| Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... |
OMIM:209050 |
| Glanzmann Thrombasthenia 2 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... |
OMIM:619267 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... |
OMIM:619130 |
| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infec... |
OMIM:614470 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts |
OMIM:618462 |
| Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... |
OMIM:173590 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:615888 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... |
OMIM:619271 |
| Glanzmann Thrombasthenia 1 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... |
OMIM:273800 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
| Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... |
OMIM:609821 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... |
OMIM:614493 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
| Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Infectious encephalitis, Neutropenia, Pancytopenia, Lymphadenopathy, Reduced natura... |
OMIM:308240 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets |
OMIM:608404 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circ... |
OMIM:615285 |
| +173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist... |
OMIM:173470 |
| Immunodeficiency 20 |
|
BCGitis, Severe varicella zoster infection, Recurrent oral herpes, Recurrent viral upper respirat... |
OMIM:615707 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
| Bernard-Soulier Syndrome |
|
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... |
OMIM:231200 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... |
OMIM:615559 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... |
OMIM:614009 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... |
OMIM:300400 |
| Immunodeficiency 24 |
|
Severe varicella zoster infection, Decreased specific pneumococcal antibody level, Defective T ce... |
OMIM:615897 |
| Von Willebrand Disease, Type 3 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocyto... |
OMIM:277480 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, Platelet ... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility |
OMIM:614201 |
| Glanzmann Thrombasthenia |
|
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin... |
ORPHA:849 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... |
OMIM:600208 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
| Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... |
OMIM:300853 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Ecchymosis, Epistaxis, Prolonged bleeding time, Bruising susceptibility |
OMIM:614158 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... |
OMIM:617514 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... |
OMIM:605735 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Recurrent infections, Splenomegaly, Lymphocytosis, Decreased circulating total IgM |
OMIM:606445 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... |
OMIM:618495 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
| Factor V Deficiency |
|
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... |
OMIM:227400 |
| Gray Platelet Syndrome |
|
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... |
OMIM:139090 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections, Neutropenia |
OMIM:615214 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Quebec Platelet Disorder |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... |
OMIM:601709 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
| Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... |
OMIM:300988 |
| Sebastian syndrome |
|
Thrombocytopenia, Epistaxis, Prolonged bleeding time, Giant platelets |
OMIM:605249 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Menorrhagia, Epistaxis, Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytop... |
OMIM:155100 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... |
OMIM:618534 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt... |
OMIM:618986 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Epistaxis, Prolonged bleeding time, Abnormal alpha granule conten... |
OMIM:601399 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
| Von Willebrand Disease, Type 1 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... |
OMIM:193400 |
| Immunodeficiency 46 |
|
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... |
OMIM:616740 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Immunodeficiency 48 |
|
Hepatomegaly, Panhypogammaglobulinemia, Recurrent candida infections, Splenomegaly |
OMIM:269840 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation |
OMIM:617443 |
| Reticular Dysgenesis |
|
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... |
OMIM:267500 |
| Prothrombin Deficiency, Congenital |
|
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... |
OMIM:613679 |
| Caspase 8 Deficiency |
|
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... |
OMIM:607271 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity, Anemia, Splenomegaly, Meningitis, Reduced natural killer ce... |
OMIM:616050 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... |
ORPHA:331206 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Neutropenia, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarged to... |
OMIM:308230 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Chronic infection, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic er... |
ORPHA:75564 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw... |
OMIM:607594 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectiou... |
ORPHA:540 |
| Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Epistaxis, Impaired platelet aggregation, Bruising susceptibility |
OMIM:614076 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, BCGosis, Monocytosis, Lymphadenopathy, Recurrent lower respiratory tract infections... |
OMIM:619644 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Increas... |
ORPHA:100024 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... |
OMIM:616576 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Recurrent infections |
OMIM:618048 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... |
OMIM:613011 |
| Lymphoproliferative Syndrome 2 |
|
Sepsis, Hepatomegaly, Severe varicella zoster infection, Pancytopenia, Ascites, Lymphadenopathy, ... |
OMIM:615122 |
| Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre... |
OMIM:618261 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... |
OMIM:613502 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged bleeding tim... |
ORPHA:238459 |
| Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding |
OMIM:185050 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
| Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... |
OMIM:614075 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Hemophilia B |
|
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... |
ORPHA:98879 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... |
OMIM:231095 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Bruising susceptibility |
OMIM:314050 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... |
OMIM:187900 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Ly... |
ORPHA:444463 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... |
ORPHA:169154 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
| Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Lymp... |
OMIM:618982 |
| Fechtner syndrome |
|
Menorrhagia, Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Bruis... |
OMIM:153640 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Hepatomegaly, Recurrent bronchitis, Decreased circulating IgA lev... |
OMIM:240500 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Recurrent opportunistic infections, Failure to thrive secondary to recurrent infect... |
OMIM:608971 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypop... |
OMIM:612541 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Candidiasis, Familial, 2 |
|
Lymphadenopathy, Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Meningitis, In... |
OMIM:212050 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Recurrent opportunistic infections, Lack of T cell function, R... |
ORPHA:277 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Hepatomegaly, Neutropenia, Chronic oral candidiasis, Recurrent ot... |
OMIM:608233 |
| Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Hermansky-Pudlak Syndrome 5 |
|
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... |
OMIM:614074 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... |
OMIM:608184 |
| Bernard-Soulier Syndrome |
|
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Hematemesis, ... |
ORPHA:274 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... |
ORPHA:79124 |
| Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:617441 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... |
OMIM:605258 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Chronic oral candidiasis... |
OMIM:150550 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Infectious encephalitis, Leukopenia, Lymphadenopathy, Reduced natural killer cell a... |
OMIM:603553 |
| Myh9-Related Disease |
|
Menorrhagia, Increased mean platelet volume, Spontaneous, recurrent epistaxis, Prolonged bleeding... |
ORPHA:182050 |
| Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia, Osteolysis |
ORPHA:158014 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Sepsis, Hepatomegaly, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG... |
OMIM:616100 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... |
OMIM:619437 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin |
ORPHA:3319 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, BCGosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence of anti-ne... |
ORPHA:572 |
| Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
| Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Recurrent funga... |
OMIM:603554 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Hepatitis, Splenomegaly... |
OMIM:300635 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
| Felty Syndrome |
|
Sepsis, Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Recurrent inf... |
ORPHA:47612 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM leve... |
ORPHA:37748 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ... |
OMIM:209950 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Recurrent infections, Monocytosis |
OMIM:610680 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
| Reticular Dysgenesis |
|
Sepsis, Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymu... |
ORPHA:33355 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... |
OMIM:193670 |
| Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Epistaxis, Impaired collagen-ind... |
OMIM:619172 |
| Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Meningitis, In... |
ORPHA:3392 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... |
OMIM:613179 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
| Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
OMIM:616435 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
| Hermansky-Pudlak Syndrome 8 |
|
Menorrhagia, Gingival bleeding, Epistaxis, Abnormal bleeding, Impaired platelet aggregation, Brui... |
OMIM:614077 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Splenomegaly, Lymphopenia |
OMIM:605309 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnorm... |
OMIM:612840 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Recurrent oti... |
OMIM:601495 |
| Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Myelofibrosis, Splenomegaly, Acute my... |
ORPHA:86843 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Sepsis, B lymphocytopenia, Decreased proportion of class-switched memory B c... |
OMIM:614700 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Recurrent infections, Decreased circulat... |
OMIM:617780 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bro... |
OMIM:619164 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Thrombocytopenia, Acute leukemia, Lymphadenopathy, Bone marrow hypoce... |
ORPHA:3226 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... |
OMIM:209920 |
| Congenital Factor Ii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... |
ORPHA:325 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Recurrent infections, Bone marrow hypocellularity, Reticulocytopenia, Pancyt... |
ORPHA:88 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, ... |
OMIM:304790 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... |
ORPHA:169160 |
| Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly |
OMIM:615846 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Chronic active Epstein-Barr virus infection, Hepatomegaly, Neutropenia, Abnormal cytokine signali... |
