Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162949 Orphanet classification of rare hematological diseases 97992 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97992 Rare hematologic disease Category 68347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68347 Tumor of hematopoietic and lymphoid tissues Category 125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 Bloom syndrome Disease 98292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98292 Mastocytosis Category 2467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2467 Systemic mastocytosis Clinical group 98848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98848 Indolent systemic mastocytosis Disease 98849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98849 Systemic mastocytosis with associated hematologic neoplasm Disease 98850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850 Aggressive systemic mastocytosis Disease 98851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98851 Mast cell leukemia Disease 566393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566393 Acute mast cell leukemia Clinical subtype 566396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396 Chronic mast cell leukemia Clinical subtype 158775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775 Smoldering systemic mastocytosis Disease 158778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158778 Isolated bone marrow mastocytosis Disease 66646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646 Cutaneous mastocytosis Clinical group 79455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455 Cutaneous mastocytoma Disease 79456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79456 Diffuse cutaneous mastocytosis Disease 280785 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785 Bullous diffuse cutaneous mastocytosis Clinical subtype 280794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794 Pseudoxanthomatous diffuse cutaneous mastocytosis Clinical subtype 79457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457 Maculopapular cutaneous mastocytosis Disease 90389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389 Telangiectasia macularis eruptiva perstans Clinical subtype 158766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766 Typical urticaria pigmentosa Clinical subtype 158769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769 Plaque-form urticaria pigmentosa Clinical subtype 158772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772 Nodular urticaria pigmentosa Clinical subtype 66661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66661 Mast cell sarcoma Disease 66662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66662 Extracutaneous mastocytoma Disease 171895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171895 Myeloid hemopathy Category 519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519 Acute myeloid leukemia Clinical group 86845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845 Acute myeloid leukaemia with myelodysplasia-related features Disease 86846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome Category 102379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Disease 102381 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Disease 164726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation Disease 86851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86851 Acute leukemia of ambiguous lineage Category 530995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995 Mixed phenotype acute leukemia Disease 589534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) Etiological subtype 589595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589595 Mixed phenotype acute leukemia with t(v;11q23.3) Etiological subtype 98835 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835 Acute undifferentiated leukemia Disease 98277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98277 Acute myeloid leukemia with recurrent genetic anomaly Category 520 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520 Acute promyelocytic leukemia Disease 98829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Disease 98831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831 Acute myeloid leukemia with 11q23 abnormalities Disease 102724 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation Disease 319480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480 Acute myeloid leukemia with CEBPA somatic mutations Disease 370026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation Disease 402014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014 Acute myeloid leukemia with t(6;9)(p23;q34) Disease 402017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017 Acute myeloid leukemia with t(9;11)(p22;q23) Disease 402020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) Disease 402023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Disease 402026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026 Acute myeloid leukemia with NPM1 somatic mutations Disease 585867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) Disease 167714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167714 Unclassified acute myeloid leukemia Category 318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=318 Acute erythroid leukemia Disease 518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518 Acute megakaryoblastic leukemia Disease 99887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887 Acute megakaryoblastic leukemia in children with Down syndrome Clinical subtype 329469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469 Acute megakaryoblastic leukemia in children without Down syndrome Clinical subtype 662934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662934 Acute megakaryoblastic leukemia in adult Clinical subtype 86843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843 Acute panmyelosis with myelofibrosis Disease 86849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849 Acute basophilic leukemia Disease 86850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850 Myeloid sarcoma Disease 98832 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832 Acute myeloid leukemia with minimal differentiation Disease 98833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833 Acute myeloblastic leukemia without maturation Disease 98834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834 Acute myeloblastic leukemia with maturation Disease 517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517 Acute myelomonocytic leukemia Disease 514 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514 Acute monoblastic/monocytic leukemia Disease 319465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465 Inherited acute myeloid leukemia Disease 52688 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688 Myelodysplastic syndrome Clinical group 75564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564 Acquired idiopathic sideroblastic anemia Disease 86836 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86836 Refractory cytopenia with multilineage dysplasia Clinical group 98826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826 Myelodysplastic neoplasm with low blasts Disease 98827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98827 Unclassified myelodysplastic syndrome Disease 508542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Disease 86839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839 Myelodysplastic neoplasm with increased blasts Disease 100019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019 Myelodysplastic neoplasm with increased blasts type 1 Clinical subtype 100020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020 Myelodysplastic neoplasm with increased blasts type 2 Clinical subtype 86841 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Disease 168960 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960 Refractory anemia with excess blasts in transformation Disease 495930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930 Familial monosomy 7 syndrome Disease 98274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98274 Myeloproliferative neoplasm Clinical group 488280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280 14q32 duplication syndrome Disease 3318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318 Essential thrombocythemia Disease 521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521 Chronic myeloid leukemia Disease 824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824 Primary myelofibrosis Disease 729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729 Polycythemia vera Disease 86829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829 Chronic neutrophilic leukemia Disease 86830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830 Chronic myeloproliferative disease, unclassifiable Disease 168940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940 Chronic eosinophilic leukemia Disease 168956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956 Hypereosinophilic syndrome Clinical group 3260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260 Idiopathic hypereosinophilic syndrome Disease 314950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950 Primary hypereosinophilic syndrome Disease 314962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962 Secondary hypereosinophilic syndrome Disease 314970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970 Lymphocytic hypereosinophilic syndrome Clinical subtype 420611 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611 Transient myeloproliferative syndrome Disease 480851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851 Hereditary thrombocytopenia with early-onset myelofibrosis Disease 675775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome Disease 98275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98275 Myelodysplastic/myeloproliferative disease Clinical group 86834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834 Juvenile myelomonocytic leukemia Disease 98823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823 Chronic myelomonocytic leukemia Disease 98824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824 Atypical chronic myeloid leukemia Disease 98825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98825 Unclassified myelodysplastic/myeloproliferative disease Disease 168943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Category 168947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Disease 168950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Disease 168953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Disease 589542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement Disease 171898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171898 Lymphoid hemopathy Category 3261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 Autoimmune lymphoproliferative syndrome Disease 98282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98282 Plasma cell tumor Category 2905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905 POEMS syndrome Disease 29073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073 Multiple myeloma Disease 85443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 AL amyloidosis Disease 314701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 Primary systemic amyloidosis Clinical subtype 314709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 Primary localized amyloidosis Clinical subtype 86855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855 Plasmacytoma Disease 100021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021 Primary plasmacytoma of the bone Clinical subtype 100022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022 Extramedullary soft tissue plasmacytoma Clinical subtype 86861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861 Non-amyloid monoclonal immunoglobulin deposition disease Disease 93556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556 Heavy chain deposition disease Clinical subtype 93557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557 Light and heavy chain deposition disease Clinical subtype 93558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558 Light chain deposition disease Clinical subtype 86864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864 Heavy chain disease Disease 100024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024 Mu-heavy chain disease Clinical subtype 100025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025 Alpha-heavy chain disease Clinical subtype 100026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026 Gamma-heavy chain disease Clinical subtype 454714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714 Plasma cell leukemia Disease 98287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98287 Histiocytic and dendritic cell tumor Category 98288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98288 Macrophage or histiocytic tumor Category 86896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896 Histiocytic sarcoma Disease 98289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98289 Dendritic cell tumor Category 389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389 Langerhans cell histiocytosis Disease 687733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687733 Pulmonary Langerhans cell histiocytosis Clinical subtype 687741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687741 Multisystem Langerhans cell histiocytosis Clinical subtype 687738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687738 Single-system multifocal Langerhans cell histiocytosis Clinical subtype 687730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687730 Unifocal Langerhans cell histiocytosis Clinical subtype 86897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897 Langerhans cell sarcoma Disease 86900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900 Interdigitating dendritic cell sarcoma Disease 86903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86903 Dendritic cell sarcoma not otherwise specified Disease 158019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019 Indeterminate cell histiocytosis Disease 98290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98290 Immunodeficiency-associated lymphoproliferative disease Category 70568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568 Post-transplant lymphoproliferative disease Disease 86904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86904 Methotrexate-associated lymphoproliferative disorders Disease 98291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98291 Lymphoproliferative disease associated with primary immune disease Category 675628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome Disease 223735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223735 Lymphoma Category 547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=547 Non-Hodgkin lymphoma Category 513 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513 Acute lymphoblastic leukemia Clinical group 99860 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99860 Precursor B-cell acute lymphoblastic leukemia Disease 585877 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality Etiological subtype 641375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375 B-lymphoblastic leukemia/lymphoma with t(17;19) Etiological subtype 585909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) Etiological subtype 585918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) Etiological subtype 585929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) Etiological subtype 585936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy Etiological subtype 585942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy Etiological subtype 585948 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) Etiological subtype 585956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) Etiological subtype 641372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) Etiological subtype 99861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861 Precursor T-cell acute lymphoblastic leukemia Disease 171915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171915 B-cell non-Hodgkin lymphoma Category 300842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300842 Indolent B-cell non-Hodgkin lymphoma Category 545 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545 Follicular lymphoma Disease 33226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226 Waldenström macroglobulinemia Disease 58017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017 Classic hairy cell leukemia Disease 67038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038 B-cell chronic lymphocytic leukemia Disease 178557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557 Indolent primary cutaneous B-cell lymphoma Clinical group 178536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536 Primary cutaneous marginal zone B-cell lymphoma Disease 178540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540 Primary cutaneous follicle center lymphoma Disease 300878 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878 Hairy cell leukemia variant Disease 300912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300912 Marginal zone lymphoma Clinical group 52417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417 MALT lymphoma Disease 86854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854 