Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 the dentition (HP:0000164)

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

..Starting node
..Abnormal number of permanent teeth (HP:0011044)

Term ID:

11044

Name:

Abnormal number of permanent teeth

Synonym:

Abnormal complement of permanent teeth; Abnormal number of adult teeth; Abnormal number of permanent teeth; Abnormal number of secondary dentition; Abnormal permanent tooth count

Definition:

The presence of an altered number of of permanent teeth.

Comments:

Reference:

HP:0011044

Genes and Diseases:

Child Nodes:

........

Agenesis of permanent teeth (HP:0006349)

Sister Nodes:

Abnormal number of incisors (HP:0011064)

Supernumerary tooth (HP:0011069)

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:0011044	HP:0011044	Abnormal number of permanent teeth	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	6
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	38
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1003
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	1
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	99
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7		26
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	12
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome		12
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome		12
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	4
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	337
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040283 - Occasional	140
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0011044	HP:0011044	Abnormal number of permanent teeth	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	15
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	7
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7	.	26
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent	12
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.	12
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0011044	HP:0006349	Agenesis of permanent teeth	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71

Genes (27) :ARHGAP29 BMP4 C1R C1S CDH1 CREBBP DLG1 DLX4 DVL3 EP300 GNB2 IRF6 KCTD1 LRP6 MESD MSX1 NECTIN1 OFD1 PDGFRA RAB23 RECQL4 RIPK4 SATB2 TP63 UBR1 WDR35 WNT10A

Diseases (20) :ORPHA:199306 ORPHA:75392 OMIM:618332 OMIM:616894 OMIM:618333 OMIM:619503 OMIM:181270 OMIM:616724 OMIM:618644 ORPHA:2228 OMIM:189500 OMIM:311200 OMIM:201000 OMIM:268400 ORPHA:1401 ORPHA:251028 OMIM:243800 OMIM:614091 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen