Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Immunodeficiency 86 |
|
Increased circulating IgM level, BCGitis, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... |
OMIM:613501 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... |
OMIM:616022 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Decreased circulating IgG level, Lym... |
OMIM:247630 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
Athrombia, Essential |
|
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time |
OMIM:209050 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportion of CD8... |
OMIM:614493 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613500 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:173590 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... |
ORPHA:482 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:300400 |
Immunodeficiency 48 |
|
Recurrent candida infections, Failure to thrive, Splenomegaly, Panhypogammaglobulinemia, Absence ... |
OMIM:269840 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia |
ORPHA:2688 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Immunodeficiency 15A |
|
Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-po... |
OMIM:618204 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
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 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... |
OMIM:300310 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... |
OMIM:619802 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal platelet function, Abno... |
ORPHA:2585 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Prolonged bleeding time |
OMIM:615888 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Whim Syndrome 2 |
|
Severe infection, Chronic neutropenia, Recurrent gingivitis |
OMIM:619407 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Bleeding Disorder, Platelet-Type, 21 |
|
Recurrent viral infections, Impaired platelet aggregation, Thrombocytopenia |
OMIM:617443 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media |
OMIM:266265 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... |
OMIM:614372 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... |
OMIM:607624 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal mitral valve morphology, Abnormal platelet function |
ORPHA:903 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... |
OMIM:608184 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia, Increased circulating IgE level |
OMIM:618523 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l... |
OMIM:613953 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Absence of lymph node... |
ORPHA:277 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Absence of CD8-positive T cells, Recu... |
OMIM:608957 |
Candidiasis, Familial, 1 |
|
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... |
OMIM:607850 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Eosinophilia, Increased circulating IgE level |
OMIM:147060 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Impaired platelet ag... |
OMIM:173470 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Increased circulating IgE level |
OMIM:270300 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Decreased circulating antibody level, Intermittent thrombocytopenia, Ne... |
OMIM:616740 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... |
OMIM:616941 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Abnormality of the thyroid gland, Diabetes mellitus |
ORPHA:542592 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233710 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Eosinophilia |
OMIM:248100 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:209920 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody l... |
ORPHA:353298 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hypothyroidism, Type... |
OMIM:304790 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... |
OMIM:601399 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233690 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... |
ORPHA:911 |
Reticular Dysgenesis |
|
Skin rash, Leukopenia, Chronic otitis media, Abnormality of neutrophils, Decreased circulating an... |
ORPHA:33355 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis |
OMIM:216950 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulm... |
OMIM:308240 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Chondrocalcinosis 2 |
|
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis |
OMIM:118600 |
Immunodeficiency 102 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop... |
OMIM:301082 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... |
OMIM:619220 |
Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia |
OMIM:608898 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... |
ORPHA:572 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy... |
ORPHA:90045 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Absent specific antibody response, Ap... |
OMIM:102700 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency 20 |
|
Recurrent oral herpes, Severe varicella zoster infection, Reduced natural killer cell activity, R... |
OMIM:615707 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Immunodeficiency 52 |
|
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... |
OMIM:617514 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia with warm-up phenomenon, Percussion myotonia, Handgrip myotonia, Myotonia, EMG: myotonic... |
OMIM:160800 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ... |
ORPHA:443811 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Chilblain Lupus |
|
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, S... |
ORPHA:90280 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... |
OMIM:601495 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia... |
OMIM:617388 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... |
OMIM:139090 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocytopenia, ... |
ORPHA:217390 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... |
ORPHA:449400 |
Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections |
OMIM:242850 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent skin inf... |
OMIM:619752 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Benign Cephalic Histiocytosis |
|
Histiocytosis, Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis |
ORPHA:50809 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Recurrent bacterial skin ... |
ORPHA:276 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Splenomegaly, Mastocytosis, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis |
OMIM:154800 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
Selective Igm Deficiency |
|
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... |
ORPHA:331235 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu... |
OMIM:616005 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Cutaneous abscess, Chronic furunculosis, Pyoderma gangrenosum |
OMIM:619986 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis, Decreased circulating antibod... |
OMIM:616576 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:277480 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... |
ORPHA:3261 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, Lymphadenopathy |
OMIM:619644 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Autoimmune thromb... |
OMIM:613496 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, Lymphadenitis, Hem... |
OMIM:618935 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
OMIM:609655 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, T... |
OMIM:615607 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Lymphopenia |
OMIM:617425 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Neutropenia, Chronic oral candidiasis, Splenomegaly, Recurrent ... |
OMIM:608233 |
Congenital Atransferrinemia |
|
Anemia, Arthritis |
ORPHA:1195 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Diabetes mellitus, Decreased response to growth h... |
ORPHA:811 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos... |
OMIM:301078 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ... |
OMIM:615816 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Cryptorchidism, Monocytosis |
OMIM:610680 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia |
ORPHA:64741 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... |
ORPHA:3132 |
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 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Barth Syndrome |
|
Abnormality of neutrophils, Dilated cardiomyopathy |
ORPHA:111 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, P... |
ORPHA:101096 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Leishmaniasis |
|
Increased circulating antibody level, Rhinitis, Splenomegaly, Pallor, Leukopenia, Abnormal macrop... |
ORPHA:507 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thrombocytopenia, Conjunctivitis |
OMIM:603552 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Arthritis, Hepatitis, Recurrent pneumo... |
ORPHA:47 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:301000 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... |
OMIM:308230 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... |
ORPHA:48104 |
Granulomatous Disease, Chronic, X-Linked |
|
Impaired oxidative burst, Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella... |
OMIM:306400 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed ossification of carpal... |
OMIM:105835 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Paradoxical myotonia, Cold-sensitive myotonia, Myotonia, Myotonia of the ja... |
ORPHA:684 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Omenn Syndrome |
|
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Hypothyroidism, Anemia,... |
ORPHA:39041 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... |
ORPHA:33110 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Hermansky-Pudlak Syndrome 6 |
|
Recurrent upper respiratory tract infections, Impaired ADP-induced platelet aggregation, Prolonge... |
OMIM:614075 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Anemia, Impaired platelet aggregation, Chronic hemolytic... |
OMIM:210250 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... |
OMIM:614700 |
Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Aspergillosis |
|
Eosinophilia, Increased circulating IgE level, Neutropenia |
ORPHA:1163 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Abnormality of the testis size, Ovarian cyst, Eosinophilia,... |
ORPHA:400 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... |
OMIM:300291 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Abnormal lymphocyte morphology, Arthritis, Abnormality of neu... |
ORPHA:229717 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased p... |
OMIM:603585 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Roifman Syndrome |
|
Eosinophilia, Lymphadenopathy, Splenomegaly |
OMIM:616651 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Chronic oral candidiasis, Leukocytosis, Recurrent tonsillitis, Polyc... |
ORPHA:2968 |
Pontocerebellar Hypoplasia, Type 14 |
|
Simplified gyral pattern, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Thymic Aplasia |
|
Recurrent candida infections, Decreased proportion of naive T cells, Recurrent streptococcus pneu... |
ORPHA:83471 |
Pontocerebellar Hypoplasia, Type 15 |
|
Simplified gyral pattern, Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... |
OMIM:214500 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Arthritis, Purpura, Neutropenia, Anemia |
OMIM:604250 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the large in... |
OMIM:608809 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec... |
OMIM:618982 |
Von Willebrand Disease, Type 1 |
|
Mitral valve prolapse, Impaired platelet aggregation, Aortic valve stenosis, Prolonged bleeding time |
OMIM:193400 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib... |
OMIM:613101 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Petechiae, Neutropenia |
OMIM:616216 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation |
OMIM:614076 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hypoplasia of the ... |
OMIM:208900 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Prolonged bleeding tim... |
OMIM:614074 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormality of the thyroid gland, Abnormal pancreas morphol... |
ORPHA:449432 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Recurrent bacter... |
OMIM:613179 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Autosomal Dominant Hyper-Ige Syndrome |
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Eosinophilia, Increased circulating IgE level |
ORPHA:2314 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Hypothyroidism, Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Immunoglobulin A Deficiency 1 |
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Decreased circulating IgA level |
OMIM:137100 |
Rippling Muscle Disease 2 |
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Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
Specific Granule Deficiency 2 |
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Recurrent otitis media, Sepsis, Recurrent bacterial infections, Recurrent pneumonia, Neutropenia,... |
OMIM:617475 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Cystic acne, Colitis, Sterile abscess, Hepatosplenomegaly, Arthritis, Acne, Thrombocytosis, Micro... |
OMIM:604416 |
Anemia, Sideroblastic, 5 |
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Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
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Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
Liddle Syndrome 2 |
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Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Ataxia-Pancytopenia Syndrome |
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Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Colitis, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, Aplastic anemia... |
OMIM:300635 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Anemia, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Multicentric Reticulohistiocytosis |
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Histiocytosis, Arthritis |
ORPHA:139436 |
Myotonia Congenita, Autosomal Recessive |
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Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up phenomenon, Myotonia |
OMIM:255700 |
Aggressive Systemic Mastocytosis |
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Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu... |
ORPHA:158057 |
Glanzmann Thrombasthenia |
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Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time |
ORPHA:849 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased circulating IgA level, Abnormal circulating IgM level, Recurrent viral infections, Recu... |
OMIM:618048 |
Eosinophilic Gastroenteritis |
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Eosinophilia, Anemia, Leukocytosis |
ORPHA:2070 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
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Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... |
OMIM:208250 |
Deafness, Neural, With Atypical Atopic Dermatitis |
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Increased circulating IgE level |
OMIM:221700 |
Classic Mycosis Fungoides |
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Skin rash, Splenomegaly, Eczema, Erythema, Dry skin, Skin ulcer, Abnormal lymphocyte morphology |
ORPHA:2584 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
Immunodeficiency 96 |
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Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Obesity Due To Congenital Leptin Deficiency |
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Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Systemic Lupus Erythematosus |
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Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri... |
OMIM:152700 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
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Myotonia |
OMIM:254950 |
Cirrhosis, Familial |
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Increased circulating antibody level |
OMIM:118900 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
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Hyperkalemia |
OMIM:609153 |
Transcobalamin Ii Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:275350 |
Mu-Heavy Chain Disease |
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Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia |
ORPHA:100024 |
Alveolar Echinococcosis |
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Cutaneous abscess, Increased circulating antibody level, Pancreatic cysts, Abnormal spleen morpho... |
ORPHA:284 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomeg... |
OMIM:612541 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Agammaglobulinemia, X-Linked |
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Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... |
OMIM:300755 |
Immunodeficiency 27A |
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Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Complement Component 3 Deficiency, Autosomal Recessive |
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Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Immunodeficiency 76 |
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Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Dracunculiasis |
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Skin ulcer, Arthritis, Skin rash, Recurrent cutaneous abscess formation |
ORPHA:231 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Ecchymosis, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Ret... |
ORPHA:88 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... |
ORPHA:3226 |
Igg4-Related Pachymeningitis |
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Increased circulating IgG4 level, Eosinophilia, Parotitis, Lymphadenitis |
ORPHA:449427 |
Cyclic Neutropenia |
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Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Cyclic neutropenia, Perianal absces... |
ORPHA:2686 |
Mantle Cell Lymphoma |
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Weight loss, Splenomegaly |
ORPHA:52416 |
Hypokalemic Periodic Paralysis, Type 1 |
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Hypokalemia |
OMIM:170400 |
Immunodeficiency 13 |
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Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:615518 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Mgat2-Cdg |
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Decreased lymphocyte proliferation in response to mitogen, Recurrent upper and lower respiratory ... |
ORPHA:79329 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Iron deficiency anemia, Decreased serum thromboxane B2, Impaired platelet aggregation, Abnormal c... |
OMIM:618372 |
Felty Syndrome |
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Sinusitis, Rhinitis, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morphology, Pericard... |
ORPHA:47612 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
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Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Recurrent... |
OMIM:606367 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... |
ORPHA:508533 |
Neutrophilic Dermatosis, Acute Febrile |
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Cystic acne, Increased circulating interleukin 6 concentration, Acne inversa, Erythema, Anemia, P... |
OMIM:608068 |
Myeloproliferative Syndrome, Transient |
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Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Paramyotonia Congenita Of Von Eulenburg |
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Percussion myotonia, Paradoxical myotonia, Handgrip myotonia |
OMIM:168300 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis |
OMIM:248910 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Recurrent bacterial skin infections, Neutropenia, Vacuolated lymph... |
ORPHA:167 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280785 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Slc35A1-Cdg |
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Neutropenia, Pneumonia, Giant platelets, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Hypocalcemia, Autosomal Dominant 1 |
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Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Hermansky-Pudlak Syndrome 11 |
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Impaired collagen-induced platelet aggregation, Reduced platelet dense granules |
OMIM:619172 |
Fanconi Anemia, Complementation Group V |
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Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Hyperkalemic Periodic Paralysis |
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Hyperkalemia |
OMIM:170500 |
Letterer-Siwe Disease |
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Pallor, Seborrheic dermatitis, Hepatosplenomegaly, Stomatitis, Neutropenia, Anemia, Thrombocytopenia |
OMIM:246400 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... |
OMIM:307200 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Failure to thrive, Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG le... |
OMIM:618495 |
Diamond-Blackfan Anemia 8 |
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Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Immunodeficiency 92 |
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Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... |
OMIM:619652 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
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Neutropenia |
OMIM:616949 |
Immunodeficiency 60 And Autoimmunity |
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Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
Leukocyte Adhesion Deficiency, Type Iii |
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Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Recurrent bacterial... |
OMIM:612840 |
Wolfram Syndrome, Mitochondrial Form |
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Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Familial Calcium Pyrophosphate Deposition |
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Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Limitation of jo... |
ORPHA:1416 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... |
ORPHA:35858 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Pelger-Huet Anomaly |
|
Recurrent otitis media, Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils... |
OMIM:169400 |
Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia |
OMIM:304900 |
Renal Tubular Acidosis, Distal, 1 |
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Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|