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:
Abnormal venous morphology (HP:0002624)

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

Parent Node:
Prominent superficial veins (HP:0001015)

..Starting node
..Prominent veins on trunk (HP:0007457)

Term ID:

7457

Name:

Prominent veins on trunk

Synonym:

Definition:

Prominent thoracic and abdominal veins.

Comments:

Reference:

HP:0007457

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dilated superficial abdominal veins (HP:0030168)

Lateral venous anomaly (HP:0100885)

Prominent scalp veins (HP:0001043)

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:0007457	HP:0007457	Prominent veins on trunk	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0007457	HP:0007457	Prominent veins on trunk	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0007457	HP:0007457	Prominent veins on trunk	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0007457	HP:0007457	Prominent veins on trunk	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0007457	HP:0007457	Prominent veins on trunk	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0007457	HP:0007457	Prominent veins on trunk	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040284 - Very rare	42

Genes (5) :AEBP1 ATP6V0A2 ATP6V1A ATP6V1E1 PPARG

Diseases (4) :ORPHA:536532 ORPHA:357074 ORPHA:2834 ORPHA:79083

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.