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:
obsolete Abnormality of hair density (HP:0011357)

Parent Node:
Abnormality of the axillary hair (HP:0100134)

Parent Node:
Sparse hair (HP:0008070)

..Starting node
..Sparse axillary hair (HP:0002215)

Term ID:

2215

Name:

Sparse axillary hair

Synonym:

Limited armpit hair; Little underarm hair; Sparse axillary and pubic hair; Sparse scalp, axillary, and pubic hair; sparse to absent axillary hair

Definition:

Reduced number or density of axillary hair.

Comments:

Reference:

HP:0002215

Genes and Diseases:

Child Nodes:

Sister Nodes:

Sparse body hair (HP:0002231)

Sparse eyelashes (HP:0000653)

Sparse facial hair (HP:0007464)

Sparse pubic hair (HP:0002225)

Sparse scalp hair (HP:0002209)

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:0002215	HP:0002215	Sparse axillary hair	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0002215	HP:0002215	Sparse axillary hair	0	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	HP:0040284 - Very rare	1
HP:0002215	HP:0002215	Sparse axillary hair	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0002215	HP:0002215	Sparse axillary hair	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0002215	HP:0002215	Sparse axillary hair	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0002215	HP:0002215	Sparse axillary hair	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0002215	HP:0002215	Sparse axillary hair	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0002215	HP:0002215	Sparse axillary hair	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0002215	HP:0002215	Sparse axillary hair	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0002215	HP:0002215	Sparse axillary hair	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0002215	HP:0002215	Sparse axillary hair	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0002215	HP:0002215	Sparse axillary hair	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0002215	HP:0002215	Sparse axillary hair	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0002215	HP:0002215	Sparse axillary hair	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0002215	HP:0002215	Sparse axillary hair	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	4
HP:0002215	HP:0002215	Sparse axillary hair	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0002215	HP:0002215	Sparse axillary hair	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	2
HP:0002215	HP:0002215	Sparse axillary hair	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	3
HP:0002215	HP:0002215	Sparse axillary hair	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0002215	HP:0002215	Sparse axillary hair	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0002215	HP:0002215	Sparse axillary hair	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0002215	HP:0002215	Sparse axillary hair	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	15
HP:0002215	HP:0002215	Sparse axillary hair	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	92
HP:0002215	HP:0002215	Sparse axillary hair	0	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome	HP:0040281 - Very frequent
HP:0002215	HP:0002215	Sparse axillary hair	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124
HP:0002215	HP:0002215	Sparse axillary hair	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0002215	HP:0002215	Sparse axillary hair	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0002215	HP:0002215	Sparse axillary hair	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional	8
HP:0002215	HP:0002215	Sparse axillary hair	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0002215	HP:0002215	Sparse axillary hair	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.	13
HP:0002215	HP:0002215	Sparse axillary hair	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0002215	HP:0002215	Sparse axillary hair	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0002215	HP:0002215	Sparse axillary hair	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0002215	HP:0002215	Sparse axillary hair	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002215	HP:0002215	Sparse axillary hair	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	16
HP:0002215	HP:0002215	Sparse axillary hair	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0002215	HP:0002215	Sparse axillary hair	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	5
HP:0002215	HP:0002215	Sparse axillary hair	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0002215	HP:0002215	Sparse axillary hair	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0002215	HP:0002215	Sparse axillary hair	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0002215	HP:0002215	Sparse axillary hair	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0002215	HP:0002215	Sparse axillary hair	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0002215	HP:0002215	Sparse axillary hair	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0002215	HP:0002215	Sparse axillary hair	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	10
HP:0002215	HP:0002215	Sparse axillary hair	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0002215	HP:0002215	Sparse axillary hair	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0002215	HP:0002215	Sparse axillary hair	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31

Genes (44) :ADAMTS3 APCDD1 AR AXIN2 AXL CCBE1 CCDC141 COL17A1 CYB5A CYP17A1 DHX37 DMRT3 DSC3 DUSP6 FAT4 FEZF1 FGF17 FSHB GATA4 GJB6 GNRH1 GNRHR HLA-DRA ITGB4 LHB LIPH LPAR6 MAP3K1 NR0B1 NR5A1 ORC6 PSMB8 SEMA3E SOX9 SPRY4 SRA1 SRY TBX3 TP63 VAMP7 WDR11 WT1 WWOX ZFPM2

Diseases (22) :ORPHA:2136 OMIM:605389 OMIM:300068 ORPHA:99429 OMIM:608615 OMIM:146110 ORPHA:251393 ORPHA:90796 ORPHA:251510 OMIM:613102 ORPHA:52901 ORPHA:189 ORPHA:505 OMIM:228300 OMIM:604379 OMIM:278150 OMIM:613762 OMIM:613803 OMIM:256040 OMIM:181450 OMIM:103285 OMIM:604292

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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