Immunodeficiency 18 |
|
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Wiskott-Aldrich Syndrome 2 |
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Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... |
OMIM:614493 |
Okt4 Epitope Deficiency |
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Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Defective T cell proliferation, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Histiocytosis, Familial Lipochrome |
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Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
Immunodeficiency 25 |
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Recurrent candida infections, Increased circulating IgA level, Smooth muscle antibody positivity,... |
OMIM:610163 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... |
OMIM:619220 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increa... |
OMIM:601859 |
Iron Overload In Africa |
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Elevated transferrin saturation |
OMIM:601195 |
Immunodeficiency 48 |
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Recurrent candida infections, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Absence of CD... |
OMIM:269840 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Immunodeficiency 86 |
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Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Elevated circulating C-reactive protein concentration, Hepatomegaly, Hemophagocytosis, Aplastic a... |
OMIM:308240 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... |
OMIM:616005 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Lymphoma, Hodgkin, Classic |
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Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunoglobulin A Deficiency 2 |
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Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Autoimmunity,... |
OMIM:609529 |
Lymphoid System Deterioration, Progressive |
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Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Recurrent viral infections, Increased circulating antibody level, Increased circulating IgG level... |
ORPHA:169154 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Atherosclerosis Susceptibility |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Agammaglobulinemia 2, Autosomal Recessive |
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Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613500 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Tn Polyagglutination Syndrome |
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Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Reticular Dysgenesis |
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Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... |
OMIM:205950 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency, Common Variable, 3 |
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Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... |
OMIM:618944 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Antinuclear antibody pos... |
OMIM:613495 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... |
OMIM:212050 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increa... |
OMIM:603909 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Immunodeficiency 97 With Autoinflammation |
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Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... |
OMIM:619802 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... |
OMIM:618987 |
Agammaglobulinemia 6, Autosomal Recessive |
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Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:612692 |
Immunodeficiency 27A |
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Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Increa... |
OMIM:209950 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Autoimmunity,... |
OMIM:137100 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... |
OMIM:300400 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased cir... |
OMIM:308230 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... |
OMIM:614470 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, Recurrent upper respiratory tract infections, Recurrent opp... |
ORPHA:277 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immunodeficiency 95 |
|
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... |
OMIM:619773 |
Immunodeficiency 50 |
|
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... |
OMIM:300988 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Abnormal ... |
OMIM:618048 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... |
ORPHA:90283 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:158061 |
Immunodeficiency 72 With Autoinflammation |
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Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec... |
OMIM:618982 |
Selective Igm Deficiency |
|
Onychomycosis, Recurrent infection of the gastrointestinal tract, Rheumatoid arthritis, Sepsis, S... |
ORPHA:331235 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia, Platelet antibody positive |
OMIM:188030 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... |
OMIM:607271 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... |
OMIM:613501 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... |
OMIM:616941 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Recurrent respiratory infections |
OMIM:241600 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Congenital Pancreatic Cyst |
|
Pancreatitis, Jaundice |
ORPHA:313906 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... |
OMIM:615559 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616911 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decreased... |
ORPHA:331206 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Recurrent respiratory infections |
OMIM:615206 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG level, ... |
OMIM:618495 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Elevated circulating C-reactive protein concent... |
OMIM:619632 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Immunodeficiency 52 |
|
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... |
OMIM:617514 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... |
ORPHA:911 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... |
ORPHA:90362 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infect... |
ORPHA:276 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... |
ORPHA:169160 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Primary Membranoproliferative Glomerulonephritis |
|
Decreased serum complement C3, Hypoalbuminemia, C3 nephritic factor positivity |
ORPHA:54370 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... |
OMIM:202700 |
Complement Component C1S Deficiency |
|
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Aplasia of the eccrine sweat gla... |
OMIM:300291 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... |
ORPHA:444463 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Candida esophagitis, Neutrophil... |
OMIM:619281 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... |
ORPHA:507 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Oligospermia, Decreased HDL cholesterol concentration, H... |
OMIM:615703 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Recurren... |
OMIM:616000 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:300636 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... |
OMIM:618261 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni... |
ORPHA:2442 |
Primary Biliary Cholangitis |
|
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Abnormal circulating... |
ORPHA:186 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Chronic oral candidiasis, Chronic decreased cirulating IgG2, T lymphoc... |
OMIM:615607 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Cholestatic liver disease, Hyperbilirubinemia,... |
ORPHA:562639 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:540 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si... |
OMIM:618969 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... |
OMIM:613011 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Eos... |
OMIM:243700 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Immunodeficiency 23 |
|
Neutropenia, Lymphopenia, Eosinophilia, Abscess, Rheumatoid factor positive, Increased circulatin... |
OMIM:615816 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Autoimmunity, Recurrent infections, Decreased serum complement fact... |
OMIM:613652 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoalbuminemia, Jaundice |
OMIM:617156 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating anti... |
OMIM:226300 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Immunodeficiency, Common Variable, 10 |
|
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... |
OMIM:615577 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice |
OMIM:243300 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen... |
ORPHA:217390 |
Immunodeficiency 37 |
|
Recurrent infections, Decreased proportion of central memory CD4-positive, alpha-beta T cells, De... |
OMIM:616098 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear antineutrophil anti... |
OMIM:618394 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Hepatic fibrosis, Cholesterol gallstone... |
OMIM:600803 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Sple... |
OMIM:616100 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... |
OMIM:242850 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Autoimmunity |
OMIM:612227 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Sepsis, Decreased prealbumin level, Anti-thyroid peroxidase antibody p... |
ORPHA:37042 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis |
OMIM:618805 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Immunoglobulin M, Level Of |
|
Meningitis, Decreased circulating total IgM |
OMIM:308250 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron |
OMIM:603358 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... |
OMIM:615767 |
Congenital Analbuminemia |
|
Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, ... |
ORPHA:86816 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... |
OMIM:267700 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... |
OMIM:301000 |
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 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Reduced circulating transferrin concentration, Lymphopenia, Cirr... |
ORPHA:90363 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... |
OMIM:603553 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... |
ORPHA:411593 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Sepsis, Leukopenia, Cholestasis, Abnormal macrophage morphology, Me... |
ORPHA:292 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification |
OMIM:608189 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Elevated circulating C-reactive protein concentrat... |
OMIM:617099 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Chilblain Lupus |
|
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... |
ORPHA:90280 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Recurrent bronchopulmonary infections, Hepatomegaly, Splenomegaly, Sepsis, Leukopeni... |
OMIM:617303 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Hyperbilirubinemia, Lymphocytosis, ... |
ORPHA:1667 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Micropenis, Hyperphosphatemia, Cryptorchidism, Hypocalcemic seizures |
OMIM:241410 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody level, Intermittent ... |
OMIM:616740 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Alg1-Cdg |
|
Recurrent infections, Sepsis, Hypoalbuminemia |
ORPHA:79327 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... |
ORPHA:70593 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Cirrhosis, Familial |
|
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... |
OMIM:604250 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Recurrent upper res... |
OMIM:613101 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
Eosinophilopenia |
|
Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism |
OMIM:612462 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Decreased circulating antibody level, Recurrent i... |
OMIM:301045 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... |
OMIM:615139 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Anemia, Splenomegaly |
ORPHA:75563 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Recurrent fungal infections, Viral hepatitis, Recurrent viral inf... |
OMIM:209920 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Decreased circulating IgG level, Hyperbilirubinemia, Microvesicular hepatic steatos... |
OMIM:613070 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopeni... |
OMIM:601457 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hypopituitarism, He... |
OMIM:619013 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Jau... |
ORPHA:65682 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Decreased circulating IgE, Decreased circulatin... |
OMIM:300755 |
Complement Component C1R/C1S Deficiency |
|
Complement deficiency, Recurrent bronchitis, Autoimmunity |
OMIM:216950 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia,... |
OMIM:619752 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia |
OMIM:246700 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Sepsis, Elevated circulating ... |
ORPHA:454836 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Abnormal penis morphology, Testicular neoplasm, Hyperphosphatemia, Polycystic... |
ORPHA:457059 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Hyperbilirubinemia, Micronodular cirrhosis, Splenomegaly, ... |
OMIM:251880 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Hepatomegaly, Splenome... |
OMIM:102700 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Jaundice, Hypoalbuminemia, Abnormality of the liver |
ORPHA:79320 |
Insulin-Resistance Syndrome Type B |
|
Systemic lupus erythematosus, Decreased serum complement factor B, Abnormal circulating fatty-aci... |
ORPHA:2298 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Rheumatoid arthritis, Sepsis, Decreased circulating IgA level, Systemic lupus erythematosus, Recu... |
ORPHA:183675 |
Nephrotic Syndrome, Type 1 |
|
Recurrent infections, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism |
OMIM:103580 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... |
ORPHA:449400 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Splenomegaly, Increased serum iron, Anemia, Elevate... |
OMIM:613313 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased serum creatinine, Recurrent lower respiratory tract in... |
OMIM:617744 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:607616 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, ... |
OMIM:147060 |
Immunodeficiency 7 |
|
Autoimmunity, Hypereosinophilia |
OMIM:615387 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hypertriglyceridemia |
ORPHA:280356 |
Temple Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Decreased testicular size, Hypercholesterolemia |
OMIM:616222 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
OMIM:251190 |
Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag... |
OMIM:615122 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... |
OMIM:618042 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... |
OMIM:619375 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Boutonneuse Fever |
|
Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level |
ORPHA:83313 |
C3 Glomerulopathy |
|
Decreased serum complement C3, Decreased serum complement C4, C3 nephritic factor positivity, Ele... |
ORPHA:329918 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification |
OMIM:167800 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Cryptorchidism, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology |
OMIM:613724 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... |
ORPHA:529808 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Cholestasis, Elevated circulating creatinine concentration, Hypoalb... |
OMIM:608104 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoalbuminemia, Hypoproteinemia, Helicobacter pylori infection |
ORPHA:2494 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Cry... |
ORPHA:79324 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Sepsis, Rheumatoid factor positive, Bone marrow hypo... |
ORPHA:443811 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytosis, Splenom... |
OMIM:301078 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... |
ORPHA:2070 |
Angiostrongyliasis |
|
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... |
ORPHA:74 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal platelet function, Abno... |
ORPHA:2585 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM, Bronchiolitis, Decreased propor... |
OMIM:614878 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Recurrent sinusitis, Decreased circulating antibody level, Recurrent pneumonia,... |
OMIM:616576 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... |
OMIM:600802 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Galloway-Mowat Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Hypoalbuminemia |
OMIM:618347 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Severe infection, Sepsis, Elevated circulati... |
ORPHA:36234 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Antiphospholipid antibody positivity, Increased circulating IgA level, Elevated circulating C-rea... |
OMIM:615934 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Sanjad-Sakati Syndrome |
|
Cryptorchidism, Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis |
ORPHA:2323 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... |
ORPHA:247585 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... |
ORPHA:90003 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Reduced natural killer cell count, Decreased circulating an... |
OMIM:618108 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Zika Virus Disease |
|
Infectious encephalitis, Meningitis, Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections |
OMIM:605309 |
Mpi-Cdg |
|
Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Portal hypertension |
ORPHA:79319 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Complement defi... |
ORPHA:449432 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Complement deficiency, Monoclonal elevation of circulating IgA, Rheumatoid facto... |
ORPHA:91139 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Igg4-Related Thyroid Disease |
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Abnormality of the pituitary gland, Hypocalcemia, Sialadenitis, Euthyroid goiter, Pancreatic fibr... |
ORPHA:64744 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
OMIM:619381 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Hepatomegaly, Rheumatoid factor positive, Bone marro... |
ORPHA:3261 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
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Thalamic calcification |
OMIM:618824 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Body Mass Index Quantitative Trait Locus 19 |
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Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Kimura Disease |
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Eosinophilia, Increased circulating IgE level, Abnormal salivary gland morphology |
ORPHA:482 |
African Iron Overload |
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Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Hypercalcemia, Infantile, 2 |
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Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Autoimmune Hepatitis |
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Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Viral he... |
ORPHA:2137 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Adrenal insufficiency, Hepatic steatosis, Pancreatitis |
OMIM:619386 |
Citrullinemia, Type Ii, Adult-Onset |
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Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Portal inflammation, Hepatic steatosis,... |
OMIM:603471 |
Nephrotic Syndrome, Type 8 |
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Hypoalbuminemia |
OMIM:615244 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Cholesteryl Ester Storage Disease |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Akt2-Related Familial Partial Lipodystrophy |
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Polycystic ovaries, Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Immunodeficiency 47 |
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Exocrine pancreatic insufficiency, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Prolonge... |
OMIM:300972 |
Immunodeficiency 22 |
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Decreased proportion of CD4-positive helper T cells, Autoimmunity |
OMIM:615758 |
Sneddon Syndrome |
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Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity |
OMIM:182410 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
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Decreased thalamic volume |
OMIM:619072 |
Kenny-Caffey Syndrome, Type 2 |
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Papilledema, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
Hyperimmunoglobulin G1(A1) Syndrome |
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Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Recurren... |
OMIM:615952 |
Agammaglobulinemia 1, Autosomal Recessive |
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Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... |
OMIM:601495 |
Neuroleptic Malignant Syndrome |
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Hypomagnesemia, Hypocalcemia, Abnormal autonomic nervous system physiology, Elevated circulating ... |
ORPHA:94093 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Lassa Fever |
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Sepsis, Jaundice, Increased circulating IgM level |
ORPHA:99824 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Cirrhosis, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circulating cer... |
OMIM:242150 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Recurrent gastroenteritis, Decreased circulating IgG level, Sepsis, Hepatosplenomegaly, Leukopeni... |
ORPHA:505248 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... |
ORPHA:88618 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Optic atrophy, Cryptorchidism, Hyperphosphatemia, Hypogonadism |
OMIM:101800 |
Primary Sclerosing Cholangitis |
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Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... |
ORPHA:171 |
Hereditary Chronic Pancreatitis |
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Pancreatic calcification, Jaundice, Recurrent pancreatitis |
ORPHA:676 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Asthma, Short Stature, And Elevated Iga |
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Increased circulating IgA level |
OMIM:208600 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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External genital hypoplasia, Hypospadias, Ovotestis, Hypertriglyceridemia, Ambiguous genitalia, C... |
OMIM:610644 |
Aicardi-Goutieres Syndrome 9 |
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Hepatomegaly, Hepatosplenomegaly, Recurrent urinary tract infections, Hemolytic anemia, Acute pan... |
OMIM:619487 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalb... |
OMIM:618183 |
Al Amyloidosis |
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