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 pericardium morphology (HP:0001697)

Parent Node:
Congenital defect of the pericardium (HP:0011628)

..Starting node
..Partial left sided absence of pericardium (HP:0011634)

Term ID:

11634

Name:

Partial left sided absence of pericardium

Synonym:

Definition:

A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.

Comments:

Reference:

HP:0011634

Genes and Diseases:

Child Nodes:

Sister Nodes:

Complete diaphragmatic absence of pericardium (HP:0011630)

Complete left sided absence of pericardium (HP:0011633)

Complete right sided absence of pericardium (HP:0011631)

Partial diaphragmatic absence of pericardium (HP:0011635)

Partial right sided absence of pericardium (HP:0011632)

Total absence of the pericardium (HP:0011629)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011634	HP:0011634	Partial left sided absence of pericardium	0	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.