Frontometaphyseal dysplasia Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss. (Orphanet Rare Disease Ontology, Orphanet_1826)
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1 genes/proteins associated with the disease Frontometaphyseal dysplasia from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
FLNA filamin A, alpha 2.88009