Also known as childhood hypophosphatasia (disorder), deficiency of alkaline phosphatase (disorder), deficiency of alkaline phosphatase (disorder) [Ambiguous], hypophospatasia, childhood, childhood hypophosphatasia, deficiency of alkaline phosphatase
Hypophosphatasia (; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, or '''Rathbun's syndrome; sometimes abbreviated HPP''') is a rare, and sometimes fatal, inherited metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization, respiratory compromise or vitamin B6 dependent seizures to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or os
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).