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 ventriculoarterial connection (HP:0011563)

Grandparent Node:
Congenital malformation of the great arteries (HP:0011603)

Parent Node:
Transposition of the great arteries (HP:0001669)

..Starting node
..Dextrotransposition of the great arteries (HP:0031348)

Term ID:

31348

Name:

Dextrotransposition of the great arteries

Synonym:

D-loop transposition of the great arteries; D-TGA

Definition:

A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.

Comments:

Reference:

HP:0031348

Genes and Diseases:

Child Nodes:

Sister Nodes:

Levotransposition of the great arteries (HP:0031349)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031348	HP:0031348	Dextrotransposition of the great arteries	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	161
HP:0031348	HP:0031348	Dextrotransposition of the great arteries	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0031348	HP:0031348	Dextrotransposition of the great arteries	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5	45
HP:0031348	HP:0031348	Dextrotransposition of the great arteries	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8	7
HP:0031348	HP:0031348	Dextrotransposition of the great arteries	0	SMG9 CL E G H	56006	25763	OMIM:619995		2
HP:0031348	HP:0031348	Dextrotransposition of the great arteries	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	39
HP:0031348	HP:0031348	Dextrotransposition of the great arteries	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA	4

Genes (7) :ACVR2B CIROP NODAL SMAD2 SMG9 ZIC3 ZNF462

Diseases (7) :OMIM:613751 OMIM:619702 OMIM:270100 OMIM:619657 OMIM:619995 OMIM:306955 OMIM:618619

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