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 gastrointestinal tract (HP:0007378)

Parent Node:
Carcinoid tumor (HP:0100570)

Parent Node:
Neoplasm of the small intestine (HP:0100833)

..Starting node
..Small intestine carcinoid (HP:0006722)

Term ID:

6722

Name:

Small intestine carcinoid

Synonym:

Definition:

Comments:

Reference:

HP:0006722

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adenocarcinoma of the small intestine (HP:0040274)

Small intestinal polyp (HP:0012737)

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:0006722	HP:0006722	Small intestine carcinoid	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0006722	HP:0006722	Small intestine carcinoid	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0006722	HP:0006722	Small intestine carcinoid	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent	129

Genes (2) :APC SDHD

Diseases (3) :OMIM:175100 ORPHA:79665 ORPHA:100093

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