Disease: Brachydactyly syndrome type C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1300268
Disease: Brachydactyly syndrome type C
Brachydactyly syndrome type C 		0.300 GeneticVariation disease ORPHANET A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. 16957682 2006