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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:0014658 - severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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),
syndrome (is_a)