Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Grandparent Node:
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Abnormal uvea morphology (HP:0000553)help
Parent Node:
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Abnormality iris morphology (HP:0000525)help
..Starting node
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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008034HP:0008034Abnormal iris pigmentation0MYH11 CL E G H4629132900Aortic aneurysm, familial thoracic 4132900C1851504OMIM16919907569160745
HP:0008034HP:0008034Abnormal iris pigmentation0SLC24A5 CL E G H283652370097ORPHA1264020611609802
HP:0008034HP:0008034Abnormal iris pigmentation1MYH11 CL E G H4629132900Aortic aneurysm, familial thoracic 4132900C1851504OMIM16919907569160745
HP:0008034HP:0008034Abnormal iris pigmentation1SLC24A5 CL E G H283652370097ORPHA1264020611609802
HP:0008034HP:0008034Abnormal iris pigmentation2MYH11 CL E G H4629132900Aortic aneurysm, familial thoracic 4132900C1851504OMIM16919907569160745
HP:0008034HP:0008034Abnormal iris pigmentation2SLC24A5 CL E G H283652370097ORPHA1264020611609802
HP:0008034HP:0008034Abnormal iris pigmentation3MYH11 CL E G H4629132900Aortic aneurysm, familial thoracic 4132900C1851504OMIM16919907569160745
HP:0008034HP:0008034Abnormal iris pigmentation3SLC24A5 CL E G H283652370097ORPHA1264020611609802
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (119) :ACTB ACTG1 ADGRV1 AKT1 AMACR AP3B1 AP3D1 ARSG ASPA BAZ1B BEST1 BLOC1S3 BLOC1S6 BTD CDH23 CEP78 CHN1 CIB2 CLIP2 CLRN1 COL25A1 CPAMD8 DTNBP1 EDN3 EDNRB ELN ELP1 EPG5 FOXE3 GABRD GATA1 GNAQ GPR143 GTF2I GTF2IRD1 HARS HERC2 HPS1 HPS4 HPS5 HPS6 IMPG1 IMPG2 IPW KCNAB2 KIT KITLG LIMK1 LMX1B LYST MAFB MAGEL2 MC1R MITF MKRN3 MKRN3-AS1 MLPH MLXIPL MYH11 MYO5A MYO7A NDN NPAP1 OCA2 PAH PAX3 PCDH15 PCYT1A PDE4D PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PITX2 PITX3 PMPCA PNPLA6 PRDM16 PRKAR1A PRPH2 PTEN PWAR1 PWRN1 RAB27A RERE RFC2 SKI SLC24A5 SLC45A2 SLC52A2 SLC52A3 SNAI2 SNORD115-1 SNORD116-1 SNRPN SOS1 SOX10 TBL2 TP63 TRNS2 TYR TYRP1 UBE3A UROC1 USH1C USH1G USH2A WHRN XYLT2

Diseases (85) :132900 370097 231178 79095 231183 314918 904 99000 79241 231169 617319 613265 277580 194050 88632 190685 615516 176270 167 214500 79432 103500 79478 79476 203200 261600 148820 193500 85167 280651 614613 912 214100 614866 214110 137600 101800 79477 79435 606574 97229 610733 611584 613266 604292 79434 203100 79433 105830 276880 85194 2995 608233 284804 617050 614077 614171 614076 895 1764 242840 1606 3205 54 300500 203300 614073 614074 614075 2884 172800 352723 103470 193510 894 1170 2969 608890 163746 609136 79431 744 233 161200 275400
 

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