Human Phenotype Ontology 
Grandparent Node:
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Abnormality iris morphology (HP:0000525)help
Parent Node:
expand
Abnormal iris pigmentation (HP:0008034)help
..Starting node
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Iris hypopigmentation (HP:0007730)help
Term ID: 7730
Name: Iris hypopigmentation
Synonym: Light eye color; Reduced iris pigmentation
Definition: An abnormal reduction in the amount of pigmentation of the iris.
Comments:
Reference: HP:0007730
Genes and Diseases:
 
       Child Nodes:
........expandOcular albinism (HP:0001107) help

 Sister Nodes: 
..expandAsymmetry of iris pigmentation (HP:0200064) help
..expandBlue irides (HP:0000635) help
..expandBrushfield spots (HP:0001088) help
..expandIris pigment dispersion (HP:0012634) help
..expandIris transillumination defect (HP:0012805) help
..expandStellate iris (HP:0012775) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007730HP:0007730Iris hypopigmentation0ADGRV1 CL E G H84059231178ORPHA1249147917416602851
HP:0007730HP:0007730Iris hypopigmentation0ARSG CL E G H22901231183ORPHA137324102610008
HP:0007730HP:0007730Iris hypopigmentation0BEST1 CL E G H743999000ORPHA131935412703607854
HP:0007730HP:0007730Iris hypopigmentation0CDH23 CL E G H64072231169ORPHA1361143713733605516
HP:0007730HP:0007730Iris hypopigmentation0CEP78 CL E G H84131231183ORPHA11015525740617110
HP:0007730HP:0007730Iris hypopigmentation0CIB2 CL E G H10518231169ORPHA1186524579605564
HP:0007730HP:0007730Iris hypopigmentation0CLRN1 CL E G H7401231183ORPHA13917512605606397
HP:0007730HP:0007730Iris hypopigmentation0HARS CL E G H3035231183ORPHA1134816142810
HP:0007730HP:0007730Iris hypopigmentation0IMPG1 CL E G H361799000ORPHA1111106055602870
HP:0007730HP:0007730Iris hypopigmentation0IMPG2 CL E G H5093999000ORPHA14234618362607056
HP:0007730HP:0007730Iris hypopigmentation0LYST CL E G H1130167ORPHA11028071968606897
HP:0007730HP:0007730Iris hypopigmentation0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0007730HP:0007730Iris hypopigmentation0MC1R CL E G H415779432ORPHA11093326929155555
HP:0007730HP:0007730Iris hypopigmentation0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0007730HP:0007730Iris hypopigmentation0MYO5A CL E G H464479476ORPHA1121167602160777
HP:0007730HP:0007730Iris hypopigmentation0MYO7A CL E G H4647231178ORPHA152712577606276903
HP:0007730HP:0007730Iris hypopigmentation0MYO7A CL E G H4647231169ORPHA152712577606276903
HP:0007730HP:0007730Iris hypopigmentation0OCA2 CL E G H494879432ORPHA13165388101611409
HP:0007730HP:0007730Iris hypopigmentation0PCDH15 CL E G H65217231169ORPHA1122104914674605514
HP:0007730HP:0007730Iris hypopigmentation0PCYT1A CL E G H513085167ORPHA1201438754123695
HP:0007730HP:0007730Iris hypopigmentation0PDZD7 CL E G H79955231178ORPHA11920526257612971
HP:0007730HP:0007730Iris hypopigmentation0PITX2 CL E G H5308137600Iridogoniodysgenesis, dominant type137600C1842031OMIM11041369005601542
HP:0007730HP:0007730Iris hypopigmentation0PRPH2 CL E G H596199000ORPHA11813449942179605
HP:0007730HP:0007730Iris hypopigmentation0SLC45A2 CL E G H5115179435ORPHA116112416472606202
HP:0007730HP:0007730Iris hypopigmentation0TYR CL E G H729979434ORPHA144522612442606933
HP:0007730HP:0007730Iris hypopigmentation0TYRP1 CL E G H730679433ORPHA15623012450115501
HP:0007730HP:0007730Iris hypopigmentation0USH1C CL E G H10083231169ORPHA15147712597605242
HP:0007730HP:0007730Iris hypopigmentation0USH1G CL E G H124590231169ORPHA13217116356607696
HP:0007730HP:0007730Iris hypopigmentation0USH2A CL E G H7399231178ORPHA11234235412601608400
HP:0007730HP:0007730Iris hypopigmentation0WHRN CL E G H25861231178ORPHA13234816361607928
HP:0007730HP:0007730Iris hypopigmentation0XYLT2 CL E G H6413285194ORPHA1135715517608125
HP:0007730HP:0007730Iris hypopigmentation1ADGRV1 CL E G H84059231178ORPHA1249147917416602851
HP:0007730HP:0007730Iris hypopigmentation1ARSG CL E G H22901231183ORPHA137324102610008
HP:0007730HP:0007730Iris hypopigmentation1BEST1 CL E G H743999000ORPHA131935412703607854
HP:0007730HP:0007730Iris hypopigmentation1CDH23 CL E G H64072231169ORPHA1361143713733605516
HP:0007730HP:0007730Iris hypopigmentation1CEP78 CL E G H84131231183ORPHA11015525740617110
HP:0007730HP:0007730Iris hypopigmentation1CIB2 CL E G H10518231169ORPHA1186524579605564
HP:0007730HP:0007730Iris hypopigmentation1CLRN1 CL E G H7401231183ORPHA13917512605606397
HP:0007730HP:0007730Iris hypopigmentation1HARS CL E G H3035231183ORPHA1134816142810
HP:0007730HP:0007730Iris hypopigmentation1IMPG1 CL E G H361799000ORPHA1111106055602870
HP:0007730HP:0007730Iris hypopigmentation1IMPG2 CL E G H5093999000ORPHA14234618362607056
HP:0007730HP:0007730Iris hypopigmentation1LYST CL E G H1130167ORPHA11028071968606897
HP:0007730HP:0007730Iris hypopigmentation1LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0007730HP:0007730Iris hypopigmentation1MC1R CL E G H415779432ORPHA11093326929155555
HP:0007730HP:0007730Iris hypopigmentation1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0007730HP:0007730Iris hypopigmentation1MYO5A CL E G H464479476ORPHA1121167602160777
HP:0007730HP:0007730Iris hypopigmentation1MYO7A CL E G H4647231178ORPHA152712577606276903
HP:0007730HP:0007730Iris hypopigmentation1MYO7A CL E G H4647231169ORPHA152712577606276903
HP:0007730HP:0007730Iris hypopigmentation1OCA2 CL E G H494879432ORPHA13165388101611409
HP:0007730HP:0007730Iris hypopigmentation1PCDH15 CL E G H65217231169ORPHA1122104914674605514
HP:0007730HP:0007730Iris hypopigmentation1PCYT1A CL E G H513085167ORPHA1201438754123695
HP:0007730HP:0007730Iris hypopigmentation1PDZD7 CL E G H79955231178ORPHA11920526257612971
HP:0007730HP:0007730Iris hypopigmentation1PITX2 CL E G H5308137600Iridogoniodysgenesis, dominant type137600C1842031OMIM11041369005601542
HP:0007730HP:0007730Iris hypopigmentation1PRPH2 CL E G H596199000ORPHA11813449942179605
HP:0007730HP:0007730Iris hypopigmentation1SLC45A2 CL E G H5115179435ORPHA116112416472606202
HP:0007730HP:0007730Iris hypopigmentation1TYR CL E G H729979434ORPHA144522612442606933
HP:0007730HP:0007730Iris hypopigmentation1TYRP1 CL E G H730679433ORPHA15623012450115501
HP:0007730HP:0007730Iris hypopigmentation1USH1C CL E G H10083231169ORPHA15147712597605242
HP:0007730HP:0007730Iris hypopigmentation1USH1G CL E G H124590231169ORPHA13217116356607696
HP:0007730HP:0007730Iris hypopigmentation1USH2A CL E G H7399231178ORPHA11234235412601608400
HP:0007730HP:0007730Iris hypopigmentation1WHRN CL E G H25861231178ORPHA13234816361607928
HP:0007730HP:0007730Iris hypopigmentation1XYLT2 CL E G H6413285194ORPHA1135715517608125
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007730HP:0007730Iris hypopigmentation0AMACR CL E G H2360079095ORPHA014147451604489
HP:0007730HP:0007730Iris hypopigmentation0ASPA CL E G H443314918ORPHA0102177756608034
HP:0007730HP:0007730Iris hypopigmentation0BTD CL E G H68679241ORPHA02483711122609019
HP:0007730HP:0007730Iris hypopigmentation0FOXE3 CL E G H230188632ORPHA031863808601094
HP:0007730HP:0007730Iris hypopigmentation0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM064824868605837
HP:0007730HP:0007730Iris hypopigmentation0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03116109601491
HP:0007730HP:0007730Iris hypopigmentation0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM0204536814605283
HP:0007730HP:0007730Iris hypopigmentation0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM0323317114603856
HP:0007730HP:0007730Iris hypopigmentation0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0007730HP:0007730Iris hypopigmentation0MLPH CL E G H7908379478ORPHA0910929643606526
HP:0007730HP:0007730Iris hypopigmentation0MYO5A CL E G H464479478ORPHA0121167602160777
HP:0007730HP:0007730Iris hypopigmentation0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM023147675602117
HP:0007730HP:0007730Iris hypopigmentation0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03431190610922
HP:0007730HP:0007730Iris hypopigmentation0PITX3 CL E G H530988632ORPHA015299006602669
HP:0007730HP:0007730Iris hypopigmentation0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031130089600161
HP:0007730HP:0007730Iris hypopigmentation0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032233235611215
HP:0007730HP:0007730Iris hypopigmentation0RAB27A CL E G H587379477ORPHA0541769766603868
HP:0007730HP:0007730Iris hypopigmentation0SLC52A2 CL E G H7958197229ORPHA02726030224607882
HP:0007730HP:0007730Iris hypopigmentation0SLC52A3 CL E G H11327897229ORPHA04424316187613350
HP:0007730HP:0007730Iris hypopigmentation0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031333020609837
HP:0007730HP:0007730Iris hypopigmentation0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM031433067605436
HP:0007730HP:0007730Iris hypopigmentation0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM02538511164182279
HP:0007730HP:0007730Iris hypopigmentation1AMACR CL E G H2360079095ORPHA014147451604489
HP:0007730HP:0007730Iris hypopigmentation1ASPA CL E G H443314918ORPHA0102177756608034
HP:0007730HP:0007730Iris hypopigmentation1BTD CL E G H68679241ORPHA02483711122609019
HP:0007730HP:0007730Iris hypopigmentation1FOXE3 CL E G H230188632ORPHA031863808601094
HP:0007730HP:0007730Iris hypopigmentation1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM064824868605837
HP:0007730HP:0007730Iris hypopigmentation1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03116109601491
HP:0007730HP:0007730Iris hypopigmentation1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM0204536814605283
HP:0007730HP:0007730Iris hypopigmentation1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM0323317114603856
HP:0007730HP:0007730Iris hypopigmentation1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0007730HP:0007730Iris hypopigmentation1MLPH CL E G H7908379478ORPHA0910929643606526
HP:0007730HP:0007730Iris hypopigmentation1MYO5A CL E G H464479478ORPHA0121167602160777
HP:0007730HP:0007730Iris hypopigmentation1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM023147675602117
HP:0007730HP:0007730Iris hypopigmentation1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03431190610922
HP:0007730HP:0007730Iris hypopigmentation1PITX3 CL E G H530988632ORPHA015299006602669
HP:0007730HP:0007730Iris hypopigmentation1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031130089600161
HP:0007730HP:0007730Iris hypopigmentation1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032233235611215
HP:0007730HP:0007730Iris hypopigmentation1RAB27A CL E G H587379477ORPHA0541769766603868
HP:0007730HP:0007730Iris hypopigmentation1SLC52A2 CL E G H7958197229ORPHA02726030224607882
HP:0007730HP:0007730Iris hypopigmentation1SLC52A3 CL E G H11327897229ORPHA04424316187613350
HP:0007730HP:0007730Iris hypopigmentation1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031333020609837
HP:0007730HP:0007730Iris hypopigmentation1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM031433067605436
HP:0007730HP:0007730Iris hypopigmentation1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM02538511164182279


Genes (70) :ADGRV1 AMACR AP3B1 AP3D1 ARSG ASPA BEST1 BLOC1S3 BLOC1S6 BTD CDH23 CEP78 CIB2 CLRN1 DTNBP1 EPG5 FOXE3 GABRD GPR143 HARS HERC2 HPS1 HPS4 HPS5 HPS6 IMPG1 IMPG2 IPW KCNAB2 LYST MAGEL2 MC1R MITF MKRN3 MKRN3-AS1 MLPH MT-TS2 MYO5A MYO7A NDN NPAP1 OCA2 PCDH15 PCYT1A PDZD7 PITX2 PITX3 PMPCA PRDM16 PRPH2 PWAR1 PWRN1 RAB27A RERE SKI SLC45A2 SLC52A2 SLC52A3 SNORD115-1 SNORD116-1 SNRPN SOX10 TRNS2 TYR TYRP1 USH1C USH1G USH2A WHRN XYLT2

Diseases (42) :231178 79095 231183 314918 99000 79241 231169 88632 176270 167 214500 79432 79478 79476 85167 137600 79477 79435 97229 79434 79433 85194 608233 284804 617050 614077 614171 614076 242840 1606 54 300500 203300 614073 614074 614075 352723 103470 1170 611584 79431 203100
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.