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
..Dilated superficial abdominal veins (HP:0030168)

Term ID:

30168

Name:

Dilated superficial abdominal veins

Synonym:

Dilatation of the superficial abdominal veins

Definition:

Increase in diameter of the veins located underneath the skin of the abdomen.

Comments:

Reference:

HP:0030168

Genes and Diseases:

Child Nodes:

........

Caput medusae (HP:0025203)

Sister Nodes:

Lateral venous anomaly (HP:0100885)

Prominent scalp veins (HP:0001043)

Prominent veins on trunk (HP:0007457)

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:0030168	HP:0030168	Dilated superficial abdominal veins	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0030168	HP:0030168	Dilated superficial abdominal veins	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0030168	HP:0030168	Dilated superficial abdominal veins	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0030168	HP:0030168	Dilated superficial abdominal veins	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0030168	HP:0025203	Caput medusae	1	CL E G H

Genes (4) :GPR35 MST1 SEMA4D TCF4

Diseases (1) :ORPHA:171

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