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 of the endocrine system (HP:0100568)

Grandparent Node:
Neoplasm of the peripheral nervous system (HP:0100007)

Parent Node:
Neuroendocrine neoplasm (HP:0100634)

..Starting node
..Carcinoid tumor (HP:0100570)

Term ID:

100570

Name:

Carcinoid tumor

Synonym:

Carcinoid; Carcinoid tumors; Carcinoid tumour; Carcinoid tumours

Definition:

A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.

Comments:

Reference:

HP:0100570

Genes and Diseases:

Child Nodes:

........

Small intestine carcinoid (HP:0006722)

........

Intestinal carcinoid (HP:0006723)

........

Pulmonary carcinoid tumor (HP:0030445)

................... HP:0030446 Atypical pulmonary carcinoid tumor

Sister Nodes:

Pancreatic endocrine tumor (HP:0030405)

Paraganglioma (HP:0002668)

Pheochromocytoma (HP:0002666)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100570	HP:0100570	Carcinoid tumor	0	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	596	1785	600778
HP:0100570	HP:0100570	Carcinoid tumor	0	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	507	1785	600778
HP:0100570	HP:0100570	Carcinoid tumor	0	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1559	7010	613733
HP:0100570	HP:0100570	Carcinoid tumor	0	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1411	7010	613733
HP:0100570	HP:0006722	Small intestine carcinoid	1	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	596	1785	600778
HP:0100570	HP:0006722	Small intestine carcinoid	1	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	507	1785	600778
HP:0100570	HP:0006723	Intestinal carcinoid	1	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	596	1785	600778
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	596	1785	600778
HP:0100570	HP:0006723	Intestinal carcinoid	1	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	507	1785	600778
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	507	1785	600778
HP:0100570	HP:0006723	Intestinal carcinoid	1	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1559	7010	613733
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1559	7010	613733
HP:0100570	HP:0006723	Intestinal carcinoid	1	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1411	7010	613733
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1411	7010	613733
HP:0100570	HP:0006722	Small intestine carcinoid	1	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1559	7010	613733
HP:0100570	HP:0006722	Small intestine carcinoid	1	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1411	7010	613733
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	596	1785	600778
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	CDKN1B CL E G H	1027	610755	Multiple endocrine neoplasia, type 4	610755	C1970712	OMIM	1	507	1785	600778
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1559	7010	613733
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1411	7010	613733
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100570	HP:0100570	Carcinoid tumor	0	CDKN1A CL E G H	1026	652	Amebiasis			ORPHA	0	16	1784	116899
HP:0100570	HP:0100570	Carcinoid tumor	0	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	507	1785	600778
HP:0100570	HP:0100570	Carcinoid tumor	0	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	596	1785	600778
HP:0100570	HP:0100570	Carcinoid tumor	0	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	101	1788	600431
HP:0100570	HP:0100570	Carcinoid tumor	0	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	99	1788	600431
HP:0100570	HP:0100570	Carcinoid tumor	0	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	16	1789	603369
HP:0100570	HP:0100570	Carcinoid tumor	0	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	17	1789	603369
HP:0100570	HP:0100570	Carcinoid tumor	0	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1559	7010	613733
HP:0100570	HP:0100570	Carcinoid tumor	0	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1411	7010	613733
HP:0100570	HP:0006722	Small intestine carcinoid	1	CDKN1A CL E G H	1026	652	Amebiasis			ORPHA	0	16	1784	116899
HP:0100570	HP:0006723	Intestinal carcinoid	1	CDKN1A CL E G H	1026	652	Amebiasis			ORPHA	0	16	1784	116899
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	CDKN1A CL E G H	1026	652	Amebiasis			ORPHA	0	16	1784	116899
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	507	1785	600778
HP:0100570	HP:0006723	Intestinal carcinoid	1	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	507	1785	600778
HP:0100570	HP:0006722	Small intestine carcinoid	1	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	596	1785	600778
HP:0100570	HP:0006722	Small intestine carcinoid	1	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	507	1785	600778
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	596	1785	600778
HP:0100570	HP:0006723	Intestinal carcinoid	1	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	596	1785	600778
HP:0100570	HP:0006722	Small intestine carcinoid	1	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	99	1788	600431
HP:0100570	HP:0006723	Intestinal carcinoid	1	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	101	1788	600431
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	101	1788	600431
HP:0100570	HP:0006723	Intestinal carcinoid	1	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	99	1788	600431
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	99	1788	600431
HP:0100570	HP:0006722	Small intestine carcinoid	1	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	101	1788	600431
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	16	1789	603369
HP:0100570	HP:0006723	Intestinal carcinoid	1	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	16	1789	603369
HP:0100570	HP:0006722	Small intestine carcinoid	1	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	17	1789	603369
HP:0100570	HP:0006722	Small intestine carcinoid	1	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	16	1789	603369
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	17	1789	603369
HP:0100570	HP:0006723	Intestinal carcinoid	1	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	17	1789	603369
HP:0100570	HP:0006722	Small intestine carcinoid	1	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1411	7010	613733
HP:0100570	HP:0006723	Intestinal carcinoid	1	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1559	7010	613733
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1559	7010	613733
HP:0100570	HP:0006723	Intestinal carcinoid	1	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1411	7010	613733
HP:0100570	HP:0030445	Pulmonary carcinoid tumor	1	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1411	7010	613733
HP:0100570	HP:0006722	Small intestine carcinoid	1	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1559	7010	613733
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	CDKN1A CL E G H	1026	652	Amebiasis			ORPHA	0	16	1784	116899
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	596	1785	600778
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	0	507	1785	600778
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	99	1788	600431
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	0	101	1788	600431
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	17	1789	603369
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	0	16	1789	603369
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1411	7010	613733
HP:0100570	HP:0030446	Atypical pulmonary carcinoid tumor	2	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	0	1559	7010	613733

Genes (10) :APC ATRX CDKN1A CDKN1B CDKN2B CDKN2C DAXX LMNA MEN1 SDHD

Diseases (9) :652 610755 131100 79665 175100 276152 363618 100093 100075

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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