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:
Abnormal dental root morphology (HP:0006486)

..Starting node
..Rootless teeth (HP:0011072)

Term ID:

11072

Name:

Rootless teeth

Synonym:

Absence of tooth root; Agenesis of tooth root; Aplasia of tooth root; Missing tooth root; Rootless teeth; Teeth without roots; Tooth with dentin dysplasia type i

Definition:

Comments:

Reference:

HP:0011072

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal size of the dental root (HP:0040220)

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:0011072	HP:0011072	Rootless teeth	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2

Genes (1) :CDH11

Diseases (1) :ORPHA:1299

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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