Human Phenotype Ontology

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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:
Neoplasm (HP:0002664)

Parent Node:
Neoplasm by histology (HP:0011792)

..Starting node
..Epithelial neoplasm (HP:0031492)

Term ID:

31492

Name:

Epithelial neoplasm

Synonym:

Definition:

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].

Comments:

Reference:

HP:0031492

Genes and Diseases:

Child Nodes:

........

Carcinoma (HP:0030731)

........

Glandular cell neoplasm (HP:0031493)

................... HP:0031495 Mucinous neoplasm

Sister Nodes:

Embryonal neoplasm (HP:0002898)

Fibrous tissue neoplasm (HP:0012316)

Hamartoma (HP:0010566)

Melanoma (HP:0002861)

Nervous tissue neoplasm (HP:0030060)

Sarcoma (HP:0100242)

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:0031492	HP:0031492	Epithelial neoplasm	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0031492	HP:0031492	Epithelial neoplasm	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0031492	HP:0031492	Epithelial neoplasm	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0031492	HP:0031492	Epithelial neoplasm	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0031492	HP:0031492	Epithelial neoplasm	0	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10		731
HP:0031492	HP:0031492	Epithelial neoplasm	0	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12		1129
HP:0031492	HP:0031492	Epithelial neoplasm	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0031492	HP:0031492	Epithelial neoplasm	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0031492	HP:0031493	Glandular cell neoplasm	1	CL E G H
HP:0031492	HP:0030731	Carcinoma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0031492	HP:0030731	Carcinoma	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.	102
HP:0031492	HP:0030731	Carcinoma	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0031492	HP:0030731	Carcinoma	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.	37
HP:0031492	HP:0030731	Carcinoma	1	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10	.	731
HP:0031492	HP:0030731	Carcinoma	1	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12	.	1129
HP:0031492	HP:0030731	Carcinoma	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0031492	HP:0030731	Carcinoma	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0031492	HP:0031495	Mucinous neoplasm	2	CL E G H
HP:0031492	HP:0031497	Mucinous colorectal carcinoma	3	CL E G H
HP:0031492	HP:0031496	Mucinous cystic neoplasm of the pancreas	3	CL E G H
HP:0031492	HP:0031494	Ovarian mucinous tumor	3	CL E G H
HP:0031492	HP:0031499	Appendiceal mucinous neoplasm	3	CL E G H
HP:0031492	HP:0031498	Mucinous gastric carcinoma	3	CL E G H

Genes (8) :APC CDKN1B DKC1 NLRP1 POLD1 POLE PTEN RSPO1

Diseases (8) :OMIM:175100 OMIM:610755 OMIM:305000 OMIM:615225 OMIM:612591 OMIM:615083 OMIM:158350 OMIM:610644

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

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