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aplasia of lacrimal and salivary glands
Summary
- Synonym
-
- ALSG
- congenital absence of lacrimal puncta and salivary glands
- Definition
- A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111549
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
