Also known as Partial 11Q Monosomy Syndrome, JBS, JACOBSEN SYNDROME, Distal monosomy 11q, Chromosome 11Q Deletion Syndrome, Distal deletion 11q, Monosomy 11qter, JACOBSEN SYNDROME; JBS
via PubMed
multiple congenital anomaly caused by deletion on chromosome 11, often featuring intellectual disabilities, dysmorphic features, delayed development and heart defects.
via Wikidata · CC0
via Wikidata sitelinks · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).