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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Abnormality of hair pigmentation (HP:0009887)

Parent Node:
Prematurely aged appearance (HP:0007495)

..Starting node
..Premature graying of hair (HP:0002216)

Term ID:

2216

Name:

Premature graying of hair

Synonym:

Early graying; Early greying; Premature graying; Premature graying of hair; Premature graying of the hair; Premature greying; Premature greying of hair; Premature greying of the hair; Premature hair graying; Premature hair greying

Definition:

Development of gray hair at a younger than normal age.

Comments:

Reference:

HP:0002216

Genes and Diseases:

Child Nodes:

........

Premature graying of body hair (HP:0004771)

Sister Nodes:

Aged leonine appearance (HP:0008509)

Premature skin wrinkling (HP:0100678)

Progeroid facial appearance (HP:0005328)

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:0002216	HP:0002216	Premature graying of hair	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0002216	HP:0002216	Premature graying of hair	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0002216	HP:0002216	Premature graying of hair	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent	8
HP:0002216	HP:0002216	Premature graying of hair	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0002216	HP:0002216	Premature graying of hair	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0002216	HP:0002216	Premature graying of hair	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0002216	HP:0002216	Premature graying of hair	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0002216	HP:0002216	Premature graying of hair	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0002216	HP:0002216	Premature graying of hair	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0002216	HP:0002216	Premature graying of hair	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	67
HP:0002216	HP:0002216	Premature graying of hair	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	55
HP:0002216	HP:0002216	Premature graying of hair	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	55
HP:0002216	HP:0002216	Premature graying of hair	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0002216	HP:0002216	Premature graying of hair	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002216	HP:0002216	Premature graying of hair	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0002216	HP:0002216	Premature graying of hair	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0002216	HP:0002216	Premature graying of hair	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	59
HP:0002216	HP:0002216	Premature graying of hair	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0002216	HP:0002216	Premature graying of hair	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0002216	HP:0002216	Premature graying of hair	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	9
HP:0002216	HP:0002216	Premature graying of hair	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0002216	HP:0002216	Premature graying of hair	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0002216	HP:0002216	Premature graying of hair	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002216	HP:0002216	Premature graying of hair	0	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB		1
HP:0002216	HP:0002216	Premature graying of hair	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	91
HP:0002216	HP:0002216	Premature graying of hair	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0002216	HP:0002216	Premature graying of hair	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	91
HP:0002216	HP:0002216	Premature graying of hair	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002216	HP:0002216	Premature graying of hair	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	HP:0040283 - Occasional	85
HP:0002216	HP:0002216	Premature graying of hair	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent	35
HP:0002216	HP:0002216	Premature graying of hair	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040281 - Very frequent	35
HP:0002216	HP:0002216	Premature graying of hair	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0002216	HP:0002216	Premature graying of hair	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0002216	HP:0002216	Premature graying of hair	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0002216	HP:0002216	Premature graying of hair	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0002216	HP:0002216	Premature graying of hair	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0002216	HP:0002216	Premature graying of hair	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0002216	HP:0002216	Premature graying of hair	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent	59
HP:0002216	HP:0002216	Premature graying of hair	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0002216	HP:0002216	Premature graying of hair	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0002216	HP:0002216	Premature graying of hair	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002216	HP:0002216	Premature graying of hair	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	3
HP:0002216	HP:0002216	Premature graying of hair	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent	67
HP:0002216	HP:0002216	Premature graying of hair	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0002216	HP:0002216	Premature graying of hair	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0002216	HP:0002216	Premature graying of hair	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0002216	HP:0002216	Premature graying of hair	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0002216	HP:0002216	Premature graying of hair	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0002216	HP:0002216	Premature graying of hair	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	19
HP:0002216	HP:0002216	Premature graying of hair	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent	61
HP:0002216	HP:0002216	Premature graying of hair	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	61
HP:0002216	HP:0002216	Premature graying of hair	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0002216	HP:0002216	Premature graying of hair	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.	61
HP:0002216	HP:0002216	Premature graying of hair	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	61
HP:0002216	HP:0002216	Premature graying of hair	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0002216	HP:0002216	Premature graying of hair	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0002216	HP:0002216	Premature graying of hair	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0002216	HP:0002216	Premature graying of hair	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0002216	HP:0002216	Premature graying of hair	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0002216	HP:0002216	Premature graying of hair	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0002216	HP:0002216	Premature graying of hair	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0002216	HP:0002216	Premature graying of hair	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0002216	HP:0002216	Premature graying of hair	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0002216	HP:0002216	Premature graying of hair	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0002216	HP:0002216	Premature graying of hair	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0002216	HP:0002216	Premature graying of hair	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0002216	HP:0002216	Premature graying of hair	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0002216	HP:0002216	Premature graying of hair	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0002216	HP:0002216	Premature graying of hair	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0002216	HP:0002216	Premature graying of hair	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0002216	HP:0002216	Premature graying of hair	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	146
HP:0002216	HP:0002216	Premature graying of hair	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0002216	HP:0002216	Premature graying of hair	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0002216	HP:0002216	Premature graying of hair	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310
HP:0002216	HP:0002216	Premature graying of hair	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002216	HP:0004771	Premature graying of body hair	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13

Genes (45) :ACD ATM BRCC3 CTC1 DKC1 DSTYK EDN3 EDNRB ELN ERCC6 ERCC8 FAS INSR KITLG LMNA MDM2 MITF MLXIPL MTAP MYO5A NHP2 NOP10 NPM1 PARN PAX3 PSMB8 PTPN22 RAB27A RECQL4 RPA1 RTEL1 SLC5A6 SNAI2 SOX10 STN1 TERC TERT TFAP2A TINF2 TYMS TYR USB1 WRAP53 WRN ZNF699

Diseases (45) :ORPHA:3322 ORPHA:100 ORPHA:280679 ORPHA:1775 OMIM:305000 OMIM:270750 OMIM:613265 ORPHA:897 ORPHA:895 OMIM:277580 OMIM:194050 ORPHA:90324 ORPHA:3437 ORPHA:769 OMIM:619947 ORPHA:79474 ORPHA:280365 ORPHA:363618 OMIM:618681 OMIM:193510 OMIM:112250 ORPHA:79476 ORPHA:33445 OMIM:616371 ORPHA:894 OMIM:193500 OMIM:148820 OMIM:256040 ORPHA:79477 OMIM:268400 OMIM:619767 OMIM:619903 ORPHA:163746 OMIM:611584 OMIM:613266 OMIM:617341 OMIM:127550 OMIM:614743 OMIM:613989 OMIM:614742 ORPHA:1297 OMIM:113620 OMIM:613990 ORPHA:902 OMIM:619488

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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