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:
Abnormality of premolar (HP:0011076)

Grandparent Node:
Selective tooth agenesis (HP:0001592)

Parent Node:
Agenesis of premolar (HP:0011051)

..Starting node
..Agenesis of mandibular premolar (HP:0011053)

Term ID:

11053

Name:

Agenesis of mandibular premolar

Synonym:

Absence of lower premolar; Absence of mandibular premolar; Failure of development of mandibular premolar; Missing lower premolar; Missing mandibular premolar

Definition:

Agenesis of mandibular premolar.

Comments:

Reference:

HP:0011053

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agenesis of maxillary premolar (HP:0011052)

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:0011053	HP:0011053	Agenesis of mandibular premolar	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0011053	HP:0011053	Agenesis of mandibular premolar	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4

Genes (12) :AXIN2 EDA EDARADD FGFR1 IRF6 LRP6 MSX1 PAX9 SUMO1 TGFA WNT10A WNT10B

Diseases (1) :ORPHA:99798

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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