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Summary Literature (0)
DOID:2736 - Hajdu-Cheney syndrome


Disease Ontology Definition: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 the NOTCH2 gene on chromosome 1p12.

Synonyms: Cheney syndrome, HJCYS, SFPKS, acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia, serpentine fibula-polycystic kidney syndrome,

Xenbase Genes : notch2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007057 - Acroosteolysis dominant type


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), bone disease (is_a)