Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000589 | HP:0000589 | Coloboma | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:614497 | Microphthalmia, isolated, with coloboma 7 | . | | | 20 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | | | | 123 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | | | | 175 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 175 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ALDH1A3 CL E G H | 220 | 409 | OMIM:615113 | Microphthalmia, isolated 8 | HP:0040283 - Occasional | | | 10 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | | | | 46 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | . | | | 46 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | | | | 37 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | | | | 9 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | | | | 150 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | | | | 62 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | | | | 3 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | | | | 43 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | | | | 17 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | | | | 28 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | | | | 34 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | | | | 101 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | | | | 38 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | | | | 13 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | | | | 13 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CAPN15 CL E G H | 6650 | 11182 | OMIM:619318 | OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | | | | 118 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 247 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | | | | 5 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | | | | 7 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 7 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 342 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | | | | 90 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 90 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | | | | 42 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | | | | 42 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | | | | 193 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040284 - Very rare | | | 291 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040284 - Very rare | | | 291 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | | | | 33 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CRYAA CL E G H | 1409 | 2388 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 33 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CRYBA4 CL E G H | 1413 | 2396 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 10 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CRYBB1 CL E G H | 1414 | 2397 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 18 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CRYBB2 CL E G H | 1415 | 2398 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 13 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CRYGC CL E G H | 1420 | 2410 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 11 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CRYGD CL E G H | 1421 | 2411 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 29 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | | | | 57 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | | | | 108 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DHX38 CL E G H | 9785 | 17211 | OMIM:618220 | Retinitis pigmentosa 84 | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DPYD CL E G H | 1806 | 3012 | OMIM:274270 | Dihydropyrimidine dehydrogenase deficiency | . | | | 144 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | EIF3F CL E G H | 8665 | 3275 | OMIM:618295 | Intellectual developmental disorder, autosomal recessive 67 | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ELP4 CL E G H | 26610 | 1171 | OMIM:617141 | Aniridia 2 | | | | 4 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040284 - Very rare | | | 250 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | | | | 170 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | | | | 12 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | | | | 18 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | | | | 175 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | | | | 157 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | | | | 184 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300244 | Terminal osseous dysplasia | | | | 493 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:88630 | Terminal osseous dysplasia-pigmentary defects syndrome | | | | 493 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | . | | | 23 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613702 | Klippel-Feil syndrome 3, autosomal dominant | | | | 7 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 7 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:613094 | MICROPHTHALMIA, ISOLATED 4; MCOP4 | | | | 64 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 64 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GJA8 CL E G H | 2703 | 4281 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 34 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | | | | 7 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HMGB3 CL E G H | 3149 | 5004 | OMIM:300915 | Microphthalmia, syndromic 13 | . | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | . | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 113 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | | | | 31 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | | | | 5 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | | | | 111 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 111 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | | | | 24 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616490 | Joubert syndrome 23 | HP:0040283 - Occasional | | | 24 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | | | | 24 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 196 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 196 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | | | | 136 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | . | | | 5 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | | | | 21 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 21 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | | | | 22 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MIR204 CL E G H | 406987 | 31582 | OMIM:616722 | Retinal dystrophy and iris coloboma with or without congenital cataract | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MITF CL E G H | 4286 | 7105 | OMIM:617306 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | . | | | 91 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | | | | 127 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 127 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 64 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | MPDZ CL E G H | 8777 | 7208 | OMIM:615219 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | | | | 29 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | | | | 144 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 85 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 102 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | . | | | 41 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:1475 | Renal coloboma syndrome | | | | 39 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | HP:0040283 - Occasional | | | 194 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:120430 | Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included | | | | 194 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:120200 | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | | | | 194 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:137902 | Isolated optic nerve hypoplasia/aplasia | | | | 194 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:35737 | Morning glory disc anomaly | | | | 194 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | | | | 4 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | | | | 36 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | | | | 103 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | | | | 180 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | | | | 33 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | . | | | 18 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | | | | 18 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | | | | 213 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | | | | 221 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | | | | 665 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | | | | 40 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | . | | | 19 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | | | | 85 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | | | | 90 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | | | | 135 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | | | | 365 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:616428 | Microphthalmia, isolated, with coloboma 10 | | | | 8 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:615147 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | | | | 8 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | | | | 16 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ROR1 CL E G H | 4919 | 10256 | OMIM:617654 | Deafness, autosomal recessive 108 | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 167 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SALL2 CL E G H | 6297 | 10526 | OMIM:216820 | COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | | | | 67 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | | | | 20 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | | | | 174 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | . | | | 22 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | | | | 22 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | | | | 33 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:600251 | Facial clefting, oblique, 1 | HP:0040283 - Occasional | | | 6 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SPINT2 CL E G H | 10653 | 11247 | OMIM:270420 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | | | | 6 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | | | | 80 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040282 - Frequent | | | 80 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | | | | 124 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | | | | 124 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | | | | 15 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TBX22 CL E G H | 50945 | 11600 | OMIM:302905 | Charge-Like syndrome, X-linked | . | | | 28 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | | | | 45 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | | | | 76 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | | | | 12 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM138 CL E G H | 51524 | 26944 | OMIM:614465 | JOUBERT SYNDROME 16; JBTS16 | | | | 39 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 39 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 45 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 33 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | | | | 82 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 82 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 82 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | | | | 166 