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 morphology (HP:0006482)

Parent Node:
Conical tooth (HP:0000698)

Parent Node:
Microdontia (HP:0000691)

..Starting node
..Small, conical teeth (HP:0200141)

Term ID:

200141

Name:

Small, conical teeth

Synonym:

Conical microdontia; Small, cone shaped teeth; Small, peg shaped teeth; Small, pointed teeth

Definition:

Comments:

Reference:

HP:0200141

Genes and Diseases:

Child Nodes:

Sister Nodes:

Generalized microdontia (HP:0006311)

Maxillary lateral incisor microdontia (HP:0001593)

Microdontia of primary teeth (HP:0006347)

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:0200141	HP:0200141	Small, conical teeth	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0200141	HP:0200141	Small, conical teeth	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0200141	HP:0200141	Small, conical teeth	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140

Genes (3) :ATP6V0A2 ATP6V1B2 TP63

Diseases (3) :ORPHA:2834 ORPHA:79499 OMIM:129400

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