Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the cardiovascular system (HP:0001626)help
Parent Node:
expand
Abnormal cardiovascular system physiology (HP:0011025)help
..Starting node
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Congestive heart failure (HP:0001635)help
Term ID: 1635
Name: Congestive heart failure
Synonym: Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure
Definition: The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Comments:
Reference: HP:0001635
Genes and Diseases:
 
       Child Nodes:
........expandHigh-output congestive heart failure (HP:0001722) help
........expandRestrictive heart failure (HP:0005130) help
........expandReduced systolic function (HP:0006673) help
................... HP:0005185 Global systolic dysfunction
................... HP:0006670 Impaired myocardial contractility
........expandLow-output congestive heart failure (HP:0009805) help

 Sister Nodes: 
..expandAbnormal cardiac atrial physiology (HP:0025443) help
..expandAbnormal cardiac ventricular function (HP:0030872) help
..expandAbnormal echocardiogram (HP:0003116) help
..expandAbnormal heart sound (HP:0031657) help
..expandAbnormal heart valve physiology (HP:0031653) help
..expandAbnormal systemic blood pressure (HP:0030972) help
..expandAbnormal vascular physiology (HP:0030163) help
..expandAbnormality of blood circulation (HP:0011028) help
..expandAbnormality of cardiovascular system electrophysiology (HP:0030956) help
..expandAngina pectoris (HP:0001681) help
..expandMyocardial infarction (HP:0001658) help
..expandShock (HP:0031273) help
..expandSyncope (HP:0001279) 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:0001635HP:0001635Congestive heart failure0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0001635HP:0001635Congestive heart failure0ABCC6 CL E G H36857OMIM:614473Arterial calcification, generalized, of infancy, 2.415
HP:0001635HP:0001635Congestive heart failure0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0001635HP:0001635Congestive heart failure0ABCC9 CL E G H1006060OMIM:608569CARDIOMYOPATHY, DILATED, 1O; CMD1O254
HP:0001635HP:0001635Congestive heart failure0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0001635HP:0001635Congestive heart failure0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0001635HP:0001635Congestive heart failure0ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional208
HP:0001635HP:0001635Congestive heart failure0ACTC1 CL E G H70143OMIM:613424Cardiomyopathy, dilated, 1R.208
HP:0001635HP:0001635Congestive heart failure0ACTC1 CL E G H70143OMIM:612098Cardiomyopathy, familial hypertrophic, 11208
HP:0001635HP:0001635Congestive heart failure0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0001635HP:0001635Congestive heart failure0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0001635HP:0001635Congestive heart failure0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0001635HP:0001635Congestive heart failure0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymiaHP:0040283 - Occasional25
HP:0001635HP:0001635Congestive heart failure0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040283 - Occasional25
HP:0001635HP:0001635Congestive heart failure0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0001635HP:0001635Congestive heart failure0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040283 - Occasional1
HP:0001635HP:0001635Congestive heart failure0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0001635HP:0001635Congestive heart failure0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001635HP:0001635Congestive heart failure0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0001635HP:0001635Congestive heart failure0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0001635HP:0001635Congestive heart failure0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0001635HP:0001635Congestive heart failure0ATP5F1A CL E G H498823OMIM:616045Combined oxidative phosphorylation deficiency 22.
HP:0001635HP:0001635Congestive heart failure0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0001635HP:0001635Congestive heart failure0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0001635HP:0001635Congestive heart failure0BAG3 CL E G H9531939OMIM:613881Cardiomyopathy, dilated, 1hh.204
HP:0001635HP:0001635Congestive heart failure0BAG5 CL E G H9529941OMIM:619747CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0001635HP:0001635Congestive heart failure0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0BCHE CL E G H590983ORPHA:132Butyrylcholinesterase deficiencyHP:0040284 - Very rare67
HP:0001635HP:0001635Congestive heart failure0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0001635HP:0001635Congestive heart failure0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0001635HP:0001635Congestive heart failure0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0001635HP:0001635Congestive heart failure0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040283 - Occasional272
HP:0001635HP:0001635Congestive heart failure0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0001635HP:0001635Congestive heart failure0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional11
HP:0001635HP:0001635Congestive heart failure0CAV3 CL E G H8591529OMIM:192600Cardiomyopathy, familial hypertrophic 1.148
HP:0001635HP:0001635Congestive heart failure0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0001635HP:0001635Congestive heart failure0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0001635HP:0001635Congestive heart failure0CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure.1
HP:0001635HP:0001635Congestive heart failure0CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional5
HP:0001635HP:0001635Congestive heart failure0CITED2 CL E G H103701987ORPHA:99105Atrial septal defect, sinus venosus typeHP:0040284 - Very rare5
HP:0001635HP:0001635Congestive heart failure0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0001635HP:0001635Congestive heart failure0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040282 - Frequent4
HP:0001635HP:0001635Congestive heart failure0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001635HP:0001635Congestive heart failure0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001635HP:0001635Congestive heart failure0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA.373
HP:0001635HP:0001635Congestive heart failure0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA.243
HP:0001635HP:0001635Congestive heart failure0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001635HP:0001635Congestive heart failure0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0001635HP:0001635Congestive heart failure0CSRP3 CL E G H80482472OMIM:607482CARDIOMYOPATHY, DILATED, 1M; CMD1M104
HP:0001635HP:0001635Congestive heart failure0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0DES CL E G H16742770OMIM:604765CARDIOMYOPATHY, DILATED, 1I; CMD1I263
HP:0001635HP:0001635Congestive heart failure0DES CL E G H16742770ORPHA:98909DesminopathyHP:0040282 - Frequent263
HP:0001635HP:0001635Congestive heart failure0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0001635HP:0001635Congestive heart failure0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0001635HP:0001635Congestive heart failure0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0001635HP:0001635Congestive heart failure0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional44
HP:0001635HP:0001635Congestive heart failure0DOHH CL E G H8347528662OMIM:620066
HP:0001635HP:0001635Congestive heart failure0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001635HP:0001635Congestive heart failure0DSG2 CL E G H18293049OMIM:612877CARDIOMYOPATHY, DILATED, 1BB; CMD1BB358
HP:0001635HP:0001635Congestive heart failure0DSP CL E G H18323052OMIM:607450Arrhythmogenic right ventricular dysplasia, familial, 8.747
HP:0001635HP:0001635Congestive heart failure0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0001635HP:0001635Congestive heart failure0DSP CL E G H18323052ORPHA:65282Carvajal syndromeHP:0040283 - Occasional747
HP:0001635HP:0001635Congestive heart failure0DTNA CL E G H18373057OMIM:604169Left ventricular noncompaction 1.163
HP:0001635HP:0001635Congestive heart failure0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent45
HP:0001635HP:0001635Congestive heart failure0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0ELAC2 CL E G H6052814198OMIM:615440Combined oxidative phosphorylation deficiency 17.67
HP:0001635HP:0001635Congestive heart failure0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001635HP:0001635Congestive heart failure0ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1172
HP:0001635HP:0001635Congestive heart failure0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0001635HP:0001635Congestive heart failure0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0001635HP:0001635Congestive heart failure0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0001635HP:0001635Congestive heart failure0ENPP1 CL E G H51673356OMIM:208000Arterial calcification, generalized, of infancy, 1.151
HP:0001635HP:0001635Congestive heart failure0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional112
HP:0001635HP:0001635Congestive heart failure0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001635HP:0001635Congestive heart failure0EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare3
HP:0001635HP:0001635Congestive heart failure0EYA4 CL E G H20703522OMIM:605362Cardiomyopathy, dilated, 1J111
HP:0001635HP:0001635Congestive heart failure0EYA4 CL E G H20703522ORPHA:217622Sensorineural deafness with dilated cardiomyopathyHP:0040281 - Very frequent111
HP:0001635HP:0001635Congestive heart failure0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001635HP:0001635Congestive heart failure0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent63
HP:0001635HP:0001635Congestive heart failure0FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0001635HP:0001635Congestive heart failure0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0001635HP:0001635Congestive heart failure0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0001635HP:0001635Congestive heart failure0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricansHP:0040283 - Occasional145
HP:0001635HP:0001635Congestive heart failure0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0001635HP:0001635Congestive heart failure0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0FLNA CL E G H23163754OMIM:314400Cardiac valvular dysplasia, X-linked.493
HP:0001635HP:0001635Congestive heart failure0FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26.197
HP:0001635HP:0001635Congestive heart failure0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0001635HP:0001635Congestive heart failure0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0001635HP:0001635Congestive heart failure0GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional87
HP:0001635HP:0001635Congestive heart failure0GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional37
HP:0001635HP:0001635Congestive heart failure0GATAD1 CL E G H5779829941OMIM:614672Cardiomyopathy, dilated, 2B.35
HP:0001635HP:0001635Congestive heart failure0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0001635HP:0001635Congestive heart failure0GJA1 CL E G H26974274OMIM:600309Atrioventricular septal defect 3.68
HP:0001635HP:0001635Congestive heart failure0GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0001635HP:0001635Congestive heart failure0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040281 - Very frequent291
HP:0001635HP:0001635Congestive heart failure0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0001635HP:0001635Congestive heart failure0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040283 - Occasional16
HP:0001635HP:0001635Congestive heart failure0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001635HP:0001635Congestive heart failure0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0001635HP:0001635Congestive heart failure0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001635HP:0001635Congestive heart failure0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001635HP:0001635Congestive heart failure0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001635HP:0001635Congestive heart failure0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0001635HP:0001635Congestive heart failure0GTPBP3 CL E G H8470514880OMIM:616198Combined oxidative phosphorylation deficiency 23.30
HP:0001635HP:0001635Congestive heart failure0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0001635HP:0001635Congestive heart failure0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency.99
HP:0001635HP:0001635Congestive heart failure0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0001635HP:0001635Congestive heart failure0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency.60
HP:0001635HP:0001635Congestive heart failure0HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B.15
HP:0001635HP:0001635Congestive heart failure0HBA1 CL E G H30394823ORPHA:163596Hb Bart's hydrops fetalisHP:0040281 - Very frequent200
HP:0001635HP:0001635Congestive heart failure0HBA2 CL E G H30404824ORPHA:163596Hb Bart's hydrops fetalisHP:0040281 - Very frequent88
HP:0001635HP:0001635Congestive heart failure0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermedia580
HP:0001635HP:0001635Congestive heart failure0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0001635HP:0001635Congestive heart failure0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0001635HP:0001635Congestive heart failure0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0001635HP:0001635Congestive heart failure0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0001635HP:0001635Congestive heart failure0HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A.
HP:0001635HP:0001635Congestive heart failure0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional2
HP:0001635HP:0001635Congestive heart failure0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0001635HP:0001635Congestive heart failure0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0001635HP:0001635Congestive heart failure0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0001635HP:0001635Congestive heart failure0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0001635HP:0001635Congestive heart failure0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0001635HP:0001635Congestive heart failure0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001635HP:0001635Congestive heart failure0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional4
HP:0001635HP:0001635Congestive heart failure0JUP CL E G H37286207ORPHA:34217Naxos diseaseHP:0040282 - Frequent222
HP:0001635HP:0001635Congestive heart failure0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0001635HP:0001635Congestive heart failure0KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13.128
HP:0001635HP:0001635Congestive heart failure0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0001635HP:0001635Congestive heart failure0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0001635HP:0001635Congestive heart failure0LDB3 CL E G H1115515710OMIM:601493Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction.286
HP:0001635HP:0001635Congestive heart failure0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0001635HP:0001635Congestive heart failure0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040283 - Occasional645
HP:0001635HP:0001635Congestive heart failure0LMNA CL E G H40006636OMIM:115200Cardiomyopathy, dilated, 1A645
HP:0001635HP:0001635Congestive heart failure0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040283 - Occasional645
HP:0001635HP:0001635Congestive heart failure0LMNA CL E G H40006636ORPHA:300751Familial dilated cardiomyopathy with conduction defect due to LMNA mutationHP:0040283 - Occasional645
HP:0001635HP:0001635Congestive heart failure0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040283 - Occasional645
HP:0001635HP:0001635Congestive heart failure0LMNA CL E G H40006636OMIM:176670Hutchinson-Gilford progeria syndrome.645
HP:0001635HP:0001635Congestive heart failure0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0001635HP:0001635Congestive heart failure0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0001635HP:0001635Congestive heart failure0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent
HP:0001635HP:0001635Congestive heart failure0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0001635HP:0001635Congestive heart failure0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0001635HP:0001635Congestive heart failure0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0001635HP:0001635Congestive heart failure0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0001635HP:0001635Congestive heart failure0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0001635HP:0001635Congestive heart failure0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001635HP:0001635Congestive heart failure0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001635HP:0001635Congestive heart failure0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0001635HP:0001635Congestive heart failure0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0001635HP:0001635Congestive heart failure0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 41143
HP:0001635HP:0001635Congestive heart failure0MYBPC3 CL E G H46077551OMIM:615396Left ventricular noncompaction 101143
HP:0001635HP:0001635Congestive heart failure0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0001635HP:0001635Congestive heart failure0MYH6 CL E G H46247576ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional452
HP:0001635HP:0001635Congestive heart failure0MYH6 CL E G H46247576OMIM:613252Cardiomyopathy, dilated, 1ee452
HP:0001635HP:0001635Congestive heart failure0MYH6 CL E G H46247576OMIM:192600Cardiomyopathy, familial hypertrophic 1.452
HP:0001635HP:0001635Congestive heart failure0MYH6 CL E G H46247576OMIM:613251Cardiomyopathy, familial hypertrophic, 14452
HP:0001635HP:0001635Congestive heart failure0MYH7 CL E G H46257577OMIM:613426Cardiomyopathy, dilated, 1S.1269
HP:0001635HP:0001635Congestive heart failure0MYH7 CL E G H46257577OMIM:192600Cardiomyopathy, familial hypertrophic 1.1269