Splenic marginal zone lymphoma Disease 86867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867 Nodal marginal zone B-cell lymphoma Disease 300869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300869 Splenic diffuse red pulp small B-cell lymphoma Disease 443159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443159 Lymphoplasmacytic lymphoma without IgM production Disease 300846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300846 Aggressive B-cell non-Hodgkin lymphoma Category 543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543 Burkitt lymphoma Disease 544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544 Diffuse large B-cell lymphoma Clinical group 86869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869 Lymphomatoid granulomatosis Disease 98838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838 Primary mediastinal large B-cell lymphoma Disease 98839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839 Intravascular large B-cell lymphoma Disease 289661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma Disease 300849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300849 Diffuse large B-cell lymphoma of the central nervous system Disease 300857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857 T-cell/histiocyte rich large B cell lymphoma Disease 300888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300888 Diffuse large B-cell lymphoma with chronic inflammation Disease 364043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043 ALK-positive large B-cell lymphoma Disease 48686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686 Primary effusion lymphoma Disease 52416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416 Mantle cell lymphoma Disease 86852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852 B-cell prolymphocytic leukemia Disease 178554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554 Aggressive primary cutaneous B-cell lymphoma Clinical group 178544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544 Primary cutaneous diffuse large B-cell lymphoma, leg type Disease 289666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289666 Plasmablastic lymphoma Disease 480541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement Disease 171918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171918 T-cell non-Hodgkin lymphoma Category 70568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568 Post-transplant lymphoproliferative disease Disease 86870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870 Blastic plasmacytoid dendritic cell neoplasm Disease 86871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86871 T-cell prolymphocytic leukemia Disease 86880 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880 Enteropathy-associated T-cell lymphoma Disease 86882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882 Hepatosplenic T-cell lymphoma Disease 86886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886 Angioimmunoblastic T-cell lymphoma Disease 98841 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841 Anaplastic large cell lymphoma Disease 300895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895 ALK-positive anaplastic large cell lymphoma Histopathological subtype 300903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903 ALK-negative anaplastic large cell lymphoma Histopathological subtype 171901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901 Primary cutaneous T-cell lymphoma Category 178548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548 Indolent primary cutaneous T-cell lymphoma Clinical group 541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541 Primary cutaneous CD30+ T-cell lymphoproliferative disease Clinical group 98842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842 Lymphomatoid papulosis Disease 300865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 Primary cutaneous anaplastic large cell lymphoma Disease 86884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884 Subcutaneous panniculitis-like T-cell lymphoma Disease 178522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma Disease 178566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566 Mycosis fungoides and variants Clinical group 2584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 Classic mycosis fungoides Disease 33111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111 Granulomatous slack skin Disease 178512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512 Folliculotropic mycosis fungoides Disease 178517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517 Localized pagetoid reticulosis Disease 178551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551 Aggressive primary cutaneous T-cell lymphoma Clinical group 3162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 Sézary syndrome Disease 86875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875 Adult T-cell leukemia/lymphoma Disease 86879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879 Extranodal nasal NK/T cell lymphoma Disease 86885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified Disease 178528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Disease 178533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533 Primary cutaneous gamma/delta-positive T-cell lymphoma Disease 364033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Disease 364039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039 Hydroa vacciniforme-like lymphoma Disease 667662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667662 Breast implant-associated anaplastic large cell lymphoma Disease 652658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658 Monomorphic epitheliotropic intestinal T-cell lymphoma Disease 512034 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512034 Large granular lymphocyte leukemia Clinical group 86872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872 T-cell large granular lymphocyte leukemia Disease 86873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873 Aggressive NK-cell leukemia Disease 512017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017 Chronic lymphoproliferative disorder of natural killer cells Disease 652650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652650 Nodal T-follicular helper cell lymphoma, follicular type Disease 98293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98293 Hodgkin lymphoma Clinical group 391 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391 Classic Hodgkin lymphoma Disease 98843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843 Classic Hodgkin lymphoma, nodular sclerosis type Histopathological subtype 98844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844 Classic Hodgkin lymphoma, mixed cellularity type Histopathological subtype 98845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845 Classic Hodgkin lymphoma, lymphocyte-rich type Histopathological subtype 98846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846 Classic Hodgkin lymphoma, lymphocyte-depleted type Histopathological subtype 86893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893 Nodular lymphocyte predominant Hodgkin lymphoma Disease 168966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966 Composite lymphoma Disease 279911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279911 Primary organ-specific lymphoma Category 2420 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420 Primary pulmonary lymphoma Disease 542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542 Primary cutaneous lymphoma Category 171901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901 Primary cutaneous T-cell lymphoma Category 178548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548 Indolent primary cutaneous T-cell lymphoma Clinical group 541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541 Primary cutaneous CD30+ T-cell lymphoproliferative disease Clinical group 98842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842 Lymphomatoid papulosis Disease 300865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 Primary cutaneous anaplastic large cell lymphoma Disease 86884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884 Subcutaneous panniculitis-like T-cell lymphoma Disease 178522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma Disease 178566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566 Mycosis fungoides and variants Clinical group 2584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 Classic mycosis fungoides Disease 33111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111 Granulomatous slack skin Disease 178512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512 Folliculotropic mycosis fungoides Disease 178517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517 Localized pagetoid reticulosis Disease 178551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551 Aggressive primary cutaneous T-cell lymphoma Clinical group 3162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 Sézary syndrome Disease 86875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875 Adult T-cell leukemia/lymphoma Disease 86879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879 Extranodal nasal NK/T cell lymphoma Disease 86885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified Disease 178528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Disease 178533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533 Primary cutaneous gamma/delta-positive T-cell lymphoma Disease 178563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563 Primary cutaneous B-cell lymphoma Category 178554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554 Aggressive primary cutaneous B-cell lymphoma Clinical group 178544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544 Primary cutaneous diffuse large B-cell lymphoma, leg type Disease 178557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557 Indolent primary cutaneous B-cell lymphoma Clinical group 178536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536 Primary cutaneous marginal zone B-cell lymphoma Disease 178540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540 Primary cutaneous follicle center lymphoma Disease 46135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135 Primary central nervous system lymphoma Disease 97285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285 Thyroid lymphoma Disease 279897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897 Primary oculocerebral lymphoma Disease 314684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684 Primary bone lymphoma Disease 319667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319667 Primary lymphoma of the conjunctiva Disease 268114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 RAS-associated autoimmune leukoproliferative disease Disease 300324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324 Persistent polyclonal B-cell lymphocytosis Disease 160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160 Castleman disease Disease 93685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93685 Unicentric Castleman disease Clinical subtype 570438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438 HHV-8-associated multicentric Castleman disease Clinical subtype 570431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570431 Idiopathic multicentric Castleman disease Clinical subtype 529468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529468 Monoclonal mast cell activation syndrome Disease 707993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707993 Methemoglobinemia-related cyanosis Category 621 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621 Autosomal recessive methemoglobinemia Disease 330041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041 Hemoglobin M disease Disease 464453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464453 Acquired methemoglobinemia Disease 619233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome Disease 86816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816 Congenital analbuminemia Disease 98427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98427 Polycythemia Clinical group 729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729 Polycythemia vera Disease 90042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042 Primary familial polycythemia Disease 98428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98428 Secondary polycythemia Category 238536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238536 Congenital secondary polycythemia Category 238557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557 Chuvash erythrocytosis Disease 247378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378 Autosomal recessive secondary polycythemia not associated with VHL gene Disease 247511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511 Autosomal dominant secondary polycythemia Disease 238547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238547 Acquired secondary polycythemia Category 90041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041 Gaisböck syndrome Disease 324299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299 Multiple paragangliomas associated with polycythemia Disease 98429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98429 Rare coagulation disorder Category 182054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182054 Rare thrombotic disease of hematologic origin Category 248358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248358 Rare thrombotic disorder due to a coagulation factors defect Category 248361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248361 Rare thrombotic disorder due to a constitutional coagulation factors defect Category 330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330 Congenital factor XII deficiency Disease 3324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3324 Familial thrombomodulin anomalies Disease 83639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Disease 217454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454 Rare hereditary thrombophilia Clinical group 743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743 Severe hereditary thrombophilia due to congenital protein S deficiency Disease 745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 Severe hereditary thrombophilia due to congenital protein C deficiency Disease 82 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 Hereditary thrombophilia due to congenital antithrombin deficiency Disease 217467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Disease 248365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248365 Rare thrombotic disorder due to an acquired coagulation factors defect Category 698914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698914 Platelet-activating anti-platelet factor 4 disorder Clinical group 3325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3325 Classic heparin-induced thrombocytopenia Disease 698945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698945 Autoimmune heparin-induced thrombocytopenia Disease 699021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699021 Spontaneous heparin-induced thrombocytopenia Disease 699029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699029 Vaccine-induced immune thrombotic thrombocytopenia Disease 464343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464343 Catastrophic antiphospholipid syndrome Disease 26349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26349 Protein S acquired deficiency Disease 49566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566 Acquired purpura fulminans Disease 90041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041 Gaisböck syndrome Disease 91139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91139 Simple cryoglobulinemia Disease 80 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=80 Antiphospholipid syndrome Disease 248368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248368 Rare thrombotic disorder due to a platelet anomaly Category 54057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057 Thrombotic thrombocytopenic purpura Disease 93583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583 Congenital thrombotic thrombocytopenic purpura Clinical subtype 93585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93585 Immune-mediated thrombotic thrombocytopenic purpura Clinical subtype 248401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248401 Rare thrombotic disorder due to a constitutional platelet anomaly Category 71493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493 Familial thrombocytosis Disease 329319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 Thrombocythemia with distal limb defects Disease 248404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248404 Rare thrombotic disorder due to an acquired platelet anomaly Category 3318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318 Essential thrombocythemia Disease 248308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248308 Rare hemorrhagic disorder Category 2330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2330 Kasabach-Merritt phenomenon Particular clinical situation in a disease or syndrome 717585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717585 Kasabach-Merritt-like phenomenon Particular clinical situation in a disease or syndrome 248315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248315 