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:
Abnormal dentin morphology (HP:0010299)

Grandparent Node:
Abnormal odontoid tissue morphology (HP:3000050)

Parent Node:
Dentinogenesis imperfecta (HP:0000703)

..Starting node
..Dentinogenesis imperfecta of primary and permanent teeth (HP:0011086)

Term ID:

11086

Name:

Dentinogenesis imperfecta of primary and permanent teeth

Synonym:

Dentinogenesis imperfecta of adult and baby teeth; Dentinogenesis imperfecta of both sets of teeth

Definition:

Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.

Comments:

Reference:

HP:0011086

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dentinogenesis imperfecta limited to primary teeth (HP:0011060)

Odontodysplasia (HP:0000694)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011086	HP:0011086	Dentinogenesis imperfecta of primary and permanent teeth	0	CL E G H

Genes (0) :

Diseases (0) :

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