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:
obsolete Abnormality of hair density (HP:0011357)

..Starting node
..Thick hair (HP:0100874)

Term ID:

100874

Name:

Thick hair

Synonym:

Increased follicular density; Increased hair density; Thick hair

Definition:

Increased density of hairs, i.e., and elevated number of hairs per unit area.

Comments:

Reference:

HP:0100874

Genes and Diseases:

Child Nodes:

Sister Nodes:

Sparse hair (HP:0008070)

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:0100874	HP:0100874	Thick hair	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0100874	HP:0100874	Thick hair	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent	6
HP:0100874	HP:0100874	Thick hair	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0100874	HP:0100874	Thick hair	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0100874	HP:0100874	Thick hair	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0100874	HP:0100874	Thick hair	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0100874	HP:0100874	Thick hair	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0100874	HP:0100874	Thick hair	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.	11
HP:0100874	HP:0100874	Thick hair	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0100874	HP:0100874	Thick hair	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional	67
HP:0100874	HP:0100874	Thick hair	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0100874	HP:0100874	Thick hair	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0100874	HP:0100874	Thick hair	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0100874	HP:0100874	Thick hair	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0100874	HP:0100874	Thick hair	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0100874	HP:0100874	Thick hair	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0100874	HP:0100874	Thick hair	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0100874	HP:0100874	Thick hair	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0100874	HP:0100874	Thick hair	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0100874	HP:0100874	Thick hair	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3	.	91
HP:0100874	HP:0100874	Thick hair	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546
HP:0100874	HP:0100874	Thick hair	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1

Genes (19) :AFF4 ASXL1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A CLDN1 COG4 INSR KCNH1 KCNK4 KCNN3 MSTO1 NDUFAF6 NEK1 RUSC2 SMC3 VPS13B VPS33A

Diseases (20) :OMIM:616368 ORPHA:444077 OMIM:605039 ORPHA:357074 ORPHA:198 OMIM:607626 ORPHA:263501 OMIM:613489 ORPHA:769 OMIM:135500 OMIM:618381 OMIM:618658 ORPHA:502423 OMIM:617675 OMIM:618239 ORPHA:2751 OMIM:617773 OMIM:610759 ORPHA:193 ORPHA:505248

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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