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Human Disease
Hajdu-Cheney syndrome
- Term ID
- DOID:2736
- Synonyms
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- acroosteolysis with osteoporosis and changes in skull and mandible
- arthrodentoosteodysplasia
- Cheney syndrome
- 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
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- GARD:508
- MESH:D030981
- MESH:D031845
- Ontology
- Human Disease ( DOID:2736 )
- is a type of
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Genes Involved
Zebrafish Models