Phenotypes associated with the disease Dentinogenesis imperfecta (ORPHA:49042):
- Pulp obliteration (HP:0006350): Mineralized substance filling the entire dental pulp space. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49042)
- Abnormal dental root morphology (HP:0006486): An abnormality of the dental root. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:49042)
- Grayish enamel (HP:0000683): A gray discoloration of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49042)
- 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:49042)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49042)
- Generalized hypoplasia of dental enamel (HP:0006282): A generalized form of developmental hypoplasia of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49042)
- Yellow-brown discoloration of the teeth (HP:0006286). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49042)
- Abnormal dental pulp morphology (HP:0006479): An abnormality of the dental pulp. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49042)
- Abnormal dentin morphology (HP:0010299): Any abnormality of dentin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49042)
- Hypocalcification of dental enamel (HP:0011084): A form of hypomineralization of enamel characterized by reduced calcification. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49042)
- Fragile teeth (HP:0025124): A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:49042)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49042)
- Selective tooth agenesis (HP:0001592): Agenesis specifically affecting one of the classes incisor, premolar, or molar. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49042)
- Finger joint hypermobility (HP:0006094). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49042)
- Persistence of primary teeth (HP:0006335): Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49042)
- 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:49042)
- Hyperextensibility at elbow (HP:0010485): The ability of the elbow joint to move beyond its normal range of motion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49042)
- Knee joint hypermobility (HP:0045086): The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:49042)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:49042)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:49042)
- Prolonged bleeding time (HP:0003010): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:49042)