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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:scleral disease
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Accession:DOID:11343 term browser browse the term
Definition:An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. (DO)
Synonyms:exact_synonym: sclera disease;   sclera diseases;   scleral diseases
 primary_id: MESH:D015422
 xref: ICD10CM:H15;   NCI:C79717
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
brittle cornea syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More... NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
scleritis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnf tumor necrosis factor ISO RGD PMID:23177360 RGD:7394776 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6960
      eye disease 3490
        scleral disease 2
          Daentl Towsend Siegel Syndrome 0
          brittle cornea syndrome 2 1
          episcleritis periodica fugax 0
          nodular episcleritis 0
          osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 0
          scleral staphyloma + 0
          scleritis + 1
          scleromalacia perforans 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        Neurologic Manifestations 10052
          sensory system disease 6960
            eye disease 3490
              scleral disease 2
                Daentl Towsend Siegel Syndrome 0
                brittle cornea syndrome 2 1
                episcleritis periodica fugax 0
                nodular episcleritis 0
                osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 0
                scleral staphyloma + 0
                scleritis + 1
                scleromalacia perforans 0
paths to the root