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:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | | | | 530 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:1000 | Ocular albinism with late-onset sensorineural deafness | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 4 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 182 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | | | | 42 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | | | | 35 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | | | | 20 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | | | | 636 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | | | | 9 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | | | | 15 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | | | | 60 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | DCT CL E G H | 1638 | 2709 | OMIM:619165 | OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8 | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | | | | 46 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | | | | 67 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 55 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | | | | 33 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | | | | 7 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | | | | 64 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | | | | 64 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | | | | 123 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | | | | 105 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 4 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 120 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | | | | 327 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | | | | 327 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 9 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | | | | 239 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 63 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MC1R CL E G H | 4157 | 6929 | OMIM:203200 | Albinism, oculocutaneous, type II | | | | 124 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 124 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MITF CL E G H | 4286 | 7105 | OMIM:103500 | Tietz syndrome | | | | 91 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 91 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MLPH CL E G H | 79083 | 29643 | ORPHA:79478 | Griscelli syndrome type 3 | | | | 7 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:132900 | Aortic aneurysm, familial thoracic 4 | . | | | 418 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | | | | 35 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79478 | Griscelli syndrome type 3 | | | | 35 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | | | | 516 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | | | | 516 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | OMIM:203200 | Albinism, oculocutaneous, type II | | | | 121 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 121 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 121 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | | | | 352 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | | | | 113 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | | | | 40 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:137600 | ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 | | | | 51 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 159 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | | | | 948 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SLC24A5 CL E G H | 283652 | 20611 | ORPHA:370097 | Oculocutaneous albinism type 6 | HP:0040281 - Very frequent | | | 12 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SLC45A2 CL E G H | 51151 | 16472 | OMIM:606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | | | | 42 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | | | | 42 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | | | | 19 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | | | | 19 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 19 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:608890 | Waardenburg syndrome, type 2D | | | | 19 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 37 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 37 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | | | | 61 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 61 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | | | | 61 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | | | | 146 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | | | | 146 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | | | | 146 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 146 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | TYRP1 CL E G H | 7306 | 12450 | ORPHA:79433 | Oculocutaneous albinism type 3 | | | | 62 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | | | | 278 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 278 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | | | | 278 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | | | | 278 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | | | | 173 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | | | | 78 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | | | | 777 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | | | | 155 | | |
HP:0008034 | HP:0008034 | Abnormal iris pigmentation | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | | | | 5 | | |
HP:0008034 | HP:0012634 | Iris pigment dispersion | 1 | CL E G H | | | | | | | | | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 530 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | AP3D1 CL E G H | 8943 | 568 | ORPHA:1000 | Ocular albinism with late-onset sensorineural deafness | | | | 1 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 1 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 4 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 182 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | | | | 42 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0008034 | HP:0012805 | Iris transillumination defect | 1 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | | | | 35 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0012805 | Iris transillumination defect | 1 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040283 - Occasional | | | 20 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 636 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 9 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0008034 | HP:0012805 | Iris transillumination defect | 1 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 15 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 60 | | |
HP:0008034 | HP:0012805 | Iris transillumination defect | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0008034 | HP:0012805 | Iris transillumination defect | 1 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0008034 | HP:0012805 | Iris transillumination defect | 1 | DCT CL E G H | 1638 | 2709 | OMIM:619165 | OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8 | | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | | | | 46 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | . | | | 67 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | | | | 67 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 55 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 33 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | . | | | 29 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | | | | 7 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | | | | 64 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 64 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | . | | | 38 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | | | | 123 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | | | | 105 | | |
HP:0008034 | HP:0012805 | Iris transillumination defect | 1 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | | | | 105 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 120 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | | | | 327 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | | | | 327 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 9 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | | | | 239 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | . | | | 239 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 63 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | 63 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | MC1R CL E G H | 4157 | 6929 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 124 | | |
HP:0008034 | HP:0012805 | Iris transillumination defect | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 124 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | MITF CL E G H | 4286 | 7105 | OMIM:103500 | Tietz syndrome | . | | | 91 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 91 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MLPH CL E G H | 79083 | 29643 | ORPHA:79478 | Griscelli syndrome type 3 | HP:0040283 - Occasional | | | 7 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | HP:0040281 - Very frequent | | | 35 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79478 | Griscelli syndrome type 3 | HP:0040283 - Occasional | | | 35 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 516 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 516 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | OCA2 CL E G H | 4948 | 8101 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 121 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0008034 | HP:0012805 | Iris transillumination defect | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 121 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | 121 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 352 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040283 - Occasional | | | 113 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 40 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 75 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 66 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 99 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:137600 | ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 | | | | 51 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | . | | | 134 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040283 - Occasional | | | 134 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 159 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0008034 | HP:0012775 | Stellate iris | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0008034 | HP:0001088 | Brushfield spots | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | | | | 948 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040283 - Occasional | | | 67 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | SLC45A2 CL E G H | 51151 | 16472 | OMIM:606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | | | | 42 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040282 - Frequent | | | 42 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | | | | 19 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | | | | 19 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 19 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SNAI2 CL E G H | 6591 | 11094 | OMIM:608890 | Waardenburg syndrome, type 2D | | | | 19 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 37 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 37 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | 37 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0008034 | HP:0012775 | Stellate iris | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | | | | 61 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 61 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | | | | 61 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | . | | | 61 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | | | | 146 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040281 - Very frequent | | | 146 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040281 - Very frequent | | | 146 | | |
HP:0008034 | HP:0200064 | Asymmetry of iris pigmentation | 1 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 146 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | TYRP1 CL E G H | 7306 | 12450 | ORPHA:79433 | Oculocutaneous albinism type 3 | HP:0040282 - Frequent | | | 62 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | TYRP1 CL E G H | 7306 | 12450 | ORPHA:79433 | Oculocutaneous albinism type 3 | HP:0040282 - Frequent | | | 62 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040282 - Frequent | | | 278 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 278 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 278 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 173 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 78 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 777 | | |
HP:0008034 | HP:0000635 | Blue irides | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 155 | | |
HP:0008034 | HP:0007730 | Iris hypopigmentation | 1 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 123 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | AP3D1 CL E G H | 8943 | 568 | ORPHA:1000 | Ocular albinism with late-onset sensorineural deafness | HP:0040281 - Very frequent | | | 1 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 1 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | . | | | 35 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | . | | | 46 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | . | | | 67 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 55 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040283 - Occasional | | | 133 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | . | | | 64 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 64 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | . | | | 123 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | . | | | 105 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | . | | | 45 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | . | | | 327 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | HP:0040283 - Occasional | | | 327 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 9 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | HP:0040281 - Very frequent | | | 239 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 91 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040281 - Very frequent | | | 59 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040282 - Frequent | | | 42 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | . | | | 19 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | HP:0040283 - Occasional | | | 19 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 19 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SNAI2 CL E G H | 6591 | 11094 | OMIM:608890 | Waardenburg syndrome, type 2D | . | | | 19 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040281 - Very frequent | | | 61 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 61 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | HP:0040283 - Occasional | | | 61 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | . | | | 61 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040281 - Very frequent | | | 146 | | |
HP:0008034 | HP:0001100 | Heterochromia iridis | 2 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 146 | | |
HP:0008034 | HP:0001107 | Ocular albinism | 2 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008034 | HP:0007818 | Central heterochromia | 3 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0008034 | HP:0007818 | Central heterochromia | 3 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0008034 | HP:0009781 | Lester's sign | 3 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0008034 | HP:0009781 | Lester's sign | 3 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0008034 | HP:0007818 | Central heterochromia | 3 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0008034 | HP:0007818 | Central heterochromia | 3 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | . | | | 103 | | |
HP:0008034 | HP:0007818 | Central heterochromia | 3 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0008034 | HP:0007818 | Central heterochromia | 3 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |