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 ovary (HP:0000137)

Parent Node:
Abnormal ovarian morphology (HP:0031065)

..Starting node
..Aplasia/Hypoplasia of the ovary (HP:0010462)

Term ID:

10462

Name:

Aplasia/Hypoplasia of the ovary

Synonym:

Absent/small ovary; Absent/underdeveloped ovary

Definition:

Aplasia or developmental hypoplasia of the ovary.

Comments:

Reference:

HP:0010462

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the ovary (HP:0008724)

................... HP:0010464 Streak ovary

........

Aplasia of the ovary (HP:0010463)

Sister Nodes:

Ectopic ovary (HP:0031086)

Enlarged ovaries (HP:0100879)

Oophoritis (HP:0031259)

Ovarian cyst (HP:0000138)

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:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome		29
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome		1
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome		114
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome		118
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome		71
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome		97
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome		87
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome		25
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome		66
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome		119
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis		16
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome		1
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome		342
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7		21
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis		50
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2		29
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome		48
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome		1
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome		3
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome		4
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome		69
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome		127
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis		25
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5		40
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome		85
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis		38
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis		5
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome		61
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome		108
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome		41
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome		60
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome		177
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0010462	HP:0010462	Aplasia/Hypoplasia of the ovary	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0010462	HP:0010463	Aplasia of the ovary	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	29
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	1
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	114
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	118
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	71
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	97
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	87
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	25
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	66
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	119
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis		16
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	1
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	342
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	515
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7		21
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	4
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	17
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	172
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis		50
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	15
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	92
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2		29
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	8
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	48
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	1
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	3
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	14
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	4
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	69
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	127
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis		25
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5		40
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	85
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis		38
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis		5
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0010462	HP:0010463	Aplasia of the ovary	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	9
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0010462	HP:0010463	Aplasia of the ovary	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0010462	HP:0010463	Aplasia of the ovary	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	61
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	5
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0010462	HP:0010463	Aplasia of the ovary	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	108
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	41
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent	60
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	10
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome		177
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0010462	HP:0008724	Hypoplasia of the ovary	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0010462	HP:0010464	Streak ovary	2	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	16
HP:0010462	HP:0010464	Streak ovary	2	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0010462	HP:0010464	Streak ovary	2	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0010462	HP:0010464	Streak ovary	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0010462	HP:0010464	Streak ovary	2	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0010462	HP:0010464	Streak ovary	2	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	HP:0040282 - Frequent	21
HP:0010462	HP:0010464	Streak ovary	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010462	HP:0010464	Streak ovary	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0010462	HP:0010464	Streak ovary	2	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0010462	HP:0010464	Streak ovary	2	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0010462	HP:0010464	Streak ovary	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0010462	HP:0010464	Streak ovary	2	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	50
HP:0010462	HP:0010464	Streak ovary	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0010462	HP:0010464	Streak ovary	2	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2		29
HP:0010462	HP:0010464	Streak ovary	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0010462	HP:0010464	Streak ovary	2	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	25
HP:0010462	HP:0010464	Streak ovary	2	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5		40
HP:0010462	HP:0010464	Streak ovary	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0010462	HP:0010464	Streak ovary	2	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	38
HP:0010462	HP:0010464	Streak ovary	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0010462	HP:0010464	Streak ovary	2	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	5
HP:0010462	HP:0010464	Streak ovary	2	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0010462	HP:0010464	Streak ovary	2	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0010462	HP:0010464	Streak ovary	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010462	HP:0010464	Streak ovary	2	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0010462	HP:0010464	Streak ovary	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0010462	HP:0010464	Streak ovary	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0010462	HP:0010464	Streak ovary	2	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0010462	HP:0010464	Streak ovary	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0010462	HP:0010464	Streak ovary	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0010462	HP:0010464	Streak ovary	2	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0010462	HP:0010464	Streak ovary	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010462	HP:0010464	Streak ovary	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0010462	HP:0010464	Streak ovary	2	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040282 - Frequent	177
HP:0010462	HP:0010464	Streak ovary	2	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0010462	HP:0010464	Streak ovary	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0010462	HP:0010464	Streak ovary	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0010462	HP:0010464	Streak ovary	2	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0010462	HP:0010464	Streak ovary	2	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (86) :ALG9 AR ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BMP15 BNC1 C14ORF39 CEP19 CEP290 CFAP418 CHD7 DCAF17 DHH DHX37 DMRT3 DUSP6 ERAL1 FGF17 FGF8 FGFR1 FIGLA FOXL2 FSHR GATA4 GNRH1 GNRHR HARS2 HS6ST1 IFT172 IFT27 IFT74 KISS1 KISS1R LARS2 LEP LEPR LZTFL1 MAP3K1 MCM8 MKKS MKS1 MRPS22 NDNF NOBOX NPHP1 NR0B1 NR5A1 NSMF NUP107 PAX6 PMM2 POLR3H PPP1R12A PROK2 PROKR2 PSMC3IP PTPN11 SCAPER SDCCAG8 SETBP1 SOX9 SPIDR SPRY4 SRY STAG3 TAC3 TACR3 TP63 TRIM32 TTC8 VAMP7 WDPCP WDR11 WT1 WWOX ZFPM2 ZPR1 ZSWIM7

Diseases (35) :ORPHA:79328 ORPHA:90797 ORPHA:110 ORPHA:243 OMIM:300510 OMIM:619203 ORPHA:432 ORPHA:3464 ORPHA:168563 OMIM:233420 ORPHA:251510 OMIM:617565 OMIM:612310 ORPHA:572333 OMIM:614841 OMIM:614926 OMIM:615300 ORPHA:66628 ORPHA:179494 OMIM:612885 OMIM:618841 OMIM:611548 OMIM:194072 ORPHA:79318 OMIM:618820 OMIM:614324 OMIM:151100 ORPHA:798 OMIM:619665 ORPHA:1772 OMIM:615723 ORPHA:69085 ORPHA:347 OMIM:619321 OMIM:619834

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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