Human Phenotype Ontology

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:
Asymmetry of iris pigmentation (HP:0200064)

Parent Node:
Heterochromia iridis (HP:0001100)

..Starting node
..Central heterochromia (HP:0007818)

Term ID:

7818

Name:

Central heterochromia

Synonym:

Ring iris heterochromia

Definition:

The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.

Comments:

Reference:

HP:0007818

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lester's sign (HP:0009781)

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:0007818	HP:0007818	Central heterochromia	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0007818	HP:0007818	Central heterochromia	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0007818	HP:0007818	Central heterochromia	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0007818	HP:0007818	Central heterochromia	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.	103
HP:0007818	HP:0007818	Central heterochromia	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0007818	HP:0007818	Central heterochromia	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86

Genes (6) :AKT1 CHN1 MAFB PNPLA6 PTEN SALL4

Diseases (3) :ORPHA:744 ORPHA:233 OMIM:275400

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