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:0007394	HP:0007394	Prominent superficial blood vessels	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome		67
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0007394	HP:0007394	Prominent superficial blood vessels	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0007394	HP:0001015	Prominent superficial veins	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0007394	HP:0001015	Prominent superficial veins	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0007394	HP:0001015	Prominent superficial veins	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0007394	HP:0001015	Prominent superficial veins	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0007394	HP:0001015	Prominent superficial veins	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0007394	HP:0001015	Prominent superficial veins	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0007394	HP:0001015	Prominent superficial veins	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0007394	HP:0001015	Prominent superficial veins	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0007394	HP:0001015	Prominent superficial veins	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0007394	HP:0001015	Prominent superficial veins	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0007394	HP:0001015	Prominent superficial veins	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0007394	HP:0001015	Prominent superficial veins	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0007394	HP:0001015	Prominent superficial veins	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0007394	HP:0001015	Prominent superficial veins	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0007394	HP:0001015	Prominent superficial veins	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0007394	HP:0001015	Prominent superficial veins	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0007394	HP:0001015	Prominent superficial veins	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0007394	HP:0001015	Prominent superficial veins	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0007394	HP:0001015	Prominent superficial veins	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0007394	HP:0001015	Prominent superficial veins	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0007394	HP:0001015	Prominent superficial veins	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0007394	HP:0001015	Prominent superficial veins	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0007394	HP:0001015	Prominent superficial veins	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0007394	HP:0001015	Prominent superficial veins	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0007394	HP:0001015	Prominent superficial veins	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0007394	HP:0001015	Prominent superficial veins	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0007394	HP:0001015	Prominent superficial veins	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0007394	HP:0001015	Prominent superficial veins	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0007394	HP:0001015	Prominent superficial veins	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0007394	HP:0001015	Prominent superficial veins	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0007394	HP:0001015	Prominent superficial veins	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0007394	HP:0001015	Prominent superficial veins	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0007394	HP:0001015	Prominent superficial veins	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0007394	HP:0001015	Prominent superficial veins	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0007394	HP:0001015	Prominent superficial veins	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0007394	HP:0001015	Prominent superficial veins	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0007394	HP:0100885	Lateral venous anomaly	2	CL E G H
HP:0007394	HP:0007457	Prominent veins on trunk	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0007394	HP:0001043	Prominent scalp veins	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0007394	HP:0007457	Prominent veins on trunk	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0007394	HP:0007457	Prominent veins on trunk	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0007394	HP:0007457	Prominent veins on trunk	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0007394	HP:0007457	Prominent veins on trunk	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0007394	HP:0030168	Dilated superficial abdominal veins	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0007394	HP:0030168	Dilated superficial abdominal veins	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0007394	HP:0001043	Prominent scalp veins	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0007394	HP:0001043	Prominent scalp veins	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0007394	HP:0007457	Prominent veins on trunk	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040284 - Very rare	42
HP:0007394	HP:0001043	Prominent scalp veins	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0007394	HP:0030168	Dilated superficial abdominal veins	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0007394	HP:0030168	Dilated superficial abdominal veins	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0007394	HP:0025203	Caput medusae	3	CL E G H