Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal circulating hormone concentration (HP:0003117)

Parent Node:
Abnormal glucagon level (HP:0030687)

..Starting node
..Increased glucagon level (HP:0030688)

Term ID:

30688

Name:

Increased glucagon level

Synonym:

Definition:

An elevated concentration of glucagon in the blood circulation.

Comments:

Reference:

HP:0030688

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased glucagon level (HP:0030689)

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:0030688	HP:0030688	Increased glucagon level	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0030688	HP:0030688	Increased glucagon level	0	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia	HP:0040280 - Obligate	1
HP:0030688	HP:0030688	Increased glucagon level	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1

Genes (2) :CDKN1B GCGR

Diseases (3) :ORPHA:276152 ORPHA:438274 OMIM:619290

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