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:
Abnormal hair morphology (HP:0001595)

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

..Starting node
..Red hair (HP:0002297)

Term ID:

2297

Name:

Red hair

Synonym:

Ginger hair color; Ginger hair colour; Red hair; Red hair color; Red hair colour; Red head (hair color)

Definition:

Comments:

Reference:

HP:0002297

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypopigmentation of hair (HP:0005599)

Melanin pigment aggregation in hair shafts (HP:0002220)

Premature graying of hair (HP:0002216)

White eyebrow (HP:0002226)

White eyelashes (HP:0002227)

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:0002297	HP:0002297	Red hair	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.	124
HP:0002297	HP:0002297	Red hair	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.	121
HP:0002297	HP:0002297	Red hair	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent	65
HP:0002297	HP:0002297	Red hair	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0002297	HP:0002297	Red hair	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional	113
HP:0002297	HP:0002297	Red hair	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent	27
HP:0002297	HP:0002297	Red hair	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0002297	HP:0002297	Red hair	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional	134
HP:0002297	HP:0002297	Red hair	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.	134
HP:0002297	HP:0002297	Red hair	0	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III	.	62
HP:0002297	HP:0002297	Red hair	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040282 - Frequent	62
HP:0002297	HP:0002297	Red hair	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397

Genes (8) :MC1R OCA2 PCSK1 PDE4D POMC PRKAR1A TYRP1 ZNF469

Diseases (10) :OMIM:203200 ORPHA:71528 OMIM:614613 ORPHA:280651 ORPHA:71526 OMIM:609734 OMIM:160980 OMIM:203290 ORPHA:79433 OMIM:229200

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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