Oculocutaneous albinism type 1A (Q65037): Difference between revisions

@@ description / pt-br / description / pt-br @@
+O OCA-1 é causado por mutação no gene da tirosinase (TYR). OCA-1A é devido à ausência completa de tirosinase e é um fenótipo clínico mais grave do que OCA-1B.
@@ description / en / description / en @@
+OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1168847652
@@ Property / Canonical URI: https://id.who.int/icd/entity/1168847652 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_1168847652
@@ Property / CURIE: CID11:ID_1168847652 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_1168847652
@@ Property / Canary Token: dki-india-ID_1168847652 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest revision as of 12:45, 14 August 2026

OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B.

Language	Label	Description	Also known as
default for all languages	ID_1168847652
English	Oculocutaneous albinism type 1A	OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B.