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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome 1  
3MC syndrome 2  
3MC syndrome 3  
A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. (DO)
Aarskog syndrome +   
Abuse Dwarfism Syndrome 
AGAT deficiency  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al Gazali Aziz Salem Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Alagille syndrome  
Aortic Coarctation +   
aortic valve disease 1  
Aortic Valve Disease 3  
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
arrhythmogenic right ventricular cardiomyopathy +   
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Au-Kline Syndrome  
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Barth syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bonneau Syndrome 
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cardiac Valvular Dysplasia, X-Linked  
Cardiac-Urogenital Syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 1q21.1 duplication syndrome 
chromosome 3q29 microdeletion syndrome 
chromosome 6pter-p24 deletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cohen syndrome  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
Congenital Heart Defects, and Other Congenital Anomalies  
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 HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
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  
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
Developmental Cardiac Valvular Defect  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
dextro-looped transposition of the great arteries +   
dextrocardia +   
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
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 Dysplasia, Lethal 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
Familial Anomalous Origin of Right Pulmonary Artery 
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Frontoocular Syndrome 
Gay Feinmesser Cohen Syndrome 
Genito Palato Cardiac Syndrome 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Grange Syndrome  
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Heart Defects Limb Shortening 
heart septal defect +   
Heart-Hand Syndrome, Slovenian Type  
Heart-Hand Syndrome, Spanish Type 
Hecht Scott Syndrome 
Heyn-Sproul-Jackson 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 +   
hypermethioninemia due to adenosine kinase deficiency  
hypertelorism, microtia, facial clefting syndrome 
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
hypoplastic left heart syndrome +   
hypoplastic right heart syndrome  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
Isolated Noncompaction of the Ventricular Myocardium +   
jaw-winking syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Lamb-Shaffer Syndrome  
Larsen-like syndrome B3GAT3 type  
LEOPARD syndrome +   
Levocardia 
long QT syndrome +   
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Luscan-Lumish 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, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
Non-Lissencephalic Cortical Dysplasia 
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects 
Noonan syndrome +   
Obesity, Hyperphagia, and Developmental Delay  
Ogden syndrome  
Ohdo syndrome +   
Oliver-McFarlane syndrome  
Osteosclerotic Metaphyseal Dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 
Partington Anderson Syndrome 
patent ductus arteriosus +   
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Pierpont syndrome  
Pilotto Syndrome 
Powell Chandra Saal Syndrome 
Pseudo-TORCH Syndrome +   
Pseudodiastrophic Dysplasia 
Pulmonary Atresia with Intact Ventricular Septum  
Rajab Syndrome  
Refsum Disease with Increased Pipecolic Acidemia 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Right Ventricle Hypoplasia  
Roifman-Chitayat Syndrome 
Rommen Mueller Sybert Syndrome 
Saal Bulas Syndrome 
Sacral Meningocele Conotruncal Heart Defects 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
scimitar syndrome +   
Short QT Syndrome 1  
Short QT Syndrome 2  
Short QT Syndrome 3  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Simpson-Golabi-Behmel syndrome type 1  
SNIJDERS BLOK-FISHER SYNDROME  
Sonoda Syndrome 
Steinfeld Syndrome 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stratton-Parker Syndrome 
Structural Heart Defects and Renal Anomalies Syndrome  
Subaortic Stenosis, Membranous 
succinic semialdehyde dehydrogenase deficiency  
Tabatznik Syndrome 
Tamari Goodman Syndrome 
TARP Syndrome  
Ter Haar Syndrome  
Testicular Anomalies with or without Congenital Heart Disease  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Thomas Syndrome 
tricuspid atresia +   
Trilogy of Fallot 
Turner syndrome +   
Turnpenny-Fry Syndrome  
Uhl Anomaly 
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VACTERL association  
VACTERL/VATER Association with Hydrocephalus  
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verloove-Vanhorick Brubakk Syndrome 
VERVERI-BRADY SYNDROME  
visceral heterotaxy +   
WEISS-KRUSZKA SYNDROME  
Wolff-Parkinson-White syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: 3MC3 ;   Malpuech facial clefting syndrome ;   Malpuech syndrome ;   facial clefting syndrome, Gypsy type
Primary IDs: MESH:C535704
Alternate IDs: OMIM:248340
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/21258343

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.