Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:aplasia of lacrimal and salivary glands
go back to main search page
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: ORDO:86815
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
aplasia of lacrimal and salivary glands term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      aplasia of lacrimal and salivary glands 1
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            autosomal genetic disease 3968
              autosomal dominant disease 2417
                aplasia of lacrimal and salivary glands 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.