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 dental eruption (HP:0006292)

Parent Node:
Delayed eruption of teeth (HP:0000684)

..Starting node
..Delayed eruption of permanent teeth (HP:0000696)

Term ID:

696

Name:

Delayed eruption of permanent teeth

Synonym:

Delayed eruption of adult teeth; Delayed eruption of permanent teeth; Delayed eruption of secondary dentition; Delayed eruption of secondary teeth; Delayed permanent dentition

Definition:

Delayed tooth eruption affecting the secondary dentition.

Comments:

Reference:

HP:0000696

Genes and Diseases:

Child Nodes:

........

Marked delay in eruption of permanent teeth (HP:0006291)

........

Multiple non-erupting secondary teeth (HP:0006321)

........

No permanent dentition (HP:0008498)

Sister Nodes:

Delayed eruption of primary teeth (HP:0000680)

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:0000696	HP:0000696	Delayed eruption of permanent teeth	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	435
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	115
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	56
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	172
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	99
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	26
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	12
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	NPHS1 CL E G H	4868	7908	ORPHA:839	Congenital nephrotic syndrome, Finnish type	HP:0040281 - Very frequent	241
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	58
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.	120
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	8
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040282 - Frequent
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	71
HP:0000696	HP:0000696	Delayed eruption of permanent teeth	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	4
HP:0000696	HP:0006321	Multiple non-erupting secondary teeth	1	CL E G H
HP:0000696	HP:0006291	Marked delay in eruption of permanent teeth	1	CL E G H
HP:0000696	HP:0008498	No permanent dentition	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000696	HP:0008498	No permanent dentition	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000696	HP:0008498	No permanent dentition	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000696	HP:0008498	No permanent dentition	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104

Genes (31) :ADAMTSL1 APC2 ATP6V1B2 AXIN2 CTSK EDA EDARADD FAM20A FGFR1 GJA1 IRF6 KCNJ2 LRP6 MIA3 MSX1 NPHS1 NSD1 PAX9 PIGF ROR2 RUNX2 SETD2 SLC37A4 SMARCB1 SUMO1 TBC1D24 TFAP2B TGFA TONSL WNT10A WNT10B

Diseases (19) :ORPHA:521445 ORPHA:821 ORPHA:79500 ORPHA:99798 OMIM:265800 ORPHA:763 OMIM:204690 OMIM:218400 OMIM:170390 OMIM:619269 ORPHA:839 OMIM:619356 OMIM:113000 OMIM:268310 OMIM:119600 ORPHA:79259 OMIM:614608 ORPHA:46627 ORPHA:93357

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