GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: Angel shaped phalangoepiphyseal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1739384
Disease: Angel shaped phalangoepiphyseal dysplasia
Angel shaped phalangoepiphyseal dysplasia 		0.310 GeneticVariation disease BEFREE We report here a Mexican patient with BDC and clinical features of ASPED who carries a novel mutation in CDMP1, confirming that BDC and ASPED are part of the CDMP1 mutational spectrum. 22828468 2012
CUI: C1739384
Disease: Angel shaped phalangoepiphyseal dysplasia
Angel shaped phalangoepiphyseal dysplasia 		0.310 GermlineCausalMutation disease ORPHANET Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations. 15173244 2004