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:
Abnormal number of teeth (HP:0006483)

Parent Node:
Abnormal number of permanent teeth (HP:0011044)

Parent Node:
Tooth agenesis (HP:0009804)

..Starting node
..Agenesis of permanent teeth (HP:0006349)

Term ID:

6349

Name:

Agenesis of permanent teeth

Synonym:

Absence of permanent teeth; Absent permanent teeth; Agenesis of permanent dentition; Agenesis of secondary dentition; Failure of development of permanent teeth; Failure of development of secondary teeth; Missing teeth

Definition:

A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.

Comments:

Reference:

HP:0006349

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anodontia (HP:0000674)

Hypodontia (HP:0000668)

Oligodontia (HP:0000677)

Selective tooth agenesis (HP:0001592)

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

Genes (18) :C1R C1S CREBBP DVL3 EP300 GNB2 KCTD1 LRP6 MESD MSX1 OFD1 RAB23 RECQL4 RIPK4 SATB2 UBR1 WDR35 WNT10A

Diseases (19) :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.

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