autosomal recessive disease disorder of melanin metabolism oculocutaneous albinism https://github.com/monarch-initiative/mondo/issues/9097 https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism https://www.malacards.org/card/oculocutaneous_albinism icd11.foundation:1189424097 UMLS:C0078918 NCIT:C84941 OCA GARD:0010958 MESH:D016115 MEDGEN:36250 NANDO:1200637 SCTID:63844009 non-syndromic oculocutaneous albinism NORD:1522 DOID:0050632 Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. ICD10CM:E70.32 OMIMPS:203100 albinism, oculocutaneous NANDO:1200641 Orphanet:55 ICD9:270.2 NANDO:2200986 nonsyndromic oculocutaneous albinism MONDO:0018910 hypopigmentation of the skin hereditary skin disorder