Oculocutaneous albinism type 4

Definition

Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.

Also known as OCA4, oculocutaneous albinism caused by mutation in SLC45A2, SLC45A2 oculocutaneous albinism — per MONDO

Also identified as

• DOID 0070098 per MONDO
• MESH C564696 per MONDO
• OMIM 606574 per MONDO
• Orphanet 79435 per MONDO
• SCTID 715632003 per MONDO
• UMLS C1847836 per MONDO