ORPHA:158048 |
| Congenital Atransferrinemia |
|
Anemia, Recurrent infections, Abnormality of the pancreas |
ORPHA:1195 |
| Isolated Agammaglobulinemia |
|
Sepsis, Recurrent cutaneous abscess formation, Abnormality of the lymphatic system, Abnormal lymp... |
ORPHA:229717 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 15A |
|
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... |
OMIM:618204 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... |
OMIM:616005 |
| Good Syndrome |
|
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Recurrent urinary trac... |
ORPHA:169105 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... |
OMIM:600802 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Lymphadenopathy, Decreased circu... |
OMIM:608106 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, ... |
ORPHA:100026 |
| Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Osteoporosis, An... |
ORPHA:98850 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... |
ORPHA:158061 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Acute Erythroid Leukemia |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia |
ORPHA:318 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... |
ORPHA:158057 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circulating IgG le... |
OMIM:618394 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Babesiosis |
|
Hepatomegaly, Leukopenia, Recurrent infections, Splenomegaly, Recurrent pharyngitis, Thrombocytop... |
ORPHA:108 |
| Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level,... |
OMIM:102700 |
| Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... |
ORPHA:101096 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Recurrent urinary tract... |
ORPHA:90045 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Recurrent respiratory infections, Sea-blue hi... |
OMIM:607616 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Thrombocytopenia, Hepatomegaly |
ORPHA:1980 |
| X-Linked Agammaglobulinemia |
|
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Abnormality of th... |
ORPHA:47 |
| Essential Thrombocythemia |
|
Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time |
ORPHA:3318 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Chronic infection, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Er... |
ORPHA:86841 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... |
OMIM:611490 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Immunodeficiency 17 |
|
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurrent respiratory infec... |
OMIM:615607 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Peria... |
OMIM:618935 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Recurrent infect... |
OMIM:214500 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Lymphadenopathy, Anemia, Recurrent infections, Splenomegaly, Increased circulating ... |
OMIM:617591 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... |
ORPHA:98848 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis |
OMIM:613606 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Thymic Aplasia |
|
Sepsis, Lymphadenopathy, Recurrent infections, Recurrent candida infections, Oligoclonal T cell e... |
ORPHA:83471 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Granulo... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Granulo... |
OMIM:233710 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
| Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Decreased circulating antibody level, Bone ma... |
ORPHA:381 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent fungal infection... |
ORPHA:169090 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Lymphadenopathy, Recurrent infections, Thrombocytopenia, Autoimmu... |
OMIM:612783 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:327 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Prolidase Deficiency |
|
Hepatomegaly, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody level, R... |
OMIM:170100 |
| Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Reduced bone ... |
ORPHA:848 |
| Sitosterolemia 1 |
|
Abnormal bleeding, Giant platelets, Impaired platelet aggregation |
OMIM:210250 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Granulo... |
OMIM:306400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Granulo... |
OMIM:233690 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Wolfram Syndrome 2 |
|
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... |
OMIM:604928 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Os... |
ORPHA:77259 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphadenopathy, Recurrent infections, Lymphocytosis, Thrombocyto... |
OMIM:617718 |
| Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Recurrent infections, Thrombocytopenia, Folate-responsive megaloblastic ... |
OMIM:229050 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Cyclic Neutropenia |
|
Sepsis, Peritonitis, Lymphadenopathy, Opportunistic infection, Perianal abscess, Cyclic neutropen... |
ORPHA:2686 |
| Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... |
OMIM:301000 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Recurrent staphylococcal infections, Recu... |
OMIM:607676 |
| Factor X Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
OMIM:227600 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Recurrent infections, Nodular regenerative hyper... |
OMIM:619463 |
| Lichtenstein Syndrome |
|
Neutropenia, Decreased circulating IgA level, Osteoporosis, Recurrent infections, Recurrent respi... |
OMIM:246550 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia, Ascites |
ORPHA:295 |
| Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
| Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... |
ORPHA:331235 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
| Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... |
ORPHA:83313 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Decreased circulating total IgM, Neutropenia, Decreased circula... |
ORPHA:2643 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Recurrent infections, Ane... |
OMIM:242900 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis |
OMIM:266265 |
| Amed Syndrome, Digenic |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:619151 |
| Congenital Factor X Deficiency |
|
