| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio... |
OMIM:615897 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Re... |
OMIM:269840 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
| Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis |
OMIM:619549 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
| Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... |
OMIM:609529 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Autoimmunity, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory trac... |
OMIM:616005 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Autoimmunity, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased T cell... |
ORPHA:98813 |
| 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 |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... |
OMIM:241600 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
| Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Severe varicella zoster infection, Recurrent tonsilliti... |
ORPHA:397596 |
| Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... |
OMIM:618944 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Meningitis, Increased circulating IgE level, Hypereo... |
OMIM:212050 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ... |
OMIM:613495 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, Thrombo... |
OMIM:226990 |
| Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa... |
OMIM:308230 |
| Immunodeficiency 27A |
|
Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating... |
OMIM:209950 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmunity, Aut... |
OMIM:614470 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Recurrent infections, Hepatosplenom... |
OMIM:618982 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Recurrent viral i... |
OMIM:618048 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Autoimmuni... |
ORPHA:158061 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Recurrent opportunistic infections, Increased circulating IgE level, Recurrent pneu... |
ORPHA:277 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Cernunnos-Xlf Deficiency |
|
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,... |
ORPHA:169079 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... |
OMIM:615559 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... |
OMIM:607594 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
| Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... |
OMIM:616636 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Decreased proportion of CD3-positive T cells, ... |
ORPHA:331206 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune he... |
OMIM:618495 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ... |
OMIM:616050 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni... |
ORPHA:275 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection... |
ORPHA:572 |
| Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Recurren... |
OMIM:240500 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i... |
ORPHA:911 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Hypomagnesemia, Cryptococcal meningitis, Decreased circulating ... |
ORPHA:90362 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Hepatitis, Recurrent candida in... |
ORPHA:169160 |
| Primary Membranoproliferative Glomerulonephritis |
|
Decreased circulating complement C3 concentration, Hypoalbuminemia, C3 nephritic factor positivity |
ORPHA:54370 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
| Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopeni... |
OMIM:615285 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Leuko... |
ORPHA:507 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... |
OMIM:300291 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
| Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Decreased circulating antibody level, Recurrent infections, He... |
OMIM:618261 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
| Immunodeficiency 15B |
|
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr... |
OMIM:615592 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-rea... |
OMIM:613011 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Hypoalbuminemia... |
OMIM:613752 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Rheumatoid factor positive, Abscess, Recurren... |
OMIM:615816 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Primary Biliary Cholangitis |
|
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... |
ORPHA:186 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... |
OMIM:243700 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced na... |
ORPHA:540 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
| Diarrhea 13 |
|
Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
| C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Autoimmunity, Decreased circulating complement factor I concentrati... |
OMIM:613652 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia,... |
OMIM:226300 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Decreased response to growth hormone... |
OMIM:615577 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia |
ORPHA:37748 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Lymphopenia, Persistent EBV viremia, Decreased circulating tota... |
OMIM:619510 |
| Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... |
ORPHA:217390 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, In... |
OMIM:616098 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... |
OMIM:618394 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
| Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Sepsis, Abnormal blood ion concentration, Iron defic... |
ORPHA:37042 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Autoimmunity |
OMIM:612227 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:615767 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... |
OMIM:193670 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Lymphopenia, ... |
OMIM:620210 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ... |
OMIM:603553 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Ab... |
OMIM:301000 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... |
ORPHA:86816 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
| Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc... |
ORPHA:90363 |
| Immunodeficiency 22 |
|
Abscess, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased ... |
OMIM:615758 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Neutropenia, Sepsis, Decreased circ... |
OMIM:616740 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617099 |
| Chilblain Lupus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... |
ORPHA:90280 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Sepsis, Hepatitis, Cholestasis, H... |
ORPHA:292 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Recurrent infections, Iron deficiency anemi... |
ORPHA:1667 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Alg1-Cdg |
|
Hypoalbuminemia, Sepsis, Recurrent infections |
ORPHA:79327 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... |
OMIM:617780 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infectio... |
OMIM:617303 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Hypocalcemia |
OMIM:612462 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Hypertriglyceridem... |
OMIM:300635 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... |
OMIM:613101 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... |
OMIM:301045 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia |
ORPHA:75563 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
| Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Cholangitis, Persistent CMV viremia, Leukocytosis, BCGosis, ... |
OMIM:619652 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... |
OMIM:300755 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Cholangitis,... |
OMIM:209920 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Increased circulating IgE level, Severe cytomegalovirus infection, Decreased circul... |
OMIM:617638 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... |
OMIM:619752 |
| Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... |
OMIM:613070 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... |
OMIM:242860 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, He... |
OMIM:619013 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... |
OMIM:606367 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Alg6-Cdg |
|
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice |
ORPHA:79320 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Hypocystinemia, Decreased serum creatinine, Recurrent lower... |
OMIM:617744 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures |
OMIM:241410 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H... |
ORPHA:83471 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Igg4-Related Aortitis |
|
Autoimmunity, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... |
ORPHA:449400 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... |
OMIM:618986 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, Decr... |
ORPHA:183675 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Meningitis, Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to ... |
OMIM:601457 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Recurrent infections |
OMIM:256300 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Autoimmunity, Decreased circulating c... |
ORPHA:2298 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... |
OMIM:147060 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism |
OMIM:103580 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Aplasia of the thymus,... |
OMIM:102700 |
| Boutonneuse Fever |
|
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia |
ORPHA:83313 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
| Hemochromatosis, Type 2B |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... |
OMIM:613313 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... |
OMIM:615122 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sepsis, Hypoal... |
ORPHA:247353 |
| C3 Glomerulopathy |
|
Autoimmunity, Paraproteinemia, Elevated circulating creatinine concentration, Recurrent infection... |
ORPHA:329918 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ... |
ORPHA:74 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... |
OMIM:614878 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Pgm3-Cdg |
|
Rheumatoid factor positive, Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased... |
ORPHA:443811 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased response to growth hormone stimulation test |
OMIM:618347 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... |
ORPHA:529799 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro... |
OMIM:301078 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Antinuc... |
OMIM:619375 |
| Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Partial absence of specific antibody response to ... |
ORPHA:79324 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentration, Ch... |
OMIM:608104 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Recurrent i... |
OMIM:616576 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
| Ménétrier Disease |
|
Hypoproteinemia, Helicobacter pylori infection, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, H... |
ORPHA:171 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Antiphospholipid antibody positivity, Rheumatoid factor positiv... |
OMIM:615934 |
| Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Elevated circulating creatine kinase concentration, Abscess, ... |
ORPHA:36234 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... |
OMIM:618108 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo... |
OMIM:618282 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Zika Virus Disease |
|
Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia, Meningitis |
ORPHA:448237 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Chronic infection, Increased circulating... |
ORPHA:139507 |
| Sanjad-Sakati Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neoplasm of the liver, S... |
ORPHA:69663 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Autoimmuni... |
ORPHA:449432 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Diffuse hepatic steatosis, An... |
ORPHA:2137 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Increased circulating IgE level, Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... |
