| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respir... |
ORPHA:444463 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation |
OMIM:613737 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Abdominal pain, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Immunodeficiency 53 |
|
Recurrent pneumonia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis medi... |
OMIM:617585 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Papa Syndrome |
|
Crohn's disease, Increased inflammatory response, Myositis, Pustule, Proteinuria, Lymphadenopathy... |
ORPHA:69126 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
| Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Muscular dystrophy, Lower limb muscle weakness, Myositis, Eosinophilia, Proximal amyotrophy, Scap... |
OMIM:253600 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement, Proteinu... |
OMIM:617006 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... |
ORPHA:567544 |
| Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Elevated ci... |
ORPHA:39812 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ... |
OMIM:613495 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, Failure to thrive, Hepatosplenomeg... |
OMIM:619858 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Histiocytosis, Skin rash |
ORPHA:157997 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
| Congenital Pancreatic Cyst |
|
Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice |
ORPHA:313906 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Diarrhea, Oliguria, Leukocytosis, Renal insufficiency, Arrhythmia, Weight loss, Panc... |
ORPHA:188 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy,... |
OMIM:142680 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis |
OMIM:247800 |
| Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, Weight loss, A... |
ORPHA:3165 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Diarrhea, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pus... |
ORPHA:31205 |
| C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... |
OMIM:618999 |
| Scrub Typhus |
|
Hypotension, Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Nausea and vo... |
ORPHA:83317 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... |
ORPHA:206569 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Hypotension, Diarrhea, Hepatitis, Lymphopenia, Renal insufficiency, ... |
ORPHA:549 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
| American Trypanosomiasis |
|
Diarrhea, Cardiomyopathy, Congestive heart failure, Skin rash, Splenomegaly, Infectious encephali... |
ORPHA:3386 |
| Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Hematuria, Weight loss, Tubulointerstitial nephritis... |
ORPHA:183 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
| Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... |
ORPHA:829 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 104 |
|
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ... |
OMIM:608971 |
| Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Failure to thrive sec... |
ORPHA:169160 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... |
OMIM:615285 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
| Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... |
OMIM:617514 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Rhabdomyolysis, Anorexia, Abdominal p... |
ORPHA:810 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Biliary atresia, Myositis, Calf... |
ORPHA:565899 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... |
OMIM:308230 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... |
OMIM:267500 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... |
OMIM:617591 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abscess, Granuloma, Eczematoid dermatitis, Pleura... |
OMIM:618935 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Eczematoid dermatitis, Hepatitis, Decreased FOXP3-expressing T cell count, Ile... |
OMIM:304790 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Failure to thrive |
OMIM:614372 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Pediatric Systemic Lupus Erythematosus |
|
Diarrhea, Microangiopathic hemolytic anemia, Lymphopenia, Dark urine, Hematuria, Abdominal disten... |
ORPHA:93552 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... |
OMIM:613779 |
| Whipple Disease |
|
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Hypotension, Anorexia, Malabsorption, Splenomegal... |
ORPHA:3452 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancr... |
OMIM:618805 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Cardiomyopathy, Anorexia, Renal insufficiency, Splenomegaly, Nausea and vomiti... |
ORPHA:79312 |
| Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
| Myositis |
|
Myositis |
OMIM:160750 |
| Mixed Connective Tissue Disease |
|
Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Hemoly... |
ORPHA:809 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Abnormal lung morphology, Sepsis, Hepatitis, Failure to thrive, Osteomyeliti... |
ORPHA:47 |
| Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Shock, Oste... |
ORPHA:36234 |
| Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... |
OMIM:152700 |
| Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Nausea... |
ORPHA:402823 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Recurrent candida ... |
OMIM:269840 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Failure to thrive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, F... |
OMIM:615934 |
| Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... |
ORPHA:2552 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antineutrophil antibody positivity, Eosinophilia, Platelet antibody positive, Reduced delayed hyp... |
OMIM:601859 |
| Q Fever |
|
Hepatosplenomegaly, Hematuria, Weight loss, Anorexia, Hepatomegaly, Endocarditis, Vasculitis, Ost... |
ORPHA:781 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne... |
OMIM:615401 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, He... |
OMIM:619183 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure, Dysphagia |
ORPHA:2724 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... |
OMIM:612840 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hemophagocytosis, Skin rash, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, ... |
OMIM:603552 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... |
OMIM:607594 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe... |
ORPHA:277 |
| Congenital Enterovirus Infection |
|
Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, A... |
ORPHA:292 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia |
ORPHA:48104 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Incre... |
OMIM:619644 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... |
OMIM:301082 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Anemia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly, Growth delay |
ORPHA:289916 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:572 |
| Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... |
ORPHA:79147 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Xerostomia, Skin rash, Myositis, Keratoconjunctivitis sicca, Pulmonary arte... |
ORPHA:81 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vasculitis, Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin ... |
ORPHA:32960 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m... |
OMIM:613101 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Anemia, Decreased acid sphingomyelinase activity, Thrombocy... |
OMIM:607616 |
| Rheumatic Fever |
|
Epistaxis, Anorexia, Abnormal heart valve morphology, Nausea and vomiting, Abnormal mitral valve ... |
ORPHA:3099 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
| Felty Syndrome |
|
Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, A... |
ORPHA:47612 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Gastrointestinal hemorrhage, Elevated circulating hepatic tr... |
ORPHA:2137 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... |
OMIM:300988 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Eczematoid dermatitis, Hepatitis, ... |
OMIM:620565 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Anorexia, Elevated circulating aspartate aminotransferase concentration, Adrenal i... |
OMIM:619386 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Lymphopenia, Hepatos... |
ORPHA:331206 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM |
OMIM:606445 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
| Macrophage Activation Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, H... |
ORPHA:158061 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin... |
ORPHA:397596 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Sepsis, Failure to thrive, Recurrent respiratory infections, Abnormal lymphocyte morph... |
ORPHA:229717 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Recurrent otit... |
OMIM:300853 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Hepatomegal... |
OMIM:243300 |
| Immunodeficiency 32B |
|
Pneumonia, Neutrophilia, Recurrent infections, Failure to thrive, Impaired oxidative burst, Abnor... |
OMIM:226990 |
| Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Glycosuria, Primary adrenal insufficiency, Myositis, Hashimoto t... |
ORPHA:589 |
| Immunodeficiency, Common Variable, 11 |
|
Abnormal T cell count, Inflammation of the large intestine, Failure to thrive, Mucoid diarrhea, C... |
OMIM:615767 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Congenital Syphilis |
|
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ... |
ORPHA:499009 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Hypertension |
ORPHA:79084 |
| Microscopic Polyangiitis |
|
Diarrhea, Nausea and vomiting, Hematuria, Arrhythmia, Abdominal pain, Vasculitis, Gastrointestina... |
ORPHA:727 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Acute kidney injury, Oliguria, Increased circulating lac... |
ORPHA:99845 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
| Omenn Syndrome |
|
Pneumonia, Severe B lymphocytopenia, Recurrent viral infections, Failure to thrive, Splenomegaly,... |
OMIM:603554 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| C1Q Deficiency 3 |
|
Discoid lupus rash |
OMIM:620322 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Leukopenia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Hepatomegaly |
ORPHA:27 |
| Autosomal Agammaglobulinemia |
|
Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Failure to thrive, Osteomyelitis, Skin r... |
ORPHA:33110 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the gastroint... |
ORPHA:99867 |
| Complement Component 4B Deficiency |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... |
OMIM:614379 |
| Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... |
ORPHA:73263 |
| Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... |
OMIM:608709 |
| Propionic Acidemia |
|
Hyperglycinuria, Vomiting, Failure to thrive, Eczematoid dermatitis, Increased level of hippuric ... |
OMIM:606054 |
| Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu... |
OMIM:613501 |
| Pyomyositis |
|
Testicular teratoma, Leukocytosis, Renal insufficiency, Myositis, Weight loss, Sudden cardiac dea... |
ORPHA:764 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... |
ORPHA:381 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
| Lujo Hemorrhagic Fever |
|
Diarrhea, Lymphopenia, Dysphagia, Increased circulating lactate dehydrogenase concentration, Shoc... |
ORPHA:319213 |
| Behçet Disease |
|
Nausea and vomiting, Mitral regurgitation, Weight loss, Anorexia, Abdominal pain, Endocarditis, A... |
ORPHA:117 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari synd... |
OMIM:127550 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Chronic otitis media, Eczematoid dermatitis, Recurrent candida infections,... |
ORPHA:83471 |
| Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia,... |
OMIM:620603 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane... |
OMIM:618116 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... |
OMIM:278000 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Dilated cardiomyopathy, Acne inversa, Predominantly dermal n... |
ORPHA:3243 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C... |
OMIM:607271 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Palpitations, Abdominal pain |
OMIM:619290 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... |
OMIM:618986 |
| Systemic Sclerosis |
|
Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Abnormality of t... |
ORPHA:90291 |
| Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ... |
ORPHA:507 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep... |
OMIM:613812 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... |
OMIM:269600 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Chilblains, Thromboc... |
OMIM:610329 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Abdominal colic, Elevated circulatin... |
ORPHA:69663 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m... |
ORPHA:464343 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Pos... |
OMIM:620210 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... |
OMIM:619220 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... |
OMIM:619824 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... |
ORPHA:822 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu... |
OMIM:300400 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... |
OMIM:618204 |
| Yao Syndrome |
|
Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Ski... |
OMIM:617321 |
| Aicardi-Goutieres Syndrome 6 |
|
Intrauterine growth retardation, Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemoly... |
OMIM:615010 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... |
ORPHA:848 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... |
OMIM:603909 |
| Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Pers... |
ORPHA:231226 |
| Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate |
ORPHA:90283 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... |
OMIM:616433 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Intrauterine growth retardation, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Babesiosis |
|
Hepatic failure, Congestive heart failure, Leukopenia, Splenomegaly, Hyperhidrosis, Thrombocytope... |
ORPHA:108 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... |
OMIM:602450 |
| Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Hyperte... |
OMIM:189800 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Lymphopenia, Disproportionate short-trunk short stature, Neutr... |
ORPHA:1830 |
| Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating IgG level, Recurrent upper respirat... |
OMIM:618459 |
| Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Failure to thrive, Reduced natura... |
OMIM:616050 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Intrahepatic cholestasis, Diarrhea, Hepatic failure, Failure to thrive, Ele... |
OMIM:607765 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
ORPHA:169154 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent infections, Herpes simplex encephalitis, Recurrent otitis media, Increased circulating ... |
OMIM:618982 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... |
ORPHA:79124 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Short sta... |
OMIM:616022 |
| Listeriosis |
|
Arteritis, Diarrhea, Rhabdomyolysis, Pustule, Jaundice, Abdominal pain, Endocarditis, Acute kidne... |
ORPHA:533 |
