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| Term | aplasia of lacrimal and salivary glands | ID (Ontology) | DOID:0111549 (Human Disease) |
| 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. | ||
| Also Known As | "ALSG" ; "congenital absence of lacrimal puncta and salivary glands" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| aplasia of lacrimal and salivary glands 1 rec. |
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autosomal dominant disease syndrome |
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ICD9CM:750.21 MESH:C562407 MIM:180920 ORDO:86815 SNOMEDCT_US_2023_03_01:715656004 UMLS_CUI:C0158667 |
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