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
..Patchy hypopigmentation of hair (HP:0011365)

Term ID:

11365

Name:

Patchy hypopigmentation of hair

Synonym:

Definition:

Reduced pigmentation of hair in patches.

Comments:

Reference:

HP:0011365

Genes and Diseases:

Child Nodes:

........

White forelock (HP:0002211)

........

Poliosis (HP:0002290)

Sister Nodes:

Albinism (HP:0001022)

Generalized hypopigmentation of hair (HP:0011358)

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:0011365	HP:0011365	Patchy hypopigmentation of hair	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B		67
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome		67
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2		55
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome		55
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease		59
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus		113
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait		327
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism		327
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2		9
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2		91
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome		91
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease		3
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait		19
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism		19
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2		19
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2		61
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C		61
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome		61
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2		146
HP:0011365	HP:0011365	Patchy hypopigmentation of hair	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0011365	HP:0002211	White forelock	1	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0011365	HP:0002211	White forelock	1	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	67
HP:0011365	HP:0002211	White forelock	1	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	55
HP:0011365	HP:0002211	White forelock	1	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	55
HP:0011365	HP:0002211	White forelock	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0011365	HP:0002290	Poliosis	1	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	59
HP:0011365	HP:0002211	White forelock	1	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait	.	327
HP:0011365	HP:0002211	White forelock	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040281 - Very frequent	327
HP:0011365	HP:0002211	White forelock	1	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0011365	HP:0002211	White forelock	1	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	9
HP:0011365	HP:0002211	White forelock	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0011365	HP:0002211	White forelock	1	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	91
HP:0011365	HP:0002211	White forelock	1	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0011365	HP:0002211	White forelock	1	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	91
HP:0011365	HP:0002211	White forelock	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0011365	HP:0002211	White forelock	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0011365	HP:0002211	White forelock	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0011365	HP:0002211	White forelock	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent	66
HP:0011365	HP:0002290	Poliosis	1	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	3
HP:0011365	HP:0002211	White forelock	1	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait	.	19
HP:0011365	HP:0002211	White forelock	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040281 - Very frequent	19
HP:0011365	HP:0002211	White forelock	1	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	19
HP:0011365	HP:0002211	White forelock	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0011365	HP:0002211	White forelock	1	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	61
HP:0011365	HP:0002211	White forelock	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0011365	HP:0002211	White forelock	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.	61
HP:0011365	HP:0002211	White forelock	1	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	61
HP:0011365	HP:0002211	White forelock	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0011365	HP:0002211	White forelock	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0011365	HP:0002290	Poliosis	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0011365	HP:0002211	White forelock	1	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	146
HP:0011365	HP:0002211	White forelock	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310

Genes (21) :CHN1 EDN3 EDNRB FAS HRAS KIT KITLG LMNA MAFB MITF PAX3 PEPD PTPN22 SALL4 SNAI2 SOX10 TERT TFAP2A TMCO1 TYR WRN

Diseases (23) :ORPHA:233 OMIM:613265 ORPHA:897 ORPHA:895 OMIM:277580 ORPHA:3437 ORPHA:79414 OMIM:172800 ORPHA:2884 OMIM:619947 ORPHA:79474 OMIM:193510 ORPHA:894 OMIM:193500 OMIM:148820 ORPHA:742 OMIM:609136 OMIM:611584 OMIM:613266 OMIM:613989 OMIM:113620 OMIM:213980 ORPHA:902

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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