Human Phenotype Ontology

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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:
Thoracic aortic aneurysm (HP:0012727)

Parent Node:
Descending thoracic aorta aneurysm (HP:0004959)

..Starting node
..Fusiform descending thoracic aortic aneurysm (HP:0012728)

Term ID:

12728

Name:

Fusiform descending thoracic aortic aneurysm

Synonym:

Dilatation of the fusiform descending thoracic aorta

Definition:

A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall

Comments:

Reference:

HP:0012728

Genes and Diseases:

Child Nodes:

Sister Nodes:

Saccular descending thoracic aortic aneurysm (HP:0012729)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012728	HP:0012728	Fusiform descending thoracic aortic aneurysm	0	CL E G H

Genes (0) :

Diseases (0) :

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.