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Vitamin D Hydroxylation-Deficient Rickets, Type 1A MeSH Supplementary Concept Data 2024


MeSH Supplementary
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Unique ID
C562688
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C562688
Entry Term(s)
1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective
1-Alpha-Hydroxylase Deficiency
25-Hydroxycholecalciferol-1-Hydroxylase Deficiency
PDDR1A
Pseudovitamin D-Deficiency Rickets, Type IA
VDDR1A
Vitamin D Dependency, Type 1
Vitamin D-Dependent Rickets, Type 1A
Registry Number
0
Previous Indexing
*Metabolism, Inborn Errors (2013)
*Rickets (2013)
Heading Mapped to
*Familial Hypophosphatemic Rickets
Frequency
21
Note
PROM mutation in CYP27B1 gene
Date of Entry
2012/11/05
Revision Date
2013/10/24
Vitamin D Hydroxylation-Deficient Rickets, Type 1A Preferred
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