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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 Hidradenitis Suppurativa
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Accession:DOID:9008895 term browser browse the term
Synonyms:exact_synonym: familial acne inversa
 primary_id: MESH:C538118

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Familial Hidradenitis Suppurativa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncstn nicastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chrNW_004936740:285,789...301,918
Ensembl chrNW_004936740:285,657...302,111 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chrNW_004936488:2,464,623...2,528,807
Ensembl chrNW_004936488:2,464,527...2,530,065 		JBrowse link
G Psenen presenilin enhancer, gamma-secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chrNW_004936570:576,722...578,022
Ensembl chrNW_004936570:576,722...578,010 		JBrowse link
Familial Acne Inversa 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20929727 PMID:21412258 PMID:22358060 More... NCBI chrNW_004936740:285,789...301,918
Ensembl chrNW_004936740:285,657...302,111 		JBrowse link
Familial Acne Inversa 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psenen presenilin enhancer, gamma-secretase subunit ISO ClinVar Annotator: match by term: Acne inversa, familial, 2 OMIM
ClinVar		 PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 More... NCBI chrNW_004936570:576,722...578,022
Ensembl chrNW_004936570:576,722...578,010 		JBrowse link
Familial Acne Inversa 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Acne inversa, familial, 3 OMIM
ClinVar		 PMID:7596406 PMID:7623585 PMID:7651536 PMID:8538334 PMID:8634712 More... NCBI chrNW_004936488:2,464,623...2,528,807
Ensembl chrNW_004936488:2,464,527...2,530,065 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    sensory system disease 6694
      skin disease 3924
        sweat gland disease 143
          hidradenitis 11
            hidradenitis suppurativa 11
              Familial Hidradenitis Suppurativa 3
                Familial Acne Inversa 1 1
                Familial Acne Inversa 2 1
                Familial Acne Inversa 3 1
Path 2
Term Annotations click to browse term
  disease 14637
    disease of anatomical entity 14326
      nervous system disease 12613
        Neurologic Manifestations 9432
          sensory system disease 6694
            skin disease 3924
              sweat gland disease 143
                hidradenitis 11
                  hidradenitis suppurativa 11
                    Familial Hidradenitis Suppurativa 3
                      Familial Acne Inversa 1 1
                      Familial Acne Inversa 2 1
                      Familial Acne Inversa 3 1
paths to the root