loading...| Preferred Name |
aplasia of lacrimal and salivary glands |
| Synonyms |
congenital absence of lacrimal puncta and salivary glands |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111549 |
| database_cross_reference |
ICD9CM:750.21 OMIM:180920 SNOMEDCT_US_2022_09_01:715656004 MESH:C562407 ORDO:86815 UMLS_CUI:C0158667 |
| 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. |
| has exact synonym |
congenital absence of lacrimal puncta and salivary glands ALSG |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111549 |
| in_subset | |
| label |
aplasia of lacrimal and salivary glands |
| notation |
DOID:0111549 |
| prefLabel |
aplasia of lacrimal and salivary glands |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C562407 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/180920 | Online Mendelian Inheritance in Man | LOOM |