- Delayed epiphyseal ossification (HP:0002663). Evidence: IEA. (OMIM:600785)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. (OMIM:600785)
- Sparse bone trabeculae (HP:0002752). Evidence: IEA. (OMIM:600785)
- Bulging epiphyses (HP:0003013): A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). Evidence: IEA. (OMIM:600785)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. (OMIM:600785)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:600785)
- 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: IEA. (OMIM:600785)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: IEA. (OMIM:600785)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:600785)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: IEA. (OMIM:600785)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: TAS. (OMIM:600785)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: TAS. (OMIM:600785)
- Fibular bowing (HP:0010502): A bending or abnormal curvature of the fibula. Evidence: TAS. (OMIM:600785)
- Elevated circulating calcitriol concentration (HP:0031415): The concentration of calcitriol in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:600785)
- Generalized bone demineralization (HP:0006462): A generalized decrease in bone mineral density. Evidence: IEA. (OMIM:600785)
- Rickets (HP:0002748): Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. Evidence: TAS. (OMIM:600785)
- Rickets of the lower limbs (HP:0006463). Evidence: IEA. (OMIM:600785)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: IEA. (OMIM:600785)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: IEA. (OMIM:600785)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: IEA. (OMIM:600785)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: IEA. (OMIM:600785)
These phenotypes are associated with the disease vitamin D-dependent rickets, type 2B (OMIM:600785).