HP:0001635HP:0001635Congestive heart failure0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional1269
HP:0001635HP:0001635Congestive heart failure0MYH7 CL E G H46257577ORPHA:1880Ebstein malformation of the tricuspid valveHP:0040283 - Occasional1269
HP:0001635HP:0001635Congestive heart failure0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive.1269
HP:0001635HP:0001635Congestive heart failure0MYL3 CL E G H46347584OMIM:608751Cardiomyopathy, familial hypertrophic, 8HP:0040283 - Occasional95
HP:0001635HP:0001635Congestive heart failure0MYLK2 CL E G H8536616243OMIM:192600Cardiomyopathy, familial hypertrophic 1.124
HP:0001635HP:0001635Congestive heart failure0MYPN CL E G H8466523246OMIM:615248Cardiomyopathy, dilated, 1kkHP:0040283 - Occasional217
HP:0001635HP:0001635Congestive heart failure0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040282 - Frequent
HP:0001635HP:0001635Congestive heart failure0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0001635HP:0001635Congestive heart failure0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0001635HP:0001635Congestive heart failure0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0001635HP:0001635Congestive heart failure0NDUFB11 CL E G H5453920372OMIM:301021Mitochondrial complex I deficiency, nuclear type 30.3
HP:0001635HP:0001635Congestive heart failure0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0001635HP:0001635Congestive heart failure0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0001635HP:0001635Congestive heart failure0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0001635HP:0001635Congestive heart failure0NKX2-5 CL E G H14822488ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional90
HP:0001635HP:0001635Congestive heart failure0NKX2-5 CL E G H14822488ORPHA:871Familial progressive cardiac conduction defectHP:0040282 - Frequent90
HP:0001635HP:0001635Congestive heart failure0NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040283 - Occasional13
HP:0001635HP:0001635Congestive heart failure0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 10.2
HP:0001635HP:0001635Congestive heart failure0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040283 - Occasional13
HP:0001635HP:0001635Congestive heart failure0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0001635HP:0001635Congestive heart failure0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0001635HP:0001635Congestive heart failure0PLN CL E G H53509080OMIM:609909Cardiomyopathy, dilated, 1P.57
HP:0001635HP:0001635Congestive heart failure0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0001635HP:0001635Congestive heart failure0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040284 - Very rare105
HP:0001635HP:0001635Congestive heart failure0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0001635HP:0001635Congestive heart failure0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathy65
HP:0001635HP:0001635Congestive heart failure0PPA2 CL E G H2706828883OMIM:617222Sudden cardiac failure, infantile.8
HP:0001635HP:0001635Congestive heart failure0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0001635HP:0001635Congestive heart failure0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0001635HP:0001635Congestive heart failure0PRDM16 CL E G H6397614000OMIM:615373Left ventricular noncompaction 8.148
HP:0001635HP:0001635Congestive heart failure0PRKAG2 CL E G H514229386OMIM:600858Cardiomyopathy, familial hypertrophic, 6235
HP:0001635HP:0001635Congestive heart failure0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0001635HP:0001635Congestive heart failure0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040283 - Occasional134
HP:0001635HP:0001635Congestive heart failure0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0001635HP:0001635Congestive heart failure0PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxomaHP:0040283 - Occasional134
HP:0001635HP:0001635Congestive heart failure0PSEN1 CL E G H56639508OMIM:613694Cardiomyopathy, dilated, 1U.241
HP:0001635HP:0001635Congestive heart failure0PSEN2 CL E G H56649509OMIM:613697Cardiomyopathy, dilated, 1V.59
HP:0001635HP:0001635Congestive heart failure0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms.20
HP:0001635HP:0001635Congestive heart failure0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040283 - Occasional948
HP:0001635HP:0001635Congestive heart failure0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0001635HP:0001635Congestive heart failure0RAF1 CL E G H58949829OMIM:615916Cardiomyopathy, dilated, 1nn212
HP:0001635HP:0001635Congestive heart failure0RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare88
HP:0001635HP:0001635Congestive heart failure0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndrome88
