OBO ID: DOID:0111786
Term Name: frontometaphyseal dysplasia 1 Search Ontology:
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 frontometaphyseal dysplasia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FLNA Frontometaphyseal dysplasia 1 305620
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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