Human Disease Ontology

Last uploaded: March 3, 2025
Id http://purl.obolibrary.org/obo/DOID_0111788
http://purl.obolibrary.org/obo/DOID_0111788
Preferred Name

Melnick-Needles syndrome

Definitions
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
Melnick-Needles osteodysplasty
osteodysplasty of Melnick and Needles
MNS
Type http://www.w3.org/2002/07/owl#Class
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