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
..Fair hair (HP:0002286)

Term ID:

2286

Name:

Fair hair

Synonym:

Blond hair; Fair hair; Fair hair color; Fair hair colour; Flaxen hair color; Flaxen hair colour; Light colored hair; Light coloured hair; Sandy hair color; Sandy hair colour; Straw colored hair; Straw coloured hair; Towhead (hair color)

Definition:

A lesser degree of hair pigmentation than would otherwise be expected.

Comments:

Reference:

HP:0002286

Genes and Diseases:

Child Nodes:

Sister Nodes:

Silver-gray hair (HP:0002218)

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:0002286	HP:0002286	Fair 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:0002286	HP:0002286	Fair hair	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002286	HP:0002286	Fair hair	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0002286	HP:0002286	Fair hair	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0002286	HP:0002286	Fair hair	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0002286	HP:0002286	Fair hair	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0002286	HP:0002286	Fair hair	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0002286	HP:0002286	Fair hair	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	.	8
HP:0002286	HP:0002286	Fair hair	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0002286	HP:0002286	Fair hair	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0002286	HP:0002286	Fair hair	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional	113
HP:0002286	HP:0002286	Fair hair	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002286	HP:0002286	Fair hair	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional	134
HP:0002286	HP:0002286	Fair hair	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0002286	HP:0002286	Fair hair	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0002286	HP:0002286	Fair hair	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0002286	HP:0002286	Fair hair	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0002286	HP:0002286	Fair hair	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0002286	HP:0002286	Fair hair	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0002286	HP:0002286	Fair hair	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0002286	HP:0002286	Fair hair	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25

Genes (17) :ABCA2 AP3B1 BLOC1S5 IFT140 KANSL1 LPAR6 MOGS PDE4D PIGN PRKAR1A RMRP SLC17A5 SNRPN TAFAZZIN TP63 UBE3A UBR1

Diseases (19) :OMIM:618808 OMIM:608233 OMIM:619172 OMIM:266920 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:278150 ORPHA:79330 OMIM:614613 ORPHA:280651 ORPHA:280633 OMIM:250250 OMIM:269920 OMIM:105830 OMIM:302060 OMIM:103285 OMIM:604292 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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