PYCR1-related de Barsy syndrome
ARCL3B
exact
PYCR1 de Barsy syndrome
exact
PYCR1 deficiency
exact
cutis laxa, autosomal recessive, type IIIB
related
de Barsy syndrome caused by mutation in PYCR1
exact
pyrroline-5-carboxylate reductase 1 deficiency
exact
Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.
MONDO:0017569
de Barsy syndrome
is_a
MONDO:0100237
inherited cutis laxa
is_a
SPAPYUG7.05