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 cardiovascular system physiology (HP:0011025)

Parent Node:
Congestive heart failure (HP:0001635)

..Starting node
..Low-output congestive heart failure (HP:0009805)

Term ID:

9805

Name:

Low-output congestive heart failure

Synonym:

Definition:

A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.

Comments:

Reference:

HP:0009805

Genes and Diseases:

Child Nodes:

Sister Nodes:

High-output congestive heart failure (HP:0001722)

obsolete Restrictive heart failure (HP:0005130)

Reduced systolic function (HP:0006673)

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:0009805	HP:0009805	Low-output congestive heart failure	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0009805	HP:0009805	Low-output congestive heart failure	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0009805	HP:0009805	Low-output congestive heart failure	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040282 - Frequent	35

Genes (3) :GAA PNPLA2 SLC25A3

Diseases (3) :ORPHA:308552 ORPHA:565612 ORPHA:91130

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