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 skin adnexa morphology (HP:0011138)

Grandparent Node:
Neoplasm of the skin (HP:0008069)

Parent Node:
Skin appendage neoplasm (HP:0012842)

..Starting node
..Hair follicle neoplasm (HP:0012843)

Term ID:

12843

Name:

Hair follicle neoplasm

Synonym:

Definition:

An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.

Comments:

Reference:

HP:0012843

Genes and Diseases:

Child Nodes:

........

Trichilemmoma (HP:0012844)

................... HP:0012845 Single trichilemmoma
................... HP:0012846 Multiple trichilemmomata

........

Trichoepithelioma (HP:0025367)

Sister Nodes:

Apocrine hidrocystoma (HP:0031454)

Cylindroma (HP:0031024)

Follicular infundibulum tumor (HP:0031548)

Pilomatrixoma (HP:0030434)

Poroma (HP:0031405)

Sebaceous gland carcinoma (HP:0030410)

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:0012843	HP:0012843	Hair follicle neoplasm	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0012843	HP:0012843	Hair follicle neoplasm	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0012843	HP:0012843	Hair follicle neoplasm	0	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4		1
HP:0012843	HP:0012843	Hair follicle neoplasm	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease		948
HP:0012843	HP:0012843	Hair follicle neoplasm	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0012843	HP:0025367	Trichoepithelioma	1	CL E G H
HP:0012843	HP:0012844	Trichilemmoma	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0012843	HP:0012844	Trichilemmoma	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0012843	HP:0012844	Trichilemmoma	1	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4	.	1
HP:0012843	HP:0012844	Trichilemmoma	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent	948
HP:0012843	HP:0012844	Trichilemmoma	1	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0012843	HP:0012846	Multiple trichilemmomata	2	CL E G H
HP:0012843	HP:0012845	Single trichilemmoma	2	CL E G H

Genes (5) :GJB2 GJB6 KLLN PTEN SEC23B

Diseases (4) :ORPHA:477 OMIM:615107 ORPHA:65285 OMIM:616858

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.