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 hypoplasiaORPHA1212834601691
HP:0000512HP:0000512Abnormal electroretinogram0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1253434601691
HP:0000512HP:0000512Abnormal electroretinogram0ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0000512HP:0000512Abnormal electroretinogram0ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0000512HP:0000512Abnormal electroretinogram0ACOX1 CL E G H512971ORPHA1388119609751
HP:0000512HP:0000512Abnormal electroretinogram0ACOX1 CL E G H512971ORPHA1435119609751
HP:0000512HP:0000512Abnormal electroretinogram0ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000512HP:0000512Abnormal electroretinogram0ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000512HP:0000512Abnormal electroretinogram0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126526147615900
HP:0000512HP:0000512Abnormal electroretinogram0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137726147615900
HP:0000512HP:0000512Abnormal electroretinogram0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165021575608894
HP:0000512HP:0000512Abnormal electroretinogram0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA182721575608894
HP:0000512HP:0000512Abnormal electroretinogram0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000512HP:0000512Abnormal electroretinogram0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000512HP:0000512Abnormal electroretinogram0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1204348600253
HP:0000512HP:0000512Abnormal electroretinogram0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1300348600253
HP:0000512HP:0000512Abnormal electroretinogram0AIPL1 CL E G H2374665ORPHA1315359604392
HP:0000512HP:0000512Abnormal electroretinogram0AIPL1 CL E G H2374665ORPHA1374359604392
HP:0000512HP:0000512Abnormal electroretinogram0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137617090616432
HP:0000512HP:0000512Abnormal electroretinogram0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA151917090616432
HP:0000512HP:0000512Abnormal electroretinogram0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15117146615407
HP:0000512HP:0000512Abnormal electroretinogram0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17417146615407
HP:0000512HP:0000512Abnormal electroretinogram0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA164694604695
HP:0000512HP:0000512Abnormal electroretinogram0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190694604695
HP:0000512HP:0000512Abnormal electroretinogram0ARL6 CL E G H84100110ORPHA111313210608845
HP:0000512HP:0000512Abnormal electroretinogram0ARL6 CL E G H84100110ORPHA114313210608845
HP:0000512HP:0000512Abnormal electroretinogram0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111313210608845
HP:0000512HP:0000512Abnormal electroretinogram0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114313210608845
HP:0000512HP:0000512Abnormal electroretinogram0ARSG CL E G H22901231183ORPHA117424102610008
HP:0000512HP:0000512Abnormal electroretinogram0ARSG CL E G H22901231183ORPHA125024102610008
HP:0000512HP:0000512Abnormal electroretinogram0ATF6 CL E G H2292649382ORPHA1178791605537
HP:0000512HP:0000512Abnormal electroretinogram0ATF6 CL E G H2292649382ORPHA1246791605537
HP:0000512HP:0000512Abnormal electroretinogram0BBIP1 CL E G H92482110ORPHA15928093613605
HP:0000512HP:0000512Abnormal electroretinogram0BBIP1 CL E G H92482110ORPHA17128093613605
HP:0000512HP:0000512Abnormal electroretinogram0BBS1 CL E G H582110ORPHA1491966209901
HP:0000512HP:0000512Abnormal electroretinogram0BBS1 CL E G H582110ORPHA1582966209901
HP:0000512HP:0000512Abnormal electroretinogram0BBS10 CL E G H79738110ORPHA143826291610148
HP:0000512HP:0000512Abnormal electroretinogram0BBS10 CL E G H79738110ORPHA152826291610148
HP:0000512HP:0000512Abnormal electroretinogram0BBS12 CL E G H166379110ORPHA135526648610683
HP:0000512HP:0000512Abnormal electroretinogram0BBS12 CL E G H166379110ORPHA143926648610683
HP:0000512HP:0000512Abnormal electroretinogram0BBS2 CL E G H583110ORPHA1482967606151
HP:0000512HP:0000512Abnormal electroretinogram0BBS2 CL E G H583110ORPHA1585967606151
HP:0000512HP:0000512Abnormal electroretinogram0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482967606151
HP:0000512HP:0000512Abnormal electroretinogram0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1585967606151
HP:0000512HP:0000512Abnormal electroretinogram0BBS4 CL E G H585110ORPHA1299969600374
HP:0000512HP:0000512Abnormal electroretinogram0BBS4 CL E G H585110ORPHA1378969600374
HP:0000512HP:0000512Abnormal electroretinogram0BBS5 CL E G H129880110ORPHA1147970603650
HP:0000512HP:0000512Abnormal electroretinogram0BBS5 CL E G H129880110ORPHA1199970603650
HP:0000512HP:0000512Abnormal electroretinogram0BBS7 CL E G H55212110ORPHA125418758607590
HP:0000512HP:0000512Abnormal electroretinogram0BBS7 CL E G H55212110ORPHA132618758607590
HP:0000512HP:0000512Abnormal electroretinogram0BBS9 CL E G H27241110ORPHA142630000607968
HP:0000512HP:0000512Abnormal electroretinogram0BBS9 CL E G H27241110ORPHA151230000607968
HP:0000512HP:0000512Abnormal electroretinogram0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149912703607854
HP:0000512HP:0000512Abnormal electroretinogram0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159512703607854
HP:0000512HP:0000512Abnormal electroretinogram0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0000512HP:0000512Abnormal electroretinogram0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0000512HP:0000512Abnormal electroretinogram0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000512HP:0000512Abnormal electroretinogram0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000512HP:0000512Abnormal electroretinogram0C8orf37 CL E G H157657110ORPHA127232614477
HP:0000512HP:0000512Abnormal electroretinogram0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000512HP:0000512Abnormal electroretinogram0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421375114760
HP:0000512HP:0000512Abnormal electroretinogram0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11881375114760
HP:0000512HP:0000512Abnormal electroretinogram0CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000512HP:0000512Abnormal electroretinogram0CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000512HP:0000512Abnormal electroretinogram0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000512HP:0000512Abnormal electroretinogram0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000512HP:0000512Abnormal electroretinogram0CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000512HP:0000512Abnormal electroretinogram0CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000512HP:0000512Abnormal electroretinogram0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149614550609502
HP:0000512HP:0000512Abnormal electroretinogram0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162314550609502
HP:0000512HP:0000512Abnormal electroretinogram0CEP290 CL E G H8018465ORPHA1153529021610142
HP:0000512HP:0000512Abnormal electroretinogram0CEP290 CL E G H8018465ORPHA1190229021610142
HP:0000512HP:0000512Abnormal electroretinogram0CEP290 CL E G H80184110ORPHA1153529021610142
HP:0000512HP:0000512Abnormal electroretinogram0CEP290 CL E G H80184110ORPHA1190229021610142
HP:0000512HP:0000512Abnormal electroretinogram0CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000512HP:0000512Abnormal electroretinogram0CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000512HP:0000512Abnormal electroretinogram0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142721699608381
HP:0000512HP:0000512Abnormal electroretinogram0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150221699608381
HP:0000512HP:0000512Abnormal electroretinogram0CHM CL E G H1121180ORPHA15521940300390
HP:0000512HP:0000512Abnormal electroretinogram0CHM CL E G H1121180ORPHA16201940300390
HP:0000512HP:0000512Abnormal electroretinogram0CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000512HP:0000512Abnormal electroretinogram0CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000512HP:0000512Abnormal electroretinogram0CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000512HP:0000512Abnormal electroretinogram0CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000512HP:0000512Abnormal electroretinogram0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124212605606397
HP:0000512HP:0000512Abnormal electroretinogram0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127212605606397
HP:0000512HP:0000512Abnormal electroretinogram0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12432148123825
HP:0000512HP:0000512Abnormal electroretinogram0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13042148123825
HP:0000512HP:0000512Abnormal electroretinogram0CNGA3 CL E G H126149382ORPHA13982150600053
HP:0000512HP:0000512Abnormal electroretinogram0CNGA3 CL E G H126149382ORPHA14972150600053
HP:0000512HP:0000512Abnormal electroretinogram0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16422151600724
HP:0000512HP:0000512Abnormal electroretinogram0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17992151600724
HP:0000512HP:0000512Abnormal electroretinogram0CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0000512HP:0000512Abnormal electroretinogram0CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0000512HP:0000512Abnormal electroretinogram0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA15902153605080
HP:0000512HP:0000512Abnormal electroretinogram0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA17002153605080
HP:0000512HP:0000512Abnormal electroretinogram0CRB1 CL E G H2341865ORPHA18942343604210
HP:0000512HP:0000512Abnormal electroretinogram0CRB1 CL E G H2341865ORPHA110852343604210
HP:0000512HP:0000512Abnormal electroretinogram0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18942343604210
HP:0000512HP:0000512Abnormal electroretinogram0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110852343604210
HP:0000512HP:0000512Abnormal electroretinogram0CRX CL E G H140665ORPHA13612383602225
HP:0000512HP:0000512Abnormal electroretinogram0CRX CL E G H140665ORPHA14192383602225
HP:0000512HP:0000512Abnormal electroretinogram0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13612383602225
HP:0000512HP:0000512Abnormal electroretinogram0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14192383602225
HP:0000512HP:0000512Abnormal electroretinogram0CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM13612383602225
HP:0000512HP:0000512Abnormal electroretinogram0CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM14192383602225
HP:0000512HP:0000512Abnormal electroretinogram0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119920603608172
HP:0000512HP:0000512Abnormal electroretinogram0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA125620603608172
HP:0000512HP:0000512Abnormal electroretinogram0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132817211605584
HP:0000512HP:0000512Abnormal electroretinogram0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147017211605584
HP:0000512HP:0000512Abnormal electroretinogram0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1206021555612424
HP:0000512HP:0000512Abnormal electroretinogram0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1258921555612424
HP:0000512HP:0000512Abnormal electroretinogram0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA136225808613596
HP:0000512HP:0000512Abnormal electroretinogram0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145625808613596
HP:0000512HP:0000512Abnormal electroretinogram0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12773960607643
HP:0000512HP:0000512Abnormal electroretinogram0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13863960607643
HP:0000512HP:0000512Abnormal electroretinogram0GDF6 CL E G H39225565ORPHA12124221601147
HP:0000512HP:0000512Abnormal electroretinogram0GDF6 CL E G H39225565ORPHA12704221601147
HP:0000512HP:0000512Abnormal electroretinogram0GNAT2 CL E G H278049382ORPHA11314394139340
HP:0000512HP:0000512Abnormal electroretinogram0GNAT2 CL E G H278049382ORPHA11584394139340
HP:0000512HP:0000512Abnormal electroretinogram0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11314394139340
HP:0000512HP:0000512Abnormal electroretinogram0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11584394139340
HP:0000512HP:0000512Abnormal electroretinogram0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11304401604447
HP:0000512HP:0000512Abnormal electroretinogram0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11334401604447
HP:0000512HP:0000512Abnormal electroretinogram0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11584678600364
HP:0000512HP:0000512Abnormal electroretinogram0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11904678600364
HP:0000512HP:0000512Abnormal electroretinogram0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11344679602275
HP:0000512HP:0000512Abnormal electroretinogram0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11654679602275
HP:0000512HP:0000512Abnormal electroretinogram0GUCY2D CL E G H300065ORPHA15934689600179
HP:0000512HP:0000512Abnormal electroretinogram0GUCY2D CL E G H300065ORPHA17314689600179
HP:0000512HP:0000512Abnormal electroretinogram0HADHA CL E G H30305ORPHA14774801600890
HP:0000512HP:0000512Abnormal electroretinogram0HADHA CL E G H30305ORPHA15274801600890
HP:0000512HP:0000512Abnormal electroretinogram0HARS CL E G H3035231183ORPHA14816142810
HP:0000512HP:0000512Abnormal electroretinogram0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159426527610453
HP:0000512HP:0000512Abnormal electroretinogram0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169826527610453
HP:0000512HP:0000512Abnormal electroretinogram0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11595385604526
HP:0000512HP:0000512Abnormal electroretinogram0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12025385604526
HP:0000512HP:0000512Abnormal electroretinogram0IFT140 CL E G H974265ORPHA185129077614620
HP:0000512HP:0000512Abnormal electroretinogram0IFT140 CL E G H974265ORPHA1109829077614620
HP:0000512HP:0000512Abnormal electroretinogram0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA185129077614620
HP:0000512HP:0000512Abnormal electroretinogram0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1109829077614620
HP:0000512HP:0000512Abnormal electroretinogram0IFT172 CL E G H26160110ORPHA158730391607386
HP:0000512HP:0000512Abnormal electroretinogram0IFT172 CL E G H26160110ORPHA180530391607386
HP:0000512HP:0000512Abnormal electroretinogram0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158730391607386
HP:0000512HP:0000512Abnormal electroretinogram0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA180530391607386
HP:0000512HP:0000512Abnormal electroretinogram0IFT27 CL E G H11020110ORPHA18118626615870
HP:0000512HP:0000512Abnormal electroretinogram0IFT27 CL E G H11020110ORPHA110418626615870
HP:0000512HP:0000512Abnormal electroretinogram0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16120606600595
HP:0000512HP:0000512Abnormal electroretinogram0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110720606600595
HP:0000512HP:0000512Abnormal electroretinogram0IMPDH1 CL E G H361465ORPHA12836052146690
HP:0000512HP:0000512Abnormal electroretinogram0IMPDH1 CL E G H361465ORPHA13456052146690
HP:0000512HP:0000512Abnormal electroretinogram0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12836052146690
HP:0000512HP:0000512Abnormal electroretinogram0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13456052146690
HP:0000512HP:0000512Abnormal electroretinogram0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149818362607056
HP:0000512HP:0000512Abnormal electroretinogram0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162618362607056
HP:0000512HP:0000512Abnormal electroretinogram0IQCB1 CL E G H965765ORPHA127628949609237
HP:0000512HP:0000512Abnormal electroretinogram0IQCB1 CL E G H965765ORPHA135228949609237
HP:0000512HP:0000512Abnormal electroretinogram0KCNJ13 CL E G H376965ORPHA11466259603208
HP:0000512HP:0000512Abnormal electroretinogram0KCNJ13 CL E G H376965ORPHA11746259603208
HP:0000512HP:0000512Abnormal electroretinogram0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160922219613344
HP:0000512HP:0000512Abnormal electroretinogram0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA183722219613344
HP:0000512HP:0000512Abnormal electroretinogram0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA118215865615757
HP:0000512HP:0000512Abnormal electroretinogram0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126215865615757
HP:0000512HP:0000512Abnormal electroretinogram0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117615646611119
HP:0000512HP:0000512Abnormal electroretinogram0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121115646611119
HP:0000512HP:0000512Abnormal electroretinogram0LCA5 CL E G H16769165ORPHA137431923611408
HP:0000512HP:0000512Abnormal electroretinogram0LCA5 CL E G H16769165ORPHA145831923611408
HP:0000512HP:0000512Abnormal electroretinogram0LRAT CL E G H922765ORPHA11826685604863
HP:0000512HP:0000512Abnormal electroretinogram0LRAT CL E G H922765ORPHA12056685604863
HP:0000512HP:0000512Abnormal electroretinogram0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11826685604863
HP:0000512HP:0000512Abnormal electroretinogram0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12056685604863
HP:0000512HP:0000512Abnormal electroretinogram0LZTFL1 CL E G H54585110ORPHA1696741606568
HP:0000512HP:0000512Abnormal electroretinogram0LZTFL1 CL E G H54585110ORPHA1866741606568
HP:0000512HP:0000512Abnormal electroretinogram0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12436816154235
HP:0000512HP:0000512Abnormal electroretinogram0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13176816154235
HP:0000512HP:0000512Abnormal electroretinogram0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14637027604705
HP:0000512HP:0000512Abnormal electroretinogram0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15747027604705
HP:0000512HP:0000512Abnormal electroretinogram0MKKS CL E G H8195110ORPHA12517108604896
HP:0000512HP:0000512Abnormal electroretinogram0MKKS CL E G H8195110ORPHA13157108604896
HP:0000512HP:0000512Abnormal electroretinogram0MKS1 CL E G H54903110ORPHA14777121609883
HP:0000512HP:0000512Abnormal electroretinogram0MKS1 CL E G H54903110ORPHA15537121609883
HP:0000512HP:0000512Abnormal electroretinogram0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000512HP:0000512Abnormal electroretinogram0MYO7A CL E G H4647231169ORPHA122237606276903
HP:0000512HP:0000512Abnormal electroretinogram0MYO7A CL E G H4647231169ORPHA125167606276903
HP:0000512HP:0000512Abnormal electroretinogram0MYO7A CL E G H4647231178ORPHA122237606276903
HP:0000512HP:0000512Abnormal electroretinogram0MYO7A CL E G H4647231178ORPHA125167606276903
HP:0000512HP:0000512Abnormal electroretinogram0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1397745604043
HP:0000512HP:0000512Abnormal electroretinogram0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11047745604043
HP:0000512HP:0000512Abnormal electroretinogram0NMNAT1 CL E G H6480265ORPHA114417877608700
HP:0000512HP:0000512Abnormal electroretinogram0NMNAT1 CL E G H6480265ORPHA118017877608700
HP:0000512HP:0000512Abnormal electroretinogram0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM18607883600276
HP:0000512HP:0000512Abnormal electroretinogram0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM19467883600276
HP:0000512HP:0000512Abnormal electroretinogram0NPHP1 CL E G H4867110ORPHA15327905607100
HP:0000512HP:0000512Abnormal electroretinogram0NPHP1 CL E G H4867110ORPHA16267905607100
HP:0000512HP:0000512Abnormal electroretinogram0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13637974604485
HP:0000512HP:0000512Abnormal electroretinogram0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14227974604485
HP:0000512HP:0000512Abnormal electroretinogram0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11648002162080
HP:0000512HP:0000512Abnormal electroretinogram0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12178002162080
HP:0000512HP:0000512Abnormal electroretinogram0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16472567300170
HP:0000512HP:0000512Abnormal electroretinogram0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17232567300170
HP:0000512HP:0000512Abnormal electroretinogram0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160334383613425
HP:0000512HP:0000512Abnormal electroretinogram0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177534383613425
HP:0000512HP:0000512Abnormal electroretinogram0PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM160334383613425
HP:0000512HP:0000512Abnormal electroretinogram0PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM177534383613425
HP:0000512HP:0000512Abnormal electroretinogram0PCDH15 CL E G H65217231169ORPHA1170914674605514
HP:0000512HP:0000512Abnormal electroretinogram0PCDH15 CL E G H65217231169ORPHA1198514674605514
HP:0000512HP:0000512Abnormal electroretinogram0PCYT1A CL E G H513065ORPHA12098754123695
HP:0000512HP:0000512Abnormal electroretinogram0PCYT1A CL E G H513065ORPHA12618754123695
HP:0000512HP:0000512Abnormal electroretinogram0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14968785180071
HP:0000512HP:0000512Abnormal electroretinogram0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16088785180071
HP:0000512HP:0000512Abnormal electroretinogram0PDE6A CL E G H5145613810Retinitis pigmentosa 43613810C3151139OMIM14968785180071
HP:0000512HP:0000512Abnormal electroretinogram0PDE6A CL E G H5145613810Retinitis pigmentosa 43613810C3151139OMIM16088785180071
HP:0000512HP:0000512Abnormal electroretinogram0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16988786180072
HP:0000512HP:0000512Abnormal electroretinogram0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18498786180072
HP:0000512HP:0000512Abnormal electroretinogram0PDE6C CL E G H514649382ORPHA13298787600827
HP:0000512HP:0000512Abnormal electroretinogram0PDE6C CL E G H514649382ORPHA14108787600827
HP:0000512HP:0000512Abnormal electroretinogram0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA13298787600827
HP:0000512HP:0000512Abnormal electroretinogram0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA14108787600827
HP:0000512HP:0000512Abnormal electroretinogram0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1708789180073
HP:0000512HP:0000512Abnormal electroretinogram0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1818789180073
HP:0000512HP:0000512Abnormal electroretinogram0PDE6H CL E G H514949382ORPHA1748790601190
HP:0000512HP:0000512Abnormal electroretinogram0PDE6H CL E G H514949382ORPHA1808790601190
HP:0000512HP:0000512Abnormal electroretinogram0PDZD7 CL E G H79955231178ORPHA143326257612971
HP:0000512HP:0000512Abnormal electroretinogram0PDZD7 CL E G H79955231178ORPHA160726257612971
HP:0000512HP:0000512Abnormal electroretinogram0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM17938850602136
HP:0000512HP:0000512Abnormal electroretinogram0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM19518850602136
HP:0000512HP:0000512Abnormal electroretinogram0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM12458854601758
HP:0000512HP:0000512Abnormal electroretinogram0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13208854601758
HP:0000512HP:0000512Abnormal electroretinogram0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM117425712611655
HP:0000512HP:0000512Abnormal electroretinogram0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM120925712611655
HP:0000512HP:0000512Abnormal electroretinogram0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA167226270613629
HP:0000512HP:0000512Abnormal electroretinogram0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA170926270613629
HP:0000512HP:0000512Abnormal electroretinogram0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM167226270613629
HP:0000512HP:0000512Abnormal electroretinogram0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM170926270613629
HP:0000512HP:0000512Abnormal electroretinogram0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA166916268603197
HP:0000512HP:0000512Abnormal electroretinogram0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA180816268603197
HP:0000512HP:0000512Abnormal electroretinogram0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM138118801614787
HP:0000512HP:0000512Abnormal electroretinogram0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM139718801614787
HP:0000512HP:0000512Abnormal electroretinogram0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166219139606822
HP:0000512HP:0000512Abnormal electroretinogram0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179719139606822
HP:0000512HP:0000512Abnormal electroretinogram0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110232528610598
HP:0000512HP:0000512Abnormal electroretinogram0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111432528610598
HP:0000512HP:0000512Abnormal electroretinogram0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15099454604365
HP:0000512HP:0000512Abnormal electroretinogram0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16439454604365
HP:0000512HP:0000512Abnormal electroretinogram0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116617348607301
HP:0000512HP:0000512Abnormal electroretinogram0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120217348607301
HP:0000512HP:0000512Abnormal electroretinogram0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129315446606419
HP:0000512HP:0000512Abnormal electroretinogram0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141315446606419
HP:0000512HP:0000512Abnormal electroretinogram0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112617349607795
HP:0000512HP:0000512Abnormal electroretinogram0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116917349607795
HP:0000512HP:0000512Abnormal electroretinogram0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127815860613979
HP:0000512HP:0000512Abnormal electroretinogram0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA134215860613979
HP:0000512HP:0000512Abnormal electroretinogram0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160017340607300
HP:0000512HP:0000512Abnormal electroretinogram0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171317340607300
HP:0000512HP:0000512Abnormal electroretinogram0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15279942179605
HP:0000512HP:0000512Abnormal electroretinogram0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15929942179605
HP:0000512HP:0000512Abnormal electroretinogram0PRPH2 CL E G H5961608133Retinitis pigmentosa 7608133C1842475OMIM15279942179605
HP:0000512HP:0000512Abnormal electroretinogram0PRPH2 CL E G H5961608133Retinitis pigmentosa 7608133C1842475OMIM15929942179605
HP:0000512HP:0000512Abnormal electroretinogram0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15839921180290
HP:0000512HP:0000512Abnormal electroretinogram0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17639921180290
HP:0000512HP:0000512Abnormal electroretinogram0RD3 CL E G H34303565ORPHA119219689180040
HP:0000512HP:0000512Abnormal electroretinogram0RD3 CL E G H34303565ORPHA121419689180040
HP:0000512HP:0000512Abnormal electroretinogram0RDH12 CL E G H14522665ORPHA129819977608830
HP:0000512HP:0000512Abnormal electroretinogram0RDH12 CL E G H14522665ORPHA133619977608830
HP:0000512HP:0000512Abnormal electroretinogram0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129819977608830
HP:0000512HP:0000512Abnormal electroretinogram0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133619977608830
HP:0000512HP:0000512Abnormal electroretinogram0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114030078609346
HP:0000512HP:0000512Abnormal electroretinogram0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA118330078609346
HP:0000512HP:0000512Abnormal electroretinogram0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11609990600342
HP:0000512HP:0000512Abnormal electroretinogram0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12009990600342
HP:0000512HP:0000512Abnormal electroretinogram0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA136810012180380
HP:0000512HP:0000512Abnormal electroretinogram0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143810012180380
HP:0000512HP:0000512Abnormal electroretinogram0RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM136810012180380
HP:0000512HP:0000512Abnormal electroretinogram0RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM143810012180380
HP:0000512HP:0000512Abnormal electroretinogram0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120010024180090
HP:0000512HP:0000512Abnormal electroretinogram0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124410024180090
HP:0000512HP:0000512Abnormal electroretinogram0RLBP1 CL E G H6017607475Bothnia retinal dystrophy607475C1843816OMIM120010024180090
HP:0000512HP:0000512Abnormal electroretinogram0RLBP1 CL E G H6017607475Bothnia retinal dystrophy607475C1843816OMIM124410024180090
HP:0000512HP:0000512Abnormal electroretinogram0RNF216 CL E G H544761173CDG syndrome type 3ORPHA113421698609948
HP:0000512HP:0000512Abnormal electroretinogram0RNF216 CL E G H544761173CDG syndrome type 3ORPHA117921698609948
HP:0000512HP:0000512Abnormal electroretinogram0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116710254180721
HP:0000512HP:0000512Abnormal electroretinogram0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121410254180721
HP:0000512HP:0000512Abnormal electroretinogram0ROM1 CL E G H6094608133Retinitis pigmentosa 7608133C1842475OMIM116710254180721
HP:0000512HP:0000512Abnormal electroretinogram0ROM1 CL E G H6094608133Retinitis pigmentosa 7608133C1842475OMIM121410254180721
HP:0000512HP:0000512Abnormal electroretinogram0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169110263603937
HP:0000512HP:0000512Abnormal electroretinogram0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA194010263603937
HP:0000512HP:0000512Abnormal electroretinogram0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA134810274300757
HP:0000512HP:0000512Abnormal electroretinogram0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141010274300757
HP:0000512HP:0000512Abnormal electroretinogram0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15410288607331
HP:0000512HP:0000512Abnormal electroretinogram0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15910288607331
HP:0000512HP:0000512Abnormal electroretinogram0RPE65 CL E G H612165ORPHA150010294180069
HP:0000512HP:0000512Abnormal electroretinogram0RPE65 CL E G H612165ORPHA157610294180069
HP:0000512HP:0000512Abnormal electroretinogram0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150010294180069
HP:0000512HP:0000512Abnormal electroretinogram0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA157610294180069
HP:0000512HP:0000512Abnormal electroretinogram0RPGR CL E G H610349382ORPHA180210295312610
HP:0000512HP:0000512Abnormal electroretinogram0RPGR CL E G H610349382ORPHA184710295312610
HP:0000512HP:0000512Abnormal electroretinogram0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA180210295312610
HP:0000512HP:0000512Abnormal electroretinogram0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA184710295312610
HP:0000512HP:0000512Abnormal electroretinogram0RPGRIP1 CL E G H5709665ORPHA157013436605446
HP:0000512HP:0000512Abnormal electroretinogram0RPGRIP1 CL E G H5709665ORPHA170813436605446
HP:0000512HP:0000512Abnormal electroretinogram0RS1 CL E G H6247792ORPHA155110457300839
HP:0000512HP:0000512Abnormal electroretinogram0RS1 CL E G H6247792ORPHA162210457300839
HP:0000512HP:0000512Abnormal electroretinogram0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA123010521181031
HP:0000512HP:0000512Abnormal electroretinogram0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129610521181031
HP:0000512HP:0000512Abnormal electroretinogram0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18613081611611
HP:0000512HP:0000512Abnormal electroretinogram0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18713081611611
HP:0000512HP:0000512Abnormal electroretinogram0SDCCAG8 CL E G H10806110ORPHA134710671613524
HP:0000512HP:0000512Abnormal electroretinogram0SDCCAG8 CL E G H10806110ORPHA143810671613524
HP:0000512HP:0000512Abnormal electroretinogram0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124010729607292
HP:0000512HP:0000512Abnormal electroretinogram0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132310729607292
HP:0000512HP:0000512Abnormal electroretinogram0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121629326615720
HP:0000512HP:0000512Abnormal electroretinogram0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131029326615720
HP:0000512HP:0000512Abnormal electroretinogram0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149730859601664
HP:0000512HP:0000512Abnormal electroretinogram0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162830859601664
HP:0000512HP:0000512Abnormal electroretinogram0SPATA7 CL E G H5581265ORPHA123120423609868
HP:0000512HP:0000512Abnormal electroretinogram0SPATA7 CL E G H5581265ORPHA129620423609868
HP:0000512HP:0000512Abnormal electroretinogram0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA123120423609868
HP:0000512HP:0000512Abnormal electroretinogram0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129620423609868
HP:0000512HP:0000512Abnormal electroretinogram0SUCLA2 CL E G H88031933ORPHA124411448603921
HP:0000512HP:0000512Abnormal electroretinogram0SUCLA2 CL E G H88031933ORPHA127711448603921
HP:0000512HP:0000512Abnormal electroretinogram0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM120111817300356
HP:0000512HP:0000512Abnormal electroretinogram0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM121111817300356
HP:0000512HP:0000512Abnormal electroretinogram0TIMP3 CL E G H7078136900Sorsby fundus dystrophy136900C1850938OMIM119811822188826
HP:0000512HP:0000512Abnormal electroretinogram0TIMP3 CL E G H7078136900Sorsby fundus dystrophy136900C1850938OMIM122211822188826
HP:0000512HP:0000512Abnormal electroretinogram0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130921653609507
HP:0000512HP:0000512Abnormal electroretinogram0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139321653609507
HP:0000512HP:0000512Abnormal electroretinogram0TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM130921653609507
HP:0000512HP:0000512Abnormal electroretinogram0TOPORS CL E G H10210609923Retinitis pigmentosa 31609923C1835923OMIM139321653609507
HP:0000512HP:0000512Abnormal electroretinogram0TRIM32 CL E G H22954110ORPHA141016380602290
HP:0000512HP:0000512Abnormal electroretinogram0TRIM32 CL E G H22954110ORPHA148216380602290
HP:0000512HP:0000512Abnormal electroretinogram0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM18277146603576
HP:0000512HP:0000512Abnormal electroretinogram0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM110267146603576
HP:0000512HP:0000512Abnormal electroretinogram0TTC8 CL E G H123016110ORPHA120420087608132
HP:0000512HP:0000512Abnormal electroretinogram0TTC8 CL E G H123016110ORPHA127520087608132
HP:0000512HP:0000512Abnormal electroretinogram0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120420087608132
HP:0000512HP:0000512Abnormal electroretinogram0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127520087608132
HP:0000512HP:0000512Abnormal electroretinogram0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120012406601197
HP:0000512HP:0000512Abnormal electroretinogram0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129012406601197
HP:0000512HP:0000512Abnormal electroretinogram0TULP1 CL E G H728765ORPHA131112423602280
HP:0000512HP:0000512Abnormal electroretinogram0TULP1 CL E G H728765ORPHA140712423602280
HP:0000512HP:0000512Abnormal electroretinogram0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131112423602280
HP:0000512HP:0000512Abnormal electroretinogram0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA140712423602280
HP:0000512HP:0000512Abnormal electroretinogram0USH1C CL E G H10083231169ORPHA173312597605242
HP:0000512HP:0000512Abnormal electroretinogram0USH1C CL E G H10083231169ORPHA181212597605242
HP:0000512HP:0000512Abnormal electroretinogram0USH1G CL E G H124590231169ORPHA124716356607696
HP:0000512HP:0000512Abnormal electroretinogram0USH1G CL E G H124590231169ORPHA130316356607696
HP:0000512HP:0000512Abnormal electroretinogram0USH2A CL E G H7399231178ORPHA1406112601608400
HP:0000512HP:0000512Abnormal electroretinogram0USH2A CL E G H7399231178ORPHA1482812601608400
HP:0000512HP:0000512Abnormal electroretinogram0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1406112601608400
HP:0000512HP:0000512Abnormal electroretinogram0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482812601608400
HP:0000512HP:0000512Abnormal electroretinogram0USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM1406112601608400
HP:0000512HP:0000512Abnormal electroretinogram0USH2A CL E G H7399613809Retinitis pigmentosa 39613809C3151138OMIM1482812601608400
HP:0000512HP:0000512Abnormal electroretinogram0VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM110512723605020
HP:0000512HP:0000512Abnormal electroretinogram0VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM110612723605020
HP:0000512HP:0000512Abnormal electroretinogram0WDPCP CL E G H51057110ORPHA127528027613580
HP:0000512HP:0000512Abnormal electroretinogram0WDPCP CL E G H51057110ORPHA136728027613580
HP:0000512HP:0000512Abnormal electroretinogram0WHRN CL E G H25861231178ORPHA150016361607928
HP:0000512HP:0000512Abnormal electroretinogram0WHRN CL E G H25861231178ORPHA162516361607928
HP:0000512HP:0000512Abnormal electroretinogram0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121920041616454
HP:0000512HP:0000512Abnormal electroretinogram0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131920041616454
HP:0000512HP:0000512Abnormal electroretinogram0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA118826498613598
HP:0000512HP:0000512Abnormal electroretinogram0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124126498613598
HP:0000512HP:0030466Abnormal full-field electroretinogram1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1212834601691
HP:0000512HP:0030466Abnormal full-field electroretinogram1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1253434601691
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1212834601691
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1253434601691
HP:0000512HP:0030467Abnormal pattern electroretinogram1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1212834601691
HP:0000512HP:0030467Abnormal pattern electroretinogram1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1253434601691
HP:0000512HP:0000550Undetectable electroretinogram1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1212834601691
HP:0000512HP:0000550Undetectable electroretinogram1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1253434601691
HP:0000512HP:0030466Abnormal full-field electroretinogram1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0000512HP:0030466Abnormal full-field electroretinogram1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0000512HP:0030467Abnormal pattern electroretinogram1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0000512HP:0030467Abnormal pattern electroretinogram1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0000512HP:0000550Undetectable electroretinogram1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0000512HP:0000550Undetectable electroretinogram1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0000512HP:0030466Abnormal full-field electroretinogram1ACOX1 CL E G H512971ORPHA1388119609751
HP:0000512HP:0030466Abnormal full-field electroretinogram1ACOX1 CL E G H512971ORPHA1435119609751
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ACOX1 CL E G H512971ORPHA1388119609751
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ACOX1 CL E G H512971ORPHA1435119609751
HP:0000512HP:0030467Abnormal pattern electroretinogram1ACOX1 CL E G H512971ORPHA1388119609751
HP:0000512HP:0030467Abnormal pattern electroretinogram1ACOX1 CL E G H512971ORPHA1435119609751
HP:0000512HP:0000550Undetectable electroretinogram1ACOX1 CL E G H512971ORPHA1388119609751
HP:0000512HP:0000550Undetectable electroretinogram1ACOX1 CL E G H512971ORPHA1435119609751
HP:0000512HP:0030466Abnormal full-field electroretinogram1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000512HP:0030466Abnormal full-field electroretinogram1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000512HP:0030467Abnormal pattern electroretinogram1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000512HP:0030467Abnormal pattern electroretinogram1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000512HP:0000550Undetectable electroretinogram1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000512HP:0000550Undetectable electroretinogram1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000512HP:0030466Abnormal full-field electroretinogram1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126526147615900
HP:0000512HP:0030466Abnormal full-field electroretinogram1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137726147615900
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126526147615900
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137726147615900
HP:0000512HP:0030467Abnormal pattern electroretinogram1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126526147615900
HP:0000512HP:0030467Abnormal pattern electroretinogram1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137726147615900
HP:0000512HP:0000550Undetectable electroretinogram1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126526147615900
HP:0000512HP:0000550Undetectable electroretinogram1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137726147615900
HP:0000512HP:0030466Abnormal full-field electroretinogram1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165021575608894
HP:0000512HP:0030466Abnormal full-field electroretinogram1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA182721575608894
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165021575608894
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA182721575608894
HP:0000512HP:0030467Abnormal pattern electroretinogram1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165021575608894
HP:0000512HP:0030467Abnormal pattern electroretinogram1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA182721575608894
HP:0000512HP:0000550Undetectable electroretinogram1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165021575608894
HP:0000512HP:0000550Undetectable electroretinogram1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA182721575608894
HP:0000512HP:0030466Abnormal full-field electroretinogram1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000512HP:0030466Abnormal full-field electroretinogram1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000512HP:0030467Abnormal pattern electroretinogram1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000512HP:0030467Abnormal pattern electroretinogram1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000512HP:0000550Undetectable electroretinogram1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000512HP:0000550Undetectable electroretinogram1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000512HP:0030466Abnormal full-field electroretinogram1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1204348600253
HP:0000512HP:0030466Abnormal full-field electroretinogram1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1300348600253
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1204348600253
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1300348600253
HP:0000512HP:0030467Abnormal pattern electroretinogram1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1204348600253
HP:0000512HP:0030467Abnormal pattern electroretinogram1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1300348600253
HP:0000512HP:0000550Undetectable electroretinogram1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1204348600253
HP:0000512HP:0000550Undetectable electroretinogram1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1300348600253
HP:0000512HP:0030466Abnormal full-field electroretinogram1AIPL1 CL E G H2374665ORPHA1315359604392
HP:0000512HP:0030466Abnormal full-field electroretinogram1AIPL1 CL E G H2374665ORPHA1374359604392
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AIPL1 CL E G H2374665ORPHA1315359604392
HP:0000512HP:0030468Abnormal multifocal electroretinogram1AIPL1 CL E G H2374665ORPHA1374359604392
HP:0000512HP:0030467Abnormal pattern electroretinogram1AIPL1 CL E G H2374665ORPHA1315359604392
HP:0000512HP:0030467Abnormal pattern electroretinogram1AIPL1 CL E G H2374665ORPHA1374359604392
HP:0000512HP:0000550Undetectable electroretinogram1AIPL1 CL E G H2374665ORPHA1315359604392
HP:0000512HP:0000550Undetectable electroretinogram1AIPL1 CL E G H2374665ORPHA1374359604392
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137617090616432
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA151917090616432
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137617090616432
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA151917090616432
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137617090616432
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA151917090616432
HP:0000512HP:0000550Undetectable electroretinogram1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137617090616432
HP:0000512HP:0000550Undetectable electroretinogram1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA151917090616432
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15117146615407
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17417146615407
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15117146615407
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17417146615407
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15117146615407
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17417146615407
HP:0000512HP:0000550Undetectable electroretinogram1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15117146615407
HP:0000512HP:0000550Undetectable electroretinogram1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17417146615407
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA164694604695
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190694604695
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA164694604695
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190694604695
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA164694604695
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190694604695
HP:0000512HP:0000550Undetectable electroretinogram1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA164694604695
HP:0000512HP:0000550Undetectable electroretinogram1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190694604695
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARL6 CL E G H84100110ORPHA111313210608845
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARL6 CL E G H84100110ORPHA114313210608845
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARL6 CL E G H84100110ORPHA111313210608845
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARL6 CL E G H84100110ORPHA114313210608845
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARL6 CL E G H84100110ORPHA111313210608845
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARL6 CL E G H84100110ORPHA114313210608845
HP:0000512HP:0000550Undetectable electroretinogram1ARL6 CL E G H84100110ORPHA111313210608845
HP:0000512HP:0000550Undetectable electroretinogram1ARL6 CL E G H84100110ORPHA114313210608845
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111313210608845
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114313210608845
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111313210608845
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114313210608845
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111313210608845
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114313210608845
HP:0000512HP:0000550Undetectable electroretinogram1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111313210608845
HP:0000512HP:0000550Undetectable electroretinogram1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114313210608845
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARSG CL E G H22901231183ORPHA117424102610008
HP:0000512HP:0030466Abnormal full-field electroretinogram1ARSG CL E G H22901231183ORPHA125024102610008
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARSG CL E G H22901231183ORPHA117424102610008
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ARSG CL E G H22901231183ORPHA125024102610008
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARSG CL E G H22901231183ORPHA117424102610008
HP:0000512HP:0030467Abnormal pattern electroretinogram1ARSG CL E G H22901231183ORPHA125024102610008
HP:0000512HP:0000550Undetectable electroretinogram1ARSG CL E G H22901231183ORPHA117424102610008
HP:0000512HP:0000550Undetectable electroretinogram1ARSG CL E G H22901231183ORPHA125024102610008
HP:0000512HP:0030466Abnormal full-field electroretinogram1ATF6 CL E G H2292649382ORPHA1178791605537
HP:0000512HP:0030466Abnormal full-field electroretinogram1ATF6 CL E G H2292649382ORPHA1246791605537
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ATF6 CL E G H2292649382ORPHA1178791605537
HP:0000512HP:0030468Abnormal multifocal electroretinogram1ATF6 CL E G H2292649382ORPHA1246791605537
HP:0000512HP:0030467Abnormal pattern electroretinogram1ATF6 CL E G H2292649382ORPHA1178791605537
HP:0000512HP:0030467Abnormal pattern electroretinogram1ATF6 CL E G H2292649382ORPHA1246791605537
HP:0000512HP:0000550Undetectable electroretinogram1ATF6 CL E G H2292649382ORPHA1178791605537
HP:0000512HP:0000550Undetectable electroretinogram1ATF6 CL E G H2292649382ORPHA1246791605537
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBIP1 CL E G H92482110ORPHA15928093613605
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBIP1 CL E G H92482110ORPHA17128093613605
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBIP1 CL E G H92482110ORPHA15928093613605
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBIP1 CL E G H92482110ORPHA17128093613605
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBIP1 CL E G H92482110ORPHA15928093613605
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBIP1 CL E G H92482110ORPHA17128093613605
HP:0000512HP:0000550Undetectable electroretinogram1BBIP1 CL E G H92482110ORPHA15928093613605
HP:0000512HP:0000550Undetectable electroretinogram1BBIP1 CL E G H92482110ORPHA17128093613605
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS1 CL E G H582110ORPHA1491966209901
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS1 CL E G H582110ORPHA1582966209901
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS1 CL E G H582110ORPHA1491966209901
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS1 CL E G H582110ORPHA1582966209901
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS1 CL E G H582110ORPHA1491966209901
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS1 CL E G H582110ORPHA1582966209901
HP:0000512HP:0000550Undetectable electroretinogram1BBS1 CL E G H582110ORPHA1491966209901
HP:0000512HP:0000550Undetectable electroretinogram1BBS1 CL E G H582110ORPHA1582966209901
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS10 CL E G H79738110ORPHA143826291610148
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS10 CL E G H79738110ORPHA152826291610148
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS10 CL E G H79738110ORPHA143826291610148
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS10 CL E G H79738110ORPHA152826291610148
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS10 CL E G H79738110ORPHA143826291610148
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS10 CL E G H79738110ORPHA152826291610148
HP:0000512HP:0000550Undetectable electroretinogram1BBS10 CL E G H79738110ORPHA143826291610148
HP:0000512HP:0000550Undetectable electroretinogram1BBS10 CL E G H79738110ORPHA152826291610148
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS12 CL E G H166379110ORPHA135526648610683
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS12 CL E G H166379110ORPHA143926648610683
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS12 CL E G H166379110ORPHA135526648610683
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS12 CL E G H166379110ORPHA143926648610683
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS12 CL E G H166379110ORPHA135526648610683
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS12 CL E G H166379110ORPHA143926648610683
HP:0000512HP:0000550Undetectable electroretinogram1BBS12 CL E G H166379110ORPHA135526648610683
HP:0000512HP:0000550Undetectable electroretinogram1BBS12 CL E G H166379110ORPHA143926648610683
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS2 CL E G H583110ORPHA1482967606151
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS2 CL E G H583110ORPHA1585967606151
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS2 CL E G H583110ORPHA1482967606151
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS2 CL E G H583110ORPHA1585967606151
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS2 CL E G H583110ORPHA1482967606151
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS2 CL E G H583110ORPHA1585967606151
HP:0000512HP:0000550Undetectable electroretinogram1BBS2 CL E G H583110ORPHA1482967606151
HP:0000512HP:0000550Undetectable electroretinogram1BBS2 CL E G H583110ORPHA1585967606151
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482967606151
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1585967606151
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482967606151
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1585967606151
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482967606151
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1585967606151
HP:0000512HP:0000550Undetectable electroretinogram1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482967606151
HP:0000512HP:0000550Undetectable electroretinogram1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1585967606151
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS4 CL E G H585110ORPHA1299969600374
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS4 CL E G H585110ORPHA1378969600374
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS4 CL E G H585110ORPHA1299969600374
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS4 CL E G H585110ORPHA1378969600374
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS4 CL E G H585110ORPHA1299969600374
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS4 CL E G H585110ORPHA1378969600374
HP:0000512HP:0000550Undetectable electroretinogram1BBS4 CL E G H585110ORPHA1299969600374
HP:0000512HP:0000550Undetectable electroretinogram1BBS4 CL E G H585110ORPHA1378969600374
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS5 CL E G H129880110ORPHA1147970603650
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS5 CL E G H129880110ORPHA1199970603650
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS5 CL E G H129880110ORPHA1147970603650
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS5 CL E G H129880110ORPHA1199970603650
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS5 CL E G H129880110ORPHA1147970603650
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS5 CL E G H129880110ORPHA1199970603650
HP:0000512HP:0000550Undetectable electroretinogram1BBS5 CL E G H129880110ORPHA1147970603650
HP:0000512HP:0000550Undetectable electroretinogram1BBS5 CL E G H129880110ORPHA1199970603650
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS7 CL E G H55212110ORPHA125418758607590
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS7 CL E G H55212110ORPHA132618758607590
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS7 CL E G H55212110ORPHA125418758607590
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS7 CL E G H55212110ORPHA132618758607590
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS7 CL E G H55212110ORPHA125418758607590
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS7 CL E G H55212110ORPHA132618758607590
HP:0000512HP:0000550Undetectable electroretinogram1BBS7 CL E G H55212110ORPHA125418758607590
HP:0000512HP:0000550Undetectable electroretinogram1BBS7 CL E G H55212110ORPHA132618758607590
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS9 CL E G H27241110ORPHA142630000607968
HP:0000512HP:0030466Abnormal full-field electroretinogram1BBS9 CL E G H27241110ORPHA151230000607968
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS9 CL E G H27241110ORPHA142630000607968
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BBS9 CL E G H27241110ORPHA151230000607968
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS9 CL E G H27241110ORPHA142630000607968
HP:0000512HP:0030467Abnormal pattern electroretinogram1BBS9 CL E G H27241110ORPHA151230000607968
HP:0000512HP:0000550Undetectable electroretinogram1BBS9 CL E G H27241110ORPHA142630000607968
HP:0000512HP:0000550Undetectable electroretinogram1BBS9 CL E G H27241110ORPHA151230000607968
HP:0000512HP:0030466Abnormal full-field electroretinogram1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149912703607854
HP:0000512HP:0030466Abnormal full-field electroretinogram1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159512703607854
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149912703607854
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159512703607854
HP:0000512HP:0030467Abnormal pattern electroretinogram1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149912703607854
HP:0000512HP:0030467Abnormal pattern electroretinogram1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159512703607854
HP:0000512HP:0000550Undetectable electroretinogram1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149912703607854
HP:0000512HP:0000550Undetectable electroretinogram1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159512703607854
HP:0000512HP:0030466Abnormal full-field electroretinogram1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0000512HP:0030466Abnormal full-field electroretinogram1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0000512HP:0030467Abnormal pattern electroretinogram1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0000512HP:0030467Abnormal pattern electroretinogram1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0000512HP:0000550Undetectable electroretinogram1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0000512HP:0000550Undetectable electroretinogram1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0000512HP:0030466Abnormal full-field electroretinogram1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000512HP:0030466Abnormal full-field electroretinogram1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000512HP:0030468Abnormal multifocal electroretinogram1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000512HP:0030467Abnormal pattern electroretinogram1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000512HP:0030467Abnormal pattern electroretinogram1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000512HP:0000550Undetectable electroretinogram1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000512HP:0000550Undetectable electroretinogram1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000512HP:0030466Abnormal full-field electroretinogram1C8orf37 CL E G H157657110ORPHA127232614477
HP:0000512HP:0030468Abnormal multifocal electroretinogram1C8orf37 CL E G H157657110ORPHA127232614477
HP:0000512HP:0030467Abnormal pattern electroretinogram1C8orf37 CL E G H157657110ORPHA127232614477
HP:0000512HP:0000550Undetectable electroretinogram1C8orf37 CL E G H157657110ORPHA127232614477
HP:0000512HP:0030466Abnormal full-field electroretinogram1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000512HP:0030468Abnormal multifocal electroretinogram1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000512HP:0030467Abnormal pattern electroretinogram1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000512HP:0000550Undetectable electroretinogram1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000512HP:0030466Abnormal full-field electroretinogram1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421375114760
HP:0000512HP:0030466Abnormal full-field electroretinogram1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11881375114760
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421375114760
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11881375114760
HP:0000512HP:0030467Abnormal pattern electroretinogram1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421375114760
HP:0000512HP:0030467Abnormal pattern electroretinogram1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11881375114760
HP:0000512HP:0000550Undetectable electroretinogram1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421375114760
HP:0000512HP:0000550Undetectable electroretinogram1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11881375114760
HP:0000512HP:0030466Abnormal full-field electroretinogram1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000512HP:0030466Abnormal full-field electroretinogram1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000512HP:0030467Abnormal pattern electroretinogram1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000512HP:0030467Abnormal pattern electroretinogram1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000512HP:0000550Undetectable electroretinogram1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000512HP:0000550Undetectable electroretinogram1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000512HP:0030466Abnormal full-field electroretinogram1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000512HP:0030466Abnormal full-field electroretinogram1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000512HP:0030467Abnormal pattern electroretinogram1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000512HP:0030467Abnormal pattern electroretinogram1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000512HP:0000550Undetectable electroretinogram1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000512HP:0000550Undetectable electroretinogram1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000512HP:0030466Abnormal full-field electroretinogram1CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000512HP:0030466Abnormal full-field electroretinogram1CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000512HP:0030467Abnormal pattern electroretinogram1CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000512HP:0030467Abnormal pattern electroretinogram1CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000512HP:0000550Undetectable electroretinogram1CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000512HP:0000550Undetectable electroretinogram1CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000512HP:0030466Abnormal full-field electroretinogram1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149614550609502
HP:0000512HP:0030466Abnormal full-field electroretinogram1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162314550609502
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149614550609502
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162314550609502
HP:0000512HP:0030467Abnormal pattern electroretinogram1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149614550609502
HP:0000512HP:0030467Abnormal pattern electroretinogram1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162314550609502
HP:0000512HP:0000550Undetectable electroretinogram1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149614550609502
HP:0000512HP:0000550Undetectable electroretinogram1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162314550609502
HP:0000512HP:0030466Abnormal full-field electroretinogram1CEP290 CL E G H8018465ORPHA1153529021610142
HP:0000512HP:0030466Abnormal full-field electroretinogram1CEP290 CL E G H8018465ORPHA1190229021610142
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CEP290 CL E G H8018465ORPHA1153529021610142
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CEP290 CL E G H8018465ORPHA1190229021610142
HP:0000512HP:0030467Abnormal pattern electroretinogram1CEP290 CL E G H8018465ORPHA1153529021610142
HP:0000512HP:0030467Abnormal pattern electroretinogram1CEP290 CL E G H8018465ORPHA1190229021610142
HP:0000512HP:0000550Undetectable electroretinogram1CEP290 CL E G H8018465ORPHA1153529021610142
HP:0000512HP:0000550Undetectable electroretinogram1CEP290 CL E G H8018465ORPHA1190229021610142
HP:0000512HP:0030466Abnormal full-field electroretinogram1CEP290 CL E G H80184110ORPHA1153529021610142
HP:0000512HP:0030466Abnormal full-field electroretinogram1CEP290 CL E G H80184110ORPHA1190229021610142
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CEP290 CL E G H80184110ORPHA1153529021610142
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CEP290 CL E G H80184110ORPHA1190229021610142
HP:0000512HP:0030467Abnormal pattern electroretinogram1CEP290 CL E G H80184110ORPHA1153529021610142
HP:0000512HP:0030467Abnormal pattern electroretinogram1CEP290 CL E G H80184110ORPHA1190229021610142
HP:0000512HP:0000550Undetectable electroretinogram1CEP290 CL E G H80184110ORPHA1153529021610142
HP:0000512HP:0000550Undetectable electroretinogram1CEP290 CL E G H80184110ORPHA1190229021610142
HP:0000512HP:0030466Abnormal full-field electroretinogram1CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000512HP:0030466Abnormal full-field electroretinogram1CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000512HP:0030467Abnormal pattern electroretinogram1CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000512HP:0030467Abnormal pattern electroretinogram1CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000512HP:0000550Undetectable electroretinogram1CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000512HP:0000550Undetectable electroretinogram1CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000512HP:0030466Abnormal full-field electroretinogram1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142721699608381
HP:0000512HP:0030466Abnormal full-field electroretinogram1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150221699608381
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142721699608381
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150221699608381
HP:0000512HP:0030467Abnormal pattern electroretinogram1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142721699608381
HP:0000512HP:0030467Abnormal pattern electroretinogram1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150221699608381
HP:0000512HP:0000550Undetectable electroretinogram1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142721699608381
HP:0000512HP:0000550Undetectable electroretinogram1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150221699608381
HP:0000512HP:0030466Abnormal full-field electroretinogram1CHM CL E G H1121180ORPHA15521940300390
HP:0000512HP:0030466Abnormal full-field electroretinogram1CHM CL E G H1121180ORPHA16201940300390
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CHM CL E G H1121180ORPHA15521940300390
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CHM CL E G H1121180ORPHA16201940300390
HP:0000512HP:0030467Abnormal pattern electroretinogram1CHM CL E G H1121180ORPHA15521940300390
HP:0000512HP:0030467Abnormal pattern electroretinogram1CHM CL E G H1121180ORPHA16201940300390
HP:0000512HP:0000550Undetectable electroretinogram1CHM CL E G H1121180ORPHA15521940300390
HP:0000512HP:0000550Undetectable electroretinogram1CHM CL E G H1121180ORPHA16201940300390
HP:0000512HP:0030466Abnormal full-field electroretinogram1CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000512HP:0030466Abnormal full-field electroretinogram1CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000512HP:0030467Abnormal pattern electroretinogram1CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000512HP:0030467Abnormal pattern electroretinogram1CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000512HP:0000550Undetectable electroretinogram1CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000512HP:0000550Undetectable electroretinogram1CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000512HP:0030466Abnormal full-field electroretinogram1CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000512HP:0030466Abnormal full-field electroretinogram1CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000512HP:0030467Abnormal pattern electroretinogram1CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000512HP:0030467Abnormal pattern electroretinogram1CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000512HP:0000550Undetectable electroretinogram1CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000512HP:0000550Undetectable electroretinogram1CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000512HP:0030466Abnormal full-field electroretinogram1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124212605606397
HP:0000512HP:0030466Abnormal full-field electroretinogram1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127212605606397
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124212605606397
HP:0000512HP:0030468Abnormal multifocal electroretinogram1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127212605606397
HP:0000512HP:0030467Abnormal pattern electroretinogram1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124212605606397
HP:0000512HP:0030467Abnormal pattern electroretinogram1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127212605606397
HP:0000512HP:0000550Undetectable electroretinogram1CLRN1 CL E G H7401791Arthrogryposis