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 myocardium morphology (HP:0001637)

Parent Node:
Cardiomyopathy (HP:0001638)

..Starting node
..Right ventricular cardiomyopathy (HP:0011663)

Term ID:

11663

Name:

Right ventricular cardiomyopathy

Synonym:

Cardiomyopathy, esp. right ventricular; Cardiomyopathy, right ventricular

Definition:

Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.

Comments:

Reference:

HP:0011663

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrial cardiomyopathy (HP:0200127)

Dilated cardiomyopathy (HP:0001644)

Histiocytoid cardiomyopathy (HP:0005152)

Hypertrophic cardiomyopathy (HP:0001639)

Noncompaction cardiomyopathy (HP:0012817)

Restrictive cardiomyopathy (HP:0001723)

Takotsubo cardiomyopathy (HP:0011665)

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:0011663	HP:0011663	Right ventricular cardiomyopathy	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.	268
HP:0011663	HP:0011663	Right ventricular cardiomyopathy	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10	.	358
HP:0011663	HP:0011663	Right ventricular cardiomyopathy	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8	.	747
HP:0011663	HP:0011663	Right ventricular cardiomyopathy	0	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12		222
HP:0011663	HP:0011663	Right ventricular cardiomyopathy	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0011663	HP:0011663	Right ventricular cardiomyopathy	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	.	406
HP:0011663	HP:0011663	Right ventricular cardiomyopathy	0	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0011663	HP:0011663	Right ventricular cardiomyopathy	0	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1	.	85
HP:0011663	HP:0011663	Right ventricular cardiomyopathy	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171

Genes (8) :DSC2 DSG2 DSP JUP PKP2 RYR2 TGFB3 TMEM43

Diseases (9) :OMIM:610476 OMIM:610193 OMIM:607450 OMIM:611528 OMIM:601214 OMIM:609040 OMIM:600996 OMIM:107970 OMIM:604400

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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