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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:lacrimal duct obstruction
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Accession:DOID:13929 term browser browse the term
Definition:Interference with the secretion of tears by the lacrimal glands. Obstruction of the LACRIMAL SAC or NASOLACRIMAL DUCT causing acute or chronic inflammation of the lacrimal sac (DACRYOCYSTITIS). It is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. In adults occlusion may occur spontaneously or after injury or nasal disease. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p250)
Synonyms:exact_synonym: LCDD;   Lacrimal Duct Obstructions;   NASOLACRIMAL DUCT OBSTRUCTION;   Tear Duct Obstruction;   blocked lacrimal canaliculus;   lacrimal duct defect;   obstruction of lacrimal canaliculus;   obstruction of lacrimal ducts;   tear duct obstructions
 primary_id: MESH:D007767
 alt_id: OMIM:149700
 xref: NCI:C34757
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
lacrimal duct obstruction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Lacrimal duct defect
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24372406 PMID:25741868 NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645 		JBrowse link
ADULT syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
Lacrimal Puncta Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Lacrimal puncta, absence of ClinVar PMID:24372406 PMID:25741868 NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        lacrimal apparatus disease 149
          lacrimal duct obstruction 2
            ADULT syndrome 1
            Chitty Hall Baraitser Syndrome 0
            HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
            Lacrimal Puncta Agenesis 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              lacrimal apparatus disease 149
                lacrimal duct obstruction 2
                  ADULT syndrome 1
                  Chitty Hall Baraitser Syndrome 0
                  HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
                  Lacrimal Puncta Agenesis 1
paths to the root