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