Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Abnormality of the lens (HP:0000517)help
..Starting node
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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 hypoplasiaORPHA11280211234601691
HP:0000518HP:0000518Cataract0ACTB CL E G H6079107ORPHA165306132102630
HP:0000518HP:0000518Cataract0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165306132102630
HP:0000518HP:0000518Cataract0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM11523913201608990
HP:0000518HP:0000518Cataract0ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM12722719706610113
HP:0000518HP:0000518Cataract0ADGRV1 CL E G H84059231178ORPHA1249240517416602851
HP:0000518HP:0000518Cataract0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138327318613228
HP:0000518HP:0000518Cataract0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1926526147615900
HP:0000518HP:0000518Cataract0AGK CL E G H557501369ORPHA12721921869610345
HP:0000518HP:0000518Cataract0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19663421575608894
HP:0000518HP:0000518Cataract0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14204348600253
HP:0000518HP:0000518Cataract0AIPL1 CL E G H2374665ORPHA179312359604392
HP:0000518HP:0000518Cataract0AIRE CL E G H3263453Meier Rotschild syndromeORPHA1141638360607358
HP:0000518HP:0000518Cataract0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112379391164730
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H583235664ORPHA1333309722138250
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1333309722138250
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1333309722138250
HP:0000518HP:0000518Cataract0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161337179603178
HP:0000518HP:0000518Cataract0ALG2 CL E G H8536579326ORPHA1519123159607905
HP:0000518HP:0000518Cataract0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1519123159607905
HP:0000518HP:0000518Cataract0ALG8 CL E G H7905379325ORPHA11718823161608103
HP:0000518HP:0000518Cataract0ALMS1 CL E G H784064ORPHA13162446428606844
HP:0000518HP:0000518Cataract0ALX1 CL E G H8092306542ORPHA15311494601527
HP:0000518HP:0000518Cataract0ALX3 CL E G H257391474ORPHA1842449606014
HP:0000518HP:0000518Cataract0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1842449606014
HP:0000518HP:0000518Cataract0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1716429216610911
HP:0000518HP:0000518Cataract0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1737617090616432
HP:0000518HP:0000518Cataract0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA155117146615407
HP:0000518HP:0000518Cataract0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1363694604695
HP:0000518HP:0000518Cataract0ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM1363694604695
HP:0000518HP:0000518Cataract0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12110913210608845
HP:0000518HP:0000518Cataract0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM146719300180
HP:0000518HP:0000518Cataract0ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000518HP:0000518Cataract0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM197513907609875
HP:0000518HP:0000518Cataract0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1975851607027
HP:0000518HP:0000518Cataract0B3GALNT2 CL E G H148789588ORPHA11633628596610194
HP:0000518HP:0000518Cataract0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11633628596610194
HP:0000518HP:0000518Cataract0B3GLCT CL E G H145173709ORPHA11522420207610308
HP:0000518HP:0000518Cataract0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11522420207610308
HP:0000518HP:0000518Cataract0B9D1 CL E G H27077564ORPHA11019524123614144
HP:0000518HP:0000518Cataract0B9D2 CL E G H80776564ORPHA145028636611951
HP:0000518HP:0000518Cataract0BBIP1 CL E G H92482615995Bardet-Biedl syndrome 18615995C3806174OMIM115928093613605
HP:0000518HP:0000518Cataract0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105489966209901
HP:0000518HP:0000518Cataract0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196478967606151
HP:0000518HP:0000518Cataract0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA15548220893300485
HP:0000518HP:0000518Cataract0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1372461020603647
HP:0000518HP:0000518Cataract0BDNF CL E G H627893ORPHA135561033113505
HP:0000518HP:0000518Cataract0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131949212703607854
HP:0000518HP:0000518Cataract0BMP4 CL E G H652139471ORPHA1481061071112262
HP:0000518HP:0000518Cataract0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120861148602452
HP:0000518HP:0000518Cataract0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1294991149602860
HP:0000518HP:0000518Cataract0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1294991149602860
HP:0000518HP:0000518Cataract0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16511151603719
HP:0000518HP:0000518Cataract0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11727232614477
HP:0000518HP:0000518Cataract0C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM11727232614477
HP:0000518HP:0000518Cataract0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1101411375114760
HP:0000518HP:0000518Cataract0CASK CL E G H8573163937ORPHA11195591497300172
HP:0000518HP:0000518Cataract0CC2D2A CL E G H57545564ORPHA19686529253612013
HP:0000518HP:0000518Cataract0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM19686529253612013
HP:0000518HP:0000518Cataract0CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0000518HP:0000518Cataract0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14949514550609502
HP:0000518HP:0000518Cataract0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM182971857600236
HP:0000518HP:0000518Cataract0CEP290 CL E G H80184564ORPHA1310151729021610142
HP:0000518HP:0000518Cataract0CEP290 CL E G H8018465ORPHA1310151729021610142
HP:0000518HP:0000518Cataract0CEP55 CL E G H55165564ORPHA12401161610000
HP:0000518HP:0000518Cataract0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1521230794607951
HP:0000518HP:0000518Cataract0CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000518HP:0000518Cataract0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13942321699608381
HP:0000518HP:0000518Cataract0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12119529861300350
HP:0000518HP:0000518Cataract0CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0000518HP:0000518Cataract0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1736722074607042
HP:0000518HP:0000518Cataract0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12533430664616254
HP:0000518HP:0000518Cataract0CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000518HP:0000518Cataract0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13923912605606397
HP:0000518HP:0000518Cataract0CNBP CL E G H7555606ORPHA111513164116955
HP:0000518HP:0000518Cataract0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1332432148123825
HP:0000518HP:0000518Cataract0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1626392151600724
HP:0000518HP:0000518Cataract0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM11265892153605080
HP:0000518HP:0000518Cataract0COG4 CL E G H2583985172ORPHA1620918620606976
HP:0000518HP:0000518Cataract0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM1620918620606976
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301250984ORPHA11069382186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301560ORPHA11069382186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H130190654ORPHA11069382186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11069382186120280
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280166011ORPHA157011422200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H128090653ORPHA157011422200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM157011422200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM157011422200120140
HP:0000518HP:0000518Cataract0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM127211732204120070
