Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 septum morphology (HP:0001671)

Grandparent Node:
Abnormal cardiac ventricle morphology (HP:0001713)

Parent Node:
Abnormal ventricular septum morphology (HP:0010438)

..Starting node
..Ventricular septal hypertrophy (HP:0005144)

Term ID:

5144

Name:

Ventricular septal hypertrophy

Synonym:

Thickened interventricular septum

Definition:

The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.

Comments:

Reference:

HP:0005144

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ventricular septal aneurysm (HP:0030957)

Ventricular septal defect (HP:0001629)

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:0005144	HP:0005144	Ventricular septal hypertrophy	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12		104
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040284 - Very rare	29
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.	131
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040284 - Very rare	217
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	.	1129
HP:0005144	HP:0005144	Ventricular septal hypertrophy	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248

Genes (13) :ALPK3 BSCL2 CSRP3 GLA GYG1 LEMD2 MAP2K2 MTFMT MYBPC3 MYL2 MYPN SYNE1 TNNT2

Diseases (13) :OMIM:618052 OMIM:269700 OMIM:612124 OMIM:301500 ORPHA:263297 OMIM:619322 OMIM:615280 OMIM:614947 OMIM:115197 OMIM:608758 OMIM:615248 OMIM:612998 OMIM:115195

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen