Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
expand
Abnormality of the lens (HP:0000517)help
..Starting node
..expand
Cataract (HP:0000518)help
Term ID: 518
Name: Cataract
Synonym: Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity
Definition: A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Comments:
Reference: HP:0000518
Genes and Diseases:
 
       Child Nodes:
........expandCongenital cataract (HP:0000519) help
................... HP:0008024 Congenital nuclear cataract
........expandSubcapsular cataract (HP:0000523) help
................... HP:0007787 Posterior subcapsular cataract
................... HP:0010923 Anterior subcapsular cataract
........expandJuvenile cataract (HP:0001118) help
................... HP:0007713 Juvenile zonular cataracts
........expandPresenile cataracts (HP:0007819) help
........expandProgressive cataract (HP:0007834) help
........expandPolar cataract (HP:0010696) help
................... HP:0001115 Posterior polar cataract
................... HP:0001134 Anterior polar cataract
........expandTotal cataract (HP:0010700) help
........expandZonular cataract (HP:0010920) help
................... HP:0007648 Punctate cataract
................... HP:0007971 Lamellar cataract
................... HP:0010695 Sutural cataract
................... HP:0010921 Coralliform cataract
................... HP:0025559 Coronary cataract
................... HP:0100018 Nuclear cataract
................... HP:0100019 Cortical cataract
........expandMembranous cataract (HP:0010922) help
........expandAge-related cataract (HP:0011141) help
................... HP:0011142 Age-related nuclear cataract
................... HP:0011143 Age-related cortical cataract
................... HP:0011144 Age-related posterior subcapsular cataract
........expandChristman tree cataract (HP:0025571) help
........expandCapsular cataract (HP:0100017) help
................... HP:0100020 Posterior capsular cataract

 Sister Nodes: 
..expandAbnormality of lens shape (HP:0011526) help
..expandAplasia/Hypoplasia of the lens (HP:0008063) help
..expandEctopia lentis (HP:0001083) help
..expandPhakodonesis (HP:0012629) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000518HP:0000518Cataract0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1212834601691
HP:0000518HP:0000518Cataract0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1253434601691
HP:0000518HP:0000518Cataract0ACTB CL E G H6079107ORPHA1322132102630
HP:0000518HP:0000518Cataract0ACTB CL E G H6079107ORPHA1349132102630
HP:0000518HP:0000518Cataract0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0000518HP:0000518Cataract0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0000518HP:0000518Cataract0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM124113201608990
HP:0000518HP:0000518Cataract0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM136313201608990
HP:0000518HP:0000518Cataract0ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM123219706610113
HP:0000518HP:0000518Cataract0ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM138619706610113
HP:0000518HP:0000518Cataract0ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000518HP:0000518Cataract0ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000518HP:0000518Cataract0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1330318613228
HP:0000518HP:0000518Cataract0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1355318613228
HP:0000518HP:0000518Cataract0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126526147615900
HP:0000518HP:0000518Cataract0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137726147615900
HP:0000518HP:0000518Cataract0AGK CL E G H557501369ORPHA122021869610345
HP:0000518HP:0000518Cataract0AGK CL E G H557501369ORPHA123621869610345
HP:0000518HP:0000518Cataract0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165021575608894
HP:0000518HP:0000518Cataract0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA182721575608894
HP:0000518HP:0000518Cataract0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1204348600253
HP:0000518HP:0000518Cataract0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1300348600253
HP:0000518HP:0000518Cataract0AIPL1 CL E G H2374665ORPHA1315359604392
HP:0000518HP:0000518Cataract0AIPL1 CL E G H2374665ORPHA1374359604392
HP:0000518HP:0000518Cataract0AIRE CL E G H3263453Meier Rotschild syndromeORPHA1641360607358
HP:0000518HP:0000518Cataract0AIRE CL E G H3263453Meier Rotschild syndromeORPHA1718360607358
HP:0000518HP:0000518Cataract0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0000518HP:0000518Cataract0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H583235664ORPHA13469722138250
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H583235664ORPHA13929722138250
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13469722138250
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13929722138250
HP:0000518HP:0000518Cataract0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0000518HP:0000518Cataract0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11467179603178
HP:0000518HP:0000518Cataract0ALG2 CL E G H8536579326ORPHA119323159607905
HP:0000518HP:0000518Cataract0ALG2 CL E G H8536579326ORPHA124123159607905
HP:0000518HP:0000518Cataract0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0000518HP:0000518Cataract0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0000518HP:0000518Cataract0ALG8 CL E G H7905379325ORPHA119323161608103
HP:0000518HP:0000518Cataract0ALG8 CL E G H7905379325ORPHA120923161608103
HP:0000518HP:0000518Cataract0ALMS1 CL E G H784064ORPHA12504428606844
HP:0000518HP:0000518Cataract0ALMS1 CL E G H784064ORPHA13342428606844
HP:0000518HP:0000518Cataract0ALX1 CL E G H8092306542ORPHA1311494601527
HP:0000518HP:0000518Cataract0ALX3 CL E G H257391474ORPHA142449606014
HP:0000518HP:0000518Cataract0ALX3 CL E G H257391474ORPHA143449606014
HP:0000518HP:0000518Cataract0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM142449606014
HP:0000518HP:0000518Cataract0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM143449606014
HP:0000518HP:0000518Cataract0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA117429216610911
HP:0000518HP:0000518Cataract0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA121029216610911
HP:0000518HP:0000518Cataract0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137617090616432
HP:0000518HP:0000518Cataract0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA151917090616432
HP:0000518HP:0000518Cataract0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15117146615407
HP:0000518HP:0000518Cataract0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17417146615407
HP:0000518HP:0000518Cataract0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA164694604695
HP:0000518HP:0000518Cataract0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190694604695
HP:0000518HP:0000518Cataract0ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0000518HP:0000518Cataract0ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0000518HP:0000518Cataract0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111313210608845
HP:0000518HP:0000518Cataract0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114313210608845
HP:0000518HP:0000518Cataract0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0000518HP:0000518Cataract0ARSG CL E G H22901231183ORPHA117424102610008
HP:0000518HP:0000518Cataract0ARSG CL E G H22901231183ORPHA125024102610008
HP:0000518HP:0000518Cataract0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM17513907609875
HP:0000518HP:0000518Cataract0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM110613907609875
HP:0000518HP:0000518Cataract0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM179851607027
HP:0000518HP:0000518Cataract0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM193851607027
HP:0000518HP:0000518Cataract0B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000518HP:0000518Cataract0B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000518HP:0000518Cataract0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0000518HP:0000518Cataract0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0000518HP:0000518Cataract0B3GLCT CL E G H145173709ORPHA122620207610308
HP:0000518HP:0000518Cataract0B3GLCT CL E G H145173709ORPHA124820207610308
HP:0000518HP:0000518Cataract0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000518HP:0000518Cataract0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000518HP:0000518Cataract0B9D1 CL E G H27077564ORPHA119624123614144
HP:0000518HP:0000518Cataract0B9D1 CL E G H27077564ORPHA123024123614144
HP:0000518HP:0000518Cataract0B9D2 CL E G H80776564ORPHA15028636611951
HP:0000518HP:0000518Cataract0B9D2 CL E G H80776564ORPHA15828636611951
HP:0000518HP:0000518Cataract0BBIP1 CL E G H92482615995Bardet-Biedl syndrome 18615995C3806174OMIM15928093613605
HP:0000518HP:0000518Cataract0BBIP1 CL E G H92482615995Bardet-Biedl syndrome 18615995C3806174OMIM17128093613605
HP:0000518HP:0000518Cataract0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000518HP:0000518Cataract0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000518HP:0000518Cataract0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482967606151
HP:0000518HP:0000518Cataract0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1585967606151
HP:0000518HP:0000518Cataract0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA150220893300485
HP:0000518HP:0000518Cataract0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA153620893300485
HP:0000518HP:0000518Cataract0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0000518HP:0000518Cataract0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0000518HP:0000518Cataract0BDNF CL E G H627893ORPHA1561033113505
HP:0000518HP:0000518Cataract0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149912703607854
HP:0000518HP:0000518Cataract0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159512703607854
HP:0000518HP:0000518Cataract0BMP4 CL E G H652139471ORPHA11121071112262
HP:0000518HP:0000518Cataract0BMP4 CL E G H652139471ORPHA11291071112262
HP:0000518HP:0000518Cataract0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000518HP:0000518Cataract0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000518HP:0000518Cataract0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000518HP:0000518Cataract0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000518HP:0000518Cataract0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0000518HP:0000518Cataract0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0000518HP:0000518Cataract0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000518HP:0000518Cataract0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000518HP:0000518Cataract0C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0000518HP:0000518Cataract0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421375114760
HP:0000518HP:0000518Cataract0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11881375114760
HP:0000518HP:0000518Cataract0CASK CL E G H8573163937ORPHA15831497300172
HP:0000518HP:0000518Cataract0CASK CL E G H8573163937ORPHA16331497300172
HP:0000518HP:0000518Cataract0CC2D2A CL E G H57545564ORPHA188129253612013
HP:0000518HP:0000518Cataract0CC2D2A CL E G H57545564ORPHA1106429253612013
HP:0000518HP:0000518Cataract0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM188129253612013
HP:0000518HP:0000518Cataract0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM1106429253612013
HP:0000518HP:0000518Cataract0CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000518HP:0000518Cataract0CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000518HP:0000518Cataract0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149614550609502
HP:0000518HP:0000518Cataract0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162314550609502
HP:0000518HP:0000518Cataract0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM13141857600236
HP:0000518HP:0000518Cataract0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM13521857600236
HP:0000518HP:0000518Cataract0CEP290 CL E G H8018465ORPHA1153529021610142
HP:0000518HP:0000518Cataract0CEP290 CL E G H8018465ORPHA1190229021610142
HP:0000518HP:0000518Cataract0CEP290 CL E G H80184564ORPHA1153529021610142
HP:0000518HP:0000518Cataract0CEP290 CL E G H80184564ORPHA1190229021610142
HP:0000518HP:0000518Cataract0CEP55 CL E G H55165564ORPHA1401161610000
HP:0000518HP:0000518Cataract0CEP55 CL E G H55165564ORPHA1441161610000
HP:0000518HP:0000518Cataract0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000518HP:0000518Cataract0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000518HP:0000518Cataract0CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000518HP:0000518Cataract0CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000518HP:0000518Cataract0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142721699608381
HP:0000518HP:0000518Cataract0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150221699608381
HP:0000518HP:0000518Cataract0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM119729861300350
HP:0000518HP:0000518Cataract0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM120029861300350
HP:0000518HP:0000518Cataract0CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000518HP:0000518Cataract0CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000518HP:0000518Cataract0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM16822074607042
HP:0000518HP:0000518Cataract0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM17662074607042
HP:0000518HP:0000518Cataract0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0000518HP:0000518Cataract0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0000518HP:0000518Cataract0CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000518HP:0000518Cataract0CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000518HP:0000518Cataract0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124212605606397
HP:0000518HP:0000518Cataract0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127212605606397
HP:0000518HP:0000518Cataract0CNBP CL E G H7555606ORPHA11613164116955
HP:0000518HP:0000518Cataract0CNBP CL E G H7555606ORPHA11713164116955
HP:0000518HP:0000518Cataract0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12432148123825
HP:0000518HP:0000518Cataract0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13042148123825
HP:0000518HP:0000518Cataract0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16422151600724
HP:0000518HP:0000518Cataract0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17992151600724
HP:0000518HP:0000518Cataract0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0000518HP:0000518Cataract0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0000518HP:0000518Cataract0COG4 CL E G H2583985172ORPHA122118620606976
HP:0000518HP:0000518Cataract0COG4 CL E G H2583985172ORPHA124718620606976
HP:0000518HP:0000518Cataract0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM122118620606976
HP:0000518HP:0000518Cataract0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM124718620606976
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301560ORPHA110282186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301560ORPHA113392186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H130190654ORPHA110282186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H130190654ORPHA113392186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301250984ORPHA110282186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301250984ORPHA113392186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM110282186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM113392186120280
