Waardenburg-Shah syndrome (Q46722): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Nesta síndrome, o fenótipo inclui não apenas as características clássicas da síndrome de Waardenburg, mas também a doença de Hirschsprung. Pode ser causada por mutações nos genes SOX10, EDN3 ou EDNRB.
@@ description / en / description / en @@
+In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1420151003
@@ Property / Canonical URI: https://id.who.int/icd/entity/1420151003 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:LD2H.3
@@ Property / CURIE: CID11:LD2H.3 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-LD2H.3
@@ Property / Canary Token: dki-india-LD2H.3 / 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
@@ Property / Linked ICD 10 @@
+FLAVIA MARIA DOS SANTOS BERGAMI
@@ Property / Linked ICD 10: FLAVIA MARIA DOS SANTOS BERGAMI / rank @@
+Normal rank

Latest revision as of 15:30, 13 August 2026

In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes.

Language	Label	Description	Also known as
default for all languages	LD2H.3
English	Waardenburg-Shah syndrome	In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes.