Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal heart morphology (HP:0001627)help
Parent Node:
expand
Abnormal cardiac ventricle morphology (HP:0001713)help
..Starting node
..expand
Ventricular hypertrophy (HP:0001714)help
Term ID: 1714
Name: Ventricular hypertrophy
Synonym:
Definition: Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
Comments:
Reference: HP:0001714
Genes and Diseases:
 
       Child Nodes:
........expandRight ventricular hypertrophy (HP:0001667) help
........expandLeft ventricular hypertrophy (HP:0001712) help
................... HP:0005129 Congenital hypertrophy of left ventricle
........expandBiventricular hypertrophy (HP:0200128) help

 Sister Nodes: 
..expandAbnormal left ventricle morphology (HP:0001711) help
..expandAbnormal right ventricle morphology (HP:0001707) help
..expandAbnormal ventricular septum morphology (HP:0010438) help
..expandCardiac diverticulum (HP:0100571) help
..expandDilatation of the ventricular cavity (HP:0006698) help
..expandMyocardial calcification (HP:0006690) help
..expandMyocardial steatosis (HP:0006693) help
..expandSingle ventricle (HP:0001750) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001714HP:0001714Ventricular hypertrophy0ABCA1 CL E G H1929OMIM:205400Tangier disease191
HP:0001714HP:0001714Ventricular hypertrophy0ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0001714HP:0001714Ventricular hypertrophy0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0001714HP:0001714Ventricular hypertrophy0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0001714HP:0001714Ventricular hypertrophy0ACTC1 CL E G H70143OMIM:613424Cardiomyopathy, dilated, 1R208
HP:0001714HP:0001714Ventricular hypertrophy0ACTC1 CL E G H70143OMIM:612098Cardiomyopathy, familial hypertrophic, 11208
HP:0001714HP:0001714Ventricular hypertrophy0ACTN2 CL E G H88164OMIM:612158Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction307
HP:0001714HP:0001714Ventricular hypertrophy0ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel disease2
HP:0001714HP:0001714Ventricular hypertrophy0AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0001714HP:0001714Ventricular hypertrophy0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0001714HP:0001714Ventricular hypertrophy0AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0001714HP:0001714Ventricular hypertrophy0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0001714HP:0001714Ventricular hypertrophy0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0001714HP:0001714Ventricular hypertrophy0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0001714HP:0001714Ventricular hypertrophy0ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001714HP:0001714Ventricular hypertrophy0ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive
HP:0001714HP:0001714Ventricular hypertrophy0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0001714HP:0001714Ventricular hypertrophy0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC2
HP:0001714HP:0001714Ventricular hypertrophy0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001714HP:0001714Ventricular hypertrophy0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0001714HP:0001714Ventricular hypertrophy0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0001714HP:0001714Ventricular hypertrophy0BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1525
HP:0001714HP:0001714Ventricular hypertrophy0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33
HP:0001714HP:0001714Ventricular hypertrophy0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0001714HP:0001714Ventricular hypertrophy0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040281 - Very frequent51
HP:0001714HP:0001714Ventricular hypertrophy0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0001714HP:0001714Ventricular hypertrophy0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001714HP:0001714Ventricular hypertrophy0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0001714HP:0001714Ventricular hypertrophy0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0001714HP:0001714Ventricular hypertrophy0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001714HP:0001714Ventricular hypertrophy0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0001714HP:0001714Ventricular hypertrophy0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0001714HP:0001714Ventricular hypertrophy0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0001714HP:0001714Ventricular hypertrophy0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 544
HP:0001714HP:0001714Ventricular hypertrophy0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001714HP:0001714Ventricular hypertrophy0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0001714HP:0001714Ventricular hypertrophy0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040283 - Occasional6
HP:0001714HP:0001714Ventricular hypertrophy0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040283 - Occasional101
HP:0001714HP:0001714Ventricular hypertrophy0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001714HP:0001714Ventricular hypertrophy0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0001714HP:0001714Ventricular hypertrophy0DTNA CL E G H18373057OMIM:604169Left ventricular noncompaction 1163
HP:0001714HP:0001714Ventricular hypertrophy0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0001714HP:0001714Ventricular hypertrophy0EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel disease257
HP:0001714HP:0001714Ventricular hypertrophy0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0001714HP:0001714Ventricular hypertrophy0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0001714HP:0001714Ventricular hypertrophy0ESPN CL E G H8371513281OMIM:618632USHER SYNDROME, TYPE 1M; USH1M33
HP:0001714HP:0001714Ventricular hypertrophy0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68
HP:0001714HP:0001714Ventricular hypertrophy0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5157
HP:0001714HP:0001714Ventricular hypertrophy0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0001714HP:0001714Ventricular hypertrophy0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0001714HP:0001714Ventricular hypertrophy0GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0001714HP:0001714Ventricular hypertrophy0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0001714HP:0001714Ventricular hypertrophy0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemia17
HP:0001714HP:0001714Ventricular hypertrophy0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0001714HP:0001714Ventricular hypertrophy0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0001714HP:0001714Ventricular hypertrophy0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0001714HP:0001714Ventricular hypertrophy0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome.5
HP:0001714HP:0001714Ventricular hypertrophy0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0001714HP:0001714Ventricular hypertrophy0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0001714HP:0001714Ventricular hypertrophy0GYS1 CL E G H29974706OMIM:611556Glycogen storage disease 0, muscle52
HP:0001714HP:0001714Ventricular hypertrophy0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0001714HP:0001714Ventricular hypertrophy0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0001714HP:0001714Ventricular hypertrophy0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0001714HP:0001714Ventricular hypertrophy0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excess14
HP:0001714HP:0001714Ventricular hypertrophy0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001714HP:0001714Ventricular hypertrophy0JPH2 CL E G H5715814202OMIM:613873Cardiomyopathy, familial hypertrophic, 17111
HP:0001714HP:0001714Ventricular hypertrophy0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type III128
HP:0001714HP:0001714Ventricular hypertrophy0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0001714HP:0001714Ventricular hypertrophy0LDB3 CL E G H1115515710OMIM:601493Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction286
HP:0001714HP:0001714Ventricular hypertrophy0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0001714HP:0001714Ventricular hypertrophy0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0001714HP:0001714Ventricular hypertrophy0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0001714HP:0001714Ventricular hypertrophy0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0001714HP:0001714Ventricular hypertrophy0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0001714HP:0001714Ventricular hypertrophy0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001714HP:0001714Ventricular hypertrophy0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 4.1143
HP:0001714HP:0001714Ventricular hypertrophy0MYH6 CL E G H46247576OMIM:613251Cardiomyopathy, familial hypertrophic, 14452
HP:0001714HP:0001714Ventricular hypertrophy0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0001714HP:0001714Ventricular hypertrophy0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0001714HP:0001714Ventricular hypertrophy0MYL2 CL E G H46337583OMIM:608758Cardiomyopathy, familial hypertrophic, 10131
HP:0001714HP:0001714Ventricular hypertrophy0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0001714HP:0001714Ventricular hypertrophy0MYL3 CL E G H46347584OMIM:608751Cardiomyopathy, familial hypertrophic, 895
HP:0001714HP:0001714Ventricular hypertrophy0MYOZ2 CL E G H517781330OMIM:613838Cardiomyopathy, familial hypertrophic, 1681
HP:0001714HP:0001714Ventricular hypertrophy0MYPN CL E G H8466523246OMIM:615248Cardiomyopathy, dilated, 1kk217
HP:0001714HP:0001714Ventricular hypertrophy0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0001714HP:0001714Ventricular hypertrophy0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001714HP:0001714Ventricular hypertrophy0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0001714HP:0001714Ventricular hypertrophy0NEXN CL E G H9162429557OMIM:613876Cardiomyopathy, familial hypertrophic, 20167
