Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
Grandparent Node:
expand
Abnormal uvea morphology (HP:0000553)help
Parent Node:
expand
Abnormality iris morphology (HP:0000525)help
..Starting node
..expand
Abnormal iris pigmentation (HP:0008034)help
Term ID: 8034
Name: Abnormal iris pigmentation
Synonym:
Definition: Abnormal pigmentation of the iris.
Comments:
Reference: HP:0008034
Genes and Diseases:
 
       Child Nodes:
........expandBlue irides (HP:0000635) help
........expandBrushfield spots (HP:0001088) help
........expandIris hypopigmentation (HP:0007730) help
................... HP:0001107 Ocular albinism
........expandIris pigment dispersion (HP:0012634) help
........expandStellate iris (HP:0012775) help
........expandIris transillumination defect (HP:0012805) help
........expandAsymmetry of iris pigmentation (HP:0200064) help
................... HP:0001100 Heterochromia iridis

 Sister Nodes: 
..expandAbnormal iris vasculature (HP:0007905) help
..expandAbnormal pupil morphology (HP:0000615) help
..expandAplasia/Hypoplasia of the iris (HP:0008053) help
..expandIridodonesis (HP:0100693) help
..expandIris atrophy (HP:0001089) help
..expandIris coloboma (HP:0000612) help
..expandIris cyst (HP:0011523) help
..expandIris flocculi (HP:0500007) help
..expandIris melanoma (HP:0011524) help
..expandIris nevus (HP:0011525) help
..expandIritis (HP:0001101) help
..expandLisch nodules (HP:0009737) help
..expandUveal ectropion (HP:0025358) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008034HP:0008034Abnormal iris pigmentation0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0008034HP:0008034Abnormal iris pigmentation0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0008034HP:0008034Abnormal iris pigmentation0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2530
HP:0008034HP:0008034Abnormal iris pigmentation0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0008034HP:0008034Abnormal iris pigmentation0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0008034HP:0008034Abnormal iris pigmentation0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0008034HP:0008034Abnormal iris pigmentation0AP3D1 CL E G H8943568ORPHA:1000Ocular albinism with late-onset sensorineural deafness1
HP:0008034HP:0008034Abnormal iris pigmentation0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinism1
HP:0008034HP:0008034Abnormal iris pigmentation0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3
HP:0008034HP:0008034Abnormal iris pigmentation0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0008034HP:0008034Abnormal iris pigmentation0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0BEST1 CL E G H743912703ORPHA:99000Adult-onset foveomacular vitelliform dystrophy182
HP:0008034HP:0008034Abnormal iris pigmentation0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0008034HP:0008034Abnormal iris pigmentation0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008034HP:0008034Abnormal iris pigmentation0BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 935
HP:0008034HP:0008034Abnormal iris pigmentation0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0008034HP:0008034Abnormal iris pigmentation0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0008034HP:0008034Abnormal iris pigmentation0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1636
HP:0008034HP:0008034Abnormal iris pigmentation0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 39
HP:0008034HP:0008034Abnormal iris pigmentation0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0008034HP:0008034Abnormal iris pigmentation0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0008034HP:0008034Abnormal iris pigmentation0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 115
HP:0008034HP:0008034Abnormal iris pigmentation0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 360
HP:0008034HP:0008034Abnormal iris pigmentation0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0008034HP:0008034Abnormal iris pigmentation0CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0008034HP:0008034Abnormal iris pigmentation0DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008034HP:0008034Abnormal iris pigmentation0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 746
HP:0008034HP:0008034Abnormal iris pigmentation0EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B67
HP:0008034HP:0008034Abnormal iris pigmentation0EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 255
HP:0008034HP:0008034Abnormal iris pigmentation0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome55
HP:0008034HP:0008034Abnormal iris pigmentation0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008034HP:0008034Abnormal iris pigmentation0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0008034HP:0008034Abnormal iris pigmentation0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0008034HP:0008034Abnormal iris pigmentation0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0008034HP:0008034Abnormal iris pigmentation0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 133
HP:0008034HP:0008034Abnormal iris pigmentation0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0008034HP:0008034Abnormal iris pigmentation0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0008034HP:0008034Abnormal iris pigmentation0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0008034HP:0008034Abnormal iris pigmentation0GPR143 CL E G H493520145OMIM:300500Albinism, ocular, type I64
HP:0008034HP:0008034Abnormal iris pigmentation0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinism64
HP:0008034HP:0008034Abnormal iris pigmentation0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008034HP:0008034Abnormal iris pigmentation0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008034HP:0008034Abnormal iris pigmentation0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008034HP:0008034Abnormal iris pigmentation0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3
HP:0008034HP:0008034Abnormal iris pigmentation0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0008034HP:0008034Abnormal iris pigmentation0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0008034HP:0008034Abnormal iris pigmentation0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0008034HP:0008034Abnormal iris pigmentation0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0008034HP:0008034Abnormal iris pigmentation0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0008034HP:0008034Abnormal iris pigmentation0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0008034HP:0008034Abnormal iris pigmentation0HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0008034HP:0008034Abnormal iris pigmentation0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0008034HP:0008034Abnormal iris pigmentation0IMPG1 CL E G H36176055ORPHA:99000Adult-onset foveomacular vitelliform dystrophy4
HP:0008034HP:0008034Abnormal iris pigmentation0IMPG2 CL E G H5093918362ORPHA:99000Adult-onset foveomacular vitelliform dystrophy120
HP:0008034HP:0008034Abnormal iris pigmentation0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0008034HP:0008034Abnormal iris pigmentation0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0008034HP:0008034Abnormal iris pigmentation0KIT CL E G H38156342OMIM:172800Piebald trait327
HP:0008034HP:0008034Abnormal iris pigmentation0KIT CL E G H38156342ORPHA:2884Piebaldism327
HP:0008034HP:0008034Abnormal iris pigmentation0KITLG CL E G H42546343OMIM:6199479
HP:0008034HP:0008034Abnormal iris pigmentation0KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 29
HP:0008034HP:0008034Abnormal iris pigmentation0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040282 - Frequent165
HP:0008034HP:0008034Abnormal iris pigmentation0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0008034HP:0008034Abnormal iris pigmentation0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndrome239
HP:0008034HP:0008034Abnormal iris pigmentation0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0008034HP:0008034Abnormal iris pigmentation0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0008034HP:0008034Abnormal iris pigmentation0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0008034HP:0008034Abnormal iris pigmentation0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0008034HP:0008034Abnormal iris pigmentation0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutation63
HP:0008034HP:0008034Abnormal iris pigmentation0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0008034HP:0008034Abnormal iris pigmentation0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0008034HP:0008034Abnormal iris pigmentation0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0008034HP:0008034Abnormal iris pigmentation0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0008034HP:0008034Abnormal iris pigmentation0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0008034HP:0008034Abnormal iris pigmentation0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0008034HP:0008034Abnormal iris pigmentation0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008034HP:0008034Abnormal iris pigmentation0MITF CL E G H42867105OMIM:103500Tietz syndrome91
HP:0008034HP:0008034Abnormal iris pigmentation0MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 291
HP:0008034HP:0008034Abnormal iris pigmentation0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0008034HP:0008034Abnormal iris pigmentation0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0008034HP:0008034Abnormal iris pigmentation0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0MLPH CL E G H7908329643ORPHA:79478Griscelli syndrome type 37
HP:0008034HP:0008034Abnormal iris pigmentation0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008034HP:0008034Abnormal iris pigmentation0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0008034HP:0008034Abnormal iris pigmentation0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0MYH11 CL E G H46297569OMIM:132900Aortic aneurysm, familial thoracic 4.418
HP:0008034HP:0008034Abnormal iris pigmentation0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 135
HP:0008034HP:0008034Abnormal iris pigmentation0MYO5A CL E G H46447602ORPHA:79478Griscelli syndrome type 335
HP:0008034HP:0008034Abnormal iris pigmentation0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1516
HP:0008034HP:0008034Abnormal iris pigmentation0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2516
HP:0008034HP:0008034Abnormal iris pigmentation0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008034HP:0008034Abnormal iris pigmentation0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutation
HP:0008034HP:0008034Abnormal iris pigmentation0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0008034HP:0008034Abnormal iris pigmentation0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0008034HP:0008034Abnormal iris pigmentation0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0008034HP:0008034Abnormal iris pigmentation0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0008034HP:0008034Abnormal iris pigmentation0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0008034HP:0008034Abnormal iris pigmentation0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0008034HP:0008034Abnormal iris pigmentation0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0008034HP:0008034Abnormal iris pigmentation0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0008034HP:0008034Abnormal iris pigmentation0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0008034HP:0008034Abnormal iris pigmentation0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0008034HP:0008034Abnormal iris pigmentation0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0008034HP:0008034Abnormal iris pigmentation0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0008034HP:0008034Abnormal iris pigmentation0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0008034HP:0008034Abnormal iris pigmentation0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1352
HP:0008034HP:0008034Abnormal iris pigmentation0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance113
HP:0008034HP:0008034Abnormal iris pigmentation0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0008034HP:0008034Abnormal iris pigmentation0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 240
HP:0008034HP:0008034Abnormal iris pigmentation0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0008034HP:0008034Abnormal iris pigmentation0PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0008034HP:0008034Abnormal iris pigmentation0PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0008034HP:0008034Abnormal iris pigmentation0PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0008034HP:0008034Abnormal iris pigmentation0PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0008034HP:0008034Abnormal iris pigmentation0PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0008034HP:0008034Abnormal iris pigmentation0PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0008034HP:0008034Abnormal iris pigmentation0PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0008034HP:0008034Abnormal iris pigmentation0PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0008034HP:0008034Abnormal iris pigmentation0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger)82
HP:0008034HP:0008034Abnormal iris pigmentation0PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0008034HP:0008034Abnormal iris pigmentation0PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0008034HP:0008034Abnormal iris pigmentation0PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0008034HP:0008034Abnormal iris pigmentation0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0008034HP:0008034Abnormal iris pigmentation0PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0008034HP:0008034Abnormal iris pigmentation0PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0008034HP:0008034Abnormal iris pigmentation0PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0008034HP:0008034Abnormal iris pigmentation0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0008034HP:0008034Abnormal iris pigmentation0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0008034HP:0008034Abnormal iris pigmentation0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0008034HP:0008034Abnormal iris pigmentation0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0008034HP:0008034Abnormal iris pigmentation0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0PRPH2 CL E G H59619942ORPHA:99000Adult-onset foveomacular vitelliform dystrophy159
HP:0008034HP:0008034Abnormal iris pigmentation0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008034HP:0008034Abnormal iris pigmentation0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0008034HP:0008034Abnormal iris pigmentation0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0008034HP:0008034Abnormal iris pigmentation0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 267
HP:0008034HP:0008034Abnormal iris pigmentation0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0008034HP:0008034Abnormal iris pigmentation0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0008034HP:0008034Abnormal iris pigmentation0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0008034HP:0008034Abnormal iris pigmentation0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0008034HP:0008034Abnormal iris pigmentation0SLC24A5 CL E G H28365220611ORPHA:370097Oculocutaneous albinism type 6HP:0040281 - Very frequent12
HP:0008034HP:0008034Abnormal iris pigmentation0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0008034HP:0008034Abnormal iris pigmentation0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 442
HP:0008034HP:0008034Abnormal iris pigmentation0SNAI2 CL E G H659111094OMIM:172800Piebald trait19
HP:0008034HP:0008034Abnormal iris pigmentation0SNAI2 CL E G H659111094ORPHA:2884Piebaldism19
HP:0008034HP:0008034Abnormal iris pigmentation0SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 219
HP:0008034HP:0008034Abnormal iris pigmentation0SNAI2 CL E G H659111094OMIM:608890Waardenburg syndrome, type 2D19
HP:0008034HP:0008034Abnormal iris pigmentation0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0008034HP:0008034Abnormal iris pigmentation0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q1337
HP:0008034HP:0008034Abnormal iris pigmentation0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutation37
HP:0008034HP:0008034Abnormal iris pigmentation0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0008034HP:0008034Abnormal iris pigmentation0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0008034HP:0008034Abnormal iris pigmentation0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0008034HP:0008034Abnormal iris pigmentation0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0008034HP:0008034Abnormal iris pigmentation0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0008034HP:0008034Abnormal iris pigmentation0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0008034HP:0008034Abnormal iris pigmentation0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0008034HP:0008034Abnormal iris pigmentation0SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 261
HP:0008034HP:0008034Abnormal iris pigmentation0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0008034HP:0008034Abnormal iris pigmentation0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C61
HP:0008034HP:0008034Abnormal iris pigmentation0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0008034HP:0008034Abnormal iris pigmentation0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0008034HP:0008034Abnormal iris pigmentation0TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3
HP:0008034HP:0008034Abnormal iris pigmentation0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0008034HP:0008034Abnormal iris pigmentation0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0008034HP:0008034Abnormal iris pigmentation0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0008034HP:0008034Abnormal iris pigmentation0TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2146
HP:0008034HP:0008034Abnormal iris pigmentation0TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 362
HP:0008034HP:0008034Abnormal iris pigmentation0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0008034HP:0008034Abnormal iris pigmentation0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0008034HP:0008034Abnormal iris pigmentation0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13278
HP:0008034HP:0008034Abnormal iris pigmentation0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0008034HP:0008034Abnormal iris pigmentation0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15278
