Autosomal recessive hypophosphatemic rickets

Orpha code: 289176OMIM code: 613312

Definicja

A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.

Disease data
Klasyfikacja

Disease

Synonimy
ARHR
ARHR
Kod ORPHA
289176
Kod OMIM
613312
Kod ICD10
E83.3
Kod ICD11
-

No additional description.

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