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DOID:0111788 - Melnick-Needles syndrome
Disease Ontology Definition:An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28.
Synonyms: MNS, Melnick-Needles osteodysplasty, osteodysplasty of Melnick and Needles,
Xenbase Genes : flna
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee