Search Result

Top
1 to 1 of 1
Entry Name Description Category Pathway Gene
H01884 Auriculocondylar syndrome
Question mark ears syndrome
Auriculocondylar syndrome (ACS) is a rare craniofacial malformation syndrome characterized by mandibular hypoplasia and question-mark ears (QME). QMEs, consisting of a specific defect at the lobe-helix ... Congenital malformation (ARCND1) GNAI3 [HSA:2773] [KO:K04630]
(ARCND2A/2B) PLCB4 [HSA:5332] [KO:K05858]
(ARCND3/QME) EDN1 [HSA:1906] [KO:K16366]
(ARCND4) HDAC9 [HSA:9734] [KO:K11409]
1 to 1 of 1

[ KEGG | DISEASE | DRUG | MEDICUS ]