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 number of teeth (HP:0006483)

Parent Node:
Supernumerary tooth (HP:0011069)

..Starting node
..Mesiodens (HP:0011067)

Term ID:

11067

Name:

Mesiodens

Synonym:

Extra tooth; Extra tooth in the midline; Median supernumary tooth; Mesiodentes; Midline supernumary tooth

Definition:

A supernumerary tooth in the midline between the maxillary central incisors.

Comments:

Reference:

HP:0011067

Genes and Diseases:

Child Nodes:

Sister Nodes:

Supernumerary maxillary incisor (HP:0006332)

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:0011067	HP:0011067	Mesiodens	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare	34
HP:0011067	HP:0011067	Mesiodens	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0011067	HP:0011067	Mesiodens	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19

Genes (3) :CAMTA1 POU4F1 PUF60

Diseases (2) :ORPHA:314647 ORPHA:508488

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