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Myopathy With Extrapyramidal Signs

Disease ID: disease_node_18925

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Dbxref	GARD:12978, MIM:615673, ORDO:401768
Subclassof	DOID_423, DOID_0050737
Data Source	DOID
Synonyms	MPXPS, proximal myopathy with extrapyramidal signs
Doid Label	myopathy with extrapyramidal signs
Doid Description	A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.
Has Symptom	SYMP_0000094
Has Material Basis In	GENO_0000148
Disease Node Id	disease_node_18925
Doid Id	DOID_0111335
Label	Myopathy With Extrapyramidal Signs

Outgoing r'ship HAS_SYMPTOM to/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Muscular Diseases(ID:disease_node_5316) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)

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