DISEASES

Disease-gene associations mined from literature

Human genes for SADDAN

SADDAN [DOID:0111158]

A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.

Synonyms:  SADDAN,  DOID:0111158,  SADDANs,  SADDAN dysplasia,  severe achondroplasia with developmental delay and acanthosis nigricans ...