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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:Keratitis Fugax Hereditaria
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Accession:DOID:9008610 term browser browse the term
Synonyms:exact_synonym: Keratoendotheliitis Fugax Hereditaria
 primary_id: MESH:C563650
 alt_id: OMIM:148200
For additional species annotation, visit the Alliance of Genome Resources.


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Keratitis Fugax Hereditaria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: KERATOENDOTHELIITIS FUGAX HEREDITARIA | ClinVar Annotator: match by term: Keratitis fugax hereditaria OMIM
ClinVar		 PMID:3604606 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29366613 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    sensory system disease 7131
      eye disease 3308
        corneal disease 213
          keratitis 67
            Keratitis Fugax Hereditaria 1
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      nervous system disease 14106
        Neurologic Manifestations 10111
          sensory system disease 7131
            eye disease 3308
              corneal disease 213
                keratitis 67
                  Keratitis Fugax Hereditaria 1
paths to the root