Jacobsen syndrome
A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
MONDO:0002254
syndromic disease
is_a
MONDO:0016910
partial deletion of the long arm of chromosome 11
is_a
MONDO:0018795
syndromic constitutional thrombocytopenia
is_a
11q terminal deletion disorder
exact
Del(11)(q23.3)
exact
Del(11)(qter)
exact
JBS
related
Jacobsen syndrome
exact
Jacobsen syndrome, Isolated cases
exact
distal deletion 11q
exact
distal monosomy 11q
exact
monosomy 11qter
exact
telomeric deletion 11q
exact