Phenotypes associated with the disease autosomal dominant hypophosphatemic rickets (OMIM:193100, an entry in Online Mendelian Inheritance in Man):
- Abnormality of the dentition (HP:0000164, a Human Phenotype Ontology term): Any abnormality of the teeth. Evidence: IEA. (OMIM:193100)
- Bone pain (HP:0002653, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: IEA. (OMIM:193100)
- Generalized muscle weakness (HP:0003324, a Human Phenotype Ontology term): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: IEA. (OMIM:193100)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: IEA. (OMIM:193100)
- Elevated circulating alkaline phosphatase concentration (HP:0003155, a Human Phenotype Ontology term): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: IEA. (OMIM:193100)
- Typified by incomplete penetrance (HP:0003829, a Human Phenotype Ontology term): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: IEA. (OMIM:193100)
- Rickets (HP:0002748, a Human Phenotype Ontology term): 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: IEA. (OMIM:193100)
- Abnormality of the lower limb (HP:0002814, a Human Phenotype Ontology term): An abnormality of the leg. Evidence: IEA. (OMIM:193100)
- Renal phosphate wasting (HP:0000117, a Human Phenotype Ontology term): High urine phosphate in the presence of hypophosphatemia. Evidence: IEA. (OMIM:193100)
- Osteomalacia (HP:0002749, a Human Phenotype Ontology term): 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: IEA. (OMIM:193100)
- Hypophosphatemic rickets (HP:0004912, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:193100)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:193100)
- Hypophosphatemia (HP:0002148, a Human Phenotype Ontology term): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:193100)