ORPHA:178320 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level,... |
OMIM:602450 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
| Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Portal hypertension |
ORPHA:79319 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis |
OMIM:620137 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... |
ORPHA:3261 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal ... |
ORPHA:91139 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Pancreatitis, Adrenal insufficiency |
OMIM:619386 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia |
OMIM:182410 |
| Reni Syndrome |
|
Cryptorchidism, Lymphopenia, Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... |
ORPHA:64744 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Papilledema, Hypocalcemia |
OMIM:127000 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,... |
OMIM:614700 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Recurrent upper respiratory tract infections,... |
OMIM:618183 |
| Lassa Fever |
|
Increased circulating IgM level, Jaundice, Sepsis |
ORPHA:99824 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper respirato... |
OMIM:615952 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino... |
OMIM:618523 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
| Immunodeficiency 7 |
|
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Spleno... |
OMIM:615387 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula... |
ORPHA:505248 |
| Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... |
ORPHA:90003 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe... |
ORPHA:158048 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... |
ORPHA:508533 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Acute pancreatitis, Recurrent urinary tract infections, Hemolytic anemia, Portal hy... |
OMIM:619487 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Cryptorchidism, Hyperphosphatemia, Hypogonadism |
OMIM:101800 |
| Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of ... |
ORPHA:85443 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis |
OMIM:602579 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia, Cirrhosis |
ORPHA:367 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology |
ORPHA:467166 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma |
OMIM:145001 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79444 |
| Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Recurrent infections, Systemic... |
OMIM:170100 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal ... |
ORPHA:79078 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Decreased c... |
OMIM:212065 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
ORPHA:79312 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Recurrent infections |
OMIM:618985 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoim... |
ORPHA:760 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Hypocalcemic seiz... |
ORPHA:93325 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... |
ORPHA:848 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru... |
OMIM:617093 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Sepsis, Recurrent infections, Decreased circulating antibody level, Hypoalbuminemia, Anemia |
ORPHA:79396 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Invasive parasitic infection, Hepatic cysts, Abnorm... |
ORPHA:400 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
| Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Severe varicel... |
ORPHA:48435 |
| Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Meningitis, Leukocytosis, Unusual CNS infe... |
ORPHA:297 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... |
OMIM:616278 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... |
ORPHA:221139 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Rheumatoid factor positive, Elevated circulating C-rea... |
ORPHA:1304 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Severe infection, Increased circulat... |
OMIM:304790 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79443 |
| Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
| Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ... |
ORPHA:2902 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
| Rift Valley Fever |
|
Thrombocytopenia, Jaundice, Severe viral infection, Hepatitis, Increased circulating IgG level, I... |
ORPHA:319251 |
| Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology |
ORPHA:557003 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Autoimmunity, Thrombocytopenia, Recurrent pneumonia, Sepsi... |
ORPHA:47 |
| Yellow Fever |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated cir... |
ORPHA:99829 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, U... |
OMIM:618935 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Sepsis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphope... |
ORPHA:319218 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
| Hemochromatosis, Type 2A |
|
Splenomegaly, Increased serum iron, Increased circulating ferritin concentration |
OMIM:602390 |
| Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Hemolytic anemia, Decreased circulating ceruloplasmin concentra... |
OMIM:277900 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Recurrent upper respiratory tract infections, Pituitary hypothy... |
OMIM:614963 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Autoimmunity |
ORPHA:98827 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Recurrent infections, Increas... |
OMIM:617591 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Q Fever |
|
Hepatomegaly, Antiphospholipid antibody positivity, Rheumatoid factor positive, Unusual infection... |
ORPHA:781 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol... |
OMIM:617156 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Idiopathic Copper-Associated Cirrhosis |
|
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration |
ORPHA:209919 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Anemia |
OMIM:606069 |
| Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased... |
ORPHA:14 |
| Aceruloplasminemia |
|
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia |
OMIM:604290 |
| Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology |
ORPHA:404440 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... |
ORPHA:549 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Hyperuricemia, ... |
ORPHA:543 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
| Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Meningitis, Thrombocyt... |
ORPHA:3392 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia, Bile duct proliferation, Macrovesicular hepatic steatosis |
OMIM:618329 |
| Propionic Acidemia |
|
Hepatomegaly, Eczema, Pancreatitis |
OMIM:606054 |
| Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Increased circulating IgM level, Increased circulating antibody level... |
ORPHA:79139 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec... |
OMIM:256500 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... |
ORPHA:470 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... |
OMIM:618398 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Mildly elevated creatine kinase |
ORPHA:171442 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Elevated circulating alpha-fetoprotein concentratio... |
OMIM:208900 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Maple Syrup Urine Disease |
|
Pancreatitis |
OMIM:248600 |
| Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,... |
ORPHA:2552 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology, Recurrent viral infections |
ORPHA:2959 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
| Coccidioidomycosis |
|
Coccidioidal meningitis, Abscess, Eosinophilia, Abnormality of the spleen, Peritonitis, Invasive ... |
ORPHA:228123 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Autoimmunity, Recurrent viral infections, Splenomegaly, Recurrent... |
ORPHA:169090 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Recurrent infections, ... |
ORPHA:33226 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly |
OMIM:251000 |
| Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:171851 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis |
ORPHA:188 |
| Iga Pemphigus |
|
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmun... |
ORPHA:555905 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... |
OMIM:618213 |
| Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Decreased... |
OMIM:620040 |
| Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Bilateral cryptorchidism, Recurrent infections, Neutropenia, Lym... |
OMIM:616395 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis, Severe infection |
ORPHA:206594 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Decreased serum zinc, Hypoalbu... |
ORPHA:89842 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia, Complement deficiency |
ORPHA:567546 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48104 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Pancytopenia, Portal hypertension, Cholestasis, Bile duct pro... |
OMIM:613658 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic se... |
OMIM:612301 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... |
ORPHA:66628 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Autoim... |
ORPHA:100026 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
| Rasmussen Subacute Encephalitis |
|
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Pneumocystosis |
|
Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Increased circulating antibody level... |
ORPHA:723 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... |
ORPHA:125 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Re... |
ORPHA:293978 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal thalamus morphology |
ORPHA:300570 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hyp... |
ORPHA:179494 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Autoimmunity, Portal hypertension, ... |
OMIM:613385 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopeni... |
ORPHA:227990 |
| Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia |
OMIM:121270 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas... |
ORPHA:99827 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
| Mirizzi Syndrome |
|
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune hypoparathyroid... |
ORPHA:227982 |
| Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
| Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Hypoalbuminemia |
OMIM:235510 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Re... |
OMIM:260920 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Sy... |
ORPHA:90033 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Hepat... |
OMIM:232220 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume |
ORPHA:370959 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased circ... |
OMIM:607143 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
| Encephalitis Lethargica |
|
Increased circulating antibody level, Autoimmunity, Recurrent viral infections |
ORPHA:83600 |
| Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Abnormality of thyroid physiology, Minimal change glomerulonephritis |
ORPHA:1830 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Increased ... |
ORPHA:77259 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... |
ORPHA:634 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... |
ORPHA:444490 |
| Mccune-Albright Syndrome |
|
Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat... |
ORPHA:562 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thr... |
OMIM:620005 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Aspergillosis |
|
Eosinophilia, Increased circulating IgE level, Unusual CNS infection, Hepatitis, Invasive pulmona... |
ORPHA:1163 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Dysbetalipoproteinemia |
|
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Gout, Hypothyroidism |
ORPHA:412 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Recurrent infections, Hyperechogenic pancreas, Thro... |
OMIM:617941 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami |
ORPHA:59315 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Pancreatitis |
ORPHA:370348 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici... |
OMIM:260370 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... |
ORPHA:342 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... |
OMIM:602668 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H... |
ORPHA:73263 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Decreased ... |
OMIM:210900 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
OMIM:613327 |
| Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... |
OMIM:219700 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo... |
OMIM:557000 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Splenomegaly, Cryptorchidism, Cholestatic liver disease, Hypoalbuminemia, Elevated ... |
OMIM:270400 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Abno... |
ORPHA:465508 |
| Irida Syndrome |
|
Decreased circulating copper concentration |
ORPHA:209981 |
| Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Decreased reti... |
ORPHA:449395 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent infect... |
ORPHA:2314 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:617395 |
| Mogs-Cdg |
|
Hepatomegaly, Decreased circulating antibody level, Hydrocele testis, Hepatosplenomegaly, Decreas... |
ORPHA:79330 |
| Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Acute pancreatitis |
ORPHA:26791 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis,... |
ORPHA:79259 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma |
OMIM:232200 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Panniculitis, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Riddle Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recurrent pneum... |
ORPHA:420741 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
| Leigh Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:506 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
| Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc |
OMIM:601979 |
| Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:435934 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, ... |
OMIM:619534 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Abnormally low T cell receptor excision circle level |
OMIM:617341 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Splenomegaly, Auto... |
ORPHA:75565 |
| Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Increased serum iron, Increased circulating ferritin concentration |
OMIM:235200 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... |
OMIM:615710 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Increased circulating IgE level |
ORPHA:3409 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ... |
ORPHA:168558 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic hepatitis, Hepat... |
ORPHA:3260 |
| Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ... |
ORPHA:289548 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Ovarian cyst, Hypophosphatemia |
ORPHA:249 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... |
OMIM:618268 |
| Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Inflammatory abnormality of ... |
ORPHA:900 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Tay-Sachs Disease |
|
Abnormal thalamic MRI signal intensity |
ORPHA:845 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Hepatic steatosis, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
| Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Igg4-Related Ophthalmic Disease |
|
Cholangitis, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 le... |
ORPHA:449563 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami |
OMIM:619306 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume, Recurrent infections |
ORPHA:168577 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit... |
ORPHA:309854 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Increased circulating IgE level, Imbalanced hemoglobin s... |
ORPHA:330015 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Lipid accumulation in hepatocytes, Jaundice |
ORPHA:20 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
| Trichohepatoenteric Syndrome 2 |
|
Decreased serum iron |
OMIM:614602 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Abnormal circula... |
ORPHA:101330 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis |
ORPHA:565612 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Thrombocytopenia, Inc... |
ORPHA:77261 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Decreased HDL cholesterol concen... |
OMIM:256040 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level |
ORPHA:343 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Pancreatitis, Acute colitis |
ORPHA:90038 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Hypocalcemia, Aplasia of the uterus, Vaginal atresia, Hypocalce... |
ORPHA:2237 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Recurrent respiratory infections, Hypoalbuminemia |
OMIM:614748 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... |
ORPHA:733 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato... |
OMIM:232240 |
| Stevens-Johnson Syndrome |
|
Conjunctivitis, Pancreatitis |
ORPHA:36426 |
| Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity, Recurrent gastroenteritis |
ORPHA:79138 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Decreased proportion of CD4-positi... |
ORPHA:289390 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
| Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
| Toxic Epidermal Necrolysis |
|
Conjunctivitis, Pancreatitis |
ORPHA:537 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Splenomegaly, Increased circulating ferritin concen... |
OMIM:615846 |
| Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
| Melas |
|
Hypoparathyroidism, Hypothyroidism, Recurrent pancreatitis |
ORPHA:550 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Uterine leiomyoma, Hypercalcemia, Testicular neoplasm, Hypophosphatemia |
ORPHA:99880 |
| Bohring-Opitz Syndrome |
|
Recurrent infections, Supernumerary nipple, Hyperechogenic pancreas |
OMIM:605039 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
| Parathyroid Carcinoma |
|
Uterine leiomyoma, Hypercalcemia, Testicular neoplasm, Hypophosphatemia |
ORPHA:143 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Recurrent... |
ORPHA:54595 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
