Version: 8.0.0Date: Tue Jan 28 2025
Disease Alleles: Hsap\TPM2<E41K.UAS.GFP> (Dme)
Disease
Source: DOID:0050646
Definition: A muscle tissue disease characterized by congenital joint contractures of hand and feet.
Disease
Source: DOID:0110932
Definition: A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.
Disease
Source: DOID:3191
Definition: A 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.