Vitamin D Hydroxylation-Deficient Rickets, Type 1A [Supplementary Concept]

PROM mutation in CYP27B1 gene

Date introduced: November 5, 2012

MeSH Unique ID: C562688

Heading Mapped to:

• Familial Hypophosphatemic Rickets

Entry Terms:

• 1-Alpha-Hydroxylase Deficiency
• 25-Hydroxycholecalciferol-1-Hydroxylase Deficiency
• PDDR1A
• Pseudovitamin D-Deficiency Rickets, Type IA
• VDDR1A
• Vitamin D Dependency, Type 1
• 1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective
• Vitamin D-Dependent Rickets, Type 1A

Previous Indexing:

• Metabolism, Inborn Errors (2013)
• Rickets (2013)