| Immunodeficiency 69 |
|
Diarrhea, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp... |
OMIM:618963 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Dysphagia |
OMIM:618230 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Parakeratosis, Arrhythmia, Neutropenia, Hepatomegaly, Hyperkeratos... |
ORPHA:398124 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Abdominal pain, Vomiting, Pancreatitis |
OMIM:620137 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,... |
OMIM:300755 |
| Relapsing Polychondritis |
|
Uveitis, Large vessel vasculitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis... |
ORPHA:728 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... |
ORPHA:276 |
| Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... |
ORPHA:294 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... |
OMIM:145001 |
| Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis |
OMIM:614380 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Diarrhea, Vomiting, Failure to thrive, Methylmalonic aciduria, Cardiomyopathy, Leukopenia, Stage ... |
OMIM:251000 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato... |
OMIM:609628 |
| Immunodeficiency 27A |
|
Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increa... |
OMIM:209950 |
| Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating IgE level... |
OMIM:102700 |
| Crimean-Congo Hemorrhagic Fever |
|
Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Retinal hemorrhage, Hematuria, Er... |
ORPHA:99827 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis... |
ORPHA:93672 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Elevated gamma-glutamyltransferase level, Ovarian cyst, Elevated circulating ... |
ORPHA:400 |
| Fusariosis |
|
Pneumonia, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia, Osteomyelitis, Abnormali... |
ORPHA:228119 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... |
OMIM:614493 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Cardiac shunt, Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... |
ORPHA:75566 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Weight loss, L... |
ORPHA:100024 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Sepsis, Hepatitis, Lymphopenia, Leukopenia, Increased circulating an... |
ORPHA:319218 |
| Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomegaly, Vascul... |
ORPHA:50918 |
| Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... |
OMIM:242700 |
| Caroli Syndrome |
|
Hypersplenism, Congenital hepatic fibrosis, Elevated circulating alkaline phosphatase concentrati... |
ORPHA:480520 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Congenital pulmonary airway malformation, Lymphopenia, Intrauterine growth retardat... |
OMIM:243150 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... |
OMIM:240500 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Periodontitis, Sepsis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutr... |
ORPHA:2686 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis |
OMIM:616414 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:618495 |
| Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Hepatosplenomegaly, Chilblains, Hepatic steatosis, Weight... |
OMIM:619487 |
| Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Intracranial hemorrhage,... |
ORPHA:3226 |
| Melioidosis |
|
Pneumonia, Unusual skin infection, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, A... |
ORPHA:31202 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Growth delay, Lymp... |
OMIM:616005 |
| Immunodeficiency 46 |
|
Sepsis, Failure to thrive, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidia... |
OMIM:616740 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Abnormal c... |
OMIM:618048 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria... |
ORPHA:169079 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl... |
OMIM:601457 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent infections, Decreased circulating IgG level, Failure to thrive, Atelectasis, Hepatocell... |
OMIM:618278 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
| Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, ... |
ORPHA:91138 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Primary Myelofibrosis |
|
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Anorexia... |
ORPHA:824 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent infections, Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased cir... |
OMIM:614470 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... |
OMIM:619773 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
| Systemic Lupus Erythematosus 17 |
|
Hypertensive crisis, Myelitis, Lymphopenia, Leukopenia, Malar rash, Mitral regurgitation, Optic n... |
OMIM:301080 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rheumatoid arthritis,... |
ORPHA:85414 |
| Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Intrauteri... |
ORPHA:858 |
| Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Decreased liver function... |
ORPHA:98850 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Increased circulating IgE level, Hepatosplenomegaly, Psoriasiform der... |
OMIM:606367 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Recurrent viral infections, Failure to thrive, Postnatal growt... |
OMIM:609981 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly... |
OMIM:620632 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... |
OMIM:603902 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... |
ORPHA:231222 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, ... |
ORPHA:565612 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... |
OMIM:604416 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hep... |
OMIM:105200 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... |
ORPHA:911 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... |
ORPHA:3260 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Abdominal pain, Intestinal perforation, Acute kidney injury, Anuria, Gastrointestinal i... |
ORPHA:544482 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... |
ORPHA:329918 |
| Familial Mediterranean Fever |
|
Nephropathy, Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Arrhyt... |
ORPHA:342 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Panhypogammaglobulinemia, Rec... |
OMIM:307200 |
| Kawasaki Disease |
|
Diarrhea, Nausea and vomiting, Arrhythmia, Jaundice, Abdominal pain, Vasculitis, Sterile pyuria, ... |
ORPHA:2331 |
| Complement Factor I Deficiency |
|
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal ins... |
OMIM:610984 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Diarrhea, ... |
ORPHA:436159 |
| Trimethylaminuria |
|
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
| Immunodeficiency 56 |
|
Recurrent pneumonia, Hepatic failure, Failure to thrive, Recurrent otitis media, Recurrent infect... |
OMIM:615207 |
| Avian Influenza |
|
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... |
ORPHA:454836 |
| Bullous Impetigo |
|
Abnormality of the lymphatic system, Pustule, Glomerulopathy, Septic arthritis, Recurrent bacteri... |
ORPHA:36237 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo... |
ORPHA:567548 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... |
OMIM:300972 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Skin rash,... |
OMIM:612714 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosp... |
OMIM:259710 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight... |
ORPHA:171 |
| Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... |
ORPHA:1163 |
| Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepa... |
OMIM:614602 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, Fa... |
OMIM:613404 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... |
OMIM:618348 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos... |
ORPHA:77297 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Ventricular septal d... |
OMIM:208085 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... |
OMIM:237800 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:610539 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... |
OMIM:617021 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Autoimmune thrombocytopeni... |
ORPHA:391487 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Autoimmune hemolyt... |
ORPHA:100026 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... |
OMIM:619281 |
| Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Weight loss, Abnormality of the kidney, Abdominal pain, Nephrotic syn... |
ORPHA:91139 |
| Beta-Thalassemia Major |
|
Hypoplasia of the musculature, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Pers... |
ORPHA:231214 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Failure to thrive in infancy, Hypersplenism, Pancytopenia, Portal hypertension, Spleno... |
OMIM:613385 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Hypersplenism... |
ORPHA:228426 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... |
ORPHA:443811 |
| Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis |
OMIM:615947 |
| Reticular Dysgenesis |
|
Diarrhea, Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Malabsorption, Skin ra... |
ORPHA:33355 |
| Common Variable Immunodeficiency |
|
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Bronchiectasis, E... |
ORPHA:1572 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... |
ORPHA:93126 |
| Boutonneuse Fever |
|
Vasculitis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Le... |
ORPHA:83313 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Erysipelas, Malabsorption, Neonatal chol... |
OMIM:214900 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Polycystic ovaries... |
ORPHA:2348 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami... |
OMIM:170100 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency... |
ORPHA:99931 |
| Carcinoid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg... |
ORPHA:100093 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... |
OMIM:232220 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... |
OMIM:618108 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Hepatic steatosis, Anemia, Cirrhosis, Arrhythmia, Osteoarthritis, Hepatomegaly |
OMIM:606069 |
| Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Leukopenia, Pulmona... |
OMIM:222700 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... |
OMIM:616730 |
| Colchicine Poisoning |
|
Hypotension, Vomiting, Diarrhea, Oliguria, Cardiogenic shock, Congestive heart failure, Leukocyto... |
ORPHA:31824 |
| Immunodeficiency 7 |
|
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... |
OMIM:615387 |
| Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re... |
ORPHA:676 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Eczematoid dermatitis, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of p... |
ORPHA:3055 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... |
OMIM:620010 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... |
OMIM:608184 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... |
ORPHA:210136 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm... |
OMIM:231000 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... |
ORPHA:449395 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... |
ORPHA:158057 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Hepatic steatosis |
ORPHA:79087 |
| Cach Syndrome |
|
Renal hypoplasia, Vomiting, Hepatosplenomegaly, Optic neuritis, Pancreatitis, Dysphagia, Flexion ... |
ORPHA:135 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Growth delay, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614727 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Elevated circulating hepatic t... |
ORPHA:36426 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Intrau... |
OMIM:610333 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Hepatic failure, Failure to thrive,... |
OMIM:214950 |
| Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:131400 |
| Tropical Pancreatitis |
|
Vomiting, Malnutrition, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic ca... |
ORPHA:103918 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Abnormality of the kidney, Arthritis, Pericarditis, Abnormal renal physiology |
OMIM:609939 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary... |
OMIM:269200 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Polycystic ovaries... |
ORPHA:79083 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypopituitarism, Hepa... |
OMIM:619013 |
| Schnitzler Syndrome |
|
Vasculitis, Leukocytosis, Skin rash, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, Hepatomega... |
ORPHA:37748 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... |
OMIM:263300 |
| Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... |
ORPHA:263501 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:615395 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Psoriasiform dermatitis, Nausea and vomiting, Hematuria, Weight loss, Anore... |
ORPHA:49041 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Upper limb muscle weakness, Cardiomyopathy, Palpitations, Elevated urinary catechol... |
ORPHA:892 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Familial Chylomicronemia Syndrome |
|
Pulmonary embolism, Failure to thrive, Hepatosplenomegaly, Nausea and vomiting, Hepatic steatosis... |
ORPHA:444490 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Short stature, Splenomegaly |
ORPHA:417 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ... |
ORPHA:90280 |
| Mirizzi Syndrome |
|
Cholelithiasis, Vomiting, Abdominal distention, Abdominal colic, Elevated circulating hepatic tra... |
ORPHA:521219 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Increased circulating lactate dehydrogenase concentration, Lower limb muscle weakness, Pruritus, ... |
ORPHA:370348 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cel... |
OMIM:615214 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Intrauterine growth reta... |
OMIM:231100 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... |
ORPHA:846 |
| Idiopathic Camptocormia |
|
Myelitis, Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Myositis, Fatty repl... |
ORPHA:1320 |
| Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Weight loss, H... |
OMIM:615846 |
| Immunodeficiency 13 |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Lympho... |
OMIM:615518 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, W... |
OMIM:619381 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Microangiopathic hemolytic anemia, Abdominal pain, Rectal prolapse, Intestinal perforat... |
ORPHA:90038 |
| Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Skin rash, Splenomegaly, Abnormality of the pulmonary artery, An... |
ORPHA:290 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... |
OMIM:618806 |
| Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, P... |
ORPHA:60 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hypertension, Thrombocytopenia |
OMIM:166990 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Growth delay, Splenomegaly |
ORPHA:79238 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Pancytopenia, Primary adrenal insufficiency, Hepatic steatosi... |
OMIM:617872 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Normochromic microcytic anem... |
OMIM:610198 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... |
ORPHA:537 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Recurrent viral infections, Recurrent candida infections, Increased... |
