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 heart morphology (HP:0001627)

Parent Node:
Abnormal pericardium morphology (HP:0001697)

..Starting node
..Congenital defect of the pericardium (HP:0011628)

Term ID:

11628

Name:

Congenital defect of the pericardium

Synonym:

Definition:

A developmental defect of the pericardium with congenital onset.

Comments:

Reference:

HP:0011628

Genes and Diseases:

Child Nodes:

........

Total absence of the pericardium (HP:0011629)

........

Complete diaphragmatic absence of pericardium (HP:0011630)

........

Complete right sided absence of pericardium (HP:0011631)

........

Partial right sided absence of pericardium (HP:0011632)

........

Complete left sided absence of pericardium (HP:0011633)

........

Partial left sided absence of pericardium (HP:0011634)

........

Partial diaphragmatic absence of pericardium (HP:0011635)

Sister Nodes:

Pericardial constriction (HP:0005132)

Pericardial effusion (HP:0001698)

Pericardial lymphangiectasia (HP:0005183)

Pericardial mesothelioma (HP:0100004)

Pericarditis (HP:0001701)

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:0011628	HP:0011628	Congenital defect of the pericardium	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0011628	HP:0011628	Congenital defect of the pericardium	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0011628	HP:0011632	Partial right sided absence of pericardium	1	CL E G H
HP:0011628	HP:0011631	Complete right sided absence of pericardium	1	CL E G H
HP:0011628	HP:0011630	Complete diaphragmatic absence of pericardium	1	CL E G H
HP:0011628	HP:0011635	Partial diaphragmatic absence of pericardium	1	CL E G H
HP:0011628	HP:0011634	Partial left sided absence of pericardium	1	CL E G H
HP:0011628	HP:0011633	Complete left sided absence of pericardium	1	CL E G H
HP:0011628	HP:0011629	Total absence of the pericardium	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37

Genes (1) :GATA6

Diseases (2) :OMIM:600001 ORPHA:2255

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