Hypophosphatasia

Orpha code: 436OMIM code: 241510

Definicja

A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.

Disease data
Klasyfikacja

Disease

Synonimy
HPP
Choroba Rathburna
Fosfoetanololaminuria
HPP
Phosphoethanolaminuria
Rathbun disease
Kod ORPHA
436
Kod OMIM
241510
Kod ICD10
E83.3
Kod ICD11
5C64.3

No additional description.

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