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 hypoplasiaORPHA11280151134601691
HP:0000518HP:0000518Cataract0ACTB CL E G H6079107ORPHA165224132102630
HP:0000518HP:0000518Cataract0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165224132102630
HP:0000518HP:0000518Cataract0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM11516513201608990
HP:0000518HP:0000518Cataract0ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM12718019706610113
HP:0000518HP:0000518Cataract0ADGRV1 CL E G H84059231178ORPHA1249147917416602851
HP:0000518HP:0000518Cataract0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0000518HP:0000518Cataract0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000518HP:0000518Cataract0AGK CL E G H557501369ORPHA12718621869610345
HP:0000518HP:0000518Cataract0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000518HP:0000518Cataract0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000518HP:0000518Cataract0AIPL1 CL E G H2374665ORPHA179232359604392
HP:0000518HP:0000518Cataract0AIRE CL E G H3263453Meier Rotschild syndromeORPHA1141417360607358
HP:0000518HP:0000518Cataract0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112269391164730
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H583235664ORPHA1332529722138250
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0000518HP:0000518Cataract0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1332529722138250
HP:0000518HP:0000518Cataract0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0000518HP:0000518Cataract0ALG2 CL E G H8536579326ORPHA1515323159607905
HP:0000518HP:0000518Cataract0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0000518HP:0000518Cataract0ALG8 CL E G H7905379325ORPHA1179623161608103
HP:0000518HP:0000518Cataract0ALMS1 CL E G H784064ORPHA13161745428606844
HP:0000518HP:0000518Cataract0ALX1 CL E G H8092306542ORPHA15291494601527
HP:0000518HP:0000518Cataract0ALX3 CL E G H257391474ORPHA1835449606014
HP:0000518HP:0000518Cataract0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000518HP:0000518Cataract0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0000518HP:0000518Cataract0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000518HP:0000518Cataract0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000518HP:0000518Cataract0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000518HP:0000518Cataract0ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM1333694604695
HP:0000518HP:0000518Cataract0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000518HP:0000518Cataract0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM146719300180
HP:0000518HP:0000518Cataract0ARSG CL E G H22901231183ORPHA137324102610008
HP:0000518HP:0000518Cataract0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0000518HP:0000518Cataract0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000518HP:0000518Cataract0B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0000518HP:0000518Cataract0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0000518HP:0000518Cataract0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000518HP:0000518Cataract0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000518HP:0000518Cataract0B9D1 CL E G H27077564ORPHA11015824123614144
HP:0000518HP:0000518Cataract0B9D2 CL E G H80776564ORPHA144028636611951
HP:0000518HP:0000518Cataract0BBIP1 CL E G H92482615995Bardet-Biedl syndrome 18615995C3806174OMIM114328093613605
HP:0000518HP:0000518Cataract0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0000518HP:0000518Cataract0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000518HP:0000518Cataract0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA15541520893300485
HP:0000518HP:0000518Cataract0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371741020603647
HP:0000518HP:0000518Cataract0BDNF CL E G H627893ORPHA135431033113505
HP:0000518HP:0000518Cataract0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000518HP:0000518Cataract0BMP4 CL E G H652139471ORPHA148891071112262
HP:0000518HP:0000518Cataract0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0000518HP:0000518Cataract0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0000518HP:0000518Cataract0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000518HP:0000518Cataract0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0000518HP:0000518Cataract0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000518HP:0000518Cataract0C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM11711927232614477
HP:0000518HP:0000518Cataract0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000518HP:0000518Cataract0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000518HP:0000518Cataract0CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0000518HP:0000518Cataract0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM19658429253612013
HP:0000518HP:0000518Cataract0CDH23 CL E G H64072231169ORPHA1361143713733605516
HP:0000518HP:0000518Cataract0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000518HP:0000518Cataract0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181431857600236
HP:0000518HP:0000518Cataract0CEP290 CL E G H80184564ORPHA131088429021610142
HP:0000518HP:0000518Cataract0CEP290 CL E G H8018465ORPHA131088429021610142
HP:0000518HP:0000518Cataract0CEP55 CL E G H55165564ORPHA12341161610000
HP:0000518HP:0000518Cataract0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0000518HP:0000518Cataract0CEP78 CL E G H84131231183ORPHA11015525740617110
HP:0000518HP:0000518Cataract0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000518HP:0000518Cataract0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12118229861300350
HP:0000518HP:0000518Cataract0CIB2 CL E G H10518231169ORPHA1186524579605564
HP:0000518HP:0000518Cataract0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1734932074607042
HP:0000518HP:0000518Cataract0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12521730664616254
HP:0000518HP:0000518Cataract0CLRN1 CL E G H7401231183ORPHA13917512605606397
HP:0000518HP:0000518Cataract0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000518HP:0000518Cataract0CNBP CL E G H7555606ORPHA111213164116955
HP:0000518HP:0000518Cataract0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000518HP:0000518Cataract0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000518HP:0000518Cataract0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM11264102153605080
HP:0000518HP:0000518Cataract0COG4 CL E G H2583985172ORPHA1614118620606976
HP:0000518HP:0000518Cataract0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM1614118620606976
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0000518HP:0000518Cataract0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280166011ORPHA15707312200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM15707312200120140
HP:0000518HP:0000518Cataract0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0000518HP:0000518Cataract0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12726132204120070
HP:0000518HP:0000518Cataract0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12336882206120131
HP:0000518HP:0000518Cataract0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0000518HP:0000518Cataract0COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0000518HP:0000518Cataract0COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0000518HP:0000518Cataract0COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0000518HP:0000518Cataract0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0000518HP:0000518Cataract0CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM165823228608841
HP:0000518HP:0000518Cataract0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0000518HP:0000518Cataract0CRB1 CL E G H2341865ORPHA13475442343604210
HP:0000518HP:0000518Cataract0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000518HP:0000518Cataract0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13475442343604210
HP:0000518HP:0000518Cataract0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000518HP:0000518Cataract0CRX CL E G H140665ORPHA11072982383602225
HP:0000518HP:0000518Cataract0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000518HP:0000518Cataract0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11072982383602225
HP:0000518HP:0000518Cataract0CRYAA CL E G H14091377ORPHA1271292388123580
HP:0000518HP:0000518Cataract0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM1301342389123590
HP:0000518HP:0000518Cataract0CRYBA4 CL E G H14131377ORPHA110842396123631
HP:0000518HP:0000518Cataract0CRYBB1 CL E G H14141377ORPHA120652397600929
HP:0000518HP:0000518Cataract0CRYBB2 CL E G H14151377ORPHA127532398123620
HP:0000518HP:0000518Cataract0CRYGC CL E G H14201377ORPHA128502410123680
HP:0000518HP:0000518Cataract0CRYGD CL E G H14211377ORPHA127732411123690
HP:0000518HP:0000518Cataract0CRYGS CL E G H1427116100Membranous cataract116100C0524524OMIM19492417123730
HP:0000518HP:0000518Cataract0CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0000518HP:0000518Cataract0CTDP1 CL E G H915048431ORPHA112472498604927
HP:0000518HP:0000518Cataract0CYP27A1 CL E G H1593909ORPHA11163032605606530
HP:0000518HP:0000518Cataract0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11163032605606530
HP:0000518HP:0000518Cataract0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0000518HP:0000518Cataract0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117672718600811
HP:0000518HP:0000518Cataract0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000518HP:0000518Cataract0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000518HP:0000518Cataract0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000518HP:0000518Cataract0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0000518HP:0000518Cataract0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0000518HP:0000518Cataract0DMPK CL E G H1760273ORPHA182332933605377
HP:0000518HP:0000518Cataract0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182332933605377
HP:0000518HP:0000518Cataract0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0000518HP:0000518Cataract0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421572995191350
HP:0000518HP:0000518Cataract0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0000518HP:0000518Cataract0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0000518HP:0000518Cataract0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000518HP:0000518Cataract0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0000518HP:0000518Cataract0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000518HP:0000518Cataract0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA16849529331615068
HP:0000518HP:0000518Cataract0ERCC1 CL E G H20671466ORPHA18533433126380
HP:0000518HP:0000518Cataract0ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11082273434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM11082273434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11082273434126340
HP:0000518HP:0000518Cataract0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11082273434126340
HP:0000518HP:0000518Cataract0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201223435133510
HP:0000518HP:0000518Cataract0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201223435133510
HP:0000518HP:0000518Cataract0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1723483436133520
HP:0000518HP:0000518Cataract0ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0000518HP:0000518Cataract0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1592633437133530
HP:0000518HP:0000518Cataract0ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0000518HP:0000518Cataract0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0000518HP:0000518Cataract0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000518HP:0000518Cataract0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000518HP:0000518Cataract0ESCO2 CL E G H1575703103ORPHA13121527230609353
HP:0000518HP:0000518Cataract0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000518HP:0000518Cataract0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000518HP:0000518Cataract0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000518HP:0000518Cataract0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0000518HP:0000518Cataract0FAS CL E G H3553437ORPHA114216911920134637
HP:0000518HP:0000518Cataract0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0000518HP:0000518Cataract0FGF5 CL E G H2250190330Trichomegaly190330C0854699OMIM15273683165190
HP:0000518HP:0000518Cataract0FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0000518HP:0000518Cataract0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000518HP:0000518Cataract0FKRP CL E G H79147588ORPHA114140217997606596
HP:0000518HP:0000518Cataract0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000518HP:0000518Cataract0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000518HP:0000518Cataract0FKTN CL E G H2218588ORPHA1594503622607440
HP:0000518HP:0000518Cataract0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000518HP:0000518Cataract0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000518HP:0000518Cataract0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11225203755603381
HP:0000518HP:0000518Cataract0FOXC1 CL E G H2296250923ORPHA11392153800601090
HP:0000518HP:0000518Cataract0FOXC2 CL E G H230333001ORPHA197983801602402
HP:0000518HP:0000518Cataract0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131863808601094
HP:0000518HP:0000518Cataract0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000518HP:0000518Cataract0FTL CL E G H2512163Schizophrenia mental retardation deafness retinitisORPHA164913999134790
HP:0000518HP:0000518Cataract0FYCO1 CL E G H79443610019Cataract, autosomal recessive congenital 2610019C1864908OMIM12026414673607182
HP:0000518HP:0000518Cataract0GALK1 CL E G H258479237ORPHA1472314118604313
HP:0000518HP:0000518Cataract0GALK1 CL E G H2584230200Deficiency of galactokinase230200C0268155OMIM1472314118604313
HP:0000518HP:0000518Cataract0GALT CL E G H259279239ORPHA13375554135606999
HP:0000518HP:0000518Cataract0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13375554135606999
HP:0000518HP:0000518Cataract0GBA2 CL E G H57704320391ORPHA12319418986609471
HP:0000518HP:0000518Cataract0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM12319418986609471
HP:0000518HP:0000518Cataract0GCM2 CL E G H9247146200Hypoparathyroidism familial isolated146200C1832648OMIM1211164198603716
HP:0000518HP:0000518Cataract0GDF6 CL E G H39225565ORPHA1211654221601147
HP:0000518HP:0000518Cataract0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM1512815717606969
HP:0000518HP:0000518Cataract0GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM16964236600924
HP:0000518HP:0000518Cataract0GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000518HP:0000518Cataract0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11091414274121014
HP:0000518HP:0000518Cataract0GJA8 CL E G H27031377ORPHA1633474281600897
