Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Decreased fertility (HP:0000144)

Parent Node:
Decreased fertility in females (HP:0000868)

Parent Node:
Infertility (HP:0000789)

..Starting node
..Female infertility (HP:0008222)

Term ID:

8222

Name:

Female infertility

Synonym:

Female infertility

Definition:

Comments:

Reference:

HP:0008222

Genes and Diseases:

Child Nodes:

Sister Nodes:

Male infertility (HP:0003251)

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:0008222	HP:0008222	Female infertility	0	ASTL CL E G H	431705	31704	OMIM:619643	OOCYTE MATURATION DEFECT 11; OOMD11
HP:0008222	HP:0008222	Female infertility	0	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0008222	HP:0008222	Female infertility	0	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0008222	HP:0008222	Female infertility	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	36
HP:0008222	HP:0008222	Female infertility	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	126
HP:0008222	HP:0008222	Female infertility	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	182
HP:0008222	HP:0008222	Female infertility	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0008222	HP:0008222	Female infertility	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0008222	HP:0008222	Female infertility	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0008222	HP:0008222	Female infertility	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	116
HP:0008222	HP:0008222	Female infertility	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	78
HP:0008222	HP:0008222	Female infertility	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	63
HP:0008222	HP:0008222	Female infertility	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	27
HP:0008222	HP:0008222	Female infertility	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	62
HP:0008222	HP:0008222	Female infertility	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0008222	HP:0008222	Female infertility	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	542
HP:0008222	HP:0008222	Female infertility	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	527
HP:0008222	HP:0008222	Female infertility	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	18
HP:0008222	HP:0008222	Female infertility	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	73
HP:0008222	HP:0008222	Female infertility	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	104
HP:0008222	HP:0008222	Female infertility	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	2
HP:0008222	HP:0008222	Female infertility	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	167
HP:0008222	HP:0008222	Female infertility	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	44
HP:0008222	HP:0008222	Female infertility	0	FBXO43 CL E G H	286151	28521	OMIM:619697	OOCYTE MATURATION DEFECT 12; OOMD12
HP:0008222	HP:0008222	Female infertility	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0008222	HP:0008222	Female infertility	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0008222	HP:0008222	Female infertility	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0008222	HP:0008222	Female infertility	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	1
HP:0008222	HP:0008222	Female infertility	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	9
HP:0008222	HP:0008222	Female infertility	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0008222	HP:0008222	Female infertility	0	HSF2BP CL E G H	11077	5226	OMIM:619245	PREMATURE OVARIAN FAILURE 19; POF19		1
HP:0008222	HP:0008222	Female infertility	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0008222	HP:0008222	Female infertility	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	13
HP:0008222	HP:0008222	Female infertility	0	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3
HP:0008222	HP:0008222	Female infertility	0	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0008222	HP:0008222	Female infertility	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0008222	HP:0008222	Female infertility	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	50
HP:0008222	HP:0008222	Female infertility	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	201
HP:0008222	HP:0008222	Female infertility	0	PANX1 CL E G H	24145	8599	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate	1
HP:0008222	HP:0008222	Female infertility	0	PANX1 CL E G H	24145	8599	OMIM:618550	OOCYTE MATURATION DEFECT 7; OOMD7		1
HP:0008222	HP:0008222	Female infertility	0	PATL2 CL E G H	197135	33630	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate
HP:0008222	HP:0008222	Female infertility	0	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4
HP:0008222	HP:0008222	Female infertility	0	PGR CL E G H	5241	8910	OMIM:264080	Progesterone resistance	.
HP:0008222	HP:0008222	Female infertility	0	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0008222	HP:0008222	Female infertility	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0008222	HP:0008222	Female infertility	0	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0008222	HP:0008222	Female infertility	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	200
HP:0008222	HP:0008222	Female infertility	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	31
HP:0008222	HP:0008222	Female infertility	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	5
HP:0008222	HP:0008222	Female infertility	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	58
HP:0008222	HP:0008222	Female infertility	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0008222	HP:0008222	Female infertility	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	45
HP:0008222	HP:0008222	Female infertility	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	15
HP:0008222	HP:0008222	Female infertility	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	3
HP:0008222	HP:0008222	Female infertility	0	TLE6 CL E G H	79816	30788	OMIM:616814	Preimplantation embryonic lethality 1		1
HP:0008222	HP:0008222	Female infertility	0	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9		2
HP:0008222	HP:0008222	Female infertility	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0008222	HP:0008222	Female infertility	0	TUBB8 CL E G H	347688	20773	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate	10
HP:0008222	HP:0008222	Female infertility	0	TUBB8 CL E G H	347688	20773	OMIM:616780	Oocyte maturation defect 2		10
HP:0008222	HP:0008222	Female infertility	0	WEE2 CL E G H	494551	19684	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate
HP:0008222	HP:0008222	Female infertility	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0008222	HP:0008222	Female infertility	0	ZP1 CL E G H	22917	13187	OMIM:615774	Oocyte maturation defect		1
HP:0008222	HP:0008222	Female infertility	0	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0008222	HP:0008222	Female infertility	0	ZP3 CL E G H	7784	13189	OMIM:617712	Oocyte maturation defect 3

Genes (72) :ASTL BTG4 C11ORF80 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CYP19A1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FBXO43 FIGLA FOXJ1 FOXL2 GAS2L2 GAS8 GGPS1 HSF2BP HYDIN LRRC56 MCIDAS MEI1 MSH4 MSH5 NEK10 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PANX1 PATL2 PGR POF1B PSMC3IP REC114 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TLE6 TRIP13 TTC12 TUBB8 WEE2 ZMYND10 ZP1 ZP2 ZP3

Diseases (27) :OMIM:619643 OMIM:619009 OMIM:618432 ORPHA:244 ORPHA:91 OMIM:619697 OMIM:612310 OMIM:110100 ORPHA:572333 OMIM:619518 OMIM:619245 OMIM:618431 OMIM:619938 OMIM:617442 ORPHA:488191 OMIM:618550 OMIM:617743 OMIM:264080 OMIM:300604 OMIM:614324 OMIM:619176 OMIM:616814 OMIM:619011 OMIM:616780 OMIM:615774 OMIM:618353 OMIM:617712

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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