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 palate morphology (HP:0000174)

Parent Node:
Abnormal hard palate morphology (HP:0100737)

..Starting node
..Torus palatinus (HP:0100789)

Term ID:

100789

Name:

Torus palatinus

Synonym:

Maxillary torus; Palatal tori; Palatal torus; Palate exostoses; Prominent midpalatal ridge

Definition:

A bony protrusion present on the midline of the hard palate.

Comments:

Reference:

HP:0100789

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cleft palate (HP:0000175)

Short hard palate (HP:0010290)

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:0100789	HP:0100789	Torus palatinus	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040281 - Very frequent	125
HP:0100789	HP:0100789	Torus palatinus	0	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal		125
HP:0100789	HP:0100789	Torus palatinus	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1		125
HP:0100789	HP:0100789	Torus palatinus	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0100789	HP:0100789	Torus palatinus	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor	.	67
HP:0100789	HP:0100789	Torus palatinus	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17

Genes (4) :LRP5 PRR12 SHH ZBTB20

Diseases (6) :ORPHA:2790 OMIM:144750 OMIM:607634 OMIM:619539 OMIM:147250 OMIM:259050

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