HP:0000518HP:0000518Cataract0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA1401224285603324
HP:0000518HP:0000518Cataract0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA121464286605425
HP:0000518HP:0000518Cataract0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA1341574288604418
HP:0000518HP:0000518Cataract0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1341574288604418
HP:0000518HP:0000518Cataract0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0000518HP:0000518Cataract0GMPPB CL E G H29925588ORPHA14915122932615320
HP:0000518HP:0000518Cataract0GNAS CL E G H277894089ORPHA12792164392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H277879444ORPHA12792164392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H277879443ORPHA12792164392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM12792164392139320
HP:0000518HP:0000518Cataract0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM12792164392139320
HP:0000518HP:0000518Cataract0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161444416602744
HP:0000518HP:0000518Cataract0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0000518HP:0000518Cataract0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000518HP:0000518Cataract0GUCY2D CL E G H300065ORPHA12433884689600179
HP:0000518HP:0000518Cataract0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0000518HP:0000518Cataract0HARS CL E G H3035231183ORPHA1134816142810
HP:0000518HP:0000518Cataract0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0000518HP:0000518Cataract0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000518HP:0000518Cataract0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177164931142800
HP:0000518HP:0000518Cataract0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0000518HP:0000518Cataract0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM121205037607137
HP:0000518HP:0000518Cataract0HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0000518HP:0000518Cataract0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0000518HP:0000518Cataract0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0000518HP:0000518Cataract0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1911429685612801
HP:0000518HP:0000518Cataract0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000518HP:0000518Cataract0IFT140 CL E G H974265ORPHA17253029077614620
HP:0000518HP:0000518Cataract0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000518HP:0000518Cataract0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000518HP:0000518Cataract0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000518HP:0000518Cataract0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0000518HP:0000518Cataract0IMPDH1 CL E G H361465ORPHA1241986052146690
HP:0000518HP:0000518Cataract0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000518HP:0000518Cataract0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000518HP:0000518Cataract0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM15432521474613037
HP:0000518HP:0000518Cataract0INPP5K CL E G H51763559ORPHA11013633882607875
HP:0000518HP:0000518Cataract0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11013633882607875
HP:0000518HP:0000518Cataract0IQCB1 CL E G H965765ORPHA14315528949609237
HP:0000518HP:0000518Cataract0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0000518HP:0000518Cataract0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000518HP:0000518Cataract0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM1411615532606871
HP:0000518HP:0000518Cataract0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H376965ORPHA1101096259603208
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101096259603208
HP:0000518HP:0000518Cataract0KCNJ13 CL E G H3769193230Snowflake vitreoretinal degeneration193230C1860405OMIM1101096259603208
HP:0000518HP:0000518Cataract0KCTD1 CL E G H2842522036ORPHA1114918249613420
HP:0000518HP:0000518Cataract0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA110894021136440
HP:0000518HP:0000518Cataract0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000518HP:0000518Cataract0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0000518HP:0000518Cataract0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000518HP:0000518Cataract0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0000518HP:0000518Cataract0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215588ORPHA1284066511603590
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM1284066511603590
HP:0000518HP:0000518Cataract0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000518HP:0000518Cataract0LCA5 CL E G H16769165ORPHA14924631923611408
HP:0000518HP:0000518Cataract0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953046654602575
HP:0000518HP:0000518Cataract0LONP1 CL E G H93611458ORPHA1191319479605490
HP:0000518HP:0000518Cataract0LRAT CL E G H922765ORPHA1241586685604863
HP:0000518HP:0000518Cataract0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241586685604863
HP:0000518HP:0000518Cataract0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM12214116697603506
HP:0000518HP:0000518Cataract0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM19426758604357
HP:0000518HP:0000518Cataract0MAF CL E G H40941377ORPHA1221726776177075
HP:0000518HP:0000518Cataract0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241416816154235
HP:0000518HP:0000518Cataract0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0000518HP:0000518Cataract0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1893177027604705
HP:0000518HP:0000518Cataract0MIP CL E G H4284615274Cataract 15, multiple types615274C3809001OMIM128727103154050
HP:0000518HP:0000518Cataract0MKS1 CL E G H54903564ORPHA1523347121609883
HP:0000518HP:0000518Cataract0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000518HP:0000518Cataract0MVK CL E G H459829ORPHA11832777530251170
HP:0000518HP:0000518Cataract0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0000518HP:0000518Cataract0MYO7A CL E G H4647231178ORPHA152712577606276903
HP:0000518HP:0000518Cataract0MYO7A CL E G H4647231169ORPHA152712577606276903
HP:0000518HP:0000518Cataract0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM135520967610672
HP:0000518HP:0000518Cataract0NAGA CL E G H466879281ORPHA1111307631104170
HP:0000518HP:0000518Cataract0NDP CL E G H4693649ORPHA11672077678300658
HP:0000518HP:0000518Cataract0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0000518HP:0000518Cataract0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0000518HP:0000518Cataract0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11287745604043
HP:0000518HP:0000518Cataract0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0000518HP:0000518Cataract0NF2 CL E G H4771637ORPHA14377777773607379
HP:0000518HP:0000518Cataract0NHS CL E G H4810627ORPHA1523537820300457
HP:0000518HP:0000518Cataract0NMNAT1 CL E G H6480265ORPHA17611217877608700
HP:0000518HP:0000518Cataract0NOD2 CL E G H6412790340ORPHA11214425331605956
HP:0000518HP:0000518Cataract0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM11214425331605956
HP:0000518HP:0000518Cataract0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112414777881190198
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1802267974604485
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002268100Enhanced s-cone syndrome268100C1849394OMIM1802267974604485
HP:0000518HP:0000518Cataract0NR2E3 CL E G H10002611131Retinitis pigmentosa 37611131C1970163OMIM1802267974604485
