Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

4 matching diseasesClear search ×

Autosomal dominant proximal renal tubular acidosis

AD pRTA

ORPHA:314889

Autosomal dominant distal renal tubular acidosis

AD dRTA

ORPHA:93608

Autosomal recessive proximal renal tubular acidosis

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

ORPHA:93607

Proximal renal tubular acidosis

Renal tubular acidosis type 2 · pRTA

ORPHA:47159