Oculocutaneous albinism. 2015

Roger A Goldberg, and David R Lally, and Jeffrey S Heier

UI MeSH Term Description Entries
D007499 Iris Diseases Diseases, dysfunctions, or disorders of or located in the iris. Disease, Iris,Diseases, Iris,Iris Disease
D007910 Lenses, Intraocular Artificial implanted lenses. Implantable Contact Lens,Lens, Intraocular,Contact Lens, Implantable,Intraocular Lens,Intraocular Lenses,Lens, Implantable Contact
D010857 Pigment Epithelium of Eye The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye. Eye Pigment Epithelium
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015877 Miosis Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA. Pupillary Miosis,Constricted Pupil,Miosis, Persistent,Small Pupil,Constricted Pupils,Mioses,Mioses, Persistent,Mioses, Pupillary,Miosis, Pupillary,Persistent Mioses,Persistent Miosis,Pupil, Constricted,Pupil, Small,Pupillary Mioses,Pupils, Constricted,Pupils, Small,Small Pupils
D016115 Albinism, Oculocutaneous Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. Albinism, Tyrosinase-Negative,Albinism, Tyrosinase-Positive,Albinism, Yellow-Mutant,Oculocutaneous Albinism,Yellow Mutant Albinism,Albinism, Tyrosinase Negative,Albinism, Tyrosinase Positive,Albinism, Yellow Mutant,Mutant Albinism, Yellow,Mutant Albinisms, Yellow,Tyrosinase-Negative Albinism,Tyrosinase-Positive Albinism,Yellow-Mutant Albinism
D017496 Hypopigmentation A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. Hypomelanosis,Hypomelanoses

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