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
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Basal cell carcinoma (HP:0002671)help
Term ID: 2671
Name: Basal cell carcinoma
Synonym: Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma
Definition: The presence of a basal cell carcinoma of the skin.
Comments:
Reference: HP:0002671
Genes and Diseases:
 
       Child Nodes:
........expandBasalioma of the outer ear (HP:0040098) help

 Sister Nodes: 
..expandAcanthoma (HP:0025432) help
..expandActinic keratosis (HP:0025127) help
..expandAdenoma sebaceum (HP:0009720) 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
..expandPapilloma (HP:0012740) 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002671HP:0002671Basal cell carcinoma0CIB1 CL E G H10519618267618267618267OMIM116920602293
HP:0002671HP:0002671Basal cell carcinoma0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM1172718600811
HP:0002671HP:0002671Basal cell carcinoma0DICER1 CL E G H23405276399ORPHA114517098606241
HP:0002671HP:0002671Basal cell carcinoma0ERCC2 CL E G H2068220295ORPHA11083434126340
HP:0002671HP:0002671Basal cell carcinoma0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11083434126340
HP:0002671HP:0002671Basal cell carcinoma0ERCC3 CL E G H2071220295ORPHA1203435133510
HP:0002671HP:0002671Basal cell carcinoma0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1203435133510
HP:0002671HP:0002671Basal cell carcinoma0ERCC4 CL E G H2072220295ORPHA1723436133520
HP:0002671HP:0002671Basal cell carcinoma0ERCC5 CL E G H2073220295ORPHA1593437133530
HP:0002671HP:0002671Basal cell carcinoma0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM1345173190020
HP:0002671HP:0002671Basal cell carcinoma0KEAP1 CL E G H9817276399ORPHA1323177606016
HP:0002671HP:0002671Basal cell carcinoma0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM1456407190070
HP:0002671HP:0002671Basal cell carcinoma0LMNA CL E G H4000363618ORPHA15746636150330
HP:0002671HP:0002671Basal cell carcinoma0MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM112037127120436
HP:0002671HP:0002671Basal cell carcinoma0MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM112037127120436
HP:0002671HP:0002671Basal cell carcinoma0MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM112647325609309
HP:0002671HP:0002671Basal cell carcinoma0MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM112647325609309
HP:0002671HP:0002671Basal cell carcinoma0MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM16027329600678
HP:0002671HP:0002671Basal cell carcinoma0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM1147989164790
HP:0002671HP:0002671Basal cell carcinoma0PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM13639122600259
HP:0002671HP:0002671Basal cell carcinoma0POLH CL E G H542990342ORPHA1809181603968
HP:0002671HP:0002671Basal cell carcinoma0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1809181603968
HP:0002671HP:0002671Basal cell carcinoma0PTCH1 CL E G H572777301ORPHA15299585601309
HP:0002671HP:0002671Basal cell carcinoma0PTCH1 CL E G H5727605462Basal cell carcinoma, multiple605462C1854245OMIM15299585601309
HP:0002671HP:0002671Basal cell carcinoma0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM15299585601309
HP:0002671HP:0002671Basal cell carcinoma0PTCH2 CL E G H8643605462Basal cell carcinoma, multiple605462C1854245OMIM1119586603673
HP:0002671HP:0002671Basal cell carcinoma0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1119586603673
HP:0002671HP:0002671Basal cell carcinoma0RASA1 CL E G H5921605462Basal cell carcinoma, multiple605462C1854245OMIM11729871139150
HP:0002671HP:0002671Basal cell carcinoma0RECQL4 CL E G H9401221016ORPHA11229949603780
HP:0002671HP:0002671Basal cell carcinoma0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM11229949603780
HP:0002671HP:0002671Basal cell carcinoma0SMO CL E G H6608605462Basal cell carcinoma, multiple605462C1854245OMIM1711119601500
HP:0002671HP:0002671Basal cell carcinoma0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14716466607035
