Phenotypes associated with the disease aplasia of lacrimal and salivary glands (OMIM:180920):
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: IEA. (OMIM:180920)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: IEA. (OMIM:180920)
- Absent lacrimal punctum (HP:0001092): No identifiable superior and/or inferior lacrimal punctum. Evidence: IEA. (OMIM:180920)
- Lacrimal gland hypoplasia (HP:0007732): Underdevelopment of the lacrimal gland. Evidence: IEA. (OMIM:180920)
- Lacrimal gland aplasia (HP:0007656): A congenital defect of development characterized by absence of the lacrimal gland. Evidence: IEA. (OMIM:180920)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:180920)