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:
Abnormal aortic morphology (HP:0001679)

Grandparent Node:
Arterial calcification (HP:0003207)

Parent Node:
Calcification of the aorta (HP:0004963)

..Starting node
..Thoracic aorta calcification (HP:0004962)

Term ID:

4962

Name:

Thoracic aorta calcification

Synonym:

Definition:

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.

Comments:

Reference:

HP:0004962

Genes and Diseases:

Child Nodes:

........

Aortic arch calcification (HP:0005303)

Sister Nodes:

Abdominal aortic calcification (HP:0031313)

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:0004962	HP:0004962	Thoracic aorta calcification	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	10
HP:0004962	HP:0004962	Thoracic aorta calcification	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0004962	HP:0004962	Thoracic aorta calcification	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	90
HP:0004962	HP:0004962	Thoracic aorta calcification	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	452
HP:0004962	HP:0004962	Thoracic aorta calcification	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent	33
HP:0004962	HP:0005303	Aortic arch calcification	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28

Genes (5) :GATA5 IFIH1 NKX2-5 NOTCH1 SMAD6

Diseases (2) :ORPHA:402075 OMIM:182250

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