| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Autoimmunity, Microscopic hematuria, ... |
ORPHA:567544 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Disseminated cryptosporidium infe... |
OMIM:614372 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... |
ORPHA:329918 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... |
ORPHA:99845 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... |
OMIM:614420 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage 5 chronic kid... |
OMIM:613496 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... |
OMIM:615559 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... |
OMIM:613652 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... |
OMIM:209950 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... |
ORPHA:231111 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin... |
OMIM:619632 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Preeclampsia |
|
Increased body mass index, Small for gestational age, Autoimmunity, Proteinuria, Abnormality of t... |
ORPHA:275555 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... |
OMIM:613779 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, A... |
ORPHA:188 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... |
ORPHA:449400 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic inters... |
OMIM:618495 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... |
OMIM:226990 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret... |
OMIM:617744 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Cyanosis, Elevated creatine kinase after exercise, Elevated circulating ac... |
ORPHA:159 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... |
OMIM:616871 |
| Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti... |
ORPHA:90060 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Autoimmunity, Eczema, Abnormal immunoglobulin level, Increased T cell count, I... |
ORPHA:98813 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... |
OMIM:616414 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophi... |
OMIM:619644 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, A... |
OMIM:619375 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... |
OMIM:304790 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Oliguria, ... |
ORPHA:31824 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport... |
ORPHA:1354 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease... |
ORPHA:169154 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve |
ORPHA:228190 |
| Complement Component 4A Deficiency |
|
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme... |
OMIM:614380 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... |
OMIM:619773 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... |
OMIM:608709 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
| Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... |
ORPHA:2137 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Rec... |
ORPHA:275 |
| Thymoma |
|
Myositis, Aplastic anemia, Autoimmunity, Glomerulonephritis, Abnormal lymphocyte proliferation, A... |
ORPHA:99867 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, E... |
OMIM:243700 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... |
ORPHA:727 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym... |
ORPHA:79087 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Hypoplastic left heart, Bicuspid aortic valve, Double outlet right vent... |
OMIM:618845 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... |
ORPHA:93126 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O... |
ORPHA:220393 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:604381 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... |
ORPHA:443811 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233710 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Secundum atri... |
OMIM:614868 |
| Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, S... |
ORPHA:1937 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... |
ORPHA:37042 |
| Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxida... |
ORPHA:277 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233690 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Rheumatoid factor... |
ORPHA:91139 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... |
ORPHA:1830 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin ras... |
OMIM:615934 |
| Hyper-Beta-Alaninemia |
|
Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia |
OMIM:237400 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurr... |
OMIM:240500 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... |
OMIM:612863 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... |
OMIM:615816 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Short stature, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep... |
OMIM:249670 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
| 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 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239510 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Saccharopinuria |
|
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy... |
OMIM:268700 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... |
ORPHA:859 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut... |
ORPHA:486 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Weight loss, Systemic lupus e... |
ORPHA:411593 |
| Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,... |
ORPHA:2847 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
| Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis |
OMIM:616201 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... |
OMIM:618459 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
| Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concent... |
ORPHA:90051 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... |
ORPHA:90280 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve, Short stature |
OMIM:184900 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... |
OMIM:619858 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:617872 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... |
OMIM:301082 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Lassa Fever |
|
Shock, Oliguria |
ORPHA:99824 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Umbilical hernia, Int... |
OMIM:617751 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Failure to thrive, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary... |
OMIM:613179 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
| Sonoda Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:270460 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:300049 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Failure to thrive |
ORPHA:2278 |
| Camptodactyly 1 |
|
Increased urinary taurine, Camptodactyly of finger |
OMIM:114200 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
| Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
| Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger |
ORPHA:1325 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, Increased circu... |
OMIM:615285 |
| Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
| Idiopathic Pulmonary Hemosiderosis |
|
Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Autoimmune antib... |
ORPHA:99931 |
| Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystro... |
OMIM:309930 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... |
ORPHA:2134 |
| Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin... |
ORPHA:48435 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Hypoxemi... |
ORPHA:542323 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature |
OMIM:617450 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Increased body weight, Increased circulating IgG level, Leukopenia, Hypoalbuminem... |
ORPHA:2298 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... |
OMIM:300400 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria |
OMIM:606528 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Immunodeficiency 50 |
|
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Neutropenia, Ly... |
OMIM:300988 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Decreased circulating complement factor B concentration, Hemolytic-uremi... |
OMIM:235400 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Increased circulating ... |
ORPHA:100024 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
| Inclusion Body Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Elevated circulating C-reactive protein ... |
OMIM:613011 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... |
ORPHA:2041 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... |
OMIM:613913 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... |
OMIM:614455 |
| Valinemia |
|
Hypervalinemia, Valinuria, Failure to thrive |
OMIM:277100 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
| Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... |
ORPHA:319213 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Galactosemia Iii |
|
Failure to thrive, Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Disproportionate short stature, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve ... |
ORPHA:2868 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:306400 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
| Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis |
OMIM:216950 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
| Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... |
ORPHA:1304 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Short stature |
OMIM:619318 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat... |
OMIM:274150 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... |
OMIM:619693 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia, Coarctation of aorta, Hypertension... |
OMIM:616069 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
| Activated Pi3K-Delta Syndrome |
|
Autoimmunity, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr... |
ORPHA:397596 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... |
ORPHA:251004 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve, Short stature |
OMIM:619721 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcer... |
OMIM:618394 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Immunodeficiency 108 With Autoinflammation |
|
Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Recurrent absces... |
OMIM:260570 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Rha... |
ORPHA:466650 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
| Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Short stature |
OMIM:618027 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration... |
OMIM:620010 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ... |
OMIM:616276 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... |
OMIM:619707 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, Cheilitis, Recu... |
OMIM:615468 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... |
OMIM:616005 |
| Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Short stature |
OMIM:619641 |
| Sneddon Syndrome |
|
Bicuspid aortic valve |
OMIM:182410 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Small for gestational age, Abnormal T cell morphology, Nephrotic syndrome, Mucopolys... |
OMIM:215250 |
| Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypocalcemia, Acute kidn... |
ORPHA:544482 |
| Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia |
ORPHA:375 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ... |
OMIM:618987 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
| 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 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Short stature |
ORPHA:2515 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Autoimmunity, Megaloblastic anemia, Anem... |
OMIM:617780 |
| Baraitser-Winter Syndrome 1 |
|
Short stature, Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Aor... |
OMIM:243310 |
| Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| 5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... |
ORPHA:477817 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... |
OMIM:606367 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased proportion of class-s... |
OMIM:615767 |
| Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... |
ORPHA:173 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy... |
ORPHA:31826 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:1388 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... |
OMIM:615513 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu... |
OMIM:617575 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita... |
ORPHA:2260 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... |
ORPHA:93552 |
| Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... |
OMIM:256300 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Abnorm... |
OMIM:616733 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Mitral valve prolapse, Pulmon... |
OMIM:609942 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Telangiectasia of the skin, Abnormality of neutr... |
ORPHA:542592 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Feingold Syndrome 2 |
|
Postnatal growth retardation, Ventricular septal defect, Short stature |
OMIM:614326 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect, Short stature |
ORPHA:391646 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced... |
OMIM:614699 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... |
ORPHA:536 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Abnormal cardiac v... |
ORPHA:2306 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano... |
ORPHA:1457 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ... |
ORPHA:2902 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse |
ORPHA:555877 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss |
ORPHA:79238 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Boutonneuse Fever |
|
Renal insufficiency, Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increas... |
ORPHA:83313 |
| Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b... |
OMIM:618347 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
| Cystic Echinococcosis |
|
Abscess, Eosinophilia, Renal cyst, Weight loss, Membranous nephropathy, Increased circulating ant... |
ORPHA:400 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Muscular dystrophy |
OMIM:204730 |
| Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... |
OMIM:233450 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re... |
OMIM:610984 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th... |
OMIM:619155 |
| Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... |
OMIM:214500 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Renal insufficiency, Decrea... |
ORPHA:85450 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... |
ORPHA:371428 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Squalene Synthase Deficiency |
|
Intrauterine growth retardation, Bicuspid aortic valve |
OMIM:618156 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... |
OMIM:617241 |
| Immunodeficiency 22 |
|
Failure to thrive, Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Decreased circulating t... |
OMIM:615758 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, B lymphocytopenia, Bone marrow hypocellul... |
OMIM:301078 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circul... |
OMIM:614034 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutro... |
OMIM:612541 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
| Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... |
OMIM:208060 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ... |
OMIM:619189 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Short stature |
