- Abnormal mandible morphology (HP:0000277): Any abnormality of the mandible, the bone of the lower jaw. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83451)
- Abnormal maxilla morphology (HP:0000326): An abnormality of the Maxilla (upper jaw bone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83451)
- Abnormal bone structure (HP:0003330): Any anomaly in the composite material or the layered arrangement of the bony skeleton. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83451)
- Abnormal trabecular bone morphology (HP:0100671): Abnormal structure or form of trabecular bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83451)
- Abnormal cementum morphology (HP:0100717): Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83451)
- Abnormal midface morphology (HP:0000309): An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83451)
- Periapical bone loss (HP:0000700): Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83451)
- Multiple impacted teeth (HP:0001571): The presence of multiple impacted teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83451)
- Hyperplasia of the maxilla (HP:0430028): Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83451)
- Oral ulcer (HP:0000155): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Atrophy of alveolar ridges (HP:0006308). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Abnormal primary tooth morphology (HP:0006481): Any abnormality of the primary tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Abnormal number of teeth (HP:0006483): The presence of an altered number of of teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Mandibular osteomyelitis (HP:0007626): Osteomyelitis of the lower jaw. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Speech articulation difficulties (HP:0009088): Impairment in the physical production of speech sounds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Avascular necrosis (HP:0010885): A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Supernumerary tooth (HP:0011069): The presence of one or more teeth additional to the normal number. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Multiple bony cystic lesions (HP:0012065): Presence of multiple cystic changes in multiple areas or multiple bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Jaw swelling (HP:0030793): Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
- Chronic infection (HP:0031035): Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83451)
These phenotypes are associated with the disease Florid cemento-osseous dysplasia (ORPHA:83451).