HP:0000518HP:0000518Cataract0COL2A1 CL E G H128090653ORPHA112132200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H128090653ORPHA115402200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280166011ORPHA112132200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280166011ORPHA115402200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM112132200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM115402200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM112132200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM115402200120140
HP:0000518HP:0000518Cataract0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM112032204120070
HP:0000518HP:0000518Cataract0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM113622204120070
HP:0000518HP:0000518Cataract0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM113862206120131
HP:0000518HP:0000518Cataract0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM115322206120131
HP:0000518HP:0000518Cataract0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0000518HP:0000518Cataract0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0000518HP:0000518Cataract0COL9A1 CL E G H1297250984ORPHA15942217120210
HP:0000518HP:0000518Cataract0COL9A1 CL E G H1297250984ORPHA17442217120210
HP:0000518HP:0000518Cataract0COL9A2 CL E G H1298250984ORPHA13362218120260
HP:0000518HP:0000518Cataract0COL9A2 CL E G H1298250984ORPHA14792218120260
HP:0000518HP:0000518Cataract0COL9A3 CL E G H1299250984ORPHA14642219120270
HP:0000518HP:0000518Cataract0COL9A3 CL E G H1299250984ORPHA17032219120270
HP:0000518HP:0000518Cataract0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11712291300885
HP:0000518HP:0000518Cataract0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11752291300885
HP:0000518HP:0000518Cataract0CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM116023228608841
HP:0000518HP:0000518Cataract0CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM116323228608841
HP:0000518HP:0000518Cataract0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM15052330600650
HP:0000518HP:0000518Cataract0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM16182330600650
HP:0000518HP:0000518Cataract0CRB1 CL E G H2341865ORPHA18942343604210
HP:0000518HP:0000518Cataract0CRB1 CL E G H2341865ORPHA110852343604210
HP:0000518HP:0000518Cataract0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18942343604210
HP:0000518HP:0000518Cataract0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110852343604210
HP:0000518HP:0000518Cataract0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM18942343604210
HP:0000518HP:0000518Cataract0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM110852343604210
HP:0000518HP:0000518Cataract0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000518HP:0000518Cataract0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000518HP:0000518Cataract0CRX CL E G H140665ORPHA13612383602225
HP:0000518HP:0000518Cataract0CRX CL E G H140665ORPHA14192383602225
HP:0000518HP:0000518Cataract0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13612383602225
HP:0000518HP:0000518Cataract0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14192383602225
HP:0000518HP:0000518Cataract0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM13612383602225
HP:0000518HP:0000518Cataract0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM14192383602225
HP:0000518HP:0000518Cataract0CRYAA CL E G H14091377ORPHA11412388123580
HP:0000518HP:0000518Cataract0CRYAA CL E G H14091377ORPHA11502388123580
HP:0000518HP:0000518Cataract0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM11752389123590
HP:0000518HP:0000518Cataract0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12022389123590
HP:0000518HP:0000518Cataract0CRYBA4 CL E G H14131377ORPHA11142396123631
HP:0000518HP:0000518Cataract0CRYBA4 CL E G H14131377ORPHA11182396123631
HP:0000518HP:0000518Cataract0CRYBB1 CL E G H14141377ORPHA1822397600929
HP:0000518HP:0000518Cataract0CRYBB1 CL E G H14141377ORPHA1852397600929
HP:0000518HP:0000518Cataract0CRYBB2 CL E G H14151377ORPHA1972398123620
HP:0000518HP:0000518Cataract0CRYBB2 CL E G H14151377ORPHA11032398123620
HP:0000518HP:0000518Cataract0CRYGC CL E G H14201377ORPHA1672410123680
HP:0000518HP:0000518Cataract0CRYGC CL E G H14201377ORPHA1722410123680
HP:0000518HP:0000518Cataract0CRYGD CL E G H14211377ORPHA1862411123690
HP:0000518HP:0000518Cataract0CRYGD CL E G H14211377ORPHA1922411123690
HP:0000518HP:0000518Cataract0CRYGS CL E G H1427116100Membranous cataract116100C0524524OMIM1642417123730
HP:0000518HP:0000518Cataract0CRYGS CL E G H1427116100Membranous cataract116100C0524524OMIM1712417123730
HP:0000518HP:0000518Cataract0CSPP1 CL E G H79848564ORPHA147626193611654
HP:0000518HP:0000518Cataract0CSPP1 CL E G H79848564ORPHA168726193611654
HP:0000518HP:0000518Cataract0CTDP1 CL E G H915048431ORPHA13232498604927
HP:0000518HP:0000518Cataract0CTDP1 CL E G H915048431ORPHA13482498604927
HP:0000518HP:0000518Cataract0CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000518HP:0000518Cataract0CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000518HP:0000518Cataract0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM14392605606530
HP:0000518HP:0000518Cataract0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM15992605606530
HP:0000518HP:0000518Cataract0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0000518HP:0000518Cataract0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0000518HP:0000518Cataract0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0000518HP:0000518Cataract0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0000518HP:0000518Cataract0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0000518HP:0000518Cataract0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0000518HP:0000518Cataract0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119920603608172
HP:0000518HP:0000518Cataract0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA125620603608172
HP:0000518HP:0000518Cataract0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132817211605584
HP:0000518HP:0000518Cataract0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147017211605584
HP:0000518HP:0000518Cataract0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000518HP:0000518Cataract0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000518HP:0000518Cataract0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA1752910605185
HP:0000518HP:0000518Cataract0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA11092910605185
HP:0000518HP:0000518Cataract0DMPK CL E G H1760273ORPHA12352933605377
HP:0000518HP:0000518Cataract0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0000518HP:0000518Cataract0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA136119189614194
HP:0000518HP:0000518Cataract0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA147219189614194
HP:0000518HP:0000518Cataract0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM11992995191350
HP:0000518HP:0000518Cataract0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12332995191350
HP:0000518HP:0000518Cataract0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000518HP:0000518Cataract0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000518HP:0000518Cataract0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12653133300205
HP:0000518HP:0000518Cataract0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12863133300205
HP:0000518HP:0000518Cataract0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0000518HP:0000518Cataract0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0000518HP:0000518Cataract0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA112228526614789
