Phenotypes associated with the disease Regional odontodysplasia (ORPHA:83450):
- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Odontodysplasia (HP:0000694): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Eruption failure (HP:0000706): A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Pulp calcification (HP:0003771): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Yellow-brown discoloration of the teeth (HP:0006286). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Abnormal dental pulp morphology (HP:0006479): An abnormality of the dental pulp. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Abnormal primary tooth morphology (HP:0006481): Any abnormality of the primary tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Dental enamel pits (HP:0009722): The presence of small depressions in the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Abnormal dentin morphology (HP:0010299): Any abnormality of dentin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Abnormality of dental color (HP:0011073): A developmental defect of tooth color. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Hypocalcification of dental enamel (HP:0011084): A form of hypomineralization of enamel characterized by reduced calcification. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Tooth abscess (HP:0030757): A pocket of pus located within a region of a tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Jaw pain (HP:0040264): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83450)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83450)
- Hypoplasia of teeth (HP:0000685): Developmental hypoplasia of teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83450)
- Macrodontia (HP:0001572): Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83450)
- Multiple unerupted teeth (HP:0006283): The presence of multiple embedded tooth germs which have failed to erupt. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83450)
- Short dental root (HP:0006336): Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83450)
- Alveolar ridge overgrowth (HP:0009085): Increased width of the alveolar ridges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83450)
- Mandibular pain (HP:0200025): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83450)