| Lysinuric Protein Intolerance |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:222700 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis |
ORPHA:544482 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Decreased circulating IgA level |
ORPHA:457485 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Scleromyxedema |
|
Paraproteinemia, Elevated circulating creatine kinase concentration |
ORPHA:167635 |
| Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Decreased circulating Ig... |
OMIM:212750 |
| Dubowitz Syndrome |
|
Aplastic anemia, Cryptorchidism, Recurrent infections, Acute lymphoblastic leukemia, Hypocholeste... |
OMIM:223370 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
OMIM:151660 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, L... |
OMIM:227646 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia, Increased circulating prolact... |
ORPHA:2905 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Cryptorchidism, Azoospermia, Hypokalemia, Hypophosphatemia, Hypercho... |
ORPHA:534 |
| Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
| Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Decreased circulating total IgM, Decreas... |
ORPHA:369837 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre... |
ORPHA:90794 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
OMIM:608594 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Decreased circulatin... |
ORPHA:83617 |
| Jacobsen Syndrome |
|
Cryptorchidism, Annular pancreas, Recurrent respiratory infections, Thrombocytopenia |
OMIM:147791 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cryptorchidism, Splenomegaly,... |
ORPHA:116 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Recurrent urinary tract infections, Cholangitis, Portal hyperte... |
ORPHA:731 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
OMIM:269700 |
| Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon |
ORPHA:2720 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
| Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Polycystic liver disease, Pancreatic cysts, Elevated circulat... |
ORPHA:730 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Bone marrow hypocellularity, Annular pancreas, ... |
ORPHA:2308 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hepatic steatosis, Cholecystitis, Chronic pancreatitis |
ORPHA:98908 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Recurrent respiratory infections, Recurrent infections |
ORPHA:97297 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Reduced C-peptide level, Absent gallbladder, Hypoamylasemia, Pancreatic aplasia |
ORPHA:556955 |
| Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
| Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Scorpion Envenomation |
|
Myocarditis, Acute pancreatitis, Hyperhidrosis |
ORPHA:466677 |
| Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Chronic pancreatitis |
OMIM:307030 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:355 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion |
OMIM:618929 |
| Pmm2-Cdg |
|
Elevated circulating growth hormone concentration, Impaired neutrophil chemotaxis, Reduced thyrox... |
ORPHA:79318 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
| Monosomy 18Q |
|
Bilateral cryptorchidism, Secondary growth hormone deficiency, Decreased circulating IgA level |
ORPHA:1600 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Enlarged lacrimal gla... |
OMIM:181000 |
| Trisomy 8P |
|
Cryptorchidism, Annular pancreas, Recurrent upper respiratory tract infections, Aplasia/Hypoplasi... |
ORPHA:264450 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology |
ORPHA:314621 |
| Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Pan... |
ORPHA:564 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnorm... |
ORPHA:93111 |
| Trichinellosis |
|
Increased circulating IgE level, Meningitis |
ORPHA:863 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
| Cysticercosis |
|
Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Myeloid leukemia, Recurrent pneumonia, Hepatoblastoma, Annular pancreas |
ORPHA:798 |
| Distal Deletion 12Q |
|
Unilateral cryptorchidism, Annular pancreas, Biliary atresia, Pituitary adenoma |
ORPHA:96149 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas |
ORPHA:488642 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Supernumerary nipple, Cryptorchidism, Splenomegaly, Increased circulating IgE level... |
ORPHA:373 |
| Feingold Syndrome 1 |
|
Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Annular pancreas |
OMIM:268400 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis |
OMIM:263520 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis |
OMIM:606721 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cryptorchidism, Annular pancreas |
OMIM:616975 |
| Fryns Syndrome |
|
Cryptorchidism, Ectopic pancreatic tissue, Polysplenia |
OMIM:229850 |
| Slc39A8-Cdg |
|
Hypomanganesemia, Abnormal blood zinc concentration |
ORPHA:468699 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy |
ORPHA:2822 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Cryptorchidism, Abnormality of the liver, Annular pancreas, Hepatic st... |
ORPHA:1606 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology |
ORPHA:68 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Annular pancreas |
OMIM:265380 |
| Alström Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h... |
ORPHA:64 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
| Williams Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Abnormality of the dienceph... |
ORPHA:904 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Anemia |
ORPHA:438213 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
| Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:194190 |
| Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
| Norrie Disease |
|
Abnormality of the diencephalon |
ORPHA:649 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Hypokalemia, Uterine rupture, Uterine prolapse |
ORPHA:286 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... |
OMIM:601803 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis |
OMIM:105200 |
| Variant Abeta2M Amyloidosis |
|
Abnormal autonomic nervous system physiology |
ORPHA:314652 |
