Human Phenotype Ontology 
Grandparent Node:
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Abnormal large intestine morphology (HP:0002250)help
Grandparent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
Parent Node:
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Abnormality of the anus (HP:0004378)help
Parent Node:
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Neoplasm of the large intestine (HP:0100834)help
..Starting node
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Anal canal neoplasm (HP:0030437)help
Term ID: 30437
Name: Anal canal neoplasm
Synonym: Anal canal tumor; Anal canal tumour
Definition:
Comments:
Reference: HP:0030437
Genes and Diseases:
 
       Child Nodes:
........expandAnal canal squamous carcinoma (HP:0006763) help
........expandAnal canal squamous cell carcinoma (HP:0030438) help
........expandAnal canal adenocarcinoma (HP:0030439) help

 Sister Nodes: 
..expandAdenocarcinoma of the large intestine (HP:0040275) help
..expandHereditary nonpolyposis colorectal carcinoma (HP:0006716) help
..expandNeoplasm of the colon (HP:0100273) help
..expandNeoplasm of the rectum (HP:0100743) 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:0030437HP:0030437Anal canal neoplasm0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiency217
HP:0030437HP:0030439Anal canal adenocarcinoma1 CL E G H
HP:0030437HP:0030438Anal canal squamous cell carcinoma1 CL E G H
HP:0030437HP:0006763Anal canal squamous carcinoma1DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040283 - Occasional217


Genes (1) :DOCK8

Diseases (1) :ORPHA:217390
 

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