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vitamin D-dependent rickets, type 2A
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.
Uniprot Description A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets.
Mondo Term and Equivalent IDs
MONDO:0010186: vitamin D-dependent rickets, type 2A
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
NCIT:C131075
OMIM:277440
SCTID:237894002
UMLS:C0342646
MONDO:0010186
High level summary of knowledge for a disease, including descriptions and datasource references.