Search Result |
Top |
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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |