Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the orbital region (HP:0000315)help
Parent Node:
expand
Abnormality iris morphology (HP:0000525)help
Parent Node:
expand
Coloboma (HP:0000589)help
..Starting node
..expand
Iris coloboma (HP:0000612)help
Term ID: 612
Name: Iris coloboma
Synonym: Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris
Definition: A coloboma of the iris.
Comments:
Reference: HP:0000612
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChorioretinal coloboma (HP:0000567) help
..expandCiliary body coloboma (HP:0020006) help
..expandLens coloboma (HP:0100719) help
..expandOptic disc coloboma (HP:0000588) help
..expandRetinal coloboma (HP:0000480) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000612HP:0000612Iris coloboma0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0000612HP:0000612Iris coloboma0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0000612HP:0000612Iris coloboma0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0000612HP:0000612Iris coloboma0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0000612HP:0000612Iris coloboma0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0000612HP:0000612Iris coloboma0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0000612HP:0000612Iris coloboma0ALG2 CL E G H8536579326ORPHA124123159607905
HP:0000612HP:0000612Iris coloboma0ALG2 CL E G H8536579326ORPHA119323159607905
HP:0000612HP:0000612Iris coloboma0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0000612HP:0000612Iris coloboma0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0000612HP:0000612Iris coloboma0ALX3 CL E G H257391474ORPHA143449606014
HP:0000612HP:0000612Iris coloboma0ALX3 CL E G H257391474ORPHA142449606014
HP:0000612HP:0000612Iris coloboma0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0000612HP:0000612Iris coloboma0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0000612HP:0000612Iris coloboma0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000612HP:0000612Iris coloboma0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H54880568Aggressive fibromatosisORPHA153620893300485
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H54880568Aggressive fibromatosisORPHA150220893300485
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0000612HP:0000612Iris coloboma0BMP4 CL E G H652139471ORPHA11291071112262
HP:0000612HP:0000612Iris coloboma0BMP4 CL E G H652139471ORPHA11121071112262
HP:0000612HP:0000612Iris coloboma0C12orf57 CL E G H1132461777ORPHA120829521615140
HP:0000612HP:0000612Iris coloboma0C12orf57 CL E G H1132461777ORPHA119929521615140
HP:0000612HP:0000612Iris coloboma0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM120829521615140
HP:0000612HP:0000612Iris coloboma0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM119929521615140
HP:0000612HP:0000612Iris coloboma0CC2D2A CL E G H575452318ORPHA188129253612013
HP:0000612HP:0000612Iris coloboma0CC2D2A CL E G H575452318ORPHA1106429253612013
HP:0000612HP:0000612Iris coloboma0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0000612HP:0000612Iris coloboma0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0000612HP:0000612Iris coloboma0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM13141857600236
HP:0000612HP:0000612Iris coloboma0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM13521857600236
HP:0000612HP:0000612Iris coloboma0CEP290 CL E G H801842318ORPHA1190229021610142
HP:0000612HP:0000612Iris coloboma0CEP290 CL E G H801842318ORPHA1153529021610142
HP:0000612HP:0000612Iris coloboma0CHD7 CL E G H55636138ORPHA1198020626608892
HP:0000612HP:0000612Iris coloboma0CHD7 CL E G H55636138ORPHA1175220626608892
HP:0000612HP:0000612Iris coloboma0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11712291300885
HP:0000612HP:0000612Iris coloboma0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11752291300885
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H22602396ORPHA15303688136350
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H22602396ORPHA15973688136350
HP:0000612HP:0000612Iris coloboma0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0000612HP:0000612Iris coloboma0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0000612HP:0000612Iris coloboma0GDF3 CL E G H9573613702Klippel-Feil syndrome 3, autosomal dominant613702C3150967OMIM1824218606522
HP:0000612HP:0000612Iris coloboma0GDF3 CL E G H9573613702Klippel-Feil syndrome 3, autosomal dominant613702C3150967OMIM1774218606522
HP:0000612HP:0000612Iris coloboma0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12204837300056
HP:0000612HP:0000612Iris coloboma0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12144837300056
HP:0000612HP:0000612Iris coloboma0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000612HP:0000612Iris coloboma0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000612HP:0000612Iris coloboma0IGBP1 CL E G H347652055ORPHA11565461300139
HP:0000612HP:0000612Iris coloboma0IGBP1 CL E G H347652055ORPHA11535461300139
HP:0000612HP:0000612Iris coloboma0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11535461300139
HP:0000612HP:0000612Iris coloboma0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11565461300139
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA155921474613037
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA146621474613037
HP:0000612HP:0000612Iris coloboma0KIF1BP CL E G H2612866629ORPHA123419609367
HP:0000612HP:0000612Iris coloboma0KRAS CL E G H38452396ORPHA13416407190070
HP:0000612HP:0000612Iris coloboma0KRAS CL E G H38452396ORPHA13316407190070
HP:0000612HP:0000612Iris coloboma0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13416407190070
HP:0000612HP:0000612Iris coloboma0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13316407190070
HP:0000612HP:0000612Iris coloboma0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12286556604407
HP:0000612HP:0000612Iris coloboma0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA11886556604407
HP:0000612HP:0000612Iris coloboma0MAF CL E G H4094610202Cataract 21, multiple types610202C3888097OMIM12476776177075
HP:0000612HP:0000612Iris coloboma0MAF CL E G H4094610202Cataract 21, multiple types610202C3888097OMIM12786776177075
HP:0000612HP:0000612Iris coloboma0MBTPS2 CL E G H5136085284ORPHA124215455300294
HP:0000612HP:0000612Iris coloboma0MBTPS2 CL E G H5136085284ORPHA123115455300294
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM15537121609883
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM14777121609883
HP:0000612HP:0000612Iris coloboma0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM13617208603785
HP:0000612HP:0000612Iris coloboma0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM18227208603785
HP:0000612HP:0000612Iris coloboma0NAA10 CL E G H8260568Aggressive fibromatosisORPHA134818704300013
HP:0000612HP:0000612Iris coloboma0NAA10 CL E G H8260568Aggressive fibromatosisORPHA133318704300013
HP:0000612HP:0000612Iris coloboma0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0000612HP:0000612Iris coloboma0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0000612HP:0000612Iris coloboma0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM117720372300403
HP:0000612HP:0000612Iris coloboma0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM118320372300403
HP:0000612HP:0000612Iris coloboma0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117112768606026
HP:0000612HP:0000612Iris coloboma0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117512768606026
HP:0000612HP:0000612Iris coloboma0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12127989164790
HP:0000612HP:0000612Iris coloboma0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12267989164790
HP:0000612HP:0000612Iris coloboma0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA126212766602952
HP:0000612HP:0000612Iris coloboma0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA124912766602952
HP:0000612HP:0000612Iris coloboma0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM139718801614787
HP:0000612HP:0000612Iris coloboma0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM138118801614787
HP:0000612HP:0000612Iris coloboma0POLR1C CL E G H9533861ORPHA1101920194610060
HP:0000612HP:0000612Iris coloboma0POLR1C CL E G H9533861ORPHA1113120194610060
HP:0000612HP:0000612Iris coloboma0POLR1D CL E G H51082861ORPHA18220422613715
HP:0000612HP:0000612Iris coloboma0POLR1D CL E G H51082861ORPHA17920422613715
HP:0000612HP:0000612Iris coloboma0PORCN CL E G H648402092EhrlichiosisORPHA123517652300651
HP:0000612HP:0000612Iris coloboma0PORCN CL E G H648402092EhrlichiosisORPHA124517652300651
HP:0000612HP:0000612Iris coloboma0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0000612HP:0000612Iris coloboma0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM129889585601309