ORPHA:217390 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... |
OMIM:614172 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis |
ORPHA:163596 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... |
ORPHA:98848 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Short stature, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertension |
OMIM:608600 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hypohidrosis, Hepatitis |
ORPHA:363523 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... |
OMIM:618394 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:615122 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... |
ORPHA:35078 |
| Mal De Meleda |
|
Flexion contracture, Inflammatory abnormality of the skin, Hyperhidrosis, Superficial dermal peri... |
ORPHA:87503 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... |
OMIM:619463 |
| Dracunculiasis |
|
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Flexion contracture, Pruritus, Recurrent cut... |
ORPHA:231 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le... |
OMIM:617241 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... |
ORPHA:540 |
| Forsythe-Wakeling Syndrome |
|
Short stature, Growth delay, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutrope... |
OMIM:229050 |
| Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... |
OMIM:615631 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese... |
ORPHA:231154 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Increased circulating lactate dehydrogenase concentration, Abnormal ... |
ORPHA:543 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... |
OMIM:614576 |
| Classic Mycosis Fungoides |
|
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ... |
ORPHA:2584 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
| Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... |
OMIM:616622 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Disseminated molluscum contagiosum, Colonic eosinop... |
OMIM:617638 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
| Esophagitis, Eosinophilic, 2 |
|
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia |
OMIM:610247 |
| Gaucher Disease Type 1 |
|
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibody level, Cirrhosis,... |
ORPHA:77259 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Elevated circulating hepatic transaminase concentration, Protracted diarrhea, Bloody di... |
ORPHA:67 |
| Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Hematuria, Weight loss, Glomerulonephritis, Anorexia, Abdom... |
ORPHA:48435 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Organic aciduria, Failure to thrive, Aspiration pneumonia, Renal tubular acidosis, Pancreatitis, ... |
ORPHA:431361 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte... |
OMIM:611182 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Recurrent otitis media, Increased circulating IgE level, Hyp... |
ORPHA:98813 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Mitral regurgitation, Neutropenia, Hepatomegaly,... |
OMIM:612541 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Failure to thrive, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, M... |
OMIM:615816 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Feeding difficulties in infancy, Weight loss, Arrhythmia, Dysphag... |
ORPHA:221 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,... |
OMIM:611762 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to t... |
OMIM:613179 |
| Methylmalonic Acidemia With Homocystinuria |
|
Skin rash, Failure to thrive, Feeding difficulties |
ORPHA:26 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria, Eczematoid dermatitis |
OMIM:176090 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... |
ORPHA:54251 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat... |
OMIM:617780 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615085 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurre... |
OMIM:614069 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... |
OMIM:619705 |
| Maple Syrup Urine Disease, Type Ia |
|
Vomiting, Increased level of hippuric acid in urine, Reduced branched-chain alpha-keto acid dehyd... |
OMIM:248600 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Prolinuria, Reduced circulating 5-oxoprolinase activity, Enterocolitis, Calci... |
OMIM:260005 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Cutaneous abscess, Recurrent otitis media, Decreased proportion of class-switc... |
OMIM:618944 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis... |
ORPHA:391 |
| Stuve-Wiedemann Syndrome 2 |
|
Eczematoid dermatitis, Congestive heart failure, Intrauterine growth retardation, Neonatal death,... |
OMIM:619751 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Malar rash, Gastroesophageal reflux, Decreased body weight |
OMIM:618097 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... |
ORPHA:26790 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Postnatal growth retardation, Elevated circulating hepatic transaminase concentrati... |
OMIM:232700 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Gastroesophageal reflux, Cardiomyopathy, Absent muscle fiber merosin, Reduced... |
ORPHA:258 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgE, Recurrent upper respiratory tract inf... |
OMIM:615758 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Malar rash, Hematuria, Serositis, Thrombocytopenia, Anemia, Pericardial e... |
ORPHA:231111 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated gamma-glutamyltransferase level, Recurrent viral infections, Cholestasis, Lymphopenia, D... |
OMIM:619573 |
| Mevalonic Aciduria |
|
Recurrent infections, Elevated circulating hepatic transaminase concentration, Increased circulat... |
OMIM:610377 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Vasculi... |
ORPHA:228123 |
| Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Hematuria, Prostatitis, Weight loss, Arrhythmia, Inf... |
ORPHA:900 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating lactate dehydrogenase co... |
OMIM:614034 |
| Cystic Fibrosis |
|
Cor pulmonale, Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Failure to thrive, Meconium ileu... |
OMIM:219700 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Calf muscle hypertrophy, Pancreatitis, Hepatomegaly, Skele... |
ORPHA:435651 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation |
OMIM:613736 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... |
OMIM:613490 |
| Scorpion Envenomation |
|
Diarrhea, Rhabdomyolysis, Premature ventricular contraction, Arrhythmia, Abdominal pain, Tachycar... |
ORPHA:466677 |
| Atelis Syndrome 1 |
|
Eczematoid dermatitis, Leukopenia, Glue ear, Hypothyroidism, Thrombocytopenia, Anemia, Recurrent ... |
OMIM:620184 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Diastasis recti, Portal hypertension, Renal in... |
ORPHA:440713 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Arthritis, Abnormal pleura morphology |
ORPHA:2582 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Arrhythmia, Hepatomegaly, Dysphagia, Polycystic kidney dysplasia, 3-Methylglutari... |
ORPHA:26791 |
| Hydroa Vacciniforme |
|
Papulovesicular eruption, Keratitis, Eczematoid dermatitis, Malar rash, Superficial dermal periva... |
ORPHA:330058 |
| Juvenile Arthritis |
|
Leukocytosis, Skin rash, Thrombocytosis |
OMIM:618795 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Internal hemorrhage, Anemi... |
ORPHA:69077 |
| Visceral Myopathy 1 |
|
Microcolon, Diarrhea, Vomiting, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Mal... |
OMIM:155310 |
| Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... |
ORPHA:42642 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly... |
OMIM:614376 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargem... |
ORPHA:79078 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze... |
OMIM:306400 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Sepsis, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthriti... |
OMIM:620321 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... |
OMIM:232200 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... |
ORPHA:169090 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Eczematoid dermatitis, Failure to thrive, Facial myokymia |
OMIM:620007 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media, Recurrent bacterial infec... |
OMIM:617475 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular ca... |
OMIM:145981 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Diarrhea, Decreased body weight, Hematuria, Acute tubulointerstitial neph... |
ORPHA:340 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... |
OMIM:616576 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... |
ORPHA:732 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatitis, Parathyroid ad... |
OMIM:145980 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure to thrive, Red... |
OMIM:603553 |
| Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Elevated ci... |
OMIM:614921 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Polycystic ovaries, Hepato... |
ORPHA:79259 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly, Growth delay |
ORPHA:100025 |
| Ichthyosis Vulgaris |
|
Eczematoid dermatitis |
OMIM:146700 |
| Omenn Syndrome |
|
Pneumonia, Sepsis, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly,... |
ORPHA:39041 |
| Preeclampsia |
|
Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Elevated circulating he... |
ORPHA:275555 |
| Hemochromatosis, Type 3 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Lymphopenia, Cirrhosis, ... |
OMIM:604250 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Cirrhosis, Hepatomegal... |
ORPHA:264580 |
| Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,... |
OMIM:231530 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... |
OMIM:301081 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Failure t... |
OMIM:613989 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Short stature |
OMIM:612526 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Growth delay |
OMIM:614082 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Short stature |
ORPHA:172 |
| Ataxia-Telangiectasia |
|
Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Failur... |
ORPHA:100 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... |
OMIM:616871 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves disease, Goiter, Palpitati... |
ORPHA:525731 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Absent circu... |
OMIM:619693 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytope... |
OMIM:619151 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Usual interstitial pneumonia, Increas... |
OMIM:620367 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:620532 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Primary hypercortisolism, Ovarian cyst, Pancreatitis, Trunc... |
OMIM:610475 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous... |
OMIM:214500 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased circulating antibody level, Cirrhosis, Glomerulon... |
ORPHA:470 |
| Noonan Syndrome 12 |
|
Atopic dermatitis, Decreased response to growth hormone stimulation test, Lymphopenia, Supravalvu... |
OMIM:618624 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Telangiectasia, Cirrhosis, Thrombocytopenia, Anemia |
ORPHA:101028 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Diarrhea, Nephrocalcinosis, Chronic mucocutaneous candidiasis... |
OMIM:240300 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir... |
ORPHA:85212 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... |
OMIM:619868 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
| Late-Onset Isolated Acth Deficiency |
|
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Celiac disease, Abdomin... |
ORPHA:199299 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Neph... |
OMIM:104200 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Hypotension, Shock, Pancreatitis |
ORPHA:70578 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Protein avoidance, Episodic vomiting, ... |
OMIM:238970 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Flexion contracture, Recurrent skin infections |
ORPHA:79503 |
| Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Erysipelas, Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, ... |
OMIM:249100 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Chronic constipation, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, ... |
OMIM:619428 |
| Arterial Tortuosity Syndrome |
|
Gastroesophageal reflux, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyo... |
ORPHA:3342 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Failure to thrive, Hepatic steatosis, Mitral valve prolapse, Reduced cystathionin... |
OMIM:236200 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... |
OMIM:606003 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal... |
OMIM:167800 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Vasculitis, Granuloma, Hepatitis, Decreased response to growth hormone stimulation tes... |
ORPHA:1855 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Immunodeficiency 68 |
|
Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
OMIM:618400 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Leu... |
ORPHA:20 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic... |
ORPHA:99826 |
| Sézary Syndrome |
|
Palmoplantar keratoderma, Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegal... |
ORPHA:3162 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Decreased circulat... |
ORPHA:169105 |
| Systemic Lupus Erythematosus |
|
Discoid lupus rash, Anorexia, Leukopenia, Malar rash, Hematuria, Proteinuria, Hypertension, Weigh... |
ORPHA:536 |
| Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:618881 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Skin rash |
OMIM:124950 |
| Immunodeficiency 44 |
|
Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin... |
OMIM:616636 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Gr... |
OMIM:607115 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Cirrhosis, Pr... |
ORPHA:79278 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
| Keratolytic Winter Erythema |
|
Pustule, Hyperhidrosis |
ORPHA:50943 |
| Generalized Eruptive Histiocytosis |
|
Elevated total serum tryptase, Hypereosinophilia, Maculopapular exanthema, Leukemia, Pruritus, Hi... |
ORPHA:157991 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Cardiomyopathy, Failure to thrive, Decreased liver function |
ORPHA:67048 |
| Polyarteritis Nodosa |
|
Cardiomyopathy, Abnormality of the gastrointestinal tract, Weight loss, Raynaud phenomenon, Abnor... |
ORPHA:767 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Eczematoid dermatitis,... |
ORPHA:508542 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Increased circulating IgE ... |
OMIM:243700 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... |
OMIM:600802 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr... |
OMIM:608233 |
| Lichen Planopilaris |
|
Abnormal intestine morphology, Pruritus, Hepatitis |
ORPHA:525 |
| Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Elevated cir... |
ORPHA:398063 |
| Dermatitis, Atopic |
|
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent ... |
OMIM:603165 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... |
ORPHA:562 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, Sepsis, Recurrent respiratory infect... |
