Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders
0.030 GeneticVariation group BEFREE Dejerine-Sottas disease (DSD), also called hereditary motor and sensory neuropathy type III (HMSNIII), is a severe, infantile-onset, demyelinating polyneuropathy syndrome that may be associated with point mutations in either the PMP22 gene or the P0 gene and shares considerable clinical and pathologic features with CMT1. 11345007 2001
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders
0.030 GeneticVariation group BEFREE Dejerine-Sottas disease (DSD), also called hereditary motor and sensory neuropathy type III (HMSNIII), is a severe, infantile-onset demyelinating polyneuropathy syndrome that may be associated with point mutations in either the PMP22 gene or the P0 gene and shares considerable clinical and pathological features with CMT1. 10219749 1999
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders
0.030 GeneticVariation group BEFREE Dejerine-Sottas disease (DSD), also called hereditary motor and sensory neuropathy type III (HMSNIII), is a severe, infantile-onset demyelinating polyneuropathy that may be associated with point mutations in either the PMP22 gene or the Po gene and shares considerable clinical and pathological features with CMT1. 10716658 1999