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 labia morphology (HP:0000058)

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

Parent Node:
Abnormal labia minora morphology (HP:0012880)

Parent Node:
Labial hypoplasia (HP:0000066)

..Starting node
..Hypoplastic labia minora (HP:0000064)

Term ID:

Name:

Hypoplastic labia minora

Synonym:

Underdeveloped inner lips

Definition:

Comments:

Reference:

HP:0000064

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic labia majora (HP:0000059)

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:0000064	HP:0000064	Hypoplastic labia minora	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0000064	HP:0000064	Hypoplastic labia minora	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0000064	HP:0000064	Hypoplastic labia minora	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0000064	HP:0000064	Hypoplastic labia minora	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0000064	HP:0000064	Hypoplastic labia minora	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0000064	HP:0000064	Hypoplastic labia minora	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0000064	HP:0000064	Hypoplastic labia minora	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000064	HP:0000064	Hypoplastic labia minora	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000064	HP:0000064	Hypoplastic labia minora	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0000064	HP:0000064	Hypoplastic labia minora	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000064	HP:0000064	Hypoplastic labia minora	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000064	HP:0000064	Hypoplastic labia minora	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0000064	HP:0000064	Hypoplastic labia minora	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000064	HP:0000064	Hypoplastic labia minora	0	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:0000064	HP:0000064	Hypoplastic labia minora	0	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:0000064	HP:0000064	Hypoplastic labia minora	0	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:0000064	HP:0000064	Hypoplastic labia minora	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000064	HP:0000064	Hypoplastic labia minora	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000064	HP:0000064	Hypoplastic labia minora	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0000064	HP:0000064	Hypoplastic labia minora	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000064	HP:0000064	Hypoplastic labia minora	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000064	HP:0000064	Hypoplastic labia minora	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000064	HP:0000064	Hypoplastic labia minora	0	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:0000064	HP:0000064	Hypoplastic labia minora	0	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:0000064	HP:0000064	Hypoplastic labia minora	0	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:0000064	HP:0000064	Hypoplastic labia minora	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0000064	HP:0000064	Hypoplastic labia minora	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000064	HP:0000064	Hypoplastic labia minora	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0000064	HP:0000064	Hypoplastic labia minora	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0000064	HP:0000064	Hypoplastic labia minora	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000064	HP:0000064	Hypoplastic labia minora	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000064	HP:0000064	Hypoplastic labia minora	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000064	HP:0000064	Hypoplastic labia minora	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0000064	HP:0000064	Hypoplastic labia minora	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000064	HP:0000064	Hypoplastic labia minora	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0000064	HP:0000064	Hypoplastic labia minora	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0000064	HP:0000064	Hypoplastic labia minora	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000064	HP:0000064	Hypoplastic labia minora	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0000064	HP:0000064	Hypoplastic labia minora	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000064	HP:0000064	Hypoplastic labia minora	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000064	HP:0000064	Hypoplastic labia minora	0	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:0000064	HP:0000064	Hypoplastic labia minora	0	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:0000064	HP:0000064	Hypoplastic labia minora	0	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:0000064	HP:0000064	Hypoplastic labia minora	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0000064	HP:0000064	Hypoplastic labia minora	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000064	HP:0000064	Hypoplastic labia minora	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98

Genes (33) :ACTB CDC45 CDC6 CDT1 DVL1 DVL3 FZD2 GAD1 GMNN HERC2 IPW MAGEL2 MKRN3 MKRN3-AS1 NDN NPAP1 OCA2 ORC1 ORC4 ORC6 PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 SETBP1 SIM1 SNORD115-1 SNORD116-1 SNRPN TBC1D20 TWIST2 WNT5A

Diseases (16) :ORPHA:64755 ORPHA:2554 ORPHA:3107 OMIM:619124 OMIM:176270 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:224690 OMIM:613803 ORPHA:2510 OMIM:614222 OMIM:269150 ORPHA:398079 OMIM:209885

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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