Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the skin (HP:0008069)help
Parent Node:
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Squamous cell carcinoma (HP:0002860)help
..Starting node
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Squamous cell carcinoma of the skin (HP:0006739)help
Term ID: 6739
Name: Squamous cell carcinoma of the skin
Synonym: Squamous skin carcinoma
Definition: Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.
Comments:
Reference: HP:0006739
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandOropharyngeal squamous cell carcinoma (HP:0012182) 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:0006739HP:0006739Squamous cell carcinoma of the skin0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0006739HP:0006739Squamous cell carcinoma of the skin0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent106
HP:0006739HP:0006739Squamous cell carcinoma of the skin0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0006739HP:0006739Squamous cell carcinoma of the skin0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent54
HP:0006739HP:0006739Squamous cell carcinoma of the skin0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent158
HP:0006739HP:0006739Squamous cell carcinoma of the skin0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent83
HP:0006739HP:0006739Squamous cell carcinoma of the skin0IL7 CL E G H35746023OMIM:618309EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0006739HP:0006739Squamous cell carcinoma of the skin0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040284 - Very rare110
HP:0006739HP:0006739Squamous cell carcinoma of the skin0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040284 - Very rare173
HP:0006739HP:0006739Squamous cell carcinoma of the skin0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0006739HP:0006739Squamous cell carcinoma of the skin0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional124
HP:0006739HP:0006739Squamous cell carcinoma of the skin0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional121
HP:0006739HP:0006739Squamous cell carcinoma of the skin0RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromeHP:0040281 - Very frequent3
HP:0006739HP:0006739Squamous cell carcinoma of the skin0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0006739HP:0006739Squamous cell carcinoma of the skin0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0006739HP:0006739Squamous cell carcinoma of the skin0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0006739HP:0006739Squamous cell carcinoma of the skin0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0006739HP:0006739Squamous cell carcinoma of the skin0TMC8 CL E G H14713820474OMIM:618231EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV24
HP:0006739HP:0006739Squamous cell carcinoma of the skin0TYMS CL E G H729812441OMIM:6200401
HP:0006739HP:0006739Squamous cell carcinoma of the skin0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040283 - Occasional146
HP:0006739HP:0006739Squamous cell carcinoma of the skin0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040283 - Occasional146
HP:0006739HP:0006739Squamous cell carcinoma of the skin0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86


Genes (20) :DDB2 ERCC2 ERCC3 ERCC4 ERCC5 IL7 KRT14 KRT5 LMNA MC1R OCA2 RSPO1 SMARCAD1 TERC TERT TINF2 TMC8 TYMS TYR XPC

Diseases (15) :OMIM:278740 ORPHA:220295 OMIM:610651 OMIM:618309 ORPHA:79396 ORPHA:363618 ORPHA:79432 ORPHA:85112 OMIM:181600 OMIM:127550 OMIM:618231 OMIM:620040 ORPHA:79431 ORPHA:79434 OMIM:278720
 

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