. _:vb50938684 . "DOID:0060348"^^ . "UMLS_CUI:C1855840"^^ . _:vb50938684 . "HRD syndrome"@en . "elvira"^^ . "NCI:C133727"^^ . _:vb50938684 . "ORDO:2323"^^ . . "hypoparathyroidism-retardation-dysmorphism syndrome"^^ . "OMIM:241410"^^ . . . _:vb50938684 . _:vb50938684 . "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3."^^ . "GARD:411"^^ . "MESH:C537157"^^ . "hypoparathyroidism with short stature, mental retardation and seizures"@en . "2015-06-19T20:05:16Z"^^ . "disease_ontology"^^ . . "Sanjad-Sakati syndrome"@en . .