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 the clitoris (HP:0000056)

Parent Node:
Abnormal size of the clitoris (HP:0040252)

..Starting node
..Increased size of the clitoris (HP:0040253)

Term ID:

40253

Name:

Increased size of the clitoris

Synonym:

Definition:

Comments:

Reference:

HP:0040253

Genes and Diseases:

Child Nodes:

........

Clitoral hypertrophy (HP:0008665)

Sister Nodes:

Decreased size of the clitoris (HP:0040254)

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:0040253	HP:0040253	Increased size of the clitoris	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0040253	HP:0040253	Increased size of the clitoris	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0040253	HP:0040253	Increased size of the clitoris	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0040253	HP:0040253	Increased size of the clitoris	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0040253	HP:0040253	Increased size of the clitoris	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria		4
HP:0040253	HP:0040253	Increased size of the clitoris	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0040253	HP:0040253	Increased size of the clitoris	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0040253	HP:0040253	Increased size of the clitoris	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0040253	HP:0040253	Increased size of the clitoris	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0040253	HP:0040253	Increased size of the clitoris	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0040253	HP:0040253	Increased size of the clitoris	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0040253	HP:0040253	Increased size of the clitoris	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0040253	HP:0040253	Increased size of the clitoris	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0040253	HP:0040253	Increased size of the clitoris	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0040253	HP:0040253	Increased size of the clitoris	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0040253	HP:0040253	Increased size of the clitoris	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0040253	HP:0040253	Increased size of the clitoris	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0040253	HP:0040253	Increased size of the clitoris	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0040253	HP:0040253	Increased size of the clitoris	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0040253	HP:0040253	Increased size of the clitoris	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0040253	HP:0040253	Increased size of the clitoris	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0040253	HP:0040253	Increased size of the clitoris	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0040253	HP:0040253	Increased size of the clitoris	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0040253	HP:0040253	Increased size of the clitoris	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0040253	HP:0040253	Increased size of the clitoris	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0040253	HP:0040253	Increased size of the clitoris	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0040253	HP:0040253	Increased size of the clitoris	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0040253	HP:0040253	Increased size of the clitoris	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0040253	HP:0040253	Increased size of the clitoris	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0040253	HP:0040253	Increased size of the clitoris	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0040253	HP:0040253	Increased size of the clitoris	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0040253	HP:0040253	Increased size of the clitoris	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome		175
HP:0040253	HP:0040253	Increased size of the clitoris	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0040253	HP:0040253	Increased size of the clitoris	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0040253	HP:0040253	Increased size of the clitoris	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0040253	HP:0040253	Increased size of the clitoris	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0040253	HP:0040253	Increased size of the clitoris	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0040253	HP:0040253	Increased size of the clitoris	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0040253	HP:0040253	Increased size of the clitoris	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0040253	HP:0040253	Increased size of the clitoris	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0040253	HP:0040253	Increased size of the clitoris	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0040253	HP:0040253	Increased size of the clitoris	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0040253	HP:0040253	Increased size of the clitoris	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0040253	HP:0040253	Increased size of the clitoris	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0040253	HP:0040253	Increased size of the clitoris	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities		229
HP:0040253	HP:0040253	Increased size of the clitoris	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0040253	HP:0040253	Increased size of the clitoris	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0040253	HP:0040253	Increased size of the clitoris	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0040253	HP:0040253	Increased size of the clitoris	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0040253	HP:0040253	Increased size of the clitoris	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6		13
HP:0040253	HP:0040253	Increased size of the clitoris	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0040253	HP:0040253	Increased size of the clitoris	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0040253	HP:0040253	Increased size of the clitoris	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0040253	HP:0040253	Increased size of the clitoris	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0040253	HP:0040253	Increased size of the clitoris	0	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4		38
HP:0040253	HP:0040253	Increased size of the clitoris	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0040253	HP:0040253	Increased size of the clitoris	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0040253	HP:0040253	Increased size of the clitoris	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0040253	HP:0040253	Increased size of the clitoris	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0040253	HP:0040253	Increased size of the clitoris	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0040253	HP:0040253	Increased size of the clitoris	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0040253	HP:0040253	Increased size of the clitoris	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0040253	HP:0040253	Increased size of the clitoris	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0040253	HP:0040253	Increased size of the clitoris	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0040253	HP:0040253	Increased size of the clitoris	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0040253	HP:0040253	Increased size of the clitoris	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0040253	HP:0040253	Increased size of the clitoris	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0040253	HP:0040253	Increased size of the clitoris	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0040253	HP:0040253	Increased size of the clitoris	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0040253	HP:0040253	Increased size of the clitoris	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0040253	HP:0040253	Increased size of the clitoris	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0040253	HP:0040253	Increased size of the clitoris	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0040253	HP:0040253	Increased size of the clitoris	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0040253	HP:0040253	Increased size of the clitoris	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0040253	HP:0040253	Increased size of the clitoris	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0040253	HP:0040253	Increased size of the clitoris	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0040253	HP:0040253	Increased size of the clitoris	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0040253	HP:0040253	Increased size of the clitoris	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type		13
HP:0040253	HP:0040253	Increased size of the clitoris	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0040253	HP:0040253	Increased size of the clitoris	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0040253	HP:0040253	Increased size of the clitoris	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0040253	HP:0040253	Increased size of the clitoris	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0040253	HP:0040253	Increased size of the clitoris	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0040253	HP:0040253	Increased size of the clitoris	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0040253	HP:0008665	Clitoral hypertrophy	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0040253	HP:0008665	Clitoral hypertrophy	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0040253	HP:0008665	Clitoral hypertrophy	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent	4
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0040253	HP:0008665	Clitoral hypertrophy	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0040253	HP:0008665	Clitoral hypertrophy	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	HP:0040283 - Occasional	146
HP:0040253	HP:0008665	Clitoral hypertrophy	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0040253	HP:0008665	Clitoral hypertrophy	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040283 - Occasional	31
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040283 - Occasional	31
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0040253	HP:0008665	Clitoral hypertrophy	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0040253	HP:0008665	Clitoral hypertrophy	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0040253	HP:0008665	Clitoral hypertrophy	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0040253	HP:0008665	Clitoral hypertrophy	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0040253	HP:0008665	Clitoral hypertrophy	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0040253	HP:0008665	Clitoral hypertrophy	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0040253	HP:0008665	Clitoral hypertrophy	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0040253	HP:0008665	Clitoral hypertrophy	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0040253	HP:0008665	Clitoral hypertrophy	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0040253	HP:0008665	Clitoral hypertrophy	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0040253	HP:0008665	Clitoral hypertrophy	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0040253	HP:0008665	Clitoral hypertrophy	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0040253	HP:0008665	Clitoral hypertrophy	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0040253	HP:0008665	Clitoral hypertrophy	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0040253	HP:0008665	Clitoral hypertrophy	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0040253	HP:0008665	Clitoral hypertrophy	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0040253	HP:0008665	Clitoral hypertrophy	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0040253	HP:0008665	Clitoral hypertrophy	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent	229
HP:0040253	HP:0008665	Clitoral hypertrophy	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0040253	HP:0008665	Clitoral hypertrophy	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0040253	HP:0008665	Clitoral hypertrophy	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0040253	HP:0008665	Clitoral hypertrophy	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0040253	HP:0008665	Clitoral hypertrophy	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0040253	HP:0008665	Clitoral hypertrophy	1	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	HP:0040283 - Occasional	13
HP:0040253	HP:0008665	Clitoral hypertrophy	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0040253	HP:0008665	Clitoral hypertrophy	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0040253	HP:0008665	Clitoral hypertrophy	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0040253	HP:0008665	Clitoral hypertrophy	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0040253	HP:0008665	Clitoral hypertrophy	1	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4	.	38
HP:0040253	HP:0008665	Clitoral hypertrophy	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0040253	HP:0008665	Clitoral hypertrophy	1	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0040253	HP:0008665	Clitoral hypertrophy	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0040253	HP:0008665	Clitoral hypertrophy	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0040253	HP:0008665	Clitoral hypertrophy	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0040253	HP:0008665	Clitoral hypertrophy	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0040253	HP:0008665	Clitoral hypertrophy	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0040253	HP:0008665	Clitoral hypertrophy	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0040253	HP:0008665	Clitoral hypertrophy	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0040253	HP:0008665	Clitoral hypertrophy	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0040253	HP:0008665	Clitoral hypertrophy	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0040253	HP:0008665	Clitoral hypertrophy	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0040253	HP:0008665	Clitoral hypertrophy	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0040253	HP:0008665	Clitoral hypertrophy	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040283 - Occasional	13
HP:0040253	HP:0008665	Clitoral hypertrophy	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0040253	HP:0008665	Clitoral hypertrophy	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0040253	HP:0008665	Clitoral hypertrophy	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0040253	HP:0008665	Clitoral hypertrophy	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0040253	HP:0008665	Clitoral hypertrophy	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0040253	HP:0008665	Clitoral hypertrophy	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31

