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:
Abnormal number of incisors (HP:0011064)

Parent Node:
Supernumerary tooth (HP:0011069)

..Starting node
..Supernumerary maxillary incisor (HP:0006332)

Term ID:

6332

Name:

Supernumerary maxillary incisor

Synonym:

Extra upper front tooth

Definition:

The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.

Comments:

Reference:

HP:0006332

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mesiodens (HP:0011067)

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:0006332	HP:0006332	Supernumerary maxillary incisor	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0006332	HP:0006332	Supernumerary maxillary incisor	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0006332	HP:0006332	Supernumerary maxillary incisor	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0006332	HP:0006332	Supernumerary maxillary incisor	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0006332	HP:0006332	Supernumerary maxillary incisor	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140

Genes (5) :IRF6 MSX1 NECTIN1 NHS TP63

Diseases (2) :ORPHA:199302 OMIM:302350

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