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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
3MC syndrome 3  
Aarskog syndrome +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al Gazali Aziz Salem Syndrome 
Alagille syndrome  
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alpha-2-Deficient Collagen Disease 
Alport syndrome +   
AMME complex  
amyotrophic lateral sclerosis +   
Anetoderma +   
anterior segment dysgenesis +   
Aortic Coarctation +   
aortic valve disease 1  
Aortic Valve Disease 3  
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
arrhythmogenic right ventricular cardiomyopathy +   
arterial tortuosity syndrome  
Arthrogryposis Multiplex Congenita Whistling Face 
Asymmetric Short Stature Syndrome 
Au-Kline Syndrome  
autoimmune disease of skin and connective tissue +   
autosomal genetic disease +   
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baetz-Greenwalt syndrome 
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Barth syndrome +   
Bartter disease +   
basal laminar drusen  
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
bone disease +   
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
Bonneau Syndrome 
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Brugada syndrome +   
bullous skin disease +   
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
Camurati-Engelmann disease +   
Cardiac-Urogenital Syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
cartilage disease +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
CEBALID Syndrome  
cellulitis +   
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
CHIME syndrome  
CHITAYAT SYNDROME  
chondrodysplasia punctata +   
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 6pter-p24 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
chronic interstitial cystitis 
ciliopathy +   
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
cleft palate, cardiac defects, and intellectual disabillity  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
CODAS syndrome  
collagen disease +   
combined oxidative phosphorylation deficiency 2  
cone-rod dystrophy +   
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Fascial Dystrophy 
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 +   
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital vertical talus  
Connective Tissue Neoplasms +   
Conotruncal Cardiac Defects  
Cor Triatriatum 
Cornelia de Lange syndrome +   
Coronary Vessel Anomalies +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
corticosteroid-binding globulin deficiency  
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Crisscross Heart 
Crouzon syndrome +   
Curly Hair-Acral Keratoderma-Caries Syndrome 
cutaneous lupus erythematosus +   
cutis laxa +   
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
dental pulp disease +   
dermatomyositis +   
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
developmental cardiac valvular defect  
dextro-looped transposition of the great arteries +   
dextrocardia +   
Diaphanospondylodysostosis  
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1Z  
distal arthrogryposis type 6 
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Dupuytren Contracture +  
Ebstein anomaly  
Ectopia Cordis 
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 
Eisenmenger Complex  
Ellis Yale Winter Syndrome 
Emanuel Syndrome 
enthesopathy +  
Erosive Arthropathy 
erythrokeratodermia variabilis +   
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
Familial Anomalous Origin of Right Pulmonary Artery 
familial hemophagocytic lymphohistiocytosis 5  
familial nephrotic syndrome +   
Fanconi anemia complementation group F  
Fanconi anemia complementation group G  
Fanconi anemia complementation group J  
Fanconi anemia complementation group N  
fasciitis +   
fetal akinesia deformation sequence syndrome +   
fetal encasement syndrome  
FG Syndrome 5 
fibrodysplasia ossificans progressiva  
Floating-Harbor syndrome  
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Frank-Ter Haar syndrome  
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
funisitis 
Game Friedman Paradice Syndrome 
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
gene duplication disease +   
Genito Palato Cardiac Syndrome 
Genitopatellar Syndrome  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grange Syndrome  
Grant Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heart Defects Limb Shortening 
heart septal defect +   
Heart-Hand Syndrome, Slovenian Type  
Heart-Hand Syndrome, Spanish Type 
Hecht Scott Syndrome 
Hennekam 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 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
homocystinuria +   
Humeroradial Synostosis with Craniofacial Anomalies 
hyaline fibromatosis syndrome  
hydrolethalus syndrome +   
Hypertelorism +   
hypertelorism, microtia, facial clefting syndrome 
hypochondrogenesis  
hypoplastic left heart syndrome +   
hypoplastic right heart syndrome  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
interstitial keratitis +  
interstitial lung disease +   
isolated microphthalmia 4  
Isolated Noncompaction of the Ventricular Myocardium +   
jaw-winking syndrome 
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Juberg Hayward Syndrome  
Kapur Toriello Syndrome 
Kasznica Carlson Coppedge Syndrome 
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
lambda 5 deficiency 
Larsen-like syndrome B3GAT3 type  
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
Leichtman Wood Rohn Syndrome 
Lethal Faciocardiomelic Dysplasia 
Levocardia 
linear skin defects with multiple congenital anomalies 2  
Lipedema 
lipodystrophy +   
Loeys-Dietz syndrome +   
long QT syndrome +   
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lujan Fryns Syndrome  
Macrocephaly +   
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marden-Walker Syndrome  
Marfan syndrome +   
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
Meacham Winn Culler Syndrome  
mediastinitis +  
Mehta Lewis Patton Syndrome 
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mexican Cardiomelic Dysplasia 
microcephaly +   
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
mucinoses +   
Mullegama-Klein-Martinez syndrome  
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
multiple pterygium syndrome +   
Multisystem Autoimmune Disease with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
Neurofaciodigitorenal Syndrome 
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects 
Noonan syndrome +   
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (DO)
Noonan syndrome with multiple lentigines +   
Noonan syndrome-like disorder with loose anagen hair +   
ochronosis +  
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Ohdo syndrome +   
Opitz-GBBB syndrome +   
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
osteogenesis imperfecta type 14  
osteogenesis imperfecta type 6  
Osteopoikilosis +   
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
Pallister W Syndrome 
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
Pashayan Syndrome 
patent ductus arteriosus +   
Peyronie's disease  
Pilotto Syndrome 
Plagiocephaly +   
plantar fascial fibromatosis 
Platybasia +  
Pointer Syndrome 
Posterior Exchondrosis of Pinna 
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
Potato Nose 
Powell Chandra Saal Syndrome 
Preauricular Fistulae, Congenital 
Prieto syndrome 
primary congenital glaucoma +   
Pseudoaminopterin Syndrome 
Pseudodiastrophic Dysplasia 
pseudoxanthoma elasticum +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pulmonary Atresia with Intact Ventricular Septum  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Reardon Hall Slaney syndrome 
rheumatic disease +   
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Riddle syndrome  
Right Ventricle Hypoplasia  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Saal Bulas Syndrome 
Sacral Meningocele Conotruncal Heart Defects 
Say Meyer Syndrome  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schinzel-Giedion Syndrome  
schizophrenia 13 
schizophrenia 14 
schizophrenia 16  
schizophrenia 18  
schizophrenia 9  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
scimitar syndrome +   
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Sener Syndrome 
Short QT Syndrome 1  
Short QT Syndrome 2  
Short QT Syndrome 3  
Short Stature and Facioauriculothoracic Malformations 
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
Short Stature-Obesity Syndrome 
SHOX-related short stature  
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 1  
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Splenogonadal Fusion Limb Defects Micrognatia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloocular Syndrome, Autosomal Recessive  
Steinfeld Syndrome 
Stickler syndrome +   
Stratton-Parker Syndrome 
Structural Heart Defects and Renal Anomalies Syndrome  
Subaortic Stenosis, Membranous 
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
synovitis +   
systemic lupus erythematosus +   
Tabatznik Syndrome 
Tamari Goodman Syndrome 
TARP syndrome  
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy syndrome  
Testicular Anomalies with or without Congenital Heart Disease  
Tetrasomy X 
Thomas Syndrome 
Tollner Horst Manzke Syndrome 
trichodontoosseous syndrome  
tricuspid atresia +   
Trilogy of Fallot 
Turner syndrome +   
Uhl Anomaly 
Urioste Martinez-Frias Syndrome 
VACTERL association +   
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
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 +   
Volkmann contracture 
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Wolff-Parkinson-White syndrome  
Worth syndrome  
X-linked cardiac valvular dysplasia  
X-linked monogenic disease +   
Y-linked monogenic disease +   
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: Male Turner Syndrome ;   NOONAN'S SYNDROME ;   Noonan Ehmke Syndrome ;   Pseudo Ullrich Turner Syndrome ;   Turner like syndrome ;   Turner phenotype with normal karyotype ;   Turner's phenotype, karyotype normal ;   Ullrich Noonan syndrome ;   familial Turner syndrome ;   female pseudo Turner syndrome ;   male Turner's syndrome
Narrow Synonyms: pterygium colli syndrome
Primary IDs: MESH:D009634
Xrefs: GARD:10955 ;   ICD10CM:Q87.19 ;   NCI:C34854 ;   NCI:C75459 ;   OMIM:PS163950 ;   ORDO:648
Definition Sources: https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition "DO", https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome "DO"

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