA CL E G H30305ORPHA1714734801600890
HP:0000512HP:0000512Abnormal electroretinogram3HARS CL E G H3035231183ORPHA1134816142810
HP:0000512HP:0000512Abnormal electroretinogram3HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17259026527610453
HP:0000512HP:0000512Abnormal electroretinogram3IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141595385604526
HP:0000512HP:0000512Abnormal electroretinogram3IFT140 CL E G H974265ORPHA17283729077614620
HP:0000512HP:0000512Abnormal electroretinogram3IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17283729077614620
HP:0000512HP:0000512Abnormal electroretinogram3IFT172 CL E G H26160110ORPHA12757130391607386
HP:0000512HP:0000512Abnormal electroretinogram3IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12757130391607386
HP:0000512HP:0000512Abnormal electroretinogram3IFT27 CL E G H11020110ORPHA148018626615870
HP:0000512HP:0000512Abnormal electroretinogram3IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166020606600595
HP:0000512HP:0000512Abnormal electroretinogram3IMPDH1 CL E G H361465ORPHA1242826052146690
HP:0000512HP:0000512Abnormal electroretinogram3IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242826052146690
HP:0000512HP:0000512Abnormal electroretinogram3IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14249318362607056
HP:0000512HP:0000512Abnormal electroretinogram3IQCB1 CL E G H965765ORPHA14327428949609237
HP:0000512HP:0000512Abnormal electroretinogram3KCNJ13 CL E G H376965ORPHA1101466259603208
HP:0000512HP:0000512Abnormal electroretinogram3KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1960922219613344
HP:0000512HP:0000512Abnormal electroretinogram3KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1418215865615757
HP:0000512HP:0000512Abnormal electroretinogram3KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11417415646611119
HP:0000512HP:0000512Abnormal electroretinogram3LCA5 CL E G H16769165ORPHA14937231923611408
HP:0000512HP:0000512Abnormal electroretinogram3LRAT CL E G H922765ORPHA1241826685604863
HP:0000512HP:0000512Abnormal electroretinogram3LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241826685604863
HP:0000512HP:0000512Abnormal electroretinogram3LZTFL1 CL E G H54585110ORPHA13686741606568
HP:0000512HP:0000512Abnormal electroretinogram3MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242416816154235
HP:0000512HP:0000512Abnormal electroretinogram3MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894617027604705
HP:0000512HP:0000512Abnormal electroretinogram3MKKS CL E G H8195110ORPHA1602497108604896
HP:0000512HP:0000512Abnormal electroretinogram3MKS1 CL E G H54903110ORPHA1524737121609883
HP:0000512HP:0000512Abnormal electroretinogram3MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000512HP:0000512Abnormal electroretinogram3MYO7A CL E G H4647231178ORPHA152721647606276903
HP:0000512HP:0000512Abnormal electroretinogram3MYO7A CL E G H4647231169ORPHA152721647606276903
HP:0000512HP:0000512Abnormal electroretinogram3NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11397745604043
HP:0000512HP:0000512Abnormal electroretinogram3NMNAT1 CL E G H6480265ORPHA17614417877608700
HP:0000512HP:0000512Abnormal electroretinogram3NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM13798367883600276
HP:0000512HP:0000512Abnormal electroretinogram3NPHP1 CL E G H4867110ORPHA1795257905607100
HP:0000512HP:0000512Abnormal electroretinogram3NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1803627974604485
HP:0000512HP:0000512Abnormal electroretinogram3NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251648002162080
HP:0000512HP:0000512Abnormal electroretinogram3OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11626332567300170
HP:0000512HP:0000512Abnormal electroretinogram3PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15360334383613425
HP:0000512HP:0000512Abnormal electroretinogram3PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM15360334383613425
HP:0000512HP:0000512Abnormal electroretinogram3PCDH15 CL E G H65217231169ORPHA1122169214674605514
HP:0000512HP:0000512Abnormal electroretinogram3PCYT1A CL E G H513065ORPHA1202068754123695
HP:0000512HP:0000512Abnormal electroretinogram3PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1514938785180071
HP:0000512HP:0000512Abnormal electroretinogram3PDE6A CL E G H5145613810Retinitis pigmentosa 43613810C3151139OMIM1514938785180071
HP:0000512HP:0000512Abnormal electroretinogram3PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11336938786180072
HP:0000512HP:0000512Abnormal electroretinogram3PDE6C CL E G H514649382ORPHA1583298787600827
HP:0000512HP:0000512Abnormal electroretinogram3PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1583298787600827
HP:0000512HP:0000512Abnormal electroretinogram3PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12708789180073
HP:0000512HP:0000512Abnormal electroretinogram3PDE6H CL E G H514949382ORPHA12748790601190
HP:0000512HP:0000512Abnormal electroretinogram3PDZD7 CL E G H79955231178ORPHA11942026257612971
HP:0000512HP:0000512Abnormal electroretinogram3PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11407828850602136
HP:0000512HP:0000512Abnormal electroretinogram3PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM1372408854601758
HP:0000512HP:0000512Abnormal electroretinogram3PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM11217225712611655
HP:0000512HP:0000512Abnormal electroretinogram3PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13263426270613629
HP:0000512HP:0000512Abnormal electroretinogram3PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13263426270613629
HP:0000512HP:0000512Abnormal electroretinogram3PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA16166616268603197
HP:0000512HP:0000512Abnormal electroretinogram3POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15434618801614787
HP:0000512HP:0000512Abnormal electroretinogram3POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18965219139606822
HP:0000512HP:0000512Abnormal electroretinogram3PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1710032528610598
HP:0000512HP:0000512Abnormal electroretinogram3PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1835039454604365
HP:0000512HP:0000512Abnormal electroretinogram3PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1716417348607301
HP:0000512HP:0000512Abnormal electroretinogram3PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117529115446606419
HP:0000512HP:0000512Abnormal electroretinogram3PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1412617349607795
HP:0000512HP:0000512Abnormal electroretinogram3PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11127215860613979
HP:0000512HP:0000512Abnormal electroretinogram3PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15358217340607300
HP:0000512HP:0000512Abnormal electroretinogram3PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11815259942179605
HP:0000512HP:0000512Abnormal electroretinogram3PRPH2 CL E G H5961608133Retinitis pigmentosa 7608133C1842475OMIM11815259942179605
HP:0000512HP:0000512Abnormal electroretinogram3RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1185839921180290
HP:0000512HP:0000512Abnormal electroretinogram3RD3 CL E G H34303565ORPHA11319219689180040
HP:0000512HP:0000512Abnormal electroretinogram3RDH12 CL E G H14522665ORPHA110929519977608830
HP:0000512HP:0000512Abnormal electroretinogram3RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110929519977608830
HP:0000512HP:0000512Abnormal electroretinogram3REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1814030078609346
HP:0000512HP:0000512Abnormal electroretinogram3RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111579990600342
HP:0000512HP:0000512Abnormal electroretinogram3RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121936610012180380
HP:0000512HP:0000512Abnormal electroretinogram3RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0000512HP:0000512Abnormal electroretinogram3RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13720010024180090
HP:0000512HP:0000512Abnormal electroretinogram3RLBP1 CL E G H6017607475Bothnia retinal dystrophy607475C1843816OMIM13720010024180090
HP:0000512HP:0000512Abnormal electroretinogram3RNF216 CL E G H544761173CDG syndrome type 3ORPHA11413021698609948
HP:0000512HP:0000512Abnormal electroretinogram3ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11816710254180721
HP:0000512HP:0000512Abnormal electroretinogram3ROM1 CL E G H6094608133Retinitis pigmentosa 7608133C1842475OMIM11816710254180721
HP:0000512HP:0000512Abnormal electroretinogram3RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119068410263603937
HP:0000512HP:0000512Abnormal electroretinogram3RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112134610274300757
HP:0000512HP:0000512Abnormal electroretinogram3RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145110288607331
HP:0000512HP:0000512Abnormal electroretinogram3RPE65 CL E G H612165ORPHA120849610294180069
HP:0000512HP:0000512Abnormal electroretinogram3RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120849610294180069
HP:0000512HP:0000512Abnormal electroretinogram3RPGR CL E G H610349382ORPHA124579810295312610
HP:0000512HP:0000512Abnormal electroretinogram3RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124579810295312610
HP:0000512HP:0000512Abnormal electroretinogram3RPGRIP1 CL E G H5709665ORPHA114956513436605446
HP:0000512HP:0000512Abnormal electroretinogram3RS1 CL E G H6247792ORPHA127954810457300839
HP:0000512HP:0000512Abnormal electroretinogram3SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11623010521181031
HP:0000512HP:0000512Abnormal electroretinogram3SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasia