aplasia of lacrimal and salivary glands

Term ID

DOID:0111549

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/15654336

References

• ICD9CM:750.21
• MESH:C562407
• MIM:180920
• ORDO:86815
• SNOMEDCT_US_2023_03_01:715656004
• UMLS_CUI:C0158667

Ontology

Human Disease   ( DOID:0111549 )