DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Kyphosis deformity of spine ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.020 Biomarker phenotype BEFREE For the standing assessments of kyphosis only, after adjusting for age, sex, weight and hip BMD, persons with lower TLM were more likely to be hyperkyphotic. 28369088 2017
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.020 AlteredExpression phenotype BEFREE These mice show many pathologic and phenotypic signs typical of DMD in humans including kyphosis and shorter life span, all of which are not seen in the mdx mice due to their utrophin upregulation that partially compensates the loss of dystrophin functions and leads to mild phenotypes. 18973234 2009