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:
Generalized hypopigmentation of hair (HP:0011358)

..Starting node
..Silver-gray hair (HP:0002218)

Term ID:

2218

Name:

Silver-gray hair

Synonym:

Silver-gray hair; Silver-gray hair color; Silver-gray hair colour; Silvery-gray hair

Definition:

Hypopigmented hair that appears silver-gray.

Comments:

Reference:

HP:0002218

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fair hair (HP:0002286)

White hair (HP:0011364)

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:0002218	HP:0002218	Silver-gray hair	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040283 - Occasional	13
HP:0002218	HP:0002218	Silver-gray hair	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0002218	HP:0002218	Silver-gray hair	0	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3	.	7
HP:0002218	HP:0002218	Silver-gray hair	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.	35
HP:0002218	HP:0002218	Silver-gray hair	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67

Genes (5) :DSTYK LYST MLPH MYO5A RAB27A

Diseases (5) :ORPHA:101003 OMIM:214500 OMIM:609227 OMIM:214450 OMIM:607624

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