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ENMandibulofacial Dysostosis with Alopecia (MFDA)
Alias:
Mfda
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Mandibulofacial Dysostosis with Alopecia, also known as mfda, is related to treacher collins syndrome 1 and dysostosis. An important gene associated with Mandibulofacial Dysostosis with Alopecia is EDNRA (Endothelin Receptor Type A), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include bone and skin, and related phenotypes are alopecia and conductive hearing impairment
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MALACARDS
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