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 cardiac ventricle morphology (HP:0001713)

Parent Node:
Abnormal right ventricle morphology (HP:0001707)

..Starting node
..Cor pulmonale (HP:0001648)

Term ID:

1648

Name:

Cor pulmonale

Synonym:

Definition:

Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.

Comments:

Reference:

HP:0001648

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anomalous muscle bundle of the right ventricle (HP:0030740)

Hypoplasia of right ventricle (HP:0004762)

Right ventricular dilatation (HP:0005133)

Right ventricular hypertrophy (HP:0001667)

Right ventricular outlet tract obstruction (HP:0001705)

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:0001648	HP:0001648	Cor pulmonale	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0001648	HP:0001648	Cor pulmonale	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0001648	HP:0001648	Cor pulmonale	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0001648	HP:0001648	Cor pulmonale	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0001648	HP:0001648	Cor pulmonale	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0001648	HP:0001648	Cor pulmonale	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001648	HP:0001648	Cor pulmonale	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0001648	HP:0001648	Cor pulmonale	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001648	HP:0001648	Cor pulmonale	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0001648	HP:0001648	Cor pulmonale	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0001648	HP:0001648	Cor pulmonale	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0001648	HP:0001648	Cor pulmonale	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0001648	HP:0001648	Cor pulmonale	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0001648	HP:0001648	Cor pulmonale	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108

Genes (14) :ACTA1 BTK CFTR FCGR2A FLNA HACD1 ITGA7 MAP3K20 MYL2 SELENON SREBF1 TGFB1 TPM2 TPM3

Diseases (5) :ORPHA:2020 OMIM:300755 OMIM:219700 OMIM:305620 OMIM:158310

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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