HP:0002671HP:0002671Basal cell carcinoma0TMC6 CL E G H11322226400EPIDERMODYSPLASIA VERRUCIFORMIS226400C0014522OMIM1818021605828
HP:0002671HP:0002671Basal cell carcinoma0WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM18413829606268
HP:0002671HP:0002671Basal cell carcinoma0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM110012816613208
HP:0002671HP:0002671Basal cell carcinoma1CIB1 CL E G H10519618267618267618267OMIM116920602293
HP:0002671HP:0002671Basal cell carcinoma1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM1172718600811
HP:0002671HP:0002671Basal cell carcinoma1DICER1 CL E G H23405276399ORPHA114517098606241
HP:0002671HP:0002671Basal cell carcinoma1ERCC2 CL E G H2068220295ORPHA11083434126340
HP:0002671HP:0002671Basal cell carcinoma1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11083434126340
HP:0002671HP:0002671Basal cell carcinoma1ERCC3 CL E G H2071220295ORPHA1203435133510
HP:0002671HP:0002671Basal cell carcinoma1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1203435133510
HP:0002671HP:0002671Basal cell carcinoma1ERCC4 CL E G H2072220295ORPHA1723436133520
HP:0002671HP:0002671Basal cell carcinoma1ERCC5 CL E G H2073220295ORPHA1593437133530
HP:0002671HP:0002671Basal cell carcinoma1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM1345173190020
HP:0002671HP:0002671Basal cell carcinoma1KEAP1 CL E G H9817276399ORPHA1323177606016
HP:0002671HP:0002671Basal cell carcinoma1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM1456407190070
HP:0002671HP:0002671Basal cell carcinoma1LMNA CL E G H4000363618ORPHA15746636150330
HP:0002671HP:0002671Basal cell carcinoma1MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM112037127120436
HP:0002671HP:0002671Basal cell carcinoma1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM112037127120436
HP:0002671HP:0002671Basal cell carcinoma1MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM112647325609309
HP:0002671HP:0002671Basal cell carcinoma1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM112647325609309
HP:0002671HP:0002671Basal cell carcinoma1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM16027329600678
HP:0002671HP:0002671Basal cell carcinoma1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM1147989164790
HP:0002671HP:0002671Basal cell carcinoma1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM13639122600259
HP:0002671HP:0002671Basal cell carcinoma1POLH CL E G H542990342ORPHA1809181603968
HP:0002671HP:0002671Basal cell carcinoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1809181603968
HP:0002671HP:0002671Basal cell carcinoma1PTCH1 CL E G H572777301ORPHA15299585601309
HP:0002671HP:0002671Basal cell carcinoma1PTCH1 CL E G H5727605462Basal cell carcinoma, multiple605462C1854245OMIM15299585601309
HP:0002671HP:0002671Basal cell carcinoma1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM15299585601309
HP:0002671HP:0002671Basal cell carcinoma1PTCH2 CL E G H8643605462Basal cell carcinoma, multiple605462C1854245OMIM1119586603673
HP:0002671HP:0002671Basal cell carcinoma1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1119586603673
HP:0002671HP:0002671Basal cell carcinoma1RASA1 CL E G H5921605462Basal cell carcinoma, multiple605462C1854245OMIM11729871139150
HP:0002671HP:0002671Basal cell carcinoma1RECQL4 CL E G H9401221016ORPHA11229949603780
HP:0002671HP:0002671Basal cell carcinoma1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM11229949603780
HP:0002671HP:0002671Basal cell carcinoma1SMO CL E G H6608605462Basal cell carcinoma, multiple605462C1854245OMIM1711119601500
HP:0002671HP:0002671Basal cell carcinoma1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14716466607035
HP:0002671HP:0002671Basal cell carcinoma1TMC6 CL E G H11322226400EPIDERMODYSPLASIA VERRUCIFORMIS226400C0014522OMIM1818021605828
HP:0002671HP:0002671Basal cell carcinoma1WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM18413829606268
