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 incisors (HP:0011064)

Grandparent Node:
Selective tooth agenesis (HP:0001592)

Parent Node:
Agenesis of incisor (HP:0006485)

..Starting node
..Agenesis of central incisor (HP:0006289)

Term ID:

6289

Name:

Agenesis of central incisor

Synonym:

Absent central incisor; Absent central incisors; Failure of development of central incisor; Missing central incisors

Definition:

Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.

Comments:

Reference:

HP:0006289

Genes and Diseases:

Child Nodes:

........

Agenesis of maxillary central incisor (HP:0006293)

................... HP:0011045 Agenesis of permanent maxillary central incisor
................... HP:0011046 Agenesis of primary maxillary central incisor

........

Agenesis of mandibular central incisor (HP:0006355)

................... HP:0011047 Agenesis of primary mandibular central incisor
................... HP:0011048 Agenesis of permanent mandibular central incisor

Sister Nodes:

Agenesis of lateral incisor (HP:0200153)

Agenesis of mandibular incisor (HP:0200161)

Agenesis of maxillary incisor (HP:0200160)

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:0006289	HP:0006289	Agenesis of central incisor	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	435
HP:0006289	HP:0006289	Agenesis of central incisor	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	115
HP:0006289	HP:0006289	Agenesis of central incisor	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	56
HP:0006289	HP:0006289	Agenesis of central incisor	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0006289	HP:0006289	Agenesis of central incisor	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	172
HP:0006289	HP:0006289	Agenesis of central incisor	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	99
HP:0006289	HP:0006289	Agenesis of central incisor	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	26
HP:0006289	HP:0006289	Agenesis of central incisor	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	12
HP:0006289	HP:0006289	Agenesis of central incisor	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent	101
HP:0006289	HP:0006289	Agenesis of central incisor	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	58
HP:0006289	HP:0006289	Agenesis of central incisor	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	8
HP:0006289	HP:0006289	Agenesis of central incisor	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040282 - Frequent
HP:0006289	HP:0006289	Agenesis of central incisor	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	71
HP:0006289	HP:0006289	Agenesis of central incisor	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	4
HP:0006289	HP:0006293	Agenesis of maxillary central incisor	1	CL E G H
HP:0006289	HP:0006355	Agenesis of mandibular central incisor	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0006289	HP:0011047	Agenesis of primary mandibular central incisor	2	CL E G H
HP:0006289	HP:0011046	Agenesis of primary maxillary central incisor	2	CL E G H
HP:0006289	HP:0011045	Agenesis of permanent maxillary central incisor	2	CL E G H
HP:0006289	HP:0011048	Agenesis of permanent mandibular central incisor	2	CL E G H

Genes (14) :AXIN2 EDA EDARADD EIF4A3 FGFR1 IRF6 LRP6 MSX1 NEK1 PAX9 SUMO1 TGFA WNT10A WNT10B

Diseases (3) :ORPHA:99798 OMIM:268305 ORPHA:2751

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

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