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 quantity (HP:0011362)

Parent Node:
Abnormality of the pubic hair (HP:0100133)

Parent Node:
Absent hair (HP:0002298)

..Starting node
..Absent pubic hair (HP:0002555)

Term ID:

2555

Name:

Absent pubic hair

Synonym:

Absent pubic hair

Definition:

Absence of pubic hair.

Comments:

Reference:

HP:0002555

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent axillary hair (HP:0002221)

Absent eyebrow (HP:0002223)

Absent facial hair (HP:0002550)

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:0002555	HP:0002555	Absent pubic hair	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0002555	HP:0002555	Absent pubic hair	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0002555	HP:0002555	Absent pubic hair	0	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0002555	HP:0002555	Absent pubic hair	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0002555	HP:0002555	Absent pubic hair	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0002555	HP:0002555	Absent pubic hair	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0002555	HP:0002555	Absent pubic hair	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0002555	HP:0002555	Absent pubic hair	0	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0002555	HP:0002555	Absent pubic hair	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0002555	HP:0002555	Absent pubic hair	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38

Genes (9) :AR CYP17A1 EPS8L3 GJB2 GJB6 GNRH1 HR ITGB4 NR5A1

Diseases (10) :ORPHA:99429 ORPHA:90793 OMIM:612841 OMIM:148210 OMIM:129500 ORPHA:189 OMIM:614841 OMIM:203655 OMIM:619816 OMIM:612964

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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