Preferred Label : Vitamin D 25-Hydroxylase Deficiency;
NCIt synonyms : Vitam D Hydroxylation-Deficient Rickets Type 1b;
NCIt related terms : Vitamin D Hydroxylation-deficient Rickets Type 1b;
Alternative definition : NICHD: An autosomal recessive form of rickets caused by inactivating mutation(s) in
the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts
vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol).
The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin
D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated
serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and
rickets.;
Origin ID : C131074;
UMLS CUI : C1838657;
Currated CISMeF NLP mapping
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_normal_tissue_origin
- disease_has_primary_anatomic_site
- disease_mapped_to_gene
