Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immune Thrombocytopenia |
|
Platelet antibody positive, Thrombocytopenia |
OMIM:188030 |
Diamond-Blackfan Anemia 19 |
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Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Chronic ... |
OMIM:304790 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Autoinflammatory-Pancytopenia Syndrome |
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Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... |
OMIM:619858 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ... |
ORPHA:99931 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Systemic Lupus Erythematosus 16 |
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Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... |
OMIM:614420 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hepatomegaly, Pancytopenia, Hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, Autoimm... |
OMIM:614470 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... |
OMIM:615285 |
Thrombocytopenia 2 |
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Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Transient Erythroblastopenia Of Childhood |
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Transient erythroblastopenia, Anemia |
OMIM:227050 |
Thymoma |
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Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ... |
ORPHA:99867 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, F... |
ORPHA:79312 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... |
ORPHA:567544 |
Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Rheumatoid factor positive, Uveitis, Colitis, Thyroid carcinoma, Lymphocyto... |
ORPHA:3261 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Iron deficiency anemia, Platelet antibody positive, Increased B cell ... |
OMIM:603909 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth... |
OMIM:619644 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Leukopenia, Cardiomyopath... |
ORPHA:27 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ... |
ORPHA:289916 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
C3 Glomerulopathy 3 |
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Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Hemoglobin H Disease |
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Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytopenia, Syst... |
OMIM:301080 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... |
OMIM:618963 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Chronic diarrhea, Dilated cardiomy... |
OMIM:618805 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep... |
ORPHA:37042 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... |
OMIM:618935 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... |
OMIM:618999 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... |
OMIM:613779 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product... |
ORPHA:98826 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ... |
ORPHA:2137 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm... |
ORPHA:229717 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an... |
OMIM:616744 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophage... |
ORPHA:443811 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... |
ORPHA:1830 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti... |
OMIM:251000 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... |
ORPHA:100026 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Thrombocytopenia, ... |
OMIM:606054 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, An... |
ORPHA:858 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Systemic lupus eryth... |
OMIM:616871 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Hypothyroidism, Anemia, Arthritis |
ORPHA:1195 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnorm... |
ORPHA:1304 |
Immunodeficiency 27A |
|
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... |
OMIM:209950 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Aicardi-Goutieres Syndrome 3 |
|
Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... |
ORPHA:911 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Autoimmu... |
ORPHA:47612 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia |
OMIM:602079 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi... |
ORPHA:49041 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Lymphadenopathy, Colitis, Hemophagocytosis, Recurrent s... |
OMIM:613101 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... |
ORPHA:329918 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Diarrhea, Oliguria, Weight loss, Mu... |
ORPHA:188 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Conjunctivitis, Neutro... |
OMIM:616740 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Vomiting, Lupus anticoagulant, Nephritis, Pericardial effusion, Lymphadenop... |
ORPHA:93552 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Immunodeficiency 32B |
|
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... |
OMIM:226990 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Gray Platelet Syndrome |
|
Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ... |
ORPHA:536 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Antinuclear antibody p... |
OMIM:618048 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Antinuclear antibody positivity, Autoimmune antibody positivi... |
ORPHA:231111 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... |
OMIM:150550 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Skin rash, Splenomegaly, Thrombocytopenia, Secretory diarrhea, E... |
OMIM:616050 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Autoimmunity, Lymphocytosis, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Diarrhea, Leukopenia, Neutropenia, Failure to thrive, Thr... |
OMIM:229050 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Aut... |
ORPHA:275555 |
Rhabdoid Tumor |
|
Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Neoplasm of the liver, Anemi... |
ORPHA:69077 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Rheumatoid factor ... |
OMIM:615816 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... |
ORPHA:93126 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... |
OMIM:618495 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Weigh... |
ORPHA:507 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
Juvenile Arthritis |
|
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Babesiosis |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Splenomegaly, Jaundice, Hyperhidrosis, Leuko... |
ORPHA:108 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade... |
ORPHA:100024 |
Malaria |
|
Anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:673 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hemangiomatosis, Renal hypoplasia/aplasia, Visceral angiomatos... |
ORPHA:2123 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy... |
OMIM:301078 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Disproportionate tall stature, Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia |
OMIM:252270 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Atopic dermatit... |
OMIM:618624 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure ... |
OMIM:619151 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Autoimmunity, Splenomegaly, Thrombocytopenia, Abno... |
ORPHA:158061 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Mediastina... |
ORPHA:3392 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti... |
ORPHA:90060 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... |
OMIM:619523 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis... |
ORPHA:514 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Maculopapular exanthema, Skin rash, Aplastic anemia... |
ORPHA:398124 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... |
OMIM:618886 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:618116 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo... |
ORPHA:98850 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep... |
ORPHA:36234 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Autoimmune th... |
OMIM:301082 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosi... |
ORPHA:39041 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:470 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic anemia, ... |
OMIM:619487 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Cirrh... |
ORPHA:101028 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Eczema, Thrombocytopenia, Bronchiectasis, Leukopenia, Atrial septal de... |
OMIM:620184 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia |
OMIM:614493 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Thrombo... |
ORPHA:47 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi... |
ORPHA:400 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... |
OMIM:308240 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemi... |
ORPHA:331206 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Autoimmunity, Absence of lymp... |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto... |
OMIM:601859 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria... |
ORPHA:251004 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Nausea, Splenomegaly, Thrombocytopenia, Diarrhea, Oroticaciduria, Stage 5 chronic k... |
OMIM:222700 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Diarrhea, He... |
ORPHA:549 |
Non-Involuting Congenital Hemangioma |
|
Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera... |
ORPHA:141179 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Diarrhea, Hematuria, Microangiopathic hemolyti... |
ORPHA:54057 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Thrombocytopenia |
ORPHA:3327 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... |
OMIM:249270 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Cardiomyopathy, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ... |
ORPHA:318 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Nephronophthisis |
|
Renal insufficiency, Anemia |
ORPHA:655 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Anemia |
ORPHA:37748 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... |
OMIM:616414 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Recurrent pneumonia, Neutr... |
OMIM:617475 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Hepatic ste... |
OMIM:608709 |
Q Fever |
|
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... |
ORPHA:781 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl... |
OMIM:620321 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt... |
ORPHA:98849 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Lymphocyto... |
ORPHA:449395 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Hepatomegaly, Failure to thrive, Thrombocytopenia |
OMIM:614727 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Hepatitis, Increased body weight, Weight ... |
ORPHA:905 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Anhidrosis, Hemolytic anemia, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopath... |
ORPHA:169090 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Hypertrophic cardiomyo... |
OMIM:619386 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Diarrhea, Hypereosinophili... |
OMIM:615387 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Jaundice, Spinal cord tumor, Ovarian neoplasm, Weight l... |
ORPHA:370348 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Rapidly Involuting Congenital Hemangioma |
|
Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera... |
ORPHA:141184 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Hyperimidodipeptiduria, Splenomegaly, Thrombocytopenia, Recurrent pneumonia... |
OMIM:170100 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Diarrhea, Protracted diarrhea, Panniculiti... |
OMIM:615758 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... |
ORPHA:319218 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Imerslund-GrÀsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Congenital Pancreatic Cyst |
|
Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Tufted Angioma |
|
Thrombocytopenia, Hyperhidrosis, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial hema... |
ORPHA:1063 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome... |
OMIM:618348 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl... |
OMIM:614172 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Vomiting, Neutrophilia, Myelodysplasia, Leukoc... |
ORPHA:3260 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Lymphoma, Bronchiectasis, Lymphadenopathy, A... |
ORPHA:397596 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Ventricular septal defect, Splenomegaly, Jaundice, Thrombocytopenia, Atr... |
ORPHA:290 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Autoimmunity, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, ... |
ORPHA:98827 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Abnormality of the kidney, Impaired ADP-induced platelet aggregation,... |
OMIM:155100 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis, Anemia |
OMIM:617408 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytosis, Diarrhea, B... |
ORPHA:90038 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, Splenomegaly, Thrombocytopenia, ... |
OMIM:617591 |
Catastrophic Antiphospholipid Syndrome |
|
Antiphospholipid antibody positivity, Abnormal heart valve morphology, Abnormality of the kidney,... |
ORPHA:464343 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr... |
OMIM:619652 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Diarrhea, Weight loss, Leukopenia, Chronic otitis media, F... |
ORPHA:33355 |
Cach Syndrome |
|
Renal hypoplasia, Hepatosplenomegaly, Vomiting, Optic neuritis, Dysphagia, Pancreatitis |
ORPHA:135 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Vomiting... |
ORPHA:340 |
Immunodeficiency 10 |
|
Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Hypohidrosis, Thrombocytopenia |
OMIM:612783 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Small for gestational ag... |
OMIM:260400 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculit... |
OMIM:618398 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Recur... |
OMIM:617718 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... |
OMIM:145001 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... |
ORPHA:83469 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Vomiting, Abnormality... |
ORPHA:2552 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Ventricular septal defect, Small for gestational age, Hepatic melanin-like ... |
OMIM:208085 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormalit... |
ORPHA:36426 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Failure to thrive, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Sple... |
OMIM:278000 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Megaloblastic anemia, Diarrhea, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuc... |
OMIM:169400 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte... |
OMIM:612840 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Cachexia... |
ORPHA:77297 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Immunodeficiency 40 |
|
Hepatomegaly, Recurrent pneumonia, Chronic diarrhea, Eosinophilic granuloma, T lymphocytopenia, I... |
OMIM:616433 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... |
ORPHA:727 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe... |
ORPHA:169105 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh... |
ORPHA:139402 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... |
OMIM:232220 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical... |
ORPHA:2686 |
Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Leukopenia, Vomiting, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
Chylous Ascites |
|
Neoplasm, Pancreatitis |
ORPHA:1160 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Autoimmunity, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, ... |
OMIM:240500 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Relapsing Fever |
|
Neutrophilia, Thrombocytopenia, Leukocytosis, Jaundice, Diarrhea, Hematuria, Leukopenia, Abnormal... |
ORPHA:91547 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia,... |
ORPHA:537 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Thrombocytopenia, Dysphagia |
OMIM:619751 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop... |
OMIM:614520 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hemangioma, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Overlap Myositis |
|
Abnormality of the kidney, Autoimmunity, Antinuclear antibody positivity, Abnormal heart morpholo... |
ORPHA:206572 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Failure to thrive, Anemia |
ORPHA:28 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Cardiomyopathy, Dysp... |
OMIM:222300 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia |
ORPHA:100025 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Autoimmune antibody positivity, Reticulocytopenia, Anemia, Bone marrow hypocellular... |
ORPHA:88 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:567548 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A... |
OMIM:246400 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, A... |
OMIM:607115 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M... |
OMIM:606003 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia |
ORPHA:375 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Leukocytosis, Diarrhea, Lipid accumulation... |
ORPHA:20 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Failure to ... |
OMIM:269920 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Barrett esophagus, A... |
ORPHA:90291 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Chronic constipation, Nephrotic syndrome, Glomerula... |
OMIM:619428 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Functional abnormality of the bladder, T lymphocytopenia, ... |
ORPHA:391487 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr... |
OMIM:615952 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancr... |
ORPHA:2348 |
Boutonneuse Fever |
|
Renal insufficiency, Skin rash, Maculopapular exanthema, Diarrhea, Cervical lymphadenopathy, Lymp... |
ORPHA:83313 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Gastroesophageal reflux, Neutropenia... |
OMIM:614857 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... |
OMIM:601399 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Failure to thrive in infancy, Fluctuating hepatomegaly,... |
OMIM:610377 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Leukocytosis, Throm... |
ORPHA:292 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Diarrhea, Cholestasis, Perimembranous ventricular... |
OMIM:608104 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Diarrhea, C... |
ORPHA:90045 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... |
OMIM:603903 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly, Diarrhea, Lym... |
ORPHA:56425 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Dysphagia |
OMIM:618230 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t... |
OMIM:619281 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hepatomegaly, Autoimmunity, Keratitis, Splenomegaly, Thyrotoxicosis with diffuse go... |
ORPHA:525731 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... |
OMIM:614376 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirrhosis, Obesity, Neo... |
ORPHA:69663 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Lymphadenopathy... |
ORPHA:520 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... |
OMIM:617443 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Osteomyelitis, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Myocardial fibrosis, Hepatospleno... |
ORPHA:210136 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyr... |
ORPHA:79259 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Recurrent skin infections, Abnormal platelet aggregation |
OMIM:614171 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocyto... |
ORPHA:77259 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Atrial septal defect, Skin rash, Dextrocardia, Small for gestational ... |
OMIM:277380 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro... |
OMIM:619693 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Failure to thrive, Skin rash, Rheumatoid factor positive, Antiphospholipid... |
OMIM:615934 |
Shigellosis |
|
Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomiting, Nausea, Acute colitis, Absce... |
ORPHA:810 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Vomit... |
OMIM:557000 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Central hypothyroidism, Iron... |
ORPHA:1667 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H... |
OMIM:612541 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Mitral ... |
OMIM:612561 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... |
OMIM:600901 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... |
OMIM:613845 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Neutr... |
ORPHA:540 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Hemochromatosis, Type 3 |
|
Arthritis, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Myelodysplasia, Cryptorchidism, Thrombocytopenia... |
OMIM:617053 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, C... |
OMIM:614576 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Anuria, Pneumonia, Nausea, Myocarditis, Leukocytosis, Thrombocyt... |
ORPHA:544482 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... |
OMIM:227650 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Hyperphosphaturia... |
ORPHA:562 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... |
OMIM:612925 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic... |
ORPHA:51208 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Failure to thrive, Absence of lymph node germinal center, Splenom... |
OMIM:308230 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea... |
ORPHA:54251 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggregation, Giant platelets, M... |
OMIM:231200 |
Castleman Disease |
|
Intestinal obstruction, Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia,... |
ORPHA:160 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia |
OMIM:612952 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Squamous cell carcinoma of... |
OMIM:620365 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Myelodysplasia, Cryptorchidism,... |
OMIM:606593 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarc... |
ORPHA:171 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Diarrhea, Lymphadenopathy, ... |
ORPHA:79456 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopeni... |
OMIM:603467 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro... |
OMIM:617056 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612926 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Enlarged kidney, ... |
OMIM:617303 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis |
OMIM:620137 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... |
OMIM:619113 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Vomiting, Neutropenia, Fai... |
OMIM:251110 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Autoimmunity, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic ... |