HP:0000518HP:0000518Cataract0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA113728526614789
HP:0000518HP:0000518Cataract0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000518HP:0000518Cataract0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000518HP:0000518Cataract0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0000518HP:0000518Cataract0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0000518HP:0000518Cataract0ERCC1 CL E G H20671466ORPHA11063433126380
HP:0000518HP:0000518Cataract0ERCC1 CL E G H20671466ORPHA11103433126380
HP:0000518HP:0000518Cataract0ERCC2 CL E G H20681466ORPHA13603434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H20681466ORPHA14793434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM13603434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM14793434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0000518HP:0000518Cataract0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0000518HP:0000518Cataract0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0000518HP:0000518Cataract0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0000518HP:0000518Cataract0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0000518HP:0000518Cataract0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0000518HP:0000518Cataract0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0000518HP:0000518Cataract0ERCC5 CL E G H20731466ORPHA13613437133530
HP:0000518HP:0000518Cataract0ERCC5 CL E G H20731466ORPHA13743437133530
HP:0000518HP:0000518Cataract0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0000518HP:0000518Cataract0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0000518HP:0000518Cataract0ERCC6 CL E G H20741466ORPHA18253438609413
HP:0000518HP:0000518Cataract0ERCC6 CL E G H20741466ORPHA19463438609413
HP:0000518HP:0000518Cataract0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000518HP:0000518Cataract0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000518HP:0000518Cataract0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0000518HP:0000518Cataract0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0000518HP:0000518Cataract0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0000518HP:0000518Cataract0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0000518HP:0000518Cataract0ESCO2 CL E G H1575703103ORPHA134227230609353
HP:0000518HP:0000518Cataract0ESCO2 CL E G H1575703103ORPHA137627230609353
HP:0000518HP:0000518Cataract0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM134227230609353
HP:0000518HP:0000518Cataract0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM137627230609353
HP:0000518HP:0000518Cataract0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1206021555612424
HP:0000518HP:0000518Cataract0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1258921555612424
HP:0000518HP:0000518Cataract0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA136225808613596
HP:0000518HP:0000518Cataract0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145625808613596
HP:0000518HP:0000518Cataract0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM16626222616107
HP:0000518HP:0000518Cataract0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM112626222616107
HP:0000518HP:0000518Cataract0FAS CL E G H3553437ORPHA122711920134637
HP:0000518HP:0000518Cataract0FAS CL E G H3553437ORPHA127511920134637
HP:0000518HP:0000518Cataract0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM149683603134797
HP:0000518HP:0000518Cataract0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM154573603134797
HP:0000518HP:0000518Cataract0FGF5 CL E G H2250190330Trichomegaly190330C0854699OMIM1273683165190
HP:0000518HP:0000518Cataract0FGF5 CL E G H2250190330Trichomegaly190330C0854699OMIM1293683165190
HP:0000518HP:0000518Cataract0FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0000518HP:0000518Cataract0FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0000518HP:0000518Cataract0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0000518HP:0000518Cataract0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0000518HP:0000518Cataract0FKRP CL E G H79147588ORPHA157217997606596
HP:0000518HP:0000518Cataract0FKRP CL E G H79147588ORPHA167117997606596
HP:0000518HP:0000518Cataract0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM157217997606596
HP:0000518HP:0000518Cataract0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM167117997606596
HP:0000518HP:0000518Cataract0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM157217997606596
HP:0000518HP:0000518Cataract0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM167117997606596
HP:0000518HP:0000518Cataract0FKTN CL E G H2218588ORPHA15993622607440
HP:0000518HP:0000518Cataract0FKTN CL E G H2218588ORPHA16793622607440
HP:0000518HP:0000518Cataract0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0000518HP:0000518Cataract0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0000518HP:0000518Cataract0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15993622607440
HP:0000518HP:0000518Cataract0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16793622607440
HP:0000518HP:0000518Cataract0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM17863755603381
HP:0000518HP:0000518Cataract0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM19883755603381
HP:0000518HP:0000518Cataract0FOXC1 CL E G H2296250923ORPHA12533800601090
HP:0000518HP:0000518Cataract0FOXC1 CL E G H2296250923ORPHA13283800601090
HP:0000518HP:0000518Cataract0FOXC2 CL E G H230333001ORPHA11153801602402
HP:0000518HP:0000518Cataract0FOXC2 CL E G H230333001ORPHA11173801602402
HP:0000518HP:0000518Cataract0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM11523808601094
HP:0000518HP:0000518Cataract0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM11763808601094
HP:0000518HP:0000518Cataract0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12773960607643
HP:0000518HP:0000518Cataract0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13863960607643
HP:0000518HP:0000518Cataract0FTL CL E G H2512163Schizophrenia mental retardation deafness retinitisORPHA11093999134790
HP:0000518HP:0000518Cataract0FTL CL E G H2512163Schizophrenia mental retardation deafness retinitisORPHA11383999134790
HP:0000518HP:0000518Cataract0FYCO1 CL E G H79443610019Cataract, autosomal recessive congenital 2610019C1864908OMIM132514673607182
HP:0000518HP:0000518Cataract0FYCO1 CL E G H79443610019Cataract, autosomal recessive congenital 2610019C1864908OMIM133814673607182
HP:0000518HP:0000518Cataract0GALK1 CL E G H258479237ORPHA13554118604313
HP:0000518HP:0000518Cataract0GALK1 CL E G H258479237ORPHA13854118604313
HP:0000518HP:0000518Cataract0GALK1 CL E G H2584230200Deficiency of galactokinase230200C0268155OMIM13554118604313
HP:0000518HP:0000518Cataract0GALK1 CL E G H2584230200Deficiency of galactokinase230200C0268155OMIM13854118604313
HP:0000518HP:0000518Cataract0GALT CL E G H259279239ORPHA15194135606999
HP:0000518HP:0000518Cataract0GALT CL E G H259279239ORPHA15644135606999
HP:0000518HP:0000518Cataract0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM15194135606999
HP:0000518HP:0000518Cataract0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM15644135606999
HP:0000518HP:0000518Cataract0GBA2 CL E G H57704320391ORPHA124618986609471
HP:0000518HP:0000518Cataract0GBA2 CL E G H57704320391ORPHA126218986609471
HP:0000518HP:0000518Cataract0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM124618986609471
HP:0000518HP:0000518Cataract0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM126218986609471
HP:0000518HP:0000518Cataract0GCM2 CL E G H9247146200Hypoparathyroidism familial isolated146200C1832648OMIM11434198603716
HP:0000518HP:0000518Cataract0GCM2 CL E G H9247146200Hypoparathyroidism familial isolated146200C1832648OMIM11464198603716
