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:0100587	HP:0100587	Abnormal preputium morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0100587	HP:0100587	Abnormal preputium morphology	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias		125
HP:0100587	HP:0100587	Abnormal preputium morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0100587	HP:0100587	Abnormal preputium morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0100587	HP:0100587	Abnormal preputium morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0100587	HP:0100587	Abnormal preputium morphology	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0100587	HP:0100587	Abnormal preputium morphology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0100587	HP:0100587	Abnormal preputium morphology	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0100587	HP:0100587	Abnormal preputium morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0100587	HP:0100587	Abnormal preputium morphology	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0100587	HP:0100587	Abnormal preputium morphology	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0100587	HP:0100587	Abnormal preputium morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0100587	HP:0100587	Abnormal preputium morphology	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias		5
HP:0100587	HP:0100587	Abnormal preputium morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0100587	HP:0100587	Abnormal preputium morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0100587	HP:0100587	Abnormal preputium morphology	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0100587	HP:0100587	Abnormal preputium morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0100587	HP:0100587	Abnormal preputium morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0100587	HP:0100587	Abnormal preputium morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0100587	HP:0100587	Abnormal preputium morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0100587	HP:0100587	Abnormal preputium morphology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0100587	HP:0100587	Abnormal preputium morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0100587	HP:0100587	Abnormal preputium morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0100587	HP:0100587	Abnormal preputium morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0100587	HP:0100588	Paraphimosis	1	CL E G H
HP:0100587	HP:0012421	Congenital absence of foreskin	1	CL E G H
HP:0100587	HP:0001741	Phimosis	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0100587	HP:0012435	Ventral shortening of foreskin	1	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040282 - Frequent	125
HP:0100587	HP:0001741	Phimosis	1	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0100587	HP:0001741	Phimosis	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0100587	HP:0001741	Phimosis	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0100587	HP:0001741	Phimosis	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0100587	HP:0001741	Phimosis	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0100587	HP:0001741	Phimosis	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0100587	HP:0012435	Ventral shortening of foreskin	1	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040282 - Frequent	5
HP:0100587	HP:0001741	Phimosis	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0100587	HP:0001741	Phimosis	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0100587	HP:0001741	Phimosis	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0100587	HP:0001741	Phimosis	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9