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Results 1 - 5 of 5 for Hypophosphatemic "rickets," autosomal "recessive," 1
Did you mean hypophosphatemia "rickets," autosomal "recessive," 1?
  1. Hereditary hypophosphatemic rickets 
    ... hypophosphatemic vitamin D refractory rickets Genetic Testing Registry: Hypophosphatemic rickets, autosomal recessive, 1 Genetic Testing Registry: Hypophosphatemic rickets, autosomal recessive, 2 ...
    https://medlineplus.gov/.../hereditary-hypophosphatemic-rickets - Genetics
  2. ENPP1 gene 
    ... 1 Tests of ENPP1 PubMed ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2 NCBI Gene ClinVar Bacci S, De ...
    https://medlineplus.gov/genetics/gene/enpp1 - Genetics
  3. Genetics 
    ... called the "boy in a bubble" disease) Alpha-1-antitrypsin (AAT) ... , also called vitamin D -resistant rickets. CHROMOSOMAL DISORDERS ...
    https://medlineplus.gov/ency/article/002048.htm - Medical Encyclopedia
  4. SLC34A1 gene 
    ... with these mutations, diagnosed with hypophosphatemic ... and hypophosphatemic rickets, a bone disorder that often causes bone pain ...
    https://medlineplus.gov/genetics/gene/slc34a1 - Genetics
  5. Cystinosis 
    ... growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in ... organs. CTNS This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/cystinosis - Genetics