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DO Term : aplasia of lacrimal and salivary glands [DOID:0111549] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:715656004,
  • congenital absence of lacrimal puncta and salivary glands,
  • ICD9CM:750.21,
  • ALSG,
  • ORDO:86815,
  • 180920,
  • UMLS_CUI:C0158667,
  • MESH:C562407,
  • OMIM:180920
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