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:
Abnormalities of placenta or umbilical cord (HP:0001194)

Parent Node:
Abnormality of the umbilical cord (HP:0010881)

..Starting node
..Umbilical vein varix (HP:0030656)

Term ID:

30656

Name:

Umbilical vein varix

Synonym:

Definition:

Focal dilation of the umbilical vein.

Comments:

Reference:

HP:0030656

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal insertion of umbilical cord (HP:0011418)

Abnormal umbilical cord blood vessel morphology (HP:0011403)

Long umbilical cord (HP:0011417)

Short umbilical cord (HP:0001196)

Umbilical cord cyst (HP:0030654)

Umbilical cord hematoma (HP:0030657)

Umbilical cord knot (HP:0030655)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030656	HP:0030656	Umbilical vein varix	0	CL E G H
HP:0030656	HP:0025690	Fetal intra-abdominal umbilical vein varix	1	CL E G H
HP:0030656	HP:0025689	Extra-abdominal umbilical vein varix	1	CL E G H

Genes (0) :

Diseases (0) :

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