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:
Neuroendocrine neoplasm (HP:0100634)

Parent Node:
Pancreatic endocrine tumor (HP:0030405)

..Starting node
..Glucagonoma (HP:0030404)

Term ID:

30404

Name:

Glucagonoma

Synonym:

Definition:

An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.

Comments:

Reference:

HP:0030404

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pancreatic islet cell adenoma (HP:0008261)

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:0030404	HP:0030404	Glucagonoma	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0030404	HP:0030404	Glucagonoma	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0030404	HP:0030404	Glucagonoma	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0030404	HP:0030404	Glucagonoma	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0030404	HP:0030404	Glucagonoma	0	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia	HP:0040282 - Frequent	1
HP:0030404	HP:0030404	Glucagonoma	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0030404	HP:0030404	Glucagonoma	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462

Genes (6) :CDKN1A CDKN1B CDKN2B CDKN2C GCGR MEN1

Diseases (3) :ORPHA:652 ORPHA:438274 OMIM:131100

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