OMIM:616005 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Poikilocytosis, Eleva... |
OMIM:615234 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 r... |
ORPHA:572 |
Erythrocytosis, Familial, 2 |
|
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Hemangioma, Failure to... |
OMIM:263400 |
Necrotizing Enterocolitis |
|
Small for gestational age, Leukocytosis, Peritonitis, Diarrhea, Bloody diarrhea, Abnormal heart m... |
ORPHA:391673 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Methioninuria, Mitral valve prolapse, Disproportionate tall stature, Failure to t... |
OMIM:236200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612924 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Intermittent diarrhea, Thrombocytopenia |
ORPHA:263501 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,... |
ORPHA:900 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... |
ORPHA:2035 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Chronic diarrhea, Dilated cardiomyopathy, Leuk... |
OMIM:613989 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Aortic valve s... |
OMIM:230800 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Ventricular septal def... |
OMIM:619525 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Neutropenia, Nephritis, Naus... |
ORPHA:73263 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Eczema, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukop... |
ORPHA:508542 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Increased body weight, Leukopenia, Nephritis, Enlarged ovaries, Enlarged polycyst... |
ORPHA:2298 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocyt... |
OMIM:267700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Hepatosplenomega... |
OMIM:603553 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Overweight, Recurrent pneumonia, Persistence of hemoglobin F, Gastroes... |
OMIM:619769 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect |
OMIM:223350 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Familial Mediterranean Fever |
|
Pericarditis, Intestinal obstruction, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthri... |
ORPHA:342 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... |
ORPHA:3202 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Weight loss, Arthritis, Inflammation of... |
OMIM:301074 |
Lesch-Nyhan Syndrome |
|
Anemia, Renal insufficiency, Hematuria, Gout |
ORPHA:510 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, ... |
ORPHA:90051 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Cryptorchidi... |
OMIM:617052 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Dilated c... |
ORPHA:79408 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Gastroesophageal refl... |
OMIM:614742 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pne... |
OMIM:127550 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, ... |
ORPHA:90033 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Atrial septal defect, Adenocar... |
ORPHA:124 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Anti-thyroid peroxidase a... |
OMIM:274300 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Diarrhea, Atopic dermatitis, Dysphagia, Weight los... |
ORPHA:2070 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Small for gestational age,... |
OMIM:227645 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ... |
ORPHA:158048 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn... |
OMIM:214500 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... |
OMIM:251100 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g... |
ORPHA:85450 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Abnorma... |
ORPHA:565612 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insufficiency, Steatorrhea,... |
ORPHA:75233 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Weight loss, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema |
ORPHA:79242 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Diffuse leiomyomatosis, Renal insufficiency, Glomerular basement membrane lam... |
OMIM:301050 |
Melas |
|
Hypoparathyroidism, Proteinuria, Diarrhea, Dilated cardiomyopathy, Concentric hypertrophic cardio... |
ORPHA:550 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Anemia, Neoplasm, Bone marrow hypocellularity, Failure to thrive, ... |
ORPHA:3322 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Diarrhea, Leukopenia, Thrombocytopenia |
ORPHA:99828 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Anemia |
ORPHA:2668 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... |
OMIM:233450 |
Platelet Disorder, Undefined |
|
Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm |
OMIM:173420 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia |
OMIM:212350 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral cand... |
ORPHA:275 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Increased T cell co... |
ORPHA:98813 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Nephrotic syndrome, Conj... |
ORPHA:575 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... |
OMIM:603585 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Thrombocytopenia, Dysphagia |
OMIM:615750 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Chronic constipation, Failure to thrive, Gastroesophageal reflux, Thrombocytopenia |
OMIM:616577 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Secretory diarrhea, Atrial septal defect, Atrioventricular canal defect, Hepa... |
OMIM:619573 |
Selective Igm Deficiency |
|
Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased ... |
ORPHA:331235 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Fai... |
OMIM:617941 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Weight loss, Cardiomyopathy, Constipation, Nephropathy, Abnormal renal ph... |
ORPHA:85447 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Microangiopath... |
OMIM:274150 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abscess, Abnormality of t... |
ORPHA:228123 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Bilateral cryptorchidi... |
OMIM:242900 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Biliary cirrhosis, Bronchiect... |
OMIM:219700 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Glome... |
ORPHA:117 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertension, Autoimmunity, Hyper... |
ORPHA:228426 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Retrobulbar ... |
ORPHA:1451 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Tempi Syndrome |
|
Hemangioma, Increased hematocrit, Polycythemia, Abnormality of the kidney |
ORPHA:284227 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Organic aciduria, Aspiration pneumonia, Failure to thrive, Pancreatitis |
ORPHA:431361 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... |
ORPHA:822 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... |
OMIM:227646 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating lutein... |
OMIM:617253 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Nausea, Renal ins... |
ORPHA:99826 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Conjunctivitis, Vomiting, Infect... |
ORPHA:448237 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Autoim... |
ORPHA:552 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Stomatitis, Cyclic neutropenia, Proteinuria, Chronic pancreati... |
OMIM:232240 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Small for gestational age, Pericardial effusion, Normochromic anemia, ... |
OMIM:618775 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis |
OMIM:606996 |
Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Azoospermia, Decreased mean corpuscul... |
ORPHA:300298 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Hemangioma, Thrombocytopen... |
OMIM:112200 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anis... |
