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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:enophthalmos
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Accession:DOID:11175 term browser browse the term
Definition:Recession of the eyeball into the orbit.
Synonyms:primary_id: MESH:D015841
 xref: ICD10CM:H05.4;   ICD9CM:376.5;   NCI:C79552
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
enophthalmos term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Enophthalmos ClinVar PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 PMID:35571680 NCBI chrNW_004955437:210,541...215,725
Ensembl chrNW_004955437:210,838...219,694 		JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Enophthalmos ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 More... NCBI chrNW_004955407:36,456,628...36,588,940
Ensembl chrNW_004955407:36,453,098...36,589,382 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Enophthalmos ClinVar PMID:25741868 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499 		JBrowse link
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Enophthalmos ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chrNW_004955456:8,773,917...8,782,427 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    sensory system disease 6556
      eye disease 3392
        orbital disease 92
          enophthalmos 4
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14030
      nervous system disease 12349
        Neurologic Manifestations 9209
          sensory system disease 6556
            eye disease 3392
              eye adnexa disease 92
                orbital disease 92
                  enophthalmos 4
paths to the root