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 dental morphology (HP:0006482)

Parent Node:
Abnormal dental root morphology (HP:0006486)

..Starting node
..Abnormal size of the dental root (HP:0040220)

Term ID:

40220

Name:

Abnormal size of the dental root

Synonym:

Definition:

Comments:

Reference:

HP:0040220

Genes and Diseases:

Child Nodes:

........

Short dental roots (HP:0006336)

........

Hypoplasia of the dental root (HP:0040221)

Sister Nodes:

Rootless teeth (HP:0011072)

Taurodontia (HP:0000679)

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:0040220	HP:0040220	Abnormal size of the dental root	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0040220	HP:0040220	Abnormal size of the dental root	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0040220	HP:0040220	Abnormal size of the dental root	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0040220	HP:0040220	Abnormal size of the dental root	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0040220	HP:0040220	Abnormal size of the dental root	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0040220	HP:0040220	Abnormal size of the dental root	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0040220	HP:0040220	Abnormal size of the dental root	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0040220	HP:0040220	Abnormal size of the dental root	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0040220	HP:0040220	Abnormal size of the dental root	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0040220	HP:0040220	Abnormal size of the dental root	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0040220	HP:0040220	Abnormal size of the dental root	0	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0040220	HP:0040220	Abnormal size of the dental root	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0040220	HP:0040220	Abnormal size of the dental root	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0040220	HP:0040220	Abnormal size of the dental root	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0040220	HP:0040220	Abnormal size of the dental root	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0040220	HP:0040220	Abnormal size of the dental root	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0040220	HP:0040220	Abnormal size of the dental root	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0040220	HP:0006336	Short dental root	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	435
HP:0040220	HP:0033189	Radiculomegaly	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0040220	HP:0006336	Short dental root	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	115
HP:0040220	HP:0006336	Short dental root	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	56
HP:0040220	HP:0006336	Short dental root	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	172
HP:0040220	HP:0006336	Short dental root	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0040220	HP:0006336	Short dental root	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	99
HP:0040220	HP:0006336	Short dental root	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	26
HP:0040220	HP:0006336	Short dental root	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	12
HP:0040220	HP:0006336	Short dental root	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	58
HP:0040220	HP:0006336	Short dental root	1	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0040220	HP:0006336	Short dental root	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	8
HP:0040220	HP:0006336	Short dental root	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040282 - Frequent
HP:0040220	HP:0040221	Hypoplasia of the dental root	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0040220	HP:0006336	Short dental root	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0040220	HP:0006336	Short dental root	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0040220	HP:0006336	Short dental root	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	71
HP:0040220	HP:0006336	Short dental root	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	4

Genes (16) :AXIN2 BCOR EDA EDARADD FGFR1 IFIH1 IRF6 LRP6 MSX1 PAX9 SMOC2 SUMO1 TGFA TONSL WNT10A WNT10B

Diseases (6) :ORPHA:99798 OMIM:300166 OMIM:182250 OMIM:125400 ORPHA:93357 OMIM:271510

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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