HP:0000518HP:0000518Cataract0GDF6 CL E G H39225565ORPHA12124221601147
HP:0000518HP:0000518Cataract0GDF6 CL E G H39225565ORPHA12704221601147
HP:0000518HP:0000518Cataract0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114215717606969
HP:0000518HP:0000518Cataract0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114915717606969
HP:0000518HP:0000518Cataract0GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM11104236600924
HP:0000518HP:0000518Cataract0GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM11224236600924
HP:0000518HP:0000518Cataract0GJA1 CL E G H26972710Hm syndromeORPHA11694274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H26972710Hm syndromeORPHA11914274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11694274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11914274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11694274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11914274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11694274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11914274121014
HP:0000518HP:0000518Cataract0GJA8 CL E G H27031377ORPHA13764281600897
HP:0000518HP:0000518Cataract0GJA8 CL E G H27031377ORPHA13914281600897
HP:0000518HP:0000518Cataract0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11454285603324
HP:0000518HP:0000518Cataract0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11564285603324
HP:0000518HP:0000518Cataract0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1534286605425
HP:0000518HP:0000518Cataract0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1544286605425
HP:0000518HP:0000518Cataract0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12144288604418
HP:0000518HP:0000518Cataract0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12234288604418
HP:0000518HP:0000518Cataract0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000518HP:0000518Cataract0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000518HP:0000518Cataract0GLA CL E G H2717324Slti Salem syndromeORPHA18994296300644
HP:0000518HP:0000518Cataract0GLA CL E G H2717324Slti Salem syndromeORPHA19484296300644
HP:0000518HP:0000518Cataract0GMPPB CL E G H29925588ORPHA120322932615320
HP:0000518HP:0000518Cataract0GMPPB CL E G H29925588ORPHA123422932615320
HP:0000518HP:0000518Cataract0GNAS CL E G H277879443ORPHA13334392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H277879443ORPHA13714392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H277879444ORPHA13334392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H277879444ORPHA13714392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H277894089ORPHA13334392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H277894089ORPHA13714392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13334392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13714392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13334392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13714392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13334392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13714392139320
HP:0000518HP:0000518Cataract0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM11934416602744
HP:0000518HP:0000518Cataract0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12414416602744
HP:0000518HP:0000518Cataract0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM14421157608780
HP:0000518HP:0000518Cataract0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM16121157608780
HP:0000518HP:0000518Cataract0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11344679602275
HP:0000518HP:0000518Cataract0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11654679602275
HP:0000518HP:0000518Cataract0GUCY2D CL E G H300065ORPHA15934689600179
HP:0000518HP:0000518Cataract0GUCY2D CL E G H300065ORPHA17314689600179
HP:0000518HP:0000518Cataract0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM15934689600179
HP:0000518HP:0000518Cataract0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM17314689600179
HP:0000518HP:0000518Cataract0HARS CL E G H3035231183ORPHA14816142810
HP:0000518HP:0000518Cataract0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12144837300056
HP:0000518HP:0000518Cataract0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12204837300056
HP:0000518HP:0000518Cataract0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159426527610453
HP:0000518HP:0000518Cataract0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169826527610453
HP:0000518HP:0000518Cataract0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1194931142800
HP:0000518HP:0000518Cataract0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM11945017142992
HP:0000518HP:0000518Cataract0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM12575017142992
HP:0000518HP:0000518Cataract0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM11585037607137
HP:0000518HP:0000518Cataract0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12045037607137
HP:0000518HP:0000518Cataract0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0000518HP:0000518Cataract0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0000518HP:0000518Cataract0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0000518HP:0000518Cataract0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0000518HP:0000518Cataract0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM19614348606441
HP:0000518HP:0000518Cataract0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM113214348606441
HP:0000518HP:0000518Cataract0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM117729685612801
HP:0000518HP:0000518Cataract0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM124629685612801
HP:0000518HP:0000518Cataract0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11595385604526
HP:0000518HP:0000518Cataract0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12025385604526
HP:0000518HP:0000518Cataract0IFT140 CL E G H974265ORPHA185129077614620
HP:0000518HP:0000518Cataract0IFT140 CL E G H974265ORPHA1109829077614620
HP:0000518HP:0000518Cataract0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA185129077614620
HP:0000518HP:0000518Cataract0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1109829077614620
HP:0000518HP:0000518Cataract0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158730391607386
HP:0000518HP:0000518Cataract0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA180530391607386
HP:0000518HP:0000518Cataract0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16120606600595
HP:0000518HP:0000518Cataract0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110720606600595
HP:0000518HP:0000518Cataract0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0000518HP:0000518Cataract0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0000518HP:0000518Cataract0IMPDH1 CL E G H361465ORPHA12836052146690
HP:0000518HP:0000518Cataract0IMPDH1 CL E G H361465ORPHA13456052146690
HP:0000518HP:0000518Cataract0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12836052146690
HP:0000518HP:0000518Cataract0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13456052146690
HP:0000518HP:0000518Cataract0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149818362607056
HP:0000518HP:0000518Cataract0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162618362607056
HP:0000518HP:0000518Cataract0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM146621474613037
HP:0000518HP:0000518Cataract0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM155921474613037
HP:0000518HP:0000518Cataract0INPP5K CL E G H51763559ORPHA114533882607875
HP:0000518HP:0000518Cataract0INPP5K CL E G H51763559ORPHA115333882607875
HP:0000518HP:0000518Cataract0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM114533882607875
