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"

51 matching diseasesClear search ×

Transaldolase deficiency

TALDO deficiency

ORPHA:101028

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

ORPHA:488618

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

ORPHA:28378

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