Human Phenotype Ontology

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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:
Hypopigmentation of hair (HP:0005599)

Parent Node:
Patchy hypopigmentation of hair (HP:0011365)

..Starting node
..Poliosis (HP:0002290)

Term ID:

2290

Name:

Poliosis

Synonym:

Patch of white hair; White patch

Definition:

Circumscribed depigmentation of the hair of the head or the eyelashes.

Comments:

Reference:

HP:0002290

Genes and Diseases:

Child Nodes:

Sister Nodes:

White forelock (HP:0002211)

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:0002290	HP:0002290	Poliosis	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	59
HP:0002290	HP:0002290	Poliosis	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	3
HP:0002290	HP:0002290	Poliosis	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6

Genes (3) :FAS PTPN22 TMCO1

Diseases (2) :ORPHA:3437 OMIM:213980

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