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)

Grandparent Node:
External genital hypoplasia (HP:0003241)

Parent Node:
Abnormal labia morphology (HP:0000058)

Parent Node:
Hypoplastic female external genitalia (HP:0012815)

..Starting node
..Labial hypoplasia (HP:0000066)

Term ID:

Name:

Labial hypoplasia

Synonym:

Hypoplastic labia; Underdeveloped labia

Definition:

Comments:

Reference:

HP:0000066

Genes and Diseases:

Child Nodes:

........

Hypoplastic labia majora (HP:0000059)

........

Hypoplastic labia minora (HP:0000064)

Sister Nodes:

Clitoral hypoplasia (HP:0000060)

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:0000066	HP:0000066	Labial hypoplasia	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0000066	HP:0000066	Labial hypoplasia	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0000066	HP:0000066	Labial hypoplasia	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000066	HP:0000066	Labial hypoplasia	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000066	HP:0000066	Labial hypoplasia	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0000066	HP:0000066	Labial hypoplasia	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000066	HP:0000066	Labial hypoplasia	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000066	HP:0000066	Labial hypoplasia	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000066	HP:0000066	Labial hypoplasia	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000066	HP:0000066	Labial hypoplasia	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000066	HP:0000066	Labial hypoplasia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000066	HP:0000066	Labial hypoplasia	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0000066	HP:0000066	Labial hypoplasia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0000066	HP:0000066	Labial hypoplasia	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000066	HP:0000066	Labial hypoplasia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0000066	HP:0000066	Labial hypoplasia	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0000066	HP:0000066	Labial hypoplasia	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0000066	HP:0000066	Labial hypoplasia	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0000066	HP:0000066	Labial hypoplasia	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000066	HP:0000066	Labial hypoplasia	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0000066	HP:0000066	Labial hypoplasia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000066	HP:0000066	Labial hypoplasia	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000066	HP:0000066	Labial hypoplasia	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000066	HP:0000066	Labial hypoplasia	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000066	HP:0000066	Labial hypoplasia	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000066	HP:0000066	Labial hypoplasia	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000066	HP:0000066	Labial hypoplasia	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000066	HP:0000066	Labial hypoplasia	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000066	HP:0000066	Labial hypoplasia	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0000066	HP:0000066	Labial hypoplasia	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0000066	HP:0000066	Labial hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0000066	HP:0000066	Labial hypoplasia	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000066	HP:0000066	Labial hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0000066	HP:0000066	Labial hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0000066	HP:0000066	Labial hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0000066	HP:0000066	Labial hypoplasia	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000066	HP:0000066	Labial hypoplasia	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000066	HP:0000066	Labial hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000066	HP:0000066	Labial hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000066	HP:0000066	Labial hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000066	HP:0000066	Labial hypoplasia	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000066	HP:0000066	Labial hypoplasia	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000066	HP:0000066	Labial hypoplasia	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000066	HP:0000066	Labial hypoplasia	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0000066	HP:0000066	Labial hypoplasia	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0000066	HP:0000066	Labial hypoplasia	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0000066	HP:0000066	Labial hypoplasia	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0000066	HP:0000066	Labial hypoplasia	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0000066	HP:0000066	Labial hypoplasia	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0000066	HP:0000066	Labial hypoplasia	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0000066	HP:0000066	Labial hypoplasia	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0000066	HP:0000066	Labial hypoplasia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0000066	HP:0000066	Labial hypoplasia	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000066	HP:0000066	Labial hypoplasia	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0000066	HP:0000066	Labial hypoplasia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000066	HP:0000066	Labial hypoplasia	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000066	HP:0000066	Labial hypoplasia	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000066	HP:0000066	Labial hypoplasia	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000066	HP:0000066	Labial hypoplasia	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0000066	HP:0000066	Labial hypoplasia	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0000066	HP:0000066	Labial hypoplasia	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0000066	HP:0000066	Labial hypoplasia	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0000066	HP:0000066	Labial hypoplasia	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0000066	HP:0000066	Labial hypoplasia	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000066	HP:0000066	Labial hypoplasia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000066	HP:0000066	Labial hypoplasia	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000066	HP:0000066	Labial hypoplasia	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000066	HP:0000066	Labial hypoplasia	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000066	HP:0000066	Labial hypoplasia	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0000066	HP:0000066	Labial hypoplasia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000066	HP:0000066	Labial hypoplasia	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000066	HP:0000066	Labial hypoplasia	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000066	HP:0000066	Labial hypoplasia	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000066	HP:0000066	Labial hypoplasia	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000066	HP:0000066	Labial hypoplasia	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000066	HP:0000066	Labial hypoplasia	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000066	HP:0000066	Labial hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0000066	HP:0000066	Labial hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0000066	HP:0000066	Labial hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0000066	HP:0000066	Labial hypoplasia	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0000066	HP:0000066	Labial hypoplasia	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000066	HP:0000066	Labial hypoplasia	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000066	HP:0000066	Labial hypoplasia	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000066	HP:0000066	Labial hypoplasia	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000066	HP:0000066	Labial hypoplasia	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0000066	HP:0000066	Labial hypoplasia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0000066	HP:0000066	Labial hypoplasia	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000066	HP:0000064	Hypoplastic labia minora	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0000066	HP:0000059	Hypoplastic labia majora	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000066	HP:0000059	Hypoplastic labia majora	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000066	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:0000066	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:0000066	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:0000066	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:0000066	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:0000066	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:0000066	HP:0000059	Hypoplastic labia majora	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000066	HP:0000064	Hypoplastic labia minora	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0000066	HP:0000059	Hypoplastic labia majora	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0000066	HP:0000059	Hypoplastic labia majora	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000066	HP:0000059	Hypoplastic labia majora	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0000066	HP:0000064	Hypoplastic labia minora	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0000066	HP:0000059	Hypoplastic labia majora	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	HP:0040283 - Occasional	37
HP:0000066	HP:0000059	Hypoplastic labia majora	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0000066	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:0000066	HP:0000059	Hypoplastic labia majora	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000066	HP:0000059	Hypoplastic labia majora	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0000066	HP:0000059	Hypoplastic labia majora	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000066	HP:0000064	Hypoplastic labia minora	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000066	HP:0000064	Hypoplastic labia minora	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000066	HP:0000059	Hypoplastic labia majora	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000066	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:0000066	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:0000066	HP:0000059	Hypoplastic labia majora	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000066	HP:0000059	Hypoplastic labia majora	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000066	HP:0000064	Hypoplastic labia minora	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000066	HP:0000064	Hypoplastic labia minora	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000066	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:0000066	HP:0000059	Hypoplastic labia majora	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0000066	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:0000066	HP:0000064	Hypoplastic labia minora	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000066	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:0000066	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:0000066	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:0000066	HP:0000064	Hypoplastic labia minora	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000066	HP:0000064	Hypoplastic labia minora	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000066	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:0000066	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:0000066	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:0000066	HP:0000059	Hypoplastic labia majora	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000066	HP:0000059	Hypoplastic labia majora	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000066	HP:0000064	Hypoplastic labia minora	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000066	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:0000066	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:0000066	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:0000066	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:0000066	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:0000066	HP:0000064	Hypoplastic labia minora	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000066	HP:0000059	Hypoplastic labia majora	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000066	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:0000066	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:0000066	HP:0000059	Hypoplastic labia majora	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0000066	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:0000066	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:0000066	HP:0000064	Hypoplastic labia minora	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000066	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:0000066	HP:0000059	Hypoplastic labia majora	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000066	HP:0000064	Hypoplastic labia minora	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000066	HP:0000064	Hypoplastic labia minora	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000066	HP:0000064	Hypoplastic labia minora	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0000066	HP:0000064	Hypoplastic labia minora	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000066	HP:0000064	Hypoplastic labia minora	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0000066	HP:0000064	Hypoplastic labia minora	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0000066	HP:0000059	Hypoplastic labia majora	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0000066	HP:0000059	Hypoplastic labia majora	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000066	HP:0000059	Hypoplastic labia majora	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000066	HP:0000059	Hypoplastic labia majora	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000066	HP:0000059	Hypoplastic labia majora	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000066	HP:0000064	Hypoplastic labia minora	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000066	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:0000066	HP:0000059	Hypoplastic labia majora	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000066	HP:0000059	Hypoplastic labia majora	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000066	HP:0000059	Hypoplastic labia majora	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000066	HP:0000059	Hypoplastic labia majora	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional	174
HP:0000066	HP:0000064	Hypoplastic labia minora	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000066	HP:0000064	Hypoplastic labia minora	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000066	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:0000066	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:0000066	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:0000066	HP:0000064	Hypoplastic labia minora	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0000066	HP:0000059	Hypoplastic labia majora	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000066	HP:0000059	Hypoplastic labia majora	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0000066	HP:0000059	Hypoplastic labia majora	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000066	HP:0000064	Hypoplastic labia minora	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000066	HP:0000059	Hypoplastic labia majora	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0000066	HP:0000059	Hypoplastic labia majora	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0000066	HP:0000059	Hypoplastic labia majora	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0000066	HP:0000064	Hypoplastic labia minora	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0000066	HP:0000059	Hypoplastic labia majora	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98

