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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:Schnyder corneal dystrophy
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Accession:DOID:0060456 term browser browse the term
Definition:A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: SCCD;   Schnyder crystalline corneal dystrophy;   corneal dystrophy crystalline of Schnyder;   crystalline stromal dystrophy;   hereditary crystalline stromal dystrophy of Schnyder
 primary_id: MESH:C535475
 alt_id: OMIM:121800
 xref: GARD:9277;   ORDO:98967
For additional species annotation, visit the Alliance of Genome Resources.


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Schnyder corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy ClinVar NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by OMIM:121800
ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy
OMIM
ClinVar
PMID:3486394 PMID:8190477 PMID:9450854 PMID:15034782 PMID:17668063 PMID:17962451 PMID:18176953 PMID:20505825 PMID:23169578 PMID:23564352 NCBI chr 5:165,247,630...165,259,228
Ensembl chr 5:165,247,133...165,259,224
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        corneal disease 196
          corneal dystrophy 45
            stromal dystrophy 5
              Schnyder corneal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            corneal disease 196
              corneal dystrophy 45
                stromal dystrophy 5
                  Schnyder corneal dystrophy 2
paths to the root