Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 oral cavity morphology (HP:0000163)

Parent Node:
Abnormality of the dentition (HP:0000164)

..Starting node
..Abnormality of canine (HP:0011078)

Term ID:

11078

Name:

Abnormality of canine

Synonym:

Abnormality of canine; Abnormality of eye tooth

Definition:

An abnormality of canine tooth.

Comments:

Reference:

HP:0011078

Genes and Diseases:

Child Nodes:

........

Agenesis of canine (HP:0012738)

Sister Nodes:

Abnormal number of teeth (HP:0006483)

Abnormal periodontium morphology (HP:0410026)

Abnormality of dental eruption (HP:0006292)

Abnormality of dental morphology (HP:0006482)

Abnormality of dental structure (HP:0011061)

Abnormality of molar (HP:0011077)

Abnormality of premolar (HP:0011076)

Abnormality of primary teeth (HP:0006481)

Abnormality of the incisor (HP:0000676)

Buried teeth encased in mucopolysaccharide (HP:0006326)

Fragile teeth (HP:0025124)

Irregular dentition (HP:0040079)

Odontogenic neoplasm (HP:0100612)

Periapical bone loss (HP:0000700)

Periodontitis (HP:0000704)

Premature loss of teeth (HP:0006480)

Tooth malposition (HP:0000692)

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:0011078	HP:0011078	Abnormality of canine	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0011078	HP:0011078	Abnormality of canine	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0011078	HP:0011078	Abnormality of canine	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0011078	HP:0011078	Abnormality of canine	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0011078	HP:0011078	Abnormality of canine	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0011078	HP:0011078	Abnormality of canine	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0011078	HP:0011078	Abnormality of canine	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040281 - Very frequent	18
HP:0011078	HP:0011078	Abnormality of canine	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0011078	HP:0011078	Abnormality of canine	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0011078	HP:0011078	Abnormality of canine	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0011078	HP:0011078	Abnormality of canine	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0011078	HP:0011078	Abnormality of canine	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0011078	HP:0011078	Abnormality of canine	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0011078	HP:0011078	Abnormality of canine	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0011078	HP:0011078	Abnormality of canine	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0011078	HP:0011078	Abnormality of canine	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0011078	HP:0011078	Abnormality of canine	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4
HP:0011078	HP:0012738	Agenesis of canine	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2

Genes (17) :APC AXIN2 CHSY1 DDX59 EDA EDARADD FGF3 FGFR1 IRF6 KDM1A LRP6 MSX1 PAX9 SUMO1 TGFA WNT10A WNT10B

Diseases (6) :ORPHA:261584 ORPHA:99798 ORPHA:363417 ORPHA:2919 ORPHA:2791 ORPHA:477993

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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