Human Phenotype Ontology 
Grandparent Node:
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Abnormal iris pigmentation (HP:0008034)help
Parent Node:
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Asymmetry of iris pigmentation (HP:0200064)help
..Starting node
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Heterochromia iridis (HP:0001100)help
Term ID: 1100
Name: Heterochromia iridis
Synonym: Different colored eyes; Heterochromia irides
Definition: Heterochromia iridis is a difference in the color of the iris in the two eyes.
Comments:
Reference: HP:0001100
Genes and Diseases:
 
       Child Nodes:
........expandCentral heterochromia (HP:0007818) help
........expandLester's sign (HP:0009781) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001100HP:0001100Heterochromia iridis0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001100HP:0001100Heterochromia iridis0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001100HP:0001100Heterochromia iridis0EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM1211173178131242
HP:0001100HP:0001100Heterochromia iridis0EDNRB CL E G H1910895ORPHA1701913180131244
HP:0001100HP:0001100Heterochromia iridis0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1701913180131244
HP:0001100HP:0001100Heterochromia iridis0KIT CL E G H3815172800Partial albinism172800C0080024OMIM112111046342164920
HP:0001100HP:0001100Heterochromia iridis0KITLG CL E G H4254895ORPHA115406343184745
HP:0001100HP:0001100Heterochromia iridis0MITF CL E G H4286895ORPHA1612407105156845
HP:0001100HP:0001100Heterochromia iridis0MITF CL E G H4286193510Waardenburg syndrome type 2A193510C1860339OMIM1612407105156845
HP:0001100HP:0001100Heterochromia iridis0PAX3 CL E G H5077894ORPHA11531818617606597
HP:0001100HP:0001100Heterochromia iridis0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0001100HP:0001100Heterochromia iridis0PAX3 CL E G H5077193500Waardenburg syndrome type 1193500C1847800OMIM11531818617606597
HP:0001100HP:0001100Heterochromia iridis0PTEN CL E G H57282969ORPHA165820199588601728
HP:0001100HP:0001100Heterochromia iridis0SNAI2 CL E G H6591895ORPHA146811094602150
HP:0001100HP:0001100Heterochromia iridis0SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM146811094602150
HP:0001100HP:0001100Heterochromia iridis0SNAI2 CL E G H6591608890Waardenburg syndrome type 2D608890C1837203OMIM146811094602150
HP:0001100HP:0001100Heterochromia iridis0SOX10 CL E G H6663895ORPHA115119211190602229
HP:0001100HP:0001100Heterochromia iridis0SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0001100HP:0001100Heterochromia iridis0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM115119211190602229
HP:0001100HP:0001100Heterochromia iridis0SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM115119211190602229
HP:0001100HP:0001100Heterochromia iridis0SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM115119211190602229
HP:0001100HP:0001100Heterochromia iridis1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001100HP:0001100Heterochromia iridis1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001100HP:0001100Heterochromia iridis1EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM1211173178131242
HP:0001100HP:0001100Heterochromia iridis1EDNRB CL E G H1910895ORPHA1701913180131244
HP:0001100HP:0001100Heterochromia iridis1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1701913180131244
HP:0001100HP:0001100Heterochromia iridis1KIT CL E G H3815172800Partial albinism172800C0080024OMIM112111046342164920
HP:0001100HP:0001100Heterochromia iridis1KITLG CL E G H4254895ORPHA115406343184745
HP:0001100HP:0001100Heterochromia iridis1MITF CL E G H4286895ORPHA1612407105156845
HP:0001100HP:0001100Heterochromia iridis1MITF CL E G H4286193510Waardenburg syndrome type 2A193510C1860339OMIM1612407105156845
HP:0001100HP:0001100Heterochromia iridis1PAX3 CL E G H5077894ORPHA11531818617606597
HP:0001100HP:0001100Heterochromia iridis1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0001100HP:0001100Heterochromia iridis1PAX3 CL E G H5077193500Waardenburg syndrome type 1193500C1847800OMIM11531818617606597
HP:0001100HP:0001100Heterochromia iridis1PTEN CL E G H57282969ORPHA165820199588601728
HP:0001100HP:0001100Heterochromia iridis1SNAI2 CL E G H6591895ORPHA146811094602150
HP:0001100HP:0001100Heterochromia iridis1SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM146811094602150
HP:0001100HP:0001100Heterochromia iridis1SNAI2 CL E G H6591608890Waardenburg syndrome type 2D608890C1837203OMIM146811094602150
HP:0001100HP:0001100Heterochromia iridis1SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0001100HP:0001100Heterochromia iridis1SOX10 CL E G H6663895ORPHA115119211190602229
HP:0001100HP:0001100Heterochromia iridis1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM115119211190602229
HP:0001100HP:0001100Heterochromia iridis1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM115119211190602229
HP:0001100HP:0001100Heterochromia iridis1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM115119211190602229
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001100HP:0001100Heterochromia iridis0ELP1 CL E G H85181764ORPHA066605959603722
HP:0001100HP:0001100Heterochromia iridis0GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0001100HP:0001100Heterochromia iridis0KIT CL E G H38152884ORPHA012111046342164920
HP:0001100HP:0001100Heterochromia iridis0SNAI2 CL E G H65912884ORPHA046811094602150
HP:0001100HP:0001100Heterochromia iridis1ELP1 CL E G H85181764ORPHA066605959603722
HP:0001100HP:0001100Heterochromia iridis1GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0001100HP:0001100Heterochromia iridis1KIT CL E G H38152884ORPHA012111046342164920
HP:0001100HP:0001100Heterochromia iridis1SNAI2 CL E G H65912884ORPHA046811094602150


Genes (19) :ACTB ACTG1 AKT1 CHN1 COL25A1 EDN3 EDNRB ELP1 GNAQ KIT KITLG LMX1B MAFB MITF PAX3 PNPLA6 PTEN SNAI2 SOX10

Diseases (22) :2995 613265 895 277580 1764 3205 2884 172800 193510 894 148820 193500 2969 608890 163746 609136 611584 613266 744 233 161200 275400
 

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