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:
Eruption failure (HP:0000706)

Parent Node:
Impacted tooth (HP:0011079)

..Starting node
..Multiple impacted teeth (HP:0001571)

Term ID:

1571

Name:

Multiple impacted teeth

Synonym:

Impacted teeth; Multiple buried teeth; Multiple impacted teeth; Multiple retained teeth

Definition:

The presence of multiple impacted teeth.

Comments:

Reference:

HP:0001571

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0001571	HP:0001571	Multiple impacted teeth	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0001571	HP:0001571	Multiple impacted teeth	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0001571	HP:0001571	Multiple impacted teeth	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.	25
HP:0001571	HP:0001571	Multiple impacted teeth	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0001571	HP:0001571	Multiple impacted teeth	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177

Genes (5) :CDH11 FLNA HOXD13 PTH1R SH3BP2

Diseases (5) :OMIM:211380 OMIM:311300 OMIM:113300 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.