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 maxillary incisor (HP:0200160)

Term ID:

200160

Name:

Agenesis of maxillary incisor

Synonym:

Absence of maxillary incisor; Absence of upper front tooth; Failure of development of maxillary incisor; Failure of development of upper incisor; Missing upper front tooth; Missing upper incisor

Definition:

Comments:

Reference:

HP:0200160

Genes and Diseases:

Child Nodes:

........

Agenesis of maxillary lateral incisor (HP:0000690)

................... HP:0011049 Agenesis of primary maxillary lateral incisor
................... HP:0011050 Agenesis of permanent maxillary lateral incisor

........

Agenesis of maxillary central incisor (HP:0006293)

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

Sister Nodes:

Agenesis of central incisor (HP:0006289)

Agenesis of lateral incisor (HP:0200153)

Agenesis of mandibular incisor (HP:0200161)

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:0200160	HP:0200160	Agenesis of maxillary incisor	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive		54
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0200160	HP:0200160	Agenesis of maxillary incisor	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0200160	HP:0006293	Agenesis of maxillary central incisor	1	CL E G H
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	435
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	115
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	56
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive		54
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	172
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	99
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	26
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	12
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	58
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	8
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040282 - Frequent
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	71
HP:0200160	HP:0000690	Agenesis of maxillary lateral incisor	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	4
HP:0200160	HP:0011046	Agenesis of primary maxillary central incisor	2	CL E G H
HP:0200160	HP:0011045	Agenesis of permanent maxillary central incisor	2	CL E G H
HP:0200160	HP:0011050	Agenesis of permanent maxillary lateral incisor	2	CL E G H
HP:0200160	HP:0011049	Agenesis of primary maxillary lateral incisor	2	CL E G H

Genes (18) :AXIN2 B3GLCT BCOR BLM EDA EDARADD ERCC3 FGFR1 IRF6 LRP6 MSX1 NAA10 PAX9 RIPK4 SUMO1 TGFA WNT10A WNT10B

Diseases (6) :ORPHA:99798 OMIM:261540 OMIM:309800 OMIM:210900 OMIM:616390 ORPHA:1401

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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