DISEASES

Disease-gene associations mined from literature

Human genes for Hajdu-Cheney syndrome

Hajdu-Cheney syndrome [DOID:2736]

A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12.

Synonyms:  Hajdu-Cheney syndrome,  DOID:2736,  HajduCheney syndrome,  Hajdu-Cheney disease,  Hajdu-Cheney disorder ...

Linkouts:  OMIM