Human Phenotype Ontology

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 structure (HP:0011061)

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

Parent Node:
Abnormality of dental color (HP:0011073)

..Starting node
..Grayish enamel (HP:0000683)

Term ID:

683

Name:

Grayish enamel

Synonym:

Gray colored tooth enamel; Gray tooth shade; Grayish enamel; Grey coloured tooth enamel; Grey tooth shade; Greyish enamel

Definition:

A grey discoloration of the dental enamel.

Comments:

Reference:

HP:0000683

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythrodontia (HP:0030756)

Green teeth (HP:0011075)

White streaks/specks on enamel. (HP:0025123)

Yellow-brown discoloration of the teeth (HP:0006286)

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:0000683	HP:0000683	Grayish enamel	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0000683	HP:0000683	Grayish enamel	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120

Genes (2) :GALNS GLB1

Diseases (2) :OMIM:253000 OMIM:253010

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