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Hypophosphatemic "rickets," autosomal "recessive," 2
Did you mean hypophosphatemia "rickets," autosomal "recessive," 2?
- ... Hypophosphatemic rickets, autosomal recessive, 1 Genetic Testing Registry: Hypophosphatemic rickets, autosomal recessive, 2 Hypophosphatemic rickets National Organization for Rare Disorders (NORD) ...
- ... of ENPP1 PubMed ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2 NCBI Gene ClinVar Bacci S, De Cosmo ...
- ... CF) Phenylketonuria ( PKU ) Sickle cell anemia X-linked ... , also called vitamin D -resistant rickets. CHROMOSOMAL DISORDERS ...
- ... density (osteoporosis). Others, diagnosed with Fanconi renotubular syndrome 2, develop problems with kidney function and hypophosphatemic rickets, a bone disorder that often causes bone pain ...
- ... growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear ...