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 Onset HGMD variants 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.