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM126289585601309
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM129889585601309
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM126289585601309
HP:0000612HP:0000612Iris coloboma0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM15419586603673
HP:0000612HP:0000612Iris coloboma0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM14269586603673
HP:0000612HP:0000612Iris coloboma0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA116439884614041
HP:0000612HP:0000612Iris coloboma0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA118839884614041
HP:0000612HP:0000612Iris coloboma0RBP4 CL E G H5950616428Microphthalmia, isolated, with coloboma 10616428C4225330OMIM1929922180250
HP:0000612HP:0000612Iris coloboma0RBP4 CL E G H5950616428Microphthalmia, isolated, with coloboma 10616428C4225330OMIM11169922180250
HP:0000612HP:0000612Iris coloboma0RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM11169922180250
HP:0000612HP:0000612Iris coloboma0RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM1929922180250
HP:0000612HP:0000612Iris coloboma0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA179429168610937
HP:0000612HP:0000612Iris coloboma0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA196429168610937
HP:0000612HP:0000612Iris coloboma0RSPO2 CL E G H3404193301Lowry syndromeORPHA14928583610575
HP:0000612HP:0000612Iris coloboma0RSPO2 CL E G H3404193301Lowry syndromeORPHA14828583610575
HP:0000612HP:0000612Iris coloboma0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM119815924607343
HP:0000612HP:0000612Iris coloboma0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM117815924607343
HP:0000612HP:0000612Iris coloboma0SEMA3E CL E G H9723138ORPHA134010727608166
HP:0000612HP:0000612Iris coloboma0SEMA3E CL E G H9723138ORPHA139810727608166
HP:0000612HP:0000612Iris coloboma0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM124510848600725
HP:0000612HP:0000612Iris coloboma0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM128310848600725
HP:0000612HP:0000612Iris coloboma0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0000612HP:0000612Iris coloboma0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0000612HP:0000612Iris coloboma0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA172429090614982
HP:0000612HP:0000612Iris coloboma0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA185929090614982
HP:0000612HP:0000612Iris coloboma0SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM118925812611715
HP:0000612HP:0000612Iris coloboma0SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM117325812611715
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM181516466607035
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM170316466607035
HP:0000612HP:0000612Iris coloboma0TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA120911600300307
HP:0000612HP:0000612Iris coloboma0TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA121211600300307
HP:0000612HP:0000612Iris coloboma0TCOF1 CL E G H6949861ORPHA138711654606847
HP:0000612HP:0000612Iris coloboma0TCOF1 CL E G H6949861ORPHA143811654606847
HP:0000612HP:0000612Iris coloboma0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM126529944610083
HP:0000612HP:0000612Iris coloboma0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM126729944610083
HP:0000612HP:0000612Iris coloboma0TFAP2A CL E G H70201297ORPHA114211742107580
HP:0000612HP:0000612Iris coloboma0TFAP2A CL E G H70201297ORPHA113211742107580
HP:0000612HP:0000612Iris coloboma0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0000612HP:0000612Iris coloboma0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0000612HP:0000612Iris coloboma0TMEM138 CL E G H515242318ORPHA18526944614459
HP:0000612HP:0000612Iris coloboma0TMEM138 CL E G H515242318ORPHA111226944614459
HP:0000612HP:0000612Iris coloboma0TMEM216 CL E G H512592318ORPHA116825018613277
HP:0000612HP:0000612Iris coloboma0TMEM216 CL E G H512592318ORPHA115125018613277
HP:0000612HP:0000612Iris coloboma0TMEM231 CL E G H795832318ORPHA120937234614949
HP:0000612HP:0000612Iris coloboma0TMEM231 CL E G H795832318ORPHA129937234614949
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H650622318ORPHA135914432614423
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H650622318ORPHA130114432614423
HP:0000612HP:0000612Iris coloboma0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA156928396609884
HP:0000612HP:0000612Iris coloboma0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA140228396609884
HP:0000612HP:0000612Iris coloboma0WNT3 CL E G H74733301Lowry syndromeORPHA14112782165330
HP:0000612HP:0000612Iris coloboma0WNT3 CL E G H74733301Lowry syndromeORPHA15112782165330
HP:0000612HP:0000612Iris coloboma0YAP1 CL E G H104131473Congenital articular rigidityORPHA15316262606608
HP:0000612HP:0000612Iris coloboma0YAP1 CL E G H104131473Congenital articular rigidityORPHA15516262606608
HP:0000612HP:0000612Iris coloboma0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM179014881605802
HP:0000612HP:0000612Iris coloboma0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM187314881605802
HP:0000612HP:0000612Iris coloboma0ZNF423 CL E G H230902318ORPHA142116762604557
HP:0000612HP:0000612Iris coloboma0ZNF423 CL E G H230902318ORPHA155316762604557
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000612HP:0000612Iris coloboma0AAAS CL E G H8086869ORPHA017413666605378
HP:0000612HP:0000612Iris coloboma0AAAS CL E G H8086869ORPHA016213666605378
HP:0000612HP:0000612Iris coloboma0AHI1 CL E G H54806220493ORPHA082721575608894
HP:0000612HP:0000612Iris coloboma0AHI1 CL E G H54806220493ORPHA065021575608894
HP:0000612HP:0000612Iris coloboma0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA082721575608894
HP:0000612HP:0000612Iris coloboma0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA065021575608894
HP:0000612HP:0000612Iris coloboma0ANK1 CL E G H286251066ORPHA0604492612641
HP:0000612HP:0000612Iris coloboma0ANK1 CL E G H286251066ORPHA0567492612641
HP:0000612HP:0000612Iris coloboma0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA018425419608922
HP:0000612HP:0000612Iris coloboma0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA022225419608922
HP:0000612HP:0000612Iris coloboma0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA090694604695
HP:0000612HP:0000612Iris coloboma0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA064694604695
HP:0000612HP:0000612Iris coloboma0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA025120730617612
HP:0000612HP:0000612Iris coloboma0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA038020730617612
HP:0000612HP:0000612Iris coloboma0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM07513907609875
HP:0000612HP:0000612Iris coloboma0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM010613907609875
HP:0000612HP:0000612Iris coloboma0B3GALNT2 CL E G H148789899ORPHA034328596610194
HP:0000612HP:0000612Iris coloboma0B3GALNT2 CL E G H148789899ORPHA041128596610194
HP:0000612HP:0000612Iris coloboma0B3GLCT CL E G H145173709ORPHA024820207610308
HP:0000612HP:0000612Iris coloboma0B3GLCT CL E G H145173709ORPHA022620207610308
HP:0000612HP:0000612Iris coloboma0B4GAT1 CL E G H11041899ORPHA015115685605517
HP:0000612HP:0000612Iris coloboma0B4GAT1 CL E G H11041899ORPHA012215685605517
HP:0000612HP:0000612Iris coloboma0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA023024123614144
HP:0000612HP:0000612Iris coloboma0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA019624123614144
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA053620893300485
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA050220893300485
HP:0000612HP:0000612Iris coloboma0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA025028909300859
HP:0000612HP:0000612Iris coloboma0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA024228909300859
HP:0000612HP:0000612Iris coloboma0CDON CL E G H50937280200ORPHA051817104608707
HP:0000612HP:0000612Iris coloboma0CDON CL E G H50937280200ORPHA048917104608707
HP:0000612HP:0000612Iris coloboma0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA035424866616690
HP:0000612HP:0000612Iris coloboma0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA038424866616690
HP:0000612HP:0000612Iris coloboma0CEP120 CL E G H153241220493ORPHA025026690613446
HP:0000612HP:0000612Iris coloboma0CEP120 CL E G H153241220493ORPHA021026690613446
HP:0000612HP:0000612Iris coloboma0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA025026690613446
HP:0000612HP:0000612Iris coloboma0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA021026690613446
HP:0000612HP:0000612Iris coloboma0CEP41 CL E G H95681220493ORPHA034712370610523
HP:0000612HP:0000612Iris coloboma0CEP41 CL E G H95681220493ORPHA029712370610523
HP:0000612HP:0000612Iris coloboma0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA029712370610523
HP:0000612HP:0000612Iris coloboma0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA034712370610523
HP:0000612HP:0000612Iris coloboma0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM0198020626608892
HP:0000612HP:0000612Iris coloboma0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM0175220626608892
HP:0000612HP:0000612Iris coloboma0CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000612HP:0000612Iris coloboma0CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000612HP:0000612Iris coloboma0COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000612HP:0000612Iris coloboma0COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000612HP:0000612Iris coloboma0COL4A1 CL E G H1282899ORPHA08372202120130
HP:0000612HP:0000612Iris coloboma0COL4A1 CL E G H1282899ORPHA010102202120130
HP:0000612HP:0000612Iris coloboma0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0123925801614571
HP:0000612HP:0000612Iris coloboma0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA082425801614571
HP:0000612HP:0000612Iris coloboma0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM01632309605032
HP:0000612HP:0000612Iris coloboma0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM01512309605032
HP:0000612HP:0000612Iris coloboma0CRYAA CL E G H14091377ORPHA01412388123580
HP:0000612HP:0000612Iris coloboma0CRYAA CL E G H14091377ORPHA01502388123580
HP:0000612HP:0000612Iris coloboma0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM01412388123580
HP:0000612HP:0000612Iris coloboma0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM01502388123580
HP:0000612HP:0000612Iris coloboma0CRYBA4 CL E G H14131377ORPHA01182396123631
HP:0000612HP:0000612Iris coloboma0CRYBA4 CL E G H14131377ORPHA01142396123631
HP:0000612HP:0000612Iris coloboma0CRYBB1 CL E G H14141377ORPHA0822397600929
HP:0000612HP:0000612Iris coloboma0CRYBB1 CL E G H14141377ORPHA0852397600929
HP:0000612HP:0000612Iris coloboma0CRYBB2 CL E G H14151377ORPHA01032398123620
HP:0000612HP:0000612Iris coloboma0CRYBB2 CL E G H14151377ORPHA0972398123620
HP:0000612HP:0000612Iris coloboma0CRYGC CL E G H14201377ORPHA0672410123680
HP:0000612HP:0000612Iris coloboma0CRYGC CL E G H14201377ORPHA0722410123680
HP:0000612HP:0000612Iris coloboma0CRYGD CL E G H14211377ORPHA0922411123690
HP:0000612HP:0000612Iris coloboma0CRYGD CL E G H14211377ORPHA0862411123690
HP:0000612HP:0000612Iris coloboma0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA047626193611654
HP:0000612HP:0000612Iris coloboma0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA068726193611654
HP:0000612HP:0000612Iris coloboma0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM01872494602618
HP:0000612HP:0000612Iris coloboma0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM01742494602618
HP:0000612HP:0000612Iris coloboma0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA05617748607861
HP:0000612HP:0000612Iris coloboma0DAG1 CL E G H1605899ORPHA03762666128239
HP:0000612HP:0000612Iris coloboma0DAG1 CL E G H1605899ORPHA04672666128239
HP:0000612HP:0000612Iris coloboma0DHCR7 CL E G H1717818ORPHA05462860602858
HP:0000612HP:0000612Iris coloboma0DHCR7 CL E G H1717818ORPHA05112860602858
HP:0000612HP:0000612Iris coloboma0DISP1 CL E G H84976280200ORPHA017819711607502
HP:0000612HP:0000612Iris coloboma0DISP1 CL E G H84976280200ORPHA014519711607502
HP:0000612HP:0000612Iris coloboma0DLL1 CL E G H28514280200ORPHA02062908606582
HP:0000612HP:0000612Iris coloboma0DLL1 CL E G H28514280200ORPHA01772908606582
HP:0000612HP:0000612Iris coloboma0ERF CL E G H2077207EchinococcosisORPHA01113444611888
HP:0000612HP:0000612Iris coloboma0ERF CL E G H2077207EchinococcosisORPHA01203444611888
HP:0000612HP:0000612Iris coloboma0FGF3 CL E G H22482791ORPHA0723681164950
HP:0000612HP:0000612Iris coloboma0FGF3 CL E G H22482791ORPHA0613681164950
HP:0000612HP:0000612Iris coloboma0FGF8 CL E G H2253280200ORPHA0693686600483
HP:0000612HP:0000612Iris coloboma0FGF8 CL E G H2253280200ORPHA0663686600483
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H2260280200ORPHA05973688136350
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H2260280200ORPHA05303688136350
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM05973688136350
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM05303688136350
HP:0000612HP:0000612Iris coloboma0FGFR2 CL E G H2263207EchinococcosisORPHA05013689176943
HP:0000612HP:0000612Iris coloboma0FGFR2 CL E G H2263207EchinococcosisORPHA04663689176943
HP:0000612HP:0000612Iris coloboma0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM02673693605830
HP:0000612HP:0000612Iris coloboma0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM02143693605830
HP:0000612HP:0000612Iris coloboma0FKRP CL E G H79147899ORPHA067117997606596
HP:0000612HP:0000612Iris coloboma0FKRP CL E G H79147899ORPHA057217997606596
HP:0000612HP:0000612Iris coloboma0FKTN CL E G H2218899ORPHA05993622607440
HP:0000612HP:0000612Iris coloboma0FKTN CL E G H2218899ORPHA06793622607440
HP:0000612HP:0000612Iris coloboma0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA01743749193067
HP:0000612HP:0000612Iris coloboma0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA01723749193067
HP:0000612HP:0000612Iris coloboma0FOXH1 CL E G H8928280200ORPHA02203814603621
HP:0000612HP:0000612Iris coloboma0FOXH1 CL E G H8928280200ORPHA02063814603621
HP:0000612HP:0000612Iris coloboma0GAS1 CL E G H2619280200ORPHA0584165139185
HP:0000612HP:0000612Iris coloboma0GAS1 CL E G H2619280200ORPHA0524165139185
HP:0000612HP:0000612Iris coloboma0GJA8 CL E G H27031377ORPHA03764281600897
HP:0000612HP:0000612Iris coloboma0GJA8 CL E G H27031377ORPHA03914281600897
HP:0000612HP:0000612Iris coloboma0GLI2 CL E G H2736280200ORPHA05184318165230
HP:0000612HP:0000612Iris coloboma0GLI2 CL E G H2736280200ORPHA04694318165230
HP:0000612HP:0000612Iris coloboma0GMPPA CL E G H29926869ORPHA09822923615495
HP:0000612HP:0000612Iris coloboma0GMPPA CL E G H29926869ORPHA010722923615495
HP:0000612HP:0000612Iris coloboma0GNAQ CL E G H27763205LBWD syndromeORPHA0744390600998
HP:0000612HP:0000612Iris coloboma0GNAQ CL E G H27763205LBWD syndromeORPHA0754390600998
HP:0000612HP:0000612Iris coloboma0GZF1 CL E G H64412617662JOINT LAXITY, SHORT STATURE, AND MYOPIA617662C4540020OMIM09615808613842
HP:0000612HP:0000612Iris coloboma0GZF1 CL E G H64412617662JOINT LAXITY, SHORT STATURE, AND MYOPIA617662C4540020OMIM04715808613842
HP:0000612HP:0000612Iris coloboma0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA019926558610693
HP:0000612HP:0000612Iris coloboma0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA017726558610693
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H56623220493ORPHA055921474613037
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H56623220493ORPHA046621474613037
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA046621474613037
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA055921474613037
HP:0000612HP:0000612Iris coloboma0ISPD CL E G H729920899ORPHA054937276614631
HP:0000612HP:0000612Iris coloboma0ISPD CL E G H729920899ORPHA054537276614631
HP:0000612HP:0000612Iris coloboma0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM06818249613420
HP:0000612HP:0000612Iris coloboma0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM06418249613420
HP:0000612HP:0000612Iris coloboma0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0000612HP:0000612Iris coloboma0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA066219960610178
HP:0000612HP:0000612Iris coloboma0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA033819960610178
HP:0000612HP:0000612Iris coloboma0LARGE1 CL E G H9215899ORPHA05976511603590
HP:0000612HP:0000612Iris coloboma0LARGE1 CL E G H9215899ORPHA05166511603590
HP:0000612HP:0000612Iris coloboma0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM02286556604407
HP:0000612HP:0000612Iris coloboma0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM01886556604407
HP:0000612HP:0000612Iris coloboma0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM016276694600073
HP:0000612HP:0000612Iris coloboma0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM09666694600073
HP:0000612HP:0000612Iris coloboma0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA016276694600073
HP:0000612HP:0000612Iris coloboma0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA09666694600073
HP:0000612HP:0000612Iris coloboma0MAF CL E G H40941377ORPHA02786776177075
HP:0000612HP:0000612Iris coloboma0MAF CL E G H40941377ORPHA02476776177075
HP:0000612HP:0000612Iris coloboma0MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000612HP:0000612Iris coloboma0MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H54903220493ORPHA05537121609883
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H54903220493ORPHA04777121609883
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA05537121609883
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA04777121609883
HP:0000612HP:0000612Iris coloboma0NODAL CL E G H4838280200ORPHA01257865601265
HP:0000612HP:0000612Iris coloboma0NODAL CL E G H4838280200ORPHA01187865601265
HP:0000612HP:0000612Iris coloboma0NOTCH2 CL E G H4853955ORPHA06277882600275
HP:0000612HP:0000612Iris coloboma0NOTCH2 CL E G H4853955ORPHA05267882600275
HP:0000612HP:0000612Iris coloboma0NOTCH3 CL E G H48542789ORPHA08607883600276
HP:0000612HP:0000612Iris coloboma0NOTCH3 CL E G H48542789ORPHA09467883600276
HP:0000612HP:0000612Iris coloboma0NPHP1 CL E G H4867220497ORPHA06267905607100
HP:0000612HP:0000612Iris coloboma0NPHP1 CL E G H4867220497ORPHA05327905607100
HP:0000612HP:0000612Iris coloboma0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM026212766602952
HP:0000612HP:0000612Iris coloboma0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM024912766602952
HP:0000612HP:0000612Iris coloboma0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA010423352607532
HP:0000612HP:0000612Iris coloboma0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA09623352607532
HP:0000612HP:0000612Iris coloboma0PNPLA6 CL E G H109082377ORPHA080816268603197
HP:0000612HP:0000612Iris coloboma0PNPLA6 CL E G H109082377ORPHA066916268603197
HP:0000612HP:0000612Iris coloboma0POMGNT1 CL E G H55624899ORPHA066219139606822
HP:0000612HP:0000612Iris coloboma0POMGNT1 CL E G H55624899ORPHA079719139606822
HP:0000612HP:0000612Iris coloboma0POMGNT2 CL E G H84892899ORPHA032225902614828
HP:0000612HP:0000612Iris coloboma0POMGNT2 CL E G H84892899ORPHA026725902614828
HP:0000612HP:0000612Iris coloboma0POMK CL E G H84197899ORPHA019226267615247
HP:0000612HP:0000612Iris coloboma0POMK CL E G H84197899ORPHA022426267615247
HP:0000612HP:0000612Iris coloboma0POMT1 CL E G H10585899ORPHA06869202607423
HP:0000612HP:0000612Iris coloboma0POMT1 CL E G H10585899ORPHA06099202607423
HP:0000612HP:0000612Iris coloboma0POMT2 CL E G H29954899ORPHA060419743607439
HP:0000612HP:0000612Iris coloboma0POMT2 CL E G H29954899ORPHA069119743607439
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727377ORPHA026289585601309
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727280200ORPHA029889585601309
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727377ORPHA029889585601309
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727280200ORPHA026289585601309
HP:0000612HP:0000612Iris coloboma0PTCH2 CL E G H8643377ORPHA05419586603673
HP:0000612HP:0000612Iris coloboma0PTCH2 CL E G H8643377ORPHA04269586603673
HP:0000612HP:0000612Iris coloboma0RPGRIP1L CL E G H23322220497ORPHA096429168610937
HP:0000612HP:0000612Iris coloboma0RPGRIP1L CL E G H23322220497ORPHA079429168610937
HP:0000612HP:0000612Iris coloboma0RXYLT1 CL E G H10329899ORPHA019413530605862
HP:0000612HP:0000612Iris coloboma0RXYLT1 CL E G H10329899ORPHA015913530605862
HP:0000612HP:0000612Iris coloboma0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA027010524602218
HP:0000612HP:0000612Iris coloboma0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA025110524602218
HP:0000612HP:0000612Iris coloboma0SALL4 CL E G H57167959ORPHA017815924607343
HP:0000612HP:0000612Iris coloboma0SALL4 CL E G H57167959ORPHA019815924607343
HP:0000612HP:0000612Iris coloboma0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM034010727608166
HP:0000612HP:0000612Iris coloboma0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM039810727608166
HP:0000612HP:0000612Iris coloboma0SHH CL E G H6469280200ORPHA028310848600725
HP:0000612HP:0000612Iris coloboma0SHH CL E G H6469280200ORPHA024510848600725
HP:0000612HP:0000612Iris coloboma0SIX3 CL E G H6496280200ORPHA011810889603714
HP:0000612HP:0000612Iris coloboma0SIX3 CL E G H6496280200ORPHA010410889603714
HP:0000612HP:0000612Iris coloboma0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM06210892606326
HP:0000612HP:0000612Iris coloboma0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM06910892606326
HP:0000612HP:0000612Iris coloboma0SMO CL E G H66081553ORPHA011811119601500
HP:0000612HP:0000612Iris coloboma0SMO CL E G H66081553ORPHA011611119601500
HP:0000612HP:0000612Iris coloboma0SOX2 CL E G H665777298ORPHA016011195184429
HP:0000612HP:0000612Iris coloboma0SOX2 CL E G H665777298ORPHA015511195184429
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H51684280200ORPHA081516466607035
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H51684377ORPHA070316466607035
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H51684280200ORPHA070316466607035
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H51684377ORPHA081516466607035
HP:0000612HP:0000612Iris coloboma0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA024226113609863
HP:0000612HP:0000612Iris coloboma0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA016326113609863
HP:0000612HP:0000612Iris coloboma0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA039025774613846
HP:0000612HP:0000612Iris coloboma0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA028125774613846
HP:0000612HP:0000612Iris coloboma0TDGF1 CL E G H6997280200ORPHA04211701187395
HP:0000612HP:0000612Iris coloboma0TGIF1 CL E G H7050280200ORPHA021011776602630
HP:0000612HP:0000612Iris coloboma0TGIF1 CL E G H7050280200ORPHA019711776602630
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H65062220497ORPHA035914432614423
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H65062220497ORPHA030114432614423
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA035914432614423
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA030114432614423
HP:0000612HP:0000612Iris coloboma0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA056928396609884
HP:0000612HP:0000612Iris coloboma0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA040228396609884
HP:0000612HP:0000612Iris coloboma0TRAPPC11 CL E G H60684869ORPHA067325751614138
HP:0000612HP:0000612Iris coloboma0TRAPPC11 CL E G H60684869ORPHA057325751614138
HP:0000612HP:0000612Iris coloboma0TSC1 CL E G H7248805ORPHA0318512362605284
HP:0000612HP:0000612Iris coloboma0TSC1 CL E G H7248805ORPHA0285712362605284
HP:0000612HP:0000612Iris coloboma0TSC2 CL E G H7249805ORPHA0731612363191092
HP:0000612HP:0000612Iris coloboma0TSC2 CL E G H7249805ORPHA0662912363191092
HP:0000612HP:0000612Iris coloboma0VPS13B CL E G H157680193ORPHA031822183607817
HP:0000612HP:0000612Iris coloboma0VPS13B CL E G H157680193ORPHA026112183607817
HP:0000612HP:0000612Iris coloboma0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA045728984610657
HP:0000612HP:0000612Iris coloboma0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA049328984610657
HP:0000612HP:0000612Iris coloboma0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000612HP:0000612Iris coloboma0ZIC2 CL E G H7546280200ORPHA018312873603073
HP:0000612HP:0000612Iris coloboma0ZIC2 CL E G H7546280200ORPHA023312873603073


Genes (149) :AAAS ACTB ACTG1 AHI1 ALG2 ALG3 ALX3 ANK1 ARL13B ARL3 ARMC9 ATOH7 ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 BCOR BMP4 C12ORF57 C12orf57 CC2D2A CCDC22 CDON CENPF CEP104 CEP120 CEP290 CEP41 CHD7 CHN1 COL25A1 COL4A1 COX7B CPLANE1 CPLX1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 DACT1 DAG1 DHCR7 DISP1 DLL1 ERF FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FKRP FKTN FLI1 FLNA FOXH1 GAS1 GDF3 GJA8 GLI2 GMPPA GNAQ GZF1 HCCS HRAS HYLS1 IGBP1 INPP5E KCTD1 KIAA0556 KIAA0586 KIF1BP KRAS LARGE1 LETM1 LRP2 MAF MAFB MBTPS2 MKS1 MPDZ NAA10 NDUFB11 NELFA NODAL NOTCH2 NOTCH3 NPHP1 NRAS NSD2 PIBF1 PNPLA6 POGZ POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PTCH1 PTCH2 RB1 RBP4 RPGRIP1L RSPO2 RXYLT1 SALL1 SALL4 SEMA3E SHH SIN3A SIX3 SIX6 SMCHD1 SMO SOX2 SRD5A3 SUFU TBX22 TCOF1 TCTN1 TCTN2 TDGF1 TENM3 TFAP2A TGIF1 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRAPPC11 TSC1 TSC2 VPS13B WASHC5 WHCR WNT3 YAP1 ZEB2 ZIC2 ZNF423

Diseases (87) :869 243310 2995 220493 475 79326 601110 391474 251066 221900 618012 899 709 261540 568 2712 309800 139471 1777 218340 2318 1454 7 280200 243605 138 214800 233 309801 194190 1377 604219 857 818 207 2791 2396 147950 2308 300244 613702 3205 617662 2612 52055 300472 181270 66629 280 222448 2143 610202 85284 249000 615219 955 2789 220497 2377 616364 861 2092 305600 377 109400 610828 1587 616428 615147 3301 959 607323 611638 613406 212550 2250 1553 77298 612713 921 615145 1297 113620 805 193 1473 235730
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.