HP:0000518HP:0000518Cataract0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251338002162080
HP:0000518HP:0000518Cataract0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0000518HP:0000518Cataract0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11625102567300170
HP:0000518HP:0000518Cataract0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178988522600037
HP:0000518HP:0000518Cataract0P3H2 CL E G H55214614292Myopia, high, with cataract and vitreoretinal degeneration614292C3280346OMIM1814319317610341
HP:0000518HP:0000518Cataract0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM19809208582612349
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080893ORPHA15714968620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H50802253ORPHA15714968620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080250923ORPHA15714968620607108
HP:0000518HP:0000518Cataract0PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15714968620607108
HP:0000518HP:0000518Cataract0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15341834383613425
HP:0000518HP:0000518Cataract0PCDH15 CL E G H65217231169ORPHA1122104914674605514
HP:0000518HP:0000518Cataract0PCYT1A CL E G H513065ORPHA1201438754123695
HP:0000518HP:0000518Cataract0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1513438785180071
HP:0000518HP:0000518Cataract0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11334748786180072
HP:0000518HP:0000518Cataract0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12598789180073
HP:0000518HP:0000518Cataract0PDZD7 CL E G H79955231178ORPHA11920526257612971
HP:0000518HP:0000518Cataract0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000518HP:0000518Cataract0PEX1 CL E G H518944MYBPC1-related conditionORPHA11404898850602136
HP:0000518HP:0000518Cataract0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000518HP:0000518Cataract0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000518HP:0000518Cataract0PEX10 CL E G H519244MYBPC1-related conditionORPHA1323478851602859
HP:0000518HP:0000518Cataract0PEX11B CL E G H8799912ORPHA182478853603867
HP:0000518HP:0000518Cataract0PEX11B CL E G H879944MYBPC1-related conditionORPHA182478853603867
HP:0000518HP:0000518Cataract0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000518HP:0000518Cataract0PEX12 CL E G H519344MYBPC1-related conditionORPHA1371818854601758
HP:0000518HP:0000518Cataract0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000518HP:0000518Cataract0PEX13 CL E G H519444MYBPC1-related conditionORPHA1101968855601789
HP:0000518HP:0000518Cataract0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1101968855601789
HP:0000518HP:0000518Cataract0PEX14 CL E G H5195912ORPHA151768856601791
HP:0000518HP:0000518Cataract0PEX14 CL E G H519544MYBPC1-related conditionORPHA151768856601791
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H940944MYBPC1-related conditionORPHA1151498857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409614876Peroxisome biogenesis disorder 8A614876C3553959OMIM1151498857603360
HP:0000518HP:0000518Cataract0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0000518HP:0000518Cataract0PEX19 CL E G H5824912ORPHA141339713600279
HP:0000518HP:0000518Cataract0PEX19 CL E G H582444MYBPC1-related conditionORPHA141339713600279
HP:0000518HP:0000518Cataract0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000518HP:0000518Cataract0PEX2 CL E G H582844MYBPC1-related conditionORPHA1182089717170993
HP:0000518HP:0000518Cataract0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0000518HP:0000518Cataract0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000518HP:0000518Cataract0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12727722965608666
HP:0000518HP:0000518Cataract0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12727722965608666
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H850444MYBPC1-related conditionORPHA1101168858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM1101168858603164
HP:0000518HP:0000518Cataract0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM1101168858603164
HP:0000518HP:0000518Cataract0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000518HP:0000518Cataract0PEX5 CL E G H583044MYBPC1-related conditionORPHA1142809719600414
HP:0000518HP:0000518Cataract0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0000518HP:0000518Cataract0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000518HP:0000518Cataract0PEX6 CL E G H519044MYBPC1-related conditionORPHA11093758859601498
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191773ORPHA1531878860601757
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191614879Peroxisome biogenesis disorder 9B614879CN159238OMIM1531878860601757
HP:0000518HP:0000518Cataract0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM1531878860601757
HP:0000518HP:0000518Cataract0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0000518HP:0000518Cataract0PHYH CL E G H5264773ORPHA1371278940602026
HP:0000518HP:0000518Cataract0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM1371278940602026
HP:0000518HP:0000518Cataract0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM1573798975171834
HP:0000518HP:0000518Cataract0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000518HP:0000518Cataract0PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM115299006602669
HP:0000518HP:0000518Cataract0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM169411397605031
HP:0000518HP:0000518Cataract0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000518HP:0000518Cataract0PMPCA CL E G H232031170ORPHA189618667613036
HP:0000518HP:0000518Cataract0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11616723166610316
HP:0000518HP:0000518Cataract0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130011969179174763
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624588ORPHA18946119139606822
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18946119139606822
HP:0000518HP:0000518Cataract0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000518HP:0000518Cataract0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1814826267615247
HP:0000518HP:0000518Cataract0POMT1 CL E G H10585588ORPHA1965089202607423
HP:0000518HP:0000518Cataract0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954588ORPHA17550219743607439
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000518HP:0000518Cataract0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000518HP:0000518Cataract0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000518HP:0000518Cataract0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179232528610598
HP:0000518HP:0000518Cataract0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1833409454604365
HP:0000518HP:0000518Cataract0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177917348607301
HP:0000518HP:0000518Cataract0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117523215446606419
HP:0000518HP:0000518Cataract0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147317349607795
HP:0000518HP:0000518Cataract0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11117015860613979
HP:0000518HP:0000518Cataract0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15333917340607300
HP:0000518HP:0000518Cataract0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11813449942179605
HP:0000518HP:0000518Cataract0PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0000518HP:0000518Cataract0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0000518HP:0000518Cataract0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0000518HP:0000518Cataract0PTEN CL E G H57282969ORPHA165820199588601728
HP:0000518HP:0000518Cataract0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM165820199588601728
HP:0000518HP:0000518Cataract0PTH CL E G H5741146200Hypoparathyroidism familial isolated146200C1832648OMIM18379606168450
HP:0000518HP:0000518Cataract0PTH1R CL E G H574550945ORPHA1451009608168468
HP:0000518HP:0000518Cataract0PTPN22 CL E G H261913437ORPHA114289652600716
HP:0000518HP:0000518Cataract0RAB18 CL E G H229312510ORPHA1515414244602207
HP:0000518HP:0000518Cataract0RAB3GAP1 CL E G H229302510ORPHA16719317063602536
HP:0000518HP:0000518Cataract0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA16719317063602536
HP:0000518HP:0000518Cataract0RAB3GAP2 CL E G H25782401830ORPHA11629417168609275
HP:0000518HP:0000518Cataract0RAB3GAP2 CL E G H257822510ORPHA11629417168609275
HP:0000518HP:0000518Cataract0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA11629417168609275
HP:0000518HP:0000518Cataract0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0000518HP:0000518Cataract0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0000518HP:0000518Cataract0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1183779921180290
HP:0000518HP:0000518Cataract0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110735724147183
HP:0000518HP:0000518Cataract0RD3 CL E G H34303565ORPHA11316419689180040
HP:0000518HP:0000518Cataract0RDH12 CL E G H14522665ORPHA110917819977608830
HP:0000518HP:0000518Cataract0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110917819977608830
HP:0000518HP:0000518Cataract0RECQL4 CL E G H9401221016ORPHA112220289949603780
HP:0000518HP:0000518Cataract0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA186930078609346
HP:0000518HP:0000518Cataract0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111149990600342
HP:0000518HP:0000518Cataract0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121926710012180380
HP:0000518HP:0000518Cataract0RHO CL E G H6010613731Retinitis pigmentosa 4613731C3151001OMIM121926710012180380
HP:0000518HP:0000518Cataract0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13713910024180090
HP:0000518HP:0000518Cataract0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11811310254180721
HP:0000518HP:0000518Cataract0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119045810263603937
HP:0000518HP:0000518Cataract0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112128910274300757
HP:0000518HP:0000518Cataract0RP2 CL E G H6102312600Retinitis pigmentosa 2312600C2681923OMIM112128910274300757
HP:0000518HP:0000518Cataract0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145010288607331
HP:0000518HP:0000518Cataract0RPE65 CL E G H612165ORPHA120832710294180069
HP:0000518HP:0000518Cataract0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120832710294180069
HP:0000518HP:0000518Cataract0RPE65 CL E G H6121204100Leber congenital amaurosis 2204100C1859844OMIM120832710294180069
HP:0000518HP:0000518Cataract0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124566210295312610
HP:0000518HP:0000518Cataract0RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0000518HP:0000518Cataract0RPGRIP1 CL E G H5709665ORPHA114936113436605446
HP:0000518HP:0000518Cataract0RPGRIP1 CL E G H57096613826Leber congenital amaurosis 6613826C1854260OMIM114936113436605446
HP:0000518HP:0000518Cataract0RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0000518HP:0000518Cataract0RS1 CL E G H6247792ORPHA127945410457300839
HP:0000518HP:0000518Cataract0RSPO2 CL E G H3404193301Lowry syndromeORPHA124128583610575
HP:0000518HP:0000518Cataract0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11613210521181031
HP:0000518HP:0000518Cataract0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15714815924607343
HP:0000518HP:0000518Cataract0SC5D CL E G H630946059ORPHA1618210547602286
HP:0000518HP:0000518Cataract0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187113081611611
HP:0000518HP:0000518Cataract0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11714010729607292
HP:0000518HP:0000518Cataract0SIL1 CL E G H64374559ORPHA14916724624608005
HP:0000518HP:0000518Cataract0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM1115910892606326
HP:0000518HP:0000518Cataract0SLC16A12 CL E G H387700612018Cataract, juvenile, with microcornea and glucosuria612018C2677587OMIM1182523094611910
HP:0000518HP:0000518Cataract0SLC25A4 CL E G H2911369ORPHA11723410990103220
HP:0000518HP:0000518Cataract0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM128151611005138140
HP:0000518HP:0000518Cataract0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM176095603690
HP:0000518HP:0000518Cataract0SLC40A1 CL E G H30061606069Hemochromatosis type 4606069C1853733OMIM16713410909604653
HP:0000518HP:0000518Cataract0SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12218711030603345
HP:0000518HP:0000518Cataract0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1810929326615720
HP:0000518HP:0000518Cataract0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA112550029090614982
HP:0000518HP:0000518Cataract0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13529930859601664
HP:0000518HP:0000518Cataract0SPATA7 CL E G H5581265ORPHA13915220423609868
HP:0000518HP:0000518Cataract0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13915220423609868
HP:0000518HP:0000518Cataract0SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM11613925812611715
HP:0000518HP:0000518Cataract0STX16 CL E G H867594089ORPHA1615511431603666
HP:0000518HP:0000518Cataract0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0000518HP:0000518Cataract0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0000518HP:0000518Cataract0TBC1D20 CL E G H1286372510ORPHA1710216133611663
HP:0000518HP:0000518Cataract0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM15656429203613577
HP:0000518HP:0000518Cataract0TBR1 CL E G H107161617ORPHA1187811590604616
HP:0000518HP:0000518Cataract0TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0000518HP:0000518Cataract0TDRD7 CL E G H23424613887Cataract, autosomal recessive congenital 4613887C3151304OMIM1512230831611258
HP:0000518HP:0000518Cataract0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000518HP:0000518Cataract0TGFBI CL E G H7045121900Groenouw corneal dystrophy type I121900C1641846OMIM17011911771601692
HP:0000518HP:0000518Cataract0TMEM107 CL E G H84314564ORPHA138128128616183
HP:0000518HP:0000518Cataract0TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0000518HP:0000518Cataract0TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0000518HP:0000518Cataract0TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0000518HP:0000518Cataract0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12222921653609507
HP:0000518HP:0000518Cataract0TRAPPC11 CL E G H60684369847ORPHA11735125751614138
HP:0000518HP:0000518Cataract0TRAPPC11 CL E G H60684369840ORPHA11735125751614138
HP:0000518HP:0000518Cataract0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11735125751614138
HP:0000518HP:0000518Cataract0TRIM44 CL E G H54765250923ORPHA112619016612298
HP:0000518HP:0000518Cataract0TRIM44 CL E G H54765617142Aniridia 3617142C4310695OMIM112619016612298
HP:0000518HP:0000518Cataract0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1216212307604507
HP:0000518HP:0000518Cataract0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11612820087608132
HP:0000518HP:0000518Cataract0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139812406601197
