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:
Abnormal right ventricle morphology (HP:0001707)

Parent Node:
Ventricular hypertrophy (HP:0001714)

..Starting node
..Right ventricular hypertrophy (HP:0001667)

Term ID:

1667

Name:

Right ventricular hypertrophy

Synonym:

Heart right ventricle hypertrophy

Definition:

In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.

Comments:

Reference:

HP:0001667

Genes and Diseases:

Child Nodes:

Sister Nodes:

Biventricular hypertrophy (HP:0200128)

Left ventricular hypertrophy (HP:0001712)

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:0001667	HP:0001667	Right ventricular hypertrophy	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	90
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	92
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	1269
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent	3
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	144
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040283 - Occasional	51
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	7128
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001667	HP:0001667	Right ventricular hypertrophy	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63

Genes (26) :ALPK3 ATP13A3 BMPR2 COLQ DYSF FOXF1 GPC3 GPC4 GTPBP3 IPO8 LAMB2 MYH7 NKX2-6 NONO NOTCH1 NPHP3 PIGN PLXND1 SELENON SFTPB SGCG SLC25A12 STAMBP TTN VIPAS39 VPS33B

Diseases (22) :OMIM:618052 OMIM:265400 OMIM:178600 ORPHA:98915 ORPHA:268 OMIM:265380 OMIM:312870 ORPHA:444013 OMIM:619472 ORPHA:324604 ORPHA:3384 ORPHA:466791 OMIM:300967 OMIM:616028 OMIM:267010 ORPHA:280633 ORPHA:217563 ORPHA:353 OMIM:612949 OMIM:614261 OMIM:613404 OMIM:208085

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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