ORPHA:401923 |
| Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
| Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ... |
OMIM:618999 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
| Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythrode... |
ORPHA:169160 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect, Mitral st... |
ORPHA:2248 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple... |
OMIM:603554 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:618330 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect, Growth delay, Short stature |
ORPHA:52056 |
| Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
| Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test |
OMIM:229100 |
| Polyvalvular Heart Disease Syndrome |
|
Short stature, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis, Aortic ... |
ORPHA:228410 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr... |
OMIM:123550 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria |
ORPHA:225 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Recurrent urinary tract infections, Renal insufficienc... |
ORPHA:731 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Galactosemia I |
|
Hemolytic anemia, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosur... |
OMIM:230400 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Failure to thrive in infancy, Eczema, Oligoarthritis, Decreased circulating total Ig... |
OMIM:619510 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... |
OMIM:611878 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... |
ORPHA:90038 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis |
OMIM:618499 |
| Aortic Valve Disease 2 |
|
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:614823 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Autoimmunity, Increased circulating IgG4 level, Cholangitis, Abnormality of ... |
ORPHA:449432 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Small for gestational age, Functional abnormality of the bladder |
OMIM:300076 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Down Syndrome |
|
Ventricular septal defect, Short stature, Complete atrioventricular canal defect, Patent ductus a... |
OMIM:190685 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... |
OMIM:600001 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve... |
ORPHA:1724 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Bicuspid aortic valve |
OMIM:619825 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... |
ORPHA:169090 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosu... |
OMIM:265380 |
| Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio... |
ORPHA:90291 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia... |
ORPHA:760 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia |
ORPHA:2668 |
| Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
| Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Sarcosinemia |
|
Peroneal muscle weakness, Hypersarcosinemia, Pulmonic stenosis, Hypersarcosinuria, Hypertrophic c... |
ORPHA:3129 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Weight loss, Leukop... |
ORPHA:507 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Cardiac Valvular Dysplasia 2 |
|
Dysplastic aortic valve, Bicuspid aortic valve, Pulmonic stenosis, Subvalvular aortic stenosis |
OMIM:620067 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... |
OMIM:609560 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Acute kid... |
OMIM:618886 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Short stature |
OMIM:614900 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... |
ORPHA:98850 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mas... |
ORPHA:98848 |
| Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
| Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:619720 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopeni... |
ORPHA:447 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Mitral valve prolapse |
ORPHA:2233 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Ventric... |
OMIM:620210 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... |
ORPHA:91500 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Auto... |
ORPHA:436159 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Prolidase Deficiency |
|
Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting ery... |
OMIM:170100 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Failure to thrive |
OMIM:179010 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Mening... |
OMIM:130720 |
| Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Pulmon... |
OMIM:610443 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia |
OMIM:238750 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Ventricular septal defect, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tu... |
OMIM:613404 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
| X Small Rings |
|
Growth delay, Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Mitral valve prolapse |
ORPHA:2183 |
| Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Rhabdomyolysis, Ventric... |
OMIM:263800 |
| Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short stature |
OMIM:113301 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
ORPHA:2255 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
| Idiopathic Bronchiectasis |
|
Myocardial infarction, Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acu... |
ORPHA:60033 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hyp... |
OMIM:603903 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Increased circulating ferritin concentration, S... |
OMIM:618398 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis, Vascular dilatation |
OMIM:137280 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Pulmon... |
OMIM:610759 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h... |
OMIM:616299 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia, Increased ... |
OMIM:617303 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Thrombo... |
ORPHA:47 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Small for gestational age, Proteinuria, Abnormal immunoglobuli... |
OMIM:242900 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Megacystis, Polyuria |
OMIM:304800 |
| Reynolds Syndrome |
|
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal refl... |
ORPHA:779 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... |
OMIM:619752 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, Atrial septal defect, Tetralog... |
OMIM:612946 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Rhinitis,... |
ORPHA:230 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Increased circu... |
ORPHA:69126 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
| Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss |
ORPHA:160148 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Short stature, Double outlet right ventricle with doubly c... |
ORPHA:1596 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial n... |
ORPHA:488627 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ... |
OMIM:217095 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
| Mitral Valve Prolapse 1 |
|
Mitral valve prolapse |
OMIM:157700 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... |
ORPHA:453499 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Myopathy, Amino... |
ORPHA:213 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... |
OMIM:263400 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Growth delay, ... |
OMIM:179613 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, M... |
ORPHA:411634 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreas... |
OMIM:603585 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Aminoaciduria |
ORPHA:33574 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnorm... |
ORPHA:84064 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt... |
ORPHA:90036 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Failure to thrive, Proteinuria, Abnormality of the kidney |
ORPHA:369 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunction, Aminoacidur... |
ORPHA:436271 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defec... |
OMIM:618142 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Mitral valve prolapse, Atrial sep... |
OMIM:245600 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Cardiofaciocutaneous Syndrome 3 |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... |
OMIM:615279 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... |
OMIM:617099 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Optic Atrophy 8 |
|
Mitral valve prolapse |
OMIM:616648 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short stature, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... |
ORPHA:1913 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... |
OMIM:154230 |
| Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Short stature |
ORPHA:96169 |
| Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Mitral valve prolapse |
OMIM:614816 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circ... |
OMIM:619774 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arterios... |
OMIM:601005 |
| Analbuminemia |
|
Patent ductus arteriosus, Recurrent lower respiratory tract infections, Hypotension |
OMIM:616000 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Short stature, Valvular pulmonary stenosis, Atrial septal defect, Intraute... |
OMIM:300707 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... |
OMIM:615577 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Abnormal heart valve morphology, Pericardial effusion, Spl... |
ORPHA:36412 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Intraut... |
ORPHA:290 |
| Majeed Syndrome |
|
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscop... |
ORPHA:77297 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... |
OMIM:607426 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... |
OMIM:615207 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria... |
OMIM:604273 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Necrotizing Enterocolitis |
|
Shock, Neonatal sepsis, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morp... |
ORPHA:391673 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Abnormality of the kidney, Polycythemia |
ORPHA:284227 |
| Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb... |
OMIM:608104 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Leukocytosis, Menin... |
ORPHA:292 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... |
OMIM:300908 |
| Q Fever |
|
Rheumatoid factor positive, Cholecystitis, Lupus anticoagulant, Infectious encephalitis, Maculopa... |
ORPHA:781 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| 16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Abnormal tricuspid valve morphology, Abnor... |
ORPHA:485405 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Proteinuria, Large for gestational age, Nephrocalcinosis, Glycos... |
OMIM:616026 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... |
OMIM:617718 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
| Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Disproportion... |
ORPHA:2772 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep... |
OMIM:615355 |
| Amyloidosis, Familial Visceral |
|
Proteinuria, Skin rash, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Elevated circulating ... |
ORPHA:90003 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Short stature |
OMIM:300887 |
| Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... |
ORPHA:99829 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Failure... |
ORPHA:90321 |
| Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... |
OMIM:614096 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... |
OMIM:601678 |
| 3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Short stature, Postnatal growth reta... |
ORPHA:7 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypokalemia, Hypocalciuria, Increased circu... |
OMIM:612780 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Vasculitis, Sepsis, Hypotension, Pancreatitis |
ORPHA:70578 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Short stature |
OMIM:618529 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticuloc... |
OMIM:275350 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
| Tyshchenko Syndrome |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Intrauterine g... |
OMIM:615102 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Asplenia... |
ORPHA:244 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Pneumonia, Abnormality... |
ORPHA:229717 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Short stature, Abnormal heart morphology |
ORPHA:352490 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... |
OMIM:614069 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
| Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... |
ORPHA:64744 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:49827 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder |
ORPHA:2571 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, Atrial septal d... |
OMIM:249270 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia, Methylmalo... |
ORPHA:1933 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Coffin-Siris Syndrome 5 |
|
Atrial septal defect, Intrauterine growth retardation, Short stature |
OMIM:616938 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Kleefstra Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve, Short stature |
ORPHA:261494 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Weight loss, Decreased circulating total IgM, ... |
ORPHA:90362 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:90308 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
| Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Autoimmunity, Sinusitis, Increased in... |
ORPHA:183 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Obesi... |
OMIM:615994 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Mitral valve prolapse, Umbilical ... |
OMIM:611962 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Growth delay, Short stature |
OMIM:620211 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Short stature |
OMIM:615502 |
| Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis, Hypotension |
ORPHA:99825 |
| Dental Anomalies And Short Stature |
|
Short stature, Mitral valve prolapse |
OMIM:601216 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449427 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Chronic kidney disease, Neutropenia, Hyperammonemia, Iron defi... |
ORPHA:1667 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Ventricular septal defect, Small for gestational age, Conjugated hyperbilir... |
OMIM:208085 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria |
OMIM:560000 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic... |
OMIM:100300 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Chilblain... |
OMIM:619487 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Eczema, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Congestive heart failur... |
OMIM:615895 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kid... |
ORPHA:57 |
| Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Splenomegaly, Hepatiti... |
ORPHA:549 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper... |
ORPHA:713 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Ascending aortic dissection, High palate, Aortic t... |
OMIM:616166 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Umbilical hernia, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentrati... |
ORPHA:247691 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Short stature, Muscular ventricular septal defect, Dysplastic tricuspi... |
OMIM:157800 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... |
