X-linked spondyloepimetaphyseal dysplasia

Definition

X-linked form of spondyloepimetaphyseal dysplasia.

Also known as spondyloepimetaphyseal dysplasia, X-linked, spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive — per MONDO

Also identified as

• DOID 0112150 per MONDO
• MESH C564714 per MONDO
• OMIM 300106 per MONDO
• Orphanet 93349 per MONDO
• UMLS C1848097 per MONDO