|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes associated with the Osteopetrosis with renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|CA2||carbonic anhydrase II|