ORPHA:98849 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... |
ORPHA:85443 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity |
ORPHA:98827 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arthritis, Anemia |
ORPHA:37748 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
| Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Pancytopenia, Proteinuria, Autoimmunity, Pneumonia, Autoimmune throm... |
ORPHA:1855 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Mass Syndrome |
|
Mitral valve prolapse |
OMIM:604308 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Small for gestational age, Proteinuria, Unilateral renal age... |
ORPHA:93101 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti... |
OMIM:618523 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Camurati-Engelmann Disease, Type 2 |
|
Delayed puberty, Mitral valve prolapse |
OMIM:606631 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclero... |
OMIM:232220 |
| Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... |
OMIM:605850 |
| Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Conjunctiv... |
ORPHA:3392 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Umbilical hernia, Tricuspid valve prolapse |
ORPHA:1101 |
| Glycogen Storage Disease Ia |
|
Decreased muscle mass, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeruloscl... |
OMIM:232200 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Sepsis, Bradycardia, Hypotension |
ORPHA:70587 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia... |
ORPHA:293978 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria, Megaloblastic anemia |
OMIM:261100 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno... |
ORPHA:466791 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Anemia |
ORPHA:1192 |
| Geleophysic Dysplasia 2 |
|
Short stature, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis |
OMIM:614185 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... |
OMIM:615952 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... |
OMIM:619702 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... |
OMIM:618780 |
| Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ... |
OMIM:608233 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale |
ORPHA:89844 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:261337 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Obesity, Hypotension |
ORPHA:369873 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
| Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Failure to thrive, Aminoaciduria, Tetralogy of Fallot |
OMIM:250620 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Frontal encephalocele |
ORPHA:521308 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Postnatal growth retardation, Ventricular septal defect, Short stature |
ORPHA:3369 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Postnatal growth retardation, Dilated cardiomyopathy, Atrial septal... |
OMIM:610198 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis |
OMIM:217085 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ... |
ORPHA:2035 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse |
ORPHA:284979 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Increased circulating IgE level, ... |
OMIM:618282 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Recurrent respiratory infections, Failure to thrive, Hypotension |
OMIM:264350 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de... |
OMIM:617660 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Autoimmunity, Elevated circu... |
ORPHA:900 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
| Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, Short stature |
ORPHA:1035 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
| Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric... |
OMIM:619909 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... |
ORPHA:811 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
| Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Aortic valve calcification, Abnormal left ventricular outflow tract morpho... |
ORPHA:402075 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ... |
OMIM:619147 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Short stature |
ORPHA:261295 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
| Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Meningitis, Hypotension, Infectious encep... |
ORPHA:83317 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ... |
ORPHA:221139 |
| Vici Syndrome |
|
Lymphopenia, Atrial septal defect, Recurrent respiratory infections, Left ventricular hypertrophy... |
OMIM:242840 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly elevated... |
OMIM:251900 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Short stature |
ORPHA:93946 |
| Turnpenny-Fry Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ... |
OMIM:618371 |
| Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Atrial septal ... |
OMIM:615668 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... |
ORPHA:449563 |
| Filippi Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect |
OMIM:272440 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... |
ORPHA:449285 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic ... |
OMIM:615387 |
| Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Patent ductus arteriosus, Partial anomal... |
ORPHA:185 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Patent ductus arteriosus, Sepsis, Anemia, Leukopenia, Intracr... |
OMIM:617053 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Spina bifida, Tetralogy of Fallo... |
ORPHA:508498 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
| Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Intrauterine growth r... |
ORPHA:60041 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... |
OMIM:615607 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Mitral valve prolapse,... |
OMIM:609192 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Short stature |
OMIM:314320 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Pneumonia, Leukocytosis, Severe infection, Sepsis, Acute infectious pneumoni... |
ORPHA:36238 |
| Melnick-Needles Syndrome |
|
Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
| Overlap Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration, Abnormality of the kidney, Anti... |
ORPHA:206572 |
| Transketolase Deficiency |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:488618 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Hematur... |
ORPHA:77259 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Cardiospondylocarpofacial Syndrome |
|
Severe short stature, Mitral valve prolapse |
ORPHA:3238 |
| Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy |
ORPHA:101028 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of complement sy... |
ORPHA:79086 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
| Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve |
OMIM:602531 |
| Frontometaphyseal Dysplasia 2 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Delayed puberty, Patent foram... |
OMIM:617137 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Disproportionate... |
ORPHA:2655 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Increased ... |
OMIM:256550 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
| Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Leukopenia,... |
ORPHA:99828 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity, Cardiomegaly |
ORPHA:88643 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta, Mitral valve prolapse |
ORPHA:230839 |
| Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Short stature |
ORPHA:921 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature |
ORPHA:75389 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout,... |
OMIM:232240 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Recurrent viral infections, Sepsis, Atrial septal defect, Atrioventricular ca... |
OMIM:619573 |
| Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
| Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse |
OMIM:225320 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proxi... |
OMIM:212065 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... |
ORPHA:284426 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Hypoplast... |
ORPHA:392 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea... |
ORPHA:54251 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Patent ductus arteriosus, Severe short-limb dwarfism, Atrial septal defect, Hypertrop... |
ORPHA:1842 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
| Felty Syndrome |
|
Episcleritis, Recurrent urinary tract infections, Sinusitis, Pericarditis, Autoimmunity, Thromboc... |
ORPHA:47612 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... |
OMIM:618316 |
| Feingold Syndrome Type 1 |
|
Short stature, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal... |
ORPHA:391641 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating ... |
OMIM:602450 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, In... |
ORPHA:505248 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect, Intraut... |
OMIM:611134 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Failu... |
OMIM:269920 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypopla... |
OMIM:601186 |
| Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:245552 |
| Omenn Syndrome |
|
Pneumonia, Autoimmunity, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Nephrotic syndrom... |
ORPHA:39041 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase... |
OMIM:610377 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
| Netherton Syndrome |
|
Decreased circulating IgG level, Recurrent skin infections, Eczema, Allergic rhinitis, Increased ... |
OMIM:256500 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:616867 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Short stature |
ORPHA:1166 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Autoimmunity, Increased circulating free fatty acid l... |
ORPHA:293964 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Decreas... |
OMIM:300972 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, A... |
OMIM:264480 |
| Even-Plus Syndrome |
|
Atrial septal defect, Severe short stature, Patent foramen ovale |
OMIM:616854 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Postnatal growth retardation... |
OMIM:613355 |
| Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Tricuspid valve prolapse |
ORPHA:2396 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypoplastic left heart, Total... |
OMIM:115470 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Postnatal growth retardation, Large placenta, Abnormal heart morpholog... |
ORPHA:254534 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Cachexi... |
ORPHA:3452 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Tetrasomy 15Q26 |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus |
OMIM:614846 |
| Fragile X Syndrome |
|
Mitral valve prolapse |
ORPHA:908 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Thrombocytopenia, Splenomegaly... |
OMIM:617591 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... |
OMIM:613070 |
| Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
| Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Increased ... |
ORPHA:297 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
| Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Encephalocele, Patent ductus arteriosus, Short stature |
ORPHA:93274 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Intrauterine growth retardation |
OMIM:614815 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:601927 |
| Diamond-Blackfan Anemia 4 |
|
Atrial septal defect, Growth delay, Short stature |
OMIM:612527 |
| Rift Valley Fever |
|
Skin rash, Thrombocytopenia, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, Incr... |
ORPHA:319251 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur... |
OMIM:255125 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Growth delay, Branch... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Growth delay, Branch... |
ORPHA:352665 |
| Frank-Ter Haar Syndrome |
|
Umbilical hernia, Mitral valve prolapse |
ORPHA:137834 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Hematochezia, Hypoalbuminemia... |
OMIM:618183 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail... |
ORPHA:100078 |
| Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth re... |
OMIM:606003 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Inflammation of the large intestine, Failure to thrive, Gastritis |
OMIM:618108 |
| Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Arrhythmia |
OMIM:273400 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Patent foramen o... |
OMIM:620327 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating creatinine concentration, Bronchiectasis, Elevated circu... |
ORPHA:79126 |
| Classic Multiminicore Myopathy |
|
Mitral valve prolapse, Short stature, Right ventricular hypertrophy |
ORPHA:324604 |
| Noonan Syndrome 10 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Mitral valve prolapse, Hypert... |
OMIM:616564 |
| White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
| Free Sialic Acid Storage Disease |
|
Splenomegaly, Nephrotic syndrome, Failure to thrive in infancy, Proteinuria |
ORPHA:834 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Failure... |
OMIM:242860 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Bicuspid aortic valve |
OMIM:617168 |
| Alkaptonuria |
|
Mitral valve calcification, Aortic valve calcification, Elevated urinary homogentisic acid, Nephr... |
OMIM:203500 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim... |
ORPHA:227990 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... |
ORPHA:263455 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
| Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Myo... |
ORPHA:829 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
| Meningococcal Meningitis |
|
Shock, Skin rash, Sepsis, Stroke, Hypotension, Infectious encephalitis |
ORPHA:33475 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ... |
ORPHA:3093 |
| Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Skin rash... |
ORPHA:228123 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse |
OMIM:609008 |
| Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve, Short stature, Delayed puberty |
OMIM:176690 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Mildly elevated creatine kinase |
ORPHA:171442 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Short stature, Atrial septal defect, Patent foramen ovale, Right ventr... |
OMIM:614261 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Dilated cardiomyopathy, Mitral valve prolapse, Growth delay, Abnormal cardi... |
ORPHA:2556 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... |
OMIM:301074 |
| Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale, Short stature |
OMIM:610883 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Atrial septal defect, Umbilical hernia, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:601776 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Short stature, Patent ductus arteriosus, Partial anomalo... |
OMIM:619657 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ... |
OMIM:618885 |
| Double Outlet Right Ventricle |
|
Tachycardia, Failure to thrive, Intestinal malrotation, Submucous cleft hard palate, Double outle... |
ORPHA:3426 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Postnatal growth retardation, Aortic valve stenosis, Bicuspid aortic valve, Short stature |
OMIM:613563 |
| Pneumocystosis |
|
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... |
ORPHA:723 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Short stature, Postnatal growth retardat... |
OMIM:616651 |
| Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
| Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh... |
ORPHA:139402 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Abnormal he... |
OMIM:612289 |
| Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Postnatal growth reta... |
OMIM:214800 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... |
ORPHA:100080 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
OMIM:608572 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... |
ORPHA:90035 |
| Emanuel Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... |
OMIM:609029 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Short stature, Secundum atrial septal defect, Perimembranous ventricul... |
OMIM:600987 |
| Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Ebstein anomaly of the tricuspid valve, Patent foramen ovale |
ORPHA:506358 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Circulating immune complexes, ... |
ORPHA:91138 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Autoimmunity, Autoimmune antibody positivity, Chronic mucocutaneous cand... |
ORPHA:36913 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ... |
OMIM:618870 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Neutrophilia, Proteinuria, Elevated circulating creatine kinase concentration... |
ORPHA:99827 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Methimazole Embryofetopathy |
|
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta |
ORPHA:1923 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnorm... |
ORPHA:353281 |
| Wilson Disease |
|
Hemolytic anemia, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypourice... |
OMIM:277900 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, Methylmalonic ... |
OMIM:251110 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:261190 |
| Desbuquois Syndrome |
|
Severe short stature, Ventricular septal defect, Disproportionate short-limb short stature |
ORPHA:1425 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Patent foramen ovale, Short stature |
ORPHA:88630 |
| Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim... |
ORPHA:227982 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:617635 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Small for gestational age, Elevated circulating ... |
OMIM:612073 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Short stature, Mitral valve prolapse |
OMIM:247410 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis... |
ORPHA:79259 |
| Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth retar... |
OMIM:615583 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature |
OMIM:617452 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Abn... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Abn... |
ORPHA:363958 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
| Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Atrial septal defect, Intrauterine growth retardation... |
ORPHA:2008 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Abnormal pulmonary valve cusp morphology, Right... |
ORPHA:97287 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... |
ORPHA:2001 |
| Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Short stature |
OMIM:617808 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... |
OMIM:619377 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Severe short stature, Bicuspid aortic valve |
OMIM:271640 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Abnormal mitral valve morphology, Short stature, Atrial septal defect, Umbilical hernia, Intraute... |
ORPHA:1292 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Elevated circulating ... |
OMIM:208900 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Patent ductus arteriosus, Growth delay, Atrial septal defect, Intraute... |
OMIM:614576 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:218350 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Patent foramen ovale |
OMIM:618821 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
| Marfan Syndrome |
|
Mitral valve prolapse, Bicuspid aortic valve, Tricuspid valve prolapse, Mitral annular calcification |
OMIM:154700 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc... |
ORPHA:90363 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th... |
OMIM:251100 |
| Prune Belly Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2970 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Ventricular septal defect |
ORPHA:93267 |
| Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis |
OMIM:611553 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
OMIM:618494 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Short stature, Abnormal pulmonary valve morphology, Spina bifida... |
ORPHA:500 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Cardiomyopat... |
OMIM:605275 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Serkal Syndrome |
|
Growth delay, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Ventricular septal defect |
OMIM:619908 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Patent ductus arteriosus, Growth delay |
OMIM:614857 |
| Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect |
OMIM:618354 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
| Insulin-Like Growth Factor I, Resistance To |
|
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Atrial septal defec... |
OMIM:270450 |
| Noonan Syndrome 9 |
|
Short stature, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
| Trisomy 13 |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... |
ORPHA:3378 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral valve prolapse |
OMIM:173900 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... |
ORPHA:99147 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Increased circulat... |
ORPHA:330015 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy... |
OMIM:614702 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hypertrophic cardiomyopath... |
OMIM:612938 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
| Al Kaissi Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Postnatal growth retardation, Short stature |
OMIM:617694 |
| Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnorm... |
ORPHA:438213 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... |
OMIM:609053 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Short stature, Mitral valve prolapse |
OMIM:300986 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... |
ORPHA:100082 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature |
ORPHA:505237 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Muscular ventricular septal defect, Abnormal heart morphology, Perimemb... |
ORPHA:363444 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... |
ORPHA:79408 |
| Kapur-Toriello Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... |
OMIM:244300 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d... |
ORPHA:457193 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat... |
OMIM:201475 |
| Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod... |
ORPHA:634 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Mitral valve prolapse,... |
OMIM:610168 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Recurrent ear infections, Cardiomegaly, Cardiom... |
OMIM:300280 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature |
OMIM:609654 |
| Costello Syndrome |
|
Short stature, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ... |
ORPHA:3071 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... |
OMIM:617478 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Rhizomelic arm shortening |
ORPHA:96190 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Anemia, Thrombocytopenia |
ORPHA:858 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
| Noonan Syndrome 7 |
|
Short stature, Growth delay, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:613706 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Umbilical hernia, Bicuspid aortic valve, Dextrocardia, Short stature |
ORPHA:536545 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Aminoaciduria, Ketonuria, Large for gestational age |
OMIM:614520 |
| Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615879 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Short stature, Patent ductus arteriosu... |
OMIM:601808 |
| Boudin-Mortier Syndrome |
|
Mitral valve prolapse |
OMIM:619543 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... |
ORPHA:1018 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Short stature, Mitral valve prolapse |
ORPHA:1563 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... |
OMIM:253250 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ... |
OMIM:212138 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Short s... |
OMIM:620070 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
| Geleophysic Dysplasia 1 |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Short stature |
OMIM:231050 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
| Filippi Syndrome |
|
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth... |
ORPHA:3255 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinur... |
OMIM:611881 |
| Warsaw Breakage Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular s... |
OMIM:613398 |
| Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Mitral valve prolapse |
ORPHA:2712 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Growth delay,... |
OMIM:612562 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:610205 |
| Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In... |
ORPHA:86816 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr... |
OMIM:612582 |
| Emanuel Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Growth delay, Aortic valve stenosis, Pulmoni... |
ORPHA:96170 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Inhalational Anthrax |
|
Sepsis, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Kagami-Ogata Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:608149 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Postnatal growth retardation, Pa... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Postnatal growth retardation, Pa... |
ORPHA:353277 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Failure to thrive, Hypotension |
ORPHA:556037 |
| Alg12-Cdg |
|
Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza... |
ORPHA:79324 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Patent ductus arteriosus, Growth delay, Atrial septal defect, Double outlet right ... |
OMIM:614886 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Primary Biliary Cholangitis |
|
Autoimmunity, Increased circulating IgA level, Conjugated hyperbilirubinemia, Antinuclear antibod... |
ORPHA:186 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
| Seckel Syndrome 9 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature |
OMIM:616777 |
| Encephalitis Lethargica |
|
Urinary incontinence, Increased circulating antibody level, Autoimmunity |
ORPHA:83600 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Meningocele, Ane... |
ORPHA:1908 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Erythroderma, Myeloprolifer... |
ORPHA:79456 |
| 8P11.2 Deletion Syndrome |
|
Short stature, Patent ductus arteriosus, Mitral valve prolapse, Growth delay, Atrial septal defect |
ORPHA:251066 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia, Bone marrow h... |
ORPHA:3226 |
| Braddock-Carey Syndrome 1 |
|
Growth delay, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Short stature |
OMIM:619115 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
| Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Williams Syndrome |
|
Myocardial infarction, Abnormal cerebral vascular morphology, Rectal prolapse, Gastroesophageal r... |
ORPHA:904 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... |
ORPHA:454831 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Umbilical hernia, Patent for... |
ORPHA:369891 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... |
OMIM:212140 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Short stature |
ORPHA:1915 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Perimembrano... |
OMIM:612474 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Gout, Tubulointe... |
ORPHA:358 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter, Obesity |
ORPHA:3409 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hypotension |
OMIM:203400 |
| 3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
| Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect, Abnorma... |
ORPHA:494344 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
| Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
| Shashi-Pena Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus |
OMIM:617190 |
| Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Mitral valve prolapse |
OMIM:193400 |
| Alazami Syndrome |
|
Atrial septal defect, Postnatal growth retardation |
ORPHA:319671 |
| D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Aminoaciduria, Bradycardia, Micropenis, Failure to thrive |
OMIM:220120 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Mitral valve prolapse |
ORPHA:2848 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Ventricular septal defect, Short stature, Growth delay, Severe intrauterine growth re... |
OMIM:614114 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:2143 |
| Noonan Syndrome 4 |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... |
OMIM:610733 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Systemic lupus e... |
ORPHA:90033 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
| Cap Myopathy |
|
Mitral valve prolapse |
ORPHA:171881 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Increased... |
ORPHA:79240 |
| Cohen Syndrome |
|
Short stature, Delayed puberty, Mitral valve prolapse |
OMIM:216550 |
| Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Hypotension, Telangiectasia macularis erupti... |
ORPHA:79455 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu... |
ORPHA:2169 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Eosinophilia, Keratitis, Increase... |
ORPHA:1163 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Autoimmunity, Skin rash, Abnormal circulating interleukin concentratio... |
ORPHA:69665 |
| Leopard Syndrome 1 |
|
Short stature, Delayed menarche, Complete atrioventricular canal defect, Mitral valve prolapse, P... |
OMIM:151100 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Umbilical hernia, Short stature, Mitral valve prolapse |
OMIM:130000 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Growth delay, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
| Sialidosis Type 1 |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... |
ORPHA:812 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
| Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Patent ductus arteriosus, Postnatal growth retardation, Ventricular septal ... |
OMIM:300963 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Hepatitis, Sepsis, W... |
ORPHA:199299 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Proportionate short stature |
ORPHA:404443 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Tetralo... |
OMIM:617159 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Small for gestational age, Hypospadias, Recurrent pneumonia, Dec... |
OMIM:607143 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Short stature, Mitral valve prolapse, Atrial septal defect, Left... |
ORPHA:230851 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Failure to thrive, Hypolysinemia, Increased circulating ferritin concent... |
OMIM:222700 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:603387 |
| Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Short stature, Patent ductus arteriosus, Pulmonic sten... |
OMIM:614609 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Growth delay, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Short stature |
