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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Actin-Accumulation Myopathy  
Adenine Nucleotide Translocator Deficiency 
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
autosomal recessive centronuclear myopathy +   
CANOMAD Syndrome 
Cap Myopathy +  
centronuclear myopathy +   
centronuclear myopathy 1  
centronuclear myopathy 2  
centronuclear myopathy 4  
centronuclear myopathy X-linked  
chronic progressive external ophthalmoplegia +   
Compton-North congenital myopathy  
congenital fibrosis of the extraocular muscles +   
congenital myopathy 10B  
Congenital Myopathy 11  
congenital myopathy 14  
congenital myopathy 15  
congenital myopathy 16  
congenital myopathy 17  
congenital myopathy 18  
congenital myopathy 19  
congenital myopathy 1A +   
congenital myopathy 1B  
A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. (DO)
congenital myopathy 20  
congenital myopathy 21  
congenital myopathy 22A  
congenital myopathy 22B  
congenital myopathy 2B  
congenital myopathy 2C  
congenital myopathy 4A +   
congenital myopathy 5  
congenital myopathy 6  
congenital myopathy 8  
congenital myopathy 9A  
congenital myopathy 9B  
Congenital Myopathy with Excess of Muscle Spindles  
congenital structural myopathy +   
cylindrical spirals myopathy 
distal arthrogryposis type 5  
distal myopathy Tateyama type  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
exophthalmic ophthalmoplegia 
External Ophthalmoplegia and Myopia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
Familial Static Ophthalmoplegia 
Hamano Tsukamoto Syndrome 
hyaline body myopathy +   
internuclear ophthalmoplegia 
IVIC syndrome  
Miles-Carpenter syndrome +   
mitochondrial DNA depletion syndrome 11  
Motor Neuron Disease with Dementia and Ophthalmoplegia 
myofibrillar myopathy +   
Myosclerosis, Autosomal Recessive  
myotonia congenita +   
Myotubular Myopathy with Abnormal Genital Development 
Native American myopathy  
nemaline myopathy +   
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 
Pleoconial Myopathy with Salt Craving 
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive supranuclear palsy +   
Schimke X-Linked Mental Retardation Syndrome 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Treft Sanborn Carey Syndrome 

Synonyms
Exact Synonyms: CMYP1B ;   Multicore Disease ;   Multicore Myopathy ;   Multicore Myopathy With External Ophthalmoplegia ;   congenital myopathy 1B, autosomal recessive ;   minicore disease ;   minicore myopathy ;   minicore myopathy with external ophthalmoplegia ;   multi-minicore disease ;   multiminicore disease ;   multiminicore disease with external ophthalmoplegia ;   multiminicore myopathy
Primary IDs: MESH:C564969
Alternate IDs: DOID:9004586 ;   OMIM:255320
Xrefs: GARD:10316 ;   NCI:C150608 ;   ORDO:598
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/11731287/ "DO" "DO"

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