| 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 | http://www.omim.org/entry/264700 |
| 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 |
