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:
Abnormal rib cage morphology (HP:0001547)

Parent Node:
Enlarged thorax (HP:0100625)

..Starting node
..Barrel-shaped chest (HP:0001552)

Term ID:

1552

Name:

Barrel-shaped chest

Synonym:

Barrel chest; Barrel-shaped chest

Definition:

A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.

Comments:

Reference:

HP:0001552

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased anterioposterior diameter of thorax (HP:0005253)

Long thorax (HP:0100818)

Shield chest (HP:0000914)

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:0001552	HP:0001552	Barrel-shaped chest	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0001552	HP:0001552	Barrel-shaped chest	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0001552	HP:0001552	Barrel-shaped chest	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001552	HP:0001552	Barrel-shaped chest	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0001552	HP:0001552	Barrel-shaped chest	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0001552	HP:0001552	Barrel-shaped chest	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0001552	HP:0001552	Barrel-shaped chest	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0001552	HP:0001552	Barrel-shaped chest	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional	284
HP:0001552	HP:0001552	Barrel-shaped chest	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0001552	HP:0001552	Barrel-shaped chest	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0001552	HP:0001552	Barrel-shaped chest	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0001552	HP:0001552	Barrel-shaped chest	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0001552	HP:0001552	Barrel-shaped chest	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0001552	HP:0001552	Barrel-shaped chest	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0001552	HP:0001552	Barrel-shaped chest	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001552	HP:0001552	Barrel-shaped chest	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001552	HP:0001552	Barrel-shaped chest	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0001552	HP:0001552	Barrel-shaped chest	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0001552	HP:0001552	Barrel-shaped chest	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	HP:0040284 - Very rare	166
HP:0001552	HP:0001552	Barrel-shaped chest	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0001552	HP:0001552	Barrel-shaped chest	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0001552	HP:0001552	Barrel-shaped chest	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0001552	HP:0001552	Barrel-shaped chest	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0001552	HP:0001552	Barrel-shaped chest	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent	46
HP:0001552	HP:0001552	Barrel-shaped chest	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0001552	HP:0001552	Barrel-shaped chest	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0001552	HP:0001552	Barrel-shaped chest	0	TRPV4 CL E G H	59341	18083	OMIM:113500	Brachyolmia type 3	.	214
HP:0001552	HP:0001552	Barrel-shaped chest	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0001552	HP:0001552	Barrel-shaped chest	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13

Genes (22) :ACAN ACP5 CHST3 CILK1 COL2A1 DYM EIF2AK3 FUCA1 HRAS KDELR2 LBR LRP5 MYH3 P3H1 RAB33B RMRP TNFRSF11B TRAPPC2 TRIP11 TRPV4 VPS33A WNT7A

Diseases (29) :ORPHA:171866 OMIM:612813 OMIM:607944 ORPHA:263463 OMIM:143095 OMIM:612651 OMIM:200610 ORPHA:94068 OMIM:183900 OMIM:271700 OMIM:223800 OMIM:607326 OMIM:226980 OMIM:230000 OMIM:218040 OMIM:619131 OMIM:215140 OMIM:259770 OMIM:178110 OMIM:610915 OMIM:615222 OMIM:607095 OMIM:239000 ORPHA:93284 OMIM:313400 OMIM:200600 OMIM:113500 ORPHA:505248 OMIM:276820

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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