You are using an outdated browser. Please upgrade your browser to improve your experience.

mandibulofacial dysostosis with alopecia

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
Uniprot Description A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility.
Disease Ontology Description A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
Mondo Term and Equivalent IDs
MONDO:0014608:  mandibulofacial dysostosis with alopecia
Orphanet:443995: 
UMLS:C4225349: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)