HP:0002671HP:0002671Basal cell carcinoma1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM110012816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002671HP:0002671Basal cell carcinoma0CYLD CL E G H1540867BerylliosisORPHA01072584605018
HP:0002671HP:0002671Basal cell carcinoma0CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM01072584605018
HP:0002671HP:0002671Basal cell carcinoma0EPCAM CL E G H4072144ORPHA08111529185535
HP:0002671HP:0002671Basal cell carcinoma0FAN1 CL E G H22909144ORPHA02129170613534
HP:0002671HP:0002671Basal cell carcinoma0KRAS CL E G H3845144ORPHA0456407190070
HP:0002671HP:0002671Basal cell carcinoma0MC1R CL E G H415779432ORPHA01096929155555
HP:0002671HP:0002671Basal cell carcinoma0MLH1 CL E G H4292144ORPHA012037127120436
HP:0002671HP:0002671Basal cell carcinoma0MLH3 CL E G H27030144ORPHA0327128604395
HP:0002671HP:0002671Basal cell carcinoma0MSH2 CL E G H4436144ORPHA012647325609309
HP:0002671HP:0002671Basal cell carcinoma0MSH6 CL E G H2956144ORPHA06027329600678
HP:0002671HP:0002671Basal cell carcinoma0NTHL1 CL E G H4913454840ORPHA048028602656
HP:0002671HP:0002671Basal cell carcinoma0OCA2 CL E G H494879432ORPHA03168101611409
HP:0002671HP:0002671Basal cell carcinoma0PIK3CA CL E G H5290144ORPHA0578975171834
HP:0002671HP:0002671Basal cell carcinoma0PMS1 CL E G H5378144ORPHA0369121600258
HP:0002671HP:0002671Basal cell carcinoma0PMS2 CL E G H5395144ORPHA03639122600259
HP:0002671HP:0002671Basal cell carcinoma0SLC45A2 CL E G H5115179435ORPHA016116472606202
HP:0002671HP:0002671Basal cell carcinoma0TGFBR2 CL E G H7048144ORPHA014811773190182
HP:0002671HP:0002671Basal cell carcinoma0TYR CL E G H729979434ORPHA044512442606933
HP:0002671HP:0002671Basal cell carcinoma0TYR CL E G H729979431ORPHA044512442606933
HP:0002671HP:0002671Basal cell carcinoma0WNT10A CL E G H8032650944ORPHA08413829606268
HP:0002671HP:0002671Basal cell carcinoma1CYLD CL E G H1540867BerylliosisORPHA01072584605018
HP:0002671HP:0002671Basal cell carcinoma1CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM01072584605018
HP:0002671HP:0002671Basal cell carcinoma1EPCAM CL E G H4072144ORPHA08111529185535
HP:0002671HP:0002671Basal cell carcinoma1FAN1 CL E G H22909144ORPHA02129170613534
HP:0002671HP:0002671Basal cell carcinoma1KRAS CL E G H3845144ORPHA0456407190070
HP:0002671HP:0002671Basal cell carcinoma1MC1R CL E G H415779432ORPHA01096929155555
HP:0002671HP:0002671Basal cell carcinoma1MLH1 CL E G H4292144ORPHA012037127120436
HP:0002671HP:0002671Basal cell carcinoma1MLH3 CL E G H27030144ORPHA0327128604395
HP:0002671HP:0002671Basal cell carcinoma1MSH2 CL E G H4436144ORPHA012647325609309
HP:0002671HP:0002671Basal cell carcinoma1MSH6 CL E G H2956144ORPHA06027329600678
HP:0002671HP:0002671Basal cell carcinoma1NTHL1 CL E G H4913454840ORPHA048028602656
HP:0002671HP:0002671Basal cell carcinoma1OCA2 CL E G H494879432ORPHA03168101611409
HP:0002671HP:0002671Basal cell carcinoma1PIK3CA CL E G H5290144ORPHA0578975171834
HP:0002671HP:0002671Basal cell carcinoma1PMS1 CL E G H5378144ORPHA0369121600258
HP:0002671HP:0002671Basal cell carcinoma1PMS2 CL E G H5395144ORPHA03639122600259
HP:0002671HP:0002671Basal cell carcinoma1SLC45A2 CL E G H5115179435ORPHA016116472606202
HP:0002671HP:0002671Basal cell carcinoma1TGFBR2 CL E G H7048144ORPHA014811773190182
HP:0002671HP:0002671Basal cell carcinoma1TYR CL E G H729979434ORPHA044512442606933
HP:0002671HP:0002671Basal cell carcinoma1TYR CL E G H729979431ORPHA044512442606933
HP:0002671HP:0002671Basal cell carcinoma1WNT10A CL E G H8032650944ORPHA08413829606268


Genes (38) :CIB1 CYLD DDB2 DICER1 EPCAM ERCC2 ERCC3 ERCC4 ERCC5 FAN1 HRAS KEAP1 KRAS LMNA MC1R MLH1 MLH3 MSH2 MSH6 NRAS NTHL1 OCA2 PIK3CA PMS1 PMS2 POLH PTCH1 PTCH2 RASA1 RECQL4 SLC45A2 SMO SUFU TGFBR2 TMC6 TYR WNT10A XPC

Diseases (29) :618267 867 601606 278740 276399 144 220295 601675 610651 163200 363618 79432 158320 276300 454840 90342 278750 77301 605462 109400 221016 268400 79435 226400 79431 79434 50944 224750 278720
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.