HP:0000518HP:0000518Cataract0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115333882607875
HP:0000518HP:0000518Cataract0IQCB1 CL E G H965765ORPHA127628949609237
HP:0000518HP:0000518Cataract0IQCB1 CL E G H965765ORPHA135228949609237
HP:0000518HP:0000518Cataract0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0000518HP:0000518Cataract0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0000518HP:0000518Cataract0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0000518HP:0000518Cataract0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0000518HP:0000518Cataract0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM116415532606871
HP:0000518HP:0000518Cataract0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM118415532606871
HP:0000518HP:0000518Cataract0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0000518HP:0000518Cataract0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H376965ORPHA11466259603208
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H376965ORPHA11746259603208
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM11466259603208
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM11746259603208
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H3769193230Snowflake vitreoretinal degeneration193230C1860405OMIM11466259603208
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H3769193230Snowflake vitreoretinal degeneration193230C1860405OMIM11746259603208
HP:0000518HP:0000518Cataract0KCTD1 CL E G H2842522036ORPHA16418249613420
HP:0000518HP:0000518Cataract0KCTD1 CL E G H2842522036ORPHA16818249613420
HP:0000518HP:0000518Cataract0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA1934021136440
HP:0000518HP:0000518Cataract0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA1964021136440
HP:0000518HP:0000518Cataract0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM122326953611565
HP:0000518HP:0000518Cataract0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM123226953611565
HP:0000518HP:0000518Cataract0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160922219613344
HP:0000518HP:0000518Cataract0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA183722219613344
HP:0000518HP:0000518Cataract0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14056388148760
HP:0000518HP:0000518Cataract0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14986388148760
HP:0000518HP:0000518Cataract0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA118215865615757
HP:0000518HP:0000518Cataract0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126215865615757
HP:0000518HP:0000518Cataract0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117615646611119
HP:0000518HP:0000518Cataract0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121115646611119
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215588ORPHA15166511603590
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215588ORPHA15976511603590
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15166511603590
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15976511603590
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15166511603590
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15976511603590
HP:0000518HP:0000518Cataract0LCA5 CL E G H16769165ORPHA137431923611408
HP:0000518HP:0000518Cataract0LCA5 CL E G H16769165ORPHA145831923611408
HP:0000518HP:0000518Cataract0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM13746654602575
HP:0000518HP:0000518Cataract0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM14306654602575
HP:0000518HP:0000518Cataract0LONP1 CL E G H93611458ORPHA12219479605490
HP:0000518HP:0000518Cataract0LONP1 CL E G H93611458ORPHA13579479605490
HP:0000518HP:0000518Cataract0LRAT CL E G H922765ORPHA11826685604863
HP:0000518HP:0000518Cataract0LRAT CL E G H922765ORPHA12056685604863
HP:0000518HP:0000518Cataract0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11826685604863
HP:0000518HP:0000518Cataract0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12056685604863
HP:0000518HP:0000518Cataract0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM18616697603506
HP:0000518HP:0000518Cataract0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM111276697603506
HP:0000518HP:0000518Cataract0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM1546758604357
HP:0000518HP:0000518Cataract0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM1566758604357
HP:0000518HP:0000518Cataract0MAF CL E G H40941377ORPHA12476776177075
HP:0000518HP:0000518Cataract0MAF CL E G H40941377ORPHA12786776177075
HP:0000518HP:0000518Cataract0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12436816154235
HP:0000518HP:0000518Cataract0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13176816154235
HP:0000518HP:0000518Cataract0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM139728845610197
HP:0000518HP:0000518Cataract0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM146428845610197
HP:0000518HP:0000518Cataract0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14637027604705
HP:0000518HP:0000518Cataract0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15747027604705
HP:0000518HP:0000518Cataract0MIP CL E G H4284615274Cataract 15, multiple types615274C3809001OMIM1867103154050
HP:0000518HP:0000518Cataract0MIP CL E G H4284615274Cataract 15, multiple types615274C3809001OMIM1877103154050
HP:0000518HP:0000518Cataract0MKS1 CL E G H54903564ORPHA14777121609883
HP:0000518HP:0000518Cataract0MKS1 CL E G H54903564ORPHA15537121609883
HP:0000518HP:0000518Cataract0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000518HP:0000518Cataract0MVK CL E G H459829ORPHA13717530251170
HP:0000518HP:0000518Cataract0MVK CL E G H459829ORPHA14017530251170
HP:0000518HP:0000518Cataract0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM13717530251170
HP:0000518HP:0000518Cataract0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM14017530251170
HP:0000518HP:0000518Cataract0MYO7A CL E G H4647231169ORPHA122237606276903
HP:0000518HP:0000518Cataract0MYO7A CL E G H4647231169ORPHA125167606276903
HP:0000518HP:0000518Cataract0MYO7A CL E G H4647231178ORPHA122237606276903
HP:0000518HP:0000518Cataract0MYO7A CL E G H4647231178ORPHA125167606276903
HP:0000518HP:0000518Cataract0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0000518HP:0000518Cataract0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0000518HP:0000518Cataract0NAGA CL E G H466879281ORPHA11577631104170
HP:0000518HP:0000518Cataract0NAGA CL E G H466879281ORPHA11697631104170
HP:0000518HP:0000518Cataract0NDP CL E G H4693649ORPHA12457678300658
HP:0000518HP:0000518Cataract0NDP CL E G H4693649ORPHA12637678300658
HP:0000518HP:0000518Cataract0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12457678300658
HP:0000518HP:0000518Cataract0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM12637678300658
HP:0000518HP:0000518Cataract0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM117720372300403
HP:0000518HP:0000518Cataract0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM118320372300403
HP:0000518HP:0000518Cataract0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1397745604043
HP:0000518HP:0000518Cataract0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11047745604043
HP:0000518HP:0000518Cataract0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11157758608272
HP:0000518HP:0000518Cataract0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11347758608272
HP:0000518HP:0000518Cataract0NF2 CL E G H4771637ORPHA110167773607379
HP:0000518HP:0000518Cataract0NF2 CL E G H4771637ORPHA111677773607379
HP:0000518HP:0000518Cataract0NHS CL E G H4810627ORPHA14057820300457
HP:0000518HP:0000518Cataract0NHS CL E G H4810627ORPHA14217820300457
HP:0000518HP:0000518Cataract0NMNAT1 CL E G H6480265ORPHA114417877608700
HP:0000518HP:0000518Cataract0NMNAT1 CL E G H6480265ORPHA118017877608700
HP:0000518HP:0000518Cataract0NOD2 CL E G H6412790340ORPHA15615331605956
HP:0000518HP:0000518Cataract0NOD2 CL E G H6412790340ORPHA16535331605956
HP:0000518HP:0000518Cataract0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000518HP:0000518Cataract0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000518HP:0000518Cataract0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA119337881190198
HP:0000518HP:0000518Cataract0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA121587881190198
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13637974604485
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14227974604485
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002268100Enhanced s-cone syndrome268100C1849394OMIM13637974604485
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002268100Enhanced s-cone syndrome268100C1849394OMIM14227974604485
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002611131Retinitis pigmentosa 37611131C1970163OMIM13637974604485
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002611131Retinitis pigmentosa 37611131C1970163OMIM14227974604485
HP:0000518HP:0000518Cataract0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11648002162080
HP:0000518HP:0000518Cataract0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12178002162080
HP:0000518HP:0000518Cataract0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000518HP:0000518Cataract0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000518HP:0000518Cataract0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16472567300170
HP:0000518HP:0000518Cataract0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17232567300170
HP:0000518HP:0000518Cataract0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM11388522600037
HP:0000518HP:0000518Cataract0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM11628522600037
HP:0000518HP:0000518Cataract0P3H2 CL E G H55214614292Myopia, high, with cataract and vitreoretinal degeneration614292C3280346OMIM136019317610341
HP:0000518HP:0000518Cataract0P3H2 CL E G H55214614292Myopia, high, with cataract and vitreoretinal degeneration614292C3280346OMIM146619317610341
HP:0000518HP:0000518Cataract0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM111648582612349
HP:0000518HP:0000518Cataract0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM112158582612349
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080893ORPHA15778620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080893ORPHA16328620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H50802253ORPHA15778620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H50802253ORPHA16328620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080250923ORPHA15778620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080250923ORPHA16328620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15778620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM16328620607108
HP:0000518HP:0000518Cataract0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160334383613425
HP:0000518HP:0000518Cataract0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177534383613425
HP:0000518HP:0000518Cataract0PCDH15 CL E G H65217231169ORPHA1170914674605514
HP:0000518HP:0000518Cataract0PCDH15 CL E G H65217231169ORPHA1198514674605514
HP:0000518HP:0000518Cataract0PCYT1A CL E G H513065ORPHA12098754123695
HP:0000518HP:0000518Cataract0PCYT1A CL E G H513065ORPHA12618754123695
HP:0000518HP:0000518Cataract0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14968785180071
HP:0000518HP:0000518Cataract0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16088785180071
HP:0000518HP:0000518Cataract0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16988786180072
HP:0000518HP:0000518Cataract0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18498786180072
HP:0000518HP:0000518Cataract0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1708789180073
HP:0000518HP:0000518Cataract0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1818789180073
HP:0000518HP:0000518Cataract0PDZD7 CL E G H79955231178ORPHA143326257612971
HP:0000518HP:0000518Cataract0PDZD7 CL E G H79955231178ORPHA160726257612971
HP:0000518HP:0000518Cataract0PEX1 CL E G H5189912ORPHA17938850602136
HP:0000518HP:0000518Cataract0PEX1 CL E G H5189912ORPHA19518850602136
HP:0000518HP:0000518Cataract0PEX1 CL E G H518944MYBPC1-related conditionORPHA17938850602136
HP:0000518HP:0000518Cataract0PEX1 CL E G H518944MYBPC1-related conditionORPHA19518850602136
HP:0000518HP:0000518Cataract0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM17938850602136
HP:0000518HP:0000518Cataract0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM19518850602136
HP:0000518HP:0000518Cataract0PEX10 CL E G H5192912ORPHA14808851602859
HP:0000518HP:0000518Cataract0PEX10 CL E G H5192912ORPHA15788851602859
HP:0000518HP:0000518Cataract0PEX10 CL E G H519244MYBPC1-related conditionORPHA14808851602859
HP:0000518HP:0000518Cataract0PEX10 CL E G H519244MYBPC1-related conditionORPHA15788851602859
HP:0000518HP:0000518Cataract0PEX11B CL E G H8799912ORPHA12848853603867
HP:0000518HP:0000518Cataract0PEX11B CL E G H8799912ORPHA13328853603867
HP:0000518HP:0000518Cataract0PEX11B CL E G H879944MYBPC1-related conditionORPHA12848853603867
HP:0000518HP:0000518Cataract0PEX11B CL E G H879944MYBPC1-related conditionORPHA13328853603867
HP:0000518HP:0000518Cataract0PEX12 CL E G H5193912ORPHA12458854601758
HP:0000518HP:0000518Cataract0PEX12 CL E G H5193912ORPHA13208854601758
HP:0000518HP:0000518Cataract0PEX12 CL E G H519344MYBPC1-related conditionORPHA12458854601758
HP:0000518HP:0000518Cataract0PEX12 CL E G H519344MYBPC1-related conditionORPHA13208854601758
HP:0000518HP:0000518Cataract0PEX13 CL E G H5194912ORPHA12348855601789
HP:0000518HP:0000518Cataract0PEX13 CL E G H5194912ORPHA13428855601789
HP:0000518HP:0000518Cataract0PEX13 CL E G H519444MYBPC1-related conditionORPHA12348855601789
HP:0000518HP:0000518Cataract0PEX13 CL E G H519444MYBPC1-related conditionORPHA13428855601789
HP:0000518HP:0000518Cataract0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM12348855601789
HP:0000518HP:0000518Cataract0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM13428855601789
HP:0000518HP:0000518Cataract0PEX14 CL E G H5195912ORPHA12348856601791
HP:0000518HP:0000518Cataract0PEX14 CL E G H5195912ORPHA13118856601791
HP:0000518HP:0000518Cataract0PEX14 CL E G H519544MYBPC1-related conditionORPHA12348856601791
HP:0000518HP:0000518Cataract0PEX14 CL E G H519544MYBPC1-related conditionORPHA13118856601791
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409912ORPHA12038857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409912ORPHA12828857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H940944MYBPC1-related conditionORPHA12038857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H940944MYBPC1-related conditionORPHA12828857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409614876Peroxisome biogenesis disorder 8A614876C3553959OMIM12038857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409614876Peroxisome biogenesis disorder 8A614876C3553959OMIM12828857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM12038857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM12828857603360
HP:0000518HP:0000518Cataract0PEX19 CL E G H5824912ORPHA11819713600279
HP:0000518HP:0000518Cataract0PEX19 CL E G H5824912ORPHA12499713600279
HP:0000518HP:0000518Cataract0PEX19 CL E G H582444MYBPC1-related conditionORPHA11819713600279
HP:0000518HP:0000518Cataract0PEX19 CL E G H582444MYBPC1-related conditionORPHA12499713600279
HP:0000518HP:0000518Cataract0PEX2 CL E G H5828912ORPHA12549717170993
HP:0000518HP:0000518Cataract0PEX2 CL E G H5828912ORPHA13199717170993
