Human Phenotype Ontology 
Grandparent Node:
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Localized skin lesion (HP:0011355)help
Parent Node:
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Hyperkeratosis (HP:0000962)help
Parent Node:
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Papule (HP:0200034)help
..Starting node
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Hyperkeratotic papule (HP:0045059)help
Term ID: 45059
Name: Hyperkeratotic papule
Synonym:
Definition: A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).
Comments:
Reference: HP:0045059
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandErythematous papule (HP:0030350) help
..expandGottron's papules (HP:0025508) help
..expandHyperpigmented papule (HP:0025473) help
..expandIntermittent generalized erythematous papular rash (HP:0007432) help
..expandPiezogenic pedal papules (HP:0025509) help
..expandSkin-colored papule (HP:0025512) help
..expandVerrucous papule (HP:0012500) help
..expandWhite papule (HP:0031289) help
..expandYellow papule (HP:0025507) 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:0045059HP:0045059Hyperkeratotic papule0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent7
HP:0045059HP:0045059Hyperkeratotic papule0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent2
HP:0045059HP:0045059Hyperkeratotic papule0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040283 - Occasional263
HP:0045059HP:0045059Hyperkeratotic papule0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0045059HP:0045059Hyperkeratotic papule0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0045059HP:0045059Hyperkeratotic papule0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0045059HP:0045059Hyperkeratotic papule0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional173
HP:0045059HP:0045059Hyperkeratotic papule0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0045059HP:0045059Hyperkeratotic papule0LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculataHP:0040282 - Frequent4
HP:0045059HP:0045059Hyperkeratotic papule0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0045059HP:0045059Hyperkeratotic papule0POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 22
HP:0045059HP:0045059Hyperkeratotic papule0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional6
HP:0045059HP:0045059Hyperkeratotic papule0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2


Genes (11) :AAGAB COL14A1 COL7A1 GJB2 GJB6 KRT14 KRT5 LRP1 POFUT1 POGLUT1 PSENEN

Diseases (8) :ORPHA:79501 ORPHA:79410 ORPHA:2698 ORPHA:189 ORPHA:79397 ORPHA:79145 ORPHA:79100 OMIM:615327
 

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