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
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 H10519618267618267618267OMIM110916920602293
HP:0002671HP:0002671Basal cell carcinoma0CIB1 CL E G H10519618267618267618267OMIM16216920602293
HP:0002671HP:0002671Basal cell carcinoma0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002671HP:0002671Basal cell carcinoma0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002671HP:0002671Basal cell carcinoma0DICER1 CL E G H23405276399ORPHA1388817098606241
HP:0002671HP:0002671Basal cell carcinoma0DICER1 CL E G H23405276399ORPHA1344017098606241
HP:0002671HP:0002671Basal cell carcinoma0ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002671HP:0002671Basal cell carcinoma0ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002671HP:0002671Basal cell carcinoma0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0002671HP:0002671Basal cell carcinoma0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0002671HP:0002671Basal cell carcinoma0ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002671HP:0002671Basal cell carcinoma0ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002671HP:0002671Basal cell carcinoma0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0002671HP:0002671Basal cell carcinoma0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0002671HP:0002671Basal cell carcinoma0ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002671HP:0002671Basal cell carcinoma0ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002671HP:0002671Basal cell carcinoma0ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002671HP:0002671Basal cell carcinoma0ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002671HP:0002671Basal cell carcinoma0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14675173190020
HP:0002671HP:0002671Basal cell carcinoma0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14115173190020
HP:0002671HP:0002671Basal cell carcinoma0KEAP1 CL E G H9817276399ORPHA12923177606016
HP:0002671HP:0002671Basal cell carcinoma0KEAP1 CL E G H9817276399ORPHA12823177606016
HP:0002671HP:0002671Basal cell carcinoma0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13416407190070
HP:0002671HP:0002671Basal cell carcinoma0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13316407190070
HP:0002671HP:0002671Basal cell carcinoma0LMNA CL E G H4000363618ORPHA114866636150330
HP:0002671HP:0002671Basal cell carcinoma0LMNA CL E G H4000363618ORPHA113476636150330
HP:0002671HP:0002671Basal cell carcinoma0MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM137637127120436
HP:0002671HP:0002671Basal cell carcinoma0MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM135407127120436
HP:0002671HP:0002671Basal cell carcinoma0MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM137637127120436
HP:0002671HP:0002671Basal cell carcinoma0MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM135407127120436
HP:0002671HP:0002671Basal cell carcinoma0MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM149647325609309
HP:0002671HP:0002671Basal cell carcinoma0MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM146077325609309
HP:0002671HP:0002671Basal cell carcinoma0MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM149647325609309
HP:0002671HP:0002671Basal cell carcinoma0MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM146077325609309
HP:0002671HP:0002671Basal cell carcinoma0MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM162197329600678
HP:0002671HP:0002671Basal cell carcinoma0MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM157177329600678
HP:0002671HP:0002671Basal cell carcinoma0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12267989164790
HP:0002671HP:0002671Basal cell carcinoma0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12127989164790
HP:0002671HP:0002671Basal cell carcinoma0PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM134219122600259
HP:0002671HP:0002671Basal cell carcinoma0PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM131549122600259
HP:0002671HP:0002671Basal cell carcinoma0POLH CL E G H542990342ORPHA13079181603968
HP:0002671HP:0002671Basal cell carcinoma0POLH CL E G H542990342ORPHA13039181603968
HP:0002671HP:0002671Basal cell carcinoma0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0002671HP:0002671Basal cell carcinoma0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0002671HP:0002671Basal cell carcinoma0PTCH1 CL E G H572777301ORPHA129889585601309
HP:0002671HP:0002671Basal cell carcinoma0PTCH1 CL E G H572777301ORPHA126289585601309
HP:0002671HP:0002671Basal cell carcinoma0PTCH1 CL E G H5727605462Basal cell carcinoma, multiple605462C1854245OMIM129889585601309
HP:0002671HP:0002671Basal cell carcinoma0PTCH1 CL E G H5727605462Basal cell carcinoma, multiple605462C1854245OMIM126289585601309
HP:0002671HP:0002671Basal cell carcinoma0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM129889585601309
HP:0002671HP:0002671Basal cell carcinoma0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM126289585601309
HP:0002671HP:0002671Basal cell carcinoma0PTCH2 CL E G H8643605462Basal cell carcinoma, multiple605462C1854245OMIM15419586603673
HP:0002671HP:0002671Basal cell carcinoma0PTCH2 CL E G H8643605462Basal cell carcinoma, multiple605462C1854245OMIM14269586603673
HP:0002671HP:0002671Basal cell carcinoma0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM15419586603673
HP:0002671HP:0002671Basal cell carcinoma0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM14269586603673
HP:0002671HP:0002671Basal cell carcinoma0RASA1 CL E G H5921605462Basal cell carcinoma, multiple605462C1854245OMIM15839871139150
HP:0002671HP:0002671Basal cell carcinoma0RASA1 CL E G H5921605462Basal cell carcinoma, multiple605462C1854245OMIM14589871139150
HP:0002671HP:0002671Basal cell carcinoma0RECQL4 CL E G H9401221016ORPHA132749949603780
HP:0002671HP:0002671Basal cell carcinoma0RECQL4 CL E G H9401221016ORPHA127519949603780
HP:0002671HP:0002671Basal cell carcinoma0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM132749949603780
HP:0002671HP:0002671Basal cell carcinoma0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM127519949603780
HP:0002671HP:0002671Basal cell carcinoma0SMO CL E G H6608605462Basal cell carcinoma, multiple605462C1854245OMIM111811119601500
HP:0002671HP:0002671Basal cell carcinoma0SMO CL E G H6608605462Basal cell carcinoma, multiple605462C1854245OMIM111611119601500
HP:0002671HP:0002671Basal cell carcinoma0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM181516466607035
HP:0002671HP:0002671Basal cell carcinoma0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM170316466607035
HP:0002671HP:0002671Basal cell carcinoma0TMC6 CL E G H11322226400EPIDERMODYSPLASIA VERRUCIFORMIS226400C0014522OMIM151118021605828
HP:0002671HP:0002671Basal cell carcinoma0TMC6 CL E G H11322226400EPIDERMODYSPLASIA VERRUCIFORMIS226400C0014522OMIM139718021605828
HP:0002671HP:0002671Basal cell carcinoma0WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM130913829606268
HP:0002671HP:0002671Basal cell carcinoma0WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM129113829606268
HP:0002671HP:0002671Basal cell carcinoma0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0002671HP:0002671Basal cell carcinoma0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0002671HP:0040098Basalioma of the outer ear1CIB1 CL E G H10519618267618267618267OMIM110916920602293
HP:0002671HP:0040098Basalioma of the outer ear1CIB1 CL E G H10519618267618267618267OMIM16216920602293
HP:0002671HP:0040098Basalioma of the outer ear1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002671HP:0040098Basalioma of the outer ear1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002671HP:0040098Basalioma of the outer ear1DICER1 CL E G H23405276399ORPHA1388817098606241
HP:0002671HP:0040098Basalioma of the outer ear1DICER1 CL E G H23405276399ORPHA1344017098606241
HP:0002671HP:0040098Basalioma of the outer ear1ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002671HP:0040098Basalioma of the outer ear1ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002671HP:0040098Basalioma of the outer ear1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0002671HP:0040098Basalioma of the outer ear1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0002671HP:0040098Basalioma of the outer ear1ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002671HP:0040098Basalioma of the outer ear1ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002671HP:0040098Basalioma of the outer ear1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0002671HP:0040098Basalioma of the outer ear1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0002671HP:0040098Basalioma of the outer ear1ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002671HP:0040098Basalioma of the outer ear1ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002671HP:0040098Basalioma of the outer ear1ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002671HP:0040098Basalioma of the outer ear1ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002671HP:0040098Basalioma of the outer ear1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14675173190020
HP:0002671HP:0040098Basalioma of the outer ear1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14115173190020
HP:0002671HP:0040098Basalioma of the outer ear1KEAP1 CL E G H9817276399ORPHA12923177606016
HP:0002671HP:0040098Basalioma of the outer ear1KEAP1 CL E G H9817276399ORPHA12823177606016
HP:0002671HP:0040098Basalioma of the outer ear1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13416407190070
HP:0002671HP:0040098Basalioma of the outer ear1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13316407190070
HP:0002671HP:0040098Basalioma of the outer ear1LMNA CL E G H4000363618ORPHA114866636150330
HP:0002671HP:0040098Basalioma of the outer ear1LMNA CL E G H4000363618ORPHA113476636150330
HP:0002671HP:0040098Basalioma of the outer ear1MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM137637127120436
HP:0002671HP:0040098Basalioma of the outer ear1MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM135407127120436
HP:0002671HP:0040098Basalioma of the outer ear1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM137637127120436
HP:0002671HP:0040098Basalioma of the outer ear1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM135407127120436
HP:0002671HP:0040098Basalioma of the outer ear1MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM149647325609309
HP:0002671HP:0040098Basalioma of the outer ear1MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM146077325609309
HP:0002671HP:0040098Basalioma of the outer ear1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM149647325609309
HP:0002671HP:0040098Basalioma of the outer ear1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM146077325609309
HP:0002671HP:0040098Basalioma of the outer ear1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM162197329600678
HP:0002671HP:0040098Basalioma of the outer ear1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM157177329600678
HP:0002671HP:0040098Basalioma of the outer ear1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12267989164790
HP:0002671HP:0040098Basalioma of the outer ear1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12127989164790
HP:0002671HP:0040098Basalioma of the outer ear1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM134219122600259
HP:0002671HP:0040098Basalioma of the outer ear1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM131549122600259
HP:0002671HP:0040098Basalioma of the outer ear1POLH CL E G H542990342ORPHA13079181603968
HP:0002671HP:0040098Basalioma of the outer ear1POLH CL E G H542990342ORPHA13039181603968
HP:0002671HP:0040098Basalioma of the outer ear1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0002671HP:0040098Basalioma of the outer ear1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0002671HP:0040098Basalioma of the outer ear1PTCH1 CL E G H572777301ORPHA129889585601309
HP:0002671HP:0040098Basalioma of the outer ear1PTCH1 CL E G H572777301ORPHA126289585601309
HP:0002671HP:0040098Basalioma of the outer ear1PTCH1 CL E G H5727605462Basal cell carcinoma, multiple605462C1854245OMIM129889585601309
HP:0002671HP:0040098Basalioma of the outer ear1PTCH1 CL E G H5727605462Basal cell carcinoma, multiple605462C1854245OMIM126289585601309
HP:0002671HP:0040098Basalioma of the outer ear1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM129889585601309
HP:0002671HP:0040098Basalioma of the outer ear1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM126289585601309
HP:0002671HP:0040098Basalioma of the outer ear1PTCH2 CL E G H8643605462Basal cell carcinoma, multiple605462C1854245OMIM15419586603673
HP:0002671HP:0040098Basalioma of the outer ear1PTCH2 CL E G H8643605462Basal cell carcinoma, multiple605462C1854245OMIM14269586603673
HP:0002671HP:0040098Basalioma of the outer ear1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM15419586603673
HP:0002671HP:0040098Basalioma of the outer ear1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM14269586603673
HP:0002671HP:0040098Basalioma of the outer ear1RASA1 CL E G H5921605462Basal cell carcinoma, multiple605462C1854245OMIM15839871139150
HP:0002671HP:0040098Basalioma of the outer ear1RASA1 CL E G H5921605462Basal cell carcinoma, multiple605462C1854245OMIM14589871139150
HP:0002671HP:0040098Basalioma of the outer ear1RECQL4 CL E G H9401221016ORPHA132749949603780
HP:0002671HP:0040098Basalioma of the outer ear1RECQL4 CL E G H9401221016ORPHA127519949603780
HP:0002671HP:0040098Basalioma of the outer ear1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM132749949603780
HP:0002671HP:0040098Basalioma of the outer ear1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM127519949603780
HP:0002671HP:0040098Basalioma of the outer ear1SMO CL E G H6608605462Basal cell carcinoma, multiple605462C1854245OMIM111811119601500
HP:0002671HP:0040098Basalioma of the outer ear1SMO CL E G H6608605462Basal cell carcinoma, multiple605462C1854245OMIM111611119601500
HP:0002671HP:0040098Basalioma of the outer ear1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM181516466607035
HP:0002671HP:0040098Basalioma of the outer ear1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM170316466607035
HP:0002671HP:0040098Basalioma of the outer ear1TMC6 CL E G H11322226400EPIDERMODYSPLASIA VERRUCIFORMIS226400C0014522OMIM151118021605828
HP:0002671HP:0040098Basalioma of the outer ear1TMC6 CL E G H11322226400EPIDERMODYSPLASIA VERRUCIFORMIS226400C0014522OMIM139718021605828
HP:0002671HP:0040098Basalioma of the outer ear1WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM130913829606268
HP:0002671HP:0040098Basalioma of the outer ear1WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM129113829606268
HP:0002671HP:0040098Basalioma of the outer ear1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0002671HP:0040098Basalioma of the outer ear1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002671HP:0002671Basal cell carcinoma0CYLD CL E G H1540867BerylliosisORPHA02462584605018
HP:0002671HP:0002671Basal cell carcinoma0CYLD CL E G H1540867BerylliosisORPHA02442584605018
HP:0002671HP:0002671Basal cell carcinoma0CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM02462584605018
HP:0002671HP:0002671Basal cell carcinoma0CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM02442584605018
HP:0002671HP:0002671Basal cell carcinoma0EPCAM CL E G H4072144ORPHA037411529185535
HP:0002671HP:0002671Basal cell carcinoma0EPCAM CL E G H4072144ORPHA036011529185535
HP:0002671HP:0002671Basal cell carcinoma0FAN1 CL E G H22909144ORPHA036129170613534
HP:0002671HP:0002671Basal cell carcinoma0FAN1 CL E G H22909144ORPHA035129170613534
HP:0002671HP:0002671Basal cell carcinoma0KRAS CL E G H3845144ORPHA03416407190070
HP:0002671HP:0002671Basal cell carcinoma0KRAS CL E G H3845144ORPHA03316407190070
HP:0002671HP:0002671Basal cell carcinoma0MC1R CL E G H415779432ORPHA04286929155555
HP:0002671HP:0002671Basal cell carcinoma0MC1R CL E G H415779432ORPHA03766929155555
HP:0002671HP:0002671Basal cell carcinoma0MLH1 CL E G H4292144ORPHA037637127120436
HP:0002671HP:0002671Basal cell carcinoma0MLH1 CL E G H4292144ORPHA035407127120436
HP:0002671HP:0002671Basal cell carcinoma0MLH3 CL E G H27030144ORPHA07637128604395
HP:0002671HP:0002671Basal cell carcinoma0MLH3 CL E G H27030144ORPHA06347128604395
HP:0002671HP:0002671Basal cell carcinoma0MSH2 CL E G H4436144ORPHA049647325609309
HP:0002671HP:0002671Basal cell carcinoma0MSH2 CL E G H4436144ORPHA046077325609309
HP:0002671HP:0002671Basal cell carcinoma0MSH6 CL E G H2956144ORPHA062197329600678
HP:0002671HP:0002671Basal cell carcinoma0MSH6 CL E G H2956144ORPHA057177329600678
HP:0002671HP:0002671Basal cell carcinoma0NTHL1 CL E G H4913454840ORPHA09028028602656
HP:0002671HP:0002671Basal cell carcinoma0NTHL1 CL E G H4913454840ORPHA07558028602656
HP:0002671HP:0002671Basal cell carcinoma0OCA2 CL E G H494879432ORPHA08518101611409
HP:0002671HP:0002671Basal cell carcinoma0OCA2 CL E G H494879432ORPHA06628101611409
HP:0002671HP:0002671Basal cell carcinoma0PIK3CA CL E G H5290144ORPHA06138975171834
HP:0002671HP:0002671Basal cell carcinoma0PIK3CA CL E G H5290144ORPHA05448975171834
HP:0002671HP:0002671Basal cell carcinoma0PMS1 CL E G H5378144ORPHA0929121600258
HP:0002671HP:0002671Basal cell carcinoma0PMS1 CL E G H5378144ORPHA0859121600258
HP:0002671HP:0002671Basal cell carcinoma0PMS2 CL E G H5395144ORPHA034219122600259
HP:0002671HP:0002671Basal cell carcinoma0PMS2 CL E G H5395144ORPHA031549122600259
HP:0002671HP:0002671Basal cell carcinoma0SLC45A2 CL E G H5115179435ORPHA026716472606202
HP:0002671HP:0002671Basal cell carcinoma0SLC45A2 CL E G H5115179435ORPHA016216472606202
