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:
Abnormality of dental morphology (HP:0006482)

Parent Node:
Abnormal incisor morphology (HP:0011063)

Parent Node:
Conical tooth (HP:0000698)

..Starting node
..Conical incisor (HP:0011065)

Term ID:

11065

Name:

Conical incisor

Synonym:

Cone shaped front tooth; Conoid incisor; Peg shaped front tooth; Peg shaped incisors; Peg-shaped incisors; Pointed front tooth; Pointed incisor; Shark tooth incisor

Definition:

An abnormal conical morphology of the incisor tooth.

Comments:

Reference:

HP:0011065

Genes and Diseases:

Child Nodes:

........

Conical mandibular incisor (HP:0006339)

........

Peg-shaped maxillary lateral incisors (HP:0006342)

........

Conical primary incisor (HP:0011082)

........

Conical maxillary incisor (HP:0011083)

Sister Nodes:

Small, conical teeth (HP:0200141)

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:0011065	HP:0011065	Conical incisor	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate		6
HP:0011065	HP:0011065	Conical incisor	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0011065	HP:0011065	Conical incisor	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011065	HP:0011065	Conical incisor	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0011065	HP:0011065	Conical incisor	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate		38
HP:0011065	HP:0011065	Conical incisor	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0011065	HP:0011065	Conical incisor	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate		1003
HP:0011065	HP:0011065	Conical incisor	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0011065	HP:0011065	Conical incisor	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate		1
HP:0011065	HP:0011065	Conical incisor	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0011065	HP:0011065	Conical incisor	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011065	HP:0011065	Conical incisor	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011065	HP:0011065	Conical incisor	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0011065	HP:0011065	Conical incisor	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0011065	HP:0011065	Conical incisor	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0011065	HP:0011065	Conical incisor	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0011065	HP:0011065	Conical incisor	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011065	HP:0011065	Conical incisor	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0011065	HP:0011065	Conical incisor	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0011065	HP:0011065	Conical incisor	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0011065	HP:0011065	Conical incisor	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0011065	HP:0011065	Conical incisor	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate		99
HP:0011065	HP:0011065	Conical incisor	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011065	HP:0011065	Conical incisor	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011065	HP:0011065	Conical incisor	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011065	HP:0011065	Conical incisor	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate		12
HP:0011065	HP:0011065	Conical incisor	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011065	HP:0011065	Conical incisor	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate		4
HP:0011065	HP:0011065	Conical incisor	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0011065	HP:0011065	Conical incisor	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011065	HP:0011065	Conical incisor	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate		337
HP:0011065	HP:0011065	Conical incisor	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0011065	HP:0011065	Conical incisor	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0011065	HP:0011065	Conical incisor	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0011065	HP:0011065	Conical incisor	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011065	HP:0011065	Conical incisor	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011065	HP:0011065	Conical incisor	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate		140
HP:0011065	HP:0011065	Conical incisor	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0011065	HP:0011065	Conical incisor	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011065	HP:0011065	Conical incisor	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0011065	HP:0011065	Conical incisor	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011065	HP:0006339	Conical mandibular incisor	1	CL E G H
HP:0011065	HP:0011083	Conical maxillary incisor	1	CL E G H
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	6
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	38
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1003
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	99
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	12
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	4
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	337
HP:0011065	HP:0011082	Conical primary incisor	1	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	140
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4	.	71
HP:0011065	HP:0006342	Peg-shaped maxillary lateral incisors	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4

Genes (37) :ARHGAP29 ATR AXIN2 B3GLCT BMP4 CCBE1 CDH1 DLG1 DLX4 DYNC2LI1 EDA EDARADD EVC EVC2 FGF10 FGF3 FGFR1 FGFR2 FGFR3 GLI1 IKBKG IRF6 KAT6A LRP6 MSX1 NECTIN1 NEK1 PAX9 PDGFRA PRKACA PRKACB ST14 SUMO1 TGFA TP63 WNT10A WNT10B

Diseases (14) :ORPHA:199306 OMIM:614564 ORPHA:99798 OMIM:261540 OMIM:235510 ORPHA:289 OMIM:149730 OMIM:610706 OMIM:300291 OMIM:616268 ORPHA:2751 OMIM:602400 OMIM:257980 OMIM:150400

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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