Rare Disease Library

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

Autosomal dominant distal renal tubular acidosis

AD dRTA

Autosomal dominant proximal renal tubular acidosis

AD pRTA

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Autosomal recessive distal renal tubular acidosis without deafness

Distal renal tubular acidosis type 1c · dRTA type 1c

Autosomal recessive proximal renal tubular acidosis

AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

Distal renal tubular acidosis with anemia

dRTA with anemia

Drug-related renal tubular dysgenesis

Primary renal tubular acidosis

Proximal renal tubular acidosis

Renal tubular acidosis type 2 · pRTA

Renal tubular dysgenesis

Primitive renal tubule syndrome · Renotubular dysgenesis