Also known as ML II, mucolipidosis II, I-cell disease, Mucolipidosis 2, Ml 2 Alpha/Beta, N-acetylglucosamine 1-phosphotransferase deficiency, MUCOLIPIDOSIS II ALPHA/BETA,
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I-細胞疾病是一種遺傳病,其會導致溶小體酵素的缺失,引起細胞結構不正常。 此遺傳病的發生率未知,荷蘭研究指出約為640000分之1。 遺傳方面,其遺傳方式為體染色體隱性遺傳疾病。
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Human disease
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).