Rare hemorrhagic disorder due to a coagulation factors defect Category 68334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect Category 600691 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600691 Combined deficiency of factor VII and factor X Disease 3151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Disease 448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448 Hemophilia Clinical group 98878 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98878 Hemophilia A Disease 169802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802 Severe hemophilia A Clinical subtype 169805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805 Moderate hemophilia A Clinical subtype 169808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808 Mild hemophilia A Clinical subtype 177926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926 Bleeding disorder in hemophilia A carriers Clinical subtype 98879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98879 Hemophilia B Disease 169793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793 Severe hemophilia B Clinical subtype 169796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796 Moderate hemophilia B Clinical subtype 169799 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799 Mild hemophilia B Clinical subtype 177929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929 Bleeding disorder in hemophilia B carriers Clinical subtype 617930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617930 Hemophilia B Leyden Clinical subtype 326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326 Congenital factor V deficiency Disease 335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335 Congenital fibrinogen deficiency Disease 98880 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98880 Familial afibrinogenemia Clinical subtype 98881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881 Familial dysfibrinogenemia Clinical subtype 101041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041 Familial hypofibrinogenemia Clinical subtype 248408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408 Familial hypodysfibrinogenemia Clinical subtype 79 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79 Congenital alpha2-antiplasmin deficiency Disease 331 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331 Congenital factor XIII deficiency Disease 903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903 Von Willebrand disease Disease 166078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078 Von Willebrand disease type 1 Clinical subtype 166081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081 Von Willebrand disease type 2 Clinical subtype 166084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 Von Willebrand disease type 2A Clinical subtype 166087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087 Von Willebrand disease type 2B Clinical subtype 166090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090 Von Willebrand disease type 2M Clinical subtype 166093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093 Von Willebrand disease type 2N Clinical subtype 166096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096 Von Willebrand disease type 3 Clinical subtype 329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329 Congenital factor XI deficiency Disease 465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465 Congenital plasminogen activator inhibitor type 1 deficiency Disease 483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483 Congenital high-molecular-weight kininogen deficiency Disease 749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749 Congenital prekallikrein deficiency Disease 35909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909 Combined deficiency of factor V and factor VIII Disease 169826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169826 Congenital vitamin K-dependent coagulation factors deficiency Category 327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327 Congenital factor VII deficiency Disease 325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325 Congenital factor II deficiency Disease 328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328 Congenital factor X deficiency Disease 98434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 Hereditary combined deficiency of vitamin K-dependent clotting factors Disease 178396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Disease 599519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599519 Factor V short isoforms-related bleeding disorder Disease 391320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320 East Texas bleeding disorder Etiological subtype 599579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599579 Factor V Amsterdam bleeding disorder Etiological subtype 600194 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600194 Factor V Atlanta bleeding disorder Etiological subtype 436169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169 Thrombomodulin-related bleeding disorder Disease 166775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect Category 26348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26348 Acquired prothrombin deficiency Disease 99147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99147 Acquired von Willebrand syndrome Disease 599507 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599507 Acquired factor XI deficiency Disease 599495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599495 Acquired factor VII deficiency Disease 599501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599501 Acquired factor X deficiency Disease 599480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599480 Acquired hemophilia A Disease 599490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599490 Acquired factor V deficiency Disease 599485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599485 Acquired hemophilia B Disease 599513 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599513 Acquired factor XIII deficiency Disease 248326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248326 Rare hemorrhagic disorder due to a platelet anomaly Category 71202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly Category 275729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia Category 477794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477794 Syndromic constitutional thrombocytopenia Category 674653 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674653 Actinomyopathy-associated syndromic thrombocytopenia Disease 652522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome Disease 480851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851 Hereditary thrombocytopenia with early-onset myelofibrosis Disease 3204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 Stormorken-Sjaastad-Langslet syndrome Disease 3320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 Thrombocytopenia-absent radius syndrome Malformation syndrome 71289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Malformation syndrome 182050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 MYH9-related syndromic thrombocytopenia Disease 602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 GNE myopathy Disease 2308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 Jacobsen syndrome Malformation syndrome 220448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448 Macrothrombocytopenia with mitral valve insufficiency Disease 734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734 Alpha delta granule deficiency Disease 98456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98456 Dense granule disease Category 906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 Wiskott-Aldrich syndrome Disease 167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Chédiak-Higashi syndrome Disease 71290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 Familial platelet disorder with associated myeloid malignancy Disease 79430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 Hermansky-Pudlak syndrome Disease 183678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Clinical subtype 664500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency Clinical subtype 664511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency Clinical subtype 231500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency Clinical subtype 231512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency Clinical subtype 231531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency Clinical subtype 487796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 Takenouchi-Kosaki syndrome Malformation syndrome 494444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Disease 261323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 21q22.11q22.12 microdeletion syndrome Malformation syndrome 477797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477797 Isolated constitutional thrombocytopenia Category 220452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220452 Isolated hereditary giant platelet disorder Category 438207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207 Severe autosomal recessive macrothrombocytopenia Disease 274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274 Bernard-Soulier syndrome Disease 67044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 Thrombocytopenia with congenital dyserythropoietic anemia Disease 140957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957 Autosomal dominant macrothrombocytopenia Disease 98455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98455 Alpha granule disease Category 721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721 Gray platelet syndrome Disease 220436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436 Quebec platelet disorder Disease 370127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370127 Medich giant platelet syndrome Disease 370131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370131 White platelet syndrome Disease 851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851 Paris-Trousseau thrombocytopenia Disease 363727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia Disease 268322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322 Hereditary thrombocytopenia with normal platelets Disease 852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852 X-linked thrombocytopenia with normal platelets Etiological subtype 168629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629 Autosomal thrombocytopenia with normal platelets Etiological subtype 71290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 Familial platelet disorder with associated myeloid malignancy Disease 3319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 Congenital amegakaryocytic thrombocytopenia Disease 220443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220443 Bleeding diathesis due to thromboxane synthesis deficiency Disease 248340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340 Isolated delta-storage pool disease Disease 466806 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806 Autosomal dominant thrombocytopenia with platelet secretion defect Disease 566192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192 Congenital autosomal recessive small-platelet thrombocytopenia Disease 275736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275736 Rare hemorrhagic disorder due to a qualitative platelet defect Category 849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849 Glanzmann thrombasthenia Disease 477787 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Disease 806 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806 Scott syndrome Disease 36355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355 Bleeding disorder due to P2Y12 defect Disease 52530 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530 Pseudo-von Willebrand disease Disease 73271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271 Bleeding diathesis due to a collagen receptor defect Disease 98885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885 Bleeding diathesis due to glycoprotein VI deficiency Etiological subtype 98886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency Etiological subtype 420566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566 Bleeding disorder due to CalDAG-GEFI deficiency Disease 248347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248347 Rare hemorrhagic disorder due to an acquired platelet anomaly Category 464321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Disease 457077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457077 TAFRO syndrome Disease 244242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242 HELLP syndrome Disease 853 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=853 Fetal and neonatal alloimmune thrombocytopenia Disease 71203 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71203 Autoimmune thrombocytopenia Clinical group 3002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3002 Immune thrombocytopenia Disease 1959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959 Evans syndrome Disease 438159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 STAT3-related early-onset multisystem autoimmune disease Disease 108997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108997 Rare anemia Category 1047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1047 Sideroblastic anemia Category 75564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564 Acquired idiopathic sideroblastic anemia Disease 98362 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98362 Constitutional sideroblastic anemia Category 699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 Pearson syndrome Disease 2598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 Mitochondrial myopathy and sideroblastic anemia Disease 2802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 X-linked sideroblastic anemia and spinocerebellar ataxia Disease 49827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 Thiamine-responsive megaloblastic anemia syndrome Disease 75563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 X-linked sideroblastic anemia Disease 255132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 Adult-onset autosomal recessive sideroblastic anemia Disease 260305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305 Autosomal recessive sideroblastic anemia Disease 300298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 Severe congenital hypochromic anemia with ringed sideroblasts Disease 369861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Disease 68364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68364 Hemoglobinopathy Category 90039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039 Hemoglobin D disease Disease 275752 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275752 Sickle cell disease Category 232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 Sickle cell anemia Disease 251359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359 Sickle cell-beta-thalassemia disease Disease 695140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695140 Sickle cell-beta zero-thalassemia Etiological subtype 695147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695147 Sickle cell-beta plus-thalassemia Etiological subtype 251365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365 Sickle cell S-C disease Disease 251380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Disease 700085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700085 Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant Disease 700107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700107 Sickle cell S-other specified hemoglobin variant Clinical subtype 251370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370 Sickle cell S-D Punjab disease Clinical subtype 251375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375 Sickle cell S-E disease Clinical subtype 700090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700090 Sickle cell S-O Arab disease Clinical subtype 699822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699822 Sickle cell S-Lepore disease Clinical subtype 2132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132 Hemoglobin C disease Disease 707792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707792 Unstable gamma globin chain variant disease Disease 715147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715147 Low oxygen affinity hemoglobin disease Disease 715154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715154 Low oxygen affinity alpha chain hemoglobin disease Etiological subtype 715157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715157 Low oxygen affinity beta chain hemoglobin disease Etiological subtype 280615 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615 Low oxygen affinity gamma chain hemoglobin disease Etiological subtype 707786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707786 Thalassemia Category 2133 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 Hemoglobin E disease Disease 275745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275745 Alpha-thalassemia and related disorders Category 707789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707789 Unstable alpha globin chain variant disease Disease 846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846 Alpha-thalassemia Clinical group 93616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 Hemoglobin H disease Disease 163596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 Hemoglobin Bart's fetalis syndrome Disease 232288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232288 Syndrome with alpha-thalassemia as a major feature Category 847 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 X-linked alpha-thalassemia-intellectual disability syndrome Malformation syndrome 98791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Malformation syndrome 231401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401 Alpha-thalassemia-myelodysplastic syndrome Disease 275749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275749 Beta-thalassemia and related disorders Category 848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 Beta-thalassemia Clinical group 231214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 Beta-thalassemia major Disease 231222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 Beta-thalassemia intermedia Disease 715143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715143 Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene Disease 231230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230 Beta-thalassemia associated with another hemoglobin anomaly Category 231242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242 Hemoglobin C-beta-thalassemia syndrome Disease 231249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249 Hemoglobin E-beta-thalassemia syndrome Disease 715128 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715128 Hemoglobin E-beta-thalassemia major Clinical subtype 715125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715125 Hemoglobin E-beta-thalassemia intermedia Clinical subtype 330032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032 Hemoglobin Lepore-beta-thalassemia syndrome Disease 715135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715135 Hemoglobin Lepore-beta-thalassemia intermedia Clinical subtype 715140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715140 Hemoglobin Lepore-beta-thalassemia major Clinical subtype 231386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231386 Syndromic beta-thalassemia Category 231393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393 Beta-thalassemia-X-linked thrombocytopenia syndrome Disease 231237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237 Delta-beta-thalassemia Disease 231226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226 Unstable beta globin chain variant disease Disease 46532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Disease 700111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700111 Homozygous hemoglobin O Arab disease Disease 98363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98363 Rare hemolytic anemia Category 182043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182043 Rare constitutional hemolytic anemia Category 576742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576742 Genetic hemolytic uremic syndrome Category 2134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134 Atypical hemolytic uremic syndrome Disease 93581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies Etiological subtype 544472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472 Atypical hemolytic uremic syndrome with complement gene abnormality Etiological subtype 357008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008 Hemolytic uremic syndrome with DGKE deficiency Disease 79282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 Methylmalonic acidemia with homocystinuria, type cblC Clinical subtype 688581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome Malformation syndrome 1046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 Lethal hemolytic anemia-genital anomalies syndrome Malformation syndrome 79293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 Familial LCAT deficiency Clinical subtype 86818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome Disease 98364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly Category 822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822 Hereditary spherocytosis Disease 288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288 Hereditary elliptocytosis Disease 93610 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610 Distal renal tubular acidosis with anemia Clinical subtype 98365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98365 Hereditary stomatocytosis Clinical group 3203 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203 Overhydrated hereditary stomatocytosis Disease 3202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202 Dehydrated hereditary stomatocytosis Disease 71275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275 Rh deficiency syndrome Disease 90044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044 Familial pseudohyperkalemia Disease 98868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868 Southeast Asian ovalocytosis Disease 168577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 Hereditary cryohydrocytosis with reduced stomatin Disease 398088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088 Hereditary cryohydrocytosis with normal stomatin Disease 98366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98366 Constitutional hemolytic anemia due to acanthocytosis Category 14 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 Abetalipoproteinemia Disease 59306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 McLeod neuroacanthocytosis syndrome Disease 169464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 Primary CD59 deficiency Disease 98369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98369 Rare constitutional hemolytic anemia due to an enzyme disorder Category 659672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 Harderoporphyria Disease 79277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 Congenital erythropoietic porphyria Disease 98370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies Category 32 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 Glutathione synthetase deficiency Disease 289846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 Glutathione synthetase deficiency with 5-oxoprolinuria Clinical subtype 289849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 Glutathione synthetase deficiency without 5-oxoprolinuria Clinical subtype 33574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 Glutamate-cysteine ligase deficiency Disease 90030 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030 Hemolytic anemia due to glutathione reductase deficiency Disease 99135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99135 6-phosphogluconate dehydrogenase deficiency Disease 98372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98372 Hemolytic anemia due to a disorder of glycolytic enzymes Category 371 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 Glycogen storage disease due to muscle phosphofructokinase deficiency Disease 868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 Triose phosphate-isomerase deficiency Disease 57 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 Glycogen storage disease due to aldolase A deficiency Disease 713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Disease 766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 Hemolytic anemia due to red cell pyruvate kinase deficiency Disease 712 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 Hemolytic anemia due to glucophosphate isomerase deficiency Disease 714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 Hemolytic anemia due to diphosphoglycerate mutase deficiency Disease 90031 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency Disease 466026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026 Class I glucose-6-phosphate dehydrogenase deficiency Disease 98374 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder Category 35120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Disease 86817 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817 Hemolytic anemia due to adenylate kinase deficiency Disease 99138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Disease 79278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 Autosomal erythropoietic protoporphyria Disease 182047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182047 Rare acquired hemolytic anemia Category 447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 Paroxysmal nocturnal hemoglobinuria Disease 98375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98375 Autoimmune hemolytic anemia Clinical group 228312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228312 Autoimmune hemolytic anemia, cold type