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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
 xref: MIM:613736;   MONDO:0013397

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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 chrNW_004936570:576,722...578,022
Ensembl chrNW_004936570:576,722...578,010 		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 2 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 2 1
paths to the root