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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: acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia, Cheney syndrome, HJCYS, serpentine fibula-polycystic kidney syndrome, SFPKS
Xenbase Genes
:
notch2
| 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)