Clinical group 56425 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56425 Cold agglutinin disease Disease 90035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90035 Paroxysmal cold hemoglobinuria Disease 438159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 STAT3-related early-onset multisystem autoimmune disease Disease 1959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959 Evans syndrome Disease 90033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90033 Autoimmune hemolytic anemia, warm type Disease 90036 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90036 Mixed-type autoimmune hemolytic anemia Disease 90037 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90037 Drug-induced autoimmune hemolytic anemia Disease 275938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275938 Hemolytic disease due to fetomaternal alloimmunization Category 275944 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275944 Hemolytic disease of the newborn with Kell alloimmunization Disease 544482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482 Infection-related hemolytic uremic syndrome Disease 90038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038 Shiga toxin-associated hemolytic uremic syndrome Clinical subtype 544493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome Clinical subtype 182040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182040 Rare aplastic anemia Category 68383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383 Rare constitutional aplastic anemia Category 124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 Diamond-Blackfan anemia Disease 1775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 Dyskeratosis congenita Disease 84 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 Fanconi anemia Malformation syndrome 3088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088 Revesz syndrome Malformation syndrome 3322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 Hoyeraal-Hreidarsson syndrome Disease 3466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 WT limb-blood syndrome Disease 3319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 Congenital amegakaryocytic thrombocytopenia Disease 811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 Shwachman-Diamond syndrome Disease 314399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399 Autosomal dominant aplasia and myelodysplasia Disease 397692 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692 Hereditary isolated aplastic anemia Disease 401764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764 Pancytopenia-developmental delay syndrome Disease 611216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216 Aplastic anemia-intellectual disability-dwarfism syndrome Disease 164823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164823 Rare acquired aplastic anemia Category 447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 Paroxysmal nocturnal hemoglobinuria Disease 824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824 Primary myelofibrosis Disease 88 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88 Idiopathic aplastic anemia Disease 98421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98421 Primary acquired red cell aplasia Clinical group 98871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98871 Transient erythroblastopenia of childhood Disease 98872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98872 Primary acquired pure red cell aplasia Disease 248293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248293 Rare deficiency anemia Category 248296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248296 Constitutional deficiency anemia Category 98360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98360 Constitutional anemia due to iron metabolism disorder Category 1195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 Congenital atransferrinemia Disease 48818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 Aceruloplasminemia Disease 83642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 Microcytic anemia with liver iron overload Disease 209981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981 IRIDA syndrome Disease 300298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 Severe congenital hypochromic anemia with ringed sideroblasts Disease 98396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Category 26 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 Methylmalonic acidemia with homocystinuria Disease 79282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 Methylmalonic acidemia with homocystinuria, type cblC Clinical subtype 79283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 Methylmalonic acidemia with homocystinuria, type cblD Clinical subtype 79284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 Methylmalonic acidemia with homocystinuria type cblF Clinical subtype 369955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 Methylmalonic acidemia with homocystinuria, type cblJ Clinical subtype 369962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 Methylmalonic acidemia with homocystinuria, type cblX Clinical subtype 859 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 Transcobalamin deficiency Disease 332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 Congenital intrinsic factor deficiency Disease 622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 Homocystinuria without methylmalonic aciduria Disease 2169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 Methylcobalamin deficiency type cblE Clinical subtype 2170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 Methylcobalamin deficiency type cblG Clinical subtype 308380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 Methylcobalamin deficiency type cblDv1 Clinical subtype 35858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 Imerslund-Gräsbeck syndrome Disease 98408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98408 Constitutional megaloblastic anemia due to folate metabolism disorder Category 51208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 Formiminoglutamic aciduria Disease 90045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 Hereditary folate malabsorption Disease 319651 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 Constitutional megaloblastic anemia with severe neurologic disease Disease 658813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency Disease 661412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency Disease 98415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia Category 30 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 Hereditary orotic aciduria Disease 49827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 Thiamine-responsive megaloblastic anemia syndrome Disease 206428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency Clinical group 510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 Lesch-Nyhan syndrome Disease 79233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency Disease 248302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248302 Rare acquired deficiency anemia Category 54028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54028 Plummer-Vinson syndrome Disease 293830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293830 Constitutional dyserythropoietic anemia Category 85 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85 Congenital dyserythropoietic anemia Clinical group 67044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 Thrombocytopenia with congenital dyserythropoietic anemia Disease 98869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869 Congenital dyserythropoietic anemia type I Disease 98870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870 Congenital dyserythropoietic anemia type III Disease 98873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 Congenital dyserythropoietic anemia type II Disease 293825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825 Congenital dyserythropoietic anemia type IV Disease 363727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia Disease 77297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 Majeed syndrome Disease 199337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 Pancreatic insufficiency-anemia-hyperostosis syndrome Disease 440731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731 L-ferritin deficiency Biological anomaly 450322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450322 Polyclonal hyperviscosity syndrome Clinical syndrome 617294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617294 Twin anemia-polycythemia sequence Disease 570470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570470 Ricin poisoning Disease