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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:Pseudoinflammatory Fundus Dystrophy, Finnish Type
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Accession:DOID:9003601 term browser browse the term
Synonyms:exact_synonym: Fundus dystrophy, pseudoinflammatory recessive form;   PFD, Finnish type;   PFD, Lavia type;   Pseudoinflammatory fundus dystrophy;   Pseudoinflammatory fundus dystrophy, Lavia type
 primary_id: MESH:C535828
 alt_id: OMIM:264420


show annotations for term's descendants           Sort by:
Pseudoinflammatory Fundus Dystrophy, Finnish Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form ClinVar PMID:25741868 PMID:28492532 NCBI chr10:30,475,134...30,927,758
Ensembl chr10:30,482,870...30,923,257 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form ClinVar PMID:25741868 PMID:28492532 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      eye disease 3365
        fundus dystrophy 698
          Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            eye disease 3365
              retinal disease 1183
                retinal degeneration 828
                  fundus dystrophy 698
                    Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
paths to the root