HP:0001635HP:0001635Congestive heart failure0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0001635HP:0001635Congestive heart failure0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0001635HP:0001635Congestive heart failure0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0001635HP:0001635Congestive heart failure0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional572
HP:0001635HP:0001635Congestive heart failure0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0001635HP:0001635Congestive heart failure0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0001635HP:0001635Congestive heart failure0SCN1B CL E G H632410586ORPHA:871Familial progressive cardiac conduction defectHP:0040282 - Frequent126
HP:0001635HP:0001635Congestive heart failure0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0001635HP:0001635Congestive heart failure0SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040283 - Occasional1134
HP:0001635HP:0001635Congestive heart failure0SCN5A CL E G H633110593ORPHA:871Familial progressive cardiac conduction defectHP:0040282 - Frequent1134
HP:0001635HP:0001635Congestive heart failure0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0001635HP:0001635Congestive heart failure0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0001635HP:0001635Congestive heart failure0SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0001635HP:0001635Congestive heart failure0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0001635HP:0001635Congestive heart failure0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0001635HP:0001635Congestive heart failure0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0001635HP:0001635Congestive heart failure0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0001635HP:0001635Congestive heart failure0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0001635HP:0001635Congestive heart failure0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional237
HP:0001635HP:0001635Congestive heart failure0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0001635HP:0001635Congestive heart failure0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0001635HP:0001635Congestive heart failure0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0001635HP:0001635Congestive heart failure0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional129
HP:0001635HP:0001635Congestive heart failure0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional144
HP:0001635HP:0001635Congestive heart failure0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040284 - Very rare19
HP:0001635HP:0001635Congestive heart failure0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0001635HP:0001635Congestive heart failure0SGCD CL E G H644410807OMIM:606685CARDIOMYOPATHY, DILATED, 1L; CMD1L223
HP:0001635HP:0001635Congestive heart failure0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0001635HP:0001635Congestive heart failure0SLC19A2 CL E G H1056010938ORPHA:49827Thiamine-responsive megaloblastic anemia syndromeHP:0040283 - Occasional55
HP:0001635HP:0001635Congestive heart failure0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0001635HP:0001635Congestive heart failure0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 28.5
HP:0001635HP:0001635Congestive heart failure0SLC25A3 CL E G H525010989ORPHA:91130Cardiomyopathy-hypotonia-lactic acidosis syndrome35
HP:0001635HP:0001635Congestive heart failure0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040281 - Very frequent178
HP:0001635HP:0001635Congestive heart failure0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0001635HP:0001635Congestive heart failure0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0001635HP:0001635Congestive heart failure0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040283 - Occasional94
HP:0001635HP:0001635Congestive heart failure0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001635HP:0001635Congestive heart failure0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional89
HP:0001635HP:0001635Congestive heart failure0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0001635HP:0001635Congestive heart failure0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0001635HP:0001635Congestive heart failure0TAB2 CL E G H2311817075OMIM:614980Congenital heart defects, multiple types, 211
HP:0001635HP:0001635Congestive heart failure0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0001635HP:0001635Congestive heart failure0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0TBX20 CL E G H5705711598ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional20
HP:0001635HP:0001635Congestive heart failure0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0001635HP:0001635Congestive heart failure0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040284 - Very rare3
HP:0001635HP:0001635Congestive heart failure0TF CL E G H701811740OMIM:209300ATRANSFERRINEMIA.45
HP:0001635HP:0001635Congestive heart failure0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040283 - Occasional6
HP:0001635HP:0001635Congestive heart failure0TLL1 CL E G H709211843ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040283 - Occasional6
HP:0001635HP:0001635Congestive heart failure0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional131
HP:0001635HP:0001635Congestive heart failure0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0001635HP:0001635Congestive heart failure0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0TMEM43 CL E G H7918828472OMIM:604400Arrhythmogenic right ventricular dysplasia, familial, 5.171
HP:0001635HP:0001635Congestive heart failure0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040282 - Frequent63
HP:0001635HP:0001635Congestive heart failure0TNNC1 CL E G H713411943OMIM:611879CARDIOMYOPATHY, DILATED, 1Z; CMD1Z73
HP:0001635HP:0001635Congestive heart failure0TNNI3 CL E G H713711947OMIM:613286Cardiomyopathy, dilated, 1ff180
HP:0001635HP:0001635Congestive heart failure0TNNI3 CL E G H713711947OMIM:611880Cardiomyopathy, dilated, 2A.180
HP:0001635HP:0001635Congestive heart failure0TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathyHP:0040283 - Occasional1
HP:0001635HP:0001635Congestive heart failure0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D.248
HP:0001635HP:0001635Congestive heart failure0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0001635HP:0001635Congestive heart failure0TPM1 CL E G H716812010OMIM:611878Cardiomyopathy, dilated, 1Y.230
HP:0001635HP:0001635Congestive heart failure0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism.78
HP:0001635HP:0001635Congestive heart failure0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0001635HP:0001635Congestive heart failure0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0001635HP:0001635Congestive heart failure0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0001635HP:0001635Congestive heart failure0TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing lossHP:0040282 - Frequent
HP:0001635HP:0001635Congestive heart failure0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0001635HP:0001635Congestive heart failure0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001635HP:0001635Congestive heart failure0TRPM4 CL E G H5479517993ORPHA:871Familial progressive cardiac conduction defectHP:0040282 - Frequent124
HP:0001635HP:0001635Congestive heart failure0TTN CL E G H727312403OMIM:604145CARDIOMYOPATHY, DILATED, 1G; CMD1G7128
HP:0001635HP:0001635Congestive heart failure0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional7128
HP:0001635HP:0001635Congestive heart failure0TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0001635HP:0001635Congestive heart failure0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0001635HP:0001635Congestive heart failure0VCL CL E G H741412665OMIM:613255Cardiomyopathy, familial hypertrophic, 15.248
HP:0001635HP:0001635Congestive heart failure0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0001635HP:0001635Congestive heart failure0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional490
HP:0001635HP:0001635Congestive heart failure0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0001635HP:0001635Congestive heart failure0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional490
HP:0001635HP:0001635Congestive heart failure0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1
HP:0001635HP:0001635Congestive heart failure0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0001635HP:0001635Congestive heart failure0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001635HP:0001635Congestive heart failure0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0001635HP:0001635Congestive heart failure0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0001635HP:0001635Congestive heart failure0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0001635HP:0001722High-output congestive heart failure1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:0001635HP:0001722High-output congestive heart failure1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0001635HP:0001722High-output congestive heart failure1EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040283 - Occasional3
HP:0001635HP:0009805Low-output congestive heart failure1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0001635HP:0001722High-output congestive heart failure1HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040283 - Occasional580