OMIM:618278 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Imp... |
OMIM:608233 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis |
OMIM:238600 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Hemolyti... |
ORPHA:809 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Failure to thrive, Recurr... |
OMIM:230900 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... |
ORPHA:143 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Hyperhidrosis, Leukopenia, Hepatic hemangioma, Microangiopathi... |
ORPHA:2330 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Splenomegaly, Cardiomyopathy, Pro... |
OMIM:225750 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Argininosuccinic acidu... |
OMIM:603471 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Myocarditis, Splenomegaly, Thrombo... |
ORPHA:50918 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Neoplasm of the n... |
ORPHA:2869 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Acute colitis, Abnormal pericardium morphology, Lung absce... |
ORPHA:67 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Eosinophilia, Abnormality of the kidney, Keratitis, Retroperitoneal fibro... |
ORPHA:449563 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypothyroidism, Hepatic steatos... |
OMIM:615846 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphoma, Systemic ... |
ORPHA:90036 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Hepatocellular adenoma, ... |
ORPHA:264580 |
Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Diarrhea, Schistocytosis, Microangiopathic he... |
OMIM:235400 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, Chronic diarrhea, Dilated cardio... |
OMIM:615895 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi... |
OMIM:605309 |
Crimean-Congo Hemorrhagic Fever |
|
Hyperhidrosis, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutro... |
ORPHA:99827 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocy... |
OMIM:620072 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Failure to thrive, Patent foramen oval... |
OMIM:251290 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Gaisböck Syndrome |
|
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Nep... |
ORPHA:90041 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Anemia |
OMIM:620296 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Vomiting, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the th... |
ORPHA:83471 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Wiskott-Aldrich Syndrome |
|
Iron deficiency anemia, Inflammation of the large intestine, Nephropathy, Absent microvilli on th... |
OMIM:301000 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port... |
OMIM:615688 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Renal insufficiency, Increased body weight |
ORPHA:890 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod... |
ORPHA:244242 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Normocytic anemia, Failure to thrive, Splenomegaly, Chronic diarr... |
OMIM:300972 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... |
ORPHA:454831 |
Snakebite Envenomation |
|
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism, Acute kidne... |
ORPHA:449285 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decre... |
ORPHA:444490 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Lead Poisoning |
|
Skin rash, Small for gestational age, Chronic kidney disease, Imbalanced hemoglobin synthesis, Ab... |
ORPHA:330015 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Ventricular septal defect, Small for gestational age,... |
OMIM:301056 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Macrothrombocytopenia, Absence of ... |
OMIM:187900 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Large for gestational age, Cryptorchidism, Pulmo... |
OMIM:610733 |
Avian Influenza |
|
Pneumonia, Thrombocytopenia, Diarrhea, Hepatitis, Leukopenia, Conjunctivitis, Vomiting, Lymphopen... |
ORPHA:454836 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... |
OMIM:251880 |
Familial Adenomatous Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Autoimmunity, Lymphoma, Cardiomyopath... |
ORPHA:79086 |
Acquired Purpura Fulminans |
|
Neoplasm, Skin rash, Thrombocytopenia |
ORPHA:49566 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ganglioneuroblastoma, Diarrhea, Elevated urinary dopamine l... |
OMIM:256700 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... |
ORPHA:85414 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Abnormality of thrombocytes, Anemia |
ORPHA:3204 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, C... |
ORPHA:26791 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Microcytic anemia, Cryptorchidism, Failure to thrive, HbH hemoglobin |
ORPHA:98791 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Nephrolithiasis, Gout, Focal seg... |
OMIM:232200 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... |
ORPHA:99880 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Failure to thrive in infancy, Hypospadias, Hemolytic-uremic syndrome, Crypto... |
OMIM:611209 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Skin rash, Maculopapular exanthema, Microscopic hematuria, Myocarditis, Fulm... |
ORPHA:319213 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Truncal obesity, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
Citrullinemia Type Ii |
|
Hepatomegaly, Decreased body mass index, Diarrhea, Enuresis, Hepatic fibrosis, Vomiting, Hepatoce... |
ORPHA:247585 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia |
OMIM:619980 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Atopic dermatitis, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia |
ORPHA:3240 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Alg8-Cdg |
|
Small for gestational age, Diarrhea, Anemia, Vomiting, Failure to thrive, Thrombocytopenia |
ORPHA:79325 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypothyroidism, Pancreatitis, Dysphagia |
ORPHA:412057 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... |
OMIM:254900 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Splenomegaly, M... |
ORPHA:829 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hypertrophic car... |
OMIM:611126 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Left atrial enlargement, Autoimmunity, Myocarditis, Dilated ca... |
ORPHA:563 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Nephrolithiasis, Ventric... |
OMIM:269700 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Abnormality of the kidney, Obesity, Hypoplastic left heart, Polysplenia, Failure to thrive, Facia... |
OMIM:610543 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Pericardial effusion, Hepatosplenomegaly, Abnor... |
ORPHA:464329 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Asymmetri... |
OMIM:252920 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Anuria, Renal insufficiency, Hematemesis, Pancreatic... |
ORPHA:99829 |
Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... |
ORPHA:542643 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Anemia, Seborrheic dermatitis |
OMIM:121270 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Lymphoma, Acute le... |
ORPHA:99812 |
Spondyloenchondrodysplasia |
|
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response ... |
ORPHA:1855 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... |
ORPHA:77261 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Decreased body w... |
OMIM:608013 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Diarrhea, Hepatocellular adenoma, Increased body weight, Renal tubula... |
ORPHA:79240 |
Oslam Syndrome |
|
Neoplasm, Anemia, Osteosarcoma |
OMIM:165660 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia |
ORPHA:3002 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Arthritis, P... |
ORPHA:247353 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Gastroparesi... |
ORPHA:85443 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct antiglobulin ... |
ORPHA:71275 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper... |
ORPHA:974 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Vomiting, Pancreatitis |
OMIM:248600 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Glioma, Recurrent urinary tract infections, Rhabdomyosarc... |
OMIM:251260 |
Dermatitis Herpetiformis |
|
Autoimmunity, Eczema, Microcytic anemia |
ORPHA:1656 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... |
OMIM:614946 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... |
OMIM:300755 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Hepatomegaly, Abnormal renal corticomedullary differentiation, Thr... |
OMIM:617397 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Primary hyperparathyroidis... |
OMIM:145981 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, H... |
ORPHA:85408 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic diarrhea, Recurrent pancreatitis, ... |
OMIM:618268 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegal... |
ORPHA:79277 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Chronic constipation, Atrial se... |
ORPHA:79330 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, Ca... |
OMIM:212140 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Increased body weight, Constipation, Gastroesophageal reflux, Recurrent otitis media |
ORPHA:589905 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Peri... |
ORPHA:167 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Lymphadenitis, Splenomegaly, Leukocytosis, Chronic diarrhea, Diarrhea, H... |
OMIM:260920 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Failure to thrive, He... |
ORPHA:99901 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Met... |
OMIM:250790 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Panniculitis, Cystic acne, Acne inversa, Anemia |
OMIM:608068 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Myelodysplasia, Congenital hypo... |
OMIM:105650 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexi... |
ORPHA:647 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Leukocytosis, Chronic diarrhea, Diarrhea, ... |
OMIM:617099 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ... |
ORPHA:33577 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Parathyroid adenoma, Pancrea... |
OMIM:145980 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Nausea, Jaundice, Weight loss, Chronic calcifying pancreatitis, Vomiti... |
ORPHA:103918 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Diarrhea, Ventricular septal hypertrophy, Hypohidrosis, Urinary... |
OMIM:301500 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol... |
ORPHA:261250 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Eczema, Thrombocytopenia |
ORPHA:96181 |
Dyskeratosis Congenita, X-Linked |
|
Oropharyngeal squamous cell carcinoma, Hyperhidrosis, Squamous cell carcinoma, Leukopenia, Conjun... |
OMIM:305000 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Chronic diarrhea, Hepatospleno... |
ORPHA:333 |
Wilson Disease |
|
Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hem... |
OMIM:277900 |
Adult Acute Respiratory Distress Syndrome |
|
Pancreatitis, Pneumonia |
ORPHA:70578 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Obesity, Cholestas... |
OMIM:615630 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Enlarged kidney, Hepatosplenomegaly, Anemia, Leu... |
ORPHA:505248 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Vomiting, Lympho... |
OMIM:619991 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Dysbetalipoproteinemia |
|
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Renal steatosis, Obesity, Gout, Hypothyroidism |
ORPHA:412 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,... |
OMIM:613990 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... |
OMIM:259720 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Diar... |
OMIM:249100 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Bilateral cryptorchidism, Obesity, Atrial septal defect, Micropenis, Pancreatitis |
OMIM:619471 |
Holocarboxylase Synthetase Deficiency |
|
Skin rash, Organic aciduria, Vomiting, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyi... |
OMIM:253270 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... |
OMIM:620005 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Thrombocytopeni... |
ORPHA:1775 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Constipation, Organic a... |
OMIM:619743 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc... |
ORPHA:567546 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Malformation of the hepatic ductal plate, Portal hyp... |
ORPHA:84081 |
Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Retroperitoneal fibrosis, Cytoplasmic antineutrophil antibody positivity,... |
ORPHA:79078 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Left ventricular hypertrophy, ... |
ORPHA:31150 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Azoospermia, Cardiomyopathy, Cirrhosis, Hepatocellular ... |
OMIM:235200 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Hyperhidrosis |
OMIM:613576 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Vesi... |
OMIM:301068 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Large for gestational age, Leiomyosarcoma, Neoplasm, Hepatobl... |
ORPHA:116 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... |
ORPHA:447 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Malt Lymphoma |
|
B-cell lymphoma, Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss, Lymphadenopathy, Consti... |
ORPHA:52417 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Renal Hypoplasia, Bilateral |
|
Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chronic kidney dis... |
ORPHA:97362 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Proximal renal tubular acidosis, Nephrolithiasis, L... |
ORPHA:2785 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Pa... |
OMIM:276700 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... |
OMIM:608203 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... |
ORPHA:46059 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Proteinuria, Large for gestational age, Diarrhea, Increased body weight, Hyperhidro... |
ORPHA:263455 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Increased body weight, Hyperhidrosis |
ORPHA:276608 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Non... |
OMIM:611881 |
Abcd Syndrome |
|
Polycythemia, Large for gestational age |
OMIM:600501 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Disseminated cutaneous warts, Pericardial effusion, Chronic diarrhea, Weight... |
ORPHA:90362 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Bloody diarrhea, Hyperhidrosis, Tubulointerstitial nephritis, He... |
ORPHA:90068 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Cryptorchidism, Chronic diarrhea, Chronic const... |
OMIM:619005 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Failure to thrive in infancy, Anemia, Recurrent otitis media, Thrombocytopenia |
ORPHA:261323 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal pericar... |
ORPHA:284 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... |
ORPHA:293173 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Per... |
ORPHA:32960 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Leukocytosis, Hyperhidrosis, Decreased body weight, Nausea |
ORPHA:51890 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ... |
ORPHA:79282 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, Cardiomyopathy, Cirrhosis, Hepat... |
OMIM:608594 |
Deeah Syndrome |
|
