"DOID:2735"^^ . "MESH:D031845"^^ . "UMLS_CUI:C0917990"^^ . "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 NOTCH2 on chromosome 1p12."^^ . "UMLS_CUI:C0917715"^^ . "MESH:D030981"^^ . "acroosteolysis with osteoporosis and changes in skull and mandible"@en . "arthrodentoosteodysplasia"@en . . "Cheney syndrome"@en . "SNOMEDCT_US_2021_09_01:63122002"^^ . _:vb50951121 . "HJCYS"@en . "NCI:C35545"^^ . "NCI:C84745"^^ . "serpentine fibula-polycystic kidney syndrome"@en . . "OMIM mapping confirmed by DO. [SN]."^^ . _:vb50951121 . . "disease_ontology"^^ . _:vb50951121 . . "OMIM:102500"^^ . "DOID:2736"^^ . . "GARD:508"^^ . _:vb50951121 . _:vb50951121 . "SFPKS"@en . "Hajdu-Cheney syndrome"^^ .