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:
Abnormality of the clitoris (HP:0000056)

..Starting node
..Aplasia/Hypoplasia of the clitoris (HP:0040255)

Term ID:

40255

Name:

Aplasia/Hypoplasia of the clitoris

Synonym:

Definition:

Comments:

Reference:

HP:0040255

Genes and Diseases:

Child Nodes:

........

Clitoral hypoplasia (HP:0000060)

Sister Nodes:

Abnormal size of the clitoris (HP:0040252)

Bifid clitoris (HP:0030911)

Duplicated clitoris (HP:0030912)

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:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0040255	HP:0040255	Aplasia/Hypoplasia of the clitoris	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0040255	HP:0000060	Clitoral hypoplasia	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0040255	HP:0000060	Clitoral hypoplasia	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0040255	HP:0000060	Clitoral hypoplasia	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0040255	HP:0000060	Clitoral hypoplasia	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0040255	HP:0000060	Clitoral hypoplasia	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0040255	HP:0000060	Clitoral hypoplasia	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0040255	HP:0000060	Clitoral hypoplasia	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0040255	HP:0000060	Clitoral hypoplasia	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0040255	HP:0000060	Clitoral hypoplasia	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0040255	HP:0000060	Clitoral hypoplasia	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0040255	HP:0000060	Clitoral hypoplasia	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0040255	HP:0000060	Clitoral hypoplasia	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0040255	HP:0000060	Clitoral hypoplasia	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0040255	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:0040255	HP:0000060	Clitoral hypoplasia	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0040255	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:0040255	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:0040255	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:0040255	HP:0000060	Clitoral hypoplasia	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0040255	HP:0000060	Clitoral hypoplasia	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0040255	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:0040255	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:0040255	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:0040255	HP:0000060	Clitoral hypoplasia	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0040255	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:0040255	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:0040255	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:0040255	HP:0000060	Clitoral hypoplasia	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0040255	HP:0000060	Clitoral hypoplasia	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0040255	HP:0000060	Clitoral hypoplasia	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0040255	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:0040255	HP:0000060	Clitoral hypoplasia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0040255	HP:0000060	Clitoral hypoplasia	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0040255	HP:0000060	Clitoral hypoplasia	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0040255	HP:0000060	Clitoral hypoplasia	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0040255	HP:0000060	Clitoral hypoplasia	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0040255	HP:0000060	Clitoral hypoplasia	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0040255	HP:0000060	Clitoral hypoplasia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0040255	HP:0000060	Clitoral hypoplasia	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0040255	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:0040255	HP:0000060	Clitoral hypoplasia	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0040255	HP:0000060	Clitoral hypoplasia	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0040255	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:0040255	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:0040255	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:0040255	HP:0000060	Clitoral hypoplasia	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0040255	HP:0000060	Clitoral hypoplasia	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0040255	HP:0000060	Clitoral hypoplasia	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98

Genes (34) :B3GLCT CDC45 CDC6 CDT1 DVL1 DVL3 FZD2 GMNN HERC2 IPW MAGEL2 MKRN3 MKRN3-AS1 NDN NPAP1 OCA2 ORC1 ORC4 ORC6 POC1A PORCN PPP2R3C PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 ROR2 SIM1 SNORD115-1 SNORD116-1 SNRPN TBC1D20 WNT5A

Diseases (17) :ORPHA:709 OMIM:261540 ORPHA:2554 ORPHA:3107 OMIM:180700 OMIM:616894 OMIM:176270 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:614813 OMIM:305600 OMIM:618419 ORPHA:2510 OMIM:268310 ORPHA:398079

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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