Disease: Congenital absence of breast with absent nipple ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432357
Disease: Congenital absence of breast with absent nipple
Congenital absence of breast with absent nipple 		0.310 GermlineCausalMutation disease ORPHANET Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with amastia, our results indicate a key role for PTPRF in the development of the nipple-areola region. 24781087 2014
CUI: C0432357
Disease: Congenital absence of breast with absent nipple
Congenital absence of breast with absent nipple 		0.310 Biomarker disease BEFREE Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with amastia, our results indicate a key role for PTPRF in the development of the nipple-areola region. 24781087 2014