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Oculocutaneous Albinism Type 7 (MONDO:0014070)

Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.

Overview

Category

integumentary system disorder

Ontology ID

MONDO:0014070

Internal:15079

Synonyms

LRMDA oculocutaneous albinism

OCA7

oculocutaneous albinism caused by mutation in LRMDA

albinism, oculocutaneous, type 7

albinism, oculocutaneous, type VII

oculocutaneous albinism type VII

Mapped terms

DOID:0070100

GARD:0017531

MEDGEN:815116

OMIM:615179

Orphanet:352745

SCTID:722059002

UMLS:C3808786

Child terms

Unknown children.

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