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:
Tooth agenesis (HP:0009804)

Parent Node:
Abnormality of molar (HP:0011077)

Parent Node:
Selective tooth agenesis (HP:0001592)

..Starting node
..Agenesis of molar (HP:0011054)

Term ID:

11054

Name:

Agenesis of molar

Synonym:

Absence of molar; Absent molars; Failure of development of molar; Missing molar

Definition:

Agenesis of molar tooth.

Comments:

Reference:

HP:0011054

Genes and Diseases:

Child Nodes:

........

Agenesis of permanent molar (HP:0011055)

................... HP:0011056 Agenesis of first permanent molar tooth
................... HP:0011057 Agenesis of second permanent molar

Sister Nodes:

Agenesis of canine (HP:0012738)

Agenesis of incisor (HP:0006485)

Agenesis of premolar (HP:0011051)

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:0011054	HP:0011054	Agenesis of molar	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011054	HP:0011054	Agenesis of molar	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011054	HP:0011054	Agenesis of molar	0	EDA CL E G H	1896	3157	OMIM:313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1		115
HP:0011054	HP:0011054	Agenesis of molar	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011054	HP:0011054	Agenesis of molar	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011054	HP:0011054	Agenesis of molar	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011054	HP:0011054	Agenesis of molar	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011054	HP:0011054	Agenesis of molar	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011054	HP:0011054	Agenesis of molar	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011054	HP:0011054	Agenesis of molar	0	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3		58
HP:0011054	HP:0011054	Agenesis of molar	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011054	HP:0011054	Agenesis of molar	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0011054	HP:0011054	Agenesis of molar	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011054	HP:0011054	Agenesis of molar	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011054	HP:0011054	Agenesis of molar	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011054	HP:0011055	Agenesis of permanent molar	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011054	HP:0011055	Agenesis of permanent molar	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011054	HP:0011055	Agenesis of permanent molar	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011054	HP:0011055	Agenesis of permanent molar	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011054	HP:0011055	Agenesis of permanent molar	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011054	HP:0011055	Agenesis of permanent molar	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011054	HP:0011055	Agenesis of permanent molar	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011054	HP:0011055	Agenesis of permanent molar	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011054	HP:0011055	Agenesis of permanent molar	1	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3		58
HP:0011054	HP:0011055	Agenesis of permanent molar	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011054	HP:0011055	Agenesis of permanent molar	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011054	HP:0011055	Agenesis of permanent molar	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011054	HP:0011055	Agenesis of permanent molar	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011054	HP:0011057	Agenesis of second permanent molar	2	CL E G H
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	435
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	115
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	56
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	172
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	99
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	26
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	12
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	58
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	8
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040282 - Frequent
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	71
HP:0011054	HP:0011056	Agenesis of first permanent molar tooth	2	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	4

Genes (13) :AXIN2 EDA EDARADD FGFR1 IRF6 LRP6 MSX1 PAX9 SUMO1 TCF12 TGFA WNT10A WNT10B

Diseases (4) :ORPHA:99798 OMIM:313500 OMIM:604625 OMIM:619718

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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