Cornelia de Lange syndrome 1
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.
MONDO:0016033
Cornelia de Lange syndrome
is_a
MONDO:0019713
non-syndromic limb reduction defect
is_a
CDLS1
related
Cornelia De Lange syndrome type 1
exact
Cornelia de Lange syndrome 1
exact
Cornelia de Lange syndrome caused by mutation in NIPBL
exact
NIPBL Cornelia de Lange syndrome
exact
SPAC31A2.05c