Hypophosphatasia

Orpha code: 436OMIM code: 241510

Definition

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
Classification

Disease

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

No additional description.

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