Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the orbital region (HP:0000315)help
Parent Node:
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Abnormality iris morphology (HP:0000525)help
Parent Node:
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Coloboma (HP:0000589)help
..Starting node
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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 nerve 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 1243310C1855722OMIM165224132102630
HP:0000612HP:0000612Iris coloboma0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000612HP:0000612Iris coloboma0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000612HP:0000612Iris coloboma0ALG2 CL E G H8536579326ORPHA1515323159607905
HP:0000612HP:0000612Iris coloboma0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0000612HP:0000612Iris coloboma0ALX3 CL E G H257391474ORPHA1835449606014
HP:0000612HP:0000612Iris coloboma0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0000612HP:0000612Iris coloboma0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000612HP:0000612Iris coloboma0BMP4 CL E G H652139471ORPHA148891071112262
HP:0000612HP:0000612Iris coloboma0C12orf57 CL E G H1132461777ORPHA1812529521615140
HP:0000612HP:0000612Iris coloboma0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0000612HP:0000612Iris coloboma0CC2D2A CL E G H575452318ORPHA19658429253612013
HP:0000612HP:0000612Iris coloboma0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0000612HP:0000612Iris coloboma0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181431857600236
HP:0000612HP:0000612Iris coloboma0CEP290 CL E G H801842318ORPHA131088429021610142
HP:0000612HP:0000612Iris coloboma0CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0000612HP:0000612Iris coloboma0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0000612HP:0000612Iris coloboma0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127114723754300017
HP:0000612HP:0000612Iris coloboma0GDF3 CL E G H9573613702Klippel-Feil syndrome 3, autosomal dominant613702C3150967OMIM16664218606522
HP:0000612HP:0000612Iris coloboma0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0000612HP:0000612Iris coloboma0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1342955173190020
HP:0000612HP:0000612Iris coloboma0IGBP1 CL E G H347652055ORPHA121425461300139
HP:0000612HP:0000612Iris coloboma0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0000612HP:0000612Iris coloboma0KIF1BP CL E G H2612866629ORPHA11023419609367
HP:0000612HP:0000612Iris coloboma0KRAS CL E G H38452396ORPHA1452746407190070
HP:0000612HP:0000612Iris coloboma0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1452746407190070
HP:0000612HP:0000612Iris coloboma0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0000612HP:0000612Iris coloboma0MAF CL E G H4094610202Cataract 21, multiple types610202C3888097OMIM1221726776177075
HP:0000612HP:0000612Iris coloboma0MBTPS2 CL E G H5136085284ORPHA12620715455300294
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0000612HP:0000612Iris coloboma0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM1242467208603785
HP:0000612HP:0000612Iris coloboma0NAA10 CL E G H8260568Aggressive fibromatosisORPHA11029618704300013
HP:0000612HP:0000612Iris coloboma0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000612HP:0000612Iris coloboma0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0000612HP:0000612Iris coloboma0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0000612HP:0000612Iris coloboma0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1141817989164790
HP:0000612HP:0000612Iris coloboma0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0000612HP:0000612Iris coloboma0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000612HP:0000612Iris coloboma0POLR1C CL E G H9533861ORPHA1219220194610060
HP:0000612HP:0000612Iris coloboma0POLR1D CL E G H51082861ORPHA1264820422613715
HP:0000612HP:0000612Iris coloboma0PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0000612HP:0000612Iris coloboma0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM152920319585601309
HP:0000612HP:0000612Iris coloboma0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0000612HP:0000612Iris coloboma0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0000612HP:0000612Iris coloboma0RBP4 CL E G H5950616428Microphthalmia, isolated, with coloboma 10616428C4225330OMIM18479922180250
HP:0000612HP:0000612Iris coloboma0RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM18479922180250
HP:0000612HP:0000612Iris coloboma0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15143229168610937
HP:0000612HP:0000612Iris coloboma0RSPO2 CL E G H3404193301Lowry syndromeORPHA124128583610575
HP:0000612HP:0000612Iris coloboma0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM15714815924607343
HP:0000612HP:0000612Iris coloboma0SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0000612HP:0000612Iris coloboma0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122121010848600725
HP:0000612HP:0000612Iris coloboma0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000612HP:0000612Iris coloboma0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA112550029090614982
HP:0000612HP:0000612Iris coloboma0SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM11613925812611715
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0000612HP:0000612Iris coloboma0TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA13018811600300307
HP:0000612HP:0000612Iris coloboma0TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0000612HP:0000612Iris coloboma0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317829944610083
HP:0000612HP:0000612Iris coloboma0TFAP2A CL E G H70201297ORPHA1448211742107580
HP:0000612HP:0000612Iris coloboma0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000612HP:0000612Iris coloboma0TMEM138 CL E G H515242318ORPHA196726944614459
HP:0000612HP:0000612Iris coloboma0TMEM216 CL E G H512592318ORPHA1810925018613277
HP:0000612HP:0000612Iris coloboma0TMEM231 CL E G H795832318ORPHA11915037234614949
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H650622318ORPHA11122114432614423
HP:0000612HP:0000612Iris coloboma0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117431628396609884
HP:0000612HP:0000612Iris coloboma0WNT3 CL E G H74733301Lowry syndromeORPHA122212782165330
HP:0000612HP:0000612Iris coloboma0YAP1 CL E G H104131473Congenital articular rigidityORPHA1123816262606608
HP:0000612HP:0000612Iris coloboma0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129861314881605802
HP:0000612HP:0000612Iris coloboma0ZNF423 CL E G H230902318ORPHA1925216762604557
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000612HP:0000612Iris coloboma0AAAS CL E G H8086869ORPHA0799913666605378
HP:0000612HP:0000612Iris coloboma0AHI1 CL E G H54806220493ORPHA09642221575608894
HP:0000612HP:0000612Iris coloboma0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA09642221575608894
HP:0000612HP:0000612Iris coloboma0ANK1 CL E G H286251066ORPHA0111388492612641
HP:0000612HP:0000612Iris coloboma0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA01012025419608922
HP:0000612HP:0000612Iris coloboma0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0333694604695
HP:0000612HP:0000612Iris coloboma0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA01110520730617612
HP:0000612HP:0000612Iris coloboma0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM094113907609875
HP:0000612HP:0000612Iris coloboma0B3GALNT2 CL E G H148789899ORPHA01622128596610194
HP:0000612HP:0000612Iris coloboma0B3GLCT CL E G H145173709ORPHA01518120207610308
HP:0000612HP:0000612Iris coloboma0B4GAT1 CL E G H11041899ORPHA078415685605517
HP:0000612HP:0000612Iris coloboma0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA01015824123614144
HP:0000612HP:0000612Iris coloboma0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA05541520893300485
HP:0000612HP:0000612Iris coloboma0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0722128909300859
HP:0000612HP:0000612Iris coloboma0CDON CL E G H50937280200ORPHA01339117104608707
HP:0000612HP:0000612Iris coloboma0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA0715224866616690
HP:0000612HP:0000612Iris coloboma0CEP120 CL E G H153241220493ORPHA098726690613446
HP:0000612HP:0000612Iris coloboma0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA098726690613446
HP:0000612HP:0000612Iris coloboma0CEP41 CL E G H95681220493ORPHA01123212370610523
HP:0000612HP:0000612Iris coloboma0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA01123212370610523
HP:0000612HP:0000612Iris coloboma0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM0884126620626608892
HP:0000612HP:0000612Iris coloboma0CHN1 CL E G H1123233D ercole syndromeORPHA0111111943118423
HP:0000612HP:0000612Iris coloboma0COL25A1 CL E G H84570233D ercole syndromeORPHA044118603610004
HP:0000612HP:0000612Iris coloboma0COL4A1 CL E G H1282899ORPHA01144982202120130
HP:0000612HP:0000612Iris coloboma0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA011859425801614571
HP:0000612HP:0000612Iris coloboma0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM031432309605032
HP:0000612HP:0000612Iris coloboma0CRYAA CL E G H14091377ORPHA0271292388123580
HP:0000612HP:0000612Iris coloboma0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM0271292388123580
HP:0000612HP:0000612Iris coloboma0CRYBA4 CL E G H14131377ORPHA010842396123631
HP:0000612HP:0000612Iris coloboma0CRYBB1 CL E G H14141377ORPHA020652397600929
HP:0000612HP:0000612Iris coloboma0CRYBB2 CL E G H14151377ORPHA027532398123620
HP:0000612HP:0000612Iris coloboma0CRYGC CL E G H14201377ORPHA028502410123680
HP:0000612HP:0000612Iris coloboma0CRYGD CL E G H14211377ORPHA027732411123690
HP:0000612HP:0000612Iris coloboma0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA02725726193611654
HP:0000612HP:0000612Iris coloboma0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM011642494602618
HP:0000612HP:0000612Iris coloboma0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085017748607861
HP:0000612HP:0000612Iris coloboma0DAG1 CL E G H1605899ORPHA0113012666128239
HP:0000612HP:0000612Iris coloboma0DHCR7 CL E G H1717818ORPHA02183762860602858
HP:0000612HP:0000612Iris coloboma0DISP1 CL E G H84976280200ORPHA01110019711607502
HP:0000612HP:0000612Iris coloboma0DLL1 CL E G H28514280200ORPHA0191322908606582
HP:0000612HP:0000612Iris coloboma0ERF CL E G H2077207EchinococcosisORPHA019753444611888
HP:0000612HP:0000612Iris coloboma0FGF3 CL E G H22482791ORPHA020353681164950
HP:0000612HP:0000612Iris coloboma0FGF8 CL E G H2253280200ORPHA041543686600483
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H2260280200ORPHA02653883688136350
HP:0000612HP:0000612Iris coloboma0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM02653883688136350
HP:0000612HP:0000612Iris coloboma0FGFR2 CL E G H2263207EchinococcosisORPHA01593363689176943
HP:0000612HP:0000612Iris coloboma0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM071993693605830
HP:0000612HP:0000612Iris coloboma0FKRP CL E G H79147899ORPHA014140217997606596
HP:0000612HP:0000612Iris coloboma0FKTN CL E G H2218899ORPHA0594503622607440
HP:0000612HP:0000612Iris coloboma0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA071253749193067
HP:0000612HP:0000612Iris coloboma0FOXH1 CL E G H8928280200ORPHA0331883814603621
HP:0000612HP:0000612Iris coloboma0GAS1 CL E G H2619280200ORPHA06424165139185
HP:0000612HP:0000612Iris coloboma0GJA8 CL E G H27031377ORPHA0633474281600897
HP:0000612HP:0000612Iris coloboma0GLI2 CL E G H2736280200ORPHA0883724318165230
HP:0000612HP:0000612Iris coloboma0GMPPA CL E G H29926869ORPHA0127422923615495
HP:0000612HP:0000612Iris coloboma0GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000612HP:0000612Iris coloboma0GZF1 CL E G H64412617662JOINT LAXITY, SHORT STATURE, AND MYOPIA617662C4540020OMIM022515808613842
HP:0000612HP:0000612Iris coloboma0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA0212226558610693
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H56623220493ORPHA05432521474613037
HP:0000612HP:0000612Iris coloboma0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA05432521474613037
HP:0000612HP:0000612Iris coloboma0ISPD CL E G H729920899ORPHA047537276614631
HP:0000612HP:0000612Iris coloboma0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM0114918249613420
HP:0000612HP:0000612Iris coloboma0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA0229068616650
HP:0000612HP:0000612Iris coloboma0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA03115519960610178
HP:0000612HP:0000612Iris coloboma0LARGE1 CL E G H9215899ORPHA0284066511603590
HP:0000612HP:0000612Iris coloboma0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM041756556604407
