Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the skin (HP:0000951)help
Grandparent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
Parent Node:
expand
Neoplasm of the skin (HP:0008069)help
..Starting node
..expand
Squamous cell carcinoma (HP:0002860)help
Term ID: 2860
Name: Squamous cell carcinoma
Synonym: Squamous cell cancer
Definition: The presence of squamous cell carcinoma of the skin.
Comments:
Reference: HP:0002860
Genes and Diseases:
 
       Child Nodes:
........expandSquamous cell carcinoma of the skin (HP:0006739) help
........expandOropharyngeal squamous cell carcinoma (HP:0012182) help

 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
..expandPapilloma (HP:0012740) help
..expandPeripheral Schwannoma (HP:0009593) help
..expandSeborrheic keratosis (HP:0031287) help
..expandSkin appendage neoplasm (HP:0012842) 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:0002860HP:0002860Squamous cell carcinoma0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM11311058604610
HP:0002860HP:0002860Squamous cell carcinoma0CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM12431787600160
HP:0002860HP:0002860Squamous cell carcinoma0CIB1 CL E G H10519618267618267618267OMIM116920602293
HP:0002860HP:0002860Squamous cell carcinoma0COL7A1 CL E G H129489842ORPHA18282214120120
HP:0002860HP:0002860Squamous cell carcinoma0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18282214120120
HP:0002860HP:0002860Squamous cell carcinoma0DCC CL E G H1630133239Malignant tumor of esophagus133239C0546837OMIM1412701120470
HP:0002860HP:0002860Squamous cell carcinoma0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752890300126
HP:0002860HP:0002860Squamous cell carcinoma0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11083434126340
HP:0002860HP:0002860Squamous cell carcinoma0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14104284121011
HP:0002860HP:0002860Squamous cell carcinoma0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14104284121011
HP:0002860HP:0002860Squamous cell carcinoma0ING1 CL E G H3621275355Squamous cell carcinoma of the head and neck275355C1168401OMIM16062601566
HP:0002860HP:0002860Squamous cell carcinoma0LZTS1 CL E G H11178133239Malignant tumor of esophagus133239C0546837OMIM1813861606551
HP:0002860HP:0002860Squamous cell carcinoma0NLRP1 CL E G H22861615225Palmoplantar carcinoma, multiple self-healing615225C3808876OMIM11814374606636
HP:0002860HP:0002860Squamous cell carcinoma0POLH CL E G H542990342ORPHA1809181603968
HP:0002860HP:0002860Squamous cell carcinoma0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1809181603968
HP:0002860HP:0002860Squamous cell carcinoma0RECQL4 CL E G H9401221016ORPHA11229949603780
HP:0002860HP:0002860Squamous cell carcinoma0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM11229949603780
HP:0002860HP:0002860Squamous cell carcinoma0RNF6 CL E G H6049133239Malignant tumor of esophagus133239C0546837OMIM1110069604242
HP:0002860HP:0002860Squamous cell carcinoma0TGFBR2 CL E G H7048133239Malignant tumor of esophagus133239C0546837OMIM114811773190182
HP:0002860HP:0002860Squamous cell carcinoma0TNFRSF10B CL E G H8795275355Squamous cell carcinoma of the head and neck275355C1168401OMIM1111905603612
HP:0002860HP:0002860Squamous cell carcinoma0WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM18413829606268
HP:0002860HP:0002860Squamous cell carcinoma0WRAP53 CL E G H55135613988Dyskeratosis congenita, autosomal recessive, 3613988C3151442OMIM1725522612661
HP:0002860HP:0002860Squamous cell carcinoma0WWOX CL E G H51741133239Malignant tumor of esophagus133239C0546837OMIM15012799605131
HP:0002860HP:0002860Squamous cell carcinoma1BLM CL E G H641210900Bloom syndrome210900C0005859OMIM11311058604610
HP:0002860HP:0002860Squamous cell carcinoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM12431787600160
HP:0002860HP:0002860Squamous cell carcinoma1CIB1 CL E G H10519618267618267618267OMIM116920602293
HP:0002860HP:0002860Squamous cell carcinoma1COL7A1 CL E G H129489842ORPHA18282214120120
HP:0002860HP:0002860Squamous cell carcinoma1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18282214120120
HP:0002860HP:0002860Squamous cell carcinoma1DCC CL E G H1630133239Malignant tumor of esophagus133239C0546837OMIM1412701120470
HP:0002860HP:0002860Squamous cell carcinoma1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752890300126
HP:0002860HP:0002860Squamous cell carcinoma1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11083434126340
HP:0002860HP:0002860Squamous cell carcinoma1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14104284121011
HP:0002860HP:0002860Squamous cell carcinoma1GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14104284121011
HP:0002860HP:0002860Squamous cell carcinoma1ING1 CL E G H3621275355Squamous cell carcinoma of the head and neck275355C1168401OMIM16062601566
