| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ... |
OMIM:617006 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... |
OMIM:614372 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... |
ORPHA:54370 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... |
ORPHA:329918 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... |
OMIM:614470 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Proximal muscle weakness in upper limbs, Hyperphosphatemia, Lower ... |
ORPHA:99845 |
| Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Decreased circulating complement C3... |
OMIM:614420 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... |
OMIM:614723 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Reduced circulating complemen... |
ORPHA:567544 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent... |
OMIM:616022 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... |
OMIM:615008 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... |
ORPHA:97362 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... |
OMIM:613953 |
| Immunodeficiency 15B |
|
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Fai... |
OMIM:615592 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antineutrophil antibody positivity, Eosinophilia, Platelet antibody positive, Reduced delayed hyp... |
OMIM:601859 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
| C1Q Deficiency 1 |
|
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... |
OMIM:613652 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Pneumonia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Incre... |
OMIM:209950 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Antiphospholipid antibody positivity, Increased circulating IgA level, Nephrotic syndrome, Autoim... |
OMIM:603909 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Elevated circulating creatine kinase concentration, Lupus anticoagulant, Antinuclear ... |
ORPHA:231111 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... |
OMIM:619281 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... |
OMIM:618048 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu... |
OMIM:613501 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
| Diffuse Alveolar Hemorrhage |
|
Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ... |
ORPHA:90060 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Oliguria, Renal insufficiency, Arrhythmia, Abnormal renal tubule morphology, Weight ... |
ORPHA:188 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... |
OMIM:619220 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... |
OMIM:300310 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ... |
OMIM:613495 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Systemic lupus erythematosus, Renal insufficiency, Membranoproliferative glo... |
OMIM:613779 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... |
OMIM:617609 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449400 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Antinuclear antibody positivity, Arthritis, Elevated circulating C-re... |
OMIM:616414 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:618495 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level |
OMIM:619549 |
| Immunodeficiency 32B |
|
Recurrent infections, Pneumonia, Neutrophilia, Failure to thrive, BCGitis, Impaired oxidative bur... |
OMIM:226990 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu... |
OMIM:616871 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypotension, Oliguria, Decreased circulating ca... |
ORPHA:159 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Intrauterine growth retardation, Bicuspid aortic valve, Atrial septal defect, Short stature, Grow... |
OMIM:617744 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato... |
ORPHA:98813 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Cardiogenic Shock |
|
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... |
ORPHA:97292 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... |
OMIM:612925 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased F... |
OMIM:304790 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612926 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Failure to thrive, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency... |
OMIM:619644 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... |
OMIM:619375 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612924 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia |
ORPHA:419 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... |
OMIM:605258 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
| Heart Defects-Limb Shortening Syndrome |
|
Disproportionate short stature, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh... |
ORPHA:1354 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,... |
OMIM:613494 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... |
ORPHA:169154 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Oliguria, Congestive heart failure, Hypomagnesemia, Renal insuffi... |
ORPHA:31824 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Proteinuria, Hematuria, Membranoproliferative glomerulo... |
OMIM:608709 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
| Complement Component 4A Deficiency |
|
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a... |
OMIM:614380 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... |
OMIM:620565 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
| Autoimmune Hepatitis |
|
Antineutrophil antibody positivity, Inflammation of the large intestine, Increased total bilirubi... |
ORPHA:2137 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... |
OMIM:152700 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I... |
OMIM:619773 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... |
OMIM:620449 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Weight lo... |
ORPHA:49041 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... |
OMIM:614196 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Acquired Partial Lipodystrophy |
|
Autoimmunity, Proteinuria, Glomerulopathy, Lymphocytosis, Decreased circulating complement C3 con... |
ORPHA:79087 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ... |
ORPHA:99867 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ... |
ORPHA:340 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc... |
OMIM:243700 |
| Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Oliguria, Congestive heart failure, Renal ins... |
ORPHA:727 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Telangiectasia of t... |
ORPHA:220393 |
| Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... |