HP:0008034HP:0008034Abnormal iris pigmentation0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1173
HP:0008034HP:0008034Abnormal iris pigmentation0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 178
HP:0008034HP:0008034Abnormal iris pigmentation0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2777
HP:0008034HP:0008034Abnormal iris pigmentation0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008034HP:0008034Abnormal iris pigmentation0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2155
HP:0008034HP:0008034Abnormal iris pigmentation0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndrome5
HP:0008034HP:0012634Iris pigment dispersion1 CL E G H
HP:0008034HP:0200064Asymmetry of iris pigmentation1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0008034HP:0200064Asymmetry of iris pigmentation1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0008034HP:0007730Iris hypopigmentation1ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent530
HP:0008034HP:0200064Asymmetry of iris pigmentation1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0008034HP:0007730Iris hypopigmentation1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0008034HP:0007730Iris hypopigmentation1AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0008034HP:0007730Iris hypopigmentation1AP3D1 CL E G H8943568ORPHA:1000Ocular albinism with late-onset sensorineural deafness1
HP:0008034HP:0007730Iris hypopigmentation1AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent1
HP:0008034HP:0007730Iris hypopigmentation1ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0008034HP:0007730Iris hypopigmentation1ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent4
HP:0008034HP:0000635Blue irides1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0000635Blue irides1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0007730Iris hypopigmentation1BEST1 CL E G H743912703ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent182
HP:0008034HP:0007730Iris hypopigmentation1BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0008034HP:0012805Iris transillumination defect1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008034HP:0007730Iris hypopigmentation1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008034HP:0007730Iris hypopigmentation1BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 935
HP:0008034HP:0000635Blue irides1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0012805Iris transillumination defect1C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0008034HP:0007730Iris hypopigmentation1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0008034HP:0007730Iris hypopigmentation1CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent636
HP:0008034HP:0007730Iris hypopigmentation1CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent9
HP:0008034HP:0200064Asymmetry of iris pigmentation1CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0008034HP:0012805Iris transillumination defect1CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0008034HP:0007730Iris hypopigmentation1CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent15
HP:0008034HP:0000635Blue irides1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0007730Iris hypopigmentation1CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent60
HP:0008034HP:0012805Iris transillumination defect1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0008034HP:0012805Iris transillumination defect1CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0008034HP:0012805Iris transillumination defect1DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008034HP:0000635Blue irides1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0007730Iris hypopigmentation1DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 746
HP:0008034HP:0000635Blue irides1EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B.67
HP:0008034HP:0200064Asymmetry of iris pigmentation1EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B67
HP:0008034HP:0200064Asymmetry of iris pigmentation1EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 255
HP:0008034HP:0000635Blue irides1EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0008034HP:0200064Asymmetry of iris pigmentation1EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome55
HP:0008034HP:0000635Blue irides1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0000635Blue irides1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0008034HP:0000635Blue irides1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0008034HP:0200064Asymmetry of iris pigmentation1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0008034HP:0007730Iris hypopigmentation1EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0008034HP:0007730Iris hypopigmentation1ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent33
HP:0008034HP:0000635Blue irides1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0007730Iris hypopigmentation1GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0008034HP:0001088Brushfield spots1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0008034HP:0200064Asymmetry of iris pigmentation1GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0008034HP:0007730Iris hypopigmentation1GPR143 CL E G H493520145OMIM:300500Albinism, ocular, type I64
HP:0008034HP:0007730Iris hypopigmentation1GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent64
HP:0008034HP:0000635Blue irides1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008034HP:0000635Blue irides1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008034HP:0000635Blue irides1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008034HP:0007730Iris hypopigmentation1HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0008034HP:0000635Blue irides1HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0008034HP:0007730Iris hypopigmentation1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0008034HP:0007730Iris hypopigmentation1HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0008034HP:0007730Iris hypopigmentation1HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0008034HP:0007730Iris hypopigmentation1HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0008034HP:0012805Iris transillumination defect1HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0008034HP:0007730Iris hypopigmentation1HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0008034HP:0200064Asymmetry of iris pigmentation1HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0008034HP:0007730Iris hypopigmentation1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0008034HP:0007730Iris hypopigmentation1IMPG1 CL E G H36176055ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent4
HP:0008034HP:0007730Iris hypopigmentation1IMPG2 CL E G H5093918362ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent120
HP:0008034HP:0007730Iris hypopigmentation1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0008034HP:0007730Iris hypopigmentation1KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0008034HP:0007730Iris hypopigmentation1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0008034HP:0200064Asymmetry of iris pigmentation1KIT CL E G H38156342OMIM:172800Piebald trait327
HP:0008034HP:0200064Asymmetry of iris pigmentation1KIT CL E G H38156342ORPHA:2884Piebaldism327
HP:0008034HP:0200064Asymmetry of iris pigmentation1KITLG CL E G H42546343OMIM:6199479
HP:0008034HP:0000635Blue irides1KITLG CL E G H42546343OMIM:6199479
HP:0008034HP:0200064Asymmetry of iris pigmentation1KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 29
HP:0008034HP:0000635Blue irides1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0200064Asymmetry of iris pigmentation1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0008034HP:0200064Asymmetry of iris pigmentation1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0008034HP:0007730Iris hypopigmentation1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0008034HP:0007730Iris hypopigmentation1LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndrome239
HP:0008034HP:0007730Iris hypopigmentation1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0008034HP:0007730Iris hypopigmentation1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0008034HP:0200064Asymmetry of iris pigmentation1MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0008034HP:0007730Iris hypopigmentation1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0008034HP:0007730Iris hypopigmentation1MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare63
HP:0008034HP:0007730Iris hypopigmentation1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare63
HP:0008034HP:0007730Iris hypopigmentation1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0008034HP:0007730Iris hypopigmentation1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0008034HP:0000635Blue irides1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0008034HP:0000635Blue irides1MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0008034HP:0007730Iris hypopigmentation1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0008034HP:0012805Iris transillumination defect1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0008034HP:0200064Asymmetry of iris pigmentation1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0008034HP:0000635Blue irides1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0008034HP:0000635Blue irides1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008034HP:0000635Blue irides1MITF CL E G H42867105OMIM:103500Tietz syndrome.91
HP:0008034HP:0200064Asymmetry of iris pigmentation1MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 291
HP:0008034HP:0200064Asymmetry of iris pigmentation1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0008034HP:0007730Iris hypopigmentation1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0008034HP:0007730Iris hypopigmentation1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0008034HP:0007730Iris hypopigmentation1MLPH CL E G H7908329643ORPHA:79478Griscelli syndrome type 3HP:0040283 - Occasional7
HP:0008034HP:0000635Blue irides1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008034HP:0000635Blue irides1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0008034HP:0007730Iris hypopigmentation1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0008034HP:0007730Iris hypopigmentation1MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 1HP:0040281 - Very frequent35
HP:0008034HP:0007730Iris hypopigmentation1MYO5A CL E G H46447602ORPHA:79478Griscelli syndrome type 3HP:0040283 - Occasional35
HP:0008034HP:0007730Iris hypopigmentation1MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent516
HP:0008034HP:0007730Iris hypopigmentation1MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent516
HP:0008034HP:0000635Blue irides1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0008034HP:0007730Iris hypopigmentation1NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare
HP:0008034HP:0007730Iris hypopigmentation1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare
HP:0008034HP:0007730Iris hypopigmentation1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0008034HP:0007730Iris hypopigmentation1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0008034HP:0007730Iris hypopigmentation1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0008034HP:0000635Blue irides1OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0008034HP:0007730Iris hypopigmentation1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0008034HP:0200064Asymmetry of iris pigmentation1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0008034HP:0007730Iris hypopigmentation1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0008034HP:0000635Blue irides1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0008034HP:0012805Iris transillumination defect1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0008034HP:0007730Iris hypopigmentation1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare121
HP:0008034HP:0007730Iris hypopigmentation1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0008034HP:0007730Iris hypopigmentation1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0008034HP:0200064Asymmetry of iris pigmentation1PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0008034HP:0200064Asymmetry of iris pigmentation1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0008034HP:0000635Blue irides1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0008034HP:0200064Asymmetry of iris pigmentation1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0008034HP:0000635Blue irides1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0008034HP:0007730Iris hypopigmentation1PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent352
HP:0008034HP:0000635Blue irides1PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0008034HP:0000635Blue irides1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040283 - Occasional113
HP:0008034HP:0007730Iris hypopigmentation1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0008034HP:0007730Iris hypopigmentation1PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent40
HP:0008034HP:0001088Brushfield spots1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0008034HP:0001088Brushfield spots1PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040283 - Occasional169
HP:0008034HP:0001088Brushfield spots1PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040283 - Occasional75
HP:0008034HP:0001088Brushfield spots1PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040283 - Occasional4
HP:0008034HP:0001088Brushfield spots1PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040283 - Occasional65
HP:0008034HP:0001088Brushfield spots1PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040283 - Occasional66
HP:0008034HP:0001088Brushfield spots1PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040283 - Occasional46
HP:0008034HP:0001088Brushfield spots1PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040283 - Occasional59
HP:0008034HP:0001088Brushfield spots1PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040283 - Occasional62
HP:0008034HP:0001088Brushfield spots1PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0008034HP:0001088Brushfield spots1PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040283 - Occasional82
HP:0008034HP:0001088Brushfield spots1PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040283 - Occasional106
HP:0008034HP:0001088Brushfield spots1PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040283 - Occasional47
HP:0008034HP:0001088Brushfield spots1PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0008034HP:0001088Brushfield spots1PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040283 - Occasional99
HP:0008034HP:0001088Brushfield spots1PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040283 - Occasional98
HP:0008034HP:0007730Iris hypopigmentation1PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0008034HP:0200064Asymmetry of iris pigmentation1PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0008034HP:0007730Iris hypopigmentation1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0008034HP:0000635Blue irides1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0008034HP:0000635Blue irides1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040283 - Occasional134
HP:0008034HP:0007730Iris hypopigmentation1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0008034HP:0007730Iris hypopigmentation1PRPH2 CL E G H59619942ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent159
HP:0008034HP:0000635Blue irides1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008034HP:0012775Stellate iris1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008034HP:0001088Brushfield spots1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008034HP:0200064Asymmetry of iris pigmentation1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0008034HP:0200064Asymmetry of iris pigmentation1PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0008034HP:0007730Iris hypopigmentation1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0008034HP:0007730Iris hypopigmentation1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0008034HP:0007730Iris hypopigmentation1RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040283 - Occasional67
HP:0008034HP:0007730Iris hypopigmentation1RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0008034HP:0000635Blue irides1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0000635Blue irides1RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0008034HP:0200064Asymmetry of iris pigmentation1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0008034HP:0007730Iris hypopigmentation1SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0008034HP:0000635Blue irides1SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0008034HP:0007730Iris hypopigmentation1SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0008034HP:0200064Asymmetry of iris pigmentation1SNAI2 CL E G H659111094OMIM:172800Piebald trait19
HP:0008034HP:0200064Asymmetry of iris pigmentation1SNAI2 CL E G H659111094ORPHA:2884Piebaldism19
HP:0008034HP:0200064Asymmetry of iris pigmentation1SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 219
HP:0008034HP:0200064Asymmetry of iris pigmentation1SNAI2 CL E G H659111094OMIM:608890Waardenburg syndrome, type 2D19
HP:0008034HP:0007730Iris hypopigmentation1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0008034HP:0007730Iris hypopigmentation1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0008034HP:0000635Blue irides1SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0008034HP:0007730Iris hypopigmentation1SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent37
HP:0008034HP:0007730Iris hypopigmentation1SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare37
HP:0008034HP:0007730Iris hypopigmentation1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040284 - Very rare37
HP:0008034HP:0007730Iris hypopigmentation1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0008034HP:0007730Iris hypopigmentation1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0008034HP:0007730Iris hypopigmentation1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0008034HP:0012775Stellate iris1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0008034HP:0000635Blue irides1SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0008034HP:0200064Asymmetry of iris pigmentation1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0008034HP:0200064Asymmetry of iris pigmentation1SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0008034HP:0200064Asymmetry of iris pigmentation1SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 261
HP:0008034HP:0200064Asymmetry of iris pigmentation1SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0008034HP:0007730Iris hypopigmentation1SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0008034HP:0000635Blue irides1SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0008034HP:0000635Blue irides1SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C.61
HP:0008034HP:0200064Asymmetry of iris pigmentation1SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C61
HP:0008034HP:0007730Iris hypopigmentation1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0008034HP:0000635Blue irides1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0000635Blue irides1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0000635Blue irides1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0000635Blue irides1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0008034HP:0007730Iris hypopigmentation1TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0008034HP:0000635Blue irides1TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0008034HP:0007730Iris hypopigmentation1TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0008034HP:0007730Iris hypopigmentation1TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0008034HP:0007730Iris hypopigmentation1TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040281 - Very frequent146
HP:0008034HP:0200064Asymmetry of iris pigmentation1TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2146
HP:0008034HP:0000635Blue irides1TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040282 - Frequent62
HP:0008034HP:0007730Iris hypopigmentation1TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040282 - Frequent62
HP:0008034HP:0000635Blue irides1UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0008034HP:0007730Iris hypopigmentation1UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040282 - Frequent278
HP:0008034HP:0007730Iris hypopigmentation1UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent278
HP:0008034HP:0007730Iris hypopigmentation1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0008034HP:0007730Iris hypopigmentation1UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0008034HP:0007730Iris hypopigmentation1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0008034HP:0007730Iris hypopigmentation1USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent173
HP:0008034HP:0007730Iris hypopigmentation1USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent78
HP:0008034HP:0007730Iris hypopigmentation1USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent777
HP:0008034HP:0000635Blue irides1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008034HP:0007730Iris hypopigmentation1WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent155
HP:0008034HP:0007730Iris hypopigmentation1XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040281 - Very frequent5
HP:0008034HP:0001100Heterochromia iridis2ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent72
HP:0008034HP:0001100Heterochromia iridis2ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent123
HP:0008034HP:0001100Heterochromia iridis2AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0008034HP:0001107Ocular albinism2AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0008034HP:0001107Ocular albinism2AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0008034HP:0001107Ocular albinism2AP3D1 CL E G H8943568ORPHA:1000Ocular albinism with late-onset sensorineural deafnessHP:0040281 - Very frequent1
HP:0008034HP:0001107Ocular albinism2AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent1
HP:0008034HP:0001107Ocular albinism2BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0008034HP:0001107Ocular albinism2BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008034HP:0001107Ocular albinism2BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 9.35
HP:0008034HP:0001107Ocular albinism2CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0008034HP:0001100Heterochromia iridis2CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0008034HP:0001107Ocular albinism2DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 7.46
HP:0008034HP:0001100Heterochromia iridis2EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B.67
HP:0008034HP:0001100Heterochromia iridis2EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent55
HP:0008034HP:0001100Heterochromia iridis2EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0008034HP:0001100Heterochromia iridis2ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040283 - Occasional133
HP:0008034HP:0001107Ocular albinism2EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0008034HP:0001107Ocular albinism2GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0008034HP:0001100Heterochromia iridis2GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0008034HP:0001107Ocular albinism2GPR143 CL E G H493520145OMIM:300500Albinism, ocular, type I.64
HP:0008034HP:0001107Ocular albinism2GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent64
HP:0008034HP:0001107Ocular albinism2HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0008034HP:0001107Ocular albinism2HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4.123
HP:0008034HP:0001107Ocular albinism2HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0008034HP:0001107Ocular albinism2HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6.45
HP:0008034HP:0001100Heterochromia iridis2HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0008034HP:0001107Ocular albinism2HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0008034HP:0001107Ocular albinism2KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0008034HP:0001100Heterochromia iridis2KIT CL E G H38156342OMIM:172800Piebald trait.327
HP:0008034HP:0001100Heterochromia iridis2KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040283 - Occasional327
HP:0008034HP:0001100Heterochromia iridis2KITLG CL E G H42546343OMIM:6199479
HP:0008034HP:0001100Heterochromia iridis2KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent9
HP:0008034HP:0001100Heterochromia iridis2LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0008034HP:0001100Heterochromia iridis2LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0008034HP:0001107Ocular albinism2LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008034HP:0001107Ocular albinism2LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndromeHP:0040281 - Very frequent239
HP:0008034HP:0001107Ocular albinism2LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0008034HP:0001100Heterochromia iridis2MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0008034HP:0001100Heterochromia iridis2MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0008034HP:0001100Heterochromia iridis2MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent91
HP:0008034HP:0001100Heterochromia iridis2MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0008034HP:0001107Ocular albinism2MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008034HP:0001100Heterochromia iridis2OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0008034HP:0001100Heterochromia iridis2PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040281 - Very frequent59
HP:0008034HP:0001100Heterochromia iridis2PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0008034HP:0001100Heterochromia iridis2PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0008034HP:0001107Ocular albinism2PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008034HP:0001100Heterochromia iridis2PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0008034HP:0001107Ocular albinism2PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0008034HP:0001107Ocular albinism2PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008034HP:0001100Heterochromia iridis2PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0008034HP:0001100Heterochromia iridis2PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040282 - Frequent948
HP:0008034HP:0001107Ocular albinism2RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0008034HP:0001100Heterochromia iridis2SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0008034HP:0001107Ocular albinism2SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0008034HP:0001107Ocular albinism2SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0008034HP:0001100Heterochromia iridis2SNAI2 CL E G H659111094OMIM:172800Piebald trait.19
HP:0008034HP:0001100Heterochromia iridis2SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040283 - Occasional19
HP:0008034HP:0001100Heterochromia iridis2SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent19
HP:0008034HP:0001100Heterochromia iridis2SNAI2 CL E G H659111094OMIM:608890Waardenburg syndrome, type 2D.19
HP:0008034HP:0001100Heterochromia iridis2SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0008034HP:0001100Heterochromia iridis2SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040281 - Very frequent61
HP:0008034HP:0001100Heterochromia iridis2SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent61
HP:0008034HP:0001100Heterochromia iridis2SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0008034HP:0001107Ocular albinism2SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2EHP:0040283 - Occasional61
HP:0008034HP:0001100Heterochromia iridis2SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C.61
HP:0008034HP:0001107Ocular albinism2SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0008034HP:0001107Ocular albinism2TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0008034HP:0001107Ocular albinism2TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0008034HP:0001100Heterochromia iridis2TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2HP:0040282 - Frequent146
HP:0008034HP:0001107Ocular albinism2UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008034HP:0007818Central heterochromia3AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0008034HP:0007818Central heterochromia3CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0008034HP:0009781Lester's sign3LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0008034HP:0009781Lester's sign3LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0008034HP:0007818Central heterochromia3MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0008034HP:0007818Central heterochromia3PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0008034HP:0007818Central heterochromia3PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0008034HP:0007818Central heterochromia3SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86


Genes (139) :ACTB ACTG1 ADGRV1 AKT1 AP3B1 AP3D1 ARSG ATP10A BAZ1B BCL7B BEST1 BLOC1S3 BLOC1S5 BLOC1S6 BUD23 C1QTNF5 CASZ1 CDH23 CEP78 CHN1 CHRDL1 CIB2 CLIP2 CLRN1 COL18A1 CPAMD8 DCT DNAJC30 DTNBP1 EDN3 EDNRB EIF4H ELN ELP1 EPG5 ESPN FKBP6 GABRD GATA1 GNAQ GPR143 GTF2I GTF2IRD1 GTF2IRD2 HARS1 HERC2 HPS1 HPS4 HPS5 HPS6 HRAS HSPG2 IMPG1 IMPG2 IPW KANSL1 KCNAB2 KIT KITLG LIMK1 LMX1B LUZP1 LYST MAFB MAGEL2 MAPK1 MC1R METTL27 MITF MKRN3 MKRN3-AS1 MLPH MLXIPL MMP23B MYH11 MYO5A MYO7A NCF1 NDN NPAP1 OCA2 PAX3 PCDH15 PDE4D PDPN PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PITX2 PNPLA6 PRDM16 PRKAR1A PRKCZ PRPH2 PRR12 PTEN PWAR1 PWRN1 RAB27A RERE RFC2 RLIM SALL4 SKI SLC24A5 SLC45A2 SNAI2 SNORD115-1 SNORD116-1 SNRPN SOS1 SOX10 SPEN STX1A TBL2 TMEM270 TP63 TRNS2 TYR TYRP1 UBE3A UBE4B USH1C USH1G USH2A VPS37D WHRN XYLT2

Diseases (96) :ORPHA:2995 ORPHA:231178 ORPHA:744 OMIM:608233 OMIM:617050 ORPHA:1000 ORPHA:54 ORPHA:231183 ORPHA:411515 ORPHA:904 ORPHA:99000 OMIM:614077 OMIM:619172 OMIM:614171 ORPHA:67042 ORPHA:1606 ORPHA:231169 ORPHA:233 OMIM:309300 OMIM:267750 OMIM:617319 OMIM:619165 OMIM:614076 OMIM:613265 ORPHA:895 OMIM:277580 OMIM:194050 ORPHA:1764 OMIM:242840 OMIM:190685 ORPHA:3205 OMIM:300500 OMIM:615516 OMIM:176270 OMIM:203300 OMIM:614073 OMIM:614074 OMIM:614075 ORPHA:79414 OMIM:610443 OMIM:172800 ORPHA:2884 OMIM:619947 ORPHA:2614 OMIM:161200 ORPHA:352723 ORPHA:167 OMIM:214500 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:619087 OMIM:203200 ORPHA:79432 OMIM:103500 OMIM:193510 ORPHA:79478 OMIM:132900 ORPHA:79476 ORPHA:98794 ORPHA:894 OMIM:193500 OMIM:148820 OMIM:614613 ORPHA:280651 OMIM:214100 ORPHA:912 OMIM:614866 OMIM:214110 OMIM:137600 OMIM:275400 OMIM:101800 OMIM:619539 ORPHA:2969 ORPHA:79477 OMIM:300978 ORPHA:370097 OMIM:606574 ORPHA:79435 OMIM:608890 OMIM:105830 ORPHA:177907 OMIM:610733 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:613266 OMIM:604292 OMIM:203100 ORPHA:79431 ORPHA:79434 ORPHA:79433 ORPHA:411511 ORPHA:98795 ORPHA:85194
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.