HP:0001714HP:0001714Ventricular hypertrophy0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001714HP:0001714Ventricular hypertrophy0NKX2-5 CL E G H14822488OMIM:108900Atrial septal defect with atrioventricular conduction defects90
HP:0001714HP:0001714Ventricular hypertrophy0NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosus3
HP:0001714HP:0001714Ventricular hypertrophy0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0001714HP:0001714Ventricular hypertrophy0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0001714HP:0001714Ventricular hypertrophy0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001714HP:0001714Ventricular hypertrophy0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0001714HP:0001714Ventricular hypertrophy0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0001714HP:0001714Ventricular hypertrophy0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 10.2
HP:0001714HP:0001714Ventricular hypertrophy0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0001714HP:0001714Ventricular hypertrophy0PLN CL E G H53509080OMIM:613874Cardiomyopathy, familial hypertrophic, 1857
HP:0001714HP:0001714Ventricular hypertrophy0PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosus
HP:0001714HP:0001714Ventricular hypertrophy0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0001714HP:0001714Ventricular hypertrophy0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0001714HP:0001714Ventricular hypertrophy0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0001714HP:0001714Ventricular hypertrophy0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0001714HP:0001714Ventricular hypertrophy0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital235
HP:0001714HP:0001714Ventricular hypertrophy0PSEN1 CL E G H56639508OMIM:613694Cardiomyopathy, dilated, 1U241
HP:0001714HP:0001714Ventricular hypertrophy0PSEN2 CL E G H56649509OMIM:613697Cardiomyopathy, dilated, 1V59
HP:0001714HP:0001714Ventricular hypertrophy0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0001714HP:0001714Ventricular hypertrophy0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001714HP:0001714Ventricular hypertrophy0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 6.40
HP:0001714HP:0001714Ventricular hypertrophy0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0001714HP:0001714Ventricular hypertrophy0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0001714HP:0001714Ventricular hypertrophy0SCN5A CL E G H633110593OMIM:614022Atrial fibrillation, familial, 101134
HP:0001714HP:0001714Ventricular hypertrophy0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0001714HP:0001714Ventricular hypertrophy0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0001714HP:0001714Ventricular hypertrophy0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0001714HP:0001714Ventricular hypertrophy0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0001714HP:0001714Ventricular hypertrophy0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0001714HP:0001714Ventricular hypertrophy0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0001714HP:0001714Ventricular hypertrophy0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathy144
HP:0001714HP:0001714Ventricular hypertrophy0SFTPB CL E G H643910801ORPHA:217563Neonatal acute respiratory distress due to SP-B deficiency51
HP:0001714HP:0001714Ventricular hypertrophy0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0001714HP:0001714Ventricular hypertrophy0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0001714HP:0001714Ventricular hypertrophy0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0001714HP:0001714Ventricular hypertrophy0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0001714HP:0001714Ventricular hypertrophy0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0001714HP:0001714Ventricular hypertrophy0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0001714HP:0001714Ventricular hypertrophy0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0001714HP:0001714Ventricular hypertrophy0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0001714HP:0001714Ventricular hypertrophy0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0001714HP:0001714Ventricular hypertrophy0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0001714HP:0001714Ventricular hypertrophy0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001714HP:0001714Ventricular hypertrophy0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0001714HP:0001714Ventricular hypertrophy0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome24
HP:0001714HP:0001714Ventricular hypertrophy0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0001714HP:0001714Ventricular hypertrophy0TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiency34
HP:0001714HP:0001714Ventricular hypertrophy0TCAP CL E G H855711610OMIM:607487Cardiomyopathy, familial hypertrophic, 2578
