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Ontology Browser

Term:
multiminicore disease (DOID:0080991)
Annotations: Rat: (3) Mouse: (3) Human: (4) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
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 +  
central core disease +   
centronuclear myopathy 1  
centronuclear myopathy 2  
centronuclear myopathy 4  
centronuclear myopathy X-linked  
chronic progressive external ophthalmoplegia +   
congenital fiber-type disproportion +   
congenital fibrosis of the extraocular muscles +   
distal arthrogryposis type 5  
distal muscular dystrophy Tateyama type  
exophthalmic ophthalmoplegia 
External Ophthalmoplegia and Myopia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
Familial Static Ophthalmoplegia 
Hamano Tsukamoto Syndrome 
internuclear ophthalmoplegia 
IVIC syndrome  
Miles-Carpenter syndrome +   
mitochondrial DNA depletion syndrome 11  
Motor Neuron Disease with Dementia and Ophthalmoplegia 
multiminicore disease  
A 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)
myofibrillar myopathy +   
Myosclerosis, Autosomal Recessive  
Myotubular Myopathy with Abnormal Genital Development 
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 +   
proximal myopathy and ophthalmoplegia  
Schimke X-Linked Mental Retardation Syndrome 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Treft Sanborn Carey Syndrome 

Synonyms
Exact Synonyms: Minicore Myopathy with External Ophthalmoplegia ;   Multi-Minicore Disease ;   Multicore Disease ;   Multicore Myopathy ;   Multicore Myopathy With External Ophthalmoplegia ;   minicore disease ;   minicore myopathy ;   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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