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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 Acne Inversa 2
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Accession:DOID:9001644 term browser browse the term
Synonyms:exact_synonym: ACNINV2;   familial acne inversa 2, with or without Dowling-Degos disease
 primary_id: OMIM:613736


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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 6:45,171,825...45,174,112
Ensembl chr 6:45,171,825...45,174,102 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      skin disease 3703
        sweat gland disease 152
          hidradenitis 12
            hidradenitis suppurativa 12
              Familial Hidradenitis Suppurativa 3
                Familial Acne Inversa 2 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            skin disease 3703
              sweat gland disease 152
                hidradenitis 12
                  hidradenitis suppurativa 12
                    Familial Hidradenitis Suppurativa 3
                      Familial Acne Inversa 2 1
paths to the root