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Term:
Ritscher-Schinzel syndrome (DOID:0060565)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
16Q24.3 Microdeletion Syndrome  
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p deletion syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Adducted Thumbs Syndrome +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome  
Alagille syndrome  
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport syndrome +   
AMME complex  
amyotrophic lateral sclerosis +   
Angelman syndrome  
Anisomastia 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis Multiplex Congenita Whistling Face 
asphyxiating thoracic dystrophy +   
Asymmetric Short Stature Syndrome 
atrial heart septal defect 1  
atrial heart septal defect 2  
atrial heart septal defect 3  
atrial heart septal defect 4  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
Atrial Septal Defect Ostium Primum 
Atrial Septal Defect Sinus Venosus 
Atrial Septal Defect with Atrioventricular Conduction Defects +   
Atrial Septal Defect, Secundum Type 
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
atrioventricular septal defect +   
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant non-syndromic intellectual disability 22  
autosomal genetic disease +   
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome type 1  
Axial Mesodermal Dysplasia Spectrum 
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Bamforth-Lazarus syndrome  
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Bartter disease +   
basal laminar drusen  
Beckwith-Wiedemann syndrome +   
Ben Ari Shuper Mimouni Syndrome 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
Birk-Barel syndrome  
Birk-Landau-Perez Syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Bowen Syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
Brugada syndrome +   
Burnett Schwartz Berberian Syndrome  
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
Camurati-Engelmann disease +   
Cardiac, Facial, and Digital Anomalies with Developmental Delay  
cardiofaciocutaneous syndrome +   
Carney complex +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
CATIFA Syndrome  
caudal regression syndrome  
CEBALID Syndrome  
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 
Char syndrome  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD syndrome  
Chitayat Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
chondrodysplasia punctata +   
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 19q13.11 deletion syndrome 
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 5p13 duplication syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
ciliopathy +   
Ciuffo Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
COACH syndrome  
Cockayne syndrome +   
CODAS syndrome  
Coffin-Siris syndrome +   
combined oxidative phosphorylation deficiency 2  
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 4  
cone-rod dystrophy +   
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital secretory sodium diarrhea 3  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornelia de Lange syndrome +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
corticosteroid-binding globulin deficiency  
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
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 +   
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crouzon syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Dandy Walker Cyst +   
Dandy Walker Malformation Postaxial Polydactyly 
Dandy Walker Variant 
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 
Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant 
Deaf-Blind Disorders +   
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Desmosterolosis  
Devriendt syndrome 
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  
Dincsoy Salih Patel Syndrome 
distal arthrogryposis type 6 
distal arthrogryposis type 7  
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Down syndrome +   
Dursun Syndrome  
ectodermal dysplasia +   
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly Cardiopathy Dysmorphism 
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
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  
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
familial hemophagocytic lymphohistiocytosis 5  
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
familial nephrotic syndrome +   
Fanconi anemia complementation group F  
Fanconi anemia complementation group G  
Fanconi anemia complementation group J  
Fanconi anemia complementation group N  
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fetal akinesia deformation sequence syndrome +   
fetal encasement syndrome  
FG Syndrome 5 
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor syndrome  
Forebrain Defects  
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Fragile Site 16p12 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fraser-Like Syndrome 
Fried Goldberg Mundel Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
geleophysic dysplasia +   
gene duplication disease +   
Genitopatellar Syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glutamyl Ribose-5-Phosphate Storage Disease 
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Guttmacher syndrome  
Hadziselimovic Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hennekam syndrome +   
Hersh Podruch Weisskopk Syndrome 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hittner Hirsch Kreh Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Humeroradial Synostosis with Craniofacial Anomalies 
Hunter-Macdonald Syndrome 
Hyperphosphatasia with Mental Retardation +   
Hypertelorism +   
hypochondrogenesis  
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
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 
Insulin-Like Growth Factor I, Resistance To  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
isolated microphthalmia 4  
Isolated Noncompaction of the Ventricular Myocardium +   
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jones Hersh Yusk Syndrome 
Joubert syndrome 1  
Juberg Hayward Syndrome  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleefstra syndrome +   
Kleiner Holmes Syndrome 
Klippel-Feil syndrome 4  
Koolen de Vries syndrome  
Kosaki Overgrowth Syndrome  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
lambda 5 deficiency 
Larsen-like syndrome B3GAT3 type  
Larsen-Like Syndromes +   
lateral meningocele syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Le Marec Bracq Picaud Syndrome 
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
Leichtman Wood Rohn Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Light Fixation Seizure Syndrome 
linear nevus sebaceous syndrome +   
linear skin defects with multiple congenital anomalies 2  
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lujan Fryns Syndrome  
Lung Agenesis +   
Lutembacher's syndrome 
Lutz Richner Landolt Syndrome 
Lymphatic Malformation 7  
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
Macrocephaly +   
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Manouvrier Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marfan Syndrome, Autosomal Recessive  
Marles Greenberg Persaud Syndrome  
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
Melhem Fahl 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, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Michels Caskey Syndrome 
microcephaly +   
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microdontia Hypodontia Short Stature 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microspherophakia with Hernia 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
MIRAGE SYNDROME  
MLS syndrome +   
Mobius syndrome +   
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
mucolipidosis II alpha/beta  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Mullegama-Klein-Martinez syndrome  
Muller Barth Menger Syndrome 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
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 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Novak Syndrome 
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Ogden syndrome  
Opitz-GBBB syndrome +   
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Oslam syndrome 
osteogenesis imperfecta type 14  
osteogenesis imperfecta type 6  
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Pashayan Syndrome 
patent foramen ovale  
Patterson Pseudoleprechaunism Syndrome 
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Perisylvian Syndrome +   
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pilotto Syndrome 
Plagiocephaly +   
Platybasia +  
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
polycystic kidney disease +   
postaxial acrofacial dysostosis  
Posterior Exchondrosis of Pinna 
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
Potato Nose 
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Preauricular Fistulae, Congenital 
Premature Aging, Okamoto Type 
Prieto syndrome 
primary congenital glaucoma +   
Primrose Syndrome  
prolidase deficiency  
Proteus syndrome +   
prune belly syndrome +   
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Deficiency, X-Linked 
Radial Ray Hypoplasia Choanal Atresia 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Raine Syndrome  
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Reardon Hall Slaney syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
Renal-Hepatic-Pancreatic Dysplasia 1  
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Riddle syndrome  
Ritscher-Schinzel syndrome +   
A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Meningocele Conotruncal Heart Defects 
Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Say Field Coldwell syndrome 
Say Meyer Syndrome  
Say 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  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seemanova Lesny Syndrome 
Sener Syndrome 
Seow Najjar Syndrome 
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature and Facioauriculothoracic Malformations 
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Short Stature-Obesity Syndrome 
Shprintzen Omphalocele Syndrome 
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 2  
Smith-Kingsmore Syndrome  
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sonoda Syndrome 
Sotos syndrome +   
Splenogonadal Fusion Limb Defects Micrognatia 
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spondyloocular Syndrome, Autosomal Recessive  
Squalene Synthase Deficiency  
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Abidi type 
Tamari Goodman Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Tel Hashomer Camptodactyly Syndrome 
Telecanthus +   
Temtamy syndrome  
Tetraamelia Multiple Malformations 
Tetraamelia Syndrome 2  
Tetrasomy X 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thymic Aplasia with Fetal Death 
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome +   
Tricho-Dento-Osseous Syndrome 1 
trichodontoosseous syndrome  
trichothiodystrophy +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome  
ulnar-mammary syndrome  
Urioste Martinez-Frias Syndrome 
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
Van Bogaert-Hozay Syndrome 
Van den Ende-Gupta syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vertebral Body Fusion Overgrowth 
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +   
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Weaver syndrome  
Weill-Marchesani syndrome +   
WEISS-KRUSZKA SYNDROME  
Weyers acrofacial dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winchester syndrome  
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Wolf-Hirschhorn syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Worth syndrome  
WT Limb Blood Syndrome 
X-linked monogenic disease +   
XK Aprosencephaly 
Y-linked monogenic disease +   
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zimmerman Laband Syndrome +   
ZTTK Syndrome  

Synonyms
Exact Synonyms: 3C syndrome ;   CCC dysplasia ;   Craniocerebellocardiac dysplasia ;   Dandy-Walker-like malformation with atrioventricular septal defect ;   RTSC
Primary IDs: MESH:C535313
Alternate IDs: RDO:0000358
Xrefs: OMIM:PS220210 ;   ORDO:7
Definition Sources: https://en.wikipedia.org/wiki/3C_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.