Oculocutaneous albinism type 1B

Definition

Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.

Also known as albinism, Yellow mutant type, OCA1B, oculocutaneous albinism, Amish type, platinum oculocutaneous albinism, Yellow oculocutaneous albinism — per MONDO

Also identified as

• DOID 0070095 per MONDO
• MESH C537729 per MONDO
• OMIM 606952 per MONDO
• Orphanet 79434 per MONDO
• UMLS C1847024 per MONDO