Also known as Meckel-Gruber syndrome, Meckel–Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica, Meckel's syndrome
a rare, lethal, ciliopathic, genetic disorder with malformations of the urinary system, of central nervous system, hepatic developmental defects, and pulmonary hypoplasia.
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).