Visualize Submit Comment

Metadata
ID	DOID:0111786
Name	frontometaphyseal dysplasia 1
Definition	A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/15523633, https://www.ncbi.nlm.nih.gov/pubmed/12612583
Xrefs	MIM:305620
Synonyms	FMD1 [EXACT]
Parent Relationships	is_a frontometaphyseal dysplasia is_a X-linked recessive disease
Subclass Logical Relationships	has material basis in some X-linked recessive inheritance