PPIB

peptidylprolyl isomerase B
OMIM: 123841
PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type IX 259440
R-numbers: R102
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type IX, 259440, Osteogenesis Imperfecta, Recessive, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, Osteogenesis Imperfecta Types VII, VIII And IX
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type IX 259440, Osteogenesis imperfecta, type IX 259440