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 |
UMLS_CUI:C0158667 ICD9CM:750.21 SNOMEDCT_US_2023_03_01:715656004 OMIM:180920 MESH:C562407 ORDO:86815 |
|
| 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 |