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:328 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, B lymphocytopenia, Severe varicella zoster infection, Decreased c... |
OMIM:606367 |
| Castleman Disease |
|
Increased circulating interleukin 6, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphad... |
ORPHA:160 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... |
OMIM:242700 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice |
ORPHA:858 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Chronic infection, Abnormal mean corpuscular volume, Bone marrow hypocellularity, A... |
ORPHA:86839 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Cirrhosis |
OMIM:613987 |
| Immunodeficiency 47 |
|
Recurrent bacterial infections, Hepatomegaly, Normocytic anemia, Decreased circulating total IgA,... |
OMIM:300972 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... |
ORPHA:231154 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
| Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Recurrent infections, Nodular regenerative... |
ORPHA:64743 |
| Immunodeficiency 55 |
|
Lymphadenopathy, Recurrent infections, Neutropenia |
OMIM:617827 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Lymphadenopathy, Recurrent... |
OMIM:610377 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage |
ORPHA:90308 |
| X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
| Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Epistaxis, Prolonged bleeding time, Bruising susceptibility, Hematochezia |
OMIM:203300 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
ORPHA:35909 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Neutropenia, Decreased circulating IgG level, Decreased circula... |
OMIM:251190 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Sandhoff Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:796 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Abnor... |
ORPHA:210136 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
| Isovaleric Acidemia |
|
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia |
OMIM:243500 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Myelofibrosis |
|
Myeloproliferative disorder, Myelofibrosis, Splenomegaly |
OMIM:254450 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Recurrent infections, Splenomegaly |
OMIM:226990 |
| Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Chronic oral candidiasis, Lymphad... |
OMIM:260920 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Sepsis, Hepatomegaly, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Anemia, Bon... |
OMIM:617303 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Impaired T cell function, Recurrent infections, Decreased specific anti-polysacchar... |
OMIM:614576 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Hepatomegaly, Recurrent candida infections, Splenomegaly |
OMIM:201100 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Osteoporosis, Hepatomegaly |
OMIM:614727 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... |
OMIM:259710 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Thrombocytopenia, Osteoporosis |
OMIM:616937 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
| Transaldolase Deficiency |
|
Cirrhosis, Thrombocytopenia, Hepatosplenomegaly, Anemia |
ORPHA:101028 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
| Common Variable Immunodeficiency |
|
Recurrent bronchitis, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Abnorm... |
ORPHA:1572 |
| Adult-Onset Still Disease |
|
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Meningitis, Neu... |
ORPHA:829 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Splenomegaly, Reduced natural killer c... |
OMIM:609981 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia |
OMIM:273680 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... |
ORPHA:54251 |
| Ebola Hemorrhagic Fever |
|
Sepsis, Leukopenia, Hepatitis, Increased circulating antibody level, Lymphopenia, Acute pancreati... |
ORPHA:319218 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Meningitis, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
| Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
| Primary Intestinal Lymphangiectasia |
|
Ascites, Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circula... |
ORPHA:90362 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Mediastinal lymphadenopathy, Anemia, Bone marrow hypocellularity, Osteopenia, Myeloid leukemia, C... |
OMIM:614742 |
| Intermediate Osteopetrosis |
|
Chronic infection, Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosi... |
ORPHA:210110 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Reduced bone mineral density, Cholestasi... |
ORPHA:172 |
| Pelger-Huet Anomaly |
|
Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Giant platelets, Thro... |
OMIM:169400 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Increased bone mineral ... |
ORPHA:77261 |
| Autoerythrocyte Sensitization Syndrome |
|
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Joi... |
ORPHA:324636 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis |
OMIM:604173 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Splenomegaly, Mening... |
ORPHA:545 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Panc... |
ORPHA:398124 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Pgm3-Cdg |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... |
ORPHA:443811 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Recurr... |
OMIM:615934 |
| Rhabdoid Tumor |
|
Lymphadenopathy, Thrombocytopenia, Anemia, Neoplasm of the liver |
ORPHA:69077 |
| Congenital Enterovirus Infection |
|
Fetal ascites, Sepsis, Leukocytosis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis,... |
ORPHA:292 |
| Shwachman-Diamond Syndrome |
|
Sepsis, Neutropenia, Pancreatic hypoplasia, Leukemia, Pancytopenia, Bone marrow hypocellularity, ... |
ORPHA:811 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Prolonged prothrombin time, Epistaxis, Abnormal bleeding |
OMIM:610842 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia, Hepatomegaly, Ascites |
ORPHA:2123 |
| Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Lymphadenopathy, Recurrent infections, Splenomegaly, Hep... |
ORPHA:167 |
| Hereditary Orotic Aciduria |
|
Impaired T cell function, Recurrent respiratory infections, Anemia, Splenomegaly |
ORPHA:30 |
| Preeclampsia |
|
Thrombocytopenia, Abnormality of the hepatic vasculature, Helicobacter pylori infection |