HP:0001714HP:0001714Ventricular hypertrophy0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum type6
HP:0001714HP:0001714Ventricular hypertrophy0TNNC1 CL E G H713411943OMIM:613243Cardiomyopathy, familial hypertrophic, 1373
HP:0001714HP:0001714Ventricular hypertrophy0TNNI3 CL E G H713711947OMIM:613690Cardiomyopathy, familial hypertrophic, 7.180
HP:0001714HP:0001714Ventricular hypertrophy0TNNI3 CL E G H713711947OMIM:115210CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1180
HP:0001714HP:0001714Ventricular hypertrophy0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0001714HP:0001714Ventricular hypertrophy0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0001714HP:0001714Ventricular hypertrophy0TRMT10C CL E G H5493126022OMIM:616974Combined oxidative phosphorylation deficiency 303
HP:0001714HP:0001714Ventricular hypertrophy0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001714HP:0001714Ventricular hypertrophy0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0001714HP:0001714Ventricular hypertrophy0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathy7128
HP:0001714HP:0001714Ventricular hypertrophy0TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0001714HP:0001714Ventricular hypertrophy0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0001714HP:0001714Ventricular hypertrophy0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 227
HP:0001714HP:0001714Ventricular hypertrophy0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 163
HP:0001714HP:0001714Ventricular hypertrophy0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0001714HP:0001714Ventricular hypertrophy0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0001714HP:0001714Ventricular hypertrophy0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0001714HP:0001714Ventricular hypertrophy0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0001714HP:0001714Ventricular hypertrophy0ZNF687 CL E G H5759229277OMIM:616833Paget disease of bone 62
HP:0001714HP:0001712Left ventricular hypertrophy1ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0001714HP:0001712Left ventricular hypertrophy1ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040283 - Occasional191
HP:0001714HP:0001712Left ventricular hypertrophy1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0001714HP:0001712Left ventricular hypertrophy1ACTC1 CL E G H70143OMIM:613424Cardiomyopathy, dilated, 1RHP:0040283 - Occasional208
HP:0001714HP:0001712Left ventricular hypertrophy1ACTC1 CL E G H70143OMIM:612098Cardiomyopathy, familial hypertrophic, 11208
HP:0001714HP:0001712Left ventricular hypertrophy1ACTN2 CL E G H88164OMIM:612158Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionHP:0040283 - Occasional307
HP:0001714HP:0001712Left ventricular hypertrophy1ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040283 - Occasional2
HP:0001714HP:0001712Left ventricular hypertrophy1AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0001714HP:0001712Left ventricular hypertrophy1AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0001714HP:0200128Biventricular hypertrophy1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040284 - Very rare68
HP:0001714HP:0001667Right ventricular hypertrophy1ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0001714HP:0001712Left ventricular hypertrophy1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0001714HP:0001712Left ventricular hypertrophy1ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001714HP:0001667Right ventricular hypertrophy1ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive.
HP:0001714HP:0001712Left ventricular hypertrophy1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0001714HP:0200128Biventricular hypertrophy1ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0001714HP:0001712Left ventricular hypertrophy1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0001714HP:0001712Left ventricular hypertrophy1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0001714HP:0001712Left ventricular hypertrophy1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0001714HP:0001667Right ventricular hypertrophy1BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1525
HP:0001714HP:0001712Left ventricular hypertrophy1C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0001714HP:0001712Left ventricular hypertrophy1CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities.51
HP:0001714HP:0200128Biventricular hypertrophy1CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalitiesHP:0040283 - Occasional51
HP:0001714HP:0001712Left ventricular hypertrophy1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0001714HP:0001712Left ventricular hypertrophy1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0001714HP:0001712Left ventricular hypertrophy1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0001714HP:0001712Left ventricular hypertrophy1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001714HP:0001712Left ventricular hypertrophy1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0001714HP:0001667Right ventricular hypertrophy1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0001714HP:0001712Left ventricular hypertrophy1COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 8.1
