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:
Obesity (HP:0001513)

Parent Node:
Truncal obesity (HP:0001956)

..Starting node
..Childhood-onset truncal obesity (HP:0008915)

Term ID:

8915

Name:

Childhood-onset truncal obesity

Synonym:

Truncal obesity apparent in childhood

Definition:

Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.

Comments:

Reference:

HP:0008915

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008915	HP:0008915	Childhood-onset truncal obesity	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.	111
HP:0008915	HP:0008915	Childhood-onset truncal obesity	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040282 - Frequent	54
HP:0008915	HP:0008915	Childhood-onset truncal obesity	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent	65
HP:0008915	HP:0008915	Childhood-onset truncal obesity	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent	27
HP:0008915	HP:0008915	Childhood-onset truncal obesity	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546

Genes (5) :INPP5E MC4R PCSK1 POMC VPS13B

Diseases (5) :OMIM:610156 ORPHA:71529 ORPHA:71528 ORPHA:71526 OMIM:216550

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