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- Rare hematologic disease ORPHA:97992
- Tumor of hematopoietic and lymphoid tissues ORPHA:68347
- Bloom syndrome ORPHA:125
- Mastocytosis ORPHA:98292
- Systemic mastocytosis ORPHA:2467
- Indolent systemic mastocytosis ORPHA:98848
- Systemic mastocytosis with associated hematologic neoplasm ORPHA:98849
- Aggressive systemic mastocytosis ORPHA:98850
- Mast cell leukemia ORPHA:98851
- Smoldering systemic mastocytosis ORPHA:158775
- Isolated bone marrow mastocytosis ORPHA:158778
- Cutaneous mastocytosis ORPHA:66646
- Cutaneous mastocytoma ORPHA:79455
- Diffuse cutaneous mastocytosis ORPHA:79456
- Bullous diffuse cutaneous mastocytosis ORPHA:280785
- Pseudoxanthomatous diffuse cutaneous mastocytosis ORPHA:280794
- Maculopapular cutaneous mastocytosis ORPHA:79457
- Mast cell sarcoma ORPHA:66661
- Extracutaneous mastocytoma ORPHA:66662
- Myeloid hemopathy ORPHA:171895
- Acute myeloid leukemia ORPHA:519
- Acute myeloid leukaemia with myelodysplasia-related features ORPHA:86845
- Therapy related acute myeloid leukemia and myelodysplastic syndrome ORPHA:86846
- Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent ORPHA:102379
- Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor ORPHA:102381
- Acute myeloid leukemia and myelodysplastic syndromes related to radiation ORPHA:164726
- Acute leukemia of ambiguous lineage ORPHA:86851
- Mixed phenotype acute leukemia ORPHA:530995
- Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) ORPHA:589534
- Mixed phenotype acute leukemia with t(v;11q23.3) ORPHA:589595
- Acute undifferentiated leukemia ORPHA:98835
- Acute myeloid leukemia with recurrent genetic anomaly ORPHA:98277
- Acute promyelocytic leukemia ORPHA:520
- Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) ORPHA:98829
- Acute myeloid leukemia with 11q23 abnormalities ORPHA:98831
- Acute myeloid leukemia with t(8;21)(q22;q22) translocation ORPHA:102724
- Acute myeloid leukemia with CEBPA somatic mutations ORPHA:319480
- Acute myeloid leukemia with t(8;16)(p11;p13) translocation ORPHA:370026
- Acute myeloid leukemia with t(6;9)(p23;q34) ORPHA:402014
- Acute myeloid leukemia with t(9;11)(p22;q23) ORPHA:402017
- Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) ORPHA:402020
- Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) ORPHA:402023
- Acute myeloid leukemia with NPM1 somatic mutations ORPHA:402026
- Acute myeloid leukemia with t(9;22)(q34.1;q11.2) ORPHA:585867
- Unclassified acute myeloid leukemia ORPHA:167714
- Acute erythroid leukemia ORPHA:318
- Acute megakaryoblastic leukemia ORPHA:518
- Acute megakaryoblastic leukemia in children with Down syndrome ORPHA:99887
- Acute megakaryoblastic leukemia in children without Down syndrome ORPHA:329469
- Acute megakaryoblastic leukemia in adult ORPHA:662934
- Acute panmyelosis with myelofibrosis ORPHA:86843
- Acute basophilic leukemia ORPHA:86849
- Myeloid sarcoma ORPHA:86850
- Acute myeloid leukemia with minimal differentiation ORPHA:98832
- Acute myeloblastic leukemia without maturation ORPHA:98833
- Acute myeloblastic leukemia with maturation ORPHA:98834
- Acute myelomonocytic leukemia ORPHA:517
- Acute monoblastic/monocytic leukemia ORPHA:514
- Inherited acute myeloid leukemia ORPHA:319465
- Myelodysplastic syndrome ORPHA:52688
- Acquired idiopathic sideroblastic anemia ORPHA:75564
- Refractory cytopenia with multilineage dysplasia ORPHA:86836
- Myelodysplastic neoplasm with low blasts ORPHA:98826
- Unclassified myelodysplastic syndrome ORPHA:98827
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Myelodysplastic neoplasm with increased blasts ORPHA:86839
- Myelodysplastic neoplasm with increased blasts type 1 ORPHA:100019
- Myelodysplastic neoplasm with increased blasts type 2 ORPHA:100020
- Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality ORPHA:86841
- Refractory anemia with excess blasts in transformation ORPHA:168960
- Familial monosomy 7 syndrome ORPHA:495930
- Myeloproliferative neoplasm ORPHA:98274
- 14q32 duplication syndrome ORPHA:488280
- Essential thrombocythemia ORPHA:3318
- Chronic myeloid leukemia ORPHA:521
- Primary myelofibrosis ORPHA:824
- Polycythemia vera ORPHA:729
- Chronic neutrophilic leukemia ORPHA:86829
- Chronic myeloproliferative disease, unclassifiable ORPHA:86830
- Chronic eosinophilic leukemia ORPHA:168940
- Hypereosinophilic syndrome ORPHA:168956
- Idiopathic hypereosinophilic syndrome ORPHA:3260
- Primary hypereosinophilic syndrome ORPHA:314950
- Secondary hypereosinophilic syndrome ORPHA:314962
- Transient myeloproliferative syndrome ORPHA:420611
- Hereditary thrombocytopenia with early-onset myelofibrosis ORPHA:480851
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome ORPHA:675775
- Myelodysplastic/myeloproliferative disease ORPHA:98275
- Juvenile myelomonocytic leukemia ORPHA:86834
- Chronic myelomonocytic leukemia ORPHA:98823
- Atypical chronic myeloid leukemia ORPHA:98824
- Unclassified myelodysplastic/myeloproliferative disease ORPHA:98825
- Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 ORPHA:168943
- Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement ORPHA:168947
- Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement ORPHA:168950
- Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement ORPHA:168953
- Myeloid/lymphoid neoplasm associated with JAK2 rearrangement ORPHA:589542
- Lymphoid hemopathy ORPHA:171898
- Autoimmune lymphoproliferative syndrome ORPHA:3261
- Plasma cell tumor ORPHA:98282
- POEMS syndrome ORPHA:2905
- Multiple myeloma ORPHA:29073
- AL amyloidosis ORPHA:85443
- Plasmacytoma ORPHA:86855
- Non-amyloid monoclonal immunoglobulin deposition disease ORPHA:86861
- Heavy chain deposition disease ORPHA:93556
- Light and heavy chain deposition disease ORPHA:93557
- Light chain deposition disease ORPHA:93558
- Heavy chain disease ORPHA:86864
- Mu-heavy chain disease ORPHA:100024
- Alpha-heavy chain disease ORPHA:100025
- Gamma-heavy chain disease ORPHA:100026
- Plasma cell leukemia ORPHA:454714
- Histiocytic and dendritic cell tumor ORPHA:98287
- Macrophage or histiocytic tumor ORPHA:98288
- Dendritic cell tumor ORPHA:98289
- Langerhans cell histiocytosis ORPHA:389
- Pulmonary Langerhans cell histiocytosis ORPHA:687733
- Multisystem Langerhans cell histiocytosis ORPHA:687741
- Single-system multifocal Langerhans cell histiocytosis ORPHA:687738
- Unifocal Langerhans cell histiocytosis ORPHA:687730
- Langerhans cell sarcoma ORPHA:86897
- Interdigitating dendritic cell sarcoma ORPHA:86900
- Dendritic cell sarcoma not otherwise specified ORPHA:86903
- Indeterminate cell histiocytosis ORPHA:158019
- Immunodeficiency-associated lymphoproliferative disease ORPHA:98290
- Post-transplant lymphoproliferative disease ORPHA:70568
- Methotrexate-associated lymphoproliferative disorders ORPHA:86904
- Lymphoproliferative disease associated with primary immune disease ORPHA:98291
- TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome ORPHA:675628
- Lymphoma ORPHA:223735
- Non-Hodgkin lymphoma ORPHA:547
- Acute lymphoblastic leukemia ORPHA:513
- Precursor B-cell acute lymphoblastic leukemia ORPHA:99860
- B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality ORPHA:585877
- B-lymphoblastic leukemia/lymphoma with t(17;19) ORPHA:641375
- B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) ORPHA:585909
- B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) ORPHA:585918
- B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) ORPHA:585929
- B-lymphoblastic leukemia/lymphoma with hyperdiploidy ORPHA:585936
- B-lymphoblastic leukemia/lymphoma with hypodiploidy ORPHA:585942
- B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) ORPHA:585948
- B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) ORPHA:585956
- B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) ORPHA:641372
- Precursor T-cell acute lymphoblastic leukemia ORPHA:99861
- B-cell non-Hodgkin lymphoma ORPHA:171915
- Indolent B-cell non-Hodgkin lymphoma ORPHA:300842
- Follicular lymphoma ORPHA:545
- Waldenström macroglobulinemia ORPHA:33226
- Classic hairy cell leukemia ORPHA:58017
- B-cell chronic lymphocytic leukemia ORPHA:67038
- Indolent primary cutaneous B-cell lymphoma ORPHA:178557
- Primary cutaneous marginal zone B-cell lymphoma ORPHA:178536
- Primary cutaneous follicle center lymphoma ORPHA:178540
- Hairy cell leukemia variant ORPHA:300878
- Marginal zone lymphoma ORPHA:300912
- MALT lymphoma ORPHA:52417
- Splenic marginal zone lymphoma ORPHA:86854
- Nodal marginal zone B-cell lymphoma ORPHA:86867
- Splenic diffuse red pulp small B-cell lymphoma ORPHA:300869
- Lymphoplasmacytic lymphoma without IgM production ORPHA:443159
- Aggressive B-cell non-Hodgkin lymphoma ORPHA:300846
- Burkitt lymphoma ORPHA:543
- Diffuse large B-cell lymphoma ORPHA:544
- Lymphomatoid granulomatosis ORPHA:86869
- Primary mediastinal large B-cell lymphoma ORPHA:98838
- Intravascular large B-cell lymphoma ORPHA:98839
- Epstein-Barr virus-positive diffuse large B-cell lymphoma ORPHA:289661
- Diffuse large B-cell lymphoma of the central nervous system ORPHA:300849
- T-cell/histiocyte rich large B cell lymphoma ORPHA:300857
- Diffuse large B-cell lymphoma with chronic inflammation ORPHA:300888
- ALK-positive large B-cell lymphoma ORPHA:364043
- Primary effusion lymphoma ORPHA:48686
- Mantle cell lymphoma ORPHA:52416
- B-cell prolymphocytic leukemia ORPHA:86852
- Aggressive primary cutaneous B-cell lymphoma ORPHA:178554
- Plasmablastic lymphoma ORPHA:289666
- High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement ORPHA:480541
- T-cell non-Hodgkin lymphoma ORPHA:171918
- Post-transplant lymphoproliferative disease ORPHA:70568
- Blastic plasmacytoid dendritic cell neoplasm ORPHA:86870
- T-cell prolymphocytic leukemia ORPHA:86871
- Enteropathy-associated T-cell lymphoma ORPHA:86880
- Hepatosplenic T-cell lymphoma ORPHA:86882
- Angioimmunoblastic T-cell lymphoma ORPHA:86886
- Anaplastic large cell lymphoma ORPHA:98841
- ALK-positive anaplastic large cell lymphoma ORPHA:300895
- ALK-negative anaplastic large cell lymphoma ORPHA:300903
- Primary cutaneous T-cell lymphoma ORPHA:171901
- Indolent primary cutaneous T-cell lymphoma ORPHA:178548
- Primary cutaneous CD30+ T-cell lymphoproliferative disease ORPHA:541
- Subcutaneous panniculitis-like T-cell lymphoma ORPHA:86884
- Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ORPHA:178522
- Mycosis fungoides and variants ORPHA:178566
- Aggressive primary cutaneous T-cell lymphoma ORPHA:178551
- Sézary syndrome ORPHA:3162
- Adult T-cell leukemia/lymphoma ORPHA:86875
- Extranodal nasal NK/T cell lymphoma ORPHA:86879
- Primary cutaneous peripheral T-cell lymphoma not otherwise specified ORPHA:86885
- Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ORPHA:178528
- Primary cutaneous gamma/delta-positive T-cell lymphoma ORPHA:178533
- Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood ORPHA:364033
- Hydroa vacciniforme-like lymphoma ORPHA:364039
- Breast implant-associated anaplastic large cell lymphoma ORPHA:667662
- Monomorphic epitheliotropic intestinal T-cell lymphoma ORPHA:652658
- Large granular lymphocyte leukemia ORPHA:512034
- T-cell large granular lymphocyte leukemia ORPHA:86872
- Aggressive NK-cell leukemia ORPHA:86873
