Human Phenotype Ontology

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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:
Growth abnormality (HP:0001507)

Parent Node:
Abnormality of body weight (HP:0004323)

..Starting node
..Abnormal waist to hip ratio (HP:0031818)

Term ID:

31818

Name:

Abnormal waist to hip ratio

Synonym:

Definition:

A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.

Comments:

Reference:

HP:0031818

Genes and Diseases:

Child Nodes:

........

Increased waist to hip ratio (HP:0031819)

........

Decreased waist to hip ratio (HP:0031820)

Sister Nodes:

Abnormality of body mass index (HP:0045081)

Decreased body weight (HP:0004325)

Increased body weight (HP:0004324)

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:0031818	HP:0031818	Abnormal waist to hip ratio	0	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent		245
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY		5
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY		1
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	AGRP CL E G H	181	330	OMIM:601665	OBESITY		1
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent		12
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY		1
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent		151
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY		151
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent		237
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY		4
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent		3
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent		161
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent		90
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent		138
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent		2
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent		5
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent		3
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent		127
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent		35
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent		4
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent		32
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY		4
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent		55
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent		30
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	POMC CL E G H	5443	9201	OMIM:601665	OBESITY		27
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent		42
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY		42
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent		12
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent		1
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY		2
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent		71
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent		3
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent		4
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY		6
HP:0031818	HP:0031818	Abnormal waist to hip ratio	0	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent		389
HP:0031818	HP:0031820	Decreased waist to hip ratio	1	CL E G H
HP:0031818	HP:0031819	Increased waist to hip ratio	1	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	245
HP:0031818	HP:0031819	Increased waist to hip ratio	1	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY		5
HP:0031818	HP:0031819	Increased waist to hip ratio	1	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY		1
HP:0031818	HP:0031819	Increased waist to hip ratio	1	AGRP CL E G H	181	330	OMIM:601665	OBESITY		1
HP:0031818	HP:0031819	Increased waist to hip ratio	1	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	12
HP:0031818	HP:0031819	Increased waist to hip ratio	1	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY		1
HP:0031818	HP:0031819	Increased waist to hip ratio	1	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	151
HP:0031818	HP:0031819	Increased waist to hip ratio	1	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY		151
HP:0031818	HP:0031819	Increased waist to hip ratio	1	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	237
HP:0031818	HP:0031819	Increased waist to hip ratio	1	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY		4
HP:0031818	HP:0031819	Increased waist to hip ratio	1	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0031818	HP:0031819	Increased waist to hip ratio	1	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0031818	HP:0031819	Increased waist to hip ratio	1	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	161
HP:0031818	HP:0031819	Increased waist to hip ratio	1	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	90
HP:0031818	HP:0031819	Increased waist to hip ratio	1	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	138
HP:0031818	HP:0031819	Increased waist to hip ratio	1	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0031818	HP:0031819	Increased waist to hip ratio	1	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	2
HP:0031818	HP:0031819	Increased waist to hip ratio	1	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	5
HP:0031818	HP:0031819	Increased waist to hip ratio	1	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0031818	HP:0031819	Increased waist to hip ratio	1	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	127
HP:0031818	HP:0031819	Increased waist to hip ratio	1	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	35
HP:0031818	HP:0031819	Increased waist to hip ratio	1	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0031818	HP:0031819	Increased waist to hip ratio	1	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	4
HP:0031818	HP:0031819	Increased waist to hip ratio	1	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	32
HP:0031818	HP:0031819	Increased waist to hip ratio	1	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY		4
HP:0031818	HP:0031819	Increased waist to hip ratio	1	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	55
HP:0031818	HP:0031819	Increased waist to hip ratio	1	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	30
HP:0031818	HP:0031819	Increased waist to hip ratio	1	POMC CL E G H	5443	9201	OMIM:601665	OBESITY		27
HP:0031818	HP:0031819	Increased waist to hip ratio	1	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	42
HP:0031818	HP:0031819	Increased waist to hip ratio	1	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY		42
HP:0031818	HP:0031819	Increased waist to hip ratio	1	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	12
HP:0031818	HP:0031819	Increased waist to hip ratio	1	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0031818	HP:0031819	Increased waist to hip ratio	1	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	1
HP:0031818	HP:0031819	Increased waist to hip ratio	1	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY		2
HP:0031818	HP:0031819	Increased waist to hip ratio	1	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	71
HP:0031818	HP:0031819	Increased waist to hip ratio	1	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	3
HP:0031818	HP:0031819	Increased waist to hip ratio	1	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	4
HP:0031818	HP:0031819	Increased waist to hip ratio	1	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY		6
HP:0031818	HP:0031819	Increased waist to hip ratio	1	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.	389

Genes (37) :ABCC8 ADRB2 ADRB3 AGRP AKT2 CARTPT ENPP1 GCK GHRL GPD2 HMGA1 HNF1A HNF1B HNF4A IGF2BP2 IL6 IRS1 IRS2 KCNJ11 LIPC MAPK8IP1 MTNR1B NEUROD1 NR0B2 PAX4 PDX1 POMC PPARG PPP1R3A PTPN1 RETN SDC3 SLC2A2 SLC30A8 TCF7L2 UCP3 WFS1

Diseases (2) :OMIM:125853 OMIM:601665

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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