{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Inheirted BMF disorder with immune defect","Inherited BMFD with immune defect"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-728475/","orphanet_url":"https://www.orpha.net/en/disease/detail/728475","names":{"fr":{"name":"Aplasie médullaire constitutionnelle avec déficit immunitaire","synonyms":["Aplasie médullaire héréditaire avec déficit immunitaire"]},"de":{"name":"Hereditäres Knochenmarkversagen mit Immundefekt","synonyms":["Hereditäres BMFS mit Immundefizienz","Hereditäres Knochenmarkversagen-Syndrom mit Immundefekt"]},"es":{"name":"Trastorno hereditario de fallo medular con defecto inmunitario"},"it":{"name":"Malattia ereditaria da insufficienza del midollo osseo con difetto immunitario","synonyms":["BMFD ereditaria con difetto immunitario","Malattia ereditaria da BMF con difetto immunitario"]},"nl":{"name":"Erfelijk beenmergfalen met immuundefect","synonyms":["Erfelijk BMF met immuundefect"]},"pt":{"name":"Inherited bone marrow failure disorder with immune defect"},"pl":{"name":"Inherited bone marrow failure disorder with immune defect","synonyms":["Inheirted BMF disorder with immune defect","Inherited BMFD with immune defect"]},"cs":{"name":"Inherited bone marrow failure disorder with immune defect","synonyms":["Inheirted BMF disorder with immune defect","Inherited BMFD with immune defect"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183770,"name":"Rare genetic immune disease","classifications":[156]},{"orpha":98004,"name":"Rare immune disease","classifications":[195]}],"children":[{"orpha":53,"name":"Albers-Schönberg osteopetrosis","type":"Malformation syndrome"},{"orpha":2585,"name":"Ataxia-pancytopenia syndrome","type":"Malformation syndrome"},{"orpha":314399,"name":"Autosomal dominant aplasia and myelodysplasia","type":"Disease"},{"orpha":667,"name":"Autosomal recessive malignant osteopetrosis","type":"Malformation syndrome"},{"orpha":725898,"name":"Bone marrow failure-diabetes mellitus syndrome","type":"Disease"},{"orpha":313838,"name":"Coats plus syndrome","type":"Disease"},{"orpha":1775,"name":"Dyskeratosis congenita","type":"Disease"},{"orpha":84,"name":"Fanconi anemia","type":"Malformation syndrome"},{"orpha":3322,"name":"Hoyeraal-Hreidarsson syndrome","type":"Disease"},{"orpha":85179,"name":"Infantile osteopetrosis with neuroaxonal dysplasia","type":"Malformation syndrome"},{"orpha":210110,"name":"Intermediate osteopetrosis","type":"Malformation syndrome"},{"orpha":494433,"name":"MIRAGE syndrome","type":"Disease"},{"orpha":178389,"name":"Osteopetrosis-hypogammaglobulinemia syndrome","type":"Disease"},{"orpha":401764,"name":"Pancytopenia-developmental delay syndrome","type":"Disease"},{"orpha":726036,"name":"Red cell aplasia-microcephaly-seizure-developmental delay syndrome","type":"Disease"},{"orpha":3088,"name":"Revesz syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}