- Chronic lymphoproliferative disorder of natural killer cells ORPHA:512017
- Nodal T-follicular helper cell lymphoma, follicular type ORPHA:652650
- Hodgkin lymphoma ORPHA:98293
- Classic Hodgkin lymphoma ORPHA:391
- Classic Hodgkin lymphoma, nodular sclerosis type ORPHA:98843
- Classic Hodgkin lymphoma, mixed cellularity type ORPHA:98844
- Classic Hodgkin lymphoma, lymphocyte-rich type ORPHA:98845
- Classic Hodgkin lymphoma, lymphocyte-depleted type ORPHA:98846
- Nodular lymphocyte predominant Hodgkin lymphoma ORPHA:86893
- Composite lymphoma ORPHA:168966
- Primary organ-specific lymphoma ORPHA:279911
- Primary pulmonary lymphoma ORPHA:2420
- Primary cutaneous lymphoma ORPHA:542
- Primary cutaneous T-cell lymphoma ORPHA:171901
- Indolent primary cutaneous T-cell lymphoma ORPHA:178548
- Primary cutaneous CD30+ T-cell lymphoproliferative disease ORPHA:541
- Subcutaneous panniculitis-like T-cell lymphoma ORPHA:86884
- Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ORPHA:178522
- Mycosis fungoides and variants ORPHA:178566
- Aggressive primary cutaneous T-cell lymphoma ORPHA:178551
- Sézary syndrome ORPHA:3162
- Adult T-cell leukemia/lymphoma ORPHA:86875
- Extranodal nasal NK/T cell lymphoma ORPHA:86879
- Primary cutaneous peripheral T-cell lymphoma not otherwise specified ORPHA:86885
- Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ORPHA:178528
- Primary cutaneous gamma/delta-positive T-cell lymphoma ORPHA:178533
- Primary cutaneous B-cell lymphoma ORPHA:178563
- Primary central nervous system lymphoma ORPHA:46135
- Thyroid lymphoma ORPHA:97285
- Primary oculocerebral lymphoma ORPHA:279897
- Primary intraocular lymphoma ORPHA:279904
- Primary bone lymphoma ORPHA:314684
- Primary lymphoma of the conjunctiva ORPHA:319667
- RAS-associated autoimmune leukoproliferative disease ORPHA:268114
- Persistent polyclonal B-cell lymphocytosis ORPHA:300324
- Castleman disease ORPHA:160
- Monoclonal mast cell activation syndrome ORPHA:529468
- Hereditary persistence of fetal hemoglobin-intellectual disability syndrome ORPHA:619233
- Congenital analbuminemia ORPHA:86816
- Polycythemia ORPHA:98427
- Polycythemia vera ORPHA:729
- Primary familial polycythemia ORPHA:90042
- Secondary polycythemia ORPHA:98428
- Congenital secondary polycythemia ORPHA:238536
- Chuvash erythrocytosis ORPHA:238557
- Autosomal recessive secondary polycythemia not associated with VHL gene ORPHA:247378
- Autosomal dominant secondary polycythemia ORPHA:247511
- Acquired secondary polycythemia ORPHA:238547
- Multiple paragangliomas associated with polycythemia ORPHA:324299
- Rare coagulation disorder ORPHA:98429
- Rare thrombotic disease of hematologic origin ORPHA:182054
- Rare thrombotic disorder due to a coagulation factors defect ORPHA:248358
- Rare thrombotic disorder due to a constitutional coagulation factors defect ORPHA:248361
- Congenital factor XII deficiency ORPHA:330
- Familial thrombomodulin anomalies ORPHA:3324
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639
- Rare hereditary thrombophilia ORPHA:217454
- Severe hereditary thrombophilia due to congenital protein S deficiency ORPHA:743
- Severe hereditary thrombophilia due to congenital protein C deficiency ORPHA:745
- Hereditary thrombophilia due to congenital antithrombin deficiency ORPHA:82
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency ORPHA:217467
- Rare thrombotic disorder due to an acquired coagulation factors defect ORPHA:248365
- Rare thrombotic disorder due to a platelet anomaly ORPHA:248368
- Thrombotic thrombocytopenic purpura ORPHA:54057
- Congenital thrombotic thrombocytopenic purpura ORPHA:93583
- Immune-mediated thrombotic thrombocytopenic purpura ORPHA:93585
- Rare thrombotic disorder due to a constitutional platelet anomaly ORPHA:248401
- Rare thrombotic disorder due to an acquired platelet anomaly ORPHA:248404
- Rare hemorrhagic disorder ORPHA:248308
- Kasabach-Merritt phenomenon ORPHA:2330
- Rare hemorrhagic disorder due to a coagulation factors defect ORPHA:248315
- Rare hemorrhagic disorder due to a constitutional coagulation factors defect ORPHA:68334
- Combined deficiency of factor VII and factor X ORPHA:600691
- Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome ORPHA:3151
- Hemophilia ORPHA:448
- Hemophilia A ORPHA:98878
- Severe hemophilia A ORPHA:169802
- Moderate hemophilia A ORPHA:169805
- Mild hemophilia A ORPHA:169808
- Bleeding disorder in hemophilia A carriers ORPHA:177926
- Hemophilia B ORPHA:98879
- Congenital factor V deficiency ORPHA:326
- Congenital fibrinogen deficiency ORPHA:335
- Familial afibrinogenemia ORPHA:98880
- Familial dysfibrinogenemia ORPHA:98881
- Familial hypofibrinogenemia ORPHA:101041
- Familial hypodysfibrinogenemia ORPHA:248408
- Congenital alpha2-antiplasmin deficiency ORPHA:79
- Congenital factor XIII deficiency ORPHA:331
- Von Willebrand disease ORPHA:903
- Von Willebrand disease type 1 ORPHA:166078
- Von Willebrand disease type 2 ORPHA:166081
- Von Willebrand disease type 2A ORPHA:166084
- Von Willebrand disease type 2B ORPHA:166087
- Von Willebrand disease type 2M ORPHA:166090
- Von Willebrand disease type 2N ORPHA:166093
- Von Willebrand disease type 3 ORPHA:166096
- Congenital factor XI deficiency ORPHA:329
- Congenital plasminogen activator inhibitor type 1 deficiency ORPHA:465
- Congenital high-molecular-weight kininogen deficiency ORPHA:483
- Congenital prekallikrein deficiency ORPHA:749
- Combined deficiency of factor V and factor VIII ORPHA:35909
- Congenital vitamin K-dependent coagulation factors deficiency ORPHA:169826
- Congenital factor VII deficiency ORPHA:327
- Congenital factor II deficiency ORPHA:325
- Congenital factor X deficiency ORPHA:328
- Hereditary combined deficiency of vitamin K-dependent clotting factors ORPHA:98434
- Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation ORPHA:178396
- Factor V short isoforms-related bleeding disorder ORPHA:599519
- East Texas bleeding disorder ORPHA:391320
- Factor V Amsterdam bleeding disorder ORPHA:599579
- Factor V Atlanta bleeding disorder ORPHA:600194
- Thrombomodulin-related bleeding disorder ORPHA:436169
- Rare hemorrhagic disorder due to an acquired coagulation factor defect ORPHA:166775
- Acquired prothrombin deficiency ORPHA:26348
- Acquired von Willebrand syndrome ORPHA:99147
- Acquired factor XI deficiency ORPHA:599507
- Acquired factor VII deficiency ORPHA:599495
- Acquired factor X deficiency ORPHA:599501
- Acquired hemophilia A ORPHA:599480
- Acquired factor V deficiency ORPHA:599490
- Acquired hemophilia B ORPHA:599485
- Acquired factor XIII deficiency ORPHA:599513
- Rare hemorrhagic disorder due to a platelet anomaly ORPHA:248326
- Rare hemorrhagic disorder due to a constitutional platelet anomaly ORPHA:71202
- Rare hemorrhagic disorder due to a constitutional thrombocytopenia ORPHA:275729
- Syndromic constitutional thrombocytopenia ORPHA:477794
- Actinomyopathy-associated syndromic thrombocytopenia ORPHA:674653
- Periodic fever-immunodeficiency-thrombocytopenia syndrome ORPHA:652522
- Hereditary thrombocytopenia with early-onset myelofibrosis ORPHA:480851
- Stormorken-Sjaastad-Langslet syndrome ORPHA:3204
- Thrombocytopenia-absent radius syndrome ORPHA:3320
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ORPHA:71289
- MYH9-related syndromic thrombocytopenia ORPHA:182050
- GNE myopathy ORPHA:602
- Jacobsen syndrome ORPHA:2308
- Macrothrombocytopenia with mitral valve insufficiency ORPHA:220448
- Alpha delta granule deficiency ORPHA:734