OMIM:617303 |
| Mycosis Fungoides |
|
Pruritus, Eczematoid dermatitis, Psoriasiform dermatitis, Lymphadenopathy |
OMIM:254400 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141179 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatomegaly, Tach... |
ORPHA:98849 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Short stature, Hepatomegaly, Growth delay |
OMIM:261750 |
| Mirage Syndrome |
|
Sepsis, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Adrena... |
OMIM:617053 |
| Mulibrey Nanism |
|
Hepatomegaly, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
| Wolman Disease |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Congestive heart failure, Elevated circulating aspartate aminotransferase conc... |
OMIM:619048 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Failure to thrive, Eosin... |
ORPHA:411696 |
| Pelger-Huet Anomaly |
|
Giant platelets, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Hyposegmentati... |
OMIM:169400 |
| Leptospirosis |
|
Diarrhea, Pulmonary hemorrhage, Nausea and vomiting, Rhabdomyolysis, Arrhythmia, Anorexia, Hepato... |
ORPHA:509 |
| Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intraalveolar phosph... |
OMIM:615486 |
| Sarcoidosis, Susceptibility To, 2 |
|
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Splenomegaly, Pneumothor... |
OMIM:612387 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Hyperhidrosis, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
| Coffin-Siris Syndrome 8 |
|
Eczematoid dermatitis, Failure to thrive, Cryptorchidism, Feeding difficulties, Poor suck |
OMIM:618362 |
| Chilblain Lupus 1 |
|
Raynaud phenomenon, Chilblains |
OMIM:610448 |
| Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil c... |
ORPHA:811 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... |
OMIM:314050 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... |
ORPHA:411593 |
| Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine, Pruritus |
ORPHA:46487 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
ORPHA:79301 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis... |
ORPHA:449427 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Failure to thriv... |
ORPHA:71212 |
| Immunodeficiency 31C |
|
Recurrent infections, Growth delay, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Ost... |
OMIM:614162 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage |
OMIM:602248 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
| Lymphatic Filariasis |
|
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoarthritis, Abnormalit... |
ORPHA:2035 |
| Congenital Isolated Acth Deficiency |
|
Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased circulatin... |
ORPHA:199296 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Infectious encephalitis, Anemia, L... |
OMIM:267700 |
| Muckle-Wells Syndrome |
|
Nephropathy, Vasculitis, Nephrotic syndrome, Renal amyloidosis, Camptodactyly of finger, Recurren... |
ORPHA:575 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice |
OMIM:613977 |
| Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Cholelithiasis, Eczematoid dermatitis, Pruritus, Hemolytic anemia |
OMIM:177000 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Vasculitis in the skin |
ORPHA:90159 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content |
ORPHA:293964 |
| Roifman Syndrome |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation,... |
ORPHA:353298 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Abnormality of the urinary system, Urethral stricture, Gastrointestinal inflammation, Anemia, Eso... |
ORPHA:79409 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Growth delay, Micronodular cirrhosis, ... |
OMIM:256810 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:233710 |
| Roifman Syndrome |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation,... |
OMIM:616651 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Failure to thrive, Agammaglobulinemia, Monocytosis, Recurrent ... |
OMIM:615592 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Sepsis, Failure to thrive, Polysplenia, Exocrine pan... |
OMIM:619418 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619752 |
| Acute Promyelocytic Leukemia |
|
Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymp... |
ORPHA:520 |
| Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141184 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... |
OMIM:607676 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Elevated circulating hepatic trans... |
ORPHA:445038 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... |
OMIM:133100 |
| Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Feeding difficulties in infa... |
ORPHA:1334 |
| African Trypanosomiasis |
|
Diarrhea, Hepatosplenomegaly, Arrhythmia, Weight loss, Urinary incontinence, Hepatomegaly, Jaundi... |
ORPHA:3385 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Wrist flexion contracture, Arthritis, Congenital finger flexion contra... |
OMIM:208250 |
| Fetal Parvovirus Syndrome |
|
Anemia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Thrombocytopenia |
ORPHA:295 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Peptic ulcer, Parathyroid carcinoma, Renal hamartoma, Shortened QT interval, Pa... |
ORPHA:143 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Epistaxis, Hypersplenism, Pancytopenia, Splenomegaly, Mitral regurgitation... |
OMIM:230800 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Anhidrosis, Proteinuria, Episodic hemolytic anemia, Macroscopic hematuria, Membranoproli... |
ORPHA:251004 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... |
ORPHA:324964 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... |
ORPHA:186 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Ch... |
OMIM:614868 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:233690 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy... |
ORPHA:51 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolit... |
OMIM:600740 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Cardiomyopathy, Hepatic steatosis, Failure to thrive |
ORPHA:26792 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Growth delay |
OMIM:611490 |
| Hyperlipoproteinemia, Type I |
|
Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Episodic abdominal pain, Jaundice, Acute panc... |
OMIM:238600 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Atopic dermatitis, Hematochezia, Diarrhea, Vomiting, Protein-losing enteropath... |
ORPHA:2070 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Cholestasi... |
OMIM:620233 |
| Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate amin... |
OMIM:257200 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Decreased body mass index, Diarrhea, Vomiting, Elevated circulating hepatic tra... |
ORPHA:247585 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
| Atypical Hemolytic Uremic Syndrome |
|
Abnormal circulating lactate dehydrogenase concentration, Thrombocytopenia, Microangiopathic hemo... |
ORPHA:2134 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N... |
ORPHA:238459 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Vasculitis, Inflammation of the large intestine, Recurrent pneumo... |
OMIM:617718 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Rhizomelia, Congestive heart failure, Leukopenia, Intrauterine growth retard... |
OMIM:616271 |
| Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Abnormal cardiovascular system physiology, Hepatic steatosis, Myopathy, Polycysti... |
ORPHA:79086 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Recurrent opportunistic infections, Cirrhosis, Thrombo... |
OMIM:613987 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Splenome... |
ORPHA:158048 |
| Cocaine Intoxication |
|
Rhabdomyolysis, Hematuria, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal p... |
ORPHA:90068 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hepatitis, Jejunoileal ulceration, Rectal abscess, Intestinal malrotation, Ps... |
ORPHA:436252 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,... |
ORPHA:2902 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Skin rash |
ORPHA:1059 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Ulerythema Ophryogenesis |
|
Contact dermatitis, Acne |
ORPHA:3406 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... |
ORPHA:209902 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... |
OMIM:201475 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa... |
OMIM:620005 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... |
OMIM:613027 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Decreased circulating T4 concent... |
OMIM:610199 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Shor... |
OMIM:616435 |
| Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Abnormal heart valve morphology, Episcleritis, Splenomegaly, Skin rash, Renal insuffici... |
ORPHA:36412 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Renal amyloidosis, Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis |
OMIM:120100 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... |
OMIM:616860 |
| Melas |
|
Nephropathy, Diarrhea, Intestinal pseudo-obstruction, Myopathy, Hypoparathyroidism, Focal segment... |
ORPHA:550 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Tafro Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Leukocytosis, Sple... |
ORPHA:457077 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Recurrent viral infections, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aph... |
ORPHA:486 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Adrenocorticotropin deficient ... |
ORPHA:293978 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Hematochezia, Elevated circulati... |
ORPHA:79095 |
| Leigh Syndrome, Nuclear |
|
Failure to thrive, Hepatocellular necrosis |
OMIM:256000 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i... |
ORPHA:2688 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I... |
OMIM:620376 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia, Pulmonary ... |
OMIM:620365 |
| Rift Valley Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Anorexia, Retinal hemorrhage,... |
ORPHA:319251 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, D... |
OMIM:612782 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinoph... |
OMIM:618523 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... |
OMIM:155100 |
| Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l... |
ORPHA:98908 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Seborrheic dermatitis, Thrombocytopenia, Neutropenia, Anemia, Jaundice, Stoma... |
OMIM:246400 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Inflammation of the large intestine, Lymphadenitis, Cholestasis, Erythroderma, Hepatomegaly, Abdo... |
OMIM:615895 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Distal amyotrophy, Hypothyroidism, Iridocyclitis, Pancreatitis, Dysphagia |
ORPHA:412057 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, Impaired... |
OMIM:619313 |
| Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Obesity, Hepatic steatosis, Hypertension, Myocardial infarction |
OMIM:615703 |
| Hereditary Folate Malabsorption |
|
Failure to thrive, Recurrent urinary tract infections, Pancytopenia, Decreased circulating antibo... |
ORPHA:90045 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis, Abdominal pain |
OMIM:134610 |
| Bone Marrow Failure Syndrome 3 |
|
Recurrent infections, Bone marrow hypocellularity, Aplastic anemia, Eczematoid dermatitis, Increa... |
OMIM:617052 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia, Reduced 3-phosphoglycerate deh... |
OMIM:601815 |
| Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Igg4-Related Ophthalmic Disease |
|
Neoplasm of the lung, Keratitis, Increased circulating IgE level, Increased circulating IgG4 leve... |
ORPHA:449563 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ... |
OMIM:613313 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Intrauterine growth retardation,... |
OMIM:617827 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity, Leukocytosis |
ORPHA:98827 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased circul... |
ORPHA:91547 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, R... |
OMIM:243500 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension... |
ORPHA:90062 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Pustule, Hypertension |
OMIM:616069 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Hypohidrosis, Skin rash, Camptodactyly of finger |
ORPHA:1658 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... |
OMIM:615952 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... |
OMIM:619079 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Decreased liver function, Cholestasis, Decreased circulating T4 concentration,... |
OMIM:608104 |
| Linear Iga Dermatosis |
|
Renal neoplasm, Epistaxis, Inflammation of the large intestine, Pruritus |
ORPHA:46488 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Shortened QT interval, Pancreatic adenocarcinoma... |
ORPHA:99880 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Hepatome... |
OMIM:615688 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Acute pancreatitis, Shock |
ORPHA:178320 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega... |
OMIM:605309 |
| Elastoderma |
|
Eczematoid dermatitis, Erysipelas |
ORPHA:228240 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive |
OMIM:227090 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
| Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Short stature, Splenomegaly |
ORPHA:2204 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Abnormal pleura morphology, Hepatitis, Recurrent respiratory infections |
ORPHA:584 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Cortisone Reductase Deficiency 1 |
|
Obesity, Acne |
OMIM:604931 |
| Seckel Syndrome 10 |
|
Severe short stature, Elevated circulating luteinizing hormone level, Congestive heart failure, E... |
OMIM:617253 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp... |
OMIM:610717 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly |
ORPHA:33402 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia |
OMIM:616176 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Cycli... |
OMIM:232240 |
| Dengue Fever |
|
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Skin rash, Thrombocytopenia, Cer... |
ORPHA:99828 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Decrea... |
OMIM:615607 |
| Typhoid |
|
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephaliti... |
ORPHA:99745 |
| Spastic Paraplegia 84, Autosomal Recessive |
|
Ankle flexion contracture, Leg muscle stiffness, Lower limb muscle weakness, Hip contracture, Kne... |
OMIM:619621 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Vent... |
ORPHA:280365 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Panhypo... |
OMIM:601495 |
| Myh9-Related Disease |
|
Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets, Spontaneous,... |
ORPHA:182050 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased circulating lactate dehydrogenase concentration, Failure to thrive, Osteomyelitis, Panc... |
OMIM:259700 |
| Gaucher Disease |
|
Pancytopenia, Increased circulating antibody level, Cirrhosis, Polyclonal elevation of IgM, Hepat... |
ORPHA:355 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Abdominal pain, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:99901 |
| Follicular Lymphoma |
|
Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Med... |
ORPHA:545 |
| Cinca Syndrome |
|
Abnormality of neutrophils, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Inflammatory... |
ORPHA:1451 |
| Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur... |
ORPHA:333 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Failure to thrive, Decreased methionine synthase activity, Pancytopenia, Skin rash, Anemia, Megal... |
OMIM:277380 |
| Whim Syndrome |
|
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Seps... |
ORPHA:51636 |
| Dysbetalipoproteinemia |
|
Tendon xanthomatosis, Obesity, Gout, Hepatic steatosis, Angina pectoris, Hypothyroidism, Renal st... |
ORPHA:412 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Emphysema, Weight loss, Pulmonary arterial hypertension, Bronchie... |
ORPHA:1164 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Bloody diarrhea, Villous atrophy, Duodenitis, Pustule, Erythroderma, Blepharitis |
OMIM:614328 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Colitis, Obesity, Cardiomegaly |
ORPHA:88643 |
| Sepsis In Premature Infants |
|
Hypotension, Decreased liver function, Leukocytosis, Splenomegaly, Bradycardia, Decreased body we... |
ORPHA:90051 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct... |
OMIM:616829 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... |
ORPHA:906 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... |
OMIM:264470 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Small for gestatio... |
OMIM:210900 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ... |
ORPHA:86841 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
| Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre... |
ORPHA:167 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media, Hepatic stea... |
OMIM:619525 |
| Kaposi Sarcoma |
|
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenop... |
ORPHA:33276 |
| Glutathionuria |
|
Reduced gamma-glutamyltransferase level, Eczematoid dermatitis, Reduced tissue gamma-glutamyltran... |
OMIM:231950 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Arrhythmia, Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Diarrhea, Elevated circulating hepatic transaminase concent... |
ORPHA:79332 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, Recurrent aphthous stomatitis, Intrauterine growth retar... |
OMIM:615966 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Gastroesophageal reflux, Foot joint contracture, IgA deposition in the gl... |
ORPHA:79408 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Recurrent viral infections, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced ... |
OMIM:617443 |
| Chronic Actinic Dermatitis |
|
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus |
ORPHA:330064 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Lymphopenia, Decreased proportion of... |
OMIM:301000 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Bicuspid aortic valve, Atrial septal defect, Recurrent skin infections, Feedin... |
OMIM:617744 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Recurrent infections, Recurrent pneumonia, Elevated circulating hepatic transaminase concentratio... |
OMIM:613327 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat... |
ORPHA:284426 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Vomiting, Hypovolemic shock, Failure to... |
ORPHA:171876 |
| Acquired Ichthyosis |
|
Pruritus, Recurrent skin infections, Renal insufficiency |
ORPHA:454 |
| Bardet-Biedl Syndrome 20 |
|
Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, Obesity, Prote... |
OMIM:619471 |
| Acute Radiation Syndrome |
|
Hypotension, Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Telangi... |
ORPHA:454831 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl... |
OMIM:260400 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie... |
OMIM:137940 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Pruritus, Erythroderma |
ORPHA:280785 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Small for gestational age, Recurrent vir... |
ORPHA:2959 |
| Phenylketonuria |
|
Phenylalaninuria, Eczematoid dermatitis |
ORPHA:716 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Abnormality of the splee... |
ORPHA:79456 |
| Yellow Fever |
|
Diarrhea, Pancreatic hyperplasia, Elevated circulating alanine aminotransferase concentration, Ne... |
ORPHA:99829 |
| Pearson Syndrome |
|
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, H... |
ORPHA:699 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... |
OMIM:613839 |
| Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis |
ORPHA:79148 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Sepsis, Shock, Skin rash, Internal hemorrhage, Thrombocytopenia, Intracranial he... |
ORPHA:49566 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:616719 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... |
OMIM:618462 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Recurrent aphthous stomatitis, Skin rash, Otitis media, Recurrent gastroenteri... |
ORPHA:275 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage, Anemia, Hypertension |
OMIM:618886 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Stillbirth, Intestinal lymphangiectasia |
OMIM:152800 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acanthocytosis, Hepat... |
ORPHA:71 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Anemia, Thrombocytopenia |
ORPHA:2123 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Organic aciduria, Nausea and vomiting, Keratoconjunctivit... |
ORPHA:79242 |
| Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Synovitis, Art... |
OMIM:186580 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Increased body weight, Pruritis on h... |
ORPHA:64745 |
| Diarrhea 13 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive |
OMIM:620357 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Tetrasomy 9P |
|
Glue ear, Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Dextrocardia, Jau... |
ORPHA:3310 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopenia,... |
OMIM:603585 |
| Scedosporiosis |
|
Pneumonia, Abnormal jejunum morphology, Unusual skin infection, Osteomyelitis, Sinusitis, Abnorma... |
ORPHA:449280 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
| Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced... |
OMIM:173590 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Atelectasis, Tricuspid regurgitation, Splenic cyst, Cryptorchidism... |
OMIM:620371 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Erythroi... |
OMIM:266200 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Increased circulating lactate dehydrogenase concentration, Subara... |
OMIM:185070 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Mitral regurgitation, Hypothyroidism,... |
OMIM:619750 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
| Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia |
OMIM:612952 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Splen... |
OMIM:210250 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Short sta... |
OMIM:601847 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... |
OMIM:611126 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White s... |
OMIM:618234 |
| Desmoplastic Small Round Cell Tumor |
|
Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neopla... |
ORPHA:83469 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro... |
ORPHA:293173 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
| Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Palmoplantar keratoderma, Increased circulating lactate dehydrogenase concen... |
OMIM:604173 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... |
ORPHA:79126 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... |
OMIM:615234 |
| Schimke Immunoosseous Dysplasia |
|
Growth delay, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Tr... |
OMIM:242900 |
| Overlap Myositis |
|
Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Leukopenia, Pulmon... |
ORPHA:206572 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Lig4 Syndrome |
|
Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Cryptorchidism, Chronic sinusitis, Tela... |
OMIM:606593 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
| Pityriasis Rubra Pilaris |
|
Pustule, Pruritus, Erythroderma, Eczematoid dermatitis |
ORPHA:2897 |
| Cutaneous Small Vessel Vasculitis |
|
Vasculitis, Recurrent skin infections, Skin rash |
ORPHA:889 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenase concentration, Reti... |
ORPHA:54057 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Intrauterine growth retardation, Splenomegaly |
OMIM:608540 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atopic dermatitis, Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis... |
OMIM:614262 |
| Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chilblains, ... |
OMIM:225750 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Pruritus, Recurrent otitis med... |
OMIM:618268 |
| Generalized Pustular Psoriasis |
|
Cheilitis, Elevated circulating hepatic transaminase concentration, Congestive heart failure, Lym... |
ORPHA:247353 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Fai... |
OMIM:557000 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Short stature |
OMIM:617243 |
| Blau Syndrome |
|
Nephropathy, Xerostomia, Synovitis, Iridocyclitis, Erythema nodosum, Abnormality of the liver, Cl... |
ORPHA:90340 |
| Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleural effusion, Weight l... |
ORPHA:50251 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Erysipelas, Hypohidrosis, Joint contracture, Hepatomegaly |
OMIM:615704 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... |
OMIM:224120 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatomegaly, Jaundice, Pulmonary... |
OMIM:231680 |
| Reactive Arthritis |
|
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infe... |
ORPHA:29207 |
| Zika Virus Disease |
|
Myelitis, Intrauterine growth retardation, Skin rash, Infectious encephalitis, Arthritis, Thrombo... |
ORPHA:448237 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu... |
ORPHA:567546 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated gamma-glutamyltransferase level, Failure to thrive, Hypertrophic cardiomyopathy, Elevate... |
OMIM:614582 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopath... |
ORPHA:70472 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Anemia... |
ORPHA:298 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... |
ORPHA:90362 |
| Chronic Granulomatous Disease |
|
Pyloric stenosis, Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Hepatomegaly,... |
ORPHA:379 |
| Thrombocytopenia 5 |
|
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... |
OMIM:616216 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Acne, Abnormal aortic valve morphology |
ORPHA:577 |
| Pseudo-Torch Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... |
OMIM:251290 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:275761 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thrombocytopenia, ... |
ORPHA:49827 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thro... |
ORPHA:88 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
ORPHA:75234 |
| Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... |
ORPHA:300536 |
| Patent Ductus Venosus |
|
Persistent patent ductus venosus, Congenital portosystemic venous shunt, Hepatic steatosis, Decre... |
OMIM:601466 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Eczematoid dermatitis,... |
OMIM:618131 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Megacystis, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Skin rash, Abnormal gastric mucosa morphology, Infectious en... |
ORPHA:779 |
| Netherton Syndrome |
|
Allergic rhinitis, Failure to thrive, Eczematoid dermatitis, Hypereosinophilia, Villous atrophy, ... |
OMIM:256500 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Gaucher Disease, Type Ii |
|
Bronchiolitis, Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Recurrent... |
OMIM:230900 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatic fibrosis, Peripheral pulmonary artery stenosis, Panhypogammaglobuli... |
ORPHA:84064 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Growth delay, Splenomegaly |
OMIM:306000 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Corneal neovascu... |
OMIM:617388 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Vasculitis, Diarrhea, Failure to thrive in infancy, Leukocytosis, Skin rash, Chronic diarrhea, In... |
OMIM:617099 |
| Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... |
OMIM:301054 |
| Dpm1-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
ORPHA:79322 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Decreased methionine synthase activity, Cryptorchidism, Pulmonary arterial hyp... |
OMIM:614857 |
| Giant Cell Arteritis |
|
Vasculitis, Hepatic failure, Epistaxis, Double outlet right ventricle with subpulmonary ventricul... |
ORPHA:397 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hypertension, Hepatic steatosis, Polycystic ovaries |
ORPHA:280356 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Ventricular septal defect, Arrhythmia, Atrial septal defect... |
ORPHA:26793 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lym... |
ORPHA:160 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... |
ORPHA:98907 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Failure to thrive, Decreased response to growth hormone s... |
OMIM:603467 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Eczematoid dermatitis, Feeding difficulties, Ventricular septal defect |
OMIM:620393 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Macroorchidism, Long penis, Acne |
ORPHA:3000 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting... |
ORPHA:44890 |
| Wilson Disease |
|
Acute hepatic failure, Limb muscle weakness, Hepatic steatosis, Cirrhosis, Elevated circulating a... |
OMIM:277900 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Hepatosplenomegaly, Pleural effusion,... |
ORPHA:464329 |
| Necrobiosis Lipoidica |
|
Telangiectasia of the skin, Abnormality of neutrophil physiology, Inflammatory abnormality of the... |
ORPHA:542592 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... |
OMIM:615190 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... |
OMIM:618042 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... |
ORPHA:369 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp... |
OMIM:259720 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Increased proportion of exhausted T cells, Stomatitis |
OMIM:618307 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Van Den Bosch Syndrome |
|
Recurrent skin infections, Scapular winging |
ORPHA:3417 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm |
OMIM:109350 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Leukocytosis, Bradycardia, Peritonitis, Thrombocytopenia, Neutropenia, Neonat... |
ORPHA:391673 |
| Spontaneous Periodic Hypothermia |
|
Diarrhea, Nausea and vomiting, Skin rash, Arrhythmia, Hyperhidrosis |
ORPHA:29822 |
| Wolman Disease |
|
Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells, Growth delay |
ORPHA:75233 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia... |
OMIM:208900 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,... |
OMIM:617941 |
| Familial Benign Copper Deficiency |
|
Anemia, Acne |
ORPHA:1551 |
| Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Polysplenia, Atelectasis, Recurrent otitis media, Pulmonary s... |
ORPHA:244 |
| Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Dilated ... |
OMIM:203800 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Eczematoid dermatitis, Thyroiditis |
OMIM:618985 |
| Erythroderma Desquamativum |
|
Diarrhea, Seborrheic dermatitis, Failure to thrive |
ORPHA:314 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Bernard-Soulier Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... |
OMIM:231200 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Decreased bod... |
OMIM:608013 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Growth delay, Pancytop... |
OMIM:613990 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Thrombocytopenia, Neut... |
OMIM:614520 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Eczematoid dermatitis |
OMIM:619157 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Copper Deficiency, Familial Benign |
|
Anemia, Seborrheic dermatitis, Failure to thrive |
OMIM:121270 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia... |
ORPHA:86839 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Short stature, Splenomegaly |
ORPHA:93476 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal pleura morphology, Arrhythmia, Weight loss, Erythema nod... |
ORPHA:797 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Pulmonary venous hypertension, Weight loss, Irregular septal thickening on pulmonar... |
ORPHA:90060 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Decreased liver function, Neonatal death |
OMIM:614870 |
| Bullous Pemphigoid |
|
Pruritus, Weight loss, Psoriasiform dermatitis, Eczematoid dermatitis |
ORPHA:703 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hepatic steatosis |
ORPHA:436182 |
| Congenital Ichthyosiform Erythroderma |
|
Keratitis, Failure to thrive, Hypohidrosis, Erythroderma, Pruritus |
ORPHA:79394 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation, Small pituitary gland, Decreased response to growth ... |
OMIM:615925 |
| Hyper-Igd Syndrome |
|
Diarrhea, Lymphadenitis, Vomiting, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splen... |
OMIM:260920 |
| Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Failure to thrive, Intrauterine growth retardation, Abnormal leukocy... |
ORPHA:3322 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating hepatic transaminase concentration, Leukopenia, Intrauterine growth retardat... |
OMIM:301056 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Disproportionate short stature, Lymphopenia, Leukopenia, Recurrent infection of the gastrointesti... |
OMIM:301110 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, A... |
OMIM:249270 |
| Sengers Syndrome |
|
Growth delay, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, Car... |
OMIM:212350 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Torticollis, Episodic vomiting,... |
ORPHA:71272 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl... |
OMIM:139090 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Pneumonia, Abnormality of the hepatic vasculature, Nodular regenerative hyperp... |
ORPHA:247691 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic transaminase conc... |
OMIM:212065 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
| Erythema Elevatum Diutinum |
|
Skin rash, Vasculitis in the skin |
ORPHA:90000 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... |
OMIM:620486 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane... |
OMIM:616084 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Hypocalciuria, Hypomagnesiuria, Nausea and vomiting, Nephrolithiasis, Parathormone-... |
ORPHA:405 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... |
OMIM:615193 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevate... |
OMIM:212140 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly |
OMIM:618107 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Neoplasm of the col... |
ORPHA:556 |
| Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Oligosacchariduria, Facial palsy, Lymphadenopathy, Macroglo... |
ORPHA:2483 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to t... |
ORPHA:415 |
| Familial Adenomatous Polyposis |
|
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach canc... |
ORPHA:733 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Camptodactyly of finger, Mitral regurgitation, Mitral valve prolapse... |
ORPHA:2848 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Leukopenia, Portal hypertension, Congenital hepat... |
ORPHA:974 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Eczematoid dermatitis |
ORPHA:2101 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Palmoplantar keratoderm... |
ORPHA:1775 |
| Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Abnormal lymphocyte count, Cheil... |
OMIM:615468 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... |
OMIM:300835 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Vasculitis, Diarrhea, Skin rash |
OMIM:601979 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Palmoplantar hyperk... |
OMIM:224230 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Recu... |
ORPHA:79404 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Acne inversa, Panniculitis, Anemia, Cystic acne, Small vessel vasculitis |
OMIM:608068 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... |
OMIM:153670 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia, Elevated hepa... |
OMIM:614946 |
| Nocardiosis |
|
Pneumonia, Sepsis, Lymphadenitis, Cutaneous abscess, Keratitis, Brain abscess, Emphysema, Osteomy... |
ORPHA:31204 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Disproportionate short stature, Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Recurrent... |
OMIM:617425 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatic ste... |
OMIM:269700 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Failure to ... |
OMIM:617093 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne |
OMIM:612847 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent upper respiratory tract infections, Arteritis, Sepsis, Acne inversa, Herpes simplex enc... |
OMIM:233600 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
| Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Pancytope... |
OMIM:251110 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Pruritus, Ulcera... |
ORPHA:555905 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Pulmo... |
OMIM:617237 |
| Stt3B-Cdg |
|
Intrauterine growth retardation, Failure to thrive, Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Persistent fetal ci... |
OMIM:618775 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... |
OMIM:619991 |
| Erythrokeratodermia Variabilis |
|
Weight loss, Skin rash, Abnormal testis morphology |
ORPHA:317 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Intrauterine growth retardation, Failure to thrive, Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Renal in... |
OMIM:161200 |
| Cirrhosis, Familial |
|
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Pulmo... |
OMIM:215600 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Bronchiectasis, Hypochromic microcytic anemia, Crohn's disease |
OMIM:619632 |
| Glucagonoma |
|
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac... |
ORPHA:97280 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau... |
OMIM:301068 |
| Foxp1 Syndrome |
|
Failure to thrive, Recurrent otitis media, Abnormal heart morphology, Recurrent skin infections, ... |
ORPHA:391372 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Neonatal death |
OMIM:615918 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Cryptorchidism, Ane... |
ORPHA:67044 |
| Noonan Syndrome 8 |
|
Eczematoid dermatitis, Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age,... |
OMIM:615355 |
| Phenylketonuria |
|
Elevated urinary gamma-glutamylphenylalanine level, Eczematoid dermatitis, Increased level of hip... |
OMIM:261600 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus... |
ORPHA:232 |
| Obesity And Hypopigmentation |
|
Obesity, Hepatic steatosis |
OMIM:620195 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Pancytopenia, Increased circulating antibody level, Iridocyc... |
OMIM:181000 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated circulating hepatic transaminase concentration, Small for gestational age, Failure to th... |
OMIM:613658 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Generalized muscular app... |
OMIM:608594 |
| Immunodeficiency 32A |
|
Recurrent infections, Granuloma, Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... |
ORPHA:42 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis |
OMIM:614204 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, Otitis media, Chronic sinusitis, Recurrent Haemophilus influen... |
OMIM:300455 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... |
ORPHA:731 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Elevated circulating hepat... |
ORPHA:247598 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive... |
OMIM:612379 |
| Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis |
ORPHA:90156 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... |
OMIM:619377 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
ORPHA:369840 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
| Cutaneous Collagenous Vasculopathy |
|
Diffuse telangiectasia, Pruritus, Skin rash |
ORPHA:280779 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration,... |
ORPHA:542323 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Bilateral crypto... |
ORPHA:66634 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Pulmonary arterial hype... |
ORPHA:77261 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Glycerol Kinase Deficiency |
|
Muscular dystrophy, Vomiting, Increased urinary glycerol, Adrenal insufficiency, Chronic pancreat... |
OMIM:307030 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Growth delay, Splenomegaly |
ORPHA:2414 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Failure to thrive, Methylmalonic aciduria, Abnormal heart morphology, ... |
ORPHA:79284 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma, Poor appetite |
ORPHA:312 |
| Biotinidase Deficiency |
|
Diarrhea, Vomiting, Organic aciduria, Skin rash, Splenomegaly, Feeding difficulties in infancy, S... |
OMIM:253260 |
| Acral Peeling Skin Syndrome |
|
Eczematoid dermatitis |
ORPHA:263534 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia |
OMIM:615750 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Recurrent infections, Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteom... |
ORPHA:2314 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Eczematoid dermatitis, Failure t... |
ORPHA:83617 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Asplenia, Chro... |
OMIM:244400 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Short stature, Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
| Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia... |
ORPHA:90041 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Pustule, Neutrophilia, Hepa... |
OMIM:612852 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardation, Abnormality o... |
ORPHA:2169 |
| Hatipoglu Immunodeficiency Syndrome |
|
Atopic dermatitis, Failure to thrive, Eczematoid dermatitis, Recurrent otitis media, Pancytopenia... |
OMIM:620331 |
| Bardet-Biedl Syndrome 19 |
|
Obesity, Hepatic steatosis |
OMIM:615996 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
| Alg8-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Intrauterine growth r... |
ORPHA:79325 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... |
OMIM:106300 |
| Sulfite Oxidase Deficiency, Isolated |
|
Eczematoid dermatitis, Sulfite oxidase deficiency, Sulfocysteinuria, Decreased urinary sulfate, I... |
OMIM:272300 |
| Alg12-Cdg |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Sepsis, Failure to ... |
ORPHA:79324 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Blepharitis, Eczematoid dermatitis, Hypohidrosis |
OMIM:618535 |
| Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Leukopenia, Skin rash, Polyc... |
ORPHA:2298 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Cirrhosis, Hypertension, Hepatic steatosis |
ORPHA:363400 |
| Sapho Syndrome |
|
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsor... |
ORPHA:793 |
| Galactose Mutarotase Deficiency |
|
Cholestasis, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Decreased liver... |
ORPHA:570422 |
| Digeorge Syndrome |
|
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, Cholelithiasis, Parathyroid hypoplasia, ... |
OMIM:188400 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Anemia, Hepatomegaly, D... |
ORPHA:436271 |
| Lig4 Syndrome |
|
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Hypothyroidism, Telangiectasia of the... |
ORPHA:99812 |
| Adiposis Dolorosa |
|
Diarrhea, Xerostomia, Obesity, Hypothyroidism, Constipation, Telangiectasia of the skin, Arthriti... |
ORPHA:36397 |
| Peeling Skin Syndrome 1 |
|
Pruritus, Eosinophilia, Palmoplantar hyperhidrosis, Erythroderma |
OMIM:270300 |
| Sneddon Syndrome |
|
Lymphopenia, Ischemic stroke, Cerebral hemorrhage, Decreased circulating total IgM, Hypertension |
OMIM:182410 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Eczematoid dermatitis |
ORPHA:1810 |
| Pseudo-Torch Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Cerebral hemorrhage, Pleural effusion, T... |
OMIM:617397 |
| Malt Lymphoma |
|
Posterior uveitis, Nausea and vomiting, Weight loss, Constipation, Lymphadenopathy, Hyperhidrosis... |
ORPHA:52417 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Sepsis, Congestive heart failure, H... |
ORPHA:505248 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Pancytopenia, Leukopenia, Pulmonary arterial hypertension, Thrombocytopenia, A... |
OMIM:613845 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis |
OMIM:259730 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Failure to thrive, Eczematoid dermatitis, Skin rash, Pulmonary venous hyper... |
ORPHA:79128 |
| Hepatic Veno-Occlusive Disease |
|
Ascites, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration |
ORPHA:890 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Anemia, Thrombocyto... |
OMIM:251100 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp... |
OMIM:607944 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Transudative pleural effusion, Abnormality of the pulmonary v... |
ORPHA:284227 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczematoid dermatitis, Congenital adrenal hyperplasia, Intrauterine growth retardation, Thrombocy... |
ORPHA:96181 |
| Tufted Angioma |
|
Anemia, Hyperhidrosis, Thrombocytopenia |
ORPHA:1063 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:602390 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Skin rash, Tachycardia, Autoimmune hemolytic anemia, Abnormal urinary color |
ORPHA:90036 |
| Bazex-Dupre-Christol Syndrome |
|
Atopic dermatitis, Hypohidrosis, Acne inversa, Eczematoid dermatitis |
OMIM:301845 |
| Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Systemic lupus erythema... |
ORPHA:48377 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... |
ORPHA:53035 |
| Dermatitis Herpetiformis |
|
Microcytic anemia, Malabsorption, Pruritus, Eczematoid dermatitis |
ORPHA:1656 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Seborrheic dermatiti... |
OMIM:301072 |
| Hypophosphatasia |
|
Anemia, Failure to thrive in infancy, Emphysema, Short stature |
ORPHA:436 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H... |
