Search Ontology:
Human Disease

Hajdu-Cheney syndrome

Term ID
DOID:2736
Synonyms
  • acroosteolysis with osteoporosis and changes in skull and mandible
  • arthrodentoosteodysplasia
  • Cheney syndrome
  • HJCYS
  • serpentine fibula-polycystic kidney syndrome
  • SFPKS
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. (3)
References
Ontology
Human Disease   ( DOID:2736 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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