Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome

Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome (disorder)

active

Code	`1295488006`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20231201

Synonyms

Autosomal recessive cutis laxa type IIIb
Disorder due to pyrroline-5-carboxylate reductase 1 deficiency
PYCR1-related de Barsy syndrome

Parents (2)

35524003Arthropathy associated with another disorder disorder
59252009de Barsey syndrome disorder

Children (0)

None (leaf concept).