OMIM:174000 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Hepatosplenomegaly, Mild postnatal growth retardation, Knee osteoarthritis, S... |
ORPHA:85408 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... |
OMIM:613471 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Right ventricular failure, Decreased circulating IgG1 level, Secondary hyper... |
ORPHA:90363 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R... |
ORPHA:221139 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Obesity, Biliary tract abnormality, Arrhythmia, Subvalvular aortic stenosis, Membranous subvalvul... |
ORPHA:3191 |
| Epidermodysplasia Verruciformis |
|
Pustule, Telangiectasia of the skin, Seborrheic dermatitis, Recurrent skin infections |
ORPHA:302 |
| Cogan Syndrome |
|
Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Episcleritis, Leukocytosis,... |
ORPHA:1467 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Failure to thrive, Increased hematocrit, Increased red blood cell mass, Increased ci... |
OMIM:263400 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Intrauterine gro... |
OMIM:251260 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrial septal defect |
OMIM:250220 |
| Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Vomiting, Failure to thrive, Eczematoid dermatitis, Abdominal distention, Celiac diseas... |
OMIM:212750 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Hepatic steatosis, Abdominal obesity |
OMIM:615980 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Hypopituitarism, Cerebral ischemia, Thrombocytopenia, ... |
ORPHA:449285 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased intramuscular fat, Hepatic steatosis, Polycystic ovaries, Hypertension, Hepatomegaly, A... |
OMIM:151660 |
| Acute Disseminated Encephalomyelitis |
|
Myelitis, Vomiting, Herpes simplex encephalitis, Optic neuritis, Nausea, Viral hepatitis |
ORPHA:83597 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia |
OMIM:619433 |
| Hellp Syndrome |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta... |
ORPHA:244242 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:620296 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Pulmonary e... |
ORPHA:79330 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Thrombocytopenia, Growth delay, Hypochromic microcytic anemia |
ORPHA:3240 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Recurrent otitis media, Microcytic anemia, Increased circulating antibody level, Arrhythmia, Incr... |
OMIM:256040 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... |
OMIM:615415 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... |
ORPHA:2330 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Uveitis |
OMIM:617044 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Hematuria,... |
ORPHA:95455 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Pseudopelade Of Brocq |
|
Cheilitis, Recurrent skin infections |
ORPHA:129 |
| Neuraminidase Deficiency |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells... |
OMIM:256550 |
| Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Dilated cardiomyopathy, Recurrent viral infect... |
OMIM:242840 |
| Ichthyosis With Confetti |
|
Hypoplastic nipples, Pruritus, Erythroderma, Decreased body weight |
OMIM:609165 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... |
OMIM:615830 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he... |
OMIM:212138 |
| Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... |
ORPHA:131 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumoniti... |
ORPHA:77293 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrha... |
ORPHA:33226 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
| Cranio-Osteoarthropathy |
|
Osteoarthritis, Eczematoid dermatitis, Arthritis |
ORPHA:1525 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Intrauterine growth retardation, Increa... |
OMIM:616395 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, El... |
ORPHA:288 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Postnatal growth retar... |
ORPHA:79240 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Transient ischemic attack, Reticulocytosis, Schistocytosis, Th... |
OMIM:274150 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased liver function, Abnormal lymph node morphology, Congestive... |
ORPHA:85450 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hepatic steatosis |
OMIM:613877 |
| D-Bifunctional Protein Deficiency |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Primary ... |
OMIM:261515 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Congestive heart failure, Hepatic steatosis, Elevated circulating alkaline phosph... |
ORPHA:52430 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Hypereosinophili... |
ORPHA:449400 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ... |
OMIM:614300 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Growth delay, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature |
OMIM:618541 |
| Icf Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circ... |
ORPHA:2268 |
| Tarp Syndrome |
|
Failure to thrive, Extramedullary hematopoiesis, Horseshoe kidney, Tetralogy of Fallot, Cryptorch... |
ORPHA:2886 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Eczematoid dermatitis, Obesity, Vesicoureteral reflux, Cryptorchidism, Pseudohy... |
ORPHA:464288 |
| Klatskin Tumor |
|
Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Poly... |
ORPHA:528 |
| Lead Poisoning |
|
Chronic kidney disease, Small for gestational age, Vomiting, Abdominal distention, Imbalanced hem... |
ORPHA:330015 |
| Abetalipoproteinemia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Con... |
ORPHA:14 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Hepatic failure, Emphysema, Portal hypertension, Cirrhosis, Short stature |
OMIM:210050 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:600649 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent infections, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decre... |
ORPHA:760 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Multiple muscular ventricular septal defects, Psoriasiform dermatitis, Malabso... |
OMIM:615508 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cryptorchidism, Telan... |
OMIM:615381 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Phoar2-Enteropathy Syndrome |
|
Hyperhidrosis, Seborrheic dermatitis, Acne, Secretory diarrhea |
OMIM:614441 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Obesity, Intrauterine growth retardation, Mitral regurgitation, Hepatic ste... |
ORPHA:254346 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Myocardial i... |
ORPHA:60033 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage,... |
OMIM:193235 |
| Uremic Pruritus |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Elevated total serum tryptase, Stag... |
ORPHA:94059 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... |
ORPHA:2072 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Conjunctivitis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Spl... |
OMIM:263700 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Intrauterine growth retardation, Cryptorchidism, Anemi... |
OMIM:227645 |
| Gracile Syndrome |
|
Cholestasis, Intrauterine growth retardation, Hepatic steatosis, Cirrhosis, Elevated hepatic iron... |
ORPHA:53693 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Anemia, Increased intra... |
OMIM:220110 |
| Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Skin rash, Splenomegaly, Hyperhidrosis, Hepatomegaly, Calcification of muscles |
ORPHA:53715 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... |
OMIM:618528 |
| Autoerythrocyte Sensitization Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Pruritus, Abnormal erythrocyte morpho... |
ORPHA:324636 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... |
OMIM:605479 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Copper accumulation in liver |
ORPHA:209919 |
| Wolfram Syndrome 1 |
|
Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Tes... |
OMIM:222300 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Increased mean corpuscular volume, Secundum atrial septal defect, Recu... |
OMIM:612562 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Vomiting, Inflammatory abnormality of the skin, Failure to thrive, Dilated cardiomyopat... |
OMIM:610768 |
| Zinc Deficiency, Transient Neonatal |
|
Eczematoid dermatitis |
OMIM:608118 |
| Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Abnormal heart morphology, Cr... |
ORPHA:500159 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... |
ORPHA:488618 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Decreased circulating IgA level, Large for gestational age, Cryptorchidism, Thrombocy... |
OMIM:616638 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency... |
OMIM:233450 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Thrombocytopenia, Anemia,... |
OMIM:620654 |
| Adrenomyodystrophy |
|
Short stature, Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive |
ORPHA:977 |
| Morgagni-Stewart-Morel Syndrome |
|
Acne, Obesity, Hypothyroidism, Osteoarthritis, Hypertension |
ORPHA:77296 |
| Neuroblastoma |
|
Increased circulating lactate dehydrogenase concentration, Weight loss, Lymphadenopathy, Thromboc... |
ORPHA:635 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... |
OMIM:615595 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Folliculitis, Keratitis, Blepharitis |
OMIM:612843 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Intrauterine gr... |
OMIM:305000 |
| Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Macroglossia, Cheilitis, Blepharitis, Chronic oral candidiasis |
OMIM:615527 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Dysuria, Polycystic ovar... |
ORPHA:2795 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive, Chroni... |
OMIM:619721 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Intrauterine growth retardation, Ab... |
ORPHA:46059 |
| Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Elevated circulating hepatic transaminase concentration, Acute h... |
OMIM:613070 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Gastroesophageal reflux, Skeletal muscle atrophy, Failure to thrive, Dilated cardiomyopathy, Maln... |
ORPHA:89842 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Leukopenia, Abnormal circulating en... |
ORPHA:2785 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Increa... |
ORPHA:94093 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyelitis, Malabsorption, S... |
ORPHA:2796 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Behcet Syndrome |
|
Iridocyclitis, Raynaud phenomenon, Erythema nodosum, Arthritis, Decreased level of D-mannose in u... |
OMIM:109650 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Abnormal lymphatic vessel morphology, Recurrent skin infections, Hypoplasia of lymphatic vessels |
ORPHA:568051 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Elevated urinary prostaglandin E2 level, Secretory diarrhea, Seborrheic dermatitis, Hyperhidrosis... |
OMIM:167100 |
| Immune Thrombocytopenia |
|
Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Thrombocytopenia, Cerebral hemorrhage |
ORPHA:3002 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hypertension, Hepatic steatosis, Polycystic ovaries |
OMIM:604367 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Conjunctivitis, Folliculitis, Keratitis, Blepharitis |
OMIM:308800 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Decreased methionine... |
OMIM:277400 |
| Zollinger-Ellison Syndrome |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:913 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic... |
ORPHA:228305 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Recurrent otitis media, Failure to thrive in infancy, Postnatal growth retardation, Hypoplastic n... |
ORPHA:261323 |
| Immunoglobulin A Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Episcleritis, Skin rash, R... |
ORPHA:761 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granul... |
OMIM:187900 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Cardiomyopathy, Hepatic steatosis, Neonatal death, Stillbirth, Hepatome... |
OMIM:614922 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... |
ORPHA:464321 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... |
OMIM:227646 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, Duodenal ulc... |
OMIM:147060 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Giant platelets, Failure to thrive in infancy, Postnatal growth retardation, Intraute... |
OMIM:611209 |
| Holocarboxylase Synthetase Deficiency |
|
Vomiting, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Skin rash, Reduced ho... |
OMIM:253270 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| H Syndrome |
|
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Facial... |
ORPHA:168569 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:600901 |
| Asbestos Intoxication |
|
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... |
ORPHA:2302 |
| Recon Progeroid Syndrome |
|
Growth delay, Keratoconjunctivitis sicca, Thrombocytopenia, Anemia, Recurrent infections, Short s... |
OMIM:620370 |
| Poems Syndrome |
|
Polycythemia, Increased circulating prolactin concentration, Primary adrenal insufficiency, Pleur... |
ORPHA:2905 |
| Hypohidrotic Ectodermal Dysplasia |
|
Xerostomia, Eczematoid dermatitis, Failure to thrive, Breast aplasia, Keratoconjunctivitis sicca,... |
ORPHA:238468 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Heart murmur, Skin rash, Pulmonic stenosis |
OMIM:617600 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis |
ORPHA:210548 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... |
OMIM:261680 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Mpdu1-Cdg |
|
Eczematoid dermatitis, Nasogastric tube feeding, Decreased response to growth hormone stimulation... |
ORPHA:79323 |
| Cowden Syndrome 1 |
|
Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Palmoplantar hyperkeratosis... |
OMIM:158350 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Rheumatoid arthritis, Failure to thrive, Knee osteoarthritis, Oligoarthritis, Arthritis, Uveitis |
ORPHA:85410 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hypoplastic sweat glands, Hypohidrosis, Acne inversa, Eczematoid dermatitis |
OMIM:617337 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Failure to thrive, Cardiomyopathy, Postnatal growth retardation, Leukocytosis... |
ORPHA:289157 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat... |
OMIM:616263 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Renal hypoplasia/aplasia, A... |
ORPHA:2538 |
| Alström Syndrome |
|
Chronic kidney disease, Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased ... |
ORPHA:64 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... |
ORPHA:1333 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections, Abnormality of the pan... |
ORPHA:935 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis |
OMIM:228000 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Esophagitis, Hypospadias, Gastroesophageal reflux, Feeding difficulties |
ORPHA:79350 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227650 |
| Netherton Syndrome |
|
Aminoaciduria, Eczematoid dermatitis, Malabsorption, Skin rash, Hydronephrosis, Erythroderma, Ect... |
ORPHA:634 |
| Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Oligoarthritis, Ir... |
ORPHA:85436 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
ORPHA:313855 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly, Short stature |
