|
DOID:0111158 - SADDAN
Disease Ontology Definition:An autosomal dominant disease 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,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)