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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"
Minimal pigment oculocutaneous albinism type 1
MP OCA type 1 · OCA1-MP
Oculocutaneous albinism type 1
OCA1
Oculocutaneous albinism type 1A
OCA1A · Tyrosinase-negative oculocutaneous albinism
Oculocutaneous albinism type 1B
OCA1B · Oculocutaneous albinism, Amish type
Temperature-sensitive oculocutaneous albinism type 1
OCA1-TS · TS OCA type 1