PedAM
Pediatric Disease Annotations & Medicines
| Disease | renal tubular acidosis |
| Phenotype | C0029454|osteopetrosis |
| Sentences | 3 |
| PubMedID- 25720518 | The carbonic anhydrase ii (caii) deficiency syndrome is a rare autosomal recessive osteopetrosis with renal tubular acidosis (rta) and cerebral calcifications (mim259730). |
| PubMedID- 25873953 | In 1983, an autosomal recessive osteopetrosis syndrome associated with renal tubular acidosis was described [29]. |
| PubMedID- 24551774 | Recessive osteopetrosis with renal tubular acidosis (mim 259730) which accounts for a small proportion of patients with osteopetrosis, results from a mutation in the gene encoding carbonic anhydrase type ii (caii) and a defect in production of carbonic acid and proton (17). |
Page: 1