Scheie syndrome
Also known as mucopolysaccharidosis type 1S, mucopolysaccharidosis type IS, mucopolysaccharidosis type V, MPS IS, MPS I-S
mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan
Also known as mucopolysaccharidosis type 1S, mucopolysaccharidosis type IS, mucopolysaccharidosis type V, MPS IS, MPS I-S
mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).