- Hypophosphatemic rickets (HP:0004912). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:289176)
- Renal phosphate wasting (HP:0000117): High urine phosphate in the presence of hypophosphatemia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- 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:289176)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Enlargement of the wrists (HP:0003020). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Sclerotic vertebral endplates (HP:0004576): Sclerosis (increased density) affecting vertebral end plates. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Distal femoral bowing (HP:0005096): A bending or abnormal curvature of the distal portion of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Polyarticular arthritis (HP:0005764). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Rickets of the lower limbs (HP:0006463). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Renal hypophosphatemia (HP:0008732): Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Elevated alkaline phosphatase of bone origin (HP:0010639): An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Increased bone mineral density (HP:0011001): An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Abnormality of renal excretion (HP:0011036): An altered ability of the kidneys to void urine and/or specific substances. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Decreased circulating calcitriol concentration (HP:0012052): The concentration of calcitriol in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Abnormal circulating vitamin D concentration (HP:0100511): Concentration of vitamin D or a vitamin D metabolite in the blood circulation outside of normal limits. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Abnormal trabecular bone morphology (HP:0100671): Abnormal structure or form of trabecular bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289176)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289176)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289176)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289176)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289176)
- Tooth abscess (HP:0030757): A pocket of pus located within a region of a tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289176)
- Pseudo-fractures (HP:0100036): A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289176)
- Enthesitis (HP:0100686). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289176)
- Abnormal sacroiliac joint morphology (HP:0100781): An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289176)
These phenotypes are associated with the disease Autosomal recessive hypophosphatemic rickets (ORPHA:289176).
The following phenotypes are NOT associated with this disease:
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. (ORPHA:289176)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. (ORPHA:289176)
- Hypocalcemic tetany (HP:0003472): Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. Evidence: TAS. (ORPHA:289176)