tyrosinase-positive oculocutaneous albinism

tyrosinase-positive oculocutaneous albinism
oculocutaneous a. type 2.

Medical dictionary. 2011.

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  • oculocutaneous albinism — (OCA) albinism characterized by partial or total absence of melanin from the melanocytes of the skin, hair, and eyes, with additional ocular defects including hypoplastic fovea, photophobia, nystagmus, and decreased visual acuity. There are a… …   Medical dictionary

  • Albinism — Albino redirects here. For other uses, see Albino (disambiguation). Albinism Classification and external resources A black child with albinism ICD 10 …   Wikipedia

  • Albinism — Partial or total lack of the pigment melanin in the skin, hair and iris. The word albino is Portuguese and comes from the Latin albus for white. * * * A group of inherited (usually autosomal recessive) disorders with deficiency or absence of… …   Medical dictionary

  • Ocular albinism type 1 — Classification and external resources ICD 10 E70.3 OMIM 300500 DiseasesDB …   Wikipedia

  • brown albinism — brown oculocutaneous albinism a phenotypic variant of oculocutaneous albinism type 2 seen in persons from normally dark skinned groups; pigmentation is deficient but not absent and photophobia is less severe than in other tyrosinase positive… …   Medical dictionary

  • OCA2 — Oculocutaneous albinism II Identifiers Symbols OCA2; BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1 External IDs …   Wikipedia

  • List of diseases (O) — A list of diseases in the English wikipedia.O Ob* O Doherty syndrome * O Donnell Pappas syndrome * Obesity * Obesophobia * Obsessive compulsive disorder * Obstructive asymmetric septal hypertrophy * Obstructive sleep apneaOcOcc Och* Occipital… …   Wikipedia

  • TYRP1 — Tyrosinase related protein 1, also known as TYRP1, is a human gene.cite web | title = Entrez Gene: TYRP1 tyrosinase related protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=7306| accessdate = ] PBB …   Wikipedia

  • Albinismus — Klassifikation nach ICD 10 E70.3 Albinismus …   Deutsch Wikipedia

  • Okulokutaner Albinismus Typ 4 — Der Okulokutane Albinismus Typ 4 (OCA 4) ist eine Form des Albinismus, die zu aufgehellter Haut und Haarfarbe aufgrund einer Mutation des MATP Gens führt. Weitere Namen des Gens sind: underwhite (uw), dominant brown (Dbr), B/AIM 1 like protein,… …   Deutsch Wikipedia

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