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 external genitalia (HP:0000811)

Parent Node:
Abnormality of female external genitalia (HP:0000055)

Parent Node:
External genital hypoplasia (HP:0003241)

..Starting node
..Hypoplastic female external genitalia (HP:0012815)

Term ID:

12815

Name:

Hypoplastic female external genitalia

Synonym:

Underdeveloped female external genitalia

Definition:

Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).

Comments:

Reference:

HP:0012815

Genes and Diseases:

Child Nodes:

........

Clitoral hypoplasia (HP:0000060)

........

Labial hypoplasia (HP:0000066)

................... HP:0000059 Hypoplastic labia majora
................... HP:0000064 Hypoplastic labia minora

Sister Nodes:

Hypoplastic male external genitalia (HP:0000050)

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:0012815	HP:0012815	Hypoplastic female external genitalia	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0012815	HP:0012815	Hypoplastic female external genitalia	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0012815	HP:0000066	Labial hypoplasia	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0012815	HP:0000066	Labial hypoplasia	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0012815	HP:0000060	Clitoral hypoplasia	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0012815	HP:0000066	Labial hypoplasia	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0012815	HP:0000060	Clitoral hypoplasia	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0012815	HP:0000066	Labial hypoplasia	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0012815	HP:0000066	Labial hypoplasia	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0012815	HP:0000066	Labial hypoplasia	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0012815	HP:0000060	Clitoral hypoplasia	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0012815	HP:0000066	Labial hypoplasia	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0012815	HP:0000066	Labial hypoplasia	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0012815	HP:0000060	Clitoral hypoplasia	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0012815	HP:0000066	Labial hypoplasia	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0012815	HP:0000060	Clitoral hypoplasia	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0012815	HP:0000066	Labial hypoplasia	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0012815	HP:0000066	Labial hypoplasia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0012815	HP:0000066	Labial hypoplasia	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0012815	HP:0000060	Clitoral hypoplasia	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0012815	HP:0000066	Labial hypoplasia	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0012815	HP:0000066	Labial hypoplasia	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0012815	HP:0000060	Clitoral hypoplasia	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0012815	HP:0000060	Clitoral hypoplasia	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0012815	HP:0000066	Labial hypoplasia	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0012815	HP:0000060	Clitoral hypoplasia	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0012815	HP:0000066	Labial hypoplasia	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0012815	HP:0000066	Labial hypoplasia	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0012815	HP:0000066	Labial hypoplasia	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0012815	HP:0000066	Labial hypoplasia	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0012815	HP:0000066	Labial hypoplasia	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0012815	HP:0000066	Labial hypoplasia	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0012815	HP:0000060	Clitoral hypoplasia	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0012815	HP:0000066	Labial hypoplasia	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0012815	HP:0000066	Labial hypoplasia	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0012815	HP:0000060	Clitoral hypoplasia	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0012815	HP:0000066	Labial hypoplasia	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0012815	HP:0000066	Labial hypoplasia	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0012815	HP:0000060	Clitoral hypoplasia	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0012815	HP:0000066	Labial hypoplasia	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0012815	HP:0000066	Labial hypoplasia	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0012815	HP:0000060	Clitoral hypoplasia	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000066	Labial hypoplasia	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000066	Labial hypoplasia	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0012815	HP:0000066	Labial hypoplasia	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0012815	HP:0000060	Clitoral hypoplasia	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0012815	HP:0000066	Labial hypoplasia	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0012815	HP:0000060	Clitoral hypoplasia	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0012815	HP:0000066	Labial hypoplasia	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0012815	HP:0000060	Clitoral hypoplasia	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0012815	HP:0000066	Labial hypoplasia	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0012815	HP:0000066	Labial hypoplasia	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000060	Clitoral hypoplasia	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000066	Labial hypoplasia	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012815	HP:0000066	Labial hypoplasia	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0012815	HP:0000066	Labial hypoplasia	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0012815	HP:0000060	Clitoral hypoplasia	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0012815	HP:0000066	Labial hypoplasia	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0012815	HP:0000066	Labial hypoplasia	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0012815	HP:0000060	Clitoral hypoplasia	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0012815	HP:0000066	Labial hypoplasia	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0012815	HP:0000066	Labial hypoplasia	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0012815	HP:0000060	Clitoral hypoplasia	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0012815	HP:0000066	Labial hypoplasia	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0012815	HP:0000060	Clitoral hypoplasia	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0012815	HP:0000066	Labial hypoplasia	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0012815	HP:0000066	Labial hypoplasia	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0012815	HP:0000060	Clitoral hypoplasia	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional	10