ORPHA:261279 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... |
ORPHA:347 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Autoimmunity, Renal salt was... |
ORPHA:95409 |
| Pearson Syndrome |
|
Reticulocytosis, Renal insufficiency, Pancytopenia, Small for gestational age, Proteinuria, Hypom... |
ORPHA:699 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Short stature |
ORPHA:459061 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Spina bifida occulta, Transpo... |
OMIM:201000 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Failure to thrive, Hypotension |
ORPHA:556030 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Short stature |
OMIM:618005 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Patent foramen ovale, Right ventri... |
OMIM:616028 |
| Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Nephrot... |
OMIM:251300 |
| Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri... |
OMIM:267010 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... |
ORPHA:100075 |
| Sandhoff Disease, Infantile Form |
|
Mitral valve prolapse |
ORPHA:309155 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
| Distal Triplication 15Q |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Abnormal heart m... |
ORPHA:314588 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... |
OMIM:229600 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Waardenburg Syndrome Type 3 |
|
Atrial septal defect |
ORPHA:896 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein c... |
OMIM:612852 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coronary artery fistula, Neon... |
OMIM:620024 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Increased circulating IgM level, Arthritis,... |
ORPHA:448237 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Intrauterine growth retardation, Postnatal growth retardation |
ORPHA:2728 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
OMIM:620113 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, ... |
OMIM:613795 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:79243 |
| Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
| Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Short stature, Abnormal ao... |
ORPHA:192 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypertension, Anemia |
OMIM:611489 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
| Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect, Short stature |
ORPHA:1488 |
| Kikuchi-Fujimoto Disease |
|
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... |
ORPHA:50918 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:619542 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina bifida, Patent du... |
ORPHA:99776 |
| Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Recurrent infections, Weight loss, Hypotension, Hypertrophic ... |
ORPHA:361 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Patent ductus arteriosus, Mitral valve prolapse |
OMIM:104350 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Microscopic hematuria... |
OMIM:308940 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Mitral valve prolapse, Myxomatou... |
OMIM:194050 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Short stature |
OMIM:612528 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
| Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology |
ORPHA:199276 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Short stature |
ORPHA:79113 |
| 7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Postnatal growth retardation, Patent ductus arteriosus after birth at term,... |
ORPHA:251061 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Subvalvular aortic stenosis |
OMIM:619461 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Atrial se... |
ORPHA:1335 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Feingold Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Tricuspid atresia, Tricuspid stenosis |
OMIM:164280 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve, Delayed puberty |
OMIM:619475 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
| Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Short stature, Disproportionate short-trunk short stature |
ORPHA:85194 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... |
OMIM:619167 |
| Cranioectodermal Dysplasia 1 |
|
Rhizomelia, Bicuspid aortic valve |
OMIM:218330 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Pelger-Huet Anomaly |
|
Umbilical hernia, Mild short stature, Ventricular septal defect |
OMIM:169400 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... |
ORPHA:125 |
| Mosaic Trisomy 16 |
|
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, A... |
ORPHA:1708 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:261197 |
| Classical Ehlers-Danlos Syndrome |
|
Umbilical hernia, Tricuspid valve prolapse, Mitral valve prolapse |
ORPHA:287 |
| 19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:254346 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... |
OMIM:127550 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
| Keutel Syndrome |
|
Ventricular septal defect, Short stature |
ORPHA:85202 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Autoimmunity, Hypercalcemia, Parathormone-independent in... |
ORPHA:405 |
| Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... |
ORPHA:56 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Vici Syndrome |
|
Renal tubular acidosis, Decreased circulating IgG2 level, Decreased circulating IgG level, Ureter... |
ORPHA:1493 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Left ventricular hypertrophy, Hypert... |
OMIM:220111 |
| Noonan Syndrome 13 |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:619087 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
| Bdv Syndrome |
|
Atrial septal defect, Delayed puberty |
OMIM:619326 |
| Kabuki Syndrome 2 |
|
Short stature, Postnatal growth retardation, Pulmonic stenosis, Atrial septal defect, Intrauterin... |
OMIM:300867 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... |
OMIM:617052 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Mitral valve prolapse |
OMIM:258450 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Intrauterine growth retardation |
OMIM:620183 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
| Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Spider hema... |
ORPHA:171 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... |
OMIM:617360 |
| Congenital Contractural Arachnodactyly |
|
Mitral valve prolapse |
ORPHA:115 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Atrial septal defect, Intrauterine ... |
OMIM:105650 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Intrauterine growth retardation, Postnatal growth retardation, Patent foram... |
OMIM:619184 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Short stature, Delayed puberty |
ORPHA:1772 |
| 19P13.3 Microduplication Syndrome |
|
Growth delay, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:447980 |
| Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Short stature |
ORPHA:363528 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hyponatremia, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Hypoka... |
OMIM:617913 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus arteriosus, Tracheoesophag... |
ORPHA:141127 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616866 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Growth delay, Hypoplastic lef... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Growth delay, Hypoplastic lef... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Growth delay, Hypoplastic lef... |
ORPHA:99226 |
| Turner Syndrome |
|
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Growth delay, Hypoplastic lef... |
ORPHA:881 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hypotension |
OMIM:177735 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... |
ORPHA:319218 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
ORPHA:52055 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly, Hypertension, Pulmonary arterial hypertension, Vascular ... |
OMIM:613320 |
| Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
| Wiedemann-Steiner Syndrome |
|
Short stature, Postnatal growth retardation, Patent ductus arteriosus, Atrial septal defect, Intr... |
OMIM:605130 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Intrauterine growth retardation, Dextrocardia |
ORPHA:2257 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Hypotension, Mastocytosis, Arrhythmia, Failure to thrive |
ORPHA:2135 |
| Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Weight loss... |
ORPHA:420741 |
| Ddost-Cdg |
|
Failure to thrive, Nephrotic range proteinuria |
ORPHA:300536 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short stature, Mitral valve prolapse |
OMIM:616202 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Short stature, Dextrotransposition of the great arteries |
OMIM:619995 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Short stature |
OMIM:145420 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:607155 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Increased circulating antibody level,... |
ORPHA:77261 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Spinal dysra... |
ORPHA:1926 |
| Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Patent ductus arteriosus, Lethal short-limbed short stature |
ORPHA:1860 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Mitral stenosis, Mitral valve calcification, Cardiomegaly |
OMIM:231005 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Short stature, Cardiomegaly, Patent ductus arteriosus, Mitral valve pr... |
OMIM:602782 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Short stature |
OMIM:616901 |
| Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... |
OMIM:618775 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature |
OMIM:615630 |
| Phaver Syndrome |
|
Intrauterine growth retardation, Myelomeningocele, Ventricular septal defect |
ORPHA:2876 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... |
OMIM:616897 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect, Short stature |
ORPHA:1770 |
| Stevenson-Carey Syndrome |
|
Atrial septal defect |
OMIM:611961 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
| Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... |
OMIM:615508 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
OMIM:616878 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Intraventricular h... |
OMIM:619055 |
| Fanconi Anemia, Complementation Group B |
|
Growth delay, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300514 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Abnormal heart morphology, Aminoaciduria, Polycystic kidney dysplasia, Camptod... |
OMIM:214110 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Mitral valve prolapse |
OMIM:618874 |
| Short Stature-Micrognathia Syndrome |
|
Intrauterine growth retardation, Rhizomelia, Ventricular septal defect, Short stature |
OMIM:617164 |
| Alagille Syndrome |
|
Ventricular septal defect, Delayed puberty, Atrial septal defect, Intrauterine growth retardation... |
ORPHA:52 |
| Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Lymphangiectasis |
ORPHA:182 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Short stature |
OMIM:618325 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respiratory i... |
OMIM:618278 |
| Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypoplastic left heart, Atria... |
ORPHA:2473 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Short stature |
OMIM:610536 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy... |
ORPHA:88 |
| Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:95430 |
| Tarp Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Neonatal death |
OMIM:311900 |
| Infant Botulism |
|
Cardiac arrest, Xerostomia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
| Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Short stature |
ORPHA:293939 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... |
OMIM:253800 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Short st... |
OMIM:143095 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
| Hydroxykynureninuria |
|
Stomatitis, Tachycardia, Hypotension |
ORPHA:79155 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Mitral valve prolapse |
OMIM:236200 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis, Short stature |
OMIM:616298 |
| Cohen Syndrome |
|
Ventricular septal defect, Short stature, Mitral valve prolapse, Delayed puberty, Intrauterine gr... |
ORPHA:193 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Patent ductus arteriosus, Short stature, Dextrocardia |
OMIM:277380 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature |
OMIM:617602 |
| Codas Syndrome |
|
Ventricular septal defect, Short stature |
ORPHA:1458 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| 20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricle morphology, Growth delay |
ORPHA:261311 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
| Noonan Syndrome 14 |
|
Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis, Mitral valve prolapse |
OMIM:619745 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... |
OMIM:232300 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe postnatal growth retardation, Ventricular septal defect |
ORPHA:3078 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... |
OMIM:248500 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
| Kury-Isidor Syndrome |
|
Growth delay, Ventricular septal defect |
OMIM:619762 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Cachexia, Hypovolemia, Esophageal varix, Weig... |
ORPHA:275761 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic an... |
OMIM:619525 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, Intrauterine growth... |
OMIM:300998 |
| Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
| Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Eosinophilia, Renal cyst, Weight loss, Abnormal spleen morphology, In... |
ORPHA:284 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
| Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Short stature |
OMIM:603467 |
| Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Patent ductus arteriosus, Patent foramen ovale |
OMIM:251290 |
| Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Short stature |
OMIM:619648 |
| Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Short stature, Growth delay, Coronary artery fistula, Ab... |
OMIM:614294 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, Postnatal growth retardation |
OMIM:620242 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Growth delay, Short stature |
ORPHA:93947 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619383 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis... |
ORPHA:534 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... |
ORPHA:508533 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Intrauterine growth... |
ORPHA:2209 |
| Argininosuccinic Aciduria |
|
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduri... |
OMIM:207900 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Umbilical hernia, Mitral valve prolapse |
OMIM:618000 |
| Fg Syndrome Type 1 |
|
Atrial septal defect, Umbilical hernia, Short stature, Mitral valve prolapse |
ORPHA:93932 |
| Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Autoimmunity, Renal salt wasting, Decreased urina... |
ORPHA:85138 |
| Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
| Neuroendocrine Neoplasm Of Appendix |
|
Mechanical ileus, Functional intestinal obstruction, Tricuspid stenosis, Midgut malrotation, Hear... |
ORPHA:100079 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
