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:
Abdominal symptom (HP:0011458)

Parent Node:
Abdominal distention (HP:0003270)

..Starting node
..Protuberant abdomen (HP:0001538)

Term ID:

1538

Name:

Protuberant abdomen

Synonym:

Abdominal protuberance; Belly sticks out; Extended belly

Definition:

A thrusting or bulging out of the abdomen.

Comments:

Reference:

HP:0001538

Genes and Diseases:

Child Nodes:

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:0001538	HP:0001538	Protuberant abdomen	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0001538	HP:0001538	Protuberant abdomen	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0001538	HP:0001538	Protuberant abdomen	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0001538	HP:0001538	Protuberant abdomen	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0001538	HP:0001538	Protuberant abdomen	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0001538	HP:0001538	Protuberant abdomen	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0001538	HP:0001538	Protuberant abdomen	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	41
HP:0001538	HP:0001538	Protuberant abdomen	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0001538	HP:0001538	Protuberant abdomen	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	5
HP:0001538	HP:0001538	Protuberant abdomen	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001538	HP:0001538	Protuberant abdomen	0	DLL3 CL E G H	10683	2909	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0001538	HP:0001538	Protuberant abdomen	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0001538	HP:0001538	Protuberant abdomen	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0001538	HP:0001538	Protuberant abdomen	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0001538	HP:0001538	Protuberant abdomen	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0001538	HP:0001538	Protuberant abdomen	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0001538	HP:0001538	Protuberant abdomen	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0001538	HP:0001538	Protuberant abdomen	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0001538	HP:0001538	Protuberant abdomen	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0001538	HP:0001538	Protuberant abdomen	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent	240
HP:0001538	HP:0001538	Protuberant abdomen	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0001538	HP:0001538	Protuberant abdomen	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0001538	HP:0001538	Protuberant abdomen	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0001538	HP:0001538	Protuberant abdomen	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0001538	HP:0001538	Protuberant abdomen	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001538	HP:0001538	Protuberant abdomen	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0001538	HP:0001538	Protuberant abdomen	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0001538	HP:0001538	Protuberant abdomen	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0001538	HP:0001538	Protuberant abdomen	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001538	HP:0001538	Protuberant abdomen	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001538	HP:0001538	Protuberant abdomen	0	MESP2 CL E G H	145873	29659	OMIM:277300	Spondylocostal dysostosis, autosomal recessive 1		45
HP:0001538	HP:0001538	Protuberant abdomen	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0001538	HP:0001538	Protuberant abdomen	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0001538	HP:0001538	Protuberant abdomen	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0001538	HP:0001538	Protuberant abdomen	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0001538	HP:0001538	Protuberant abdomen	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0001538	HP:0001538	Protuberant abdomen	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001538	HP:0001538	Protuberant abdomen	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0001538	HP:0001538	Protuberant abdomen	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0001538	HP:0001538	Protuberant abdomen	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent	110
HP:0001538	HP:0001538	Protuberant abdomen	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0001538	HP:0001538	Protuberant abdomen	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0001538	HP:0001538	Protuberant abdomen	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0001538	HP:0001538	Protuberant abdomen	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0001538	HP:0001538	Protuberant abdomen	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0001538	HP:0001538	Protuberant abdomen	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (40) :BMPER COL11A1 COL11A2 COL2A1 CYP27B1 CYP2R1 DLK1 DLL3 DYM FBN1 FGFR3 FLNB G6PC1 GBA1 GNE GNPTAB IDUA IFT122 IFT52 INPPL1 KAT6A KIAA0753 LBR LIPA MEG3 MESP2 MTOR NKX3-2 PSAT1 PSMB8 PTH1R RTL1 SLC26A2 SLC35D1 SLC37A4 SMARCAL1 SMPD1 TRIP11 TXNDC15 VDR

Diseases (42) :OMIM:608022 OMIM:228520 OMIM:614524 OMIM:200610 OMIM:151210 OMIM:184250 ORPHA:289157 OMIM:264700 ORPHA:96334 OMIM:277300 ORPHA:239 OMIM:608328 OMIM:187600 OMIM:108720 OMIM:232200 OMIM:230900 OMIM:269921 OMIM:252500 ORPHA:576 OMIM:607014 OMIM:218330 OMIM:617102 OMIM:258480 OMIM:616268 OMIM:619479 OMIM:215140 OMIM:618019 OMIM:278000 ORPHA:457485 OMIM:613330 OMIM:616038 OMIM:256040 ORPHA:50945 ORPHA:56304 OMIM:269250 ORPHA:79259 OMIM:232220 OMIM:242900 OMIM:257200 OMIM:200600 OMIM:619879 OMIM:277440

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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