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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


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Schnyder corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO
ISS		 ClinVar Annotator: match by term: Schnyder corneal dystrophy | ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:121800		 OMIM
ClinVar
CTD
MouseDO		 PMID:3486394 PMID:8190477 PMID:9450854 PMID:15034782 PMID:17668063 More... NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        corneal disease 235
          corneal dystrophy 52
            stromal dystrophy 13
              Schnyder corneal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              corneal disease 235
                corneal dystrophy 52
                  stromal dystrophy 13
                    Schnyder corneal dystrophy 1
paths to the root