PYCR1-related de Barsy syndrome
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
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
SPAPYUG7.05