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"

55 matching diseasesClear search ×

Transaldolase deficiency

TALDO deficiency

ORPHA:101028

Transketolase deficiency

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

ORPHA:488618

Trehalase deficiency

Isolated trehalose intolerance

ORPHA:103909

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

ORPHA:882

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

ORPHA:28378

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency

ORPHA:69723

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601