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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Cardiovascular Abnormalities +     
Developmental Disease +     
heart disease +     
physical disorder +     
Aberrant Subclavian Artery 
Acute Heart Injury  
agenesis of corpus callosum, cardiac, ocular, and genital syndrome  
agnathia-otocephaly complex  
arthrogryposis multiplex congenita +   
autoimmune cardiomyopathy 
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
bone development disease +   
Carcinoid Heart Disease 
Cardiac Arrhythmias +   
Cardiac Fibrosis +   
Cardiac Output, Low  
cardiac tuberculosis +  
Cardiomegaly +   
cardiomyopathy +   
caudal regression syndrome  
chronic atrial and intestinal dysrhythmia  
cleft palate-lateral synechia syndrome 
Compton-North congenital myopathy  
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia +   
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
congenital epulis 
congenital fibrosarcoma  
congenital fibrosis of the extraocular muscles +   
Congenital Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
congenital heart disease +   
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
congenital myopathy 4A +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
Congenital, Hereditary, and Neonatal Diseases and Abnormalities +   
congestive heart failure +   
cryptophthalmia +   
cystic echinococcosis  
cysticercosis +  
endocarditis +   
endocardium disease +   
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
fetal akinesia deformation sequence syndrome +   
gastroschisis +   
GM1 gangliosidosis type 1  
heart aneurysm +   
heart conduction disease +   
heart lipoma +  
Heart Neoplasms +   
Heart Rupture +   
heart valve disease +   
heterophyiasis 
High Cardiac Output  
hypertensive heart disease  
hypospadias +   
immunoglobulin light chain amyloidosis  
imperforate anus +   
Klippel-Feil syndrome +   
Language Development Disorders +   
large congenital melanocytic nevus  
laryngomalacia +   
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
Meckel's diverticulum 
MLS syndrome +   
Mosaic Variegated Aneuploidy Syndrome 6  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myocardial Ischemia +   
myocardial stunning  
myotonia congenita +   
neural tube defect +   
Neurodevelopmental Disorders +   
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
omphalocele  
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
pericardium disease +   
Piepkorn Karp Hickok syndrome 
Pneumopericardium 
Poland syndrome 
polydactyly +   
Postpericardiotomy Syndrome 
primary congenital glaucoma +   
RADIO-TARTAGLIA SYNDROME  
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
RAUCH-STEINDL SYNDROME  
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Silver-Russell syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Thrombocytopenia 8  
TORCH syndrome 
toxocariasis +   
transthyretin amyloidosis  
Vascular Malformations +   
Ventricular Dysfunction +   
Ventricular Outflow Obstruction +   
visceral heterotaxy +   
VISS syndrome  
wild-type amyloidosis 
YOON-BELLEN NEURODEVELOPMENTAL SYNDROME  
Zika virus congenital syndrome 
 22q11 Deletion Syndrome +   
 3MC syndrome 3  
 Aarskog syndrome +   
 acrocardiofacial syndrome 
 Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
 Al Gazali Aziz Salem Syndrome 
 Alagille syndrome  
 Aortic Coarctation +   
 aortic valve disease 1  
 aortic valve disease 3  
 Aortico-Ventricular Tunnel 
 Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
 arrhythmogenic right ventricular cardiomyopathy +   
 Au-Kline Syndrome  
 Baetz-Greenwalt Syndrome 
 Barth syndrome +   
 Beaulieu-Boycott-Innes Syndrome  
 Beemer Ertbruggen Syndrome 
 Bilateral Amastia with Ureteral Triplication and Dysmorphism 
 Bonneau Syndrome 
 Cardiac Valvular Dysplasia +   
 Cardiac-Urogenital Syndrome  
 Cardioacrofacial Dysplasia +   
 Cardioauditory Syndrome of Sanchez Cascos 
 Cardiocranial Syndrome 
 cardiofaciocutaneous syndrome +   
 Cardiofacioneurodevelopmental Syndrome  
 CHIME syndrome  
 chromosome 1q21.1 duplication syndrome  
 chromosome 6pter-p24 deletion syndrome 
 cleft palate, cardiac defects, and intellectual disabillity  
 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME  
 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
