Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the anus (HP:0004378)help
Parent Node:
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Anal margin neoplasm (HP:0030440)help
..Starting node
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Anal margin squamous cell carcinoma (HP:0030442)help
Term ID: 30442
Name: Anal margin squamous cell carcinoma
Synonym:
Definition: A squamous cell carcinoma that originates in the skin of the anal margin.
Comments:
Reference: HP:0030442
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnal margin basal cell carcinoma (HP:0030443) help
..expandAnal margin melanoma (HP:0030444) help
..expandAnal margin Paget's disease (HP:0030441) 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:0030442HP:0030442Anal margin squamous cell carcinoma0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare173
HP:0030442HP:0030442Anal margin squamous cell carcinoma0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2
HP:0030442HP:0030442Anal margin squamous cell carcinoma0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare6
HP:0030442HP:0030442Anal margin squamous cell carcinoma0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040284 - Very rare2


Genes (4) :KRT5 POFUT1 POGLUT1 PSENEN

Diseases (1) :ORPHA:79145
 

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