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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01884 |
Auriculocondylar syndrome Question mark ears syndrome |
... indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular portion of the first pharyngeal arch. Mutations in the PLCB4 and ... | 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] |
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| H02126 | Mandibulofacial dysostosis with alopecia | Mandibulofacial dysostosis with alopecia (MFDA) is a syndrome caused by de novo missense substitutions in EDNRA gene. The mandibulofacial dysostoses (MFDs) are characterized by malar and mandibular hypoplasia ... | Congenital malformation | EDNRA [HSA:1909] [KO:K04197] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |