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)

Grandparent Node:
Neoplasm of the oral cavity (HP:0100649)

Parent Node:
Hamartoma (HP:0010566)

Parent Node:
Odontogenic neoplasm (HP:0100612)

..Starting node
..Odontoma (HP:0011068)

Term ID:

11068

Name:

Odontoma

Synonym:

Odontomas

Definition:

The presence of an odontoma.

Comments:

Reference:

HP:0011068

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cementoma (HP:0012328)

Odontogenic keratocysts of the jaw (HP:0010603)

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:0011068	HP:0011068	Odontoma	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0011068	HP:0011068	Odontoma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0011068	HP:0011068	Odontoma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0011068	HP:0011068	Odontoma	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040283 - Occasional	18

Genes (2) :APC FGF3

Diseases (4) :OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:2791

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