HP:0000518HP:0000518Cataract0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM123313472206120131
HP:0000518HP:0000518Cataract0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM182816442214120120
HP:0000518HP:0000518Cataract0COL9A1 CL E G H1297250984ORPHA165632217120210
HP:0000518HP:0000518Cataract0COL9A2 CL E G H1298250984ORPHA1133152218120260
HP:0000518HP:0000518Cataract0COL9A3 CL E G H1299250984ORPHA1174322219120270
HP:0000518HP:0000518Cataract0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151682291300885
HP:0000518HP:0000518Cataract0CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM1615723228608841
HP:0000518HP:0000518Cataract0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11135012330600650
HP:0000518HP:0000518Cataract0CRB1 CL E G H2341865ORPHA13478902343604210
HP:0000518HP:0000518Cataract0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13478902343604210
HP:0000518HP:0000518Cataract0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13478902343604210
HP:0000518HP:0000518Cataract0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13649482348600140
HP:0000518HP:0000518Cataract0CRX CL E G H140665ORPHA11073602383602225
HP:0000518HP:0000518Cataract0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11073602383602225
HP:0000518HP:0000518Cataract0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11073602383602225
HP:0000518HP:0000518Cataract0CRYAA CL E G H14091377ORPHA1271402388123580
HP:0000518HP:0000518Cataract0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM1301712389123590
HP:0000518HP:0000518Cataract0CRYBA4 CL E G H14131377ORPHA1101102396123631
HP:0000518HP:0000518Cataract0CRYBB1 CL E G H14141377ORPHA120792397600929
HP:0000518HP:0000518Cataract0CRYBB2 CL E G H14151377ORPHA127962398123620
HP:0000518HP:0000518Cataract0CRYGC CL E G H14201377ORPHA128662410123680
HP:0000518HP:0000518Cataract0CRYGD CL E G H14211377ORPHA127852411123690
HP:0000518HP:0000518Cataract0CRYGS CL E G H1427116100Membranous cataract116100C0524524OMIM19632417123730
HP:0000518HP:0000518Cataract0CSPP1 CL E G H79848564ORPHA12745726193611654
HP:0000518HP:0000518Cataract0CTDP1 CL E G H915048431ORPHA113222498604927
HP:0000518HP:0000518Cataract0CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0000518HP:0000518Cataract0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11164392605606530
HP:0000518HP:0000518Cataract0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113732666128239
HP:0000518HP:0000518Cataract0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117942718600811
HP:0000518HP:0000518Cataract0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12185052860602858
HP:0000518HP:0000518Cataract0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1819920603608172
HP:0000518HP:0000518Cataract0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1232817211605584
HP:0000518HP:0000518Cataract0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753942890300126
HP:0000518HP:0000518Cataract0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119682910605185
HP:0000518HP:0000518Cataract0DMPK CL E G H1760273ORPHA182352933605377
HP:0000518HP:0000518Cataract0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182352933605377
HP:0000518HP:0000518Cataract0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12234519189614194
HP:0000518HP:0000518Cataract0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421972995191350
HP:0000518HP:0000518Cataract0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912603133300205
HP:0000518HP:0000518Cataract0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912603133300205
HP:0000518HP:0000518Cataract0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19783188605984
HP:0000518HP:0000518Cataract0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA1912128526614789
HP:0000518HP:0000518Cataract0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11076283373602700
HP:0000518HP:0000518Cataract0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA16879029331615068
HP:0000518HP:0000518Cataract0ERCC1 CL E G H20671466ORPHA18993433126380
HP:0000518HP:0000518Cataract0ERCC2 CL E G H20681466ORPHA11083193434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11083193434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM11083193434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11083193434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0000518HP:0000518Cataract0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201713435133510
HP:0000518HP:0000518Cataract0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201713435133510
HP:0000518HP:0000518Cataract0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1724503436133520
HP:0000518HP:0000518Cataract0ERCC5 CL E G H20731466ORPHA1593363437133530
HP:0000518HP:0000518Cataract0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1593363437133530
HP:0000518HP:0000518Cataract0ERCC6 CL E G H20741466ORPHA11408153438609413
HP:0000518HP:0000518Cataract0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11408153438609413
HP:0000518HP:0000518Cataract0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11408153438609413
HP:0000518HP:0000518Cataract0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1703093439609412
HP:0000518HP:0000518Cataract0ESCO2 CL E G H1575703103ORPHA13134227230609353
HP:0000518HP:0000518Cataract0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13134227230609353
HP:0000518HP:0000518Cataract0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338204721555612424
HP:0000518HP:0000518Cataract0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12036225808613596
HP:0000518HP:0000518Cataract0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM146226222616107
HP:0000518HP:0000518Cataract0FAS CL E G H3553437ORPHA114222611920134637
HP:0000518HP:0000518Cataract0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272149063603134797
HP:0000518HP:0000518Cataract0FGF5 CL E G H2250190330Trichomegaly190330C0854699OMIM15273683165190
HP:0000518HP:0000518Cataract0FIG4 CL E G H98963472MeningococcemiaORPHA17155316873609390
HP:0000518HP:0000518Cataract0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17155316873609390
HP:0000518HP:0000518Cataract0FKRP CL E G H79147588ORPHA114156517997606596
HP:0000518HP:0000518Cataract0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114156517997606596
HP:0000518HP:0000518Cataract0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114156517997606596
HP:0000518HP:0000518Cataract0FKTN CL E G H2218588ORPHA1595893622607440
HP:0000518HP:0000518Cataract0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1595893622607440
HP:0000518HP:0000518Cataract0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1595893622607440
HP:0000518HP:0000518Cataract0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11227483755603381
HP:0000518HP:0000518Cataract0FOXC1 CL E G H2296250923ORPHA11392473800601090
HP:0000518HP:0000518Cataract0FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0000518HP:0000518Cataract0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM1311463808601094
HP:0000518HP:0000518Cataract0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1152753960607643
HP:0000518HP:0000518Cataract0FTL CL E G H2512163Schizophrenia mental retardation deafness retinitisORPHA1641033999134790
HP:0000518HP:0000518Cataract0FYCO1 CL E G H79443610019Cataract, autosomal recessive congenital 2610019C1864908OMIM12032214673607182
HP:0000518HP:0000518Cataract0GALK1 CL E G H258479237ORPHA1473514118604313
HP:0000518HP:0000518Cataract0GALK1 CL E G H2584230200Deficiency of galactokinase230200C0268155OMIM1473514118604313
HP:0000518HP:0000518Cataract0GALT CL E G H259279239ORPHA13376494135606999
HP:0000518HP:0000518Cataract0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13376494135606999
HP:0000518HP:0000518Cataract0GBA2 CL E G H57704320391ORPHA12324118986609471
HP:0000518HP:0000518Cataract0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM12324118986609471