HP:0001635HP:0001722High-output congestive heart failure1HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0001635HP:0001722High-output congestive heart failure1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040284 - Very rare580
HP:0001635HP:0009805Low-output congestive heart failure1PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040282 - Frequent65
HP:0001635HP:0001722High-output congestive heart failure1RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040283 - Occasional88
HP:0001635HP:0001722High-output congestive heart failure1RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040282 - Frequent88
HP:0001635HP:0001722High-output congestive heart failure1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:0001635HP:0009805Low-output congestive heart failure1SLC25A3 CL E G H525010989ORPHA:91130Cardiomyopathy-hypotonia-lactic acidosis syndromeHP:0040282 - Frequent35


Genes (245) :AARS2 ABCC6 ABCC9 ACAD9 ACTC1 ACTN2 ACVRL1 ADAMTSL2 ADCY5 AFF4 AGGF1 AGPAT2 ALDH18A1 ALMS1 ALPK3 ATP5F1A ATP6V1A ATXN7 BAG3 BAG5 BAZ1B BCHE BCL7B BMP2 BMP6 BSCL2 BUD23 CACNA1S CASR CAV1 CAV3 CAVIN1 CCN2 CCR6 CDH23 CEP19 CITED2 CLIC2 CLIP2 CLPB COG7 COL1A1 COL1A2 COX1 COX16 COX2 COX3 CP CSRP3 CYTB DES DLST DMD DNAJC19 DNAJC30 DNMT3A DOHH DOLK DSG2 DSP DTNA EFEMP2 EIF4H ELAC2 ELN ENG ENPP1 EPAS1 EPG5 EPHB4 EYA4 FBLN5 FBN1 FGD1 FGFR3 FH FKBP6 FLNA FLNC FOS FXN GAA GATA4 GATA6 GATAD1 GDF2 GJA1 GLA GLB1 GNA11 GNPTAB GPR35 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 HADHA HADHB HAMP HBA1 HBA2 HBB HFE HJV HLA-DRB1 HNRNPA1 HNRNPA2B1 IDS IFIH1 IKBKG IL6ST IRF5 JUP KCNJ5 KIF1B LDB3 LIMK1 LMNA LRPPRC LTBP1 MAPRE2 MAX MDH2 MECP2 METTL27 MLXIPL MST1 MTTP MYBPC3 MYD88 MYH6 MYH7 MYL3 MYLK2 MYPN MYSM1 NCF1 ND1 ND5 ND6 NDUFAF1 NDUFAF3 NDUFB11 NDUFB8 NDUFS2 NF1 NKX2-5 NPPA NSMCE2 PDE11A PEX7 PHYH PLN PLOD1 PNPLA2 PPA2 PPARG PRDM16 PRKAG2 PRKAR1A PSEN1 PSEN2 PSMB8 PTEN RAB3GAP2 RAF1 RASA1 RBCK1 RET RFC2 RPS19 RYR1 SCN1B SCN4A SCN5A SCO1 SCO2 SDHA SDHAF2 SDHB SDHC SDHD SELENON SEMA4D SF3B1 SGCA SGCD SLC17A5 SLC19A2 SLC22A5 SLC25A11 SLC25A26 SLC25A3 SLC2A10 SMAD4 SMARCAL1 SNAP29 SPTBN1 STAT1 STRADA STX1A SURF1 TAB2 TAFAZZIN TBL2 TBX20 TCF4 TET2 TF TLL1 TMEM127 TMEM270 TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TOM1 TPI1 TPM1 TRIM37 TRIP4 TRNC TRNE TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TRPM4 TTN TTR TUBB VCL VCP VHL VPS33A VPS37D WRN XYLT1 XYLT2

Diseases (199) :OMIM:614096 OMIM:614473 OMIM:264800 OMIM:608569 ORPHA:99901 OMIM:611126 ORPHA:99103 OMIM:613424 OMIM:612098 OMIM:618654 ORPHA:774 OMIM:231050 OMIM:606703 ORPHA:324588 ORPHA:444077 ORPHA:90308 ORPHA:528 ORPHA:90348 ORPHA:64 OMIM:203800 OMIM:618052 OMIM:616045 OMIM:617403 ORPHA:94147 OMIM:613881 OMIM:619747 ORPHA:904 ORPHA:132 OMIM:235200 ORPHA:465508 ORPHA:423 ORPHA:428 ORPHA:220393 OMIM:192600 ORPHA:91347 OMIM:615703 ORPHA:99105 OMIM:300886 ORPHA:324410 OMIM:616271 OMIM:608779 OMIM:166210 OMIM:540000 OMIM:619355 ORPHA:48818 OMIM:607482 ORPHA:137675 OMIM:604765 ORPHA:98909 ORPHA:29072 OMIM:310200 ORPHA:206546 OMIM:610198 ORPHA:276621 OMIM:620066 ORPHA:91131 OMIM:612877 OMIM:607450 OMIM:605676 ORPHA:65282 OMIM:604169 ORPHA:90349 OMIM:615440 OMIM:123700 OMIM:187300 OMIM:208000 OMIM:242840 ORPHA:137667 OMIM:605362 ORPHA:217622 OMIM:154700 OMIM:608328 ORPHA:915 OMIM:616482 OMIM:314400 OMIM:617047 OMIM:229300 ORPHA:308552 OMIM:614672 OMIM:600309 OMIM:301500 ORPHA:324 OMIM:230500 OMIM:252500 ORPHA:171 ORPHA:444013 OMIM:616198 ORPHA:746 OMIM:609015 OMIM:613313 ORPHA:163596 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:602390 ORPHA:52430 OMIM:309900 OMIM:182250 ORPHA:464 OMIM:619751 ORPHA:34217 OMIM:601214 OMIM:613485 OMIM:171300 OMIM:601493 ORPHA:79474 ORPHA:280365 OMIM:115200 ORPHA:157973 ORPHA:300751 ORPHA:2348 OMIM:176670 ORPHA:363618 ORPHA:70472 ORPHA:2505 ORPHA:3077 ORPHA:14 OMIM:115197 OMIM:615396 ORPHA:33226 OMIM:613252 OMIM:613251 OMIM:613426 ORPHA:324604 ORPHA:1880 OMIM:255160 OMIM:608751 OMIM:615248 ORPHA:508542 OMIM:618234 ORPHA:70474 OMIM:301021 ORPHA:871 ORPHA:1344 OMIM:617253 ORPHA:1359 OMIM:266500 OMIM:609909 OMIM:225400 ORPHA:1900 ORPHA:98908 ORPHA:565612 OMIM:617222 ORPHA:79083 OMIM:615373 OMIM:600858 OMIM:261740 OMIM:160980 ORPHA:615 OMIM:613694 OMIM:613697 OMIM:256040 ORPHA:137608 OMIM:212720 OMIM:615916 ORPHA:90307 OMIM:615895 OMIM:105650 ORPHA:682 OMIM:619048 OMIM:613642 OMIM:619259 ORPHA:75564 OMIM:608099 OMIM:606685 OMIM:269920 ORPHA:49827 OMIM:212140 OMIM:616794 ORPHA:91130 ORPHA:3342 ORPHA:1830 ORPHA:66631 OMIM:619475 ORPHA:391487 ORPHA:500533 OMIM:614980 OMIM:302060 OMIM:209300 ORPHA:99106 OMIM:604400 ORPHA:1194 OMIM:611879 OMIM:613286 OMIM:611880 OMIM:616117 OMIM:601494 OMIM:615512 OMIM:611878 OMIM:253250 OMIM:616866 ORPHA:225 ORPHA:1349 OMIM:604145 ORPHA:85451 OMIM:613255 ORPHA:505248 OMIM:617303 ORPHA:902
 

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