- Dense granule disease ORPHA:98456
- Wiskott-Aldrich syndrome ORPHA:906
- Chédiak-Higashi syndrome ORPHA:167
- Familial platelet disorder with associated myeloid malignancy ORPHA:71290
- Hermansky-Pudlak syndrome ORPHA:79430
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Hermansky-Pudlak syndrome due to AP3B1 deficiency ORPHA:664500
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency ORPHA:231500
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency ORPHA:231512
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency ORPHA:231531
- Takenouchi-Kosaki syndrome ORPHA:487796
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome ORPHA:494444
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- Isolated constitutional thrombocytopenia ORPHA:477797
- Isolated hereditary giant platelet disorder ORPHA:220452
- Severe autosomal recessive macrothrombocytopenia ORPHA:438207
- Bernard-Soulier syndrome ORPHA:274
- Thrombocytopenia with congenital dyserythropoietic anemia ORPHA:67044
- Autosomal dominant macrothrombocytopenia ORPHA:140957
- Alpha granule disease ORPHA:98455
- Gray platelet syndrome ORPHA:721
- Quebec platelet disorder ORPHA:220436
- Medich giant platelet syndrome ORPHA:370127
- White platelet syndrome ORPHA:370131
- Paris-Trousseau thrombocytopenia ORPHA:851
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia ORPHA:363727
- Hereditary thrombocytopenia with normal platelets ORPHA:268322
- X-linked thrombocytopenia with normal platelets ORPHA:852
- Autosomal thrombocytopenia with normal platelets ORPHA:168629
- Familial platelet disorder with associated myeloid malignancy ORPHA:71290
- Congenital amegakaryocytic thrombocytopenia ORPHA:3319
- Bleeding diathesis due to thromboxane synthesis deficiency ORPHA:220443
- Isolated delta-storage pool disease ORPHA:248340
- Autosomal dominant thrombocytopenia with platelet secretion defect ORPHA:466806
- Congenital autosomal recessive small-platelet thrombocytopenia ORPHA:566192
- Rare hemorrhagic disorder due to a qualitative platelet defect ORPHA:275736
- Glanzmann thrombasthenia ORPHA:849
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder ORPHA:477787
- Scott syndrome ORPHA:806
- Bleeding disorder due to P2Y12 defect ORPHA:36355
- Pseudo-von Willebrand disease ORPHA:52530
- Bleeding diathesis due to a collagen receptor defect ORPHA:73271
- Bleeding diathesis due to glycoprotein VI deficiency ORPHA:98885
- Bleeding diathesis due to integrin alpha2-beta1 deficiency ORPHA:98886
- Bleeding disorder due to CalDAG-GEFI deficiency ORPHA:420566
- Rare hemorrhagic disorder due to an acquired platelet anomaly ORPHA:248347
- Rare anemia ORPHA:108997
- Sideroblastic anemia ORPHA:1047
- Acquired idiopathic sideroblastic anemia ORPHA:75564
- Constitutional sideroblastic anemia ORPHA:98362
- Pearson syndrome ORPHA:699
- Mitochondrial myopathy and sideroblastic anemia ORPHA:2598
- X-linked sideroblastic anemia and spinocerebellar ataxia ORPHA:2802
- Thiamine-responsive megaloblastic anemia syndrome ORPHA:49827
- X-linked sideroblastic anemia ORPHA:75563
- Adult-onset autosomal recessive sideroblastic anemia ORPHA:255132
- Autosomal recessive sideroblastic anemia ORPHA:260305
- Severe congenital hypochromic anemia with ringed sideroblasts ORPHA:300298
- Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ORPHA:369861
- Hemoglobinopathy ORPHA:68364
- Hemoglobin E disease ORPHA:2133
- Hemoglobin D disease ORPHA:90039
- Unstable hemoglobin disease ORPHA:99139
- Alpha-thalassemia and related disorders ORPHA:275745
- Beta-thalassemia and related diseases ORPHA:275749
- Beta-thalassemia ORPHA:848
- Beta-thalassemia major ORPHA:231214
- Beta-thalassemia intermedia ORPHA:231222
- Dominant beta-thalassemia ORPHA:231226
