Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Melnick-Needles syndrome
Summary
- Synonym
-
- MNS
- Melnick-Needles osteodysplasty
- osteodysplasty of Melnick and Needles
- 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.
- Super Class
- X-linked monogenic disease otopalatodigital syndrome spectrum disorder
External Links
- Disease Ontology
- DOID:0111788
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
