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 left atrium morphology (HP:0025579)

..Starting node
..Left atrial enlargement (HP:0031295)

Term ID:

31295

Name:

Left atrial enlargement

Synonym:

Enlarged heart left atrium

Definition:

Increase in size of the left atrium.

Comments:

Reference:

HP:0031295

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic left atrium (HP:0005156)

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:0031295	HP:0031295	Left atrial enlargement	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0031295	HP:0031295	Left atrial enlargement	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0031295	HP:0031295	Left atrial enlargement	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26	HP:0040284 - Very rare	197
HP:0031295	HP:0031295	Left atrial enlargement	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	197
HP:0031295	HP:0031295	Left atrial enlargement	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0031295	HP:0031295	Left atrial enlargement	0	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle	.	52
HP:0031295	HP:0031295	Left atrial enlargement	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0031295	HP:0031295	Left atrial enlargement	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0031295	HP:0031295	Left atrial enlargement	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0031295	HP:0031295	Left atrial enlargement	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0031295	HP:0031295	Left atrial enlargement	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.	95
HP:0031295	HP:0031295	Left atrial enlargement	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	217
HP:0031295	HP:0031295	Left atrial enlargement	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0031295	HP:0031295	Left atrial enlargement	0	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6		13
HP:0031295	HP:0031295	Left atrial enlargement	0	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15		1
HP:0031295	HP:0031295	Left atrial enlargement	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0031295	HP:0031295	Left atrial enlargement	0	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13	.	126
HP:0031295	HP:0031295	Left atrial enlargement	0	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10	HP:0040284 - Very rare	1134
HP:0031295	HP:0031295	Left atrial enlargement	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0031295	HP:0031295	Left atrial enlargement	0	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1		180
HP:0031295	HP:0031295	Left atrial enlargement	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	180
HP:0031295	HP:0031295	Left atrial enlargement	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	248

Genes (20) :BANF1 FHOD3 FLNC FOCAD GYS1 KIF20A LMOD2 MYH7 MYL2 MYL3 MYPN NAA10 NPPA NUP155 PLD1 SCN1B SCN5A TLL1 TNNI3 TNNT2

Diseases (18) :OMIM:614008 OMIM:619402 OMIM:617047 ORPHA:75249 OMIM:619991 OMIM:611556 OMIM:619897 OMIM:160500 OMIM:619424 OMIM:608751 OMIM:300855 OMIM:612201 OMIM:615770 OMIM:212093 OMIM:615377 OMIM:614022 ORPHA:99106 OMIM:115210

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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