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:
Abnormality of dental structure (HP:0011061)

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

..Starting node
..Erythrodontia (HP:0030756)

Term ID:

30756

Name:

Erythrodontia

Synonym:

Red teeth

Definition:

Reddish, brown opalescent discoloration of teeth in normal light.

Comments:

Reference:

HP:0030756

Genes and Diseases:

Child Nodes:

Sister Nodes:

Grayish enamel (HP:0000683)

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:0030756	HP:0030756	Erythrodontia	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	29
HP:0030756	HP:0030756	Erythrodontia	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent	31
HP:0030756	HP:0030756	Erythrodontia	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	41
HP:0030756	HP:0030756	Erythrodontia	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41

Genes (3) :GATA1 UROD UROS

Diseases (3) :ORPHA:79277 ORPHA:95159 OMIM:263700

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