Human Phenotype Ontology

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:0031515	HP:0031515	Abnormal meiosis	0	PANX1 CL E G H	24145	8599	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate	1
HP:0031515	HP:0031515	Abnormal meiosis	0	PATL2 CL E G H	197135	33630	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate
HP:0031515	HP:0031515	Abnormal meiosis	0	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4
HP:0031515	HP:0031515	Abnormal meiosis	0	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9		2
HP:0031515	HP:0031515	Abnormal meiosis	0	TUBB8 CL E G H	347688	20773	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate	10
HP:0031515	HP:0031515	Abnormal meiosis	0	TUBB8 CL E G H	347688	20773	OMIM:616780	Oocyte maturation defect 2		10
HP:0031515	HP:0031515	Abnormal meiosis	0	WEE2 CL E G H	494551	19684	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate
HP:0031515	HP:0033338	Abnormal female meiosis	1	PANX1 CL E G H	24145	8599	ORPHA:488191	Female infertility due to oocyte meiotic arrest		1
HP:0031515	HP:0033338	Abnormal female meiosis	1	PATL2 CL E G H	197135	33630	ORPHA:488191	Female infertility due to oocyte meiotic arrest
HP:0031515	HP:0033338	Abnormal female meiosis	1	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4
HP:0031515	HP:0033338	Abnormal female meiosis	1	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9		2
HP:0031515	HP:0033338	Abnormal female meiosis	1	TUBB8 CL E G H	347688	20773	ORPHA:488191	Female infertility due to oocyte meiotic arrest		10
HP:0031515	HP:0033338	Abnormal female meiosis	1	TUBB8 CL E G H	347688	20773	OMIM:616780	Oocyte maturation defect 2		10
HP:0031515	HP:0033338	Abnormal female meiosis	1	WEE2 CL E G H	494551	19684	ORPHA:488191	Female infertility due to oocyte meiotic arrest
HP:0031515	HP:0031516	Oocyte arrest at metaphase I	2	PANX1 CL E G H	24145	8599	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040282 - Frequent	1
HP:0031515	HP:0031516	Oocyte arrest at metaphase I	2	PATL2 CL E G H	197135	33630	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040282 - Frequent
HP:0031515	HP:0031516	Oocyte arrest at metaphase I	2	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4
HP:0031515	HP:0031516	Oocyte arrest at metaphase I	2	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9		2
HP:0031515	HP:0031516	Oocyte arrest at metaphase I	2	TUBB8 CL E G H	347688	20773	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040282 - Frequent	10
HP:0031515	HP:0031516	Oocyte arrest at metaphase I	2	TUBB8 CL E G H	347688	20773	OMIM:616780	Oocyte maturation defect 2		10
HP:0031515	HP:0031516	Oocyte arrest at metaphase I	2	WEE2 CL E G H	494551	19684	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040282 - Frequent