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aplasia of lacrimal and salivary glands

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
Uniprot Description A rare condition characterized by dry conjunctival mucosae, irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta.
Mondo Term and Equivalent IDs
MONDO:0008397:  aplasia of lacrimal and salivary glands
DOID:0111549: 
Orphanet:86815: 
SCTID:715656004: