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Ontology Browser

Term:
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (DOID:9004222)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome 3  
Aarskog syndrome +   
Absent Patella 
acromesomelic dysplasia, Grebe type  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al Gazali Aziz Salem Syndrome 
Alagille syndrome  
Antecubital Pterygium 
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 +   
arthrogryposis multiplex congenita +   
Au-Kline Syndrome  
Baetz-Greenwalt syndrome 
Barth syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
Bonneau Syndrome 
campomelic dysplasia +   
Cardiac-Urogenital Syndrome  
Cardioacrofacial Dysplasia +   
Cardioauditory Syndrome of Sanchez Cascos 
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
Cardiofacioneurodevelopmental Syndrome  
Cervical Rib Syndrome +  
CHIME syndrome  
chromosome 1q21.1 duplication syndrome  
chromosome 6pter-p24 deletion syndrome 
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
cleft palate, cardiac defects, and intellectual disabillity  
CLOVES syndrome  
Cohen-Gibson Syndrome  
Congenital Absence of Gluteal Muscles 
Congenital Absence of the Sternocleidomastoid Muscle 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME  
A disease characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Failure to thrive is observed during infancy and early childhood.
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 +   
Congenital Hip Dislocation +   
Congenital Limb Deformities +   
Conotruncal Cardiac Defects  
Cor Triatriatum 
Coronary Vessel Anomalies +   
Cranioacrofacial Syndrome 
Craniofacial Abnormalities +   
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  
developmental cardiac valvular defect  
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 
Fragile Site 16p12 
Frank-Ter Haar syndrome  
Frontoocular Syndrome 
Funnel Chest +   
gastroschisis +   
Gay Feinmesser Cohen Syndrome 
Genito Palato Cardiac Syndrome 
Grange Syndrome  
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Hajdu-Cheney syndrome  
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  
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
Iridogoniodysgenesis and Skeletal Anomalies 
Isolated Noncompaction of the Ventricular Myocardium +   
jaw-winking syndrome 
Kasznica Carlson Coppedge Syndrome 
Kleefstra syndrome +   
Kleefstra syndrome 2  
Klippel-Feil syndrome +   
Larsen-like syndrome B3GAT3 type  
laryngomalacia +   
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 
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 
Microcephaly, Short Stature, and Limb Abnormalities  
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects 
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Ohdo syndrome +   
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES  
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
patent ductus arteriosus +   
Pectus Carinatum  
Pilotto Syndrome 
Powell Chandra Saal Syndrome 
Pseudoarthrogryposis 
Pseudodiastrophic Dysplasia 
Pulmonary Atresia with Intact Ventricular Septum  
Right Ventricle Hypoplasia  
Rommen Mueller Sybert Syndrome 
Saal Bulas Syndrome 
Sacral Agenesis with Vertebral Anomalies  
Sacral Meningocele Conotruncal Heart Defects 
Sacrococcygeal Dysgenesis Association 
scimitar syndrome +   
Short QT Syndrome 1  
Short QT Syndrome 2  
Short QT Syndrome 3  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Simpson-Golabi-Behmel syndrome type 1  
Sonoda Syndrome 
Steel Syndrome  
Steinfeld Syndrome 
Sternal Cleft 
Stratton-Parker Syndrome 
Structural Heart Defects and Renal Anomalies Syndrome  
Subaortic Stenosis, Membranous 
synostosis +   
Tabatznik Syndrome 
Tamari Goodman Syndrome 
TARP syndrome  
Testicular Anomalies with or without Congenital Heart Disease  
Thomas Syndrome 
Tracheobronchomalacia +   
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 +   
Widow's Peak Syndrome 
Wolff-Parkinson-White syndrome  
X-linked cardiac valvular dysplasia  
ZTTK Syndrome  

Synonyms
Exact Synonyms: CHDSKM
Primary IDs: OMIM:617602
Definition Sources: OMIM:617602

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