Human Phenotype Ontology 
Grandparent Node:
expandAbnormal dentin morphology (HP:0010299)help
Grandparent Node:
expandAbnormal odontoid tissue morphology (HP:3000050)help
Parent Node:
expandDentinogenesis imperfecta (HP:0000703)help
..Starting node
..expandOdontodysplasia (HP:0000694)help
Term ID: 694
Name: Odontodysplasia
Synonym: Ghost teeth; Shell teeth; Teeth with dentinal dysplasia; Teeth with thin dentin and large pulp chambers; Teeth with type iii dentinogenesis imperfecta
Definition: The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.
Comments:
Reference: HP:0000694
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDentinogenesis imperfecta limited to primary teeth (HP:0011060) help
..expandDentinogenesis imperfecta of primary and permanent teeth (HP:0011086) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000694HP:0000694Odontodysplasia0DSPP CL E G H18343054OMIM:125500Dentinogenesis imperfecta, shields type III.38
HP:0000694HP:0000694Odontodysplasia0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemiaHP:0040282 - Frequent217


Genes (2) :DSPP PHEX

Diseases (2) :OMIM:125500 ORPHA:89936
 

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