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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:General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects.
Synonyms:exact_synonym: Sclera Diseases;   sclera disease;   scleral diseases
 primary_id: MESH:D015422
 alt_id: RDO:0001066
 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
ClinVar Annotator: match by OMIM:614170
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:8458232, PMID:21664999, PMID:22122778, PMID:26395458, PMID:28492532 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.