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
..Impacted tooth (HP:0011079)

Term ID:

11079

Name:

Impacted tooth

Synonym:

Buried tooth; Impacted tooth; Retained tooth

Definition:

A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).

Comments:

Reference:

HP:0011079

Genes and Diseases:

Child Nodes:

........

Multiple impacted teeth (HP:0001571)

Sister Nodes:

Failure of eruption of permanent teeth (HP:0006352)

Multiple unerupted teeth (HP:0006283)

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:0011079	HP:0011079	Impacted tooth	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0011079	HP:0011079	Impacted tooth	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0011079	HP:0011079	Impacted tooth	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E		25
HP:0011079	HP:0011079	Impacted tooth	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0011079	HP:0011079	Impacted tooth	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0011079	HP:0011079	Impacted tooth	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0011079	HP:0011079	Impacted tooth	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0011079	HP:0001571	Multiple impacted teeth	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0011079	HP:0001571	Multiple impacted teeth	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0011079	HP:0001571	Multiple impacted teeth	1	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.	25
HP:0011079	HP:0001571	Multiple impacted teeth	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0011079	HP:0001571	Multiple impacted teeth	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177

Genes (7) :CDH11 FLNA HOXD13 LMNA PTH1R SH3BP2 ZMPSTE24

Diseases (6) :OMIM:211380 OMIM:311300 OMIM:113300 ORPHA:740 OMIM:600002 OMIM:118400

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