Visualize Submit Comment
Metadata
ID DOID:0111549
Name aplasia of lacrimal 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 FGF10 on chromosome 5p12.
https://www.ncbi.nlm.nih.gov/pubmed/15654336
Xrefs

ICD9CM:750.21

MESH:C562407

OMIM:180920

ORDO:86815

SNOMEDCT_US_2020_03_01:715656004

UMLS_CUI:C0158667

Synonyms

ALSG [EXACT]

congenital absence of lacrimal puncta and salivary glands [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

Add an item to the term tracker