HP:0002671HP:0002671Basal cell carcinoma0TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0002671HP:0002671Basal cell carcinoma0TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0002671HP:0002671Basal cell carcinoma0TYR CL E G H729979431ORPHA035812442606933
HP:0002671HP:0002671Basal cell carcinoma0TYR CL E G H729979434ORPHA035812442606933
HP:0002671HP:0002671Basal cell carcinoma0TYR CL E G H729979431ORPHA025912442606933
HP:0002671HP:0002671Basal cell carcinoma0TYR CL E G H729979434ORPHA025912442606933
HP:0002671HP:0002671Basal cell carcinoma0WNT10A CL E G H8032650944ORPHA030913829606268
HP:0002671HP:0002671Basal cell carcinoma0WNT10A CL E G H8032650944ORPHA029113829606268
HP:0002671HP:0040098Basalioma of the outer ear1CYLD CL E G H1540867BerylliosisORPHA02462584605018
HP:0002671HP:0040098Basalioma of the outer ear1CYLD CL E G H1540867BerylliosisORPHA02442584605018
HP:0002671HP:0040098Basalioma of the outer ear1CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM02462584605018
HP:0002671HP:0040098Basalioma of the outer ear1CYLD CL E G H1540601606Familial multiple trichoepitheliomata601606C1275122OMIM02442584605018
HP:0002671HP:0040098Basalioma of the outer ear1EPCAM CL E G H4072144ORPHA037411529185535
HP:0002671HP:0040098Basalioma of the outer ear1EPCAM CL E G H4072144ORPHA036011529185535
HP:0002671HP:0040098Basalioma of the outer ear1FAN1 CL E G H22909144ORPHA036129170613534
HP:0002671HP:0040098Basalioma of the outer ear1FAN1 CL E G H22909144ORPHA035129170613534
HP:0002671HP:0040098Basalioma of the outer ear1KRAS CL E G H3845144ORPHA03416407190070
HP:0002671HP:0040098Basalioma of the outer ear1KRAS CL E G H3845144ORPHA03316407190070
HP:0002671HP:0040098Basalioma of the outer ear1MC1R CL E G H415779432ORPHA04286929155555
HP:0002671HP:0040098Basalioma of the outer ear1MC1R CL E G H415779432ORPHA03766929155555
HP:0002671HP:0040098Basalioma of the outer ear1MLH1 CL E G H4292144ORPHA037637127120436
HP:0002671HP:0040098Basalioma of the outer ear1MLH1 CL E G H4292144ORPHA035407127120436
HP:0002671HP:0040098Basalioma of the outer ear1MLH3 CL E G H27030144ORPHA07637128604395
HP:0002671HP:0040098Basalioma of the outer ear1MLH3 CL E G H27030144ORPHA06347128604395
HP:0002671HP:0040098Basalioma of the outer ear1MSH2 CL E G H4436144ORPHA049647325609309
HP:0002671HP:0040098Basalioma of the outer ear1MSH2 CL E G H4436144ORPHA046077325609309
HP:0002671HP:0040098Basalioma of the outer ear1MSH6 CL E G H2956144ORPHA062197329600678
HP:0002671HP:0040098Basalioma of the outer ear1MSH6 CL E G H2956144ORPHA057177329600678
HP:0002671HP:0040098Basalioma of the outer ear1NTHL1 CL E G H4913454840ORPHA09028028602656
HP:0002671HP:0040098Basalioma of the outer ear1NTHL1 CL E G H4913454840ORPHA07558028602656
HP:0002671HP:0040098Basalioma of the outer ear1OCA2 CL E G H494879432ORPHA08518101611409
HP:0002671HP:0040098Basalioma of the outer ear1OCA2 CL E G H494879432ORPHA06628101611409
HP:0002671HP:0040098Basalioma of the outer ear1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0002671HP:0040098Basalioma of the outer ear1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0002671HP:0040098Basalioma of the outer ear1PMS1 CL E G H5378144ORPHA0929121600258
HP:0002671HP:0040098Basalioma of the outer ear1PMS1 CL E G H5378144ORPHA0859121600258
HP:0002671HP:0040098Basalioma of the outer ear1PMS2 CL E G H5395144ORPHA034219122600259
HP:0002671HP:0040098Basalioma of the outer ear1PMS2 CL E G H5395144ORPHA031549122600259
HP:0002671HP:0040098Basalioma of the outer ear1SLC45A2 CL E G H5115179435ORPHA026716472606202
HP:0002671HP:0040098Basalioma of the outer ear1SLC45A2 CL E G H5115179435ORPHA016216472606202
HP:0002671HP:0040098Basalioma of the outer ear1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0002671HP:0040098Basalioma of the outer ear1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0002671HP:0040098Basalioma of the outer ear1TYR CL E G H729979431ORPHA035812442606933
HP:0002671HP:0040098Basalioma of the outer ear1TYR CL E G H729979434ORPHA035812442606933
HP:0002671HP:0040098Basalioma of the outer ear1TYR CL E G H729979434ORPHA025912442606933
HP:0002671HP:0040098Basalioma of the outer ear1TYR CL E G H729979431ORPHA025912442606933
HP:0002671HP:0040098Basalioma of the outer ear1WNT10A CL E G H8032650944ORPHA030913829606268
HP:0002671HP:0040098Basalioma of the outer ear1WNT10A CL E G H8032650944ORPHA029113829606268


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 79434 79431 50944 224750 278720
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.