Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cardiac ventricle morphology (HP:0001713)

..Starting node
..Cardiac diverticulum (HP:0100571)

Term ID:

100571

Name:

Cardiac diverticulum

Synonym:

Ventricular diverticulum

Definition:

A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.

Comments:

Reference:

HP:0100571

Genes and Diseases:

Child Nodes:

........

Fibrous cardiac diverticulum (HP:0100572)

........

Muscular cardiac diverticulum (HP:0100573)

Sister Nodes:

Abnormal left ventricle morphology (HP:0001711)

Abnormal right ventricle morphology (HP:0001707)

Abnormal ventricular septum morphology (HP:0010438)

Dilatation of the ventricular cavity (HP:0006698)

Myocardial calcification (HP:0006690)

Myocardial steatosis (HP:0006693)

Single ventricle (HP:0001750)

Ventricular hypertrophy (HP:0001714)

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:0100571	HP:0100571	Cardiac diverticulum	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0100571	HP:0100571	Cardiac diverticulum	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0100571	HP:0100571	Cardiac diverticulum	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0100571	HP:0100571	Cardiac diverticulum	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0100571	HP:0100571	Cardiac diverticulum	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0100571	HP:0100571	Cardiac diverticulum	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0100571	HP:0100571	Cardiac diverticulum	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0100571	HP:0100571	Cardiac diverticulum	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0100571	HP:0100571	Cardiac diverticulum	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0100571	HP:0100571	Cardiac diverticulum	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0100571	HP:0100571	Cardiac diverticulum	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0100571	HP:0100571	Cardiac diverticulum	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0100571	HP:0100571	Cardiac diverticulum	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0100571	HP:0100571	Cardiac diverticulum	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0100571	HP:0100573	Muscular cardiac diverticulum	1	CL E G H
HP:0100571	HP:0100572	Fibrous cardiac diverticulum	1	CL E G H

Genes (14) :BMPR1A EPCAM FAN1 KRAS MLH1 MLH3 MSH2 MSH6 PIK3CA PMS1 PMS2 RPS20 SEMA4A TGFBR2

Diseases (2) :ORPHA:440437 ORPHA:144

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

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