| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. (Orphanet Rare Disease Ontology, Orphanet_2785) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C536058 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Osteopetrosis with renal tubular acidosis from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| CA2 | carbonic anhydrase II | 2.88009 |