HP:0000518HP:0000518Cataract0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1748418127610053
HP:0000518HP:0000518Cataract0TULP1 CL E G H728765ORPHA17520812423602280
HP:0000518HP:0000518Cataract0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17520812423602280
HP:0000518HP:0000518Cataract0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM1184823230610552
HP:0000518HP:0000518Cataract0USH1C CL E G H10083231169ORPHA15147712597605242
HP:0000518HP:0000518Cataract0USH1G CL E G H124590231169ORPHA13217116356607696
HP:0000518HP:0000518Cataract0USH2A CL E G H7399231178ORPHA11234235412601608400
HP:0000518HP:0000518Cataract0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234235412601608400
HP:0000518HP:0000518Cataract0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000518HP:0000518Cataract0VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0000518HP:0000518Cataract0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1244392464118661
HP:0000518HP:0000518Cataract0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM12837412698192977
HP:0000518HP:0000518Cataract0VSX2 CL E G H338917610092Microphthalmia, isolated, with coloboma 3610092C1864721OMIM1131491975142993
HP:0000518HP:0000518Cataract0WDPCP CL E G H51057564ORPHA1817628027613580
HP:0000518HP:0000518Cataract0WDR19 CL E G H57728614376Asphyxiating thoracic dystrophy 5614376C3280598OMIM14529418340608151
HP:0000518HP:0000518Cataract0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0000518HP:0000518Cataract0WHRN CL E G H25861231178ORPHA13234816361607928
HP:0000518HP:0000518Cataract0WNT3 CL E G H74733301Lowry syndromeORPHA122212782165330
HP:0000518HP:0000518Cataract0WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM122212782165330
HP:0000518HP:0000518Cataract0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1115137512791604611
HP:0000518HP:0000518Cataract0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1115137512791604611
HP:0000518HP:0000518Cataract0WT1 CL E G H7490893ORPHA118463512796607102
HP:0000518HP:0000518Cataract0WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118463512796607102
HP:0000518HP:0000518Cataract0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15115512814611153
HP:0000518HP:0000518Cataract0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110030712816613208
HP:0000518HP:0000518Cataract0XYLT2 CL E G H6413285194ORPHA1135715517608125
HP:0000518HP:0000518Cataract0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0000518HP:0000518Cataract0ZBTB20 CL E G H261373042ORPHA12510913503606025
HP:0000518HP:0000518Cataract0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM11412715807610827
HP:0000518HP:0000518Cataract0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11411220041616454
HP:0000518HP:0000518Cataract0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312026498613598
HP:0000518HP:0000518Cataract1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000518HP:0000518Cataract1ACTB CL E G H6079107ORPHA165224132102630
HP:0000518HP:0000518Cataract1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165224132102630
HP:0000518HP:0000518Cataract1ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM11516513201608990
HP:0000518HP:0000518Cataract1ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM12718019706610113
HP:0000518HP:0000518Cataract1ADGRV1 CL E G H84059231178ORPHA1249147917416602851
HP:0000518HP:0000518Cataract1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0000518HP:0000518Cataract1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000518HP:0000518Cataract1AGK CL E G H557501369ORPHA12718621869610345
HP:0000518HP:0000518Cataract1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000518HP:0000518Cataract1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000518HP:0000518Cataract1AIPL1 CL E G H2374665ORPHA179232359604392
HP:0000518HP:0000518Cataract1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1141417360607358
HP:0000518HP:0000518Cataract1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112269391164730
HP:0000518HP:0000518Cataract1ALDH18A1 CL E G H583235664ORPHA1332529722138250
HP:0000518HP:0000518Cataract1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0000518HP:0000518Cataract1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM1332529722138250
HP:0000518HP:0000518Cataract1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0000518HP:0000518Cataract1ALG2 CL E G H8536579326ORPHA1515323159607905
HP:0000518HP:0000518Cataract1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0000518HP:0000518Cataract1ALG8 CL E G H7905379325ORPHA1179623161608103
HP:0000518HP:0000518Cataract1ALMS1 CL E G H784064ORPHA13161745428606844
HP:0000518HP:0000518Cataract1ALX1 CL E G H8092306542ORPHA15291494601527
HP:0000518HP:0000518Cataract1ALX3 CL E G H257391474ORPHA1835449606014
HP:0000518HP:0000518Cataract1ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000518HP:0000518Cataract1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1710329216610911
HP:0000518HP:0000518Cataract1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000518HP:0000518Cataract1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000518HP:0000518Cataract1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000518HP:0000518Cataract1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM1333694604695
HP:0000518HP:0000518Cataract1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000518HP:0000518Cataract1ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM146719300180
HP:0000518HP:0000518Cataract1ARSG CL E G H22901231183ORPHA137324102610008
HP:0000518HP:0000518Cataract1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0000518HP:0000518Cataract1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000518HP:0000518Cataract1B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0000518HP:0000518Cataract1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0000518HP:0000518Cataract1B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000518HP:0000518Cataract1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000518HP:0000518Cataract1B9D1 CL E G H27077564ORPHA11015824123614144
HP:0000518HP:0000518Cataract1B9D2 CL E G H80776564ORPHA144028636611951
HP:0000518HP:0000518Cataract1BBIP1 CL E G H92482615995Bardet-Biedl syndrome 18615995C3806174OMIM114328093613605
HP:0000518HP:0000518Cataract1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0000518HP:0000518Cataract1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000518HP:0000518Cataract1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA15541520893300485
HP:0000518HP:0000518Cataract1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371741020603647
HP:0000518HP:0000518Cataract1BDNF CL E G H627893ORPHA135431033113505
HP:0000518HP:0000518Cataract1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000518HP:0000518Cataract1BMP4 CL E G H652139471ORPHA148891071112262
HP:0000518HP:0000518Cataract1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0000518HP:0000518Cataract1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0000518HP:0000518Cataract1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000518HP:0000518Cataract1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0000518HP:0000518Cataract1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000518HP:0000518Cataract1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM11711927232614477
