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Ontology Browser

Parent Terms Term With Siblings Child Terms
Abnormal Reflexes +     
Jaw Abnormalities +     
ptosis +     
22q11 Deletion Syndrome +   
3MC syndrome 2  
3MC syndrome 3  
Aarskog syndrome +   
accessory nerve disease +  
Acrorenal Mandibular Syndrome 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
agnathia-otocephaly complex  
Al Gazali Aziz Salem 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 +   
Au-Kline Syndrome  
Baetz-Greenwalt syndrome 
Bahemuka Brown syndrome 
Baraitser-Winter syndrome +   
Barth syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Blepharoptosis Myopia Ectopia Lentis 
Bonneau Syndrome 
CAPOS Syndrome  
Cardiac-Urogenital Syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
ceft palate, cardiac defects, and intellectual disabillity  
Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 
chromosome 1q21.1 duplication syndrome 
chromosome 6pter-p24 deletion syndrome 
cleft palate +   
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
cleft palate-lateral synechia syndrome  
Congenital Fibrosis of Extraocular Muscles, 2  
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 Myasthenic Syndrome, with Facial Dysmorphism 
congenital ptosis +   
Conotruncal Cardiac Defects  
Cor Triatriatum 
Coronary Vessel Anomalies +   
Cranial Nerve Injuries +   
cranial nerve neoplasm +   
cranial nerve palsy +  
Cranial Nerves, Congenital Paresis of 
Cranial Nerves, Recurrent Paresis of 
Cranioacrofacial Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofaciofrontodigital Syndrome 
Crisscross Heart 
Deafness Conductive Ptosis Skeletal Anomalies 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
developmental cardiac valvular defect  
dextro-looped transposition of the great arteries +   
dextrocardia +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
Ebstein anomaly  
Ectopia Cordis 
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 
Eisenmenger Complex  
Ellis Yale Winter Syndrome 
Emanuel Syndrome 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
facial nerve disease +   
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
Familial Anomalous Origin of Right Pulmonary Artery 
Fragile Site 16p12 
Frank-Ter Haar syndrome  
Frontoocular Syndrome 
Gay Feinmesser Cohen Syndrome 
Genito Palato Cardiac Syndrome 
glossopharyngeal nerve disease +   
gnathodiaphyseal dysplasia  
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 
hypoglossal nerve disease +   
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 
long QT syndrome +   
Lowry Maclean syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 
Marfan syndrome +   
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
McPherson Robertson Cammarano 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 
Micrognathism +   
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 +   
ocular motility disease +   
Ohdo syndrome +   
olfactory nerve disease +   
Oliver-McFarlane syndrome  
Ophthalmomandibulomelic Dysplasia 
Ophthalmoplegia Totalis with Ptosis and Miosis 
Ophthalmoplegic Migraine 
optic nerve disease +   
orofacial cleft +   
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
patent ductus arteriosus +   
Pilotto Syndrome 
Powell Chandra Saal Syndrome 
Prognathism +   
Pseudodiastrophic Dysplasia 
Ptosis, Strabismus, and Ectopic Pupils 
Pulmonary Atresia with Intact Ventricular Septum  
Retrognathia +   
Right Ventricle Hypoplasia  
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  
Simpson-Golabi-Behmel syndrome type 1  
Sonoda Syndrome 
Steinfeld Syndrome 
Stratton-Parker Syndrome 
Structural Heart Defects and Renal Anomalies Syndrome  
Subaortic Stenosis, Membranous 
Tabatznik Syndrome 
Tamari Goodman Syndrome 
TARP syndrome  
Testicular Anomalies with or without Congenital Heart Disease  
third cranial nerve disease +   
Thomas Syndrome 
Treft Sanborn Carey Syndrome 
tricuspid atresia +   
trigeminal nerve disease +   
Trilogy of Fallot 
trochlear nerve disease +  
Tucker Syndrome 
Turner syndrome +   
Uhl Anomaly 
VACTERL association +   
Vagus nerve disease +   
Van Bogaert-Hozay Syndrome 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verloove-Vanhorick Brubakk Syndrome 
Vertebral Fusion Posterior Lumbosacral Blepharoptosis 
vestibulocochlear nerve disease +   
visceral heterotaxy +   
Weissenbacher-Zweymuller syndrome +   
Widow's Peak Syndrome 
Wolff-Parkinson-White syndrome  
X-linked cardiac valvular dysplasia  
Zunich Neuroectodermal Syndrome  

Exact Synonyms: Familial Marcus Gunn phenomenon ;   Jaw-winking ;   Marcus Gunn Phenomenon ;   Marcus-Gunn syndrome ;   Maxillopalpebral synkinesis ;   abnormal innervation syndrome of eyelid ;   jaw-blinking ;   pterygoid-levator synkinesis
Primary IDs: MESH:C535908
Alternate IDs: OMIM:154600 ;   RDO:0001274
Xrefs: ICD10CM:Q07.8 ;   ICD9CM:374.43

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