Genes (70) :AGPAT2 AR ARID1B ATIC ATR BSCL2 CAV1 CAVIN1 CCNQ CD96 CDC45 CDC6 CDT1 CEP152 COX7B CYP11A1 CYP11B1 DHCR7 DHX37 DMRT3 ESCO2 FDXR FGFR2 FIG4 FOS FRAS1 GAD1 GATA4 GMNN HCCS HSD3B2 INSR KAT6B MAP3K1 MINPP1 NDUFB11 NR0B1 NR5A1 ORC1 ORC4 ORC6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 POR PPARG PPP1R12A RSPO1 SOX9 SRY TALDO1 TOE1 TRAIP UBE3B UBR1 VAC14 VAMP7 WT1 WWOX ZFPM2

Diseases (59) :ORPHA:528 OMIM:608594 ORPHA:90797 OMIM:135900 ORPHA:250977 OMIM:608688 OMIM:210600 OMIM:269700 ORPHA:140952 OMIM:300707 OMIM:211750 ORPHA:2554 OMIM:617063 OMIM:613823 ORPHA:2556 OMIM:309801 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90795 ORPHA:818 ORPHA:251510 OMIM:268300 ORPHA:3103 ORPHA:543470 OMIM:614592 ORPHA:313855 ORPHA:3472 OMIM:219000 OMIM:619124 ORPHA:90791 OMIM:246200 ORPHA:508 OMIM:262190 ORPHA:769 OMIM:606170 ORPHA:85201 OMIM:613762 ORPHA:284339 OMIM:617480 OMIM:612965 OMIM:612964 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:214100 ORPHA:912 OMIM:614866 OMIM:214110 OMIM:201750 ORPHA:95699 OMIM:618820 OMIM:610644 OMIM:400045 OMIM:606003 OMIM:616777 OMIM:244450 ORPHA:2707 OMIM:243800

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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