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:0005306	HP:0005306	Capillary hemangioma	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0005306	HP:0005306	Capillary hemangioma	0	ANTXR1 CL E G H	84168	21014	OMIM:602089	Hemangioma, capillary infantile	.	8
HP:0005306	HP:0005306	Capillary hemangioma	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0005306	HP:0005306	Capillary hemangioma	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0005306	HP:0005306	Capillary hemangioma	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0005306	HP:0005306	Capillary hemangioma	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0005306	HP:0005306	Capillary hemangioma	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0005306	HP:0005306	Capillary hemangioma	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0005306	HP:0005306	Capillary hemangioma	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0005306	HP:0005306	Capillary hemangioma	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0005306	HP:0005306	Capillary hemangioma	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0005306	HP:0005306	Capillary hemangioma	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0005306	HP:0005306	Capillary hemangioma	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0005306	HP:0005306	Capillary hemangioma	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0005306	HP:0005306	Capillary hemangioma	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0005306	HP:0005306	Capillary hemangioma	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation		3
HP:0005306	HP:0005306	Capillary hemangioma	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0005306	HP:0005306	Capillary hemangioma	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0005306	HP:0005306	Capillary hemangioma	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0005306	HP:0005306	Capillary hemangioma	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0005306	HP:0005306	Capillary hemangioma	0	FLT4 CL E G H	2324	3767	OMIM:602089	Hemangioma, capillary infantile	.	90
HP:0005306	HP:0005306	Capillary hemangioma	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0005306	HP:0005306	Capillary hemangioma	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0005306	HP:0005306	Capillary hemangioma	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0005306	HP:0005306	Capillary hemangioma	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0005306	HP:0005306	Capillary hemangioma	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040281 - Very frequent	7
HP:0005306	HP:0005306	Capillary hemangioma	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0005306	HP:0005306	Capillary hemangioma	0	KDR CL E G H	3791	6307	OMIM:602089	Hemangioma, capillary infantile	.	40
HP:0005306	HP:0005306	Capillary hemangioma	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0005306	HP:0005306	Capillary hemangioma	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0005306	HP:0005306	Capillary hemangioma	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0005306	HP:0005306	Capillary hemangioma	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0005306	HP:0005306	Capillary hemangioma	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent	948
HP:0005306	HP:0005306	Capillary hemangioma	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0005306	HP:0005306	Capillary hemangioma	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0005306	HP:0005306	Capillary hemangioma	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation		88
HP:0005306	HP:0005306	Capillary hemangioma	0	RASA1 CL E G H	5921	9871	OMIM:608354	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1		88
HP:0005306	HP:0005306	Capillary hemangioma	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0005306	HP:0005306	Capillary hemangioma	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0005306	HP:0005306	Capillary hemangioma	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0005306	HP:0005306	Capillary hemangioma	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040282 - Frequent	2
HP:0005306	HP:0005306	Capillary hemangioma	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0005306	HP:0005306	Capillary hemangioma	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0005306	HP:0005306	Capillary hemangioma	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0005306	HP:0005306	Capillary hemangioma	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0005306	HP:0500090	Periocular capillary hemangioma	1	CL E G H
HP:0005306	HP:0005954	Pulmonary capillary hemangiomatosis	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0005306	HP:0000996	Facial capillary hemangioma	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0005306	HP:0000996	Facial capillary hemangioma	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0005306	HP:0000996	Facial capillary hemangioma	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0005306	HP:0005954	Pulmonary capillary hemangiomatosis	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent	40
HP:0005306	HP:0005954	Pulmonary capillary hemangiomatosis	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0005306	HP:0000996	Facial capillary hemangioma	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	3
HP:0005306	HP:0000996	Facial capillary hemangioma	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0005306	HP:0000996	Facial capillary hemangioma	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0005306	HP:0000996	Facial capillary hemangioma	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0005306	HP:0000996	Facial capillary hemangioma	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0005306	HP:0000996	Facial capillary hemangioma	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0005306	HP:0000996	Facial capillary hemangioma	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0005306	HP:0000996	Facial capillary hemangioma	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0005306	HP:0000996	Facial capillary hemangioma	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	88
HP:0005306	HP:0000996	Facial capillary hemangioma	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0005306	HP:0000996	Facial capillary hemangioma	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0005306	HP:0005954	Pulmonary capillary hemangiomatosis	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490
HP:0005306	HP:0007601	Midline facial capillary hemangioma	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0005306	HP:0007452	Midface capillary hemangioma	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0005306	HP:0007452	Midface capillary hemangioma	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0005306	HP:0007601	Midline facial capillary hemangioma	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0005306	HP:0007601	Midline facial capillary hemangioma	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0005306	HP:0007466	Midfrontal capillary hemangioma	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0005306	HP:0007466	Midfrontal capillary hemangioma	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0005306	HP:0007452	Midface capillary hemangioma	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445