- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1031)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1031)
- 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: Very frequent (HP:0040281). (ORPHA:1031)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1031)
- 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: Very frequent (HP:0040281). (ORPHA:1031)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1031)
- Yellow-brown discoloration of the teeth (HP:0006286). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1031)
- Abnormality of dental color (HP:0011073): A developmental defect of tooth color. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1031)
- Increased circulating osteocalcin level (HP:0031428): An elevated level of osteocalcin in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1031)
- Abnormal circulating calcium-phosphate regulating hormone concentration (HP:0100530): Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1031)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1031)
- Gingival fibromatosis (HP:0000169): The presence of fibrosis of the gingiva. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1031)
- Enuresis (HP:0000805): Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1031)
- Hypocalciuria (HP:0003127): An abnormally decreased calcium concentration in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1031)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1031)
- 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:1031)
- Impaired renal concentrating ability (HP:0004727): A defect in the ability to concentrate the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1031)
- Impacted tooth (HP:0011079): A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1031)
- Hypophosphaturia (HP:0012365): An abnormally decreased phosphate concentration in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1031)
- Hypocitraturia (HP:0012405): A lower than normal concentration of citrate(3-) in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1031)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1031)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1031)
- Anterior open-bite malocclusion (HP:0009102): Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1031)
- Tooth agenesis (HP:0009804): The absence of one or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1031)
- Decreased serum creatinine (HP:0012101): An abnormally reduced amount of creatinine in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1031)
- Supernumerary tooth (HP:0011069): The presence of one or more teeth additional to the normal number. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1031)
These phenotypes are associated with the disease Enamel-renal syndrome (ORPHA:1031).