mandibulofacial dysostosis with alopecia

Summary
Synonym
  • MFDA
Definition
A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
Super Class
syndrome
Disease Ontology
DOID:0060365
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1909 EDNRA endothelin receptor type A
Displaying 1 entry
Gene ID Gene Symbol Description Source
13617 Ednra endothelin receptor type A
Displaying 1 entry
Gene ID Gene Symbol Description Source
24326 Ednra endothelin receptor type A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024