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 ventricle morphology (HP:0001713)

Parent Node:
Ventricular hypertrophy (HP:0001714)

..Starting node
..Biventricular hypertrophy (HP:0200128)

Term ID:

200128

Name:

Biventricular hypertrophy

Synonym:

Definition:

Thickening of the heart walls in both ventricles.

Comments:

Reference:

HP:0200128

Genes and Diseases:

Child Nodes:

Sister Nodes:

Left ventricular hypertrophy (HP:0001712)

Right ventricular hypertrophy (HP:0001667)

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:0200128	HP:0200128	Biventricular hypertrophy	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare	68
HP:0200128	HP:0200128	Biventricular hypertrophy	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0200128	HP:0200128	Biventricular hypertrophy	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0200128	HP:0200128	Biventricular hypertrophy	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0200128	HP:0200128	Biventricular hypertrophy	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0200128	HP:0200128	Biventricular hypertrophy	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0200128	HP:0200128	Biventricular hypertrophy	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0200128	HP:0200128	Biventricular hypertrophy	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0200128	HP:0200128	Biventricular hypertrophy	0	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.	235
HP:0200128	HP:0200128	Biventricular hypertrophy	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040283 - Occasional	34
HP:0200128	HP:0200128	Biventricular hypertrophy	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	.	73

Genes (11) :ALG12 ATP6V1E1 CACNA1D DEF6 MYH7 MYL2 MYRF NDUFA11 PRKAG2 TALDO1 TNNC1

Diseases (11) :ORPHA:79324 OMIM:617402 OMIM:615474 OMIM:619573 OMIM:255160 OMIM:619424 OMIM:618280 OMIM:618236 OMIM:261740 ORPHA:101028 OMIM:613243

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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