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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:hidradenitis suppurativa
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Accession:DOID:2280 term browser browse the term
Definition:A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation. (DO)
Synonyms:exact_synonym: acne inversa;   acne inversa, familial;   acne inversas;   suppurative hidradenitides;   suppurative hidradenitis
 primary_id: MESH:D017497
 xref: EFO:1000710;   GARD:6658;   ICD10CM:L73.2;   NCI:C128429;   OMIM:PS142690
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 molecule ISO protein:increased expression:dermis (human) RGD PMID:29603182 RGD:127285799 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Il17d interleukin 17D sexual_dimorphism ISO mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO RGD PMID:28256718 RGD:126781708 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Familial Acne Inversa 1 term browser
Symbol Object Name Qualifiers 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:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 More... NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
JBrowse link
Familial Acne Inversa 2 term browser
Symbol Object Name Qualifiers 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 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
JBrowse link
Familial Acne Inversa 3 term browser
Symbol Object Name Qualifiers 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:8538334 PMID:8634712 PMID:8733303 More... NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
Familial Hidradenitis Suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncstn nicastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr13:84,530,442...84,546,454
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 6:103,323,052...103,375,088
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 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    sensory system disease 6930
      skin disease 3952
        sweat gland disease 154
          hidradenitis 12
            hidradenitis suppurativa 12
              Familial Hidradenitis Suppurativa + 3
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        Neurologic Manifestations 10017
          sensory system disease 6930
            skin disease 3952
              sweat gland disease 154
                hidradenitis 12
                  hidradenitis suppurativa 12
                    Familial Hidradenitis Suppurativa + 3
paths to the root