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:
Abnormal dental pulp morphology (HP:0006479)

..Starting node
..Dagger-shaped pulp calcifications (HP:0006302)

Term ID:

6302

Name:

Dagger-shaped pulp calcifications

Synonym:

Dagger shaped pulp denticles; Dagger shaped pulp stones

Definition:

Dagger-shaped calcifications in the dental pulp.

Comments:

Reference:

HP:0006302

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pulp calcification (HP:0003771)

Pulp obliteration (HP:0006350)

Taurodontia (HP:0000679)

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:0006302	HP:0006302	Dagger-shaped pulp calcifications	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16

Genes (1) :FAM20A

Diseases (1) :OMIM:204690

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