vitamin d-dependent rickets, type i Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia. (Orphanet Rare Disease Ontology, Orphanet_289157)
External Link
Similar Terms
Downloads & Tools


1 genes associated with the vitamin d-dependent rickets, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1