Rare Disease Library

Autosomal recessive distal renal tubular acidosis without deafness

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

Autosomal dominant distal renal tubular acidosis

AD dRTA

Autosomal dominant proximal renal tubular acidosis

AD pRTA

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

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 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

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive isolated neurosensory hearing loss type DFNB · Autosomal recessive isolated neurosensory deafness type DFNB