Frontometaphyseal dysplasia 1

Definition

Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.

Also known as FLNA frontometaphyseal dysplasia, frontometaphyseal dysplasia 1, X-linked recessive, frontometaphyseal dysplasia caused by mutation in FLNA — per MONDO

Also identified as

• DOID 0111786 per MONDO
• OMIM 305620 per MONDO
• UMLS C4281559 per MONDO