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 cardiac atrium morphology (HP:0005120)

Parent Node:
Abnormal right atrium morphology (HP:0025580)

..Starting node
..Right atrial enlargement (HP:0030718)

Term ID:

30718

Name:

Right atrial enlargement

Synonym:

Dilated right atrium; Enlarged heart right atrium; Right atrial dilatation

Definition:

Increase in size of the right atrium.

Comments:

Reference:

HP:0030718

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic right atrium (HP:0031294)

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:0030718	HP:0030718	Right atrial enlargement	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0030718	HP:0030718	Right atrial enlargement	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	208
HP:0030718	HP:0030718	Right atrial enlargement	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0030718	HP:0030718	Right atrial enlargement	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	5
HP:0030718	HP:0030718	Right atrial enlargement	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0030718	HP:0030718	Right atrial enlargement	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0030718	HP:0030718	Right atrial enlargement	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	197
HP:0030718	HP:0030718	Right atrial enlargement	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	87
HP:0030718	HP:0030718	Right atrial enlargement	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	37
HP:0030718	HP:0030718	Right atrial enlargement	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0030718	HP:0030718	Right atrial enlargement	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0030718	HP:0030718	Right atrial enlargement	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0030718	HP:0030718	Right atrial enlargement	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	452
HP:0030718	HP:0030718	Right atrial enlargement	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0030718	HP:0030718	Right atrial enlargement	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	217
HP:0030718	HP:0030718	Right atrial enlargement	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	90
HP:0030718	HP:0030718	Right atrial enlargement	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0030718	HP:0030718	Right atrial enlargement	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030718	HP:0030718	Right atrial enlargement	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	20
HP:0030718	HP:0030718	Right atrial enlargement	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0030718	HP:0030718	Right atrial enlargement	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	6
HP:0030718	HP:0030718	Right atrial enlargement	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	180
HP:0030718	HP:0030718	Right atrial enlargement	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	248

Genes (21) :ABCC6 ACTC1 BANF1 CITED2 FLNA FLNC GATA4 GATA6 KIF20A MCM10 MYBPC3 MYH6 MYL2 MYPN NKX2-5 NOTCH1 RPL3L TBX20 TLL1 TNNI3 TNNT2

Diseases (12) :OMIM:614473 ORPHA:99103 OMIM:614008 ORPHA:555877 OMIM:617047 ORPHA:75249 OMIM:619313 OMIM:115197 OMIM:619424 OMIM:616028 OMIM:619371 ORPHA:99106

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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