HP:0001714HP:0001712Left ventricular hypertrophy1COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0001714HP:0001712Left ventricular hypertrophy1COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001714HP:0001712Left ventricular hypertrophy1COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0200128Biventricular hypertrophy1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001714HP:0001712Left ventricular hypertrophy1DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0001714HP:0001712Left ventricular hypertrophy1DTNA CL E G H18373057OMIM:604169Left ventricular noncompaction 1163
HP:0001714HP:0001667Right ventricular hypertrophy1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0001714HP:0001712Left ventricular hypertrophy1EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040283 - Occasional257
HP:0001714HP:0001712Left ventricular hypertrophy1EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001714HP:0001712Left ventricular hypertrophy1ESPN CL E G H8371513281OMIM:618632USHER SYNDROME, TYPE 1M; USH1M33
HP:0001714HP:0001712Left ventricular hypertrophy1FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0001714HP:0001667Right ventricular hypertrophy1FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0001714HP:0001712Left ventricular hypertrophy1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0001714HP:0001712Left ventricular hypertrophy1GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040283 - Occasional291
HP:0001714HP:0001712Left ventricular hypertrophy1GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0001714HP:0001712Left ventricular hypertrophy1GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040284 - Very rare17
HP:0001714HP:0001712Left ventricular hypertrophy1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0001714HP:0001667Right ventricular hypertrophy1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0001714HP:0001667Right ventricular hypertrophy1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0001714HP:0001712Left ventricular hypertrophy1GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0001714HP:0001667Right ventricular hypertrophy1GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0001714HP:0001712Left ventricular hypertrophy1GYS1 CL E G H29974706OMIM:611556Glycogen storage disease 0, muscle.52
HP:0001714HP:0001712Left ventricular hypertrophy1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0001714HP:0001712Left ventricular hypertrophy1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0001714HP:0001712Left ventricular hypertrophy1HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2HP:0040283 - Occasional185
HP:0001714HP:0001712Left ventricular hypertrophy1HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040283 - Occasional14
HP:0001714HP:0001667Right ventricular hypertrophy1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001714HP:0001712Left ventricular hypertrophy1JPH2 CL E G H5715814202OMIM:613873Cardiomyopathy, familial hypertrophic, 17.111
HP:0001714HP:0001712Left ventricular hypertrophy1KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040283 - Occasional128
HP:0001714HP:0001667Right ventricular hypertrophy1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0001714HP:0001712Left ventricular hypertrophy1LDB3 CL E G H1115515710OMIM:601493Cardiomyopathy, dilated, 1C, with or without left ventricular noncompactionHP:0040283 - Occasional286
HP:0001714HP:0001712Left ventricular hypertrophy1LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0001714HP:0001712Left ventricular hypertrophy1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0001714HP:0001712Left ventricular hypertrophy1MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0001714HP:0001712Left ventricular hypertrophy1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001714HP:0001712Left ventricular hypertrophy1MYH6 CL E G H46247576OMIM:613251Cardiomyopathy, familial hypertrophic, 14452
HP:0001714HP:0001667Right ventricular hypertrophy1MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional1269
HP:0001714HP:0200128Biventricular hypertrophy1MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0001714HP:0001712Left ventricular hypertrophy1MYL2 CL E G H46337583OMIM:608758Cardiomyopathy, familial hypertrophic, 10.131
HP:0001714HP:0200128Biventricular hypertrophy1MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0001714HP:0001712Left ventricular hypertrophy1MYL3 CL E G H46347584OMIM:608751Cardiomyopathy, familial hypertrophic, 8.95
HP:0001714HP:0001712Left ventricular hypertrophy1MYOZ2 CL E G H517781330OMIM:613838Cardiomyopathy, familial hypertrophic, 16.81
