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Ontology Browser

Term:
Cerebellar, Ocular, Craniofacial, and Genital Syndrome (DOID:9008126)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME  
Aland Island eye disease  
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
amblyopia +   
AMME complex  
ancylostomiasis +  
Arima Syndrome 
Arthrogryposis Multiplex Congenita Whistling Face 
Asthenopia  
Asymmetric Short Stature Syndrome 
Au-Kline Syndrome  
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
baylisascariasis 
Behrens Baumann Dust Syndrome 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blindness +   
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
Cardioacrofacial Dysplasia +   
CEBALID Syndrome  
Cerebellar Degeneration-Related Autoantigen 3 
cerebellar hypoplasia +   
Cerebellar Neoplasms +   
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
A disease characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment.
Cerebelloparenchymal Disorder VI 
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
CHITAYAT SYNDROME  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
CODAS syndrome  
Cogan syndrome +   
combined oxidative phosphorylation deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
conjunctival disease +   
corneal disease +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
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  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Curly Hair-Acral Keratoderma-Caries Syndrome 
cysticercosis +  
Dandy-Walker syndrome +   
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Diaphanospondylodysostosis  
dipetalonemiasis 
distal arthrogryposis type 6 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Dykes Markes Harper Syndrome 
Dystonia with Cerebellar Atrophy 
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Encephalocraniocutaneous Lipomatosis  
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Eye Abnormalities +   
eye accommodation disease +  
eye degenerative disease +   
Eye Hemorrhage +   
Eye Infections +   
Eye Injuries +   
Eye Manifestations +   
Eye Neoplasms +   
eyelid disease +   
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 
female reproductive system disease +   
fetal encasement syndrome  
FG Syndrome 5 
Floating-Harbor syndrome  
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
fundus dystrophy +   
Game Friedman Paradice Syndrome 
geleophysic dysplasia +   
Genitopatellar Syndrome  
glaucoma +   
globe disease +   
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
gonorrhea +  
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hennekam syndrome +   
Hereditary Eye Diseases +   
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 
Hernandez Fragoso Syndrome 
holoprosencephaly +   
Humeroradial Synostosis with Craniofacial Anomalies 
Hypertelorism +   
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Joubert syndrome +   
Juberg Hayward Syndrome  
Kapur Toriello Syndrome 
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
L-2-hydroxyglutaric aciduria  
lacrimal apparatus disease +   
Larsen-like syndrome B3GAT3 type  
Leichtman Wood Rohn Syndrome 
lens disease +   
leprosy +   
linear skin defects with multiple congenital anomalies 2  
Loeys-Dietz syndrome +   
loiasis 
Loucks-Innes Syndrome  
Lujan Fryns Syndrome  
Macrocephaly +   
male reproductive system disease +   
Mandibuloacral Dysplasia Progeroid Syndrome  
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marfan syndrome +   
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
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 
microcephaly +   
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
microphthalmia +   
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miller Fisher syndrome 
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Mullegama-Klein-Martinez syndrome  
Multisystem Autoimmune Disease with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
Neurofaciodigitorenal Syndrome 
Neuromuscular Oculoauditory Syndrome  
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
ocular albinism +   
ocular hypertension +   
ocular hypotension +   
ocular motility disease +   
Ocular Neovascularization +   
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
ophthalmia nodosa 
ophthalmomyiasis 
optic nerve disease +   
orbital disease +   
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
Pallister W Syndrome 
Paraneoplastic Cerebellar Degeneration 
Pashayan Syndrome 
philophthalmiasis 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
pontocerebellar hypoplasia +   
Porencephaly Cerebellar Hypoplasia Malformations 
PORETTI-BOLTSHAUSER SYNDROME  
Posterior Exchondrosis of Pinna 
Potato Nose 
Preauricular Fistulae, Congenital 
Prieto syndrome 
primary cerebellar degeneration +   
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pupil disease +   
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Reardon Hall Slaney syndrome 
refractive error +   
reproductive organ benign neoplasm +   
reproductive organ cancer +   
retinal disease +   
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Say Meyer Syndrome  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schinzel-Giedion Syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
scleral disease +   
scotoma +  
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Sener Syndrome 
Short Stature and Facioauriculothoracic Malformations 
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Splenogonadal Fusion Limb Defects Micrognatia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloocular Syndrome, Autosomal Recessive  
Stevenson-Carey Syndrome 
Subacute Cerebellar Degeneration 
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy syndrome  
Tetrasomy X 
Tollner Horst Manzke Syndrome 
toxocariasis +   
trichodontoosseous syndrome  
Urioste Martinez-Frias Syndrome 
uveal disease +   
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Vision Disorders +   
visual pathway disease +   
vitreous detachment +   
vitreous disease +   
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Worth syndrome  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: COFG
Primary IDs: OMIM:618479

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