HP:0000518HP:0000518Cataract0GCM2 CL E G H9247146200Hypoparathyroidism familial isolated146200C1832648OMIM1211414198603716
HP:0000518HP:0000518Cataract0GDF6 CL E G H39225565ORPHA1212114221601147
HP:0000518HP:0000518Cataract0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM1514215717606969
HP:0000518HP:0000518Cataract0GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM161074236600924
HP:0000518HP:0000518Cataract0GJA1 CL E G H26972710Hm syndromeORPHA11091624274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091624274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091624274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11091624274121014
HP:0000518HP:0000518Cataract0GJA8 CL E G H27031377ORPHA1633694281600897
HP:0000518HP:0000518Cataract0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA1401314285603324
HP:0000518HP:0000518Cataract0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA121524286605425
HP:0000518HP:0000518Cataract0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA1342004288604418
HP:0000518HP:0000518Cataract0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1342004288604418
HP:0000518HP:0000518Cataract0GLA CL E G H2717324Slti Salem syndromeORPHA19668654296300644
HP:0000518HP:0000518Cataract0GMPPB CL E G H29925588ORPHA14919722932615320
HP:0000518HP:0000518Cataract0GNAS CL E G H277894089ORPHA12793134392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H277879444ORPHA12793134392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H277879443ORPHA12793134392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12793134392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM12793134392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM12793134392139320
HP:0000518HP:0000518Cataract0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161884416602744
HP:0000518HP:0000518Cataract0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM164421157608780
HP:0000518HP:0000518Cataract0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171324679602275
HP:0000518HP:0000518Cataract0GUCY2D CL E G H300065ORPHA12435884689600179
HP:0000518HP:0000518Cataract0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12435884689600179
HP:0000518HP:0000518Cataract0HARS CL E G H3035231183ORPHA1134816142810
HP:0000518HP:0000518Cataract0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142134837300056
HP:0000518HP:0000518Cataract0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17259026527610453
HP:0000518HP:0000518Cataract0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0000518HP:0000518Cataract0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141945017142992
HP:0000518HP:0000518Cataract0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM121575037607137
HP:0000518HP:0000518Cataract0HSPG2 CL E G H3339800ORPHA16712925273142461
HP:0000518HP:0000518Cataract0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0000518HP:0000518Cataract0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1149414348606441
HP:0000518HP:0000518Cataract0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1917029685612801
HP:0000518HP:0000518Cataract0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141595385604526
HP:0000518HP:0000518Cataract0IFT140 CL E G H974265ORPHA17283729077614620
HP:0000518HP:0000518Cataract0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17283729077614620
HP:0000518HP:0000518Cataract0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12757130391607386
HP:0000518HP:0000518Cataract0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166020606600595
HP:0000518HP:0000518Cataract0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11513205961300248
HP:0000518HP:0000518Cataract0IMPDH1 CL E G H361465ORPHA1242826052146690
HP:0000518HP:0000518Cataract0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242826052146690
HP:0000518HP:0000518Cataract0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14249318362607056
HP:0000518HP:0000518Cataract0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM15446121474613037
HP:0000518HP:0000518Cataract0INPP5K CL E G H51763559ORPHA11014133882607875
HP:0000518HP:0000518Cataract0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11014133882607875
HP:0000518HP:0000518Cataract0IQCB1 CL E G H965765ORPHA14327428949609237
HP:0000518HP:0000518Cataract0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM153637276614631
HP:0000518HP:0000518Cataract0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16208876188601920
HP:0000518HP:0000518Cataract0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM1416115532606871
HP:0000518HP:0000518Cataract0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM1131656250603305
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H376965ORPHA1101466259603208
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101466259603208
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H3769193230Snowflake vitreoretinal degeneration193230C1860405OMIM1101466259603208
HP:0000518HP:0000518Cataract0KCTD1 CL E G H2842522036ORPHA1116218249613420
HP:0000518HP:0000518Cataract0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA110934021136440
HP:0000518HP:0000518Cataract0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM11619826953611565
HP:0000518HP:0000518Cataract0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1960922219613344
HP:0000518HP:0000518Cataract0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1703986388148760
HP:0000518HP:0000518Cataract0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1418215865615757
HP:0000518HP:0000518Cataract0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11417415646611119
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215588ORPHA1285136511603590
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM1285136511603590
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1285136511603590
HP:0000518HP:0000518Cataract0LCA5 CL E G H16769165ORPHA14937231923611408
HP:0000518HP:0000518Cataract0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953686654602575
HP:0000518HP:0000518Cataract0LONP1 CL E G H93611458ORPHA1192089479605490
HP:0000518HP:0000518Cataract0LRAT CL E G H922765ORPHA1241826685604863
HP:0000518HP:0000518Cataract0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241826685604863
HP:0000518HP:0000518Cataract0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM12218456697603506
HP:0000518HP:0000518Cataract0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM19546758604357
HP:0000518HP:0000518Cataract0MAF CL E G H40941377ORPHA1222416776177075
HP:0000518HP:0000518Cataract0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242416816154235
HP:0000518HP:0000518Cataract0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1539128845610197
HP:0000518HP:0000518Cataract0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894617027604705
HP:0000518HP:0000518Cataract0MIP CL E G H4284615274Cataract 15, multiple types615274C3809001OMIM128857103154050
HP:0000518HP:0000518Cataract0MKS1 CL E G H54903564ORPHA1524737121609883
HP:0000518HP:0000518Cataract0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000518HP:0000518Cataract0MVK CL E G H459829ORPHA11833707530251170
HP:0000518HP:0000518Cataract0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11833707530251170
HP:0000518HP:0000518Cataract0MYO7A CL E G H4647231178ORPHA152721647606276903
HP:0000518HP:0000518Cataract0MYO7A CL E G H4647231169ORPHA152721647606276903
HP:0000518HP:0000518Cataract0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM135820967610672
HP:0000518HP:0000518Cataract0NAGA CL E G H466879281ORPHA1111567631104170
HP:0000518HP:0000518Cataract0NDP CL E G H4693649ORPHA11672437678300658
HP:0000518HP:0000518Cataract0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672437678300658
HP:0000518HP:0000518Cataract0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1617720372300403
HP:0000518HP:0000518Cataract0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11397745604043
HP:0000518HP:0000518Cataract0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641107758608272
