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Disease Ontology Browser
Melnick-Needles syndrome (DOID:0111788)
Alliance: disease page
Synonyms: Melnick-Needles osteodysplasty; MNS; osteodysplasty of Melnick and Needles
Alt IDs: OMIM:309350, MESH:D010009, ORDO:1826, UMLS_CUI:C0025237
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory