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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease osteopetrosis
Comorbidity C0001126|renal tubular acidosis
Sentences 2
PubMedID- 25873953 In 1983, an autosomal recessive osteopetrosis syndrome associated with renal tubular acidosis was described [29].
PubMedID- 25720518 The carbonic anhydrase ii (caii) deficiency syndrome is a rare autosomal recessive osteopetrosis with renal tubular acidosis (rta) and cerebral calcifications (mim259730).

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