ORPHA:275555 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Osteopetrosis, Anemia, Decreased osteoclast count, Splenomegaly, Extramedu... |
OMIM:259720 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Sézary Syndrome |
|
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... |
ORPHA:3162 |
| Pfapa Syndrome |
|
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Recurrent pharyngitis |
ORPHA:42642 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Osteopetrosis, An... |
OMIM:612301 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia, Hepatic hemangioma |
ORPHA:141179 |
| Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Abnormality of thrombocytes, Lymphadenopathy, Anemia, Abnormal granul... |
ORPHA:1451 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Chronic infection, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Pancytopenia, ... |
ORPHA:520 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Thin bony cortex, Lymphangioma, Splenomegaly, Calvarial hyperostosis, Fa... |
OMIM:176920 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Recurrent infections, Osteopenia, Left ventricular hypertrophy, Thrombocytopenia |
OMIM:611209 |
| Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Cirrhosis, Recurrent upper respiratory tract i... |
ORPHA:263501 |
| Icf Syndrome |
|
Decreased circulating antibody level, Anemia, Lymphopenia, Recurrent respiratory infections, Abno... |
ORPHA:2268 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:614520 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Osteoporosis, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Aplastic a... |
OMIM:613989 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia, Jaundice |
ORPHA:290 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Osteopenia, Calvarial hyperostosis, Exocrine pancre... |
OMIM:612714 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Infectious encephalitis, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Meningi... |
OMIM:267700 |
| Q Fever |
|
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Unusual infection, Hepatitis, Anemia, Spl... |
ORPHA:781 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, In... |
OMIM:259700 |
| Mgat2-Cdg |
|
Abnormal bleeding, Decreased circulating IgG level, Decreased circulating antibody level, Impaire... |
ORPHA:79329 |
| Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Recurrent infec... |
ORPHA:1830 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Infectious encephalitis, Recurrent herpes, Neutropenia in presence of anti-neu... |
ORPHA:391487 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:77260 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Recurrent lower ... |
ORPHA:508542 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Osteopenia, Splenomegaly |
OMIM:618107 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice |
OMIM:246400 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis |
OMIM:613313 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Hepatic hemangioma |
ORPHA:141184 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Ascites, Lymphadenopathy, Osteoporosis, Bone-marrow foam cells, Splenomegaly, Micro... |
OMIM:257200 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... |
ORPHA:231222 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary ... |
ORPHA:79301 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Sepsis In Premature Infants |
|
Leukocytosis, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Anemia, Splenomegal... |
ORPHA:90051 |
| Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Hepatomegaly, Neutropenia, Recurrent infections, Ane... |
OMIM:260400 |
| Omenn Syndrome |
|
Sepsis, Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Sple... |
ORPHA:39041 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
| Spondylometaphyseal Dysplasia, Axial |
|
Recurrent pneumonia, Splenomegaly |
OMIM:602271 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis |
ORPHA:391 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Anemia, Abnormality of the pancreas, Reduced bone mineral density, Lymphopeni... |
ORPHA:935 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Autosomal Agammaglobulinemia |
|
Sepsis, Agammaglobulinemia, Neutropenia, Hepatitis, Recurrent infections, Meningitis, Recurrent r... |
ORPHA:33110 |
| Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
| Immunodeficiency 23 |
|
Severe varicella zoster infection, Neutropenia, Eosinophilia, Abscess, Increased circulating IgG ... |
OMIM:615816 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hyp... |
OMIM:617388 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... |
OMIM:300908 |
| Sickle Cell Anemia |
|
Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenom... |
OMIM:603903 |
| Pneumocystosis |
|
Abnormal neutrophil count, Chronic oral candidiasis, Increased circulating antibody level, Pneumo... |
ORPHA:723 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myeloid leukemia, Myelofibrosis |
OMIM:616604 |
| Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production |
OMIM:614900 |
| Wiskott-Aldrich Syndrome |
|
Intracranial hemorrhage, Abnormal platelet function, Petechiae, Gingival bleeding, Epistaxis, Abn... |
ORPHA:906 |
| Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
| Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Thr... |
ORPHA:905 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Osteoporosis, Anemia, Bone marrow hypocellularity, Cirrhosis, Lymphopenia, Thrombocytopenia, Apla... |
OMIM:127550 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
| Nijmegen Breakage Syndrome |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Recurrent bronchitis, Recur... |
OMIM:251260 |
| Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Radial club hand, Leukopenia, Anemia, Recurrent urinary t... |
OMIM:617053 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
| Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Myelofibrosis, Ane... |
ORPHA:3260 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
| Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:618892 |
| Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Ascites, Anemia, Cholestasis, Thrombocytopenia |
OMIM:608104 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Osteopenia |
OMIM:269920 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Recurrent infections, Neutropenia |
OMIM:617056 |
| Spherocytosis, Type 4 |
|
