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 by histology (HP:0011792)

Parent Node:
Epithelial neoplasm (HP:0031492)

..Starting node
..Carcinoma (HP:0030731)

Term ID:

30731

Name:

Carcinoma

Synonym:

Definition:

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).

Comments:

Reference:

HP:0030731

Genes and Diseases:

Child Nodes:

Sister Nodes:

Glandular cell neoplasm (HP:0031493)

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

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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