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 female external genitalia (HP:0000055)

Parent Node:
Abnormal labia morphology (HP:0000058)

..Starting node
..Abnormal labia majora morphology (HP:0012881)

Term ID:

12881

Name:

Abnormal labia majora morphology

Synonym:

Abnormality of the labia majora; Abnormality of vaginal lips

Definition:

An anomaly of the outer labia.

Comments:

Reference:

HP:0012881

Genes and Diseases:

Child Nodes:

........

Hypoplastic labia majora (HP:0000059)

........

Absence of labia majora (HP:0008729)

........

Hyperplastic labia majora (HP:0012882)

........

Fused labia majora (HP:0025486)

........

Exaggerated rugosity of the labia majora (HP:0030913)

Sister Nodes:

Abnormal labia minora morphology (HP:0012880)

Labial hypertrophy (HP:0000065)

Labial hypoplasia (HP:0000066)

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:0012881	HP:0012881	Abnormal labia majora morphology	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0012881	HP:0012881	Abnormal labia majora morphology	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0012881	HP:0033588	Labial adhesion	1	CL E G H
HP:0012881	HP:0025486	Fused labia majora	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0012881	HP:0000059	Hypoplastic labia majora	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0012881	HP:0000059	Hypoplastic labia majora	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0012881	HP:0000059	Hypoplastic labia majora	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0012881	HP:0000059	Hypoplastic labia majora	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0012881	HP:0000059	Hypoplastic labia majora	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0012881	HP:0008729	Absence of labia majora	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0012881	HP:0008729	Absence of labia majora	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0012881	HP:0000059	Hypoplastic labia majora	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0012881	HP:0000059	Hypoplastic labia majora	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0012881	HP:0000059	Hypoplastic labia majora	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0012881	HP:0000059	Hypoplastic labia majora	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0012881	HP:0000059	Hypoplastic labia majora	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	HP:0040283 - Occasional	37
HP:0012881	HP:0000059	Hypoplastic labia majora	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0012881	HP:0000059	Hypoplastic labia majora	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0012881	HP:0000059	Hypoplastic labia majora	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0012881	HP:0000059	Hypoplastic labia majora	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0012881	HP:0000059	Hypoplastic labia majora	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0012881	HP:0000059	Hypoplastic labia majora	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0012881	HP:0000059	Hypoplastic labia majora	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0012881	HP:0000059	Hypoplastic labia majora	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0012881	HP:0000059	Hypoplastic labia majora	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0012881	HP:0000059	Hypoplastic labia majora	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0012881	HP:0000059	Hypoplastic labia majora	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0012881	HP:0008729	Absence of labia majora	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0012881	HP:0000059	Hypoplastic labia majora	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0012881	HP:0000059	Hypoplastic labia majora	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0012881	HP:0030913	Exaggerated rugosity of the labia majora	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0012881	HP:0000059	Hypoplastic labia majora	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0012881	HP:0000059	Hypoplastic labia majora	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0012881	HP:0000059	Hypoplastic labia majora	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0012881	HP:0000059	Hypoplastic labia majora	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0012881	HP:0000059	Hypoplastic labia majora	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0012881	HP:0012882	Hyperplastic labia majora	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0012881	HP:0000059	Hypoplastic labia majora	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0012881	HP:0025486	Fused labia majora	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0012881	HP:0000059	Hypoplastic labia majora	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0012881	HP:0000059	Hypoplastic labia majora	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0012881	HP:0000059	Hypoplastic labia majora	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0012881	HP:0000059	Hypoplastic labia majora	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0012881	HP:0000059	Hypoplastic labia majora	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0012881	HP:0000059	Hypoplastic labia majora	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0012881	HP:0000059	Hypoplastic labia majora	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0012881	HP:0000059	Hypoplastic labia majora	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0012881	HP:0000059	Hypoplastic labia majora	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0012881	HP:0000059	Hypoplastic labia majora	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional	174
HP:0012881	HP:0000059	Hypoplastic labia majora	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0012881	HP:0000059	Hypoplastic labia majora	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0012881	HP:0000059	Hypoplastic labia majora	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0012881	HP:0000059	Hypoplastic labia majora	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0012881	HP:0000059	Hypoplastic labia majora	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0012881	HP:0000059	Hypoplastic labia majora	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0012881	HP:0000059	Hypoplastic labia majora	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98

Genes (44) :AR B3GLCT BRD4 CDC45 CDC6 CDT1 CHRNG CTCF DVL1 DVL3 ECEL1 ESR2 FGFR2 FIG4 FZD2 GAD1 GMNN HDAC8 HSD3B2 IRF6 LIPE MYH3 NIPBL NR5A1 ORC1 ORC4 ORC6 PMM2 POR PPP2R3C RAB3GAP2 RAD21 RIPK4 ROR2 SETBP1 SLC25A24 SMC1A SMC3 SMCHD1 TP63 TWIST2 UBE3B VAC14 WNT5A

Diseases (37) :ORPHA:90797 OMIM:261540 ORPHA:199 ORPHA:2554 ORPHA:2990 OMIM:265000 ORPHA:363611 ORPHA:3107 OMIM:180700 OMIM:615065 OMIM:618187 OMIM:207410 OMIM:123790 ORPHA:3472 OMIM:619124 OMIM:616835 ORPHA:90791 ORPHA:1300 OMIM:119500 ORPHA:435660 OMIM:122470 OMIM:612965 OMIM:224690 OMIM:613800 ORPHA:79318 ORPHA:95699 OMIM:618419 OMIM:614225 OMIM:263650 OMIM:268310 OMIM:269150 OMIM:612289 OMIM:603457 OMIM:129400 OMIM:200110 OMIM:209885 OMIM:244450

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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