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:
Abnormal dental pulp morphology (HP:0006479)

..Starting node
..Pulp calcification (HP:0003771)

Term ID:

3771

Name:

Pulp calcification

Synonym:

False denticles; False pulp stones; Pulp calcifications; Pulp denticles; Pulp stones; Pulpoliths; True denticles; True pulp stones

Definition:

Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.

Comments:

Reference:

HP:0003771

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dagger-shaped pulp calcifications (HP:0006302)

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:0003771	HP:0003771	Pulp calcification	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	373
HP:0003771	HP:0003771	Pulp calcification	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	660
HP:0003771	HP:0003771	Pulp calcification	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	325
HP:0003771	HP:0003771	Pulp calcification	0	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II	.	38
HP:0003771	HP:0003771	Pulp calcification	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0003771	HP:0003771	Pulp calcification	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent	18
HP:0003771	HP:0003771	Pulp calcification	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0003771	HP:0006302	Dagger-shaped pulp calcifications	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16

Genes (7) :COL1A1 COL5A1 COL5A2 DSPP FAM20A FGF3 GALNT3

Diseases (5) :ORPHA:287 OMIM:125420 OMIM:204690 ORPHA:2791 OMIM:211900

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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