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 odontoid tissue morphology (HP:3000050)

Grandparent Node:
Abnormality of dental structure (HP:0011061)

Parent Node:
Abnormal dental enamel morphology (HP:0000682)

..Starting node
..Dental enamel pits (HP:0009722)

Term ID:

9722

Name:

Dental enamel pits

Synonym:

Dental enamel pits; Dental enamel pitting; Pitting of tooth enamel; Tooth enamel pits

Definition:

The presence of small depressions in the dental enamel.

Comments:

Reference:

HP:0009722

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amelogenesis imperfecta (HP:0000705)

Enamel hypomineralization (HP:0006285)

Enamel hypoplasia (HP:0006297)

Grayish enamel (HP:0000683)

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:0009722	HP:0009722	Dental enamel pits	0	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0009722	HP:0009722	Dental enamel pits	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0009722	HP:0009722	Dental enamel pits	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0009722	HP:0009722	Dental enamel pits	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48
HP:0009722	HP:0009722	Dental enamel pits	0	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III		38
HP:0009722	HP:0009722	Dental enamel pits	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124
HP:0009722	HP:0009722	Dental enamel pits	0	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0009722	HP:0009722	Dental enamel pits	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090

Genes (7) :AMBN COL17A1 DLX3 DSPP ITGB4 ITGB6 TSC1

Diseases (7) :OMIM:616270 OMIM:619787 ORPHA:251393 ORPHA:3352 OMIM:125500 OMIM:616221 OMIM:191100

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.