Hepatomegaly, Decreased hemoglobin concentration, Decreased response to growth hormone stimulatio... |
OMIM:619004 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Constipation, Gastroesophageal reflux |
ORPHA:3137 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, A... |
ORPHA:465508 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Hepatic steatosis, Thr... |
OMIM:616271 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Oroticaciduria, Anisopoikilocytosis, Renal tubular acid... |
OMIM:616457 |
Sarcoidosis |
|
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypo... |
ORPHA:797 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cachexia, Cardiomega... |
ORPHA:42 |
Acquired Methemoglobinemia |
|
Methemoglobinemia, Vomiting |
ORPHA:464453 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Gastrointestinal stroma tumor, Es... |
ORPHA:44890 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Leukocytosis, Weight loss, ... |
ORPHA:764 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia |
ORPHA:178320 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Cholelithiasis... |
OMIM:263700 |
Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Vomiting, Intractable diarrhea... |
OMIM:619381 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Axial malrotatio... |
ORPHA:3320 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Diarrhea... |
ORPHA:139411 |
Rift Valley Fever |
|
Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Melena, Hematuria, Infect... |
ORPHA:319251 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ... |
ORPHA:847 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhea, Bronchiectasis, Choles... |
OMIM:620233 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Ventricular septal defect, Eosinophilia, Seborrheic derm... |
OMIM:274000 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Renal agenesis, Aplastic anemia, Micropenis, Thrombocytopenia |
OMIM:300514 |
Visceral Myopathy 1 |
|
Gastroparesis, Diarrhea, Megacystis, Hydronephrosis, Constipation, Vomiting, Urinary retention, D... |
OMIM:155310 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimu... |
OMIM:602782 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Keratoconjunctivitis sicca, Anemia |
OMIM:620370 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
Mirizzi Syndrome |
|
Dark urine, Nausea, Pancreatitis, Jaundice, Cholesterol gallstones, Vomiting, Cholelithiasis, Abn... |
ORPHA:521219 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hypothyroidism, Cholestasis, Aminoaciduria, Hepatic fibrosis, Vomiting, Cirrhosis, ... |
OMIM:615486 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the kidney, Hematemesis, Abnormal renal cortex morpho... |
ORPHA:464321 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Cryptorchidism, Abnormal ... |
OMIM:616737 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... |
ORPHA:1467 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir... |
OMIM:301072 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced my... |
OMIM:201475 |
Adiposis Dolorosa |
|
Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation, ... |
ORPHA:36397 |
Hydatidiform Mole |
|
Hyperthyroidism, Anemia |
ORPHA:99927 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Cryptorchidism, Reduced alpha/beta synthe... |
OMIM:301040 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma |
OMIM:253250 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Neoplasm, Atrial septal defect, Hypospadias, Myelodysplasia... |
ORPHA:84 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Gastroesophageal reflux, Atrial septal defect, Chronic otitis media, Ve... |
ORPHA:567 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Mitral valve calcification, Abnormal pericardium morph... |
ORPHA:355 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Failu... |
OMIM:614702 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Nausea, Antinu... |
ORPHA:91355 |
Alg12-Cdg |
|
Hypospadias, Cryptorchidism, Muscular ventricular septal defect, Recurrent pneumonia, Biventricul... |
ORPHA:79324 |
Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Chronic diarrhea, Hepatosplenomegaly, Hypohidro... |
OMIM:268800 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Hepatomegaly, Microcytic anemia, Erythema nodosum, Splenomegaly, Thrombocytopenia, ... |
OMIM:256040 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... |
OMIM:167800 |
Aicardi-GoutiĂšres Syndrome |
|
Enchondroma, Myositis, Chilblains, Autoimmunity, Neonatal alloimmune thrombocytopenia, Cardiomega... |
ORPHA:51 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Ectopic kidney, Reticulocytopenia, Steroid-responsi... |
OMIM:613309 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Anemia, Capillary hem... |
ORPHA:163979 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Hematuria, Melena, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Smith-Magenis Syndrome |
|
Abnormal renal morphology, Increased body weight, Abnormal heart morphology, Abnormality of the u... |
OMIM:182290 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Eczema, Abnormality of neutrophils, Cryptorchidism, Thrombocytop... |
ORPHA:235 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Anemia, Decreased urinary potassium |
OMIM:611489 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Vomiting, Macrovesicular hepatic steatosis |
OMIM:600649 |
Neuroleptic Malignant Syndrome |
|
Proteinuria, Urinary incontinence, Leukocytosis, Hyperhidrosis, Vomiting, Aspiration pneumonia, D... |
ORPHA:94093 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen... |
OMIM:266900 |
Sandifer Syndrome |
|
Hematemesis, Gastroesophageal reflux, Esophagitis, Episodic vomiting, Anemia |
ORPHA:71272 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Vomiting, Dysphagia, Myelitis, Abnormal myocardium morphology, Nausea, ... |
ORPHA:297 |
Urachal Cyst |
|
Abscess, Dysuria, Pyuria, Leukocytosis, Peritonitis, Urachus fistula, Hematuria, Neoplasm |
ORPHA:488 |
Multiple Myeloma |
|
Splenomegaly, Weight loss, Anemia, Nephrotic syndrome, Abnormality of the bladder, Lymphadenopath... |
ORPHA:29073 |
Cantu Syndrome |
|
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... |
OMIM:239850 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Increased body weight, Ne... |
ORPHA:97279 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Fucosidosis |
|
Hepatomegaly, Anhidrosis, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Ol... |
OMIM:230000 |
Atelis Syndrome 2 |
|
Supravalvar pulmonary stenosis, Anemia, Gastroesophageal reflux, Pulmonic stenosis, Thrombocytopenia |
OMIM:620185 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Constipation, Thrombocytopenia |
ORPHA:457351 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Diarrhea, Renal tubular acidosis, Hepatic stea... |
OMIM:255120 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... |
OMIM:618213 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Hypothyroidism, Chronic diarrhea, Ke... |
ORPHA:14 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno... |
ORPHA:77293 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent f... |
OMIM:601005 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Mitral valve calcification, Cachexia, Abnormality of the spleen, Splenomegaly, Thro... |
ORPHA:2072 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Partially duplicated kidney, Hematemesis, Decreased platelet glycopr... |
ORPHA:274 |
Ivic Syndrome |
|
Leukocytosis, Tetralogy of Fallot, Thrombocytopenia |
OMIM:147750 |
Digeorge Syndrome |
|
Hypoplasia of the thymus, Gastroesophageal reflux, Hypothyroidism, Hepatic steatosis, Acne, Obesi... |
OMIM:188400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Gastroes... |
ORPHA:534 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Pneumonia, Hypospadias, Ectopic kidney, Proteinuria, Cryptorchidism, A... |
OMIM:122470 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Obesity, Right ventricular dil... |
ORPHA:70591 |
Blue Diaper Syndrome |
|
Diarrhea, Increased body weight, Nephrocalcinosis, Blue urine, Decreased circulating T4 concentra... |
ORPHA:94086 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Hyperhidrosis, Mucopolysacchariduria,... |
ORPHA:349 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
Chops Syndrome |
|
Gastroparesis, Ventricular septal defect, Splenomegaly, Cryptorchidism, Obesity, Anomalous pulmon... |
OMIM:616368 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Pituitary hypothyroidism, Decreased testicul... |
ORPHA:66628 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Autoimmunity, He... |
ORPHA:436252 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial septal defect, Annular pancreas, F... |
OMIM:147791 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Muscular ventricular septal... |
OMIM:117550 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Obesity |
OMIM:618620 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Thrombocytopenia, Dysphagia |
ORPHA:572798 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Intestinal bleeding, Bone marrow hypocellularity, Anemia |
OMIM:612199 |
Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hype... |
OMIM:616897 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... |
ORPHA:79644 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Abnormal heart valve morphology, Proteinuria, Myocarditis, Jaundice, Leu... |
ORPHA:2331 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... |
ORPHA:228308 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Adrenocortical carcinoma, Adrenocorticotropic hormone deficienc... |
ORPHA:1501 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Eczema, Cryptorchidism, Constipation, Ao... |
ORPHA:2308 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Hyp... |
OMIM:617713 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in ... |
ORPHA:391428 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Diarrhea, Hepatitis, Uve... |
ORPHA:509 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Chronic diarrhea... |
OMIM:614921 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Acne, Pituitary adenoma, Primary hyperparathyroidism, Increased... |
ORPHA:189427 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphology, Cardiomyopathy, H... |
ORPHA:98907 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... |
ORPHA:90340 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Adrenocortical carcinoma, Ves... |
OMIM:130650 |
Fibular Hemimelia |
|
Renal dysplasia, Thrombocytopenia, Abnormal heart morphology |
ORPHA:93323 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Chronic pancreatitis, Obesity, Cardiomyopathy, Cholecystitis, Hepatic steatosis |
ORPHA:98908 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Hematochezia, Duodenal adenocarcinoma, Failure to thrive, Anemia |
OMIM:174900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... |
ORPHA:99889 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... |
ORPHA:363705 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Ventricular septal defect, Large for gestational age, R... |
OMIM:617107 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Increased body weight, Horseshoe kidney |
OMIM:300860 |
Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Obesity, Gonadoblastoma, Nephropathy, Nephrobla... |
OMIM:194072 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal heart morphology... |
ORPHA:487796 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Autoimmune antibody positivity, Pituitar... |
ORPHA:99832 |
Scorpion Envenomation |
|
Acute pancreatitis, Ketonuria, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting, Glycosuria, Acute ... |
ORPHA:466677 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
OMIM:151660 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Increased circulating cortisol level, Increased body weight, Ab... |
OMIM:615954 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly |
OMIM:613320 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Cushing Disease |
|
Increased urinary cortisol level, Acne, Pituitary corticotropic cell adenoma, Leukocytosis, Incre... |
ORPHA:96253 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Cryptorchidism, Xerostomia, Increased body weight, Central hypothyroidism, Chronic constipation, ... |
ORPHA:398069 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Acne, Increased body weight |
OMIM:615830 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Adre... |
OMIM:307030 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting |
OMIM:105210 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Fa... |
OMIM:163950 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Skin rash, Jaundice, Diarrhea, Hepatitis, Hepatic necrosis, Hepatoce... |
ORPHA:90062 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Increased body weight |
ORPHA:64745 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... |
ORPHA:500095 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormal mitral valve morphology, Cardiomegaly, Abnormal myocardium morphology, Spl... |
ORPHA:581 |
Carney Complex |
|
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Cavernous hemangioma, Mucopolysacc... |
OMIM:252500 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
Perlman Syndrome |
|
Nephrogenic rest, Renal hamartoma, Large for gestational age, Cryptorchidism, Nephroblastomatosis... |
OMIM:267000 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Intestinal obstruction, Small for gestational age, Visceral angi... |
ORPHA:666 |
Exercise-Induced Malignant Hyperthermia |
|
Anhidrosis, Oliguria, Vomiting, Acute kidney injury, Nausea, Thrombocytopenia |
ORPHA:466650 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Polyuria, Diarrhea, Recurrent pancreatitis, Vomiting, Dysphagia, Failu... |
OMIM:606721 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
Roberts Syndrome |
|
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Midface capillary hemangioma, Thrombocyt... |
ORPHA:3103 |
Bohring-Opitz Syndrome |
|
Nephroblastoma, Cardiomegaly, Medulloblastoma, Abnormal cardiac septum morphology, Vomiting, Urin... |
ORPHA:97297 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Disproportionate tall stature, Tall stature, Cardiomegaly |
ORPHA:2463 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonar... |
ORPHA:95430 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Mitral valve prolapse, Hematochezia, Hamartomatous polyposis... |
OMIM:175050 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Constipation, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Cardiomegaly, Right ventricular hypertrophy, Dysphagia |
ORPHA:268 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
CantĂș Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Vomiting, Failure to thrive |
ORPHA:137675 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Bowel incontinence, Cardiomegaly, Oligosacchariduria, Dysphagia, Left ventricular h... |
ORPHA:365 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... |
ORPHA:904 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal heart morphology, Abnormal cardiac se... |
ORPHA:980 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Lethal Acantholytic Erosive Disorder |
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Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Tall stature, Cardiomegaly |
ORPHA:91387 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism |
ORPHA:96191 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Hyperphosphaturia, Failure to thrive in infancy, Cardiomegaly, Pericardi... |
ORPHA:51608 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |