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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Pustule (HP:0200039)help
Term ID: 200039
Name: Pustule
Synonym: Pimple; Pustula; Pustular lesion; Pustules; Skin pustule; Skin pustules
Definition: A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.
Comments:
Reference: HP:0200039
Genes and Diseases:
 
       Child Nodes:
........expandPalmoplantar pustulosis (HP:0100847) help

 Sister Nodes: 
..expandAcne (HP:0001061) help
..expandAtopic dermatitis (HP:0001047) help
..expandCrusting erythematous dermatitis (HP:0007473) help
..expandCutaneous abscess (HP:0031292) 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
..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:0200039HP:0200039Pustule0ADAM17 CL E G H6868195OMIM:614328INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD12
HP:0200039HP:0200039Pustule0ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent2
HP:0200039HP:0200039Pustule0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040283 - Occasional33
HP:0200039HP:0200039Pustule0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent
HP:0200039HP:0200039Pustule0CTSB CL E G H15082527ORPHA:50943Keratolytic winter erythemaHP:0040283 - Occasional1
HP:0200039HP:0200039Pustule0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0200039HP:0200039Pustule0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040281 - Very frequent14
HP:0200039HP:0200039Pustule0EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2.257
HP:0200039HP:0200039Pustule0EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent257
HP:0200039HP:0200039Pustule0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0200039HP:0200039Pustule0IL17RA CL E G H237655985OMIM:613953Immunodeficiency 51196
HP:0200039HP:0200039Pustule0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0200039HP:0200039Pustule0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0200039HP:0200039Pustule0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent
HP:0200039HP:0200039Pustule0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040283 - Occasional140
HP:0200039HP:0200039Pustule0LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiencyHP:0040282 - Frequent35
HP:0200039HP:0200039Pustule0LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040281 - Very frequent186
HP:0200039HP:0200039Pustule0MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040283 - Occasional281
HP:0200039HP:0200039Pustule0MRTFA CL E G H5759114334OMIM:618847IMMUNODEFICIENCY 66; IMD66
HP:0200039HP:0200039Pustule0PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndromeHP:0040281 - Very frequent96
HP:0200039HP:0200039Pustule0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional67
HP:0200039HP:0200039Pustule0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional61
HP:0200039HP:0200039Pustule0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional57
HP:0200039HP:0200039Pustule0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040281 - Very frequent55
HP:0200039HP:0200039Pustule0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0200039HP:0200039Pustule0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent10
HP:0200039HP:0200039Pustule0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent4
HP:0200039HP:0100847Palmoplantar pustulosis1 CL E G H


Genes (25) :ADAM17 CARD14 CIB1 CTSB CTSC ECM1 EGFR HLA-B IL17RA IL1RN IL36RN IL7 JAK3 LDHA LPIN2 MEFV MRTFA PSTPIP1 SCNN1A SCNN1B SCNN1G SLC39A4 STING1 TMC6 TMC8

Diseases (21) :OMIM:614328 ORPHA:294023 ORPHA:2897 ORPHA:302 ORPHA:50943 ORPHA:678 ORPHA:530 OMIM:616069 ORPHA:29207 OMIM:613953 OMIM:612852 OMIM:614204 ORPHA:35078 ORPHA:284426 ORPHA:77297 ORPHA:3243 OMIM:618847 ORPHA:69126 ORPHA:171876 ORPHA:37 OMIM:615934
 

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