Disease-gene associations mined from literature

Human genes for Blau syndrome

Blau syndrome [DOID:0050678]

Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.

Synonyms:  Blau syndrome,  Blau disease,  Blau disorder,  DOID:0050678,  ARTHROCUTANEOUVEAL GRANULOMATOSIS ...

Linkouts:  OMIM #1 #2