Term Name: | SADDAN |
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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 ) |