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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:ectropion
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Accession:DOID:1570 term browser browse the term
Definition:The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)
Synonyms:exact_synonym: Ectropion of eyelid;   Ectropions;   Everted margin
 primary_id: MESH:D004483;   RDO:0001668
 xref: ICD10CM:H02.1;   ICD9CM:374.1
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:8033105 PMID:24033266 PMID:25741868 PMID:25980754 PMID:26123647 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar
OMIM
PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        eyelid disease 91
          ectropion 2
            Jagell Holmgren Hofer Syndrome 0
            blepharocheilodontic syndrome + 2
            cicatricial ectropion 0
            mechanical ectropion 0
            senile ectropion 0
            spastic ectropion 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            eyelid disease 91
              ectropion 2
                Jagell Holmgren Hofer Syndrome 0
                blepharocheilodontic syndrome + 2
                cicatricial ectropion 0
                mechanical ectropion 0
                senile ectropion 0
                spastic ectropion 0
paths to the root