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Ontology Browser

Term:
proximal myopathy and ophthalmoplegia (DOID:0080719)
Annotations: Rat: (9) Mouse: (11) Human: (11) Chinchilla: (9) Bonobo: (10) Dog: (10) Squirrel: (10) Pig: (10)
Parent Terms Term With Siblings Child Terms
Contracture +     
ophthalmoplegia +     
Aase Smith Syndrome 
Adenine Nucleotide Translocator Deficiency 
Alopecia Contractures Dwarfism Mental Retardation 
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
Axial Mesodermal Dysplasia Spectrum 
Bethlem myopathy +   
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
Bowen Syndrome 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
CANOMAD Syndrome 
chronic progressive external ophthalmoplegia +   
congenital contractural arachnodactyly  
Congenital Contractures, Torticollis, and Malignant Hyperthermia 
Congenital Ectodermal Dysplasia with Hearing Loss 
congenital fibrosis of the extraocular muscles +   
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes +   
Davenport Donlan Syndrome 
Desmin Storage Myopathy 
distal arthrogryposis type 5  
Dupuytren Contracture +  
Dystonia with Ringbinden 
Erosive Arthropathy 
exophthalmic ophthalmoplegia 
External Ophthalmoplegia and Myopia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
Familial Static Ophthalmoplegia 
GNE myopathy  
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hamano Tsukamoto Syndrome 
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
hereditary spastic paraplegia 18  
Hip Contracture  
histiocytosis-lymphadenopathy plus syndrome  
Iida Kannari Syndrome 
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +   
internuclear ophthalmoplegia 
IVIC syndrome  
lethal congenital contracture syndrome 3  
lethal restrictive dermopathy  
Macleod Fraser syndrome 
Marden-Walker Syndrome  
Mental Retardation Mietens Weber Type 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Miles-Carpenter syndrome +   
mitochondrial DNA depletion syndrome 11  
Motor Neuron Disease with Dementia and Ophthalmoplegia 
multiminicore disease  
Multiple Pterygium Syndrome, X-Linked 
Ocular Myopathy with Curare Sensitivity 
Ophthalmoplegia Totalis with Ptosis and Miosis 
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES  
Ophthalmoplegia, Familial Total, with Iris Transillumination 
Ophthalmoplegic Migraine 
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
plantar fascial fibromatosis 
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive supranuclear palsy +   
proximal myopathy and ophthalmoplegia  
A myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa on chromosome 17p13. (DO)
Rozin Hertz Goodman Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Spondylospinal Thoracic Dysostosis 
stiff skin syndrome  
Treft Sanborn Carey Syndrome 
Van den Ende-Gupta syndrome  
Volkmann contracture 
Warburg-Cinotti Syndrome  
Winchester syndrome  
Winter Harding Hyde Syndrome 
X-linked Emery-Dreifuss muscular dystrophy 1  

Synonyms
Exact Synonyms: IBM3 ;   INCLUSION BODY MYOPATHY, DOMINANT ;   Inclusion Body Myopathy 3, Autosomal Dominant ;   Inclusion Body Myopathy, Autosomal Dominant ;   MYPOP ;   inclusion body myopathy 3 ;   myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles ;   proximal myopathy with ophthalmoplegia
Primary IDs: OMIM:605637
Alternate IDs: MESH:C538330 ;   MESH:C565311
Xrefs: GARD:9494 ;   ORDO:79091
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/24193343/ "DO" "DO"

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