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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:aplasia of lacrimal and salivary glands
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Accession:DOID:0111549 term browser browse the term
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 FGF10 on chromosome 5p12. (DO)
Synonyms:exact_synonym: ALSG;   congenital absence of lacrimal puncta and salivary glands
 narrow_synonym: absence of salivary glands;   parotid aplasia or hypoplasia
 primary_id: MESH:C562407
 alt_id: OMIM:180920
 xref: ICD9CM:750.21;   ORDO:86815
For additional species annotation, visit the Alliance of Genome Resources.


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aplasia of lacrimal and salivary glands term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by OMIM:180920
ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands
OMIM
ClinVar
PMID:15654336 PMID:16630169 PMID:17213838 PMID:25741868 PMID:28492532 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      aplasia of lacrimal and salivary glands 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal dominant disease 3749
                aplasia of lacrimal and salivary glands 1
paths to the root