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:
Abnormality of hair pigmentation (HP:0009887)

Parent Node:
Hypopigmentation of hair (HP:0005599)

..Starting node
..Generalized hypopigmentation of hair (HP:0011358)

Term ID:

11358

Name:

Generalized hypopigmentation of hair

Synonym:

Generalised hypopigmentation of hair

Definition:

Reduced pigmentation of hair diffusely.

Comments:

Reference:

HP:0011358

Genes and Diseases:

Child Nodes:

........

Silver-gray hair (HP:0002218)

........

Fair hair (HP:0002286)

........

White hair (HP:0011364)

Sister Nodes:

Albinism (HP:0001022)

Patchy hypopigmentation of hair (HP:0011365)

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:0011358	HP:0011358	Generalized hypopigmentation of hair	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8		8
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3		7
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1		35
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1		35
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome		3
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome		1
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040282 - Frequent	62
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0011358	HP:0011358	Generalized hypopigmentation of hair	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0011358	HP:0002286	Fair hair	1	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0011358	HP:0002286	Fair hair	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011358	HP:0002286	Fair hair	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011358	HP:0011364	White hair	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0011358	HP:0011364	White hair	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0011358	HP:0002218	Silver-gray hair	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040283 - Occasional	13
HP:0011358	HP:0011364	White hair	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0011358	HP:0002286	Fair hair	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0011358	HP:0002286	Fair hair	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0011358	HP:0002286	Fair hair	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0011358	HP:0002286	Fair hair	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0011358	HP:0011364	White hair	1	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0011358	HP:0002286	Fair hair	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	.	8
HP:0011358	HP:0002218	Silver-gray hair	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011358	HP:0011364	White hair	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0011358	HP:0002218	Silver-gray hair	1	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3	.	7
HP:0011358	HP:0002286	Fair hair	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0011358	HP:0011364	White hair	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent	35
HP:0011358	HP:0002218	Silver-gray hair	1	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.	35
HP:0011358	HP:0011364	White hair	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0011358	HP:0011364	White hair	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0011358	HP:0011364	White hair	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0011358	HP:0011364	White hair	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121
HP:0011358	HP:0011364	White hair	1	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent	3
HP:0011358	HP:0011364	White hair	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0011358	HP:0011364	White hair	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0011358	HP:0011364	White hair	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040282 - Frequent	59
HP:0011358	HP:0002286	Fair hair	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0011358	HP:0002286	Fair hair	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional	113
HP:0011358	HP:0002286	Fair hair	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0011358	HP:0002286	Fair hair	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional	134
HP:0011358	HP:0002218	Silver-gray hair	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0011358	HP:0002286	Fair hair	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0011358	HP:0011364	White hair	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0011358	HP:0002286	Fair hair	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0011358	HP:0011364	White hair	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent	42
HP:0011358	HP:0002286	Fair hair	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0011358	HP:0002286	Fair hair	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0011358	HP:0011364	White hair	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0011358	HP:0011364	White hair	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0011358	HP:0011364	White hair	1	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent	1
HP:0011358	HP:0011364	White hair	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0011358	HP:0002286	Fair hair	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0011358	HP:0002286	Fair hair	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0011358	HP:0011364	White hair	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0011358	HP:0011364	White hair	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0011358	HP:0002286	Fair hair	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0011358	HP:0002286	Fair hair	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0011358	HP:0011364	White hair	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0011358	HP:0011364	White hair	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40

Genes (46) :ABCA2 ACD AP3B1 BLOC1S5 CTC1 DKC1 DSTYK GNPTAB IFT140 KANSL1 KITLG LPAR6 LYST MC1R MLPH MOGS MYO5A NHP2 NOP10 NPM1 OCA2 PADI3 PARN PAX3 PDE4D PIGN PRKAR1A RAB27A RMRP RTEL1 SLC17A5 SLC45A2 SNRPN TAFAZZIN TERC TERT TGM3 TINF2 TP63 TYMS TYR TYRP1 UBE3A UBR1 USB1 WRAP53

Diseases (36) :OMIM:618808 ORPHA:3322 OMIM:608233 OMIM:619172 ORPHA:1775 ORPHA:101003 ORPHA:576 OMIM:266920 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619947 OMIM:278150 OMIM:214500 ORPHA:79432 OMIM:609227 ORPHA:79330 ORPHA:79476 OMIM:214450 ORPHA:1410 ORPHA:894 ORPHA:896 OMIM:614613 ORPHA:280651 ORPHA:280633 OMIM:607624 OMIM:250250 OMIM:269920 ORPHA:79435 OMIM:105830 OMIM:302060 OMIM:103285 OMIM:604292 OMIM:203100 ORPHA:79433 OMIM:243800

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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