Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin physiology (HP:0011122)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Inflammatory abnormality of the skin (HP:0011123)help
..Starting node
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Cutaneous abscess (HP:0031292)help
Term ID: 31292
Name: Cutaneous abscess
Synonym: Skin abscess
Definition: A circumscribed area of pus or necrotic debris in the skin.
Comments:
Reference: HP:0031292
Genes and Diseases:
 
       Child Nodes:
........expandPerianal abscess (HP:0009789) help
........expandPilonidal abscess (HP:0010771) help
........expandRecurrent cutaneous abscess formation (HP:0100838) help

 Sister Nodes: 
..expandAcne (HP:0001061) help
..expandAtopic dermatitis (HP:0001047) help
..expandCrusting erythematous dermatitis (HP:0007473) help
..expandDeep dermal perivascular inflammatory infiltrate (HP:0031191) help
..expandEczema (HP:0000964) help
..expandErysipelas (HP:0001055) help
..expandErythema nodosum (HP:0012219) help
..expandErythroderma (HP:0001019) help
..expandFolliculitis (HP:0025084) help
..expandNeutrophilic infiltration of the skin (HP:0031234) help
..expandPerifolliculitis (HP:0012322) help
..expandPsoriasiform dermatitis (HP:0003765) help
..expandPustule (HP:0200039) help
..expandRecurrent skin infections (HP:0001581) help
..expandSkin rash (HP:0000988) help
..expandSuperficial dermal perivascular inflammatory infiltrate (HP:0031190) 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:0031292HP:0031292Cutaneous abscess0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0031292HP:0031292Cutaneous abscess0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0031292HP:0031292Cutaneous abscess0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0031292HP:0031292Cutaneous abscess0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0031292HP:0031292Cutaneous abscess0ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0031292HP:0031292Cutaneous abscess0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0031292HP:0031292Cutaneous abscess0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0031292HP:0031292Cutaneous abscess0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0031292HP:0031292Cutaneous abscess0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0031292HP:0031292Cutaneous abscess0IKBKB CL E G H35515960OMIM:618204IMMUNODEFICIENCY 15A; IMD15A4
HP:0031292HP:0031292Cutaneous abscess0IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0031292HP:0031292Cutaneous abscess0IL10RA CL E G H35875964OMIM:613148INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD2864
HP:0031292HP:0031292Cutaneous abscess0IL10RB CL E G H35885965OMIM:612567INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD2529
HP:0031292HP:0031292Cutaneous abscess0IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0031292HP:0031292Cutaneous abscess0IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0031292HP:0031292Cutaneous abscess0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0031292HP:0031292Cutaneous abscess0LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0031292HP:0031292Cutaneous abscess0MNX1 CL E G H31104979OMIM:176450Currarino syndrome17
HP:0031292HP:0031292Cutaneous abscess0MPEG1 CL E G H21997229619OMIM:619223IMMUNODEFICIENCY 77; IMD77
HP:0031292HP:0031292Cutaneous abscess0OTULIN CL E G H9026825118OMIM:6199863
HP:0031292HP:0031292Cutaneous abscess0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040281 - Very frequent15
HP:0031292HP:0031292Cutaneous abscess0PSEN1 CL E G H56639508OMIM:613737Acne inversa, familial, 3241
HP:0031292HP:0031292Cutaneous abscess0PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease2
HP:0031292HP:0031292Cutaneous abscess0RIPK1 CL E G H873710019OMIM:618108IMMUNODEFICIENCY 57; IMD57
HP:0031292HP:0031292Cutaneous abscess0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0031292HP:0031292Cutaneous abscess0TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0031292HP:0031292Cutaneous abscess0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento type7
HP:0031292HP:0010771Pilonidal abscess1 CL E G H
HP:0031292HP:0100838Recurrent cutaneous abscess formation1BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0031292HP:0100838Recurrent cutaneous abscess formation1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0031292HP:0100838Recurrent cutaneous abscess formation1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040282 - Frequent50
HP:0031292HP:0009789Perianal abscess1CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0031292HP:0009789Perianal abscess1ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040283 - Occasional79
HP:0031292HP:0009789Perianal abscess1ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0031292HP:0009789Perianal abscess1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0031292HP:0100838Recurrent cutaneous abscess formation1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0031292HP:0100838Recurrent cutaneous abscess formation1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0031292HP:0009789Perianal abscess1IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0031292HP:0009789Perianal abscess1IL10RA CL E G H35875964OMIM:613148INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD2864
HP:0031292HP:0009789Perianal abscess1IL10RB CL E G H35885965OMIM:612567INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD2529
HP:0031292HP:0100838Recurrent cutaneous abscess formation1LCP2 CL E G H39376529OMIM:619374IMMUNODEFICIENCY 81; IMD81
HP:0031292HP:0009789Perianal abscess1MNX1 CL E G H31104979OMIM:176450Currarino syndrome.17
HP:0031292HP:0100838Recurrent cutaneous abscess formation1PSEN1 CL E G H56639508OMIM:613737Acne inversa, familial, 3241
HP:0031292HP:0100838Recurrent cutaneous abscess formation1PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease.2
HP:0031292HP:0009789Perianal abscess1RIPK1 CL E G H873710019OMIM:618108IMMUNODEFICIENCY 57; IMD57
HP:0031292HP:0009789Perianal abscess1TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0031292HP:0100838Recurrent cutaneous abscess formation1UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7


Genes (27) :BTK CARMIL2 CTSC CYBC1 ELANE ELF4 G6PC3 GJB2 GJB6 IKBKB IKZF3 IL10RA IL10RB IL17RA IL6R IL6ST LCP2 MNX1 MPEG1 OTULIN PGM3 PSEN1 PSENEN RIPK1 STAT3 TGFB1 UBE2A

Diseases (26) :ORPHA:47 OMIM:618131 ORPHA:678 OMIM:618935 ORPHA:2686 OMIM:301074 OMIM:612541 ORPHA:477 OMIM:618204 OMIM:619437 OMIM:613148 OMIM:612567 OMIM:613953 OMIM:618944 OMIM:619752 OMIM:619374 OMIM:176450 OMIM:619223 OMIM:619986 ORPHA:443811 OMIM:613737 OMIM:613736 OMIM:618108 OMIM:147060 OMIM:618213 ORPHA:163956
 

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