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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 16909
    sensory system disease 5238
      eye disease 2637
        corneal disease 198
          corneal dystrophy 45
            Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            Hereditary Eye Diseases 600
              corneal dystrophy 45
                Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
paths to the root