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:
Abnormality of dental eruption (HP:0006292)

Parent Node:
Eruption failure (HP:0000706)

..Starting node
..Multiple unerupted teeth (HP:0006283)

Term ID:

6283

Name:

Multiple unerupted teeth

Synonym:

Failure of eruption of multiple teeth; Multiple non-erupting teeth; Multiple unerupted teeth

Definition:

The presence of multiple embedded tooth germs which have failed to erupt.

Comments:

Reference:

HP:0006283

Genes and Diseases:

Child Nodes:

Sister Nodes:

Failure of eruption of permanent teeth (HP:0006352)

Impacted tooth (HP:0011079)

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:0006283	HP:0006283	Multiple unerupted teeth	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional	3179
HP:0006283	HP:0006283	Multiple unerupted teeth	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040281 - Very frequent	172
HP:0006283	HP:0006283	Multiple unerupted teeth	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58

Genes (3) :APC FGFR1 PTH1R

Diseases (3) :ORPHA:79665 ORPHA:2645 OMIM:600002

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