syndromic disease Jacobsen syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6744 https://www.malacards.org/card/jacobsen_syndrome telomeric deletion 11q icd11.foundation:27788176 Orphanet:2308 Jacobsen syndrome Del(11)(q23.3) OMIM:147791 MEDGEN:162878 MONDO:0007838 Del(11)(qter) 11q terminal deletion disorder NCIT:C75457 partial 11q monosomy syndrome DOID:0111723 distal monosomy 11q chromosome 11q deletion syndrome GARD:0000307 A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. monosomy 11qter UMLS:C0795841 SCTID:715438008 distal deletion 11q Jacobsen syndrome, Isolated cases JBS partial deletion of the long arm of chromosome 11 syndromic constitutional thrombocytopenia