ORPHA:3261 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased... |
ORPHA:449395 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Bacterial endocarditis, Oliguria, Congestive heart failure, Heart murmur |
ORPHA:1054 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arter... |
OMIM:618845 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... |
OMIM:607594 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Autoi... |
ORPHA:275555 |
| Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:572 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... |
ORPHA:275 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... |
ORPHA:2688 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233710 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Secundum atrial septal ... |
OMIM:614868 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Dibasic Amino Aciduria I |
|
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria |
OMIM:222690 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... |
OMIM:616963 |
| Eng-Strom Syndrome |
|
Short stature, Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular s... |
ORPHA:1937 |
| Lysinuric Protein Intolerance |
|
Abnormality of humoral immunity, Hemophagocytosis, Increased LDL cholesterol concentration, Hepat... |
ORPHA:470 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Antinuclear anti... |
OMIM:617388 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... |
OMIM:618982 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... |
ORPHA:319552 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Failu... |
ORPHA:277 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... |
OMIM:617056 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Neut... |
ORPHA:1830 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Thrombocytosis, Skin rash,... |
OMIM:615934 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, ... |
OMIM:613845 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233690 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Short chordae tendineae of th... |
OMIM:314400 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:614131 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Conjunctivitis, Impa... |
OMIM:240500 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Saccharopinuria |
|
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... |
OMIM:268700 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Failure to thrive, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, I... |
OMIM:615816 |
| Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir... |
ORPHA:91139 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... |
ORPHA:276 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... |
OMIM:608184 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Intrauterine growth retardation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pu... |
OMIM:612863 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... |
OMIM:619149 |
| Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... |
OMIM:619437 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... |
OMIM:613860 |
| Hyperprolinemia, Type Ii |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... |
OMIM:239510 |
| Immunodeficiency 18 |
|
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:615573 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... |
OMIM:620085 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Short stature, Patent ductus arteriosus, Pulmoni... |
OMIM:249670 |
| Immunodeficiency 116 |
|
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... |
OMIM:608957 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... |
OMIM:266265 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... |
ORPHA:2494 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Decrea... |
ORPHA:859 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... |
ORPHA:567548 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... |
ORPHA:93126 |
| Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Ar... |
ORPHA:411593 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Antineutrophil antibody positivity, Periodontitis, Aplastic anemia, Lymphopenia, Recur... |
ORPHA:486 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Increased circulating interleukin 6 concentra... |
OMIM:618944 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly... |
OMIM:620632 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract... |
OMIM:620152 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... |
ORPHA:1880 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Immunodeficiency 53 |
|
Recurrent pneumonia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis medi... |
OMIM:617585 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:911 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... |
ORPHA:90280 |
| Renal Tubular Dysgenesis |
|
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis |
OMIM:616201 |
| Lassa Fever |
|
Shock, Oliguria |
ORPHA:99824 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn... |
OMIM:603278 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Granuloma, Failure to thrive, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblains, Int... |
OMIM:619858 |
| Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the g... |
ORPHA:1876 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... |
OMIM:618459 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... |
ORPHA:2847 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bic... |
ORPHA:500159 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Failu... |
OMIM:617872 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... |
OMIM:607624 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
| Sepsis In Premature Infants |
|
Hypotension, Oliguria, Reversible renal failure, Cyanosis, Decreased body weight, Bradycardia, El... |
ORPHA:90051 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos... |
OMIM:616730 |
| Stiff Skin Syndrome |
|
Short stature, Bicuspid aortic valve |
OMIM:184900 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... |
OMIM:615009 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... |
OMIM:193670 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm... |
ORPHA:83471 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia, Increased circulating antibody level |
OMIM:162700 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Umbilical hernia, Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic val... |
OMIM:617751 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre... |
OMIM:612783 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent skin infections, Autoimmune thromb... |
