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
..Abdominal obesity (HP:0012743)

Term ID:

12743

Name:

Abdominal obesity

Synonym:

Abdominal obesity; Central obesity

Definition:

Excessive fat around the stomach and abdomen.

Comments:

Reference:

HP:0012743

Genes and Diseases:

Child Nodes:

Sister Nodes:

Class I obesity (HP:0025499)

Class II obesity (HP:0025500)

Class III obesity (HP:0025501)

Truncal obesity (HP:0001956)

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:0012743	HP:0012743	Abdominal obesity	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0012743	HP:0012743	Abdominal obesity	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0012743	HP:0012743	Abdominal obesity	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	HP:0040283 - Occasional	7
HP:0012743	HP:0012743	Abdominal obesity	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0012743	HP:0012743	Abdominal obesity	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0012743	HP:0012743	Abdominal obesity	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0012743	HP:0012743	Abdominal obesity	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0012743	HP:0012743	Abdominal obesity	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0012743	HP:0012743	Abdominal obesity	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0012743	HP:0012743	Abdominal obesity	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0012743	HP:0012743	Abdominal obesity	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0012743	HP:0012743	Abdominal obesity	0	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.	7
HP:0012743	HP:0012743	Abdominal obesity	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0012743	HP:0012743	Abdominal obesity	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.	38
HP:0012743	HP:0012743	Abdominal obesity	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0012743	HP:0012743	Abdominal obesity	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.	7
HP:0012743	HP:0012743	Abdominal obesity	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0012743	HP:0012743	Abdominal obesity	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.	63
HP:0012743	HP:0012743	Abdominal obesity	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.	5
HP:0012743	HP:0012743	Abdominal obesity	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0012743	HP:0012743	Abdominal obesity	0	MTTP CL E G H	4547	7467	OMIM:605552	Abdominal obesity-metabolic syndrome 1	.	81
HP:0012743	HP:0012743	Abdominal obesity	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0012743	HP:0012743	Abdominal obesity	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.	1
HP:0012743	HP:0012743	Abdominal obesity	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0012743	HP:0012743	Abdominal obesity	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012743	HP:0012743	Abdominal obesity	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0012743	HP:0012743	Abdominal obesity	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0012743	HP:0012743	Abdominal obesity	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0012743	HP:0012743	Abdominal obesity	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012743	HP:0012743	Abdominal obesity	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0012743	HP:0012743	Abdominal obesity	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0012743	HP:0012743	Abdominal obesity	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0012743	HP:0012743	Abdominal obesity	0	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0012743	HP:0012743	Abdominal obesity	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0012743	HP:0012743	Abdominal obesity	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0012743	HP:0012743	Abdominal obesity	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0012743	HP:0012743	Abdominal obesity	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0012743	HP:0012743	Abdominal obesity	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0012743	HP:0012743	Abdominal obesity	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0012743	HP:0012743	Abdominal obesity	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0012743	HP:0012743	Abdominal obesity	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF

Genes (36) :AIP ARL6 ARMC5 ATRX BBS1 BLM BRAF CCDC28B CDH23 CUL4B DYRK1B GNAS HERC2 IPW LIPE MAGEL2 MKRN3 MKRN3-AS1 MTTP NKAP NPAP1 NR3C1 PDE11A PDE8B PRKACA PRKAR1A PWAR1 PWRN1 RNPC3 SIM1 SNORD115-1 SNORD116-1 TP53 USP48 USP8 ZPR1

Diseases (18) :OMIM:219090 OMIM:209900 OMIM:615954 ORPHA:189427 ORPHA:96253 ORPHA:125 OMIM:300354 OMIM:615812 OMIM:176270 OMIM:615980 ORPHA:398069 OMIM:605552 OMIM:301039 ORPHA:1359 ORPHA:189439 OMIM:618160 ORPHA:398079 OMIM:619321

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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