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:
Tooth agenesis (HP:0009804)

..Starting node
..Anodontia (HP:0000674)

Term ID:

674

Name:

Anodontia

Synonym:

Anodontia vera; Complete agenesis of all teeth; Complete anodontia; Complete dental agenesis; Failure of development of all teeth; Missing all teeth; Total absence of all teeth; Total anodontia

Definition:

The absence of all teeth from the normal series by a failure to develop.

Comments:

Reference:

HP:0000674

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agenesis of permanent teeth (HP:0006349)

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:0000674	HP:0000674	Anodontia	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	HP:0040283 - Occasional	87
HP:0000674	HP:0000674	Anodontia	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040283 - Occasional	87
HP:0000674	HP:0000674	Anodontia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000674	HP:0000674	Anodontia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000674	HP:0000674	Anodontia	0	EDA CL E G H	1896	3157	OMIM:313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1		115
HP:0000674	HP:0000674	Anodontia	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	86
HP:0000674	HP:0000674	Anodontia	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0000674	HP:0000674	Anodontia	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	56
HP:0000674	HP:0000674	Anodontia	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000674	HP:0000674	Anodontia	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0000674	HP:0000674	Anodontia	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0000674	HP:0000674	Anodontia	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0000674	HP:0000674	Anodontia	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0000674	HP:0000674	Anodontia	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0000674	HP:0000674	Anodontia	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0000674	HP:0000674	Anodontia	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0000674	HP:0000674	Anodontia	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0000674	HP:0000674	Anodontia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000674	HP:0000674	Anodontia	0	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2	HP:0040283 - Occasional	12
HP:0000674	HP:0000674	Anodontia	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000674	HP:0000674	Anodontia	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0000674	HP:0000674	Anodontia	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040283 - Occasional	4
HP:0000674	HP:0000674	Anodontia	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0000674	HP:0000674	Anodontia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98

Genes (17) :DCAF17 DVL1 DVL3 EDA EDAR EDARADD ERCC1 ERCC4 ERCC6 ERCC8 FLNA FZD2 GRHL3 IFT122 NECTIN1 RPS6KA3 WNT5A

Diseases (15) :OMIM:241080 ORPHA:3464 ORPHA:3107 OMIM:313500 OMIM:129490 OMIM:224900 ORPHA:90322 ORPHA:90321 ORPHA:90650 ORPHA:90652 OMIM:606713 OMIM:218330 OMIM:225060 ORPHA:3253 ORPHA:276630

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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