Hypophosphatemic rickets, autosomal recessive, 2

Definition

Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.

Also known as autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1, Autosomal Recessive Hypophosphatemic Rickets Type 2, ENPP1 autosomal recessive hypophosphatemic rickets, hypophosphatemic rickets, autosomal recessive, 2, hypophosphatemic rickets, autosomal recessive, type 2 — per MONDO

Also identified as

• MESH C567647 per MONDO
• OMIM 613312 per MONDO
• UMLS C2750078 per MONDO