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Disease Ontology Browser
Hajdu-Cheney syndrome (DOID:2736)
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Synonyms: acroosteolysis with osteoporosis and changes in skull and mandible; arthrodentoosteodysplasia; Cheney syndrome; HJCYS; serpentine fibula-polycystic kidney syndrome; SFPKS
Alt IDs: OMIM:102500, DOID:2735, MESH:D030981, MESH:D031845, NCI:C35545, NCI:C84745, UMLS_CUI:C0917715, UMLS_CUI:C0917990
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory