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:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Neoplasm of head and neck (HP:0012288)

..Starting node
..Facial neoplasm (HP:0012289)

Term ID:

12289

Name:

Facial neoplasm

Synonym:

Face tumor; Face tumour

Definition:

A tumor (abnormal growth of tissue) of the face.

Comments:

Reference:

HP:0012289

Genes and Diseases:

Child Nodes:

........

Neoplasm of the nose (HP:0012720)

................... HP:0030072 Paranasal sinus neoplasm

........

Jaw neoplasm (HP:0030792)

Sister Nodes:

Esophageal neoplasm (HP:0100751)

Juvenile nasopharyngeal angiofibroma (HP:0030429)

obsolete Mouth neoplasm (HP:0012290)

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:0012289	HP:0012289	Facial neoplasm	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012289	HP:0012289	Facial neoplasm	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012289	HP:0012289	Facial neoplasm	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0012289	HP:0030792	Jaw neoplasm	1	CL E G H
HP:0012289	HP:0012720	Neoplasm of the nose	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012289	HP:0012720	Neoplasm of the nose	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012289	HP:0012720	Neoplasm of the nose	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0012289	HP:0030072	Paranasal sinus neoplasm	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012289	HP:0030072	Paranasal sinus neoplasm	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134

Genes (3) :PDE11A PRKAR1A STK11

Diseases (2) :ORPHA:1359 ORPHA:2869

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