About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory