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 thorax morphology (HP:0000765)

Parent Node:
Abnormal rib cage morphology (HP:0001547)

..Starting node
..Asymmetry of the thorax (HP:0001555)

Term ID:

1555

Name:

Asymmetry of the thorax

Synonym:

Asymmetric chest

Definition:

Lack of symmetry between the left and right halves of the thorax.

Comments:

Reference:

HP:0001555

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal facility in opposing the shoulders (HP:0005259)

Abnormal rib morphology (HP:0000772)

Bell-shaped thorax (HP:0001591)

Deformed rib cage (HP:0000886)

Enlarged thorax (HP:0100625)

Restricted chest movement (HP:0006596)

Thoracic dysplasia (HP:0006644)

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:0001555	HP:0001555	Asymmetry of the thorax	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0001555	HP:0001555	Asymmetry of the thorax	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional	34
HP:0001555	HP:0001555	Asymmetry of the thorax	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0001555	HP:0001555	Asymmetry of the thorax	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001555	HP:0001555	Asymmetry of the thorax	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent	4
HP:0001555	HP:0001555	Asymmetry of the thorax	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0001555	HP:0001555	Asymmetry of the thorax	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent	9
HP:0001555	HP:0001555	Asymmetry of the thorax	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent	1
HP:0001555	HP:0001555	Asymmetry of the thorax	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001555	HP:0001555	Asymmetry of the thorax	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0001555	HP:0001555	Asymmetry of the thorax	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37

Genes (11) :AKT1 AMER1 ANTXR1 CDC42BPB H19 HERC1 IGF2 KCNQ1OT1 MESD PTEN RMRP

Diseases (8) :ORPHA:744 ORPHA:2780 ORPHA:2067 OMIM:619841 ORPHA:2128 ORPHA:457359 OMIM:618644 OMIM:250250

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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