Term Name: SADDAN
Synonyms: SADDAN dysplasia, severe achondroplasia with developmental delay and acanthosis nigricans
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.
Ontology: Human Disease [DOID:0111158]   ( DOID:0111158 )

Relationships
is a type of: autosomal dominant disease syndrome