Human Phenotype Ontology

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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:
Abnormality of dental color (HP:0011073)

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

Term ID:

6286

Name:

Yellow-brown discoloration of the teeth

Synonym:

Yellow-brown discoloration of the teeth; Yellow-brown discolored teeth; Yellow-brown discoloured teeth; Yellow-brown tooth shade

Definition:

Comments:

Reference:

HP:0006286

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythrodontia (HP:0030756)

Grayish enamel (HP:0000683)

Green teeth (HP:0011075)

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

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:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC	.	50
HP:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent	16
HP:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	57
HP:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0006286	HP:0006286	Yellow-brown discoloration of the teeth	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	73

Genes (10) :CNNM4 DLX3 ENAM FAM20A ITGB6 KRT14 RELT ROGDI SATB1 SLC13A5

Diseases (9) :OMIM:217080 OMIM:104510 OMIM:204650 ORPHA:1031 OMIM:616221 ORPHA:69087 OMIM:618386 ORPHA:1946 OMIM:619229

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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