Genes (62) :ACTB AR B3GLCT BRD4 CCNQ CDC45 CDC6 CDT1 CHD7 CTCF DVL1 DVL3 ECEL1 ESR2 FGFR2 FIG4 FZD2 GAD1 GMNN HDAC8 HERC2 HNRNPR IPW IRF6 MAGEL2 MKRN3 MKRN3-AS1 NDN NIPBL NPAP1 OCA2 ORC1 ORC4 ORC6 POR PORCN PPP2R3C PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RIPK4 ROR2 SEMA3E SETBP1 SIM1 SLC25A24 SMARCA2 SMC1A SMC3 SMCHD1 SNORD115-1 SNORD116-1 SNRPN TBC1D20 TP63 TWIST2 UBE3B VAC14 WNT5A

Diseases (48) :ORPHA:64755 OMIM:300068 OMIM:261540 ORPHA:199 ORPHA:140952 OMIM:300707 ORPHA:2554 ORPHA:138 OMIM:214800 ORPHA:363611 ORPHA:3107 OMIM:180700 OMIM:615065 OMIM:618187 OMIM:207410 OMIM:123790 ORPHA:3472 OMIM:619124 OMIM:616835 OMIM:176270 OMIM:620073 ORPHA:1300 OMIM:119500 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:122470 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:201750 OMIM:305600 OMIM:618419 ORPHA:2510 OMIM:614222 OMIM:614225 OMIM:263650 OMIM:268310 OMIM:269150 ORPHA:398079 OMIM:612289 OMIM:619293 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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