OMIM:301082 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... |
OMIM:143880 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k... |
ORPHA:656 |
| Sonoda Syndrome |
|
Short stature, Ventricular septal defect |
OMIM:270460 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Idiopathic Pulmonary Hemosiderosis |
|
Antineutrophil antibody positivity, Failure to thrive, Hepatosplenomegaly, Antinuclear antibody p... |
ORPHA:99931 |
| Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... |
ORPHA:555874 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Failure to thrive |
ORPHA:2278 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos... |
ORPHA:331206 |
| Camptodactyly 1 |
|
Increased urinary taurine, Camptodactyly of finger |
OMIM:114200 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... |
ORPHA:1120 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Meningitis,... |
OMIM:308230 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:300049 |
| Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine, Camptodactyly of toe, Camptodactyly of finger |
ORPHA:1325 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... |
OMIM:135580 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... |
OMIM:615285 |
| Insulin-Resistance Syndrome Type B |
|
Systemic lupus erythematosus, Decreased body weight, Increased body weight, Increased circulating... |
ORPHA:2298 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
OMIM:242600 |
| Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Patent ductus arteriosus, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
| Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Acute kidney injury, Abnormality of comp... |
ORPHA:2134 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... |
OMIM:616873 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... |
OMIM:308240 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... |
OMIM:618935 |
| Postinfectious Vasculitis |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... |
ORPHA:48435 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat... |
OMIM:309930 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased c... |
OMIM:607271 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Decreased ci... |
OMIM:300988 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Jansen-De Vries Syndrome |
|
Short stature, Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial ... |
ORPHA:329224 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Acute kidney injury, Reduced left ventricular ejection fraction, Elevated circulatin... |
ORPHA:542323 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... |
OMIM:300400 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... |
ORPHA:54057 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:619468 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Failure to thrive, Renal tubular dysfunction |
OMIM:606528 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop... |
OMIM:235400 |
| Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... |
OMIM:212093 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... |
ORPHA:100024 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs... |
OMIM:619374 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,... |
OMIM:162000 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c... |
OMIM:613913 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:306400 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Oliguria, Shock, Renal insufficiency, Elevated circulating C-reactive protein concen... |
ORPHA:319213 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... |
ORPHA:1209 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Valinemia |
|
Hypervalinemia, Failure to thrive, Valinuria |
OMIM:277100 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... |
OMIM:618349 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... |
OMIM:619924 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... |
OMIM:617514 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Disproportionate short stature, Mitral valve ... |
ORPHA:2868 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to thrive |
OMIM:230350 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... |
OMIM:104200 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Arthritis |
OMIM:216950 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:614376 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Umbilical hernia, Cardiomegaly, Bicuspid aortic valve, ... |
OMIM:239850 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to t... |
OMIM:613179 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... |
ORPHA:84090 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Conjugate... |
OMIM:620010 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
| White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Aortic dissection... |
ORPHA:229 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt... |
ORPHA:169079 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ... |
OMIM:245900 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Congenital defect of the pericardium, Umbilical hernia, Abnormal heart mor... |
ORPHA:1686 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... |
OMIM:300636 |
| Relapsing Fever |
|
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... |
ORPHA:91547 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Panhypo... |
OMIM:601495 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Microangiopathic hemolytic anemia, Elevated circulating creatinine con... |
OMIM:274150 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Absent circu... |
OMIM:619693 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczematoid dermatitis, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia, Recurrent bacterial i... |
OMIM:300299 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, R... |
OMIM:301110 |
| Immunodeficiency 108 With Autoinflammation |
|
Epistaxis, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neu... |
OMIM:260570 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Failure to thrive, Recurrent otitis media, Autoimmunity, Decreased circulating antibod... |
ORPHA:397596 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:610725 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Fail... |
OMIM:615767 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Short stature, Atrial septal defect |
OMIM:619721 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoprolifera... |
ORPHA:251004 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Acute kidney injury, Sinus tachycardia, Oliguria, Abnormal ... |
ORPHA:466650 |
| Glomerulopathy With Fibronectin Deposits 2 |
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