Human Phenotype Ontology 
Grandparent Node:
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Abnormality of cardiovascular system morphology (HP:0030680)help
Parent Node:
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Abnormal heart morphology (HP:0001627)help
..Starting node
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Cardiomegaly (HP:0001640)help
Term ID: 1640
Name: Cardiomegaly
Synonym: Enlarged heart; Increased heart size
Definition: Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Comments:
Reference: HP:0001640
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal anatomic location of the heart (HP:0004307) help
..expandAbnormal cardiac atrium morphology (HP:0005120) help
..expandAbnormal cardiac septum morphology (HP:0001671) help
..expandAbnormal cardiac ventricle morphology (HP:0001713) help
..expandAbnormal cardiomyocyte morphology (HP:0031331) help
..expandAbnormal connection of the cardiac segments (HP:0011545) help
..expandAbnormal endocardium morphology (HP:0004306) help
..expandAbnormal heart valve morphology (HP:0001654) help
..expandAbnormal myocardium morphology (HP:0001637) help
..expandAbnormal pericardium morphology (HP:0001697) help
..expandAbnormal spatial orientation of the cardiac segments (HP:0011534) help
..expandCongenital malformation of the left heart (HP:0045017) help
..expandCongenital malformation of the right heart (HP:0011723) help
..expandHypoplastic heart (HP:0001961) help
..expandNeoplasm of the heart (HP:0100544) 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:0001640HP:0001640Cardiomegaly0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0001640HP:0001640Cardiomegaly0ABCC6 CL E G H36857OMIM:614473Arterial calcification, generalized, of infancy, 2415
HP:0001640HP:0001640Cardiomegaly0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0001640HP:0001640Cardiomegaly0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0001640HP:0001640Cardiomegaly0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent254
HP:0001640HP:0001640Cardiomegaly0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0001640HP:0001640Cardiomegaly0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0001640HP:0001640Cardiomegaly0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent94
HP:0001640HP:0001640Cardiomegaly0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0001640HP:0001640Cardiomegaly0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0001640HP:0001640Cardiomegaly0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 27.89
HP:0001640HP:0001640Cardiomegaly0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040284 - Very rare145
HP:0001640HP:0001640Cardiomegaly0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0001640HP:0001640Cardiomegaly0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0001640HP:0001640Cardiomegaly0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0001640HP:0001640Cardiomegaly0CACNA1C CL E G H7751390OMIM:601005Timothy syndromeHP:0040283 - Occasional572
HP:0001640HP:0001640Cardiomegaly0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0001640HP:0001640Cardiomegaly0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0001640HP:0001640Cardiomegaly0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0001640HP:0001640Cardiomegaly0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040282 - Frequent4
HP:0001640HP:0001640Cardiomegaly0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0001640HP:0001640Cardiomegaly0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001640HP:0001640Cardiomegaly0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0001640HP:0001640Cardiomegaly0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0001640HP:0001640Cardiomegaly0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040283 - Occasional101
HP:0001640HP:0001640Cardiomegaly0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0001640HP:0001640Cardiomegaly0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0001640HP:0001640Cardiomegaly0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0DES CL E G H16742770OMIM:604765CARDIOMYOPATHY, DILATED, 1I; CMD1I263
HP:0001640HP:0001640Cardiomegaly0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0DOHH CL E G H8347528662OMIM:620066
HP:0001640HP:0001640Cardiomegaly0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional747
HP:0001640HP:0001640Cardiomegaly0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0001640HP:0001640Cardiomegaly0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent172
HP:0001640HP:0001640Cardiomegaly0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0001640HP:0001640Cardiomegaly0ENPP1 CL E G H51673356OMIM:208000Arterial calcification, generalized, of infancy, 1151
HP:0001640HP:0001640Cardiomegaly0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0001640HP:0001640Cardiomegaly0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent1361
