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PedAM

Pediatric Disease Annotations & Medicines




Disease dwarfism
Phenotype C0035579|rickets
Sentences 2
PubMedID- 22013525 Fanconi's further contribution to the subject came in 1936, when he recognized the similarities between these cases, referred to the disease as nephrotic-glycosuric dwarfism with hypophosphatemic rickets and suggested that the organic acids found in the urine might be amino acids [6].
PubMedID- 25006751 Clinically, the syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, and often alopecia.

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