HP:0000518HP:0000518Cataract0PEX2 CL E G H582844MYBPC1-related conditionORPHA12549717170993
HP:0000518HP:0000518Cataract0PEX2 CL E G H582844MYBPC1-related conditionORPHA13199717170993
HP:0000518HP:0000518Cataract0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM12549717170993
HP:0000518HP:0000518Cataract0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM13199717170993
HP:0000518HP:0000518Cataract0PEX26 CL E G H55670912ORPHA131522965608666
HP:0000518HP:0000518Cataract0PEX26 CL E G H55670912ORPHA139222965608666
HP:0000518HP:0000518Cataract0PEX26 CL E G H5567044MYBPC1-related conditionORPHA131522965608666
HP:0000518HP:0000518Cataract0PEX26 CL E G H5567044MYBPC1-related conditionORPHA139222965608666
HP:0000518HP:0000518Cataract0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM131522965608666
HP:0000518HP:0000518Cataract0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM139222965608666
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504912ORPHA11588858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504912ORPHA12198858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H850444MYBPC1-related conditionORPHA11588858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H850444MYBPC1-related conditionORPHA12198858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM11588858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM12198858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM11588858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM12198858603164
HP:0000518HP:0000518Cataract0PEX5 CL E G H5830912ORPHA14069719600414
HP:0000518HP:0000518Cataract0PEX5 CL E G H5830912ORPHA15639719600414
HP:0000518HP:0000518Cataract0PEX5 CL E G H583044MYBPC1-related conditionORPHA14069719600414
HP:0000518HP:0000518Cataract0PEX5 CL E G H583044MYBPC1-related conditionORPHA15639719600414
HP:0000518HP:0000518Cataract0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0000518HP:0000518Cataract0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0000518HP:0000518Cataract0PEX6 CL E G H5190912ORPHA16458859601498
HP:0000518HP:0000518Cataract0PEX6 CL E G H5190912ORPHA18558859601498
HP:0000518HP:0000518Cataract0PEX6 CL E G H519044MYBPC1-related conditionORPHA16458859601498
HP:0000518HP:0000518Cataract0PEX6 CL E G H519044MYBPC1-related conditionORPHA18558859601498
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191773ORPHA13108860601757
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191773ORPHA13638860601757
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM13108860601757
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM13638860601757
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13108860601757
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13638860601757
HP:0000518HP:0000518Cataract0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM12818923606879
HP:0000518HP:0000518Cataract0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM14078923606879
HP:0000518HP:0000518Cataract0PHYH CL E G H5264773ORPHA12018940602026
HP:0000518HP:0000518Cataract0PHYH CL E G H5264773ORPHA12608940602026
HP:0000518HP:0000518Cataract0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12018940602026
HP:0000518HP:0000518Cataract0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12608940602026
HP:0000518HP:0000518Cataract0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM15448975171834
HP:0000518HP:0000518Cataract0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM16138975171834
HP:0000518HP:0000518Cataract0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM12628979171833
HP:0000518HP:0000518Cataract0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM13078979171833
HP:0000518HP:0000518Cataract0PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0000518HP:0000518Cataract0PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1419006602669
HP:0000518HP:0000518Cataract0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM121911397605031
HP:0000518HP:0000518Cataract0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM133911397605031
HP:0000518HP:0000518Cataract0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM11239083603066
HP:0000518HP:0000518Cataract0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM12259083603066
HP:0000518HP:0000518Cataract0PMPCA CL E G H232031170ORPHA112818667613036
HP:0000518HP:0000518Cataract0PMPCA CL E G H232031170ORPHA113418667613036
HP:0000518HP:0000518Cataract0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM124123166610316
HP:0000518HP:0000518Cataract0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM139823166610316
HP:0000518HP:0000518Cataract0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM114709179174763
HP:0000518HP:0000518Cataract0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM117129179174763
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624588ORPHA166219139606822
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624588ORPHA179719139606822
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166219139606822
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179719139606822
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM166219139606822
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM179719139606822
HP:0000518HP:0000518Cataract0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM119226267615247
HP:0000518HP:0000518Cataract0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM122426267615247
HP:0000518HP:0000518Cataract0POMT1 CL E G H10585588ORPHA16099202607423
HP:0000518HP:0000518Cataract0POMT1 CL E G H10585588ORPHA16869202607423
HP:0000518HP:0000518Cataract0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16099202607423
HP:0000518HP:0000518Cataract0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16869202607423
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954588ORPHA160419743607439
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954588ORPHA169119743607439
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM160419743607439
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM169119743607439
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM160419743607439
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM169119743607439
HP:0000518HP:0000518Cataract0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12609330300463
HP:0000518HP:0000518Cataract0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12659330300463
HP:0000518HP:0000518Cataract0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110232528610598
HP:0000518HP:0000518Cataract0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111432528610598
HP:0000518HP:0000518Cataract0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15099454604365
HP:0000518HP:0000518Cataract0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16439454604365
HP:0000518HP:0000518Cataract0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116617348607301
HP:0000518HP:0000518Cataract0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120217348607301
HP:0000518HP:0000518Cataract0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129315446606419
HP:0000518HP:0000518Cataract0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141315446606419
HP:0000518HP:0000518Cataract0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112617349607795
HP:0000518HP:0000518Cataract0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116917349607795
HP:0000518HP:0000518Cataract0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127815860613979
HP:0000518HP:0000518Cataract0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA134215860613979
HP:0000518HP:0000518Cataract0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160017340607300
HP:0000518HP:0000518Cataract0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasia