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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:FINCA Syndrome
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Accession:DOID:9008399 term browser browse the term
Synonyms:exact_synonym: FINCA;   fibrosis, neurodegeneration, and cerebral angiomatosis
 primary_id: OMIM:618278



show annotations for term's descendants           Sort by:
FINCA Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhlrc2 NHL repeat containing 2 ISO ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis OMIM
ClinVar
PMID:25741868 PMID:29423877 PMID:30138417 PMID:30239752 PMID:32435055 More... NCBI chr 1:255,589,743...255,648,904
Ensembl chr 1:255,589,742...255,651,408
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      nervous system disease 14045
        neurodegenerative disease 4872
          FINCA Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      nervous system disease 14045
        central nervous system disease 12381
          neurodegenerative disease 4872
            FINCA Syndrome 1
paths to the root