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Term:
Oculomelic Amyoplasia (DOID:9008842)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Arthrogryposis +     
ophthalmoplegia +     
retinal disease +     
Adenine Nucleotide Translocator Deficiency 
Al Gazali Sabrinathan Nair Syndrome 
angioid streaks +  
ARC syndrome +   
Arthrogryposis and Ectodermal Dysplasia 
arthrogryposis due to muscular dystrophy  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis Multiplex Congenita Whistling Face 
ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Mental Retardation, and Seizures  
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
Arthrogryposis, X-Linked, Type V 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Ausems Wittebol-Post Hennekam Syndrome 
bestrophinopathy  
Bietti crystalline corneoretinal dystrophy  
Bothnia retinal dystrophy  
Boylan Dew Greco Syndrome 
bradyopsia  
Bruck syndrome +   
Camptodactyly-Ichthyosis Syndrome 
CANOMAD Syndrome 
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement 
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Central Serous Chorioretinopathy  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
chorioretinal scar +  
chronic progressive external ophthalmoplegia +   
cone dystrophy +   
Congenital Arthrogryposis with Anterior Horn Cell Disease  
Congenital Contractural Arachnodactyly  
congenital fibrosis of the extraocular muscles +   
Congenital Neuropathy with Arthrogryposis Multiplex 
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A  
Cyprus Facial Neuromusculoskeletal Syndrome 
distal arthrogryposis +   
Distal Arthrogryposis Multiplex Congenita, Type 1 +   
Distal Arthrogryposis Multiplex Congenita, X-Linked  
Distal Arthrogryposis, Moore Weaver Type 
Distal Arthrogryposis, Type 10 
Distal Arthrogryposis, Type 2 +   
Distal Arthrogryposis, Type 4 
Distal Arthrogryposis, Type 5D  
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Arthrogryposis, with Impaired Proprioception and Touch  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Ehlers-Danlos Syndrome, Musculocontractural Type 2  
enhanced S-cone syndrome  
exophthalmic ophthalmoplegia 
External Ophthalmoplegia and Myopia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
Fetal Akinesia Deformation Sequence +   
Fleck Retina, Familial Benign  
FLOTCH Syndrome 
Freeman-Sheldon Syndrome  
fundus albipunctatus  
German Syndrome 
Gordon Syndrome  
Grouped Pigmentation of the Macula 
Hamano Tsukamoto Syndrome 
Hecht Syndrome  
hereditary neuropathy with liability to pressure palsies  
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 
hypertensive retinopathy  
Inclusion Body Myopathy 3, Autosomal Dominant  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
internuclear ophthalmoplegia 
Iris Hypoplasia and Glaucoma  
Jequier Kozlowski Skeletal Dysplasia 
Johnston Aarons Schelley Syndrome 
Ladda Zonana Ramer syndrome 
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
Massa Casaer Ceulemans Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Miles-Carpenter syndrome  
Minicore Myopathy with External Ophthalmoplegia  
Minicore Myopathy, Antenatal Onset, with Arthrogryposis 
mitochondrial DNA depletion syndrome 11  
Motor Neuron Disease with Dementia and Ophthalmoplegia 
Multiple Pterygium Syndrome, Lethal Type  
nerve fibre bundle defect 
neurogenic arthrogryposis multiplex congenita +   
night blindness +   
Ocular Myopathy with Curare Sensitivity 
Oculomelic Amyoplasia  
Oculootoradial Syndrome  
Ophthalmoplegia Totalis with Ptosis and Miosis 
Ophthalmoplegia, Familial Static 
Ophthalmoplegia, Familial Total, with Iris Transillumination 
Ophthalmoplegic Migraine 
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Pelvic Dysplasia Arthrogryposis of Lower Limbs 
Podder-Tolmie Syndrome 
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS  
preretinal fibrosis  
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive supranuclear palsy +   
proliferative vitreoretinopathy +   
Rambaud Galian Syndrome 
Ramos Arroyo Clark Syndrome 
Ray Peterson Scott Syndrome 
Retina Reperfusion Injury  
Retinal Aplasia 
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis  
Retinal Arteries, Tortuosity of  
retinal artery occlusion +   
retinal degeneration +   
retinal detachment +   
Retinal Dysplasia +   
retinal edema +   
Retinal Hemorrhage +   
Retinal Neoplasms +   
Retinal Neovascularization  
retinal perforation +  
retinal vascular disease +   
retinal vasculitis +   
Retinal Vasculopathy with Cerebral Leukodystrophy  
retinitis +   
retinopathy of prematurity +   
Roifman Syndrome  
rubeosis iridis 
Schimke X-Linked Mental Retardation Syndrome 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Sickle Cell Retinopathy  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spranger Schinzel Myers Syndrome 
Treft Sanborn Carey Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  

Synonyms
Exact Synonyms: Arthrogryposis with oculomotor limitation and electroretinal abnormalities ;   Arthrogryposis, Distal, Type 5 ;   Arthrogryposis, Distal, Type IIb ;   DA5 ;   DAIIB
Primary IDs: MESH:C537737 ;   OMIM:108145 ;   RDO:0003630

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