Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal iris pigmentation (HP:0008034)

Parent Node:
Asymmetry of iris pigmentation (HP:0200064)

..Starting node
..Heterochromia iridis (HP:0001100)

Term ID:

1100

Name:

Heterochromia iridis

Synonym:

Different colored eyes; Different coloured 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:

........

Central heterochromia (HP:0007818)

........

Lester's sign (HP:0009781)

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001100	HP:0001100	Heterochromia iridis	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0001100	HP:0001100	Heterochromia iridis	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0001100	HP:0001100	Heterochromia iridis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0001100	HP:0001100	Heterochromia iridis	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0001100	HP:0001100	Heterochromia iridis	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0001100	HP:0001100	Heterochromia iridis	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	55
HP:0001100	HP:0001100	Heterochromia iridis	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0001100	HP:0001100	Heterochromia iridis	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional	133
HP:0001100	HP:0001100	Heterochromia iridis	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0001100	HP:0001100	Heterochromia iridis	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus		113
HP:0001100	HP:0001100	Heterochromia iridis	0	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait	.	327
HP:0001100	HP:0001100	Heterochromia iridis	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional	327
HP:0001100	HP:0001100	Heterochromia iridis	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0001100	HP:0001100	Heterochromia iridis	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	9
HP:0001100	HP:0001100	Heterochromia iridis	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001100	HP:0001100	Heterochromia iridis	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0001100	HP:0001100	Heterochromia iridis	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0001100	HP:0001100	Heterochromia iridis	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0001100	HP:0001100	Heterochromia iridis	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	91
HP:0001100	HP:0001100	Heterochromia iridis	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0001100	HP:0001100	Heterochromia iridis	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121
HP:0001100	HP:0001100	Heterochromia iridis	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0001100	HP:0001100	Heterochromia iridis	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0001100	HP:0001100	Heterochromia iridis	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0001100	HP:0001100	Heterochromia iridis	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome		103
HP:0001100	HP:0001100	Heterochromia iridis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0001100	HP:0001100	Heterochromia iridis	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent	948
HP:0001100	HP:0001100	Heterochromia iridis	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0001100	HP:0001100	Heterochromia iridis	0	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait	.	19
HP:0001100	HP:0001100	Heterochromia iridis	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional	19
HP:0001100	HP:0001100	Heterochromia iridis	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	19
HP:0001100	HP:0001100	Heterochromia iridis	0	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D	.	19
HP:0001100	HP:0001100	Heterochromia iridis	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0001100	HP:0001100	Heterochromia iridis	0	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:0001100	HP:0001100	Heterochromia iridis	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	61
HP:0001100	HP:0001100	Heterochromia iridis	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0001100	HP:0001100	Heterochromia iridis	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.	61
HP:0001100	HP:0001100	Heterochromia iridis	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	146
HP:0001100	HP:0007818	Central heterochromia	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0001100	HP:0007818	Central heterochromia	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0001100	HP:0009781	Lester's sign	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0001100	HP:0009781	Lester's sign	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0001100	HP:0007818	Central heterochromia	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0001100	HP:0007818	Central heterochromia	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.	103
HP:0001100	HP:0007818	Central heterochromia	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0001100	HP:0007818	Central heterochromia	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86

Genes (23) :ACTB ACTG1 AKT1 CHN1 EDN3 EDNRB ELP1 GNAQ HRAS KIT KITLG LMX1B MAFB MC1R MITF OCA2 PAX3 PNPLA6 PTEN SALL4 SNAI2 SOX10 TYR

Diseases (26) :ORPHA:2995 ORPHA:744 ORPHA:233 OMIM:613265 ORPHA:895 OMIM:277580 ORPHA:1764 ORPHA:3205 ORPHA:79414 OMIM:172800 ORPHA:2884 OMIM:619947 OMIM:161200 ORPHA:2614 ORPHA:79432 OMIM:193510 ORPHA:894 OMIM:193500 OMIM:148820 OMIM:275400 ORPHA:2969 OMIM:608890 OMIM:609136 ORPHA:163746 OMIM:611584 OMIM:613266

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen