Joubert syndrome 28
JBTS28
exact
Joubert syndrome 28
exact
Joubert syndrome caused by mutation in MKS1
exact
Joubert syndrome type 28
exact
MKS1 Joubert syndrome
exact
Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.
MONDO:0016364
Joubert syndrome with ocular defect
is_a
MONDO:0018772
Joubert syndrome
is_a
MONDO:1040068
MKS1-related ciliopathy
is_a