Human Phenotype Ontology 
Grandparent Node:
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Inflammatory abnormality of the skin (HP:0011123)help
Parent Node:
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Acne (HP:0001061)help
..Starting node
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Acne inversa (HP:0040154)help
Term ID: 40154
Name: Acne inversa
Synonym: Hidradenitis suppurativa; Pyoderma fistulans significa; Smoker's boils; Verneuil's disease
Definition: A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.
Comments:
Reference: HP:0040154
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandComedonal acne (HP:0040137) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040154HP:0040154Acne inversa0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0040154HP:0040154Acne inversa0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0040154HP:0040154Acne inversa0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0040154HP:0040154Acne inversa0IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0040154HP:0040154Acne inversa0KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type.1
HP:0040154HP:0040154Acne inversa0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional173
HP:0040154HP:0040154Acne inversa0MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0040154HP:0040154Acne inversa0MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040283 - Occasional281
HP:0040154HP:0040154Acne inversa0NCSTN CL E G H2338517091OMIM:142690Acne inversa, familial.5
HP:0040154HP:0040154Acne inversa0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0040154HP:0040154Acne inversa0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional6
HP:0040154HP:0040154Acne inversa0PSEN1 CL E G H56639508OMIM:613737Acne inversa, familial, 3241
HP:0040154HP:0040154Acne inversa0PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease.2
HP:0040154HP:0040154Acne inversa0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2


Genes (12) :GJB2 GJB6 HYOU1 IKBKB KDF1 KRT5 MEFV NCSTN POFUT1 POGLUT1 PSEN1 PSENEN

Diseases (10) :ORPHA:477 OMIM:233600 OMIM:618204 OMIM:617337 ORPHA:79145 OMIM:608068 ORPHA:3243 OMIM:142690 OMIM:613737 OMIM:613736
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.