HP:0000518HP:0000518Cataract1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000518HP:0000518Cataract1CASK CL E G H8573163937ORPHA11194461497300172
HP:0000518HP:0000518Cataract1CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0000518HP:0000518Cataract1CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM19658429253612013
HP:0000518HP:0000518Cataract1CDH23 CL E G H64072231169ORPHA1361143713733605516
HP:0000518HP:0000518Cataract1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000518HP:0000518Cataract1CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181431857600236
HP:0000518HP:0000518Cataract1CEP290 CL E G H80184564ORPHA131088429021610142
HP:0000518HP:0000518Cataract1CEP290 CL E G H8018465ORPHA131088429021610142
HP:0000518HP:0000518Cataract1CEP55 CL E G H55165564ORPHA12341161610000
HP:0000518HP:0000518Cataract1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0000518HP:0000518Cataract1CEP78 CL E G H84131231183ORPHA11015525740617110
HP:0000518HP:0000518Cataract1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000518HP:0000518Cataract1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12118229861300350
HP:0000518HP:0000518Cataract1CIB2 CL E G H10518231169ORPHA1186524579605564
HP:0000518HP:0000518Cataract1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1734932074607042
HP:0000518HP:0000518Cataract1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12521730664616254
HP:0000518HP:0000518Cataract1CLRN1 CL E G H7401231183ORPHA13917512605606397
HP:0000518HP:0000518Cataract1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000518HP:0000518Cataract1CNBP CL E G H7555606ORPHA111213164116955
HP:0000518HP:0000518Cataract1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000518HP:0000518Cataract1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000518HP:0000518Cataract1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM11264102153605080
HP:0000518HP:0000518Cataract1COG4 CL E G H2583985172ORPHA1614118620606976
HP:0000518HP:0000518Cataract1COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM1614118620606976
HP:0000518HP:0000518Cataract1COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0000518HP:0000518Cataract1COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000518HP:0000518Cataract1COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0000518HP:0000518Cataract1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000518HP:0000518Cataract1COL2A1 CL E G H1280166011ORPHA15707312200120140
HP:0000518HP:0000518Cataract1COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0000518HP:0000518Cataract1COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM15707312200120140
HP:0000518HP:0000518Cataract1COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0000518HP:0000518Cataract1COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12726132204120070
HP:0000518HP:0000518Cataract1COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12336882206120131
HP:0000518HP:0000518Cataract1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0000518HP:0000518Cataract1COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0000518HP:0000518Cataract1COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0000518HP:0000518Cataract1COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0000518HP:0000518Cataract1COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0000518HP:0000518Cataract1CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM165823228608841
HP:0000518HP:0000518Cataract1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0000518HP:0000518Cataract1CRB1 CL E G H2341865ORPHA13475442343604210
HP:0000518HP:0000518Cataract1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000518HP:0000518Cataract1CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13475442343604210
HP:0000518HP:0000518Cataract1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000518HP:0000518Cataract1CRX CL E G H140665ORPHA11072982383602225
HP:0000518HP:0000518Cataract1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000518HP:0000518Cataract1CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11072982383602225
HP:0000518HP:0000518Cataract1CRYAA CL E G H14091377ORPHA1271292388123580
HP:0000518HP:0000518Cataract1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM1301342389123590
HP:0000518HP:0000518Cataract1CRYBA4 CL E G H14131377ORPHA110842396123631
HP:0000518HP:0000518Cataract1CRYBB1 CL E G H14141377ORPHA120652397600929
HP:0000518HP:0000518Cataract1CRYBB2 CL E G H14151377ORPHA127532398123620
HP:0000518HP:0000518Cataract1CRYGC CL E G H14201377ORPHA128502410123680
HP:0000518HP:0000518Cataract1CRYGD CL E G H14211377ORPHA127732411123690
HP:0000518HP:0000518Cataract1CRYGS CL E G H1427116100Membranous cataract116100C0524524OMIM19492417123730
HP:0000518HP:0000518Cataract1CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0000518HP:0000518Cataract1CTDP1 CL E G H915048431ORPHA112472498604927
HP:0000518HP:0000518Cataract1CYP27A1 CL E G H1593909ORPHA11163032605606530
HP:0000518HP:0000518Cataract1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11163032605606530
HP:0000518HP:0000518Cataract1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0000518HP:0000518Cataract1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117672718600811
HP:0000518HP:0000518Cataract1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000518HP:0000518Cataract1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000518HP:0000518Cataract1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000518HP:0000518Cataract1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0000518HP:0000518Cataract1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119492910605185
HP:0000518HP:0000518Cataract1DMPK CL E G H1760273ORPHA182332933605377
HP:0000518HP:0000518Cataract1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182332933605377
HP:0000518HP:0000518Cataract1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12221919189614194
HP:0000518HP:0000518Cataract1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421572995191350
HP:0000518HP:0000518Cataract1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0000518HP:0000518Cataract1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0000518HP:0000518Cataract1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000518HP:0000518Cataract1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA195128526614789
HP:0000518HP:0000518Cataract1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000518HP:0000518Cataract1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA16849529331615068
HP:0000518HP:0000518Cataract1ERCC1 CL E G H20671466ORPHA18533433126380
HP:0000518HP:0000518Cataract1ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0000518HP:0000518Cataract1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11082273434126340
HP:0000518HP:0000518Cataract1ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM11082273434126340
HP:0000518HP:0000518Cataract1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11082273434126340
HP:0000518HP:0000518Cataract1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11082273434126340
HP:0000518HP:0000518Cataract1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201223435133510
HP:0000518HP:0000518Cataract1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201223435133510
HP:0000518HP:0000518Cataract1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1723483436133520
HP:0000518HP:0000518Cataract1ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0000518HP:0000518Cataract1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1592633437133530
HP:0000518HP:0000518Cataract1ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0000518HP:0000518Cataract1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0000518HP:0000518Cataract1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000518HP:0000518Cataract1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000518HP:0000518Cataract1ESCO2 CL E G H1575703103ORPHA13121527230609353
HP:0000518HP:0000518Cataract1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000518HP:0000518Cataract1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000518HP:0000518Cataract1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000518HP:0000518Cataract1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0000518HP:0000518Cataract1FAS CL E G H3553437ORPHA114216911920134637
HP:0000518HP:0000518Cataract1FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM1272142843603134797
HP:0000518HP:0000518Cataract1FGF5 CL E G H2250190330Trichomegaly190330C0854699OMIM15273683165190
HP:0000518HP:0000518Cataract1FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0000518HP:0000518Cataract1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000518HP:0000518Cataract1FKRP CL E G H79147588ORPHA114140217997606596
HP:0000518HP:0000518Cataract1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000518HP:0000518Cataract1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000518HP:0000518Cataract1FKTN CL E G H2218588ORPHA1594503622607440
HP:0000518HP:0000518Cataract1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000518HP:0000518Cataract1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000518HP:0000518Cataract1FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM11225203755603381
HP:0000518HP:0000518Cataract1FOXC1 CL E G H2296250923ORPHA11392153800601090
HP:0000518HP:0000518Cataract1FOXC2 CL E G H230333001ORPHA197983801602402
HP:0000518HP:0000518Cataract1FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131863808601094
HP:0000518HP:0000518Cataract1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000518HP:0000518Cataract1FTL CL E G H2512163Schizophrenia mental retardation deafness retinitisORPHA164913999134790
HP:0000518HP:0000518Cataract1FYCO1 CL E G H79443610019Cataract, autosomal recessive congenital 2610019C1864908OMIM12026414673607182
HP:0000518HP:0000518Cataract1GALK1 CL E G H258479237ORPHA1472314118604313
HP:0000518HP:0000518Cataract1GALK1 CL E G H2584230200Deficiency of galactokinase230200C0268155OMIM1472314118604313
HP:0000518HP:0000518Cataract1GALT CL E G H259279239ORPHA13375554135606999
HP:0000518HP:0000518Cataract1GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13375554135606999
HP:0000518HP:0000518Cataract1GBA2 CL E G H57704320391ORPHA12319418986609471
HP:0000518HP:0000518Cataract1GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM12319418986609471
HP:0000518HP:0000518Cataract1GCM2 CL E G H9247146200Hypoparathyroidism familial isolated146200C1832648OMIM1211164198603716
HP:0000518HP:0000518Cataract1GDF6 CL E G H39225565ORPHA1211654221601147
HP:0000518HP:0000518Cataract1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM1512815717606969
HP:0000518HP:0000518Cataract1GFER CL E G H2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay613076C2751320OMIM16964236600924
HP:0000518HP:0000518Cataract1GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000518HP:0000518Cataract1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0000518HP:0000518Cataract1GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000518HP:0000518Cataract1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11091414274121014
HP:0000518HP:0000518Cataract1GJA8 CL E G H27031377ORPHA1633474281600897
HP:0000518HP:0000518Cataract1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA1401224285603324
HP:0000518HP:0000518Cataract1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA121464286605425
HP:0000518HP:0000518Cataract1GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA1341574288604418
HP:0000518HP:0000518Cataract1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1341574288604418
HP:0000518HP:0000518Cataract1GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0000518HP:0000518Cataract1GMPPB CL E G H29925588ORPHA14915122932615320
HP:0000518HP:0000518Cataract1GNAS CL E G H277894089ORPHA12792164392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H277879444ORPHA12792164392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H277879443ORPHA12792164392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM12792164392139320
HP:0000518HP:0000518Cataract1GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM12792164392139320
HP:0000518HP:0000518Cataract1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161444416602744
HP:0000518HP:0000518Cataract1GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM163321157608780
HP:0000518HP:0000518Cataract1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000518HP:0000518Cataract1GUCY2D CL E G H300065ORPHA12433884689600179
HP:0000518HP:0000518Cataract1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0000518HP:0000518Cataract1HARS CL E G H3035231183ORPHA1134816142810
HP:0000518HP:0000518Cataract1HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0000518HP:0000518Cataract1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000518HP:0000518Cataract1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177164931142800
HP:0000518HP:0000518Cataract1HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0000518HP:0000518Cataract1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM121205037607137
HP:0000518HP:0000518Cataract1HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0000518HP:0000518Cataract1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0000518HP:0000518Cataract1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0000518HP:0000518Cataract1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1911429685612801
HP:0000518HP:0000518Cataract1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000518HP:0000518Cataract1IFT140 CL E G H974265ORPHA17253029077614620
HP:0000518HP:0000518Cataract1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000518HP:0000518Cataract1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000518HP:0000518Cataract1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000518HP:0000518Cataract1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0000518HP:0000518Cataract1IMPDH1 CL E G H361465ORPHA1241986052146690
HP:0000518HP:0000518Cataract1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000518HP:0000518Cataract1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000518HP:0000518Cataract1INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM15432521474613037
HP:0000518HP:0000518Cataract1INPP5K CL E G H51763559ORPHA11013633882607875
HP:0000518HP:0000518Cataract1INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11013633882607875
HP:0000518HP:0000518Cataract1IQCB1 CL E G H965765ORPHA14315528949609237
HP:0000518HP:0000518Cataract1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0000518HP:0000518Cataract1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000518HP:0000518Cataract1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM1411615532606871
HP:0000518HP:0000518Cataract1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000518HP:0000518Cataract1KCNJ13 CL E G H376965ORPHA1101096259603208
HP:0000518HP:0000518Cataract1KCNJ13 CL E G H3769614186Leber congenital amaurosis 1