| 19Q13.11 Microdeletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:217346 |
| Myopathy With Extrapyramidal Signs |
|
Growth delay, Ventricular septal defect |
OMIM:615673 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Pseudoxanthoma Elasticum |
|
Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse |
OMIM:264800 |
| Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Postnatal growth retardation, Short stature |
OMIM:609625 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Anemia |
OMIM:301500 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Ventricular septal defect |
OMIM:610832 |
| Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death |
OMIM:620244 |
| Pheochromocytoma |
|
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171300 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Disproportionate... |
ORPHA:2637 |
| Dysosteosclerosis |
|
Ventricular septal defect, Short stature |
ORPHA:1782 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Intrauterine growth retardation, Dou... |
OMIM:301056 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Interstitial pneumonitis, Hypotension |
ORPHA:330021 |
| Sotos Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Muscular ventricular s... |
OMIM:117550 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circula... |
OMIM:210900 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1790 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Weight loss, Hypertension, Hypotension, Thrombocytosis |
ORPHA:134 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Increased c... |
OMIM:615846 |
| Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Short stature, Complete atrioventricular canal defect, Growth delay, A... |
OMIM:617063 |
| Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Intraut... |
OMIM:300712 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ... |
OMIM:277600 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Weight lo... |
ORPHA:20 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Heparan sulf... |
ORPHA:217085 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Decreased circulating total IgM, Failure to thrive, Anemia, Decr... |
OMIM:620040 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:397709 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary valve atresia, Growth delay, Atrial septal de... |
OMIM:301030 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
| White-Sutton Syndrome |
|
Short stature, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth retardation, P... |
OMIM:616364 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Buratti-Harel Syndrome |
|
Atrial septal defect |
OMIM:619314 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Weight l... |
ORPHA:465508 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod... |
ORPHA:244242 |
| Recombinant 8 Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:96167 |
| Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect |
OMIM:611174 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Patent ductus arteriosus |
OMIM:617397 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cachexia, Cardiomegaly |
ORPHA:42 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Heparan sulf... |
ORPHA:217093 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Short stature, Secundum atrial septal defect, Patent ductus arter... |
ORPHA:1600 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Cardiomyopathy, Aminoaciduria |
OMIM:616084 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Failure to thrive, Telangiectasia of the skin |
ORPHA:2176 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Growth delay |
OMIM:619121 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Autoimmune antibody posi... |
ORPHA:99885 |
| Lethal Kniest-Like Dysplasia |
|
Atrial septal defect, Severe short-limb dwarfism, Mesomelic/rhizomelic limb shortening |
ORPHA:2347 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Lethal Congenital Contracture Syndrome 10 |
|
Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Failure to thrive, Hypovolemia, Hypotension |
ORPHA:427 |
| Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Short stature, Dysplastic aortic valve |
OMIM:605822 |
| Stickler Syndrome, Type I |
|
Mitral valve prolapse |
OMIM:108300 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme... |
OMIM:146255 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
| Plague |
|
Chapped lip, Tachycardia, Hepatomegaly, Skin rash, Hematemesis, Splenomegaly, Lymphadenitis, Eryt... |
ORPHA:707 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
| Bohring-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Mesomelic/rhizomelic limb shortening, Atrial septal def... |
OMIM:605039 |
| Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia |
ORPHA:71273 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Mitral valve prolapse |
OMIM:616914 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Short stature |
ORPHA:166035 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:300472 |
| Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo... |
ORPHA:1507 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Patent ductus arteriosus, Neonatal death, Atrial septal defect, Aortic va... |
OMIM:208540 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m... |
ORPHA:2314 |
| Gaucher Disease |
|
Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein concentration, ... |
ORPHA:355 |
| Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect |
OMIM:619143 |
| Coffin-Siris Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Abnormal heart... |
ORPHA:1465 |
| Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Short stature, Growth delay, Abnormal cardiac septum morphology, Atria... |
ORPHA:209905 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Mitral valve prolapse |
OMIM:177850 |
| Congenital Isolated Acth Deficiency |
|
Hepatitis, Hypotension |
ORPHA:199296 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... |
OMIM:208500 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Proportionate short stature, Postnatal growth retardation, Patent duct... |
ORPHA:79345 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, At... |
OMIM:249420 |
| Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... |
ORPHA:324 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... |
OMIM:602668 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mitral valve prolapse |
ORPHA:449291 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Aminoaciduria, Albuminuria, Elevated circulating long chain fatty acid concentration... |
OMIM:214100 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| 16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:261236 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... |
ORPHA:423 |
| Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis |
OMIM:202650 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Short stature, Pulmonic stenosis |
OMIM:615802 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outlet r... |
OMIM:618223 |
| Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Restrictive cardiomyopathy, Mitral valve prolapse |
ORPHA:758 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Growth delay |
OMIM:614749 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Umbilical hernia, Growth delay |
OMIM:619758 |
| Poliomyelitis |
|
Meningitis, Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis |
ORPHA:2912 |
| Heart And Brain Malformation Syndrome |
|
Growth delay, Ventricular septal defect |
OMIM:616920 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect |
OMIM:620194 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis |
OMIM:619471 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short stature, Postnatal growth retardation, Pulmonic stenosis, Atrial septal defect, Intrauterin... |
OMIM:257300 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, ... |
ORPHA:261330 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
| Distal Deletion 10Q |
|
Short stature, Postnatal growth retardation, Patent ductus arteriosus, Atrial septal defect, Spin... |
ORPHA:96148 |
| Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Ventricular septal defect, Growth delay |
OMIM:614424 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mild postnatal growth retardation, Bicuspid aortic valve, Partial anomalous pulmonary venous retu... |
OMIM:150230 |
| Fanconi Anemia, Complementation Group Q |
|
Growth delay, Short stature, Primum atrial septal defect |
OMIM:615272 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| 3Mc Syndrome 1 |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Growth delay, ... |
OMIM:257920 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreased circulating... |
OMIM:612301 |
| Monosomy 13Q34 |
|
Growth delay, Common atrium, Pulmonic stenosis |
ORPHA:96168 |
| Ogden Syndrome |
|
Postnatal growth retardation, Ventricular septal defect |
ORPHA:276432 |
| Diamond-Blackfan Anemia 10 |
|
Growth delay, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:613309 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly |
OMIM:266500 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
| Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Common atrium, Neonatal short-limb short stature, Disproportionate short-li... |
OMIM:225500 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria |
ORPHA:86818 |
| Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of... |
ORPHA:1780 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Abnormal hea... |
ORPHA:580 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Short stature |
ORPHA:96097 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
| Gm1 Gangliosidosis |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Ca... |
ORPHA:354 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Mitral ... |
ORPHA:444072 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus, Rhizomelia |
OMIM:618162 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Short stature... |
ORPHA:508488 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Short stature |
OMIM:614207 |
| Robinow Syndrome |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Pulmonic stenosis, Atrial se... |
ORPHA:97360 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Impaired lymphocyte transformation with phytohemagglutinin, Decr... |
ORPHA:79329 |
| Trisomy 1Q |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261344 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Ventricular septal defect |
OMIM:234050 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
| Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Short stature |
OMIM:617260 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Mild postnatal growth retardation, Ventricular septal defect, Peric... |
OMIM:235510 |
| Melas |
|
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne... |
ORPHA:550 |
| Neurocardiofaciodigital Syndrome |
|
Short stature, Patent ductus arteriosus, Double inlet left ventricle, Atrial septal defect, Tetra... |
OMIM:619869 |
| Scleromyxedema |
|
Paraproteinemia, Elevated circulating creatine kinase concentration, Abnormality of the kidney |
ORPHA:167635 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Short stature |
OMIM:619179 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Retinal hemorrhage, U... |
ORPHA:509 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... |
ORPHA:293173 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Failure to thrive, Camptodactyly of finger, Elevated circ... |
OMIM:309000 |
| Chops Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Anomalous pulmonary venous re... |
OMIM:616368 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Small for gestational age... |
ORPHA:99843 |
| Brittle Cornea Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
| Osteogenesis Imperfecta, Type I |
|
Mitral valve prolapse |
OMIM:166200 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductus arteriosus, ... |
ORPHA:96191 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart morphology |
ORPHA:85438 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Short stature, Delayed puberty |
OMIM:618891 |
| Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... |
OMIM:606812 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Hereditary Angioedema Type 1 |
|
Intestinal edema, Abnormal soft palate morphology, Hypotension, Dysphagia, Abnormal uvula morphology |
ORPHA:100050 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot |
OMIM:617925 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep... |
OMIM:617506 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra... |
ORPHA:2538 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Right atrial enlargement, Mitral valve prolapse |
OMIM:620233 |
| Interstitial Lung And Liver Disease |
|
Hypoxemia, Aminoaciduria, Failure to thrive, Hyperammonemia |
OMIM:615486 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:611812 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
| C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:211750 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Patent ductus arteriosus, Short stature |
OMIM:300968 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Antiphospholipid antibody positivity, Osteomyelitis, Autoimmunity, Elevated circulating C-reactiv... |
ORPHA:70591 |
| Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Short stature, Cardiomyopathy, Severe postnatal growth retardation, At... |
ORPHA:769 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal heart morphology, At... |
ORPHA:2745 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the m... |
OMIM:268800 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Short stature, Secundum atrial septal defect, Growth delay, Perimembranous ventricular septal def... |
OMIM:608779 |
| Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Patent ductus arteriosus, Anencephaly, Neonatal death, Intrauterine gr... |
OMIM:269860 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect |
ORPHA:436003 |
| Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
| Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Severe short stature |
ORPHA:1051 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Elevated hepatic iron concentration |
OMIM:614946 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:613834 |
| Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
| Pde4D Haploinsufficiency Syndrome |
|
Obesity, Hypotension |
ORPHA:439822 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron ... |
OMIM:619991 |
| Trisomy 18 |
|
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Atrial septal ... |
ORPHA:3380 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Stillbirth, Intra... |
OMIM:236680 |
| Shprintzen-Goldberg Syndrome |
|
Umbilical hernia, Abnormal aortic valve morphology, Mitral valve prolapse |
ORPHA:2462 |
| Juvenile Polyposis Of Infancy |
|
Atrial septal defect, Patent ductus arteriosus, Short stature, Abnormal heart morphology |
ORPHA:79076 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intraut... |
OMIM:610505 |
| Lymphatic Malformation 7 |
|
Pericardial effusion, Atrial septal defect |
OMIM:617300 |
| Cardiofaciocutaneous Syndrome |
|
Short stature, Abnormal heart valve morphology, Pulmonic stenosis, Atrial septal defect, Hypertro... |
ORPHA:1340 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Renal hypoplasia, Decr... |
OMIM:620005 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... |
ORPHA:1393 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Hypercholesterolemia, Polyuria, Small for gestatio... |
OMIM:606721 |
| Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Nephro... |
ORPHA:342 |
| Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, Patent foramen ovale |
OMIM:615582 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... |
ORPHA:289176 |
| Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Short stature |
