Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the anus (HP:0004378)

Grandparent Node:
Neoplasm of the large intestine (HP:0100834)

Parent Node:
Anal canal neoplasm (HP:0030437)

..Starting node
..Anal canal squamous carcinoma (HP:0006763)

Term ID:

6763

Name:

Anal canal squamous carcinoma

Synonym:

Definition:

Comments:

Reference:

HP:0006763

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anal canal adenocarcinoma (HP:0030439)

Anal canal squamous cell carcinoma (HP:0030438)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006763	HP:0006763	Anal canal squamous carcinoma	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040283 - Occasional	217

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.