HP:0001640HP:0001640Cardiomegaly0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0001640HP:0001640Cardiomegaly0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0FOCAD CL E G H5491423377OMIM:6199913
HP:0001640HP:0001640Cardiomegaly0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent23
HP:0001640HP:0001640Cardiomegaly0FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040283 - Occasional43
HP:0001640HP:0001640Cardiomegaly0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0001640HP:0001640Cardiomegaly0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0001640HP:0001640Cardiomegaly0GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0001640HP:0001640Cardiomegaly0GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001640HP:0001640Cardiomegaly0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0001640HP:0001640Cardiomegaly0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0001640HP:0001640Cardiomegaly0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001640HP:0001640Cardiomegaly0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001640HP:0001640Cardiomegaly0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001640HP:0001640Cardiomegaly0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001640HP:0001640Cardiomegaly0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0001640HP:0001640Cardiomegaly0HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0001640HP:0001640Cardiomegaly0HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0001640HP:0001640Cardiomegaly0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent
HP:0001640HP:0001640Cardiomegaly0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0001640HP:0001640Cardiomegaly0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0001640HP:0001640Cardiomegaly0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0001640HP:0001640Cardiomegaly0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0001640HP:0001640Cardiomegaly0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0001640HP:0001640Cardiomegaly0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0001640HP:0001640Cardiomegaly0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0001640HP:0001640Cardiomegaly0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040283 - Occasional222
HP:0001640HP:0001640Cardiomegaly0JUP CL E G H37286207OMIM:601214Naxos disease.222
HP:0001640HP:0001640Cardiomegaly0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent23
HP:0001640HP:0001640Cardiomegaly0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0001640HP:0001640Cardiomegaly0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0001640HP:0001640Cardiomegaly0LAMP2 CL E G H39206501OMIM:300257Danon disease.211
HP:0001640HP:0001640Cardiomegaly0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent6
HP:0001640HP:0001640Cardiomegaly0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent13
HP:0001640HP:0001640Cardiomegaly0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001640HP:0001640Cardiomegaly0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent11
HP:0001640HP:0001640Cardiomegaly0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001640HP:0001640Cardiomegaly0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0001640HP:0001640Cardiomegaly0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0001640HP:0001640Cardiomegaly0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 4.1143
HP:0001640HP:0001640Cardiomegaly0MYH11 CL E G H46297569ORPHA:229Familial aortic dissectionHP:0040282 - Frequent418
HP:0001640HP:0001640Cardiomegaly0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent418
HP:0001640HP:0001640Cardiomegaly0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent326
HP:0001640HP:0001640Cardiomegaly0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001640HP:0001640Cardiomegaly0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040282 - Frequent47
HP:0001640HP:0001640Cardiomegaly0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0001640HP:0001640Cardiomegaly0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0001640HP:0001640Cardiomegaly0NDUFB7 CL E G H47137702OMIM:620135
HP:0001640HP:0001640Cardiomegaly0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001640HP:0001640Cardiomegaly0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0001640HP:0001640Cardiomegaly0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0001640HP:0001640Cardiomegaly0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0001640HP:0001640Cardiomegaly0NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosusHP:0040282 - Frequent3
HP:0001640HP:0001640Cardiomegaly0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001640HP:0001640Cardiomegaly0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0001640HP:0001640Cardiomegaly0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0001640HP:0001640Cardiomegaly0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0001640HP:0001640Cardiomegaly0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0001640HP:0001640Cardiomegaly0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0001640HP:0001640Cardiomegaly0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001640HP:0001640Cardiomegaly0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0001640HP:0001640Cardiomegaly0PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosusHP:0040282 - Frequent
HP:0001640HP:0001640Cardiomegaly0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0001640HP:0001640Cardiomegaly0PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxomaHP:0040283 - Occasional134
HP:0001640HP:0001640Cardiomegaly0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent41
HP:0001640HP:0001640Cardiomegaly0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms.20
HP:0001640HP:0001640Cardiomegaly0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0001640HP:0001640Cardiomegaly0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0001640HP:0001640Cardiomegaly0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0001640HP:0001640Cardiomegaly0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0001640HP:0001640Cardiomegaly0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0001640HP:0001640Cardiomegaly0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0001640HP:0001640Cardiomegaly0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0001640HP:0001640Cardiomegaly0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0001640HP:0001640Cardiomegaly0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent7
HP:0001640HP:0001640Cardiomegaly0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent260
HP:0001640HP:0001640Cardiomegaly0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent504
HP:0001640HP:0001640Cardiomegaly0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0001640HP:0001640Cardiomegaly0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0001640HP:0001640Cardiomegaly0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001640HP:0001640Cardiomegaly0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent162
HP:0001640HP:0001640Cardiomegaly0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent85
HP:0001640HP:0001640Cardiomegaly0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent239
HP:0001640HP:0001640Cardiomegaly0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent253
HP:0001640HP:0001640Cardiomegaly0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0001640HP:0001640Cardiomegaly0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0001640HP:0001640Cardiomegaly0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0001640HP:0001640Cardiomegaly0TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0001640HP:0001640Cardiomegaly0TTR CL E G H727612405ORPHA:85447ATTRV30M amyloidosisHP:0040282 - Frequent107
HP:0001640HP:0001640Cardiomegaly0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0001640HP:0001640Cardiomegaly0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001640HP:0001640Cardiomegaly0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001640HP:0001640Cardiomegaly0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked.39


Genes (128) :AARS2 ABCC6 ABCC9 ACADM ACADVL ACTA2 ACTN2 ADAR ALPK3 ASXL1 B3GAT3 BAZ1B BCL7B BMP2 BMP6 BUD23 C1QBP CACNA1C CDKN1C CHST3 CLIC2 CLIP2 COQ2 COX5A COX6B1 CPT1A CPT2 CYTB DES DNAJC30 DOHH DSP DYSF EIF4H ELN ENPP1 FBN1 FIG4 FKBP6 FOCAD FOXE3 FUCA1 GAA GATB GBA1 GNPTAB GTF2I GTF2IRD1 GTF2IRD2 H19-ICR HBB HEXB HEY2 HFE HSD17B10 HYMAI IFIH1 IGF2 JUP KCNJ8 KCNQ1 KCNQ1OT1 LAMP2 LIMK1 LOX LSM11 MAT2A METTL27 MFAP5 MLXIPL MOGS MTTP MYBPC3 MYH11 MYLK NAA10 NAGA NAGLU NCF1 NDUFB7 NDUFC2 NEK9 NEU1 NHLRC2 NKX2-6 NONO PAM16 PDSS2 PEX7 PGM1 PHYH PIGS PLAGL1 PLXND1 PRKAG2 PRKAR1A PRKG1 PSMB8 RFC2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SDHA SLC17A5 SLC22A5 SLC29A3 SMAD2 SMAD3 SMAD4 STAT2 STX1A TAPT1 TBL2 TET3 TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM270 TREX1 TRIM37 TTR VAC14 VPS37D WDR37 ZIC3

Diseases (85) :OMIM:614096 OMIM:614473 ORPHA:51608 OMIM:239850 ORPHA:1517 ORPHA:42 OMIM:201475 ORPHA:91387 OMIM:618654 ORPHA:51 OMIM:618052 ORPHA:97297 OMIM:245600 ORPHA:904 OMIM:235200 ORPHA:465508 OMIM:617713 OMIM:601005 OMIM:130650 OMIM:300886 ORPHA:324410 ORPHA:255249 OMIM:619064 OMIM:619051 OMIM:255120 ORPHA:228308 OMIM:600649 OMIM:608836 ORPHA:137675 OMIM:604765 OMIM:620066 ORPHA:158687 ORPHA:268 OMIM:208000 ORPHA:3472 OMIM:619991 ORPHA:349 OMIM:230000 ORPHA:308552 OMIM:232300 OMIM:618838 OMIM:608013 OMIM:231005 OMIM:252500 OMIM:603903 OMIM:268800 ORPHA:391428 ORPHA:96191 OMIM:182250 OMIM:601214 OMIM:300257 ORPHA:79330 ORPHA:14 OMIM:115197 ORPHA:229 OMIM:300855 ORPHA:79280 OMIM:252920 OMIM:620135 OMIM:619170 OMIM:617022 OMIM:256550 OMIM:618278 ORPHA:3384 OMIM:300967 OMIM:613320 OMIM:266500 OMIM:614921 OMIM:618143 OMIM:261740 ORPHA:615 OMIM:256040 OMIM:619259 OMIM:269920 OMIM:212140 OMIM:602782 OMIM:618886 OMIM:616897 OMIM:618798 OMIM:253250 OMIM:105210 ORPHA:85451 ORPHA:85447 OMIM:618652 OMIM:306955
 

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