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 the dentition (HP:0000164)

Parent Node:
Abnormality of dental structure (HP:0011061)

..Starting node
..Tooth abscess (HP:0030757)

Term ID:

30757

Name:

Tooth abscess

Synonym:

Dental abscess; Dentoalveolar abscess

Definition:

A pocket of pus located within a region of a tooth.

Comments:

Reference:

HP:0030757

Genes and Diseases:

Child Nodes:

........

Periapical tooth abscess (HP:0030758)

Sister Nodes:

Abnormal cementum morphology (HP:0100717)

Abnormal dental enamel morphology (HP:0000682)

Abnormal dental pulp morphology (HP:0006479)

Abnormal dentin morphology (HP:0010299)

Abnormality of dental color (HP:0011073)

Carious teeth (HP:0000670)

Hypoplasia of teeth (HP:0000685)

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:0030757	HP:0030757	Tooth abscess	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome		48
HP:0030757	HP:0030757	Tooth abscess	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	48
HP:0030757	HP:0030757	Tooth abscess	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0030757	HP:0030757	Tooth abscess	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	151
HP:0030757	HP:0030757	Tooth abscess	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent	51
HP:0030757	HP:0030757	Tooth abscess	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0030757	HP:0030757	Tooth abscess	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217
HP:0030757	HP:0030758	Periapical tooth abscess	1	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48

Genes (7) :DLX3 DMP1 ELANE ENPP1 FGF23 NTRK1 PHEX

Diseases (6) :ORPHA:3352 ORPHA:289176 ORPHA:2686 ORPHA:89937 ORPHA:642 ORPHA:89936

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