HP:0001714HP:0001712Left ventricular hypertrophy1MYPN CL E G H8466523246OMIM:615248Cardiomyopathy, dilated, 1kkHP:0040283 - Occasional217
HP:0001714HP:0200128Biventricular hypertrophy1MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0001714HP:0001712Left ventricular hypertrophy1NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001714HP:0001712Left ventricular hypertrophy1ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0200128Biventricular hypertrophy1NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0001714HP:0001712Left ventricular hypertrophy1NEXN CL E G H9162429557OMIM:613876Cardiomyopathy, familial hypertrophic, 20.167
HP:0001714HP:0001712Left ventricular hypertrophy1NKX2-5 CL E G H14822488OMIM:108900Atrial septal defect with atrioventricular conduction defectsHP:0040283 - Occasional90
HP:0001714HP:0001667Right ventricular hypertrophy1NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosusHP:0040282 - Frequent3
HP:0001714HP:0001712Left ventricular hypertrophy1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0001714HP:0001667Right ventricular hypertrophy1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0001714HP:0001667Right ventricular hypertrophy1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001714HP:0001667Right ventricular hypertrophy1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5.452
HP:0001714HP:0001667Right ventricular hypertrophy1NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0001714HP:0001667Right ventricular hypertrophy1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0001714HP:0001712Left ventricular hypertrophy1PLN CL E G H53509080OMIM:613874Cardiomyopathy, familial hypertrophic, 18.57
HP:0001714HP:0001667Right ventricular hypertrophy1PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosusHP:0040282 - Frequent
HP:0001714HP:0001712Left ventricular hypertrophy1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001714HP:0001712Left ventricular hypertrophy1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0001714HP:0001712Left ventricular hypertrophy1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0001714HP:0001712Left ventricular hypertrophy1POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2HP:0040283 - Occasional221
HP:0001714HP:0200128Biventricular hypertrophy1PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0001714HP:0001712Left ventricular hypertrophy1PSEN1 CL E G H56639508OMIM:613694Cardiomyopathy, dilated, 1U241
HP:0001714HP:0001712Left ventricular hypertrophy1PSEN2 CL E G H56649509OMIM:613697Cardiomyopathy, dilated, 1V59
HP:0001714HP:0001712Left ventricular hypertrophy1RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0001714HP:0001712Left ventricular hypertrophy1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001714HP:0001712Left ventricular hypertrophy1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0001714HP:0001712Left ventricular hypertrophy1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0001714HP:0001712Left ventricular hypertrophy1SCN5A CL E G H633110593OMIM:614022Atrial fibrillation, familial, 10HP:0040283 - Occasional1134
HP:0001714HP:0001712Left ventricular hypertrophy1SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0001714HP:0001712Left ventricular hypertrophy1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0001714HP:0001712Left ventricular hypertrophy1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0001714HP:0001712Left ventricular hypertrophy1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0001714HP:0001712Left ventricular hypertrophy1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0001714HP:0001712Left ventricular hypertrophy1SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0001714HP:0001667Right ventricular hypertrophy1SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional144
HP:0001714HP:0001667Right ventricular hypertrophy1SFTPB CL E G H643910801ORPHA:217563Neonatal acute respiratory distress due to SP-B deficiencyHP:0040283 - Occasional51
HP:0001714HP:0001667Right ventricular hypertrophy1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0001714HP:0001667Right ventricular hypertrophy1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0001714HP:0001712Left ventricular hypertrophy1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0001714HP:0001712Left ventricular hypertrophy1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0001714HP:0001712Left ventricular hypertrophy1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0001714HP:0001712Left ventricular hypertrophy1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040283 - Occasional260
HP:0001714HP:0001712Left ventricular hypertrophy1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001714HP:0001712Left ventricular hypertrophy1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0001714HP:0001667Right ventricular hypertrophy1STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0001714HP:0001712Left ventricular hypertrophy1SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0001714HP:0200128Biventricular hypertrophy1TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiencyHP:0040283 - Occasional34
