Search Ontology:
Human Disease

frontometaphyseal dysplasia 1

Term ID
DOID:0111786
Synonyms
  • FMD1
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. (2)
References
Ontology
Human Disease   ( DOID:0111786 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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