Melnick-Needles syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: flna

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): X-linked monogenic disease (is_a), otopalatodigital syndrome spectrum disorder (is_a)