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 of head and neck (HP:0012288)

Parent Node:
Abnormal jaw morphology (HP:0030791)

Parent Node:
Facial neoplasm (HP:0012289)

..Starting node
..Jaw neoplasm (HP:0030792)

Term ID:

30792

Name:

Jaw neoplasm

Synonym:

Definition:

A tumor originating in the jaw (mandible or maxilla).

Comments:

Reference:

HP:0030792

Genes and Diseases:

Child Nodes:

Sister Nodes:

Neoplasm of the nose (HP:0012720)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030792	HP:0030792	Jaw neoplasm	0	CL E G H

Genes (0) :

Diseases (0) :

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