osteodysplasty of Melnick and NeedlesMelnick-Needles osteodysplastyMNS
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
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 FLNA on chromosome Xq28.