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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:Primary Congenital Glaucoma 3, E
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Accession:DOID:9005164 term browser browse the term
Synonyms:exact_synonym: GLC3E;   primary congenital glaucoma-3E
 broad_synonym: TEK-RELATED CONDITION
 primary_id: OMIM:617272


show annotations for term's descendants           Sort by:
Primary Congenital Glaucoma 3, E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E | ClinVar Annotator: match by term: TEK-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27270174 PMID:28492532 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      primary congenital glaucoma 13
        Primary Congenital Glaucoma 3, E 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              ocular hypertension 186
                glaucoma 170
                  primary congenital glaucoma 13
                    Primary Congenital Glaucoma 3, E 1
paths to the root