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 facial skeleton morphology (HP:0011821)

Parent Node:
Abnormal jaw morphology (HP:0030791)

..Starting node
..Jaw swelling (HP:0030793)

Term ID:

30793

Name:

Jaw swelling

Synonym:

Definition:

Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).

Comments:

Reference:

HP:0030793

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal mandible morphology (HP:0000277)

Abnormality of the maxilla (HP:0000326)

Jaw neoplasm (HP:0030792)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030793	HP:0030793	Jaw swelling	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism	177
HP:0030793	HP:0030793	Jaw swelling	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO

Genes (2) :SH3BP2 TBC1D2B

Diseases (2) :OMIM:118400 OMIM:619323

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