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 minora morphology (HP:0012880)

Term ID:

12880

Name:

Abnormal labia minora morphology

Synonym:

Abnormality of the inner vaginal lips; Abnormality of the labia minora

Definition:

An anomaly of the labia minora, the folds of skin between the outer labia.

Comments:

Reference:

HP:0012880

Genes and Diseases:

Child Nodes:

........

Fused labia minora (HP:0000063)

........

Hypoplastic labia minora (HP:0000064)

........

Enlarged labia minora (HP:0008683)

Sister Nodes:

Abnormal labia majora morphology (HP:0012881)

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:0012880	HP:0012880	Abnormal labia minora morphology	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria		4
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0012880	HP:0012880	Abnormal labia minora morphology	0	ZFPM2 CL E G H	23414	16700	OMIM:616067	46,xy sex reversal 9		31
HP:0012880	HP:0000064	Hypoplastic labia minora	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0012880	HP:0000063	Fused labia minora	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent	4
HP:0012880	HP:0000063	Fused labia minora	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0012880	HP:0000064	Hypoplastic labia minora	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0012880	HP:0000064	Hypoplastic labia minora	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0012880	HP:0000064	Hypoplastic labia minora	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0012880	HP:0000064	Hypoplastic labia minora	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0012880	HP:0000064	Hypoplastic labia minora	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0012880	HP:0008683	Enlarged labia minora	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0012880	HP:0000063	Fused labia minora	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0012880	HP:0000064	Hypoplastic labia minora	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0012880	HP:0000064	Hypoplastic labia minora	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0012880	HP:0000064	Hypoplastic labia minora	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0012880	HP:0000064	Hypoplastic labia minora	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0012880	HP:0000064	Hypoplastic labia minora	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0008683	Enlarged labia minora	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0012880	HP:0000064	Hypoplastic labia minora	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0012880	HP:0000064	Hypoplastic labia minora	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0012880	HP:0000064	Hypoplastic labia minora	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0012880	HP:0000064	Hypoplastic labia minora	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0012880	HP:0000064	Hypoplastic labia minora	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0012880	HP:0000064	Hypoplastic labia minora	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0012880	HP:0000064	Hypoplastic labia minora	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0000064	Hypoplastic labia minora	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0012880	HP:0000064	Hypoplastic labia minora	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0012880	HP:0000064	Hypoplastic labia minora	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0012880	HP:0000064	Hypoplastic labia minora	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0012880	HP:0000064	Hypoplastic labia minora	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0012880	HP:0000064	Hypoplastic labia minora	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0012880	HP:0000064	Hypoplastic labia minora	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0012880	HP:0000064	Hypoplastic labia minora	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0012880	HP:0000064	Hypoplastic labia minora	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0012880	HP:0000064	Hypoplastic labia minora	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0012880	HP:0000064	Hypoplastic labia minora	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0012880	HP:0000064	Hypoplastic labia minora	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0012880	HP:0000063	Fused labia minora	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0012880	HP:0000064	Hypoplastic labia minora	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0000064	Hypoplastic labia minora	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0000064	Hypoplastic labia minora	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0012880	HP:0000064	Hypoplastic labia minora	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0012880	HP:0000064	Hypoplastic labia minora	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0012880	HP:0000064	Hypoplastic labia minora	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0012880	HP:0000064	Hypoplastic labia minora	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0012880	HP:0000064	Hypoplastic labia minora	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0012880	HP:0000064	Hypoplastic labia minora	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0000064	Hypoplastic labia minora	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012880	HP:0000064	Hypoplastic labia minora	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0012880	HP:0000064	Hypoplastic labia minora	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0012880	HP:0000064	Hypoplastic labia minora	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0012880	HP:0000064	Hypoplastic labia minora	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0012880	HP:0000064	Hypoplastic labia minora	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0012880	HP:0000064	Hypoplastic labia minora	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0012880	HP:0000063	Fused labia minora	1	ZFPM2 CL E G H	23414	16700	OMIM:616067	46,xy sex reversal 9	.	31

Genes (39) :ACTB ATIC CDC45 CDC6 CDT1 DVL1 DVL3 ESCO2 FGFR2 FZD2 GAD1 GMNN HERC2 IPW KAT6B MAGEL2 MKRN3 MKRN3-AS1 NDN NPAP1 OCA2 ORC1 ORC4 ORC6 POR PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 SETBP1 SIM1 SNORD115-1 SNORD116-1 SNRPN TBC1D20 TWIST2 WNT5A ZFPM2

Diseases (22) :ORPHA:64755 ORPHA:250977 OMIM:608688 ORPHA:2554 ORPHA:3107 OMIM:268300 OMIM:207410 OMIM:619124 OMIM:176270 OMIM:606170 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:224690 OMIM:613803 ORPHA:2510 OMIM:614222 OMIM:269150 ORPHA:398079 OMIM:209885 OMIM:616067

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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