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:0000525 | HP:0000525 | Abnormality iris morphology | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:611788 | AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 | | | | 94 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 94 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ADAMTS17 CL E G H | 170691 | 17109 | OMIM:613195 | Weill-Marchesani syndrome 4 | | | | 214 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | | | | 84 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | ORPHA:1885 | Isolated ectopia lentis | | | | 84 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | | | | 530 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | | | | 175 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 175 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | | | | 46 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | | | | 37 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | | | | 9 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | | | | 150 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:1000 | Ocular albinism with late-onset sensorineural deafness | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | | | | 62 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | | | | 3 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | | | | 43 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | | | | 17 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | | | | 28 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | | | | 34 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | | | | 184 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | | | | 101 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BDNF CL E G H | 627 | 1033 | ORPHA:893 | WAGR syndrome | | | | 5 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 182 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | | | | 42 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | | | | 35 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | | | | 38 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:654 | Nephroblastoma | | | | 7642 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BTRC CL E G H | 8945 | 1144 | ORPHA:2440 | Isolated split hand-split foot malformation | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | | | | 13 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | | | | 13 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | | | | 20 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 247 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | | | | 636 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | | | | 5 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 342 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | | | | 90 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 90 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | | | | 9 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | | | | 15 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | | | | 60 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | | | | 193 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 3 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | | | | 54 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CRYAA CL E G H | 1409 | 2388 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CRYBA4 CL E G H | 1413 | 2396 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 10 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CRYBB1 CL E G H | 1414 | 2397 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 18 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CRYBB2 CL E G H | 1415 | 2398 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 13 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CRYGC CL E G H | 1420 | 2410 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 11 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CRYGD CL E G H | 1421 | 2411 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 29 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | | | | 57 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 101 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | | | | 108 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DCT CL E G H | 1638 | 2709 | OMIM:619165 | OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8 | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:654 | Nephroblastoma | | | | 164 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DLX5 CL E G H | 1749 | 2918 | ORPHA:2440 | Isolated split hand-split foot malformation | | | | 3 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DLX6 CL E G H | 1750 | 2919 | ORPHA:2440 | Isolated split hand-split foot malformation | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | | | | 46 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | | | | 67 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 55 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 54 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 172 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ELP4 CL E G H | 26610 | 1171 | OMIM:617141 | Aniridia 2 | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | EPS15L1 CL E G H | 58513 | 24634 | ORPHA:2440 | Isolated split hand-split foot malformation | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | | | | 12 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | | | | 8 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 1361 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:1885 | Isolated ectopia lentis | | | | 1361 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | | | | 1361 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FBXW4 CL E G H | 6468 | 10847 | ORPHA:2440 | Isolated split hand-split foot malformation | | | | 37 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | | | | 18 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | | | | 175 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | | | | 157 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | | | | 184 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300244 | Terminal osseous dysplasia | | | | 493 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:88630 | Terminal osseous dysplasia-pigmentary defects syndrome | | | | 493 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:250923 | Isolated aniridia | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | | | | 23 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 23 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613702 | Klippel-Feil syndrome 3, autosomal dominant | | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | | | | 188 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | | | | 68 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GJA8 CL E G H | 2703 | 4281 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 34 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 16 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | | | | 16 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:654 | Nephroblastoma | | | | 73 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | | | | 64 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | | | | 64 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:618031 | Corneal dystrophy, posterior polymorphous, 4 | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:654 | Nephroblastoma | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | | | | 123 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | | | | 105 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 113 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | | | | 31 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | | | | 5 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 120 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | | | | 111 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 111 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:1065 | Aniridia-cerebellar ataxia-intellectual disability syndrome | | | | 177 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | | | | 177 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | | | | 24 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | | | | 327 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | | | | 327 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 9 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 196 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 196 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | | | | 5 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | | | | 136 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LDHD CL E G H | 197257 | 19708 | OMIM:245450 | LACTIC ACIDURIA DUE TO D-LACTIC ACID | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | | | | 12 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 6 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | | | | 3 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | | | | 8 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | | | | 125 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | | | | 123 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | | | | 239 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | | | | 5 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | | | | 21 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1377 | Cataract-microcornea syndrome | | | | 21 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 13 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | | | | 22 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MC1R CL E G H | 4157 | 6929 | OMIM:203200 | Albinism, oculocutaneous, type II | | | | 124 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 124 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 11 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MIR184 CL E G H | 406960 | 31555 | OMIM:614303 | Edict syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MIR204 CL E G H | 406987 | 31582 | OMIM:616722 | Retinal dystrophy and iris coloboma with or without congenital cataract | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MITF CL E G H | 4286 | 7105 | OMIM:103500 | Tietz syndrome | | | | 91 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 91 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | | | | 127 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 127 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MLPH CL E G H | 79083 | 29643 | ORPHA:79478 | Griscelli syndrome type 3 | | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 64 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MPDZ CL E G H | 8777 | 7208 | OMIM:615219 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | | | | 29 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | | | | 134 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MTSS2 CL E G H | 92154 | 25094 | OMIM:620086 | | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:132900 | Aortic aneurysm, familial thoracic 4 | | | | 418 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 418 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 326 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | | | | 35 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79478 | Griscelli syndrome type 3 | | | | 35 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | | | | 516 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | | | | 516 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYOC CL E G H | 4653 | 7610 | OMIM:137750 | Glaucoma 1, open angle, A | | | | 47 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 47 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:190 | Coats disease | | | | 39 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | | | | 39 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | | | | 187 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | | | | 144 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 85 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 102 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | OCA2 CL E G H | 4948 | 8101 | OMIM:203200 | Albinism, oculocutaneous, type II | | | | 121 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 121 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 121 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:1065 | Aniridia-cerebellar ataxia-intellectual disability syndrome | | | | 194 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | | | | 194 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | | | | 194 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:250923 | Isolated aniridia | | | | 194 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:137902 | Isolated optic nerve hypoplasia/aplasia | | | | 194 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:893 | WAGR syndrome | | | | 194 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 194 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | | | | 352 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | | | | 11 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | | | | 113 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | | | | 40 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:2151 | Hirschsprung disease-ganglioneuroblastoma syndrome | | | | 86 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | | | | 43 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | | | | 43 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:137600 | ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 | | | | 51 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | | | | 51 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | | | | 103 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | | | | 180 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | | | | 18 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | | | | 213 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | | | | 221 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | POU6F2 CL E G H | 11281 | 21694 | ORPHA:654 | Nephroblastoma | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 41 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 159 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | | | | 665 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | | | | 40 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | | | | 948 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | | | | 365 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RB1 CL E G H | 5925 | 9884 | OMIM:180200 | RETINOBLASTOMA | | | | 365 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:616428 | Microphthalmia, isolated, with coloboma 10 | | | | 8 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:615147 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | | | | 8 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | | | | 16 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | REST CL E G H | 5978 | 9966 | ORPHA:654 | Nephroblastoma | | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ROR1 CL E G H | 4919 | 10256 | OMIM:617654 | Deafness, autosomal recessive 108 | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 167 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SALL2 CL E G H | 6297 | 10526 | OMIM:216820 | COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SEM1 CL E G H | 7979 | 10845 | ORPHA:2440 | Isolated split hand-split foot malformation | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | | | | 19 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | | | | 67 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | | | | 20 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SLC24A5 CL E G H | 283652 | 20611 | ORPHA:370097 | Oculocutaneous albinism type 6 | | | | 12 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SLC45A2 CL E G H | 51151 | 16472 | OMIM:606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | | | | 42 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | | | | 42 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 7 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 260 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 504 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | | | | 174 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | | | | 22 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | | | | 19 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | | | | 19 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 19 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:608890 | Waardenburg syndrome, type 2D | | | | 19 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 37 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 37 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | | | | 61 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 61 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | | | | 61 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | | | | 80 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | | | | 31 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | | | | 31 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | | | | 124 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | | | | 124 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | | | | 28 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | | | | 45 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | | | | 76 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | | | | 12 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 162 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 85 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 239 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 253 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | | | | 60 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 39 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 45 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | | | | 82 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 82 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 82 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | | | | 166 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:2440 | Isolated split hand-split foot malformation | | | | 140 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TRIM28 CL E G H | 10155 | 16384 | ORPHA:654 | Nephroblastoma | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TRIM44 CL E G H | 54765 | 19016 | ORPHA:250923 | Isolated aniridia | | | | 1 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:654 | Nephroblastoma | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | | | | 146 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | | | | 146 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | | | | 146 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 146 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TYRP1 CL E G H | 7306 | 12450 | ORPHA:79433 | Oculocutaneous albinism type 3 | | | | 62 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | | | | 278 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 278 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 278 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | | | | 278 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | | | | 173 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | | | | 78 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | | | | 777 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 47 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | VSX2 CL E G H | 338917 | 1975 | OMIM:610092 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 | | | | 66 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | | | | 155 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:2440 | Isolated split hand-split foot malformation | | | | 4 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:654 | Nephroblastoma | | | | 177 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:893 | WAGR syndrome | | | | 177 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 177 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | | | | 5 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | | | | 2 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 8 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | | | | 362 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 49 | | |
HP:0000525 | HP:0011525 | Iris nevus | 1 | CL E G H | | | | | | | | | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | ACTA2 CL E G H | 59 | 130 | OMIM:611788 | AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 | | | | 94 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | ADAMTS17 CL E G H | 170691 | 17109 | OMIM:613195 | Weill-Marchesani syndrome 4 | . | | | 214 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | | | | 84 | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | ADAMTSL4 CL E G H | 54507 | 19706 | ORPHA:1885 | Isolated ectopia lentis | | | | 84 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | | | | 530 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 175 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | AP3D1 CL E G H | 8943 | 568 | ORPHA:1000 | Ocular albinism with late-onset sensorineural deafness | | | | 1 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | | | | 1 | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 1 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 1 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | . | | | 4 | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000525 | 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:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 4 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 184 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | BDNF CL E G H | 627 | 1033 | ORPHA:893 | WAGR syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 182 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | | | | 42 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | | | | 35 | | |
HP:0000525 | 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:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:654 | Nephroblastoma | | | | 7642 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | BTRC CL E G H | 8945 | 1144 | ORPHA:2440 | Isolated split hand-split foot malformation | | | | 2 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | | | | 20 | | |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040283 - Occasional | | | 20 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | | | | 636 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 7 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040282 - Frequent | | | 342 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040283 - Occasional | | | 90 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | | | | 9 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | . | | | 9 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | | | | 15 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | | | | 60 | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | | | | 3 | | |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 6 | | |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | CPAMD8 |