Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 mandible morphology (HP:0000277)

Parent Node:
Midline defect of mandible (HP:0010753)

..Starting node
..Antegonial notching of mandible (HP:0003779)

Term ID:

3779

Name:

Antegonial notching of mandible

Synonym:

Deep antegonial notch of mandible; Large antegonial notch of mandible

Definition:

Comments:

Reference:

HP:0003779

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cleft mandible (HP:0010752)

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:0003779	HP:0003779	Antegonial notching of mandible	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0003779	HP:0003779	Antegonial notching of mandible	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193

Genes (2) :FLNA KCNJ2

Diseases (2) :OMIM:305620 OMIM:170390

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