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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
For additional species annotation, visit the Alliance of Genome Resources.


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FINCA Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHLRC2 NHL repeat containing 2 ISO OMIM NCBI chr10:110,453,717...110,516,215
Ensembl chr10:113,886,444...113,940,323
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10088
        neurodegenerative disease 2996
          FINCA Syndrome 1
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10088
        central nervous system disease 8519
          neurodegenerative disease 2996
            FINCA Syndrome 1
paths to the root