Also known as mucopolysaccharidosis III, HEPARAN SULFATE SULFATASE DEFICIENCY, MPS IIIA - Sanfilippo syndrome A, MPS IIIB - Sanfilippo syndrome B, MPS IIIC - Sanfilippo syndrome C, MPS IIID - Sanfilippo syndrome D
via PubMed
mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain
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via Wikidata sitelinks · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).