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | | | | 166 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | VSX2 CL E G H | 338917 | 1975 | OMIM:610092 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 | | | | 66 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | | | | 20 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | YAP1 CL E G H | 10413 | 16262 | OMIM:120433 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | . | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | | | | 2 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0000589 | HP:0000589 | Coloboma | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 49 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 175 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 175 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | ALDH1A3 CL E G H | 220 | 409 | OMIM:615113 | Microphthalmia, isolated 8 | | | | 10 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | HP:0040283 - Occasional | | | 4 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0000589 | HP:0020006 | Ciliary body coloboma | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040282 - Frequent | | | 38 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040282 - Frequent | | | 38 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040283 - Occasional | | | 118 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 7 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 7 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 342 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 342 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 90 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 90 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | HP:0040281 - Very frequent | | | 42 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | | | | 42 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | | | | 42 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 6 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | HP:0040283 - Occasional | | | 33 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CRYAA CL E G H | 1409 | 2388 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CRYBA4 CL E G H | 1413 | 2396 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CRYBB1 CL E G H | 1414 | 2397 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CRYBB2 CL E G H | 1415 | 2398 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CRYGC CL E G H | 1420 | 2410 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CRYGD CL E G H | 1421 | 2411 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 108 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | DHX38 CL E G H | 9785 | 17211 | OMIM:618220 | Retinitis pigmentosa 84 | | | | 1 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040284 - Very rare | | | 134 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ELP4 CL E G H | 26610 | 1171 | OMIM:617141 | Aniridia 2 | | | | 4 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040284 - Very rare | | | 170 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | HP:0040283 - Occasional | | | 12 | | |
HP:0000589 | HP:0100719 | Lens coloboma | 1 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0000589 | HP:0100719 | Lens coloboma | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | HP:0040283 - Occasional | | | 172 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | HP:0040283 - Occasional | | | 175 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 157 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 184 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:300244 | Terminal osseous dysplasia | . | | | 493 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:88630 | Terminal osseous dysplasia-pigmentary defects syndrome | | | | 493 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | GDF3 CL E G H | 9573 | 4218 | OMIM:613702 | Klippel-Feil syndrome 3, autosomal dominant | | | | 7 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | GDF3 CL E G H | 9573 | 4218 | OMIM:613702 | Klippel-Feil syndrome 3, autosomal dominant | | | | 7 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | GJA8 CL E G H | 2703 | 4281 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | HP:0040284 - Very rare | | | | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | HP:0040284 - Very rare | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 11 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | HP:0040282 - Frequent | | | | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 111 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 111 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 111 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 111 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 111 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | HP:0040282 - Frequent | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 136 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | . | | | 21 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1377 | Cataract-microcornea syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MIR204 CL E G H | 406987 | 31582 | OMIM:616722 | Retinal dystrophy and iris coloboma with or without congenital cataract | | | | 1 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 127 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 127 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | MPDZ CL E G H | 8777 | 7208 | OMIM:615219 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | . | | | 29 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0000589 | HP:0020006 | Ciliary body coloboma | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 3 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 85 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | . | | | 39 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:1475 | Renal coloboma syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:1475 | Renal coloboma syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:120430 | Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included | | | | 194 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:120200 | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | | | | 194 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:120200 | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | | | | 194 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:137902 | Isolated optic nerve hypoplasia/aplasia | HP:0040282 - Frequent | | | 194 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:35737 | Morning glory disc anomaly | HP:0040283 - Occasional | | | 194 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040284 - Very rare | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | HP:0040283 - Occasional | | | 103 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 180 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 213 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 221 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040282 - Frequent | | | 20 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040282 - Frequent | | | 20 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000589 | HP:0100719 | Lens coloboma | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 665 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 85 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040282 - Frequent | | | 365 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | RBP4 CL E G H | 5950 | 9922 | OMIM:616428 | Microphthalmia, isolated, with coloboma 10 | . | | | 8 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | RBP4 CL E G H | 5950 | 9922 | OMIM:616428 | Microphthalmia, isolated, with coloboma 10 | . | | | 8 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | RBP4 CL E G H | 5950 | 9922 | OMIM:615147 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | . | | | 8 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ROR1 CL E G H | 4919 | 10256 | OMIM:617654 | Deafness, autosomal recessive 108 | | | | 1 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 167 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 167 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 167 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 167 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | SALL2 CL E G H | 6297 | 10526 | OMIM:216820 | COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | | | | 1 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | SALL2 CL E G H | 6297 | 10526 | OMIM:216820 | COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | | | | 1 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SALL2 CL E G H | 6297 | 10526 | OMIM:216820 | COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | | | | 1 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | | | | 67 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | | | | 67 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | HP:0040283 - Occasional | | | 20 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | HP:0040283 - Occasional | | | 20 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 174 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | SPINT2 CL E G H | 10653 | 11247 | OMIM:270420 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | | | | 6 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | . | | | 80 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | . | | | 12 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 39 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 39 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 45 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 45 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 33 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 33 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 82 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 82 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 166 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 166 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 166 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0000589 | HP:0000588 | Optic disc coloboma | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040283 - Occasional | | | 546 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | VSX2 CL E G H | 338917 | 1975 | OMIM:610092 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 | | | | 66 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | HP:0040282 - Frequent | | | 2 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | HP:0040281 - Very frequent | | | 2 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0000589 | HP:0000480 | Retinal coloboma | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0000589 | HP:0000567 | Chorioretinal coloboma | 1 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 49 | | |
HP:0000589 | HP:0000612 | Iris coloboma | 1 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 49 | | |
HP:0000589 | HP:0031614 | Inferior retinal coloboma | 2 | CL E G H | | | | | | | | | | |
HP:0000589 | HP:0031613 | Inferior chorioretinal coloboma | 2 | CL E G H | | | | | | | | | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | HP:0040281 - Very frequent | | | 42 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | . | | | 42 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | DHX38 CL E G H | 9785 | 17211 | OMIM:618220 | Retinitis pigmentosa 84 | HP:0040284 - Very rare | | | 1 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040282 - Frequent | | | 101 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | . | | | 15 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0000589 | HP:0001116 | Macular coloboma | 2 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |