OBO ID: DOID:0111788
Term Name: Melnick-Needles syndrome Search Ontology:
Synonyms:
  • Melnick-Needles osteodysplasty
  • MNS
  • 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. (3)
References:
Ontology: Human Disease   ( DOID:0111788 )
Relationships
is a type of:
OTHER Melnick-Needles syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FLNA Melnick-Needles syndrome 309350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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