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)

Parent Node:
Atrioventricular canal defect (HP:0006695)

..Starting node
..Unbalanced atrioventricular canal defect (HP:0011579)

Term ID:

11579

Name:

Unbalanced atrioventricular canal defect

Synonym:

Unbalanced atrioventricular septal defect

Definition:

Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).

Comments:

Reference:

HP:0011579

Genes and Diseases:

Child Nodes:

Sister Nodes:

Complete atrioventricular canal defect (HP:0001674)

Intermediate atrioventricular canal defect (HP:0011576)

Partial atrioventricular canal defect (HP:0011577)

Primum atrial septal defect (HP:0010445)

Transitional atrioventricular canal defect (HP:0011578)

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:0011579	HP:0011579	Unbalanced atrioventricular canal defect	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0011579	HP:0011579	Unbalanced atrioventricular canal defect	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0011579	HP:0011579	Unbalanced atrioventricular canal defect	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0011579	HP:0011579	Unbalanced atrioventricular canal defect	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0011579	HP:0011579	Unbalanced atrioventricular canal defect	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS

Genes (5) :CFAP53 DNAH9 PKD1L1 SMAD2 TTC26

Diseases (5) :OMIM:614779 OMIM:618300 OMIM:617205 OMIM:619657 OMIM:619534

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