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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;   Pseudoinflammatory fundus dystrophy;   Pseudoinflammatory fundus dystrophy, Lavia type
 primary_id: MESH:C535828;   RDO:0001152
For additional species annotation, visit the Alliance of Genome Resources.


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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: Pseudoinflammatory fundus dystrophy ClinVar PMID:25741868 NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Pseudoinflammatory fundus dystrophy ClinVar PMID:25741868 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        corneal disease 189
          corneal dystrophy 44
            Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            Hereditary Eye Diseases 580
              corneal dystrophy 44
                Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.