"disease_ontology"^^ . "MESH:D029503"^^ . "OMIM:PS105650"^^ . . "DOID:1339"^^ . . . . "SNOMEDCT_US_2020_03_01:188588001"^^ . "Blackfan - Diamond syndrome"@en . "ORDO:124"^^ . "ICD10CM:D61.01"^^ . . "Xref MGI.\nOMIM mapping confirmed by DO. [SN]."^^ . "Diamond-Blackfan anemia"^^ . "GARD:6274"^^ . "chronic constitutional pure red cell anaemia"@en . "A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction."^^ . "NCI:C61236"^^ .