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Summary Literature (0)
DOID:0111158 - SADDAN


Disease Ontology 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.

Synonyms: SADDAN dysplasia, severe achondroplasia with developmental delay and acanthosis nigricans,

Xenbase Genes : fgfr3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014658 - severe achondroplasia-developmental delay-acanthosis nigricans syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)