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"

6 matching diseasesClear search ×

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

ORPHA:352737

Minimal pigment oculocutaneous albinism type 1

MP OCA type 1 · OCA1-MP

ORPHA:352734

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

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia

ORPHA:228379