- Beta-thalassemia associated with another hemoglobin anomaly ORPHA:231230
- Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome ORPHA:46532
- Delta-beta-thalassemia ORPHA:231237
- Hemoglobin C-beta-thalassemia syndrome ORPHA:231242
- Hemoglobin E-beta-thalassemia syndrome ORPHA:231249
- Hemoglobin Lepore-beta-thalassemia syndrome ORPHA:330032
- Beta-thalassemia with other manifestations ORPHA:231386
- Sickle cell disease and related diseases ORPHA:275752
- Sickle cell anemia ORPHA:232
- Sickle cell disease associated with another hemoglobin anomaly ORPHA:251355
- Hemoglobinopathy Toms River ORPHA:280615
- Hereditary methemoglobinemia ORPHA:621
- Hemoglobin C disease ORPHA:2132
- Hemoglobin M disease ORPHA:330041
- Acquired methemoglobinemia ORPHA:464453
- Rare hemolytic anemia ORPHA:98363
- Rare constitutional hemolytic anemia ORPHA:182043
- Genetic hemolytic uremic syndrome ORPHA:576742
- Atypical hemolytic uremic syndrome ORPHA:2134
- Atypical hemolytic uremic syndrome with anti-factor H antibodies ORPHA:93581
- Atypical hemolytic uremic syndrome with complement gene abnormality ORPHA:544472
- Hemolytic uremic syndrome with DGKE deficiency ORPHA:357008
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome ORPHA:688581
- Lethal hemolytic anemia-genital anomalies syndrome ORPHA:1046
- Familial LCAT deficiency ORPHA:79293
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ORPHA:86818
- Rare constitutional hemolytic anemia due to a red cell membrane anomaly ORPHA:98364
- Hereditary spherocytosis ORPHA:822
- Hereditary elliptocytosis ORPHA:288
- Distal renal tubular acidosis with anemia ORPHA:93610
- Hereditary stomatocytosis ORPHA:98365
- Overhydrated hereditary stomatocytosis ORPHA:3203
- Dehydrated hereditary stomatocytosis ORPHA:3202
- Rh deficiency syndrome ORPHA:71275
- Familial pseudohyperkalemia ORPHA:90044
- Southeast Asian ovalocytosis ORPHA:98868
- Hereditary cryohydrocytosis with reduced stomatin ORPHA:168577
- Hereditary cryohydrocytosis with normal stomatin ORPHA:398088
- Constitutional hemolytic anemia due to acanthocytosis ORPHA:98366
- Primary CD59 deficiency ORPHA:169464
- Rare constitutional hemolytic anemia due to an enzyme disorder ORPHA:98369
- Harderoporphyria ORPHA:659672
- Congenital erythropoietic porphyria ORPHA:79277
- Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies ORPHA:98370
- Glutathione synthetase deficiency ORPHA:32
- Glutathione synthetase deficiency with 5-oxoprolinuria ORPHA:289846
- Glutathione synthetase deficiency without 5-oxoprolinuria ORPHA:289849
- Glutamate-cysteine ligase deficiency ORPHA:33574
- Hemolytic anemia due to glutathione reductase deficiency ORPHA:90030
- 6-phosphogluconate dehydrogenase deficiency ORPHA:99135
- Hemolytic anemia due to a disorder of glycolytic enzymes ORPHA:98372
- Glycogen storage disease due to muscle phosphofructokinase deficiency ORPHA:371
- Triose phosphate-isomerase deficiency ORPHA:868
- Glycogen storage disease due to aldolase A deficiency ORPHA:57
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency ORPHA:713
- Hemolytic anemia due to red cell pyruvate kinase deficiency ORPHA:766
- Hemolytic anemia due to glucophosphate isomerase deficiency ORPHA:712
- Hemolytic anemia due to diphosphoglycerate mutase deficiency ORPHA:714
- Non-spherocytic hemolytic anemia due to hexokinase deficiency ORPHA:90031
- Class I glucose-6-phosphate dehydrogenase deficiency ORPHA:466026
- Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder ORPHA:98374
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency ORPHA:35120
- Hemolytic anemia due to adenylate kinase deficiency ORPHA:86817
- Hemolytic anemia due to erythrocyte adenosine deaminase overproduction ORPHA:99138