OMIM:600373 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Short stature |
ORPHA:85201 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... |
ORPHA:2614 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect |
OMIM:219730 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:612530 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Growth delay, P... |
OMIM:613457 |
| Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Flexion con... |
OMIM:617140 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Mitral stenos... |
ORPHA:163956 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... |
ORPHA:379 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... |
ORPHA:556 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia |
OMIM:615399 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... |
OMIM:122470 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Pancytopenia, Proteinuria, Chordee, Micropenis |
OMIM:300519 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Growth... |
ORPHA:2152 |
| Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
| Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia, Weight loss |
ORPHA:2905 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Postnatal growth retardation, Short stature |
ORPHA:261323 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stat... |
ORPHA:261552 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Growth delay, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:600460 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
| Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Mitral valve prolapse |
OMIM:305620 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... |
OMIM:607721 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Short stature, Spina bifida, Pate... |
ORPHA:567 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
| Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Birth l... |
OMIM:139210 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Severe short stature, Ventricular septal defect, Patent ductus arteriosus, Growth delay, Atrial s... |
ORPHA:3047 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
| Kawasaki Disease |
|
Pericarditis, Proteinuria, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Sterile pyuria, Cheil... |
ORPHA:2331 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect |
OMIM:222448 |
| Neurooculorenal Syndrome |
|
Dextrocardia, Postnatal growth retardation, Mitral valve prolapse, Tetralogy of Fallot with pulmo... |
OMIM:620305 |
| Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... |
ORPHA:3132 |
| De Barsy Syndrome |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
ORPHA:2962 |
| Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
| Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
| Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
| Alexander Disease |
|
Sudden cardiac death, Hypertension, Hypotension, Failure to thrive, Infectious encephalitis |
ORPHA:58 |
| Fibrochondrogenesis 1 |
|
Rhizomelia, Stillbirth, Patent foramen ovale |
OMIM:228520 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Growth delay, Patent ductus arteriosus, Patent foramen ovale, Short stature |
OMIM:618076 |
| Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Increased circulating IgM level, Increased circulating antibody level... |
ORPHA:79139 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia |
OMIM:612300 |
| Dubowitz Syndrome |
|
Hypospadias, Eczema, Aplastic anemia, Acute lymphoblastic leukemia, Otitis media, Hypocholesterol... |
OMIM:223370 |
| Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Umbilical hernia, Mitral valve prolapse |
ORPHA:1900 |
| Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Failure to thrive in infancy, Proteinuria, Abnormality of the ... |
ORPHA:2162 |
| Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Short stature, Patent ductus arteriosus, Double outlet r... |
OMIM:300166 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d... |
ORPHA:96121 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Peritonitis, Recurrent aphthous stomatitis, Increased circulating IgA level |
ORPHA:343 |
| Zellweger Syndrome |
|
Ventricular septal defect, Short stature |
ORPHA:912 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Gastric ulcer, Malabsorption |
ORPHA:3463 |
| Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ... |
OMIM:608328 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Hyperlipidemi... |
ORPHA:391665 |
| Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Growth delay |
OMIM:600268 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:369837 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect |
OMIM:207410 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Cardiomegaly, Abnormal interna... |
ORPHA:365 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short stature, Ventricular septal defect, Patent ductus arteriosus, Pate... |
OMIM:616894 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Ragged-red muscle fibers, Rhabdomyolysis, Lacticaciduria, Tubulointerstitial ne... |
OMIM:124000 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature |
OMIM:615503 |
| Wagro Syndrome |
|
Nephroblastoma, Proteinuria, Obesity |
OMIM:612469 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Short stature, Abnormal heart morphol... |
ORPHA:261537 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Growth delay |
ORPHA:1439 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Short stature, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Mitral valve prolapse, Pulmo... |
ORPHA:363700 |
| Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis |
OMIM:115150 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short stature |
ORPHA:163979 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Growth delay, Intrauterine growth retardation, Ventricular septal defect |
OMIM:614653 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Atrial septal defect, Histiocytoid ca... |
OMIM:309801 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... |
ORPHA:2369 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardio... |
OMIM:105210 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Jacobsen Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:147791 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Short stature, Mitral valve prolapse |
OMIM:259600 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:614080 |
| Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
| Mucopolysaccharidosis, Type Vi |
|
Short stature, Disproportionate short-trunk short stature, Dermatan sulfate excretion in urine, C... |
OMIM:253200 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c |
OMIM:619127 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
OMIM:244450 |
| Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Intrauterine growth retardation |
OMIM:620076 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pancytopenia, Iridocyclitis, Splenomegaly, Hypercalciuria, Uvei... |
OMIM:181000 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hemolytic anemia |
OMIM:266120 |
| Larsen Syndrome |
|
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... |
OMIM:150250 |
| Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... |
OMIM:230000 |
| Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Short stature, Postnatal growth retardation, Cardiomyopathy, Ab... |
ORPHA:576 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Ventricular septal defect |
OMIM:617798 |
| Agel Amyloidosis |
|
Keratoconjunctivitis sicca, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
| 2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:251014 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Umbilical hernia, Mitral valve prolapse |
OMIM:182212 |
| Duane-Radial Ray Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect |
OMIM:607323 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem... |
ORPHA:761 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect |
OMIM:619951 |
| Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Decreased circulating IgG level, Small for gestational age, Erythroderma |
OMIM:601675 |
| Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... |
OMIM:609242 |
| Proximal Spinal Muscular Atrophy |
|
Atrial septal defect |
ORPHA:70 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Short stature |
OMIM:250410 |
| Pallister-Hall Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Neonatal death, Intrauterine ... |
OMIM:146510 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Postnatal growth retardation, Ventricular septal defect, Short stature |
OMIM:212066 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Spina bifida occulta, Ventricular septal defect, Mitral valv... |
ORPHA:500095 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Umbilical hernia, Mitral valve prolapse |
ORPHA:536532 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Patent ductus arteriosus, Birth length less than 3rd percentile, Intra... |
ORPHA:464311 |
| Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr... |
ORPHA:1519 |
| Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Growth delay, Patent foramen ovale |
OMIM:225250 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:619534 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis |
ORPHA:2575 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Short stature |
OMIM:272950 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Growth delay, Subvalvular aortic stenosis, Atrial septal defect, Intrauterine grow... |
ORPHA:1052 |
| Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
| Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:464738 |
| Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Spina b... |
OMIM:300373 |
| Viss Syndrome |
|
Chronic gastritis, Eczema, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis,... |
OMIM:619472 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Cachexia, Esophageal varix, Calcification of the aorta, Varicos... |
ORPHA:2072 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:614866 |
| Alg9-Cdg |
|
Ventricular septal defect, Rhizomelia, Pericardial effusion, Abnormal heart morphology, Right ven... |
ORPHA:79328 |
| Khan-Khan-Katsanis Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus after premature birth, Short stature, Intrauterine... |
OMIM:618460 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Short stature, Coronary sinus enlargement, Atrial septal defect, Paten... |
OMIM:619268 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Postnatal growth retardation, Growth delay, Perimembranous ventricular... |
OMIM:301040 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect, Short stature |
OMIM:178110 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Umbilical hernia, Patent fora... |
OMIM:618454 |
| Prader-Willi Syndrome Due To Translocation |
|
Short stature, Patent ductus arteriosus, Abnormal heart morphology, Intrauterine growth retardati... |
ORPHA:177907 |
| Sweeney-Cox Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:617746 |
| Trichohepatoenteric Syndrome 1 |
|
Short stature, Ventricular septal defect, Large placenta, Pulmonic stenosis, Intrauterine growth ... |
OMIM:222470 |
| Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
| Opitz Gbbb Syndrome |
|
Growth delay, Umbilical hernia, Ventricular septal defect |
OMIM:300000 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Congestive ... |
OMIM:252500 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:619229 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Short stature, Mitral valve prolapse, Biventricular hypertrophy, Atrial septal defect, Patent for... |
OMIM:617402 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Gastritis, Myocarditis, Xerostomia, Gastroesophageal r... |
ORPHA:809 |
| Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
ORPHA:2092 |
| Tarp Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot |
ORPHA:2886 |
| Fanconi Anemia |
|
Short stature, Spina bifida, Patent ductus arteriosus, Growth delay, Abnormal cardiac septum morp... |
ORPHA:84 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:607459 |
| Marden-Walker Syndrome |
|
Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal a... |
ORPHA:2461 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Umbilic... |
OMIM:602535 |
| Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Patent foramen ovale |
OMIM:617557 |
| Velocardiofacial Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Short stature |
OMIM:192430 |
| Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Ventricular septal defect, Short stature |
OMIM:227645 |
| Distal Deletion 6P |
|
Atrial septal defect |
ORPHA:96125 |
| Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Short stature |
OMIM:620072 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Intrauterine growth retardati... |
ORPHA:464306 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Patent ductus arteriosus, Atrial septal d... |
OMIM:274000 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Occipital meningocele, Anencephaly |
OMIM:616546 |
| Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Aortic valve stenosis, Delaye... |
ORPHA:955 |
| Lymphatic Malformation 6 |
|
Atrial septal defect, Short stature |
OMIM:616843 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Severe intrauterine growth retardation |
OMIM:609069 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Eczema, Hypotension |
ORPHA:428 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Gastroesophageal reflux, Hypotension |
OMIM:608643 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Transposition of t... |
OMIM:256520 |
| Legius Syndrome |
|
Short stature, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
| Meester-Loeys Syndrome |
|
Umbilical hernia, Short stature, Mitral valve prolapse |
OMIM:300989 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Short stature |
ORPHA:398069 |
| Restrictive Dermopathy 1 |
|
Patent ductus arteriosus, Hydropic placenta, Stillbirth, Short umbilical cord, Neonatal death, At... |
OMIM:275210 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Postnatal growth retardation, Short stature |
OMIM:213980 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect |
OMIM:235255 |
| Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Growth delay,... |
OMIM:616268 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Postnatal growth retardation, Ventricular septal defect |
ORPHA:251028 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Intrauterine growth retardati... |
OMIM:616975 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Short stature, Disproportionate short-trunk short... |
ORPHA:457395 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Mitral valve prolapse, Abnormal heart morphology, Atrial septal defect, Intrauteri... |
OMIM:615873 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Ventricular septal defect |
ORPHA:1655 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Short stature, Delayed puberty |
ORPHA:3138 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
| Omodysplasia 1 |
|
Rhizomelia, Ventricular septal defect, Disproportionate short-limb short stature, Atrial septal d... |
OMIM:258315 |
| Cockayne Syndrome B |
|
Renal insufficiency, Small for gestational age, Proteinuria, Splenomegaly, Severe failure to thri... |
OMIM:133540 |
| Aicardi-Goutières Syndrome |
|
Myositis, Chilblains, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Cardiomegaly, Cal... |
ORPHA:51 |
| Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Short stature, Spina bifida, Postnatal growth retardation, Patent duct... |
OMIM:180849 |
| Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Rhizomelia, Patent ductus arteriosus, Growth delay, Atr... |
ORPHA:818 |
| Costello Syndrome |
|
Ventricular septal defect, Short stature, Mitral valve prolapse, Pulmonic stenosis, Atrial septal... |
OMIM:218040 |
| Leigh Syndrome |
|
Growth delay, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal de... |
ORPHA:506 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Recurrent sinopulmonary infections, Abnormal mitral valve morphology, Cardiomegaly,... |
ORPHA:581 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, Hematemesis, Pate... |
OMIM:301068 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Postnatal growth retardation, Ventricular septal ... |
OMIM:117650 |
| Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Hypotension |
ORPHA:95613 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
OMIM:163950 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci... |
OMIM:617062 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Right ventricular hypertrophy |
ORPHA:280633 |
| Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Otitis media, Micropenis, Obesity, H... |
ORPHA:64 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hypotension |
ORPHA:90791 |
| Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:206900 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Mitral valve prolapse |
ORPHA:369950 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
| Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Abnormal cardiac septum morphology, Abnorm... |
ORPHA:280 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Short stature, Abnormal heart valve morphology, Pulmonic stenosis, Atrial septal defect, Aortic v... |
ORPHA:536471 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Gastritis, Epistaxis, Hematemesis, Myocarditis, Entero... |
ORPHA:73263 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Decreased body weight, Thro... |
OMIM:608013 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Growth delay, Atrial septal... |
OMIM:301044 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Postnatal growth retardation, Mitral valve prolapse |
ORPHA:536467 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypotension, Dysphagia |
ORPHA:93256 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Growth delay, Hypoplastic left heart, Int... |
ORPHA:2308 |
| Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Failu... |
ORPHA:51608 |
| Restrictive Dermopathy |
|
Dextrocardia, Large placenta, Patent ductus arteriosus, Short umbilical cord, Transposition of th... |
ORPHA:1662 |
| Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| X-Linked Intellectual Disability, Armfield Type |
|
Abnormal cardiac septum morphology, Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Short stature, Pulmonic stenosis |
OMIM:601321 |
| Cranioectodermal Dysplasia 2 |
|
Short stature, Rhizomelia, Patent ductus arteriosus, Atrial septal defect, Left ventricular hyper... |
OMIM:613610 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Umbilica... |
OMIM:616145 |
| Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect |
ORPHA:522077 |
| Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Growth delay, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale |
ORPHA:17 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Anemia of inadequate production |
ORPHA:91349 |
| Fucosidosis |
|
Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:349 |
| Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Failure to thrive |
OMIM:216400 |
| Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Cardiomegaly, Recurrent infections, Abnormal cardiac septum mor... |
ORPHA:97297 |
| Mosaic Trisomy 1 |
|
Ventricular septal defect |
ORPHA:1692 |
| Trichothiodystrophy |
|
Cardiomyopathy, Umbilical hernia, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:33364 |
| Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... |
OMIM:192350 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:436252 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Disproportionate short stature, Se... |
OMIM:210710 |
| Chromosome 13Q14 Deletion Syndrome |
|
Growth delay, Umbilical hernia, Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... |
ORPHA:91347 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho... |
ORPHA:97214 |
| Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Short stature, Atrial septal defect, Intrauterine growth retardation, Patent fora... |
OMIM:620186 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Patent foramen ovale, Short stature |
OMIM:300990 |
| Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect |
OMIM:609460 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Hypoplastic right heart |
OMIM:617403 |
| Microphthalmia, Syndromic 1 |
|
Growth delay, Bicuspid aortic valve |
OMIM:309800 |
| Hajdu-Cheney Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:102500 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Telangiectasia, Aminoaciduria, Failure t... |
ORPHA:910 |
| Fryns Syndrome |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:229850 |
| Degcags Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Int... |
OMIM:619488 |
| Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Short stature |
OMIM:619575 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Ventricular septal defect, Short stature |
OMIM:618846 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
| Oculodentodigital Dysplasia |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:2710 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilia, Cholangitis, Eczema, Eosinophilia, Thrombocyt... |
ORPHA:3260 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:300868 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Dilatation of the ventricular cavity, Growth delay, Delayed puberty, A... |
ORPHA:459070 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect |
ORPHA:268249 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Growth delay, Umbilical hernia, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:613177 |
| Oculodentodigital Dysplasia |
|
Atrial septal defect |
OMIM:164200 |
| Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomegaly, Congestive heart failure, Keratoconj... |
ORPHA:14 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Pa... |
ORPHA:444077 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
| Marfan Syndrome |
|
Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephrosis |
ORPHA:2750 |
| Renpenning Syndrome 1 |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Atrial septal defect, Tetralogy... |
OMIM:309500 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Short stature, Abnormal heart mor... |
ORPHA:268261 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect |
OMIM:619512 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Cardiomegaly, Mucosal telangiectasiae |
ORPHA:2463 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d... |
OMIM:270400 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Pu... |
OMIM:235730 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Anemia, Recurrent Staphylococcus aureus infections, Syncope, S... |
ORPHA:642 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Intrauterine growth retardation |
OMIM:300896 |
| Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Occipital encephalocele, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
| Distal Deletion 12Q |
|
Short stature, Patent ductus arteriosus, Growth delay, Congenital hypertrophy of left ventricle, ... |
ORPHA:96149 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria |
ORPHA:1272 |
| Apert Syndrome |
|
Rhizomelic arm shortening, Overriding aorta, Ventricular septal defect |
OMIM:101200 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Disproportionate short stature, Rhizomelia |
OMIM:250220 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect |
OMIM:123700 |
| Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short stature |
OMIM:154400 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Subvalvular aortic stenosis, Umbi... |
OMIM:280000 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Simpson-Golabi-Behmel Syndrome |
|
Atrial septal defect, Cardiomyopathy, Umbilical hernia, Ventricular septal defect |
ORPHA:373 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Rhizomelia, Short stature, Mitral valve prolapse, Growth delay, ... |
ORPHA:666 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Growth delay, Ventricular septal defect |
OMIM:619418 |
| Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
OMIM:135900 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d... |
OMIM:619522 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... |
ORPHA:95455 |
| Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... |
OMIM:614976 |
| Poland Syndrome |
|
Atrial septal defect, Encephalocele, Spina bifida occulta, Dextrocardia |
ORPHA:2911 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Severe short stature |
ORPHA:2526 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Diphallia |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:227 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension |
ORPHA:168558 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect, Postnatal growth retardation |
OMIM:269150 |
| Prolactinoma |
|
Hypotension |
ORPHA:2965 |
| Alagille Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:118450 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension |
ORPHA:289548 |
| Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Skin rash, Hepatitis, Intracranial hemorrhage, Hypotension, T... |
ORPHA:90062 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Large placenta, Spinal dy... |
ORPHA:96334 |
| Femoral-Facial Syndrome |
|
Truncus arteriosus, Short stature, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
| Peters-Plus Syndrome |
|
Ventricular septal defect, Rhizomelia, Postnatal growth retardation, Patent ductus arteriosus, Bi... |
OMIM:261540 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:616682 |
| Esophageal Atresia |
|
Growth delay, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1199 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, Cardiomyopa... |
ORPHA:3472 |
| Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Short stature, Growth delay, Severe postnatal growth retardation, Atri... |
OMIM:194190 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Moderate albuminuria, Periodontitis, Obesity |
OMIM:619269 |
| Townes-Brocks Syndrome |
|
Short stature, Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac se... |
ORPHA:857 |
| Tetrasomy 9P |
|
Pericarditis, Dextrocardia, Abnormal cardiac septum morphology, Abnormal mitral valve morphology,... |
ORPHA:3310 |
| Atypical Werner Syndrome |
|
Short stature, Aortic valve calcification, Mitral valve prolapse, Delayed puberty, Aortic valve s... |
ORPHA:79474 |
| Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Patent foramen ovale |
OMIM:618653 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Growth delay, Patent foramen ovale, Short stature, Delayed puberty |
ORPHA:391487 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Short stature |
OMIM:619727 |
| Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Atrial septal defect, Total anomalous pulmonary venous return |
OMIM:609945 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Delayed menarche, Aortic va... |
ORPHA:740 |
| Pmm2-Cdg |
|
Pericarditis, Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Hypoalbuminemia... |
ORPHA:79318 |
| Bartsocas-Papas Syndrome 1 |
|
Intrauterine growth retardation, Patent foramen ovale |
OMIM:263650 |
| Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1934 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary window |
OMIM:620025 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Proportionate short stature, Patent ductus arteriosus after birth at term, Abnormal heart morphol... |
ORPHA:500150 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Frontal enceph... |
OMIM:268300 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Acne, Hypovolemia, Weight loss, Hypotension, Failure to thrive |
ORPHA:90794 |
| Floating-Harbor Syndrome |
|
Atrial septal defect, Umbilical hernia, Mesocardia, Short stature |
OMIM:136140 |
| Faciocardiomelic Syndrome |
|
Common atrium |
OMIM:612731 |
| Pallister-Hall Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Umbilic... |
ORPHA:672 |
| Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestive heart fail... |
OMIM:182250 |
| Cornelia De Lange Syndrome |
|
Ventricular septal defect, Short stature, Severe postnatal growth retardation, Delayed puberty, A... |
ORPHA:199 |
| Kabuki Syndrome 1 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Growth delay, Atrial sept... |
OMIM:147920 |
| Stickler Syndrome |
|
Short stature, Mitral valve prolapse |
ORPHA:828 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve... |
OMIM:312870 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:259770 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:363611 |
| Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Patent foramen ovale |
ORPHA:477993 |
| Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Postnatal growth retardation, Stillbirth, Atrial septal defect, Umbi... |
OMIM:304120 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Intrauterine growth retardation, Patent ductus arteriosus, Patent foramen ovale, Short stature |
OMIM:619841 |
| Keutel Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
| Pseudoaminopterin Syndrome |
|
Patent foramen ovale, Short stature |
ORPHA:221120 |
| Floating-Harbor Syndrome |
|
Short stature, Tetralogy of Fallot, Growth delay, Atrial septal defect, Mesocardia |
ORPHA:2044 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Short stature, Patent ductus arteriosus, Cardiomyopathy, Delayed puberty, Atrial septal defect |
ORPHA:480880 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Short stature, Growth delay, Neonatal death, Atrial septal defect, Umbilical hernia |
OMIM:308205 |
| Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
| Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Dilated cardiomyopathy, Severe ... |
OMIM:243800 |
| Digeorge Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Umbilical hernia, Truncus art... |
OMIM:188400 |
| Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Short stature, Mitral valve prolapse |
OMIM:130050 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect |
ORPHA:513456 |
| Sotos Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:821 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Hypoplastic left h... |
OMIM:619503 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:606170 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Obesity |
OMIM:614231 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Large for gestational age, Splenomegaly, Obesity, Hypertrophic cardio... |
ORPHA:116 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Delayed puberty |
OMIM:181450 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short stature, Secundum atrial septal defect, Subarterial ventricular septal defect, Growth delay... |
ORPHA:99646 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Umbilical hernia, Ventricular septal defect |
OMIM:620330 |
| Pallister-Killian Syndrome |
|
Ventricular septal defect, Rhizomelia, Mesomelic/rhizomelic limb shortening, Patent ductus arteri... |
OMIM:601803 |
| Neuroocular Syndrome |
|
Umbilical hernia, Patent foramen ovale, Short stature |
OMIM:619539 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Vascular Ehlers-Danlos Syndrome |
|
Umbilical hernia, Abnormal heart valve morphology, Short stature, Mitral valve prolapse |
ORPHA:286 |
| Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Growth delay, Cardiomyopathy, Birth length less than 3rd percentile, I... |
OMIM:216340 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Branchial anomaly, ... |
OMIM:164210 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Median cleft lip and palate |
ORPHA:95494 |
