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"

15 matching diseasesClear search ×

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

ORPHA:28378

Oculocutaneous albinism

OCA

ORPHA:55

Oculocutaneous albinism type 1

OCA1

ORPHA:352731

Oculocutaneous albinism type 1A

OCA1A · Tyrosinase-negative oculocutaneous albinism

ORPHA:79431

Oculocutaneous albinism type 1B

OCA1B · Oculocutaneous albinism, Amish type

ORPHA:79434

Oculocutaneous albinism type 2

OCA2

ORPHA:79432

Oculocutaneous albinism type 3

OCA3 · Red oculocutaneous albinism

ORPHA:79433

Oculocutaneous albinism type 4

OCA4

ORPHA:79435

Oculocutaneous albinism type 5

OCA5

ORPHA:370091

Oculocutaneous albinism type 6

OCA6

ORPHA:370097

Oculocutaneous albinism type 7

OCA7

ORPHA:352745

Oculocutaneous albinism type 8

OCA8

ORPHA:597733

Oculocutaneous or ocular albinism

ORPHA:98706

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

ORPHA:882

Tyrosinemia type 3

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

ORPHA:69723