Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skin (HP:0000951)help
Grandparent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Neoplasm of the skin (HP:0008069)help
..Starting node
..expand
Papilloma (HP:0012740)help
Term ID: 12740
Name: Papilloma
Synonym:
Definition: A tumor of the skin or mucous membrane with finger-like projections.
Comments:
Reference: HP:0012740
Genes and Diseases:
 
       Child Nodes:
........expandSquamous Papilloma (HP:0031021) help
................... HP:0031022 Oropharyngeal squamous papilloma
........expandFacial papilloma (HP:0040167) help
........expandChoroid plexus papilloma (HP:0200022) help
........expandVerrucae (HP:0200043) help
................... HP:0550004 Verruca plana

 Sister Nodes: 
..expandAcanthoma (HP:0025432) help
..expandActinic keratosis (HP:0025127) help
..expandAdenoma sebaceum (HP:0009720) help
..expandBasal cell carcinoma (HP:0002671) help
..expandCutaneous angiolipomas (HP:0006773) help
..expandCutaneous leiomyoma (HP:0007620) help
..expandCutaneous leiomyosarcoma (HP:0006755) help
..expandCutaneous mastocytosis (HP:0200151) help
..expandCutaneous melanoma (HP:0012056) help
..expandCutaneous myxoma (HP:0030428) help
..expandEccrine syringofibroadenoma (HP:0031018) help
..expandFibrofolliculoma (HP:0030436) help
..expandFrontal cutaneous lipoma (HP:0007541) help
..expandKaposi's sarcoma (HP:0100726) help
..expandKeratoacanthoma (HP:0031525) help
..expandLymphocytoma cutis (HP:0031549) help
..expandMerkel cell skin cancer (HP:0030447) help
..expandMultiple cutaneous leiomyomas (HP:0007437) help
..expandMultiple cutaneous malignancies (HP:0007606) help
..expandMyxoid subcutaneous tumors (HP:0006769) help
..expandNeurofibromas (HP:0001067) help
..expandPeripheral Schwannoma (HP:0009593) help
..expandSeborrheic keratosis (HP:0031287) help
..expandSkin appendage neoplasm (HP:0012842) help
..expandSquamous cell carcinoma (HP:0002860) help
..expandSteatocystoma multiplex (HP:0012035) help
..expandSubcutaneous lipoma (HP:0001031) 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:0012740HP:0012740Papilloma0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0012740HP:0012740Papilloma0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0012740HP:0012740Papilloma0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemia4
HP:0012740HP:0012740Papilloma0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0012740HP:0012740Papilloma0CD4 CL E G H9201678OMIM:619238IMMUNODEFICIENCY 79; IMD791
HP:0012740HP:0012740Papilloma0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemia9
HP:0012740HP:0012740Papilloma0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemia6
HP:0012740HP:0012740Papilloma0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformis
HP:0012740HP:0012740Papilloma0CXCR4 CL E G H78522561OMIM:193670Whim syndrome9
HP:0012740HP:0012740Papilloma0CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040282 - Frequent9
HP:0012740HP:0012740Papilloma0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiency94
HP:0012740HP:0012740Papilloma0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0012740HP:0012740Papilloma0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiency217
HP:0012740HP:0012740Papilloma0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosis14
HP:0012740HP:0012740Papilloma0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0012740HP:0012740Papilloma0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0012740HP:0012740Papilloma0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0012740HP:0012740Papilloma0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0012740HP:0012740Papilloma0FCN3 CL E G H85473625OMIM:613860FICOLIN 3 DEFICIENCY1
HP:0012740HP:0012740Papilloma0FLT4 CL E G H23243767OMIM:153100Lymphatic malformation 190
HP:0012740HP:0012740Papilloma0GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia137
HP:0012740HP:0012740Papilloma0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0012740HP:0012740Papilloma0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemia7
HP:0012740HP:0012740Papilloma0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemia3
HP:0012740HP:0012740Papilloma0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0012740HP:0012740Papilloma0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformis
HP:0012740HP:0012740Papilloma0IL7 CL E G H35746023OMIM:618309EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0012740HP:0012740Papilloma0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0012740HP:0012740Papilloma0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0012740HP:0012740Papilloma0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemia3
HP:0012740HP:0012740Papilloma0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040282 - Frequent5
HP:0012740HP:0012740Papilloma0NRAS CL E G H48937989OMIM:249400Neurocutaneous melanosis, somatic102
HP:0012740HP:0012740Papilloma0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040281 - Very frequent162
HP:0012740HP:0012740Papilloma0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemia43
HP:0012740HP:0012740Papilloma0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0012740HP:0012740Papilloma0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040281 - Very frequent948
HP:0012740HP:0012740Papilloma0SASH3 CL E G H5444015975OMIM:3010821
HP:0012740HP:0012740Papilloma0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040281 - Very frequent237
HP:0012740HP:0012740Papilloma0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040281 - Very frequent147
HP:0012740HP:0012740Papilloma0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040281 - Very frequent129
HP:0012740HP:0012740Papilloma0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040281 - Very frequent60
HP:0012740HP:0012740Papilloma0SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 7.60
HP:0012740HP:0012740Papilloma0STK4 CL E G H678911408OMIM:614868T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS4
HP:0012740HP:0012740Papilloma0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemia2
HP:0012740HP:0012740Papilloma0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformis10
HP:0012740HP:0012740Papilloma0TMC6 CL E G H1132218021OMIM:226400Epidermodysplasia verruciformis, susceptibility to, 110
HP:0012740HP:0012740Papilloma0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformis4
HP:0012740HP:0012740Papilloma0TMC8 CL E G H14713820474OMIM:618231EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV24
HP:0012740HP:0012740Papilloma0TP53 CL E G H715711998ORPHA:2807Papilloma of choroid plexus911
HP:0012740HP:0012740Papilloma0TP53 CL E G H715711998OMIM:260500Papilloma of choroid plexus.911
HP:0012740HP:0012740Papilloma0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0012740HP:0012740Papilloma0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0012740HP:0012740Papilloma0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0012740HP:0012740Papilloma0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0012740HP:0031021Squamous Papilloma1 CL E G H
HP:0012740HP:0200043Verrucae1ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of HopfHP:0040282 - Frequent86
HP:0012740HP:0200043Verrucae1BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional4
HP:0012740HP:0200043Verrucae1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0012740HP:0200043Verrucae1CD4 CL E G H9201678OMIM:619238IMMUNODEFICIENCY 79; IMD791
HP:0012740HP:0200043Verrucae1CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional9
HP:0012740HP:0200043Verrucae1CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional6
HP:0012740HP:0200043Verrucae1CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent
HP:0012740HP:0200043Verrucae1CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040282 - Frequent9
HP:0012740HP:0200043Verrucae1CXCR4 CL E G H78522561OMIM:193670Whim syndrome9
HP:0012740HP:0200043Verrucae1DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040282 - Frequent94
HP:0012740HP:0200043Verrucae1DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0012740HP:0200043Verrucae1ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040282 - Frequent14
HP:0012740HP:0200043Verrucae1FCN3 CL E G H85473625OMIM:613860FICOLIN 3 DEFICIENCY1
HP:0012740HP:0200043Verrucae1GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia137
HP:0012740HP:0200043Verrucae1IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional7
HP:0012740HP:0200043Verrucae1IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0012740HP:0200043Verrucae1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040281 - Very frequent52
HP:0012740HP:0200043Verrucae1IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent
HP:0012740HP:0200043Verrucae1IL7 CL E G H35746023OMIM:618309EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0012740HP:0200043Verrucae1IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0012740HP:0200043Verrucae1LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0012740HP:0200022Choroid plexus papilloma1NRAS CL E G H48937989OMIM:249400Neurocutaneous melanosis, somaticHP:0040283 - Occasional102
HP:0012740HP:0200043Verrucae1PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional43
HP:0012740HP:0200043Verrucae1SASH3 CL E G H5444015975OMIM:3010821
HP:0012740HP:0200043Verrucae1STK4 CL E G H678911408OMIM:614868T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS.4
HP:0012740HP:0200043Verrucae1TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional2
HP:0012740HP:0200043Verrucae1TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent10
HP:0012740HP:0200043Verrucae1TMC6 CL E G H1132218021OMIM:226400Epidermodysplasia verruciformis, susceptibility to, 1.10
HP:0012740HP:0200043Verrucae1TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformisHP:0040281 - Very frequent4
HP:0012740HP:0200043Verrucae1TMC8 CL E G H14713820474OMIM:618231EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV24
HP:0012740HP:0200022Choroid plexus papilloma1TP53 CL E G H715711998OMIM:260500Papilloma of choroid plexus.911
HP:0012740HP:0200022Choroid plexus papilloma1TP53 CL E G H715711998ORPHA:2807Papilloma of choroid plexusHP:0040281 - Very frequent911
HP:0012740HP:0040167Facial papilloma1TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0012740HP:0031022Oropharyngeal squamous papilloma2 CL E G H
HP:0012740HP:0032301Genital warts2 CL E G H
HP:0012740HP:0032215Disseminated cutaneous warts2CD4 CL E G H9201678OMIM:619238IMMUNODEFICIENCY 79; IMD791
HP:0012740HP:0550004Verruca plana2TMC8 CL E G H14713820474OMIM:618231EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV24


Genes (48) :AKT1 ATP2A2 BLNK CARMIL2 CD4 CD79A CD79B CIB1 CXCR4 DCLRE1C DDB2 DOCK8 ECM1 ERCC2 ERCC3 ERCC4 ERCC5 FCN3 FLT4 GATA2 HRAS IGHM IGLL1 IKBKG IL7 IVNS1ABP KLLN LRRC8A MSH3 NRAS PIK3CA PIK3R1 PORCN PTEN SASH3 SDHB SDHC SDHD SEC23B STK4 TCF3 TMC6 TMC8 TP53 TPP2 USF3 XPA XPC

Diseases (30) :ORPHA:201 ORPHA:79151 ORPHA:33110 OMIM:618131 OMIM:619238 ORPHA:302 OMIM:193670 ORPHA:51636 ORPHA:275 ORPHA:910 ORPHA:217390 ORPHA:530 OMIM:613860 OMIM:153100 OMIM:614038 ORPHA:3071 ORPHA:464 OMIM:618309 OMIM:618969 ORPHA:480536 OMIM:249400 ORPHA:2092 OMIM:301082 OMIM:616858 OMIM:614868 OMIM:226400 OMIM:618231 ORPHA:2807 OMIM:260500 OMIM:619220
 

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