Human Phenotype Ontology

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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:
Vascular skin abnormality (HP:0011276)

Parent Node:
Abnormal venous morphology (HP:0002624)

Parent Node:
Prominent superficial blood vessels (HP:0007394)

..Starting node
..Prominent superficial veins (HP:0001015)

Term ID:

1015

Name:

Prominent superficial veins

Synonym:

Marked subcutaneous veins; Prominent veins

Definition:

A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.

Comments:

Reference:

HP:0001015

Genes and Diseases:

Child Nodes:

........

Prominent scalp veins (HP:0001043)

........

Prominent veins on trunk (HP:0007457)

........

Dilated superficial abdominal veins (HP:0030168)

................... HP:0025203 Caput medusae

........

Lateral venous anomaly (HP:0100885)

Sister Nodes:

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

Genes (29) :AEBP1 AGPAT2 ANTXR1 ATP6V0A2 ATP6V1A ATP6V1E1 BANF1 BSCL2 C1R CAV1 CAVIN1 COG4 FLT4 FOS G6PC3 GPR35 LEMD2 LMNA MST1 POLR3A PPARG PPP1R15B PTDSS1 PYCR1 SEMA4D SLC25A24 SLC39A13 TCF4 ZMPSTE24

Diseases (26) :ORPHA:536532 OMIM:618000 ORPHA:528 OMIM:230740 ORPHA:357074 ORPHA:2834 OMIM:614008 OMIM:130080 OMIM:618150 OMIM:153100 OMIM:612541 ORPHA:171 OMIM:619322 ORPHA:79474 OMIM:151660 OMIM:264090 ORPHA:3455 OMIM:604367 ORPHA:79083 OMIM:616817 OMIM:151050 OMIM:612940 OMIM:614438 OMIM:612289 OMIM:612350 OMIM:608612

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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