HP:0012815	HP:0000066	Labial hypoplasia	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0012815	HP:0000066	Labial hypoplasia	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0012815	HP:0000066	Labial hypoplasia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0012815	HP:0000060	Clitoral hypoplasia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0012815	HP:0000066	Labial hypoplasia	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0012815	HP:0000060	Clitoral hypoplasia	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0012815	HP:0000060	Clitoral hypoplasia	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000066	Labial hypoplasia	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000066	Labial hypoplasia	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000060	Clitoral hypoplasia	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000060	Clitoral hypoplasia	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0012815	HP:0000066	Labial hypoplasia	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0012815	HP:0000066	Labial hypoplasia	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0012815	HP:0000066	Labial hypoplasia	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0012815	HP:0000060	Clitoral hypoplasia	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0012815	HP:0000066	Labial hypoplasia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0012815	HP:0000060	Clitoral hypoplasia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0012815	HP:0000066	Labial hypoplasia	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0012815	HP:0000066	Labial hypoplasia	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0012815	HP:0000066	Labial hypoplasia	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0012815	HP:0000060	Clitoral hypoplasia	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0012815	HP:0000066	Labial hypoplasia	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0012815	HP:0000066	Labial hypoplasia	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0012815	HP:0000066	Labial hypoplasia	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0012815	HP:0000060	Clitoral hypoplasia	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0012815	HP:0000066	Labial hypoplasia	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0012815	HP:0000066	Labial hypoplasia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0012815	HP:0000066	Labial hypoplasia	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0012815	HP:0000066	Labial hypoplasia	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0012815	HP:0000066	Labial hypoplasia	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0012815	HP:0000066	Labial hypoplasia	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0012815	HP:0000066	Labial hypoplasia	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000060	Clitoral hypoplasia	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000066	Labial hypoplasia	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000060	Clitoral hypoplasia	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000066	Labial hypoplasia	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0012815	HP:0000066	Labial hypoplasia	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0012815	HP:0000060	Clitoral hypoplasia	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:0012815	HP:0000060	Clitoral hypoplasia	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0012815	HP:0000066	Labial hypoplasia	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0012815	HP:0000066	Labial hypoplasia	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0012815	HP:0000066	Labial hypoplasia	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0012815	HP:0000066	Labial hypoplasia	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0012815	HP:0000066	Labial hypoplasia	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0012815	HP:0000066	Labial hypoplasia	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0012815	HP:0000060	Clitoral hypoplasia	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0012815	HP:0000066	Labial hypoplasia	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0012815	HP:0000066	Labial hypoplasia	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0012815	HP:0000060	Clitoral hypoplasia	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0012815	HP:0000064	Hypoplastic labia minora	2	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0012815	HP:0000059	Hypoplastic labia majora	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0012815	HP:0000059	Hypoplastic labia majora	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0012815	HP:0000064	Hypoplastic labia minora	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0012815	HP:0000059	Hypoplastic labia majora	2	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0012815	HP:0000059	Hypoplastic labia majora	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0012815	HP:0000064	Hypoplastic labia minora	2	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0012815	HP:0000064	Hypoplastic labia minora	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0012815	HP:0000059	Hypoplastic labia majora	2	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0012815	HP:0000059	Hypoplastic labia majora	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0012815	HP:0000059	Hypoplastic labia majora	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0012815	HP:0000064	Hypoplastic labia minora	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0012815	HP:0000059	Hypoplastic labia majora	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0012815	HP:0000059	Hypoplastic labia majora	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0012815	HP:0000064	Hypoplastic labia minora	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0012815	HP:0000059	Hypoplastic labia majora	2	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	HP:0040283 - Occasional	37
HP:0012815	HP:0000059	Hypoplastic labia majora	2	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0012815	HP:0000059	Hypoplastic labia majora	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0012815	HP:0000059	Hypoplastic labia majora	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0012815	HP:0000059	Hypoplastic labia majora	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0012815	HP:0000064	Hypoplastic labia minora	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0012815	HP:0000059	Hypoplastic labia majora	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0012815	HP:0000059	Hypoplastic labia majora	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0012815	HP:0000064	Hypoplastic labia minora	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0012815	HP:0000059	Hypoplastic labia majora	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0012815	HP:0000064	Hypoplastic labia minora	2	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0012815	HP:0000059	Hypoplastic labia majora	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0012815	HP:0000059	Hypoplastic labia majora	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0012815	HP:0000064	Hypoplastic labia minora	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0012815	HP:0000064	Hypoplastic labia minora	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000059	Hypoplastic labia majora	2	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0012815	HP:0000059	Hypoplastic labia majora	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0012815	HP:0000064	Hypoplastic labia minora	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0012815	HP:0000064	Hypoplastic labia minora	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0012815	HP:0000064	Hypoplastic labia minora	2	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:0012815	HP:0000064	Hypoplastic labia minora	2	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:0012815	HP:0000064	Hypoplastic labia minora	2	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:0012815	HP:0000064	Hypoplastic labia minora	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0012815	HP:0000064	Hypoplastic labia minora	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000064	Hypoplastic labia minora	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0012815	HP:0000064	Hypoplastic labia minora	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0012815	HP:0000064	Hypoplastic labia minora	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0012815	HP:0000059	Hypoplastic labia majora	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0012815	HP:0000059	Hypoplastic labia majora	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0012815	HP:0000064	Hypoplastic labia minora	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0012815	HP:0000064	Hypoplastic labia minora	2	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:0012815	HP:0000064	Hypoplastic labia minora	2	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:0012815	HP:0000064	Hypoplastic labia minora	2	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:0012815	HP:0000064	Hypoplastic labia minora	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0012815	HP:0000059	Hypoplastic labia majora	2	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0012815	HP:0000064	Hypoplastic labia minora	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0012815	HP:0000059	Hypoplastic labia majora	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0012815	HP:0000059	Hypoplastic labia majora	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0012815	HP:0000064	Hypoplastic labia minora	2	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0012815	HP:0000059	Hypoplastic labia majora	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0012815	HP:0000059	Hypoplastic labia majora	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0012815	HP:0000064	Hypoplastic labia minora	2	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0012815	HP:0000064	Hypoplastic labia minora	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0012815	HP:0000059	Hypoplastic labia majora	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0012815	HP:0000059	Hypoplastic labia majora	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0012815	HP:0000064	Hypoplastic labia minora	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000064	Hypoplastic labia minora	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000064	Hypoplastic labia minora	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0012815	HP:0000064	Hypoplastic labia minora	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0012815	HP:0000064	Hypoplastic labia minora	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0012815	HP:0000064	Hypoplastic labia minora	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0012815	HP:0000059	Hypoplastic labia majora	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0012815	HP:0000059	Hypoplastic labia majora	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0012815	HP:0000059	Hypoplastic labia majora	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0012815	HP:0000059	Hypoplastic labia majora	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0012815	HP:0000059	Hypoplastic labia majora	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0012815	HP:0000064	Hypoplastic labia minora	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0012815	HP:0000064	Hypoplastic labia minora	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0012815	HP:0000059	Hypoplastic labia majora	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0012815	HP:0000059	Hypoplastic labia majora	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0012815	HP:0000059	Hypoplastic labia majora	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0012815	HP:0000059	Hypoplastic labia majora	2	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	HP:0040283 - Occasional	174
HP:0012815	HP:0000064	Hypoplastic labia minora	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000064	Hypoplastic labia minora	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012815	HP:0000064	Hypoplastic labia minora	2	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:0012815	HP:0000064	Hypoplastic labia minora	2	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:0012815	HP:0000064	Hypoplastic labia minora	2	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:0012815	HP:0000064	Hypoplastic labia minora	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0012815	HP:0000059	Hypoplastic labia majora	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0012815	HP:0000059	Hypoplastic labia majora	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0012815	HP:0000059	Hypoplastic labia majora	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0012815	HP:0000064	Hypoplastic labia minora	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0012815	HP:0000059	Hypoplastic labia majora	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0012815	HP:0000059	Hypoplastic labia majora	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0012815	HP:0000064	Hypoplastic labia minora	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0012815	HP:0000059	Hypoplastic labia majora	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0012815	HP:0000059	Hypoplastic labia majora	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98

Genes (66) :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 MOGS NDN NIPBL NPAP1 NXN OCA2 ORC1 ORC4 ORC6 POC1A POR PORCN PPP2R3C PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RIPK4 ROR2 SEMA3E SETBP1 SIM1 SLC25A24 SMARCA2 SMC1A SMC3 SMCHD1 SNORD115-1 SNORD116-1 SNRPN TBC1D20 TP63 TWIST2 UBE3B VAC14 WNT5A

Diseases (54) :ORPHA:64755 OMIM:300068 ORPHA:709 OMIM:261540 ORPHA:199 ORPHA:140952 OMIM:300707 ORPHA:2554 ORPHA:138 OMIM:214800 ORPHA:363611 ORPHA:3107 OMIM:180700 OMIM:616894 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:606056 OMIM:122470 ORPHA:1507 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:614813 OMIM:201750 OMIM:305600 OMIM:618419 ORPHA:2510 OMIM:614222 OMIM:614225 OMIM:618577 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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