|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes associated with the vitamin d-dependent rickets, type i phenotype from the curated OMIM Gene-Disease Associations dataset.
|CYP27B1||cytochrome P450, family 27, subfamily B, polypeptide 1|