HP:0000518HP:0000518Cataract0NF2 CL E G H4771637ORPHA143710107773607379
HP:0000518HP:0000518Cataract0NHS CL E G H4810627ORPHA1523947820300457
HP:0000518HP:0000518Cataract0NMNAT1 CL E G H6480265ORPHA17614417877608700
HP:0000518HP:0000518Cataract0NOD2 CL E G H6412790340ORPHA11215575331605956
HP:0000518HP:0000518Cataract0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM11215575331605956
HP:0000518HP:0000518Cataract0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112418617881190198
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1803627974604485
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002268100Enhanced s-cone syndrome268100C1849394OMIM1803627974604485
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002611131Retinitis pigmentosa 37611131C1970163OMIM1803627974604485
HP:0000518HP:0000518Cataract0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251648002162080
HP:0000518HP:0000518Cataract0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12644188108300535
HP:0000518HP:0000518Cataract0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11626332567300170
HP:0000518HP:0000518Cataract0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM1781328522600037
HP:0000518HP:0000518Cataract0P3H2 CL E G H55214614292Myopia, high, with cataract and vitreoretinal degeneration614292C3280346OMIM1835919317610341
HP:0000518HP:0000518Cataract0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM198011428582612349
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080893ORPHA15715708620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H50802253ORPHA15715708620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080250923ORPHA15715708620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15715708620607108
HP:0000518HP:0000518Cataract0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15360334383613425
HP:0000518HP:0000518Cataract0PCDH15 CL E G H65217231169ORPHA1122169214674605514
HP:0000518HP:0000518Cataract0PCYT1A CL E G H513065ORPHA1202068754123695
HP:0000518HP:0000518Cataract0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1514938785180071
HP:0000518HP:0000518Cataract0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11336938786180072
HP:0000518HP:0000518Cataract0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12708789180073
HP:0000518HP:0000518Cataract0PDZD7 CL E G H79955231178ORPHA11942026257612971
HP:0000518HP:0000518Cataract0PEX1 CL E G H5189912ORPHA11407828850602136
HP:0000518HP:0000518Cataract0PEX1 CL E G H518944MYBPC1-related conditionORPHA11407828850602136
HP:0000518HP:0000518Cataract0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11407828850602136
HP:0000518HP:0000518Cataract0PEX10 CL E G H5192912ORPHA1324758851602859
HP:0000518HP:0000518Cataract0PEX10 CL E G H519244MYBPC1-related conditionORPHA1324758851602859
HP:0000518HP:0000518Cataract0PEX11B CL E G H8799912ORPHA182818853603867
HP:0000518HP:0000518Cataract0PEX11B CL E G H879944MYBPC1-related conditionORPHA182818853603867
HP:0000518HP:0000518Cataract0PEX12 CL E G H5193912ORPHA1372408854601758
HP:0000518HP:0000518Cataract0PEX12 CL E G H519344MYBPC1-related conditionORPHA1372408854601758
HP:0000518HP:0000518Cataract0PEX13 CL E G H5194912ORPHA1102328855601789
HP:0000518HP:0000518Cataract0PEX13 CL E G H519444MYBPC1-related conditionORPHA1102328855601789
HP:0000518HP:0000518Cataract0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1102328855601789
HP:0000518HP:0000518Cataract0PEX14 CL E G H5195912ORPHA152348856601791
HP:0000518HP:0000518Cataract0PEX14 CL E G H519544MYBPC1-related conditionORPHA152348856601791
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409912ORPHA1152038857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H940944MYBPC1-related conditionORPHA1152038857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409614876Peroxisome biogenesis disorder 8A614876C3553959OMIM1152038857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1152038857603360
HP:0000518HP:0000518Cataract0PEX19 CL E G H5824912ORPHA141799713600279
HP:0000518HP:0000518Cataract0PEX19 CL E G H582444MYBPC1-related conditionORPHA141799713600279
HP:0000518HP:0000518Cataract0PEX2 CL E G H5828912ORPHA1182519717170993
HP:0000518HP:0000518Cataract0PEX2 CL E G H582844MYBPC1-related conditionORPHA1182519717170993
HP:0000518HP:0000518Cataract0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182519717170993
HP:0000518HP:0000518Cataract0PEX26 CL E G H55670912ORPHA12731322965608666
HP:0000518HP:0000518Cataract0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12731322965608666
HP:0000518HP:0000518Cataract0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12731322965608666
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504912ORPHA1101558858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H850444MYBPC1-related conditionORPHA1101558858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM1101558858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM1101558858603164
HP:0000518HP:0000518Cataract0PEX5 CL E G H5830912ORPHA1144039719600414
HP:0000518HP:0000518Cataract0PEX5 CL E G H583044MYBPC1-related conditionORPHA1144039719600414
HP:0000518HP:0000518Cataract0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1144039719600414
HP:0000518HP:0000518Cataract0PEX6 CL E G H5190912ORPHA11096398859601498
HP:0000518HP:0000518Cataract0PEX6 CL E G H519044MYBPC1-related conditionORPHA11096398859601498
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191773ORPHA1533108860601757
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM1533108860601757
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM1533108860601757
HP:0000518HP:0000518Cataract0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1232778923606879
HP:0000518HP:0000518Cataract0PHYH CL E G H5264773ORPHA1372018940602026
HP:0000518HP:0000518Cataract0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM1372018940602026
HP:0000518HP:0000518Cataract0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM1575318975171834
HP:0000518HP:0000518Cataract0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1292588979171833
HP:0000518HP:0000518Cataract0PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM115379006602669
HP:0000518HP:0000518Cataract0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM1621511397605031
HP:0000518HP:0000518Cataract0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM131199083603066
HP:0000518HP:0000518Cataract0PMPCA CL E G H232031170ORPHA1812718667613036
HP:0000518HP:0000518Cataract0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11623523166610316
HP:0000518HP:0000518Cataract0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130014389179174763
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624588ORPHA18965219139606822
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18965219139606822
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18965219139606822
HP:0000518HP:0000518Cataract0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1818726267615247
HP:0000518HP:0000518Cataract0POMT1 CL E G H10585588ORPHA1965999202607423
HP:0000518HP:0000518Cataract0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965999202607423
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954588ORPHA17559919743607439
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17559919743607439
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17559919743607439
HP:0000518HP:0000518Cataract0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222529330300463
HP:0000518HP:0000518Cataract0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1710032528610598
HP:0000518HP:0000518Cataract0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1835039454604365
HP:0000518HP:0000518Cataract0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1716417348607301
HP:0000518HP:0000518Cataract0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117529115446606419
HP:0000518HP:0000518Cataract0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1412617349607795
HP:0000518HP:0000518Cataract0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11127215860613979
HP:0000518HP:0000518Cataract0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15358217340607300
HP:0000518HP:0000518Cataract0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11815259942179605
HP:0000518HP:0000518Cataract0PTCH1 CL E G H572777301ORPHA152926089585601309
HP:0000518HP:0000518Cataract0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152926089585601309
HP:0000518HP:0000518Cataract0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1114109586603673
HP:0000518HP:0000518Cataract0PTEN CL E G H57282969ORPHA165822249588601728
HP:0000518HP:0000518Cataract0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM165822249588601728
HP:0000518HP:0000518Cataract0PTH CL E G H5741146200Hypoparathyroidism familial isolated146200C1832648OMIM18419606168450
HP:0000518HP:0000518Cataract0PTH1R CL E G H574550945ORPHA1451349608168468
HP:0000518HP:0000518Cataract0PTPN22 CL E G H261913437ORPHA114319652600716
HP:0000518HP:0000518Cataract0RAB18 CL E G H229312510ORPHA1516914244602207
HP:0000518HP:0000518Cataract0RAB3GAP1 CL E G H229302510ORPHA16726517063602536
HP:0000518HP:0000518Cataract0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA16726517063602536
HP:0000518HP:0000518Cataract0RAB3GAP2 CL E G H257822510ORPHA11639217168609275
HP:0000518HP:0000518Cataract0RAB3GAP2 CL E G H25782401830ORPHA11639217168609275
HP:0000518HP:0000518Cataract0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA11639217168609275
HP:0000518HP:0000518Cataract0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11639217168609275
HP:0000518HP:0000518Cataract0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111316369884614041
HP:0000518HP:0000518Cataract0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1185839921180290
HP:0000518HP:0000518Cataract0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA1101045724147183
HP:0000518HP:0000518Cataract0RD3 CL E G H34303565ORPHA11319219689180040
HP:0000518HP:0000518Cataract0RDH12 CL E G H14522665ORPHA110929519977608830
HP:0000518HP:0000518Cataract0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110929519977608830
HP:0000518HP:0000518Cataract0RECQL4 CL E G H9401221016ORPHA112227339949603780
HP:0000518HP:0000518Cataract0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1814030078609346
HP:0000518HP:0000518Cataract0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111579990600342
HP:0000518HP:0000518Cataract0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121936610012180380
HP:0000518HP:0000518Cataract0RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121936610012180380
HP:0000518HP:0000518Cataract0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13720010024180090
HP:0000518HP:0000518Cataract0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11816710254180721
HP:0000518HP:0000518Cataract0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119068410263603937
HP:0000518HP:0000518Cataract0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112134610274300757
HP:0000518HP:0000518Cataract0RP2 CL E G H6102312600Retinitis pigmentosa 2312600C2681923OMIM112134610274300757
HP:0000518HP:0000518Cataract0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145110288607331
HP:0000518HP:0000518Cataract0RPE65 CL E G H612165ORPHA120849610294180069
HP:0000518HP:0000518Cataract0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120849610294180069
HP:0000518HP:0000518Cataract0RPE65 CL E G H6121204100Leber congenital amaurosis 2204100C1859844OMIM120849610294180069
HP:0000518HP:0000518Cataract0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124579810295312610
HP:0000518HP:0000518Cataract0RPGRIP1 CL E G H57096564ORPHA114956513436605446
HP:0000518HP:0000518Cataract0RPGRIP1 CL E G H5709665ORPHA114956513436605446
HP:0000518HP:0000518Cataract0RPGRIP1 CL E G H57096613826Leber congenital amaurosis 6613826C1854260OMIM114956513436605446
HP:0000518HP:0000518Cataract0RPGRIP1L CL E G H23322564ORPHA15177929168610937
HP:0000518HP:0000518Cataract0RS1 CL E G H6247792ORPHA127954810457300839
HP:0000518HP:0000518Cataract0RSPO2 CL E G H3404193301Lowry syndromeORPHA124828583610575
HP:0000518HP:0000518Cataract0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11623010521181031
HP:0000518HP:0000518Cataract0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15717115924607343
HP:0000518HP:0000518Cataract0SC5D CL E G H630946059ORPHA1618810547602286
HP:0000518HP:0000518Cataract0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187413081611611
HP:0000518HP:0000518Cataract0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11723810729607292
HP:0000518HP:0000518Cataract0SIL1 CL E G H64374559ORPHA14920224624608005
HP:0000518HP:0000518Cataract0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM1116210892606326
HP:0000518HP:0000518Cataract0SLC16A12 CL E G H387700612018Cataract, juvenile, with microcornea and glucosuria612018C2677587OMIM1183623094611910
HP:0000518HP:0000518Cataract0SLC25A4 CL E G H2911369ORPHA11724710990103220
HP:0000518HP:0000518Cataract0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM128164411005138140
HP:0000518HP:0000518Cataract0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM179495603690
HP:0000518HP:0000518Cataract0SLC40A1 CL E G H30061606069Hemochromatosis type 4606069C1853733OMIM16718110909604653
HP:0000518HP:0000518Cataract0SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12222311030603345
HP:0000518HP:0000518Cataract0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1821629326615720
HP:0000518HP:0000518Cataract0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA112569729090614982
HP:0000518HP:0000518Cataract0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13549130859601664
HP:0000518HP:0000518Cataract0SPATA7 CL E G H5581265ORPHA13922920423609868
HP:0000518HP:0000518Cataract0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13922920423609868
HP:0000518HP:0000518Cataract0SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM11616925812611715
HP:0000518HP:0000518Cataract0STX16 CL E G H867594089ORPHA1618211431603666
HP:0000518HP:0000518Cataract0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14769716466607035
HP:0000518HP:0000518Cataract0SUMF1 CL E G H285362585ORPHA15538220376607939
HP:0000518HP:0000518Cataract0TBC1D20 CL E G H1286372510ORPHA1713516133611663
HP:0000518HP:0000518Cataract0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM15665929203613577
HP:0000518HP:0000518Cataract0TBR1 CL E G H107161617ORPHA1188811590604616
HP:0000518HP:0000518Cataract0TCTN2 CL E G H79867564ORPHA11526825774613846
HP:0000518HP:0000518Cataract0TDRD7 CL E G H23424613887Cataract, autosomal recessive congenital 4613887C3151304OMIM1516030831611258
HP:0000518HP:0000518Cataract0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM14412311742107580
HP:0000518HP:0000518Cataract0TGFBI CL E G H7045121900Groenouw corneal dystrophy type I121900C1641846OMIM17012311771601692
HP:0000518HP:0000518Cataract0TMEM107 CL E G H84314564ORPHA1310028128616183
HP:0000518HP:0000518Cataract0TMEM216 CL E G H51259564ORPHA1815125018613277
HP:0000518HP:0000518Cataract0TMEM231 CL E G H79583564ORPHA11920237234614949
HP:0000518HP:0000518Cataract0TMEM67 CL E G H91147564ORPHA117439328396609884
HP:0000518HP:0000518Cataract0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12230821653609507
HP:0000518HP:0000518Cataract0TRAPPC11 CL E G H60684369847ORPHA11755925751614138
HP:0000518HP:0000518Cataract0TRAPPC11 CL E G H60684369840ORPHA11755925751614138
HP:0000518HP:0000518Cataract0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11755925751614138
HP:0000518HP:0000518Cataract0TRIM44 CL E G H54765250923ORPHA112719016612298
HP:0000518HP:0000518Cataract0TRIM44 CL E G H54765617142Aniridia 3617142C4310695OMIM112719016612298
HP:0000518HP:0000518Cataract0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1221312307604507
HP:0000518HP:0000518Cataract0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11620220087608132
HP:0000518HP:0000518Cataract0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1320012406601197
HP:0000518HP:0000518Cataract0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1790218127610053
HP:0000518HP:0000518Cataract0TULP1 CL E G H728765ORPHA17531012423602280
HP:0000518HP:0000518Cataract0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17531012423602280
HP:0000518HP:0000518Cataract0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM1185723230610552
HP:0000518HP:0000518Cataract0USH1C CL E G H10083231169ORPHA15172612597605242
HP:0000518HP:0000518Cataract0USH1G CL E G H124590231169ORPHA13224216356607696
HP:0000518HP:0000518Cataract0USH2A CL E G H7399231178ORPHA11234402412601608400
HP:0000518HP:0000518Cataract0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234402412601608400
HP:0000518HP:0000518Cataract0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12844012632300072
HP:0000518HP:0000518Cataract0VAC14 CL E G H556973472MeningococcemiaORPHA1711825507604632
HP:0000518HP:0000518Cataract0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1247782464118661
HP:0000518HP:0000518Cataract0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM12845112698192977
HP:0000518HP:0000518Cataract0VSX2 CL E G H338917610092Microphthalmia, isolated, with coloboma 3610092C1864721OMIM1132891975142993
HP:0000518HP:0000518Cataract0WDPCP CL E G H51057564ORPHA1827328027613580
HP:0000518HP:0000518Cataract0WDR19 CL E G H57728614376Asphyxiating thoracic dystrophy 5614376C3280598OMIM14547518340608151
HP:0000518HP:0000518Cataract0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM11212525928616144
HP:0000518HP:0000518Cataract0WHRN CL E G H25861231178ORPHA13249616361607928
HP:0000518HP:0000518Cataract0WNT3 CL E G H74733301Lowry syndromeORPHA122912782165330
HP:0000518HP:0000518Cataract0WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM122912782165330
HP:0000518HP:0000518Cataract0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1115194312791604611
HP:0000518HP:0000518Cataract0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1115194312791604611
HP:0000518HP:0000518Cataract0WT1 CL E G H7490893ORPHA118486912796607102
HP:0000518HP:0000518Cataract0WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118486912796607102
HP:0000518HP:0000518Cataract0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15121412814611153
HP:0000518HP:0000518Cataract0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110050512816613208
HP:0000518HP:0000518Cataract0XYLT2 CL E G H6413285194ORPHA1138315517608125
HP:0000518HP:0000518Cataract0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1138315517608125
HP:0000518HP:0000518Cataract0ZBTB20 CL E G H261373042ORPHA12512613503606025
HP:0000518HP:0000518Cataract0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM11418715807610827
HP:0000518HP:0000518Cataract0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421820041616454
HP:0000518HP:0000518Cataract0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1318826498613598
HP:0000518HP:0000518Cataract1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280211234601691
HP:0000518HP:0000518Cataract1ACTB CL E G H6079107ORPHA165306132102630
HP:0000518HP:0000518Cataract1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165306132102630
HP:0000518HP:0000518Cataract1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM11523913201608990
HP:0000518HP:0000518Cataract1ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM12722719706610113
HP:0000518HP:0000518Cataract1ADGRV1 CL E G H84059231178ORPHA1249240517416602851
HP:0000518HP:0000518Cataract1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138327318613228
HP:0000518HP:0000518Cataract1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1926526147615900
HP:0000518HP:0000518Cataract1AGK CL E G H557501369ORPHA12721921869610345
HP:0000518HP:0000518Cataract1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19663421575608894
HP:0000518HP:0000518Cataract1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14204348600253
HP:0000518HP:0000518Cataract1AIPL1 CL E G H2374665ORPHA179312359604392
HP:0000518HP:0000518Cataract1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1141638360607358
HP:0000518HP:0000518Cataract1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112379391164730
HP:0000518HP:0000518Cataract1ALDH18A1 CL E G H583235664ORPHA1333309722138250
HP:0000518HP:0000518Cataract1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1333309722138250
HP:0000518HP:0000518Cataract1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1333309722138250
HP:0000518HP:0000518Cataract1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161337179603178
HP:0000518HP:0000518Cataract1ALG2 CL E G H8536579326ORPHA1519123159607905
HP:0000518HP:0000518Cataract1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1519123159607905
HP:0000518HP:0000518Cataract1ALG8 CL E G H7905379325ORPHA11718823161608103
HP:0000518HP:0000518Cataract1ALMS1 CL E G H784064ORPHA13162446428606844
HP:0000518HP:0000518Cataract1ALX1 CL E G H8092306542ORPHA15311494601527
HP:0000518HP:0000518Cataract1ALX3 CL E G H257391474ORPHA1842449606014
HP:0000518HP:0000518Cataract1ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1842449606014
HP:0000518HP:0000518Cataract1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1716429216610911
HP:0000518HP:0000518Cataract1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1737617090616432
HP:0000518HP:0000518Cataract1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA155117146615407
HP:0000518HP:0000518Cataract1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1363694604695
HP:0000518HP:0000518Cataract1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM1363694604695
HP:0000518HP:0000518Cataract1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12110913210608845
HP:0000518HP:0000518Cataract1ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM146719300180
HP:0000518HP:0000518Cataract1ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000518HP:0000518Cataract1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM197513907609875
HP:0000518HP:0000518Cataract1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1975851607027
HP:0000518HP:0000518Cataract1B3GALNT2 CL E G H148789588ORPHA11633628596610194
HP:0000518HP:0000518Cataract1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11633628596610194
HP:0000518HP:0000518Cataract1B3GLCT CL E G H145173709ORPHA11522420207610308
HP:0000518HP:0000518Cataract1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11522420207610308
HP:0000518HP:0000518Cataract1B9D1 CL E G H27077564ORPHA11019524123614144
HP:0000518HP:0000518Cataract1B9D2 CL E G H80776564ORPHA145028636611951
HP:0000518HP:0000518Cataract1BBIP1 CL E G H92482615995Bardet-Biedl syndrome 18615995C3806174OMIM115928093613605
HP:0000518HP:0000518Cataract1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105489966209901
HP:0000518HP:0000518Cataract1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196478967606151
HP:0000518HP:0000518Cataract1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA15548220893300485
HP:0000518HP:0000518Cataract1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1372461020603647
HP:0000518HP:0000518Cataract1BDNF CL E G H627893ORPHA135561033113505
HP:0000518HP:0000518Cataract1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131949212703607854
HP:0000518HP:0000518Cataract1BMP4 CL E G H652139471ORPHA1481061071112262
HP:0000518HP:0000518Cataract1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120861148602452
HP:0000518HP:0000518Cataract1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1294991149602860
HP:0000518HP:0000518Cataract1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1294991149602860
HP:0000518HP:0000518Cataract1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16511151603719
HP:0000518HP:0000518Cataract1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11727232614477
HP:0000518HP:0000518Cataract1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM11727232614477
HP:0000518HP:0000518Cataract1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1101411375114760
HP:0000518HP:0000518Cataract1CASK CL E G H8573163937ORPHA11195591497300172
HP:0000518HP:0000518Cataract1CC2D2A CL E G H57545564ORPHA19686529253612013
HP:0000518HP:0000518Cataract1CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM19686529253612013
HP:0000518HP:0000518Cataract1CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0000518HP:0000518Cataract1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14949514550609502
HP:0000518HP:0000518Cataract1CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM182971857600236
HP:0000518HP:0000518Cataract1CEP290 CL E G H80184564ORPHA1310151729021610142
HP:0000518HP:0000518Cataract1CEP290 CL E G H8018465ORPHA1310151729021610142
HP:0000518HP:0000518Cataract1CEP55 CL E G H55165564ORPHA12401161610000
HP:0000518HP:0000518Cataract1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1521230794607951
HP:0000518HP:0000518Cataract1CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000518HP:0000518Cataract1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13942321699608381
HP:0000518HP:0000518Cataract1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12119529861300350
HP:0000518HP:0000518Cataract1CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0000518HP:0000518Cataract1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1736722074607042
HP:0000518HP:0000518Cataract1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12533430664616254
HP:0000518HP:0000518Cataract1CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000518HP:0000518Cataract1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13923912605606397
HP:0000518HP:0000518Cataract1CNBP CL E G H7555606ORPHA111513164116955
HP:0000518HP:0000518Cataract1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1332432148123825
HP:0000518HP:0000518Cataract1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1626392151600724
HP:0000518HP:0000518Cataract1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM11265892153605080
HP:0000518HP:0000518Cataract1COG4 CL E G H2583985172ORPHA1620918620606976
HP:0000518HP:0000518Cataract1COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM1620918620606976
HP:0000518HP:0000518Cataract1COL11A1 CL E G H1301250984ORPHA11069382186120280
HP:0000518HP:0000518Cataract1COL11A1 CL E G H1301560ORPHA11069382186120280
HP:0000518HP:0000518Cataract1COL11A1 CL E G H130190654ORPHA11069382186120280
HP:0000518HP:0000518Cataract1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11069382186120280
HP:0000518HP:0000518Cataract1COL2A1 CL E G H1280166011ORPHA157011422200120140
HP:0000518HP:0000518Cataract1COL2A1 CL E G H128090653ORPHA157011422200120140
HP:0000518HP:0000518Cataract1COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM157011422200120140
HP:0000518HP:0000518Cataract1COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM157011422200120140
HP:0000518HP:0000518Cataract1COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM127211732204120070
HP:0000518HP:0000518Cataract1COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM123313472206120131
HP:0000518HP:0000518Cataract1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM182816442214120120
HP:0000518HP:0000518Cataract1COL9A1 CL E G H1297250984ORPHA165632217120210
HP:0000518HP:0000518Cataract1COL9A2 CL E G H1298250984ORPHA1133152218120260
HP:0000518HP:0000518Cataract1COL9A3 CL E G H1299250984ORPHA1174322219120270
HP:0000518HP:0000518Cataract1COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151682291300885
HP:0000518HP:0000518Cataract1CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM1615723228608841
HP:0000518HP:0000518Cataract1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11135012330600650
HP:0000518HP:0000518Cataract1CRB1 CL E G H2341865ORPHA13478902343604210
HP:0000518HP:0000518Cataract1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13478902343604210
HP:0000518HP:0000518Cataract1CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13478902343604210
HP:0000518HP:0000518Cataract1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13649482348600140
HP:0000518HP:0000518Cataract1CRX CL E G H140665ORPHA11073602383602225
HP:0000518HP:0000518Cataract1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11073602383602225
HP:0000518HP:0000518Cataract1CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11073602383602225
HP:0000518HP:0000518Cataract1CRYAA CL E G H14091377ORPHA1271402388123580
HP:0000518HP:0000518Cataract1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM1301712389123590
HP:0000518HP:0000518Cataract1CRYBA4 CL E G H14131377ORPHA1101102396123631
HP:0000518HP:0000518Cataract1CRYBB1 CL E G H14141377ORPHA120792397600929
HP:0000518HP:0000518Cataract1CRYBB2 CL E G H14151377ORPHA127962398123620
HP:0000518HP:0000518Cataract1CRYGC CL E G H14201377ORPHA128662410123680
HP:0000518HP:0000518Cataract1CRYGD CL E G H14211377ORPHA127852411123690
HP:0000518HP:0000518Cataract1CRYGS CL E G H1427116100Membranous cataract116100C0524524OMIM19632417123730
HP:0000518HP:0000518Cataract1CSPP1 CL E G H79848564ORPHA12745726193611654
HP:0000518HP:0000518Cataract1CTDP1 CL E G H915048431ORPHA113222498604927
HP:0000518HP:0000518Cataract1CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0000518HP:0000518Cataract1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11164392605606530
HP:0000518HP:0000518Cataract1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113732666128239
HP:0000518HP:0000518Cataract1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117942718600811
HP:0000518HP:0000518Cataract1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12185052860602858
HP:0000518HP:0000518Cataract1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1819920603608172
HP:0000518HP:0000518Cataract1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1232817211605584
HP:0000518HP:0000518Cataract1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753942890300126
HP:0000518HP:0000518Cataract1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119682910605185
HP:0000518HP:0000518Cataract1DMPK CL E G H1760273ORPHA182352933605377
HP:0000518HP:0000518Cataract1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182352933605377
HP:0000518HP:0000518Cataract1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12234519189614194
HP:0000518HP:0000518Cataract1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421972995191350
HP:0000518HP:0000518Cataract1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912603133300205
HP:0000518HP:0000518Cataract1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912603133300205
HP:0000518HP:0000518Cataract1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19783188605984
HP:0000518HP:0000518Cataract1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA1912128526614789
HP:0000518HP:0000518Cataract1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11076283373602700
HP:0000518HP:0000518Cataract1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA16879029331615068
HP:0000518HP:0000518Cataract1ERCC1 CL E G H20671466ORPHA18993433126380
HP:0000518HP:0000518Cataract1ERCC2 CL E G H20681466ORPHA11083193434126340
HP:0000518HP:0000518Cataract1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11083193434126340
HP:0000518HP:0000518Cataract1ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM11083193434126340
HP:0000518HP:0000518Cataract1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11083193434126340
HP:0000518HP:0000518Cataract1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0000518HP:0000518Cataract1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201713435133510
HP:0000518HP:0000518Cataract1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201713435133510
HP:0000518HP:0000518Cataract1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1724503436133520
HP:0000518HP:0000518Cataract1ERCC5 CL E G H20731466ORPHA1593363437133530
HP:0000518HP:0000518Cataract1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1593363437133530
