Preferred Label : Vitamin D Dependent Rickets 2;
NCIt related terms : Hereditary 1,25 Dihydroxyvitamin D-resistant Rickets with Abnormal Vitamin D Receptor; VDDR2; Vitamin D Receptor Deficiency;
NCIt definition : An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding
the vitamin D receptor. The condition is characterized by hypocalcemia, increased
concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets and
alopecia.;
Alternative definition : NICHD: An autosomal recessive form of rickets caused by mutation(s) in the VDR gene,
encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased
concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets,
and alopecia.;
NCI Metathesaurus CUI : CL514185;
Origin ID : C131077;
UMLS CUI : C4331504;
Automatic exact mappings (from CISMeF team)
- Has associated anatomic sites
- Semantic type(s)
- concept_is_in_subset
- disease_has_normal_tissue_origin
- disease_has_primary_anatomic_site
- related_to_genetic_biomarker
