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 the dentition (HP:0000164)

Parent Node:
Abnormal number of teeth (HP:0006483)

..Starting node
..Supernumerary tooth (HP:0011069)

Term ID:

11069

Name:

Supernumerary tooth

Synonym:

Extra teeth; Hyperdontia; Increased number of teeth; Increased tooth count; More teeth than normal; Supernumary dentition; Supernumary teeth; Supernumerary teeth; Supplemental dentition; Supplemental teeth; Tooth, supernumerary

Definition:

The presence of one or more teeth additional to the normal number.

Comments:

Reference:

HP:0011069

Genes and Diseases:

Child Nodes:

........

Supernumerary maxillary incisor (HP:0006332)

........

Mesiodens (HP:0011067)

Sister Nodes:

Abnormal number of incisors (HP:0011064)

Abnormal number of permanent teeth (HP:0011044)

Tooth agenesis (HP:0009804)

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:0011069	HP:0011069	Supernumerary tooth	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional	19
HP:0011069	HP:0011069	Supernumerary tooth	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	1
HP:0011069	HP:0011069	Supernumerary tooth	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional	2
HP:0011069	HP:0011069	Supernumerary tooth	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	HP:0040283 - Occasional	3179
HP:0011069	HP:0011069	Supernumerary tooth	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0011069	HP:0011069	Supernumerary tooth	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional	3179
HP:0011069	HP:0011069	Supernumerary tooth	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0011069	HP:0011069	Supernumerary tooth	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0011069	HP:0011069	Supernumerary tooth	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0011069	HP:0011069	Supernumerary tooth	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0011069	HP:0011069	Supernumerary tooth	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0011069	HP:0011069	Supernumerary tooth	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	147
HP:0011069	HP:0011069	Supernumerary tooth	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0011069	HP:0011069	Supernumerary tooth	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0011069	HP:0011069	Supernumerary tooth	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0011069	HP:0011069	Supernumerary tooth	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0011069	HP:0011069	Supernumerary tooth	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0011069	HP:0011069	Supernumerary tooth	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0011069	HP:0011069	Supernumerary tooth	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0011069	HP:0011069	Supernumerary tooth	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0011069	HP:0011069	Supernumerary tooth	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0011069	HP:0011069	Supernumerary tooth	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0011069	HP:0011069	Supernumerary tooth	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0011069	HP:0011069	Supernumerary tooth	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent	114
HP:0011069	HP:0011069	Supernumerary tooth	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040283 - Occasional	18
HP:0011069	HP:0011069	Supernumerary tooth	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0011069	HP:0011069	Supernumerary tooth	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0011069	HP:0011069	Supernumerary tooth	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0011069	HP:0011069	Supernumerary tooth	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0011069	HP:0011069	Supernumerary tooth	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0011069	HP:0011069	Supernumerary tooth	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional	5
HP:0011069	HP:0011069	Supernumerary tooth	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0011069	HP:0011069	Supernumerary tooth	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0011069	HP:0011069	Supernumerary tooth	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0011069	HP:0011069	Supernumerary tooth	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0011069	HP:0011069	Supernumerary tooth	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	HP:0040283 - Occasional	45
HP:0011069	HP:0011069	Supernumerary tooth	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0011069	HP:0011069	Supernumerary tooth	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0011069	HP:0011069	Supernumerary tooth	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040282 - Frequent	88
HP:0011069	HP:0011069	Supernumerary tooth	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0011069	HP:0011069	Supernumerary tooth	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0011069	HP:0011069	Supernumerary tooth	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent	36
HP:0011069	HP:0011069	Supernumerary tooth	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0011069	HP:0011069	Supernumerary tooth	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0011069	HP:0011069	Supernumerary tooth	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0011069	HP:0011069	Supernumerary tooth	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0011069	HP:0011069	Supernumerary tooth	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0011069	HP:0011069	Supernumerary tooth	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0011069	HP:0011069	Supernumerary tooth	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0011069	HP:0011069	Supernumerary tooth	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0011069	HP:0011069	Supernumerary tooth	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0011069	HP:0011069	Supernumerary tooth	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0011069	HP:0011069	Supernumerary tooth	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171
HP:0011069	HP:0011069	Supernumerary tooth	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0011069	HP:0011069	Supernumerary tooth	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0011069	HP:0011069	Supernumerary tooth	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0011069	HP:0011067	Mesiodens	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare	34
HP:0011069	HP:0006332	Supernumerary maxillary incisor	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0011069	HP:0006332	Supernumerary maxillary incisor	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0011069	HP:0006332	Supernumerary maxillary incisor	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0011069	HP:0006332	Supernumerary maxillary incisor	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0011069	HP:0011067	Mesiodens	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0011069	HP:0011067	Mesiodens	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0011069	HP:0006332	Supernumerary maxillary incisor	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140

Genes (48) :ACSL4 ADAMTS3 AMMECR1 APC ATP6V1B2 BCOR C2CD3 CAMTA1 CCBE1 CDH11 CREBBP DDX59 DHCR7 DVL1 DVL3 DYNC2LI1 DYRK1A EP300 EXT1 FAT4 FGF3 FZD2 HSPG2 IL11RA IL6ST IRF6 KCNE5 KCNH1 KCNN3 KRT14 MSX1 MSX2 NECTIN1 NHS NXN OFD1 PIGL POU4F1 PUF60 RECQL4 ROR2 RPS23 RUNX2 SLC37A4 TCF12 TP63 TRPS1 WNT5A

Diseases (41) :ORPHA:86818 ORPHA:2136 OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:3473 OMIM:300166 ORPHA:434179 OMIM:615948 ORPHA:314647 OMIM:211380 ORPHA:353281 ORPHA:353277 ORPHA:2919 ORPHA:818 ORPHA:3107 OMIM:617088 ORPHA:268261 ORPHA:353284 ORPHA:502 ORPHA:90024 ORPHA:800 OMIM:614188 OMIM:619752 ORPHA:199302 ORPHA:69087 OMIM:604757 OMIM:302350 ORPHA:627 ORPHA:1507 OMIM:311200 ORPHA:3474 ORPHA:508488 OMIM:268400 OMIM:617412 OMIM:119600 ORPHA:1452 OMIM:619525 OMIM:619718 ORPHA:77258 OMIM:190351

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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