Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Immunodeficiency 18 |
|
Lymphopenia, Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Recurr... |
OMIM:615615 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... |
ORPHA:98848 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... |
OMIM:601859 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology, Autoimmunity |
OMIM:609529 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... |
OMIM:269840 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... |
OMIM:608971 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... |
OMIM:240500 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
Immunodeficiency 52 |
|
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... |
OMIM:617514 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Absence of... |
ORPHA:277 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity, Decreased proportio... |
OMIM:614493 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymphocytopenia, Incr... |
ORPHA:2442 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... |
OMIM:614470 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Smooth muscle antibody positivity, Spl... |
OMIM:603909 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... |
ORPHA:98850 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Skin rash, Decreas... |
OMIM:619924 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... |
ORPHA:444463 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, A... |
OMIM:300635 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Recurrent sinusiti... |
OMIM:613101 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Cutaneous mastocytosis |
ORPHA:280785 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ly... |
OMIM:619164 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:617241 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,... |
OMIM:618852 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... |
OMIM:300400 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... |
OMIM:616100 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... |
ORPHA:411593 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Autoimmu... |
ORPHA:169079 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells,... |
OMIM:619802 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Immunodeficiency 69 |
|
Leukocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymph... |
OMIM:308240 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmunity, Autoimmune hemolytic a... |
OMIM:618495 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Anticardiolipi... |
OMIM:615559 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Lymphopenia, Pyoderma, Aplasia of the thymus, Abnormally low T cell recept... |
OMIM:242700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... |
OMIM:308230 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... |
OMIM:600802 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Hepatomegaly, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... |
OMIM:615122 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:35078 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... |
OMIM:616005 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Hemophagocytosis, Skin rash, Splenomegaly, Thrombocytopenia, Neutro... |
OMIM:603552 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, ... |
ORPHA:37748 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hepatomegaly, Hemophagocy... |
OMIM:301078 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:572 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... |
OMIM:619375 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, Eosinophilia, Abnor... |
OMIM:602450 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Increased circu... |
OMIM:610163 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Lymphadenitis, Hepatos... |
OMIM:618935 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Pneumonia, Splenomegaly |
OMIM:226990 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... |
OMIM:613011 |
Immunodeficiency 7 |
|
Autoimmunity, Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections |
OMIM:618847 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy,... |
OMIM:611762 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Decreased circulating antibody level, Hepatomegaly, Lymphopenia |
OMIM:605309 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Thrombocytopenia, Decreased specific antibody response to vaccination, Uveitis... |
OMIM:614700 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Periodontitis, Recurrent bacterial skin infections, Neutropenia, V... |
ORPHA:167 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Mastocytosis |
|
Hepatomegaly, Splenomegaly, Mastocytosis, Chronic leukemia, Acute leukemia |
ORPHA:98292 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Autoimm... |
ORPHA:48377 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... |
OMIM:613179 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... |
ORPHA:507 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Autoimmunity, Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Viral he... |
ORPHA:2137 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent skin infections, Extramedullary hematopoiesis... |
OMIM:612840 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... |
OMIM:102700 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Bare Lymphocyte Syndrome, Type Ii |
|
Colitis, Viral hepatitis, Panhypogammaglobulinemia, Biliary tract abnormality, Chronic mucocutane... |
OMIM:209920 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233710 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Hepatomegaly, Lymphopenia, Skin rash, Splenomega... |
OMIM:617591 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Hypersplenism, Uveitis, Bon... |
ORPHA:3261 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Splenomegaly, Eczema, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233690 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemi... |
OMIM:616050 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy |
ORPHA:42642 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Splenomegaly, Anemia, Chronic otitis media, Abnormal lymphocyte morpholo... |
ORPHA:47612 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... |
OMIM:615952 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Uve... |
OMIM:617388 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... |
ORPHA:3226 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin |
ORPHA:542592 |
Amyloidosis, Familial Visceral |
|
Cholestasis, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:105200 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow hypocellulari... |
ORPHA:443811 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Abnormal lymphocyte morp... |
ORPHA:3162 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Sea-Blue Histiocytosis |
|
Blepharitis, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thr... |
ORPHA:158029 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Myocarditis, Arthritis, Genera... |
ORPHA:829 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Juvenile rheumatoid arthritis, ... |
ORPHA:275 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
OMIM:620010 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Pericardi... |
ORPHA:85414 |
Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Eczematoid dermatitis, Chro... |
ORPHA:83471 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Hepatocellular carcinoma, Thromb... |
ORPHA:158057 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Sple... |
OMIM:612714 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia,... |
ORPHA:100026 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia |
OMIM:613313 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... |
ORPHA:79301 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis |
ORPHA:2135 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Neutrophilia, Splenomegaly,... |
OMIM:260920 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Autoimmunity, Lymphadenopathy |
ORPHA:56425 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia, Panniculitis |
OMIM:618398 |
Wiskott-Aldrich Syndrome |
|
Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... |
OMIM:301000 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Anticardiolipin IgG a... |
ORPHA:64743 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Periodontitis, Hepatomegaly, Hemophagocytosis, Splenomegaly,... |
OMIM:214500 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Pneumonia... |
ORPHA:39041 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Liver kidney microsome type 1 antibody positivity, Smooth muscle antib... |
ORPHA:562639 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Immunodeficiency 58 |
|
Colitis, Eczema, Chronic otitis media, Decreased specific antibody response to vaccination, Decre... |
OMIM:618131 |
Common Variable Immunodeficiency |
|
Lymphopenia, Otitis media, Splenomegaly, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... |
ORPHA:1572 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:306400 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice |
OMIM:619658 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... |
OMIM:616278 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Splenomegaly, Arthritis |
OMIM:602390 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrop... |
ORPHA:1451 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Systemic lupus erythematosus, Splenomegaly, Chronic lymphatic leukemia, Autoimmunity, Autoimmune ... |
ORPHA:90033 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia |
OMIM:230900 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp... |
OMIM:614576 |
Prolidase Deficiency |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Eczema, Crusting erythematous d... |
OMIM:170100 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Majeed Syndrome |
|
Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Hepatomegaly, Splenomegaly, Leukocy... |
ORPHA:77297 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Chronic Granulomatous Disease |
|
Sinusitis, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Mediastinal lymphadenopathy, Liver a... |
ORPHA:379 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Hyperbil... |
ORPHA:542323 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Hurler-Scheie Syndrome |
|
Abnormality of the tonsils, Rhinitis, Hepatomegaly, Splenomegaly |
ORPHA:93476 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Aplastic anemia, Hem... |
ORPHA:398124 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis |
OMIM:618892 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Q Fever |
|
Increased circulating antibody level, Antiphospholipid antibody positivity, Hepatomegaly, Anticar... |
ORPHA:781 |
Hereditary Orotic Aciduria |
|
Anemia, Impaired T cell function, Splenomegaly |
ORPHA:30 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Hermansky-Pudlak Syndrome 2 |
|
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Neutrope... |
OMIM:608233 |
Farber Lipogranulomatosis |
|
Lipogranulomatosis, Hepatomegaly, Splenomegaly, Arthritis |
OMIM:228000 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, A... |
ORPHA:158048 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Eczema, Pneumonia, Eczematoid dermatitis, Colitis, Osteomyelitis, Inflammatory abnorma... |
ORPHA:37042 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hypochromic anemia, P... |
OMIM:618213 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Eczema, Pancytopenia, Bone marrow hypocellularity, Splenomegaly, Arthritis, Hashimo... |
OMIM:615688 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune throm... |
ORPHA:227990 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:75234 |
Immunodeficiency 54 |
|
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... |
OMIM:224120 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Leuk... |
ORPHA:77259 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, He... |
OMIM:617394 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... |
OMIM:258900 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... |
OMIM:602347 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Arthritis, Uveitis, Recurrent aphthous stomatitis, Anemia,... |
ORPHA:575 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools |
OMIM:613812 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circulating total IgA, D... |
OMIM:300972 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, B lymphocytopenia, Pneumonia, Decreased proportion of naive T cells, Colitis, Osteomye... |
OMIM:619381 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hemophagocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thromboc... |
OMIM:603553 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune throm... |
ORPHA:227982 |
Brucellosis |
|
Hepatomegaly, Myocarditis, Thrombocytopenia, Epididymitis, Pneumonia, Knee osteoarthritis, Perica... |
ORPHA:1304 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm... |
OMIM:278000 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Maculopa... |
ORPHA:822 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encepha... |
ORPHA:549 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Hepatomegaly, Pustule, Skin rash, Neutrophilia, Splenomegaly, Abscess, Stomatitis |
OMIM:612852 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Hepatomegaly, Splenomegaly |
OMIM:201100 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Abnormal pro... |
ORPHA:1830 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Uveitis, Bronchiectasis, Erythema nodosum |
OMIM:612387 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Anti-thyroid perox... |
ORPHA:64744 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... |
OMIM:139090 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Cirrhosis, Arthritis, Thrombocytopenia, Hepatitis, Acute hepa... |
ORPHA:905 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... |
ORPHA:2968 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Anemia, Arthritis, Impaired platelet aggregation, Chroni... |
OMIM:210250 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Chronic otitis media, Thrombocytopenia, Hemolytic anemia, Pneumonia, ... |
ORPHA:169090 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... |
OMIM:612301 |
Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Skin rash, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Uveitis, Psoriasif... |
ORPHA:92 |
Mixed Connective Tissue Disease |
|
Gastritis, Hepatomegaly, Skin rash, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myosit... |
ORPHA:809 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis, Lymphadenopathy |
ORPHA:3386 |
Vici Syndrome |
|
Decreased circulating IgG level, Left ventricular hypertrophy, Decreased T cell activation, Decre... |
OMIM:242840 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Ascites, ... |
ORPHA:131 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... |
OMIM:603903 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Panniculitis |
ORPHA:33577 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Iridocyclitis, Hepatomegaly, Splenomegaly, Mediastinal lymp... |
OMIM:181000 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice, ... |
OMIM:607765 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Infection-Related Hemolytic Uremic Syndrome |
|
Acute colitis, Increased circulating interleukin 6 concentration, Hypocalcemia, Pancreatitis, Leu... |
ORPHA:544482 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Eosinophilia, Increased circu... |
ORPHA:449432 |
Familial Mediterranean Fever |
|
Crohn's disease, Orchitis, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, E... |
OMIM:249100 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eczema, Lymphadenitis, Inflammation of the large intest... |
OMIM:615895 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Skin rash, Splenomegaly, Leukocytosis, Peritonitis, Erysipelas, Myositis, Arthritis, Uv... |
ORPHA:32960 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Portal hypertension, Bil... |
ORPHA:567983 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation |
OMIM:613027 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly |
OMIM:235555 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Otitis media, Hypoplasia of the thymus, Monocytosis, Hep... |
OMIM:612541 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:207750 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Gaucher Disease, Type I |
|
Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:230800 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Fetal ascites, B... |
OMIM:257220 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Pancreatitis, Hepatomegaly, Splenomegaly, Recurrent pancreatitis |
OMIM:615947 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Neoplasm of the gallbladder, Cholangiocarcinoma, Abnormal biliary tract morpholog... |
ORPHA:171 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating antibody level, Hepatomegaly, Skin rash, Splenomegaly, Atopic dermatitis, C... |
OMIM:615846 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Normocytic anemia, C... |
OMIM:611881 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... |
ORPHA:29073 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Pustule, Skin rash, Splenomegaly, Cervical lymphadenopathy, Lymphocytosis, Abnormal... |
ORPHA:50918 |
Syndromic Diarrhea |
|
Colitis, Gastritis, Hepatoblastoma, Hepatomegaly, Splenomegaly, Lymphopenia, Cirrhosis, Hypoplasi... |
ORPHA:84064 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... |
OMIM:263200 |
Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly |
OMIM:238600 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Gout, In... |
OMIM:232220 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... |
OMIM:256040 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Hemoperitoneum, Neutrophilia, Myocarditis, Thrombocytopenia, Epididymitis, Pancytop... |
ORPHA:99827 |
Familial Mediterranean Fever |
|
Pancreatitis, Orchitis, Skin rash, Splenomegaly, Osteoarthritis, Peritonitis, Erysipelas, Arthrit... |
ORPHA:342 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures, Psoriasiform dermatitis |
ORPHA:2237 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Pancreatitis, Vacuolated lymphocytes, Hepatomegaly, Splenom... |
ORPHA:565612 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... |
ORPHA:731 |
Blau Syndrome |
|
Keratitis, Iridocyclitis, Skin rash, Splenomegaly, Anemia, Abnormal inflammatory response, Poster... |
ORPHA:90340 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Abnormality of ... |
ORPHA:567 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Digeorge Syndrome |
|
Cholelithiasis, Splenomegaly, Anemia, Hypoplasia of the thymus, Impaired T cell function, Recurre... |
OMIM:188400 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Impaired T cell function, Allergic conjunctivitis |
OMIM:176690 |