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 oral cavity morphology (HP:0000163)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Abnormality of the dentition (HP:0000164)

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

..Starting node
..Odontogenic neoplasm (HP:0100612)

Term ID:

100612

Name:

Odontogenic neoplasm

Synonym:

Odontogenic tumor; Odontogenic tumour

Definition:

Neoplasm involving odontogenic cells, an odontogenic tumor.

Comments:

Reference:

HP:0100612

Genes and Diseases:

Child Nodes:

........

Odontogenic keratocysts of the jaw (HP:0010603)

........

Odontoma (HP:0011068)

........

Cementoma (HP:0012328)

Sister Nodes:

Epignathus (HP:0030767)

Neoplasm of the tongue (HP:0100648)

Palate neoplasm (HP:0031366)

Salivary gland neoplasm (HP:0100684)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100612	HP:0100612	Odontogenic neoplasm	0	HSPG2 CL E G H	3339	800		ORPHA	0	1830	5273	142461
HP:0100612	HP:0100612	Odontogenic neoplasm	0	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation	ORPHA	0	508	8108	300535
HP:0100612	HP:0100612	Odontogenic neoplasm	0	OFD1 CL E G H	8481	2750		ORPHA	0	789	2567	300170
HP:0100612	HP:0010603	Odontogenic keratocysts of the jaw	1	HSPG2 CL E G H	3339	800		ORPHA	0	1830	5273	142461
HP:0100612	HP:0012328	Cementoma	1	HSPG2 CL E G H	3339	800		ORPHA	0	1830	5273	142461
HP:0100612	HP:0011068	Odontoma	1	HSPG2 CL E G H	3339	800		ORPHA	0	1830	5273	142461
HP:0100612	HP:0010603	Odontogenic keratocysts of the jaw	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation	ORPHA	0	508	8108	300535
HP:0100612	HP:0012328	Cementoma	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation	ORPHA	0	508	8108	300535
HP:0100612	HP:0011068	Odontoma	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation	ORPHA	0	508	8108	300535
HP:0100612	HP:0010603	Odontogenic keratocysts of the jaw	1	OFD1 CL E G H	8481	2750		ORPHA	0	789	2567	300170
HP:0100612	HP:0012328	Cementoma	1	OFD1 CL E G H	8481	2750		ORPHA	0	789	2567	300170
HP:0100612	HP:0011068	Odontoma	1	OFD1 CL E G H	8481	2750		ORPHA	0	789	2567	300170

Genes (8) :APC FGF3 HSPG2 OCRL OFD1 PTCH1 PTCH2 SUFU

Diseases (9) :800 534 2750 247806 79665 175100 2791 77301 109400

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.