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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


show annotations for term's descendants           Sort by:
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 chr13:87,062,827...87,078,839
Ensembl chr13:84,530,440...84,546,454 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 1:94,942,348...94,943,545
Ensembl chr 1:85,814,905...85,816,192 		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 chr13:87,062,827...87,078,839
Ensembl chr13:84,530,440...84,546,454 		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 chr 1:94,942,348...94,943,545
Ensembl chr 1:85,814,905...85,816,192 		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 chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      skin disease 4322
        sweat gland disease 154
          hidradenitis 12
            hidradenitis suppurativa 12
              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 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              sweat gland disease 154
                hidradenitis 12
                  hidradenitis suppurativa 12
                    Familial Hidradenitis Suppurativa 3
                      Familial Acne Inversa 1 1
                      Familial Acne Inversa 2 1
                      Familial Acne Inversa 3 1
paths to the root