- Autosomal erythropoietic protoporphyria ORPHA:79278
- Rare acquired hemolytic anemia ORPHA:182047
- Paroxysmal nocturnal hemoglobinuria ORPHA:447
- Autoimmune hemolytic anemia ORPHA:98375
- Autoimmune hemolytic anemia, cold type ORPHA:228312
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Evans syndrome ORPHA:1959
- Autoimmune hemolytic anemia, warm type ORPHA:90033
- Mixed-type autoimmune hemolytic anemia ORPHA:90036
- Drug-induced autoimmune hemolytic anemia ORPHA:90037
- Hemolytic disease due to fetomaternal alloimmunization ORPHA:275938
- Infection-related hemolytic uremic syndrome ORPHA:544482
- Rare aplastic anemia ORPHA:182040
- Rare constitutional aplastic anemia ORPHA:68383
- Diamond-Blackfan anemia ORPHA:124
- Dyskeratosis congenita ORPHA:1775
- Fanconi anemia ORPHA:84
- Revesz syndrome ORPHA:3088
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- WT limb-blood syndrome ORPHA:3466
- Congenital amegakaryocytic thrombocytopenia ORPHA:3319
- Shwachman-Diamond syndrome ORPHA:811
- Autosomal dominant aplasia and myelodysplasia ORPHA:314399
- Hereditary isolated aplastic anemia ORPHA:397692
- Pancytopenia-developmental delay syndrome ORPHA:401764
- Aplastic anemia-intellectual disability-dwarfism syndrome ORPHA:611216
- Rare acquired aplastic anemia ORPHA:164823
- Rare deficiency anemia ORPHA:248293
- Constitutional deficiency anemia ORPHA:248296
- Constitutional anemia due to iron metabolism disorder ORPHA:98360
- Congenital atransferrinemia ORPHA:1195
- Aceruloplasminemia ORPHA:48818
- Microcytic anemia with liver iron overload ORPHA:83642
- IRIDA syndrome ORPHA:209981
- Severe congenital hypochromic anemia with ringed sideroblasts ORPHA:300298
- Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder ORPHA:98396
- Methylmalonic acidemia with homocystinuria ORPHA:26
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Methylmalonic acidemia with homocystinuria, type cblD ORPHA:79283
- Methylmalonic acidemia with homocystinuria type cblF ORPHA:79284
- Methylmalonic acidemia with homocystinuria, type cblJ ORPHA:369955
- Methylmalonic acidemia with homocystinuria, type cblX ORPHA:369962
- Transcobalamin deficiency ORPHA:859
- Congenital intrinsic factor deficiency ORPHA:332
- Homocystinuria without methylmalonic aciduria ORPHA:622
- Methylcobalamin deficiency type cblE ORPHA:2169
- Methylcobalamin deficiency type cblG ORPHA:2170
- Methylcobalamin deficiency type cblDv1 ORPHA:308380
- Imerslund-Gräsbeck syndrome ORPHA:35858
- Constitutional megaloblastic anemia due to folate metabolism disorder ORPHA:98408
- Formiminoglutamic aciduria ORPHA:51208
- Hereditary folate malabsorption ORPHA:90045
- Constitutional megaloblastic anemia with severe neurologic disease ORPHA:319651
- Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency ORPHA:658813
- Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency ORPHA:661412
- Vitamin B12- and folate-independent constitutional megaloblastic anemia ORPHA:98415
- Rare acquired deficiency anemia ORPHA:248302
- Constitutional dyserythropoietic anemia ORPHA:293830
- Congenital dyserythropoietic anemia ORPHA:85
- Thrombocytopenia with congenital dyserythropoietic anemia ORPHA:67044
- Congenital dyserythropoietic anemia type I ORPHA:98869
- Congenital dyserythropoietic anemia type III ORPHA:98870
- Congenital dyserythropoietic anemia type II ORPHA:98873
- Congenital dyserythropoietic anemia type IV ORPHA:293825
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia ORPHA:363727
- Majeed syndrome ORPHA:77297
- Pancreatic insufficiency-anemia-hyperostosis syndrome ORPHA:199337
- L-ferritin deficiency ORPHA:440731
- Polyclonal hyperviscosity syndrome ORPHA:450322
- Twin anemia-polycythemia sequence ORPHA:617294
- Ricin poisoning ORPHA:570470