Also known as Jansen Disease, Jansen Metaphyseal Dysostosis, Jansen metaphyseal chondrodysplasia, Murk Jansen Type Metaphyseal Chondrodysplasia
metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).