SADDAN (DOID:0111158)
Alliance: disease page
Synonyms: SADDAN dysplasia; severe achondroplasia with developmental delay and acanthosis nigricans
Alt IDs: OMIM:616482, MESH:D000130, ORDO:85165, UMLS_CUI:C2674173
Definition: 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.