Hypophosphatemic rickets, X-linked recessive

Definition

Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.

Also known as CLCN5 X-linked hypophosphatemic rickets, hypophosphatemic rickets, X-linked recessive, X-linked hypophosphatemic rickets caused by mutation in CLCN5 — per MONDO

Also identified as

• DOID 0080353 per MONDO
• OMIM 300554 per MONDO
• UMLS C1845168 per MONDO