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Myopathies, Nemaline

Disease ID: disease_node_9296

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DbxrefGARD:12033, ICD10CM:G71.21, MESH:D017696, MIM:PS161800, ORDO:607, SNOMEDCT_US_2023_03_01:75072002, UMLS_CUI:C0206157
SubclassofDOID_0081337
Data SourceDOID, MESH
SynonymsNemaline body disease, nemaline rod myopathy, rod body disease, rod myopathy
Mesh IdD017696
Mesh LabelMyopathies, Nemaline
Mesh SubclassofD020914
Doid Labelnemaline myopathy
Doid DescriptionA congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. Xref MGI.
Has SymptomSYMP_0000094
Disease Node Iddisease_node_9296
Doid IdDOID_3191
LabelMyopathies, Nemaline