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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/12612583, https://www.ncbi.nlm.nih.gov/pubmed/15523633
Xrefs

OMIM:305620

Synonyms

FMD1 [EXACT]

Parent Relationships

is_a frontometaphyseal dysplasia

is_a X-linked recessive disease

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