| 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 the FGF10 gene on chromosome 5p12. https://www.ncbi.nlm.nih.gov/pubmed/15654336 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715656004 |
| Subsets |
DO_rare_slim |
| Synonyms |
ALSG [EXACT] congenital absence of lacrimal puncta and salivary glands [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |