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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal homeostasis (HP:0012337)

..Starting node
..Abnormal energy expenditure (HP:0012338)

Term ID:

12338

Name:

Abnormal energy expenditure

Synonym:

Abnormal energy expenditure

Definition:

Any anomaly in the utilization of energy (calories).

Comments:

Reference:

HP:0012338

Genes and Diseases:

Child Nodes:

........

Increased resting energy expenditure (HP:0012339)

........

Decreased resting energy expenditure (HP:0012340)

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:0012338	HP:0012338	Abnormal energy expenditure	0	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY		5
HP:0012338	HP:0012338	Abnormal energy expenditure	0	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY		1
HP:0012338	HP:0012338	Abnormal energy expenditure	0	AGRP CL E G H	181	330	OMIM:601665	OBESITY		1
HP:0012338	HP:0012338	Abnormal energy expenditure	0	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY		1
HP:0012338	HP:0012338	Abnormal energy expenditure	0	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY		151
HP:0012338	HP:0012338	Abnormal energy expenditure	0	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY		4
HP:0012338	HP:0012338	Abnormal energy expenditure	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0012338	HP:0012338	Abnormal energy expenditure	0	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY		4
HP:0012338	HP:0012338	Abnormal energy expenditure	0	POMC CL E G H	5443	9201	OMIM:601665	OBESITY		27
HP:0012338	HP:0012338	Abnormal energy expenditure	0	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY		42
HP:0012338	HP:0012338	Abnormal energy expenditure	0	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY		2
HP:0012338	HP:0012338	Abnormal energy expenditure	0	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY		6
HP:0012338	HP:0012339	Increased resting energy expenditure	1	CL E G H
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.	5
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.	1
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.	1
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.	1
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY	.	151
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY	.	4
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY	.	4
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	POMC CL E G H	5443	9201	OMIM:601665	OBESITY	.	27
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY	.	42
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY	.	2
HP:0012338	HP:0012340	Decreased resting energy expenditure	1	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY	.	6

Genes (12) :ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL NGLY1 NR0B2 POMC PPARG SDC3 UCP3

Diseases (2) :OMIM:601665 ORPHA:404454

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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