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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:familial febrile seizures 4
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Accession:DOID:0111305 term browser browse the term
Definition:A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. (DO)
Synonyms:exact_synonym: FEB4;   familial febrile convulsions 4
 broad_synonym: ADGRV1-RELATED CONDITION;   ADGRV1-RELATED DISORDER
 primary_id: MESH:C565788
 alt_id: OMIM:604352


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familial febrile seizures 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 4 | ClinVar Annotator: match by term: Febrile seizures, familial, 4 OMIM
ClinVar		 PMID:12402266 PMID:14740321 PMID:15671307 PMID:16199547 PMID:18414213 More... NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            epilepsy 2800
              Febrile Seizures 54
                familial febrile seizures 7
                  familial febrile seizures 4 1
paths to the root