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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:congenital stromal corneal dystrophy
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Accession:DOID:0060445 term browser browse the term
Definition:A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. (DO)
Synonyms:exact_synonym: CSCD;   congenital hereditary stromal dystrophy;   congenital hereditary stromal dystrophy of the cornea;   congenital stromal dystrophy of the cornea;   decorin-associated congenital stromal corneal dystrophy;   dystrophia corneae parenchymatosa congenita
 primary_id: MESH:C566452
 alt_id: OMIM:610048
 xref: ORDO:101068
For additional species annotation, visit the Alliance of Genome Resources.



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congenital stromal corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcn decorin ISO ClinVar Annotator: match by term: Congenital stromal corneal dystrophy OMIM
ClinVar
PMID:5304426 PMID:11805522 PMID:15671264 PMID:16935612 PMID:21993463 More... NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital stromal corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            Hereditary Eye Diseases 758
              corneal dystrophy 51
                stromal dystrophy 13
                  congenital stromal corneal dystrophy 1
paths to the root