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:
Aortic aneurysm (HP:0004942)

Parent Node:
Thoracic aortic aneurysm (HP:0012727)

..Starting node
..Descending thoracic aorta aneurysm (HP:0004959)

Term ID:

4959

Name:

Descending thoracic aorta aneurysm

Synonym:

Dilatation of the descending thoracic aorta

Definition:

An abnormal localized widening (dilatation) of the descending thoracic aorta.

Comments:

Reference:

HP:0004959

Genes and Diseases:

Child Nodes:

........

Fusiform descending thoracic aortic aneurysm (HP:0012728)

........

Saccular descending thoracic aortic aneurysm (HP:0012729)

Sister Nodes:

Aortic arch aneurysm (HP:0005113)

Aortic root aneurysm (HP:0002616)

Ascending tubular aorta aneurysm (HP:0004970)

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:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0004959	HP:0004959	Descending thoracic aorta aneurysm	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004959	HP:0012729	Saccular descending thoracic aortic aneurysm	1	CL E G H
HP:0004959	HP:0012728	Fusiform descending thoracic aortic aneurysm	1	CL E G H

Genes (18) :ACTA2 ELN FBN1 FOXE3 HEY2 LOX MAT2A MFAP5 MYH11 MYLK PRKG1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2

Diseases (3) :ORPHA:91387 ORPHA:229 OMIM:610168

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