HP:0000612HP:0000612Iris coloboma0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM0466006694600073
HP:0000612HP:0000612Iris coloboma0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA0466006694600073
HP:0000612HP:0000612Iris coloboma0MAF CL E G H40941377ORPHA0221726776177075
HP:0000612HP:0000612Iris coloboma0MAFB CL E G H9935233D ercole syndromeORPHA0251056408608968
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H54903220493ORPHA0523347121609883
HP:0000612HP:0000612Iris coloboma0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA0523347121609883
HP:0000612HP:0000612Iris coloboma0NODAL CL E G H4838280200ORPHA0251017865601265
HP:0000612HP:0000612Iris coloboma0NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000612HP:0000612Iris coloboma0NOTCH3 CL E G H48542789ORPHA03795917883600276
HP:0000612HP:0000612Iris coloboma0NPHP1 CL E G H4867220497ORPHA0794037905607100
HP:0000612HP:0000612Iris coloboma0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM01422012766602952
HP:0000612HP:0000612Iris coloboma0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA088723352607532
HP:0000612HP:0000612Iris coloboma0PNPLA6 CL E G H109082377ORPHA06137916268603197
HP:0000612HP:0000612Iris coloboma0POMGNT1 CL E G H55624899ORPHA08946119139606822
HP:0000612HP:0000612Iris coloboma0POMGNT2 CL E G H84892899ORPHA0919125902614828
HP:0000612HP:0000612Iris coloboma0POMK CL E G H84197899ORPHA0814826267615247
HP:0000612HP:0000612Iris coloboma0POMT1 CL E G H10585899ORPHA0965089202607423
HP:0000612HP:0000612Iris coloboma0POMT2 CL E G H29954899ORPHA07550219743607439
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727377ORPHA052920319585601309
HP:0000612HP:0000612Iris coloboma0PTCH1 CL E G H5727280200ORPHA052920319585601309
HP:0000612HP:0000612Iris coloboma0PTCH2 CL E G H8643377ORPHA0112819586603673
HP:0000612HP:0000612Iris coloboma0RPGRIP1L CL E G H23322220497ORPHA05143229168610937
HP:0000612HP:0000612Iris coloboma0RXYLT1 CL E G H10329899ORPHA0810613530605862
HP:0000612HP:0000612Iris coloboma0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08818210524602218
HP:0000612HP:0000612Iris coloboma0SALL4 CL E G H57167959ORPHA05714815924607343
HP:0000612HP:0000612Iris coloboma0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM0416010727608166
HP:0000612HP:0000612Iris coloboma0SHH CL E G H6469280200ORPHA022121010848600725
HP:0000612HP:0000612Iris coloboma0SIX3 CL E G H6496280200ORPHA0919010889603714
HP:0000612HP:0000612Iris coloboma0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM0115910892606326
HP:0000612HP:0000612Iris coloboma0SMO CL E G H66081553ORPHA077111119601500
HP:0000612HP:0000612Iris coloboma0SOX2 CL E G H665777298ORPHA010510511195184429
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H51684280200ORPHA04753316466607035
HP:0000612HP:0000612Iris coloboma0SUFU CL E G H51684377ORPHA04753316466607035
HP:0000612HP:0000612Iris coloboma0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA0611626113609863
HP:0000612HP:0000612Iris coloboma0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA01520325774613846
HP:0000612HP:0000612Iris coloboma0TDGF1 CL E G H6997280200ORPHA061411701187395
HP:0000612HP:0000612Iris coloboma0TGIF1 CL E G H7050280200ORPHA02817011776602630
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H65062220497ORPHA01122114432614423
HP:0000612HP:0000612Iris coloboma0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA01122114432614423
HP:0000612HP:0000612Iris coloboma0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA017431628396609884
HP:0000612HP:0000612Iris coloboma0TRAPPC11 CL E G H60684869ORPHA01735125751614138
HP:0000612HP:0000612Iris coloboma0TSC1 CL E G H7248805ORPHA0404235112362605284
HP:0000612HP:0000612Iris coloboma0TSC2 CL E G H7249805ORPHA01269558112363191092
HP:0000612HP:0000612Iris coloboma0VPS13B CL E G H157680193ORPHA021316062183607817
HP:0000612HP:0000612Iris coloboma0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA02026828984610657
HP:0000612HP:0000612Iris coloboma0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000612HP:0000612Iris coloboma0ZIC2 CL E G H7546280200ORPHA012315412873603073


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 June 2019 release.