Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (DOID:9001691)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome 3  
3p deletion syndrome 
Aarskog syndrome +   
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Aziz Salem Syndrome 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Alagille syndrome  
Aortic Coarctation +   
aortic valve disease 1  
Aortic Valve Disease 3  
Aphalangia Syndactyly Microcephaly 
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
arrhythmogenic right ventricular cardiomyopathy +   
Au-Kline Syndrome  
Auriculoosteodysplasia 
Ayme-Gripp syndrome  
Baetz-Greenwalt syndrome 
Bainbridge-Ropers Syndrome  
Barth syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Bonneau Syndrome 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
brachydactyly type E2  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiac-Urogenital Syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Chitty Hall Baraitser Syndrome 
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome 
chromosome 6pter-p24 deletion syndrome 
Clark-Baraitser syndrome  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
cleft palate, cardiac defects, and intellectual disabillity  
CODAS syndrome  
Coffin Syndrome 1 
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 +   
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Cranioacrofacial Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofaciofrontodigital Syndrome 
Crisscross Heart 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Daish Hardman Lamont Syndrome 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
Dermoids of Cornea 
developmental cardiac valvular defect  
Devriendt syndrome 
dextro-looped transposition of the great arteries +   
dextrocardia +   
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 
DNA ligase IV deficiency  
Dubowitz syndrome  
Dursun Syndrome  
Dyschondrosteosis and Nephritis 
Ebstein anomaly  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Cordis 
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 
Eisenmenger Complex  
Ellis Yale Winter Syndrome 
Emanuel Syndrome 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Anomalous Origin of Right Pulmonary Artery 
Familial Cirrhosis with Pulmonary Hypertension 
Familial Osteochondritis Dissecans  
Fetal Growth Retardation +   
Filippi Syndrome  
Floating-Harbor syndrome  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Frank-Ter Haar syndrome  
Frias Syndrome 
Frontoocular Syndrome 
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genito Palato Cardiac Syndrome 
glycogen storage disease IX +   
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Grange Syndrome  
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Elbows  
Heart Defects Limb Shortening 
heart septal defect +   
Heart-Hand Syndrome, Slovenian Type  
Heart-Hand Syndrome, Spanish Type 
Hecht Scott Syndrome 
Heme Oxygenase 1 Deficiency  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk 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 
Hooft Disease 
Hunter-McAlpine Syndrome 
HUPRA Syndrome  
Hutterite Cerebroosteonephrodysplasia Syndrome 
hydrolethalus syndrome +   
hypertelorism, microtia, facial clefting syndrome 
hypoparathyroidism-retardation-dysmorphism syndrome  
hypoplastic left heart syndrome +   
hypoplastic right heart syndrome  
Idiopathic Short Stature, X-Linked  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Isolated Noncompaction of the Ventricular Myocardium +   
jaw-winking syndrome 
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kleefstra syndrome +   
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leri-Weill dyschondrosteosis  
Lethal Faciocardiomelic Dysplasia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Levocardia 
long QT syndrome +   
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
Marfan syndrome +   
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
Meacham Winn Culler Syndrome  
Megarbane Syndrome 
Mehta Lewis Patton Syndrome 
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Mexican Cardiomelic Dysplasia 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microdontia Hypodontia Short Stature 
Milner Khallouf Gibson Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects 
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Ogden syndrome  
Ohdo syndrome +   
Omodysplasia 1  
Onat Syndrome 
Osteolysis Syndrome, Recessive 
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
Partington Anderson Syndrome 
patent ductus arteriosus +   
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
persistent fetal circulation syndrome  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
Polydysspondyly 
Powell Chandra Saal Syndrome 
Premature Aging, Okamoto Type 
primary pulmonary hypertension +   
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
Pseudodiastrophic Dysplasia 
PSPH deficiency  
Pulmonary Arterial Hypertension +   
Pulmonary Atresia with Intact Ventricular Septum  
Pulmonary Edema of Mountaineers  
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis  
Pulmonary Hypertension, Hypoxia-Induced   
pulmonary venoocclusive disease +   
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Reardon Wilson Cavanagh Syndrome 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Right Ventricle Hypoplasia  
Rodrigues Blindness 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Ruijs-Aalfs syndrome  
Saal Bulas Syndrome 
Sacral Meningocele Conotruncal Heart Defects 
Say Meyer Syndrome  
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
scimitar syndrome +   
Seemanova Lesny Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Short QT Syndrome 1  
Short QT Syndrome 2  
Short QT Syndrome 3  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT syndrome  
SIDDIQI SYNDROME  
Silver-Russell Syndrome 3  
Simpson-Golabi-Behmel syndrome type 1  
Slavotinek Pike Mills Hurst Syndrome 
Sonoda Syndrome 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stratton-Parker Syndrome 
Structural Heart Defects and Renal Anomalies Syndrome  
Subaortic Stenosis, Membranous 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
Tabatznik Syndrome 
Tamari Goodman Syndrome 
TARP syndrome  
Tatton-Brown-Rahman Syndrome  
Testicular Anomalies with or without Congenital Heart Disease  
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thomas Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Tonoki Syndrome 
tricuspid atresia +   
Trilogy of Fallot 
Tsukahara Syndrome  
Turner syndrome +   
Turnpenny-Fry Syndrome  
Uhl Anomaly 
VACTERL association +   
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Volcke Soekarman Syndrome 
Weill-Marchesani Syndrome 2  
Wellesley Carmen French Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Winchester syndrome  
Wittwer Syndrome  
Wolff-Parkinson-White syndrome  
X-linked cardiac valvular dysplasia  
Young Hughes Syndrome 
Zerres Rietschel Majewski Syndrome 
Zunich Neuroectodermal Syndrome  

Synonyms
Primary IDs: MESH:C564244
Alternate IDs: OMIM:608406

paths to the root

NHLBI Logo

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