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"

2 matching diseasesClear search ×

Pituitary resistance to thyroid hormone

PRTH · Selective pituitary resistance to thyroid hormone

ORPHA:165994

Proximal renal tubular acidosis

Renal tubular acidosis type 2 · pRTA

ORPHA:47159