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:
Cardiomyopathy (HP:0001638)

Parent Node:
Noncompaction cardiomyopathy (HP:0012817)

..Starting node
..Left ventricular noncompaction cardiomyopathy (HP:0011664)

Term ID:

11664

Name:

Left ventricular noncompaction cardiomyopathy

Synonym:

Left ventricular non-compaction cardiomyopathy

Definition:

Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.

Comments:

Reference:

HP:0011664

Genes and Diseases:

Child Nodes:

Sister Nodes:

Biventricular noncompaction cardiomyopathy (HP:0012818)

Right ventricular noncompaction cardiomyopathy (HP:0012816)

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:0011664	HP:0011664	Left ventricular noncompaction cardiomyopathy	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0011664	HP:0011664	Left ventricular noncompaction cardiomyopathy	0	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7	.	28
HP:0011664	HP:0011664	Left ventricular noncompaction cardiomyopathy	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency		80
HP:0011664	HP:0011664	Left ventricular noncompaction cardiomyopathy	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0011664	HP:0011664	Left ventricular noncompaction cardiomyopathy	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0011664	HP:0011664	Left ventricular noncompaction cardiomyopathy	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0011664	HP:0011664	Left ventricular noncompaction cardiomyopathy	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0011664	HP:0011664	Left ventricular noncompaction cardiomyopathy	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230

Genes (8) :DTNA MIB1 MLYCD MYL2 MYOCD NONO RYR2 TPM1

Diseases (8) :OMIM:604169 OMIM:615092 OMIM:248360 OMIM:619424 OMIM:618719 OMIM:300967 OMIM:115000 OMIM:611878

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