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Ontology Browser

Term:
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (DOID:9003625)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Absent Patella 
acromesomelic dysplasia, Grebe type  
Adenine Nucleotide Translocator Deficiency 
Antecubital Pterygium 
arthrogryposis multiplex congenita +   
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
campomelic dysplasia +   
CANOMAD Syndrome 
Cervical Rib Syndrome +  
chronic progressive external ophthalmoplegia +   
CLOVES syndrome  
Cohen-Gibson Syndrome  
Congenital Absence of Gluteal Muscles 
Congenital Absence of the Sternocleidomastoid Muscle 
congenital fibrosis of the extraocular muscles +   
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME  
Congenital Hip Dislocation +   
Congenital Limb Deformities +   
Craniofacial Abnormalities +   
distal arthrogryposis type 5  
exophthalmic ophthalmoplegia 
External Ophthalmoplegia and Myopia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
Familial Static Ophthalmoplegia 
Female Pseudohermaphroditism with Skeletal Anomalies 
Funnel Chest +   
gastroschisis +   
Hajdu-Cheney syndrome  
Hamano Tsukamoto Syndrome 
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
internuclear ophthalmoplegia 
Iridogoniodysgenesis and Skeletal Anomalies 
IVIC syndrome  
Kleefstra syndrome 2  
Klippel-Feil syndrome +   
laryngomalacia +   
Microcephaly, Short Stature, and Limb Abnormalities  
Miles-Carpenter syndrome +   
mitochondrial DNA depletion syndrome 11  
Motor Neuron Disease with Dementia and Ophthalmoplegia 
multiminicore disease  
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
Ocular Myopathy with Curare Sensitivity 
Ophthalmoplegia Totalis with Ptosis and Miosis 
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES  
This disease is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies
Ophthalmoplegia, Familial Total, with Iris Transillumination 
Ophthalmoplegic Migraine 
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Pectus Carinatum  
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive supranuclear palsy +   
proximal myopathy and ophthalmoplegia  
Pseudoarthrogryposis 
Sacral Agenesis with Vertebral Anomalies  
Sacrococcygeal Dysgenesis Association 
Schimke X-Linked Mental Retardation Syndrome 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Steel Syndrome  
Sternal Cleft 
synostosis +   
Tracheobronchomalacia +   
Treft Sanborn Carey Syndrome 
Widow's Peak Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: EORVA ;   external ophthalmoplegia with rib and vertebral anomalies
Primary IDs: OMIM:618155
Definition Sources: OMIM:618155

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