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frontometaphyseal dysplasia 1

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.
Uniprot Description An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects.
Mondo Term and Equivalent IDs
MONDO:0024550:  frontometaphyseal dysplasia 1
DOID:0111786: