Also known as Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Cardiocutaneous syndrome, Generalized lentiginosis (disorder), Gorlin syndrome II, Lentiginosis profusa syndrome, Moynahan syndrome,
via PubMed
rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).