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:
Increased body weight (HP:0004324)

Parent Node:
Obesity (HP:0001513)

..Starting node
..Truncal obesity (HP:0001956)

Term ID:

1956

Name:

Truncal obesity

Synonym:

Centripetal obesity; Truncal obesity

Definition:

Obesity located preferentially in the trunk of the body as opposed to the extremities.

Comments:

Reference:

HP:0001956

Genes and Diseases:

Child Nodes:

........

Childhood-onset truncal obesity (HP:0008915)

Sister Nodes:

Abdominal obesity (HP:0012743)

Class I obesity (HP:0025499)

Class II obesity (HP:0025500)

Class III obesity (HP:0025501)

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:0001956	HP:0001956	Truncal obesity	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0001956	HP:0001956	Truncal obesity	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0001956	HP:0001956	Truncal obesity	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.	12
HP:0001956	HP:0001956	Truncal obesity	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0001956	HP:0001956	Truncal obesity	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0001956	HP:0001956	Truncal obesity	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0001956	HP:0001956	Truncal obesity	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	169
HP:0001956	HP:0001956	Truncal obesity	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0001956	HP:0001956	Truncal obesity	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0001956	HP:0001956	Truncal obesity	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent	2
HP:0001956	HP:0001956	Truncal obesity	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	276
HP:0001956	HP:0001956	Truncal obesity	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001956	HP:0001956	Truncal obesity	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0001956	HP:0001956	Truncal obesity	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	636
HP:0001956	HP:0001956	Truncal obesity	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001956	HP:0001956	Truncal obesity	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0001956	HP:0001956	Truncal obesity	0	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.	7
HP:0001956	HP:0001956	Truncal obesity	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001956	HP:0001956	Truncal obesity	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040282 - Frequent	30
HP:0001956	HP:0001956	Truncal obesity	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent	98
HP:0001956	HP:0001956	Truncal obesity	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001956	HP:0001956	Truncal obesity	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001956	HP:0001956	Truncal obesity	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0001956	HP:0001956	Truncal obesity	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0001956	HP:0001956	Truncal obesity	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0001956	HP:0001956	Truncal obesity	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0001956	HP:0001956	Truncal obesity	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional	91
HP:0001956	HP:0001956	Truncal obesity	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0001956	HP:0001956	Truncal obesity	0	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040282 - Frequent	53
HP:0001956	HP:0001956	Truncal obesity	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome		111
HP:0001956	HP:0001956	Truncal obesity	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent	111
HP:0001956	HP:0001956	Truncal obesity	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0001956	HP:0001956	Truncal obesity	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent	93
HP:0001956	HP:0001956	Truncal obesity	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0001956	HP:0001956	Truncal obesity	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency		54
HP:0001956	HP:0001956	Truncal obesity	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0001956	HP:0001956	Truncal obesity	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0001956	HP:0001956	Truncal obesity	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	79
HP:0001956	HP:0001956	Truncal obesity	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0001956	HP:0001956	Truncal obesity	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0001956	HP:0001956	Truncal obesity	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency		65
HP:0001956	HP:0001956	Truncal obesity	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0001956	HP:0001956	Truncal obesity	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0001956	HP:0001956	Truncal obesity	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0001956	HP:0001956	Truncal obesity	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency		27
HP:0001956	HP:0001956	Truncal obesity	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0001956	HP:0001956	Truncal obesity	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040281 - Very frequent	4
HP:0001956	HP:0001956	Truncal obesity	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0001956	HP:0001956	Truncal obesity	0	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0001956	HP:0001956	Truncal obesity	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001956	HP:0001956	Truncal obesity	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0001956	HP:0001956	Truncal obesity	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0001956	HP:0001956	Truncal obesity	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0001956	HP:0001956	Truncal obesity	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0001956	HP:0001956	Truncal obesity	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0001956	HP:0001956	Truncal obesity	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	911
HP:0001956	HP:0001956	Truncal obesity	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional	158
HP:0001956	HP:0001956	Truncal obesity	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	1
HP:0001956	HP:0001956	Truncal obesity	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	7
HP:0001956	HP:0001956	Truncal obesity	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0001956	HP:0001956	Truncal obesity	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0001956	HP:0001956	Truncal obesity	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	HP:0040283 - Occasional	9
HP:0001956	HP:0001956	Truncal obesity	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001956	HP:0001956	Truncal obesity	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional	14
HP:0001956	HP:0001956	Truncal obesity	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0001956	HP:0008915	Childhood-onset truncal obesity	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.	111
HP:0001956	HP:0008915	Childhood-onset truncal obesity	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040282 - Frequent	54
HP:0001956	HP:0008915	Childhood-onset truncal obesity	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent	65
HP:0001956	HP:0008915	Childhood-onset truncal obesity	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent	27
HP:0001956	HP:0008915	Childhood-onset truncal obesity	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546

Genes (57) :ADNP AKT2 ALMS1 ARL6 ATRX BBS1 BBS9 BPTF BRAF BRD4 CCDC28B CDH23 CREBBP DLK1 DYRK1B EP300 FMR1 GHR GJA5 GJA8 GNAS HDAC8 IGF1 IGF1R IGFALS INPP5E LAS1L MAN1B1 MC4R MEG3 NIPBL NR3C1 PCNT PCSK1 PDE11A PHF6 PIGA POMC PRKAR1A PSMD12 RAD21 RNPC3 RTL1 SLC10A7 SLC7A7 SMC1A SMC3 THOC2 TP53 TRAPPC9 USP48 USP8 VPS13B WAC XRCC4 XYLT1 ZBTB20

Diseases (46) :ORPHA:404448 ORPHA:293964 OMIM:240900 ORPHA:64 OMIM:203800 OMIM:209900 ORPHA:96253 OMIM:615986 ORPHA:529962 ORPHA:199 OMIM:180849 ORPHA:96184 OMIM:615812 ORPHA:261483 ORPHA:633 OMIM:612474 OMIM:219080 OMIM:300882 ORPHA:3459 ORPHA:73272 OMIM:270450 ORPHA:140941 OMIM:610156 ORPHA:75858 ORPHA:397941 OMIM:614202 ORPHA:71529 ORPHA:2637 OMIM:210720 ORPHA:71528 OMIM:610475 ORPHA:127 OMIM:301072 ORPHA:71526 OMIM:610489 OMIM:618160 OMIM:618363 OMIM:222700 OMIM:300957 OMIM:613192 OMIM:216550 ORPHA:466950 OMIM:616541 OMIM:615777 ORPHA:370930 OMIM:259050

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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