HP:0000518HP:0000518Cataract1ERCC6 CL E G H20741466ORPHA11408153438609413
HP:0000518HP:0000518Cataract1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11408153438609413
HP:0000518HP:0000518Cataract1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11408153438609413
HP:0000518HP:0000518Cataract1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1703093439609412
HP:0000518HP:0000518Cataract1ESCO2 CL E G H1575703103ORPHA13134227230609353
HP:0000518HP:0000518Cataract1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13134227230609353
HP:0000518HP:0000518Cataract1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338204721555612424
HP:0000518HP:0000518Cataract1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12036225808613596
HP:0000518HP:0000518Cataract1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM146226222616107
HP:0000518HP:0000518Cataract1FAS CL E G H3553437ORPHA114222611920134637
HP:0000518HP:0000518Cataract1FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272149063603134797
HP:0000518HP:0000518Cataract1FGF5 CL E G H2250190330Trichomegaly190330C0854699OMIM15273683165190
HP:0000518HP:0000518Cataract1FIG4 CL E G H98963472MeningococcemiaORPHA17155316873609390
HP:0000518HP:0000518Cataract1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17155316873609390
HP:0000518HP:0000518Cataract1FKRP CL E G H79147588ORPHA114156517997606596
HP:0000518HP:0000518Cataract1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114156517997606596
HP:0000518HP:0000518Cataract1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114156517997606596
HP:0000518HP:0000518Cataract1FKTN CL E G H2218588ORPHA1595893622607440
HP:0000518HP:0000518Cataract1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1595893622607440
HP:0000518HP:0000518Cataract1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1595893622607440
HP:0000518HP:0000518Cataract1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11227483755603381
HP:0000518HP:0000518Cataract1FOXC1 CL E G H2296250923ORPHA11392473800601090
HP:0000518HP:0000518Cataract1FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0000518HP:0000518Cataract1FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM1311463808601094
HP:0000518HP:0000518Cataract1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1152753960607643
HP:0000518HP:0000518Cataract1FTL CL E G H2512163Schizophrenia mental retardation deafness retinitisORPHA1641033999134790
HP:0000518HP:0000518Cataract1FYCO1 CL E G H79443610019Cataract, autosomal recessive congenital 2610019C1864908OMIM12032214673607182
HP:0000518HP:0000518Cataract1GALK1 CL E G H258479237ORPHA1473514118604313
HP:0000518HP:0000518Cataract1GALK1 CL E G H2584230200Deficiency of galactokinase230200C0268155OMIM1473514118604313
HP:0000518HP:0000518Cataract1GALT CL E G H259279239ORPHA13376494135606999
HP:0000518HP:0000518Cataract1GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13376494135606999
HP:0000518HP:0000518Cataract1GBA2 CL E G H57704320391ORPHA12324118986609471
HP:0000518HP:0000518Cataract1GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM12324118986609471
HP:0000518HP:0000518Cataract1GCM2 CL E G H9247146200Hypoparathyroidism familial isolated146200C1832648OMIM1211414198603716
HP:0000518HP:0000518Cataract1GDF6 CL E G H39225565ORPHA1212114221601147
HP:0000518HP:0000518Cataract1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM1514215717606969
HP:0000518HP:0000518Cataract1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM161074236600924
HP:0000518HP:0000518Cataract1GJA1 CL E G H26972710Hm syndromeORPHA11091624274121014
HP:0000518HP:0000518Cataract1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091624274121014
HP:0000518HP:0000518Cataract1GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091624274121014
HP:0000518HP:0000518Cataract1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11091624274121014
HP:0000518HP:0000518Cataract1GJA8 CL E G H27031377ORPHA1633694281600897
HP:0000518HP:0000518Cataract1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA1401314285603324
HP:0000518HP:0000518Cataract1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA121524286605425
HP:0000518HP:0000518Cataract1GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA1342004288604418
HP:0000518HP:0000518Cataract1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1342004288604418
HP:0000518HP:0000518Cataract1GLA CL E G H2717324Slti Salem syndromeORPHA19668654296300644
HP:0000518HP:0000518Cataract1GMPPB CL E G H29925588ORPHA14919722932615320
HP:0000518HP:0000518Cataract1GNAS CL E G H277879444ORPHA12793134392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H277879443ORPHA12793134392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H277894089ORPHA12793134392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12793134392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM12793134392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM12793134392139320
HP:0000518HP:0000518Cataract1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161884416602744
HP:0000518HP:0000518Cataract1GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM164421157608780
HP:0000518HP:0000518Cataract1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171324679602275
HP:0000518HP:0000518Cataract1GUCY2D CL E G H300065ORPHA12435884689600179
HP:0000518HP:0000518Cataract1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12435884689600179
HP:0000518HP:0000518Cataract1HARS CL E G H3035231183ORPHA1134816142810
HP:0000518HP:0000518Cataract1HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142134837300056
HP:0000518HP:0000518Cataract1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17259026527610453
HP:0000518HP:0000518Cataract1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0000518HP:0000518Cataract1HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141945017142992
HP:0000518HP:0000518Cataract1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM121575037607137
HP:0000518HP:0000518Cataract1HSPG2 CL E G H3339800ORPHA16712925273142461
HP:0000518HP:0000518Cataract1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0000518HP:0000518Cataract1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1149414348606441
HP:0000518HP:0000518Cataract1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1917029685612801
HP:0000518HP:0000518Cataract1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141595385604526
HP:0000518HP:0000518Cataract1IFT140 CL E G H974265ORPHA17283729077614620
HP:0000518HP:0000518Cataract1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17283729077614620
HP:0000518HP:0000518Cataract1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12757130391607386
HP:0000518HP:0000518Cataract1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166020606600595
HP:0000518HP:0000518Cataract1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11513205961300248
HP:0000518HP:0000518Cataract1IMPDH1 CL E G H361465ORPHA1242826052146690
HP:0000518HP:0000518Cataract1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1242826052146690
HP:0000518HP:0000518Cataract1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14249318362607056
HP:0000518HP:0000518Cataract1INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM15446121474613037
HP:0000518HP:0000518Cataract1INPP5K CL E G H51763559ORPHA11014133882607875
HP:0000518HP:0000518Cataract1INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11014133882607875
HP:0000518HP:0000518Cataract1IQCB1 CL E G H965765ORPHA14327428949609237
HP:0000518HP:0000518Cataract1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM153637276614631
HP:0000518HP:0000518Cataract1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16208876188601920
HP:0000518HP:0000518Cataract1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM1416115532606871
HP:0000518HP:0000518Cataract1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM1131656250603305
HP:0000518HP:0000518Cataract1KCNJ13 CL E G H376965ORPHA1101466259603208
HP:0000518HP:0000518Cataract1KCNJ13 CL E G H3769614186