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:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormality of secondary sexual hair (HP:0009888)

..Starting node
..Abnormality of the axillary hair (HP:0100134)

Term ID:

100134

Name:

Abnormality of the axillary hair

Synonym:

Definition:

Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.

Comments:

Reference:

HP:0100134

Genes and Diseases:

Child Nodes:

........

Sparse axillary hair (HP:0002215)

........

Absent axillary hair (HP:0002221)

Sister Nodes:

Abnormality of the pubic hair (HP:0100133)

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:0100134	HP:0100134	Abnormality of the axillary hair	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1		1
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:0100134	HP:0100134	Abnormality of the 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		2
HP:0100134	HP:0100134	Abnormality of the 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		53
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8		8
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14		2
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		16
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11		2
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		5
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome		100
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		10
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0100134	HP:0100134	Abnormality of the axillary hair	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0100134	HP:0002215	Sparse axillary hair	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0100134	HP:0002215	Sparse axillary hair	1	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1	HP:0040284 - Very rare	1
HP:0100134	HP:0002221	Absent axillary hair	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease	.	39
HP:0100134	HP:0002215	Sparse axillary hair	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0100134	HP:0002221	Absent axillary hair	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0100134	HP:0002215	Sparse axillary hair	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0100134	HP:0002215	Sparse axillary hair	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100134	HP:0002215	Sparse axillary hair	1	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0100134	HP:0002215	Sparse axillary hair	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0100134	HP:0002215	Sparse axillary hair	1	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0100134	HP:0002215	Sparse axillary hair	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0100134	HP:0002215	Sparse axillary hair	1	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:0100134	HP:0002215	Sparse axillary hair	1	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:0100134	HP:0002221	Absent axillary hair	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0100134	HP:0002215	Sparse axillary hair	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0100134	HP:0002215	Sparse axillary hair	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0100134	HP:0002215	Sparse axillary hair	1	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0100134	HP:0002215	Sparse axillary hair	1	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	4
HP:0100134	HP:0002221	Absent axillary hair	1	EPS8L3 CL E G H	79574	21297	OMIM:612841	Hypotrichosis 5	.
HP:0100134	HP:0002215	Sparse axillary hair	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0100134	HP:0002215	Sparse axillary hair	1	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	2
HP:0100134	HP:0002215	Sparse axillary hair	1	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	3
HP:0100134	HP:0002215	Sparse axillary hair	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0100134	HP:0002215	Sparse axillary hair	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0100134	HP:0002221	Absent axillary hair	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0100134	HP:0002221	Absent axillary hair	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0100134	HP:0002215	Sparse axillary hair	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0100134	HP:0002221	Absent axillary hair	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0100134	HP:0002215	Sparse axillary hair	1	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	15
HP:0100134	HP:0002215	Sparse axillary hair	1	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	92
HP:0100134	HP:0002215	Sparse axillary hair	1	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome	HP:0040281 - Very frequent
HP:0100134	HP:0002221	Absent axillary hair	1	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita		106
HP:0100134	HP:0002221	Absent axillary hair	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0100134	HP:0002215	Sparse axillary hair	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124
HP:0100134	HP:0002215	Sparse axillary hair	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0100134	HP:0002215	Sparse axillary hair	1	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0100134	HP:0002215	Sparse axillary hair	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	HP:0040283 - Occasional	8
HP:0100134	HP:0002221	Absent axillary hair	1	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14		2
HP:0100134	HP:0002215	Sparse axillary hair	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0100134	HP:0002215	Sparse axillary hair	1	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.	13
HP:0100134	HP:0002215	Sparse axillary hair	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0100134	HP:0002215	Sparse axillary hair	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0100134	HP:0002215	Sparse axillary hair	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0100134	HP:0002221	Absent axillary hair	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0100134	HP:0002215	Sparse axillary hair	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0100134	HP:0002215	Sparse axillary hair	1	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	16
HP:0100134	HP:0002221	Absent axillary hair	1	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11	.	2
HP:0100134	HP:0002215	Sparse axillary hair	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0100134	HP:0002215	Sparse axillary hair	1	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	5
HP:0100134	HP:0002215	Sparse axillary hair	1	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0100134	HP:0002215	Sparse axillary hair	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0100134	HP:0002221	Absent axillary hair	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040281 - Very frequent	100
HP:0100134	HP:0002215	Sparse axillary hair	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0100134	HP:0002215	Sparse axillary hair	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0100134	HP:0002215	Sparse axillary hair	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0100134	HP:0002215	Sparse axillary hair	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0100134	HP:0002215	Sparse axillary hair	1	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	10
HP:0100134	HP:0002215	Sparse axillary hair	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0100134	HP:0002215	Sparse axillary hair	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0100134	HP:0002221	Absent axillary hair	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0100134	HP:0002215	Sparse axillary hair	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31

Genes (52) :ADAMTS3 APCDD1 APOE AR AXIN2 AXL CCBE1 CCDC141 COL17A1 CYB5A CYP17A1 DHX37 DMRT3 DSC3 DUSP6 EPS8L3 FAT4 FEZF1 FGF17 FSHB GATA4 GJB2 GJB6 GNRH1 GNRHR HLA-DRA HR ITGB4 LHB LIPH LPAR6 LSS MAP3K1 NR0B1 NR5A1 ORC6 PPP2R3C PSMB8 SEMA3E SNRPE SOX9 SPRY4 SRA1 SRY TBX3 TP63 VAMP7 WDR11 WT1 WWOX ZBTB20 ZFPM2

Diseases (34) :ORPHA:2136 OMIM:605389 OMIM:269600 OMIM:300068 ORPHA:99429 OMIM:608615 OMIM:146110 ORPHA:251393 ORPHA:90796 ORPHA:90793 ORPHA:251510 OMIM:613102 OMIM:612841 ORPHA:52901 OMIM:148210 OMIM:129500 ORPHA:189 ORPHA:505 OMIM:203655 OMIM:619816 OMIM:228300 OMIM:604379 OMIM:278150 OMIM:618275 OMIM:613762 OMIM:613803 OMIM:618419 OMIM:256040 OMIM:615059 OMIM:181450 ORPHA:3138 OMIM:103285 OMIM:604292 OMIM:259050

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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