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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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stromal corneal dystrophy		 OMIM
CTD
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    physical disorder 4895
      congenital stromal corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 21122
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10746
        Neurologic Manifestations 9984
          sensory system disease 6884
            eye disease 3446
              Hereditary Eye Diseases 1068
                corneal dystrophy 51
                  stromal dystrophy 13
                    congenital stromal corneal dystrophy 1
paths to the root