 congenital heart defects, hamartomas of tongue, and polysyndactyly  
 Congenital Heart Defects, Multiple Types +   
 Congenital Heart Defects, X-Linked +   
 Conotruncal Cardiac Defects  
 Cor Triatriatum 
 Coronary Vessel Anomalies +   
 Cranioacrofacial Syndrome 
 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
 Craniofaciofrontodigital Syndrome 
 Crisscross Heart 
 Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
 dextro-looped transposition of the great arteries +   
 dextrocardia +   
 Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 
 Ebstein anomaly  
 Ectopia Cordis 
 Ectrodactyly Cardiopathy Dysmorphism 
 Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 
 Eisenmenger Complex  
 Ellis Yale Winter Syndrome 
 Emanuel Syndrome 
 Faciocardiomelic Syndrome 
 Faciocardiorenal Syndrome 
 Familial Anomalous Origin of Right Pulmonary Artery 
 Frank-Ter Haar syndrome  
 Frontoocular Syndrome 
 Gay Feinmesser Cohen Syndrome 
 Genito Palato Cardiac Syndrome 
 Grange Syndrome  
 Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
 Heart Defects Limb Shortening 
 heart septal defect +   
 Heart-Hand Syndrome, Slovenian Type  
 Heart-Hand Syndrome, Spanish Type 
 Hecht Scott Syndrome 
 Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction  
 Hittner Hirsch Kreh Syndrome  
 Ho Kaufman Mcalister Syndrome 
 Holt-Oram syndrome  
 Holzgreve-Wagner-Rehder syndrome 
 hydrolethalus syndrome +   
 hypertelorism, microtia, facial clefting syndrome 
 hypoplastic left heart syndrome +   
 hypoplastic right heart syndrome  
 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
 Isolated Noncompaction of the Ventricular Myocardium +   
 jaw-winking syndrome 
 Kasznica Carlson Coppedge Syndrome 
 Kleefstra syndrome +   
 Larsen-like syndrome B3GAT3 type  
 Lethal Faciocardiomelic Dysplasia 
 Levocardia 
 long QT syndrome +   
 Lowry Maclean syndrome 
 Marfan syndrome +   
 McDonough Syndrome 
 McKusick-Kaufman syndrome  
 McPherson Clemens Syndrome 
 Meacham Winn Culler Syndrome  
 Mehta Lewis Patton Syndrome 
 Membranous Subaortic Stenosis 
 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
 Mexican Cardiomelic Dysplasia 
 Microcephaly Seizures Mental Retardation Heart Disorders 
 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
 Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects 
 Noonan syndrome +   
 Noonan syndrome with multiple lentigines +   
 Ohdo syndrome +   
 pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
 patent ductus arteriosus +   
 Pilotto Syndrome 
 Powell Chandra Saal Syndrome 
 Pseudodiastrophic Dysplasia 
 Pulmonary Atresia with Intact Ventricular Septum  
 Right Ventricle Hypoplasia  
 Rommen Mueller Sybert Syndrome 
 Saal Bulas Syndrome 
 Sacral Meningocele Conotruncal Heart Defects 
 scimitar syndrome +   
 Short QT Syndrome 1  
 Short QT Syndrome 2  
 Short QT Syndrome 3  
 Short Stature, Developmental Delay, and Congenital Heart Defects  
 Simpson-Golabi-Behmel syndrome type 1  
 Sonoda Syndrome 
 Steinfeld Syndrome 
 Stratton-Parker Syndrome 
 Structural Heart Defects and Renal Anomalies Syndrome  
 Tabatznik Syndrome 
 Tamari Goodman Syndrome 
 TARP syndrome  
 Testicular Anomalies with or without Congenital Heart Disease  
 Thomas Syndrome 
 tricuspid atresia +   
 Trilogy of Fallot 
 Turner syndrome +   
 Uhl Anomaly 
 VACTERL association +   
 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
 Ventricular Extrasystoles Perodactyly Robin Sequence 
 Verloove-Vanhorick Brubakk Syndrome 
 visceral heterotaxy +   
 Wolff-Parkinson-White syndrome  
 X-linked cardiac valvular dysplasia  

Synonyms
Exact Synonyms: Heart Abnormalities ;   Heart Abnormality ;   Heart, Malformation Of ;   congenital anomaly of cardiovascular system ;   congenital anomaly of heart ;   congenital heart defect ;   congenital heart defects ;   heart defect ;   heart malformation ;   malformation of the heart
Narrow Synonyms: isolated nonsyndromic congenital heart disease ;   malformation of the heart and great vessels
Primary IDs: MESH:D006330
Xrefs: EFO:0005207 ;   EFO:0005269 ;   ICD10CM:Q24.9 ;   ICD9CM:746.9 ;   MONDO:0024239 ;   NCI:C34666 ;   NCI:C95834 ;   OMIM:PS212093
Definition Sources: MESH:D006330

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