OBO ID: DOID:2736
Term Name: Hajdu-Cheney syndrome Search Ontology:
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 Hajdu-Cheney syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NOTCH2 Hajdu-Cheney syndrome 102500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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