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:
Abnormality of dental structure (HP:0011061)

Parent Node:
Tooth abscess (HP:0030757)

..Starting node
..Periapical tooth abscess (HP:0030758)

Term ID:

30758

Name:

Periapical tooth abscess

Synonym:

Definition:

A tooth abscess that occurs at the tip of the root (apex) of a tooth.

Comments:

Reference:

HP:0030758

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030758	HP:0030758	Periapical tooth abscess	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48

Genes (1) :DLX3

Diseases (1) :ORPHA:3352

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