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 morphology (HP:0006482)

Parent Node:
Double tooth (HP:0011089)

..Starting node
..Fused teeth (HP:0011090)

Term ID:

11090

Name:

Fused teeth

Synonym:

Fused teeth; Fusion of teeth; Joined teeth

Definition:

The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.

Comments:

Reference:

HP:0011090

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gemination (HP:0011091)

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:0011090	HP:0011090	Fused teeth	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0011090	HP:0011090	Fused teeth	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0011090	HP:0011090	Fused teeth	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0011090	HP:0011090	Fused teeth	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0011090	HP:0011090	Fused teeth	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0011090	HP:0011090	Fused teeth	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136

Genes (4) :BCOR MED12 SLC35A2 WDR35

Diseases (6) :OMIM:300166 ORPHA:2712 ORPHA:93932 OMIM:300896 OMIM:613610 OMIM:614091

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