HP:0001714HP:0001712Left ventricular hypertrophy1TCAP CL E G H855711610OMIM:607487Cardiomyopathy, familial hypertrophic, 25HP:0040283 - Occasional78
HP:0001714HP:0001712Left ventricular hypertrophy1TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040282 - Frequent6
HP:0001714HP:0200128Biventricular hypertrophy1TNNC1 CL E G H713411943OMIM:613243Cardiomyopathy, familial hypertrophic, 13.73
HP:0001714HP:0001712Left ventricular hypertrophy1TNNI3 CL E G H713711947OMIM:115210CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1180
HP:0001714HP:0001712Left ventricular hypertrophy1TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1DHP:0040283 - Occasional248
HP:0001714HP:0001712Left ventricular hypertrophy1TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)HP:0040283 - Occasional21
HP:0001714HP:0001712Left ventricular hypertrophy1TRMT10C CL E G H5493126022OMIM:616974Combined oxidative phosphorylation deficiency 30HP:0040283 - Occasional3
HP:0001714HP:0001712Left ventricular hypertrophy1TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001714HP:0001712Left ventricular hypertrophy1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0001714HP:0001667Right ventricular hypertrophy1TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional7128
HP:0001714HP:0001712Left ventricular hypertrophy1TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0001714HP:0001712Left ventricular hypertrophy1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0001714HP:0001667Right ventricular hypertrophy1VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 2.27
HP:0001714HP:0001667Right ventricular hypertrophy1VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1.63
HP:0001714HP:0001712Left ventricular hypertrophy1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0001714HP:0001712Left ventricular hypertrophy1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0001714HP:0001712Left ventricular hypertrophy1ZNF687 CL E G H5759229277OMIM:616833Paget disease of bone 6HP:0040283 - Occasional2
HP:0001714HP:0005129Congenital hypertrophy of left ventricle2ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254


Genes (156) :ABCA1 ABCC6 ABCC9 ACTC1 ACTN2 ADAM17 AGL AIP ALG12 ALPK3 ARL6 ARSK ATP13A3 ATP6AP2 ATP6V1E1 B3GAT3 BBS1 BIN1 BMPR2 C1QBP CACNA1D CCDC28B CHST3 CLN3 COG1 COL1A2 COLQ COQ7 COQ9 COX1 COX16 COX2 COX3 COX6B1 COX7B CPT2 CYTB DEF6 DMD DTNA DYSF EGFR ENPP1 EPG5 ESPN FHL1 FKRP FOXF1 GAA GLA GLRX5 GNPTAB GPC3 GPC4 GPR101 GTPBP3 GYG1 GYS1 HADHA HADHB HCN4 HSD11B2 IPO8 JPH2 KCNJ5 LAMB2 LDB3 LMNA LZTR1 MEN1 MOGS MTX2 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYOZ2 MYPN MYRF NAXD ND1 ND5 ND6 NDUFA11 NEXN NHLRC2 NKX2-5 NKX2-6 NOD2 NONO NOTCH1 NPHP3 NSMCE2 PIGN PLN PLXND1 POLG POLG2 POMT1 POMT2 PRKAG2 PSEN1 PSEN2 RIT1 RNU7-1 RPL5 RRM2B RYR1 SCN5A SCO1 SDHA SDHAF1 SDHB SDHD SELENON SFTPB SGCD SGCG SLC25A12 SLC25A20 SLC25A24 SLC25A4 SLC2A10 SMAD2 SMAD3 SPEG STAMBP SVIL TALDO1 TCAP TLL1 TNNC1 TNNI3 TNNT2 TPK1 TRMT10C TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TTN TTR TWNK VIPAS39 VPS33B WAC WDR35 ZMPSTE24 ZNF462 ZNF687

Diseases (133) :OMIM:205400 ORPHA:31150 ORPHA:51608 OMIM:239850 OMIM:613424 OMIM:612098 OMIM:612158 ORPHA:294023 OMIM:232400 OMIM:102200 ORPHA:99725 ORPHA:79324 OMIM:618052 OMIM:209900 OMIM:619698 OMIM:265400 ORPHA:93952 OMIM:617402 OMIM:245600 ORPHA:169186 OMIM:178600 OMIM:617713 OMIM:615474 ORPHA:369929 OMIM:143095 ORPHA:228346 OMIM:611209 ORPHA:230851 ORPHA:98915 OMIM:616733 OMIM:614654 OMIM:540000 OMIM:619355 OMIM:619051 OMIM:300887 ORPHA:228305 OMIM:619573 ORPHA:206546 OMIM:604169 ORPHA:268 OMIM:242840 OMIM:618632 OMIM:300280 OMIM:613153 OMIM:265380 ORPHA:308552 OMIM:301500 ORPHA:324 ORPHA:401866 ORPHA:576 OMIM:312870 OMIM:300942 ORPHA:444013 ORPHA:263297 OMIM:611556 ORPHA:746 OMIM:163800 ORPHA:320 OMIM:619472 OMIM:613873 ORPHA:251274 OMIM:601493 ORPHA:740 ORPHA:363618 OMIM:616564 ORPHA:79330 OMIM:619127 OMIM:115197 OMIM:613251 ORPHA:324604 OMIM:255160 OMIM:608758 OMIM:619424 OMIM:608751 OMIM:613838 OMIM:615248 OMIM:618280 OMIM:618321 OMIM:618236 OMIM:613876 OMIM:618278 OMIM:108900 ORPHA:3384 OMIM:617321 ORPHA:466791 OMIM:300967 OMIM:616028 OMIM:267010 OMIM:617253 ORPHA:280633 OMIM:613874 ORPHA:254892 ORPHA:86812 OMIM:613156 OMIM:261740 OMIM:613694 OMIM:613697 OMIM:615355 OMIM:619487 OMIM:612561 OMIM:614022 OMIM:619048 ORPHA:3208 OMIM:619167 ORPHA:217563 OMIM:601287 ORPHA:353 OMIM:612949 OMIM:212138 OMIM:612289 OMIM:615418 OMIM:208050 OMIM:619656 ORPHA:284984 OMIM:613795 OMIM:614261 OMIM:619040 ORPHA:101028 OMIM:607487 ORPHA:99106 OMIM:613243 OMIM:613690 OMIM:115210 OMIM:601494 OMIM:614458 OMIM:616974 ORPHA:85451 OMIM:613404 OMIM:208085 ORPHA:284169 OMIM:613610 OMIM:618619 OMIM:616833
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.