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:
Abnormal circulating hormone concentration (HP:0003117)

Parent Node:
Abnormal circulating leptin concentration (HP:0004361)

..Starting node
..Decreased serum leptin (HP:0003292)

Term ID:

3292

Name:

Decreased serum leptin

Synonym:

Decreased serum leptin; Reduced circulating leptin level

Definition:

A decreased concentration of leptin in the blood.

Comments:

Reference:

HP:0003292

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased serum leptin (HP:0031793)

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:0003292	HP:0003292	Decreased serum leptin	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0003292	HP:0003292	Decreased serum leptin	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0003292	HP:0003292	Decreased serum leptin	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0003292	HP:0003292	Decreased serum leptin	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0003292	HP:0003292	Decreased serum leptin	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0003292	HP:0003292	Decreased serum leptin	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0003292	HP:0003292	Decreased serum leptin	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0003292	HP:0003292	Decreased serum leptin	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040280 - Obligate	47
HP:0003292	HP:0003292	Decreased serum leptin	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040280 - Obligate	46
HP:0003292	HP:0003292	Decreased serum leptin	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0003292	HP:0003292	Decreased serum leptin	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0003292	HP:0003292	Decreased serum leptin	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0003292	HP:0003292	Decreased serum leptin	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83

Genes (10) :AGPAT2 AKT2 BANF1 BSCL2 CIDEC LEP LEPR LIPE LMNA ZMPSTE24

Diseases (12) :OMIM:608594 ORPHA:79085 OMIM:614008 OMIM:269700 ORPHA:435651 OMIM:615238 OMIM:614962 ORPHA:66628 ORPHA:179494 ORPHA:435660 ORPHA:280365 ORPHA:740

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

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