Disease | rickets |
Phenotype | C0015624|proximal renal tubular dysfunction |
Sentences | 1 |
PubMedID- 25523092 | Fanconi-bickel syndrome (fbs) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. |
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