Human Phenotype Ontology

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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:
Hypopigmentation of hair (HP:0005599)

Parent Node:
Generalized hypopigmentation of hair (HP:0011358)

..Starting node
..White hair (HP:0011364)

Term ID:

11364

Name:

White hair

Synonym:

White hair

Definition:

Hypopigmented hair that appears white.

Comments:

Reference:

HP:0011364

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fair hair (HP:0002286)

Silver-gray hair (HP:0002218)

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:0011364	HP:0011364	White hair	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0011364	HP:0011364	White hair	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0011364	HP:0011364	White hair	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0011364	HP:0011364	White hair	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0011364	HP:0011364	White hair	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0011364	HP:0011364	White hair	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent	35
HP:0011364	HP:0011364	White hair	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0011364	HP:0011364	White hair	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0011364	HP:0011364	White hair	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0011364	HP:0011364	White hair	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121
HP:0011364	HP:0011364	White hair	0	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent	3
HP:0011364	HP:0011364	White hair	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0011364	HP:0011364	White hair	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0011364	HP:0011364	White hair	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040282 - Frequent	59
HP:0011364	HP:0011364	White hair	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0011364	HP:0011364	White hair	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent	42
HP:0011364	HP:0011364	White hair	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0011364	HP:0011364	White hair	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0011364	HP:0011364	White hair	0	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent	1
HP:0011364	HP:0011364	White hair	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0011364	HP:0011364	White hair	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0011364	HP:0011364	White hair	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0011364	HP:0011364	White hair	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0011364	HP:0011364	White hair	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40

Genes (23) :CTC1 DKC1 GNPTAB KITLG MC1R MYO5A NHP2 NOP10 NPM1 OCA2 PADI3 PARN PAX3 RTEL1 SLC45A2 TERC TERT TGM3 TINF2 TYMS TYR USB1 WRAP53

Diseases (10) :ORPHA:1775 ORPHA:576 OMIM:619947 ORPHA:79432 ORPHA:79476 ORPHA:1410 ORPHA:894 ORPHA:896 ORPHA:79435 OMIM:203100

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

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