HP:0002860HP:0002860Squamous cell carcinoma1LZTS1 CL E G H11178133239Malignant tumor of esophagus133239C0546837OMIM1813861606551
HP:0002860HP:0002860Squamous cell carcinoma1NLRP1 CL E G H22861615225Palmoplantar carcinoma, multiple self-healing615225C3808876OMIM11814374606636
HP:0002860HP:0002860Squamous cell carcinoma1POLH CL E G H542990342ORPHA1809181603968
HP:0002860HP:0002860Squamous cell carcinoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1809181603968
HP:0002860HP:0002860Squamous cell carcinoma1RECQL4 CL E G H9401221016ORPHA11229949603780
HP:0002860HP:0002860Squamous cell carcinoma1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM11229949603780
HP:0002860HP:0002860Squamous cell carcinoma1RNF6 CL E G H6049133239Malignant tumor of esophagus133239C0546837OMIM1110069604242
HP:0002860HP:0002860Squamous cell carcinoma1TGFBR2 CL E G H7048133239Malignant tumor of esophagus133239C0546837OMIM114811773190182
HP:0002860HP:0002860Squamous cell carcinoma1TNFRSF10B CL E G H8795275355Squamous cell carcinoma of the head and neck275355C1168401OMIM1111905603612
HP:0002860HP:0002860Squamous cell carcinoma1WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM18413829606268
HP:0002860HP:0002860Squamous cell carcinoma1WRAP53 CL E G H55135613988Dyskeratosis congenita, autosomal recessive, 3613988C3151442OMIM1725522612661
HP:0002860HP:0002860Squamous cell carcinoma1WWOX CL E G H51741133239Malignant tumor of esophagus133239C0546837OMIM15012799605131
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002860HP:0002860Squamous cell carcinoma0BLM CL E G H641125ORPHA01311058604610
HP:0002860HP:0002860Squamous cell carcinoma0CTSC CL E G H1075678ORPHA0962528602365
HP:0002860HP:0002860Squamous cell carcinoma0DOCK8 CL E G H81704217390ORPHA016919191611432
HP:0002860HP:0002860Squamous cell carcinoma0FDPS CL E G H222479152ORPHA063631134629
HP:0002860HP:0002860Squamous cell carcinoma0FERMT1 CL E G H556122908ORPHA08315889607900
HP:0002860HP:0002860Squamous cell carcinoma0MVD CL E G H459779152ORPHA0187529603236
HP:0002860HP:0002860Squamous cell carcinoma0MVK CL E G H459879152ORPHA01837530251170
HP:0002860HP:0002860Squamous cell carcinoma0NTHL1 CL E G H4913454840ORPHA048028602656
HP:0002860HP:0002860Squamous cell carcinoma0SLC17A9 CL E G H6391079152ORPHA0416192612107
HP:0002860HP:0002860Squamous cell carcinoma0SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM07223845613278
HP:0002860HP:0002860Squamous cell carcinoma0TMC6 CL E G H11322302ORPHA0818021605828
HP:0002860HP:0002860Squamous cell carcinoma0TMC8 CL E G H147138302ORPHA01120474605829
HP:0002860HP:0002860Squamous cell carcinoma0WNT10A CL E G H8032650944ORPHA08413829606268
HP:0002860HP:0002860Squamous cell carcinoma0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611
HP:0002860HP:0002860Squamous cell carcinoma1BLM CL E G H641125ORPHA01311058604610
HP:0002860HP:0002860Squamous cell carcinoma1CTSC CL E G H1075678ORPHA0962528602365
HP:0002860HP:0002860Squamous cell carcinoma1DOCK8 CL E G H81704217390ORPHA016919191611432
HP:0002860HP:0002860Squamous cell carcinoma1FDPS CL E G H222479152ORPHA063631134629
HP:0002860HP:0002860Squamous cell carcinoma1FERMT1 CL E G H556122908ORPHA08315889607900
HP:0002860HP:0002860Squamous cell carcinoma1MVD CL E G H459779152ORPHA0187529603236
HP:0002860HP:0002860Squamous cell carcinoma1MVK CL E G H459879152ORPHA01837530251170
HP:0002860HP:0002860Squamous cell carcinoma1NTHL1 CL E G H4913454840ORPHA048028602656
HP:0002860HP:0002860Squamous cell carcinoma1SLC17A9 CL E G H6391079152ORPHA0416192612107
HP:0002860HP:0002860Squamous cell carcinoma1SLX4 CL E G H84464613951Fanconi anemia, complementation group P613951C3469542OMIM07223845613278
HP:0002860HP:0002860Squamous cell carcinoma1TMC6 CL E G H11322302ORPHA0818021605828
HP:0002860HP:0002860Squamous cell carcinoma1TMC8 CL E G H147138302ORPHA01120474605829
HP:0002860HP:0002860Squamous cell carcinoma1WNT10A CL E G H8032650944ORPHA08413829606268
HP:0002860HP:0002860Squamous cell carcinoma1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611


Genes (55) :BLM BRD4 CDKN2A CIB1 COL7A1 CTSC DCC DDB2 DKC1 DOCK8 ERCC2 ERCC3 ERCC4 ERCC5 FDPS FERMT1 GJB2 GJB6 ING1 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LMNA LZTS1 MC1R MMP1 MVD MVK NLRP1 NTHL1 NUTM1 OCA2 POLH RECQL4 RNF6 RSPO1 SLC17A9 SLC45A2 SLX4 STAT1 TERC TERT TGFBR2 TINF2 TMC6 TMC8 TNFRSF10B TYR WNT10A WRAP53 WRN WWOX XPC

Diseases (46) :125 210900 606719 618267 89842 226600 678 133239 305000 217390 601675 79152 2908 602540 148210 275355 615225 454840 90342 278750 221016 268400 613951 302 50944 224750 613988 902 443167 79408 79409 278740 220295 610651 477 79396 79404 363618 79432 85112 79435 391487 127550 79431 79434 278720
 

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