OMIM:615630 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Malabsorption, Chronic diarrhea, Pustule, Weight loss, Anorexia, Conjunctiviti... |
ORPHA:37 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Scleritis, Weight loss, Anorexia, Tubulointerstitial nephritis, Abdominal pain, Aminoaciduria, Be... |
ORPHA:91500 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Intrauterine growth retardation, Decreased heart rate variability, Cryptorchidism, Decreased body... |
OMIM:619005 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Congestive heart failure, Cholestasis, Failure to thrive in infancy, Tricuspid re... |
ORPHA:746 |
| Deeah Syndrome |
|
Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation test, Panhypo... |
OMIM:619004 |
| Hennekam Syndrome |
|
Chylothorax, Erysipelas, Lymphopenia, Mild postnatal growth retardation, Splenomegaly, Lymphangio... |
ORPHA:2136 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bone marrow hypocellularity, Intestinal bleeding, Postnatal growth retardation, Intrauterine grow... |
OMIM:612199 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... |
OMIM:300367 |
| Galactosemia I |
|
Decreased liver function, Elevated circulating aspartate aminotransferase concentration, Reduced ... |
OMIM:230400 |
| Lyme Disease |
|
Atrioventricular block, Nausea and vomiting, Infectious encephalitis, Arrhythmia, Arthritis, Uveitis |
ORPHA:91546 |
| Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Muscle he... |
ORPHA:903 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... |
OMIM:276700 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Hypothyroidism |
ORPHA:2430 |
| Fixed Drug Eruption |
|
Crusting erythematous dermatitis, Stomatitis |
ORPHA:293812 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis, Erythroderma |
OMIM:604777 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Hyperaldosteronism, Macronodular adrenal... |
ORPHA:189427 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
| Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Leukopenia, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anisoc... |
ORPHA:79277 |
| Erdheim-Chester Disease |
|
Congestive heart failure, Abnormal pericardium morphology, Osteomyelitis, Renal insufficiency, Sk... |
ORPHA:35687 |
| Hemochromatosis, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Ascites, Splenomegaly, Cardiomegaly, Cir... |
OMIM:235200 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Eczematoid dermatitis, Bilateral cryptorchidism, Decreased response to growth hormone stimulation... |
OMIM:618336 |
| Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... |
ORPHA:707 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Pruritus |
ORPHA:79481 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Diarrhea, Vomiting, Failure to thrive, Lower limb muscle weakness, Hypertension, Recurrent pancre... |
OMIM:606721 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Recurrent infections, Neutropenia |
OMIM:620443 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to t... |
OMIM:605814 |
| Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Epistaxis, Eczematoid dermatitis, Increased circulating IgE level... |
OMIM:313900 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Growth delay, Persistence... |
ORPHA:124 |
| Quebec Platelet Disorder |
|
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... |
ORPHA:449432 |
| Hartnup Disease |
|
Neutral hyperaminoaciduria, Abnormal urinary color, Malabsorption, Skin rash, Infectious encephal... |
ORPHA:2116 |
| Lipoid Proteinosis |
|
Pustule, Acne, Dysphagia |
ORPHA:530 |
| Radiation Proctitis |
|
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Crusting erythematous dermatitis, Telangiectasia, Esophageal stricture |
ORPHA:158673 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Von Willebrand Disease, Type 3 |
|
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Subdural hemorrhage, Growth delay,... |
ORPHA:79282 |
| Localized Scleroderma |
|
Vasculitis, Gastroesophageal reflux, Skeletal muscle atrophy, Fasciitis, Esophagitis, Myopathy, H... |
ORPHA:90289 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Na... |
ORPHA:79403 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Hyperhidrosis, Lymphadenopat... |
ORPHA:1332 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:605911 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolac... |
OMIM:131100 |
| Ileal Neuroendocrine Tumor |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu... |
ORPHA:100078 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... |
ORPHA:2357 |
| Occipital Horn Syndrome |
|
Gastroesophageal reflux, Hepatitis, Recurrent urinary tract infections, Cholestasis, Gastroparesi... |
ORPHA:198 |
| Tick-Borne Encephalitis |
|
Myelitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Thro... |
ORPHA:297 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Reduced... |
OMIM:201450 |
| Antiphospholipid Syndrome, Familial |
|
Scleritis, Autoimmune thrombocytopenia, Keratitis, Iritis |
OMIM:107320 |
| Braddock-Carey Syndrome 1 |
|
Growth delay, Thrombocytopenia |
OMIM:619980 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Weight loss... |
OMIM:608710 |
| Bloom Syndrome |
|
Neoplasm of the colon, Stomach cancer, Abnormal proportion of CD8-positive T cells, Telangiectasi... |
ORPHA:125 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
| Arima Syndrome |
|
Hepatic fibrosis, Growth delay, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Hypertension |
OMIM:243910 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation... |
OMIM:602782 |
| Cartilage-Hair Hypoplasia |
|
Neonatal short-limb short stature, Absent pubertal growth spurt, Lymphopenia, Susceptibility to c... |
OMIM:250250 |
| Peeling Skin Syndrome 6 |
|
Atopic dermatitis, Pruritus |
OMIM:618084 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Recurrent pneumonia, Peripheral pulmonary artery stenosis, Atelectasis, Emphyse... |
OMIM:613177 |
| Down Syndrome |
|
Polycythemia, Obesity, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Delaye... |
ORPHA:870 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Arrhythmia, T... |
ORPHA:33001 |
| Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto... |
ORPHA:31150 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Cryptorchidism, ... |
ORPHA:261250 |
| Pseudoxanthoma Elasticum |
|
Nephrocalcinosis, Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Skin rash, Mitral valv... |
ORPHA:758 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Obesity, Acne, Renal agenesis |
ORPHA:247768 |
| Ogden Syndrome |
|
Recurrent otitis media, Torsade de pointes, Postnatal growth retardation, Cryptorchidism, Pulmona... |
OMIM:300855 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Large for gestational age, Cryptorchidism, Thrombocytopenia, Short s... |
OMIM:610733 |
| Meningococcal Meningitis |
|
Hypotension, Shock, Renal insufficiency, Skin rash, Infectious encephalitis, Anorexia, Projectile... |
ORPHA:33475 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
ORPHA:404454 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Short stature, Lymphopenia |
ORPHA:391307 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypotension, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradyc... |
ORPHA:70587 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Intrauterine growth retardation, Leukocytosis, Hepatic steatosis, Hypo... |
OMIM:619321 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Ventricular arrhythmia, Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Bloody diarrhea, Psoriasiform dermatitis, Recurrent gastroenteritis, Pustule, Left v... |
ORPHA:294023 |
| Ivic Syndrome |
|
Severe short stature, Arrhythmia, Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Classic Phenylketonuria |
|
Nausea and vomiting, Eczematoid dermatitis |
ORPHA:79254 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Gastrointestinal dysmotility, Recurrent skin infections, Hypohidrosis |
OMIM:616488 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertension, Hepatic steatosis |
OMIM:615238 |
| Papillon-Lefèvre Syndrome |
|
Periodontitis, Pustule, Chronic furunculosis, Recurrent skin infections, Recurrent cutaneous absc... |
ORPHA:678 |
| Juvenile Xanthogranuloma |
|
Hyphema, Iritis, Myeloproliferative disorder, Blepharitis, Uveitis |
ORPHA:158000 |
| Garg-Mishra Progeroid Syndrome |
|
Short stature, Postnatal growth retardation, Increased circulating lactate dehydrogenase concentr... |
OMIM:620601 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Bronchopulmonary Dysplasia |
|
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... |
ORPHA:70589 |
| Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... |
ORPHA:276152 |
| Kid Syndrome |
|
Posterior blepharitis, Folliculitis, Failure to thrive, Acne inversa, Keratitis, Psoriasiform der... |
ORPHA:477 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal... |
OMIM:263200 |
| Leigh Syndrome |
|
Myopathy, 3-Methylglutaconic aciduria, Ventricular septal defect, Neutropenia, Nephrotic syndrome... |
ORPHA:506 |
| Dubowitz Syndrome |
|
Recurrent infections, Eczematoid dermatitis, Postnatal growth retardation, Intrauterine growth re... |
ORPHA:235 |
| Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Short stature |
OMIM:620072 |
| Wolcott-Rallison Syndrome |
|
Elevated circulating hepatic transaminase concentration, Growth delay, Acute hepatic failure, Asc... |
ORPHA:1667 |
| 22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Hypoparathyroidism, Chronic otitis media, Cholelithiasis, Gastrointestinal hemorr... |
ORPHA:567 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... |
OMIM:613280 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Increased circulating lactate dehydrogenase concentration, Pulmonary embolism, Budd-Chiari syndro... |
ORPHA:447 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Estrogen Resistance |
|
Breast aplasia, Acne, Elevated alkaline phosphatase of bone origin, Polycystic ovaries |
OMIM:615363 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocyto... |
OMIM:614074 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Abnormal lung lobation, Intrauterine growth retardation, Thrombocytopenia, Growt... |
OMIM:300514 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Decreased muscle mass, Renal dysplasia, Dec... |
ORPHA:96182 |
| Hereditary Hyperekplexia |
|
Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:3197 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Leukocytosis, Pancolitis, Eosinophili... |
OMIM:618213 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
OMIM:618329 |
| Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Obesity, Hepatic steatosis, Growth delay, Pulmonic stenosis |
ORPHA:96168 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Elevated circula... |
OMIM:608836 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Growth delay, Eczematoid dermatitis, Failure to thrive, Abnormal lung ... |
OMIM:270400 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hypothyr... |
ORPHA:1439 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abno... |
OMIM:601399 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis... |
ORPHA:60032 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... |
ORPHA:99228 |
| Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... |
ORPHA:99226 |
| Turner Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... |
ORPHA:881 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Camptodactyly of finger, Esophagit... |
ORPHA:2908 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Recurrent pneumonia, Disproportionate short stature, Decreased p... |
ORPHA:508533 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
OMIM:124000 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Weight loss,... |
ORPHA:309031 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Cockayne Syndrome Type 1 |
|
Diarrhea, Foot joint contracture, Failure to thrive, Elevated circulating hepatic transaminase co... |
ORPHA:90321 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... |
OMIM:275350 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... |
ORPHA:79127 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... |
OMIM:105650 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio... |
ORPHA:367 |
| Meconium Aspiration Syndrome |
|
Atelectasis, Aspiration pneumonia, Intrauterine growth retardation, Pulmonary arterial hypertensi... |
ORPHA:70588 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Recurrent sinopulmona... |
ORPHA:647 |
| Meige Disease |
|
Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infections, Absence of... |
ORPHA:90186 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Hy... |
ORPHA:309854 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Acne, Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... |
OMIM:257220 |
| Livedoid Vasculopathy |
|
Graves disease, Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Superficial dermal per... |
ORPHA:542643 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Esophagitis |
ORPHA:3348 |
| Multiple Myeloma |
|
Pleural effusion, Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, An... |
ORPHA:29073 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... |
ORPHA:70591 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Hepatic calcification, Arrhythmia, Reduced ti... |
ORPHA:228308 |
| Prolidase Deficiency |
|
Splenomegaly, Recurrent cystitis, Crusting erythematous dermatitis, Hepatomegaly, Pruritus |
ORPHA:742 |
| Bcard Syndrome |
|
Postnatal growth retardation, Arterial rupture, Intrauterine growth retardation, Thrombocytopenia |
OMIM:612394 |
| Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Atelectasis, Intrauterine growth retardation, Splenomegaly, Neonatal death, ... |
OMIM:269860 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Vomiting, Diarrhea, Dilated cardiomyopathy, Pancytopenia, Skin rash, Left ventricular hypertrophy... |
OMIM:618321 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Increased circulating lactate dehydrogenase concentration, Atelectasis, Pulmonary ... |
ORPHA:254361 |
| Estrogen Resistance Syndrome |
|
Elevated tissue non-specific alkaline phosphatase, Breast hypoplasia, Enlarged polycystic ovaries... |
ORPHA:785 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cong... |
OMIM:617156 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... |
ORPHA:348 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrophic cardiomy... |
ORPHA:17 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Bone marrow hypocellularity, Annular pancreas, Eczematoid dermatitis, Intr... |
ORPHA:2308 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Elbow contracture, Knee flexion contr... |
OMIM:618162 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Esophag... |
OMIM:615356 |
| Pachyonychia Congenita 2 |
|
Angular cheilitis, Folliculitis, Palmoplantar hyperhidrosis |
OMIM:167210 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy, Disproportionate short-limb short stature, Lymphopenia, Intrauterine grow... |
OMIM:616541 |
| Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Decreased circulating antibody level, Leukocytosis, Eosinophilia, Seborrheic ... |
OMIM:274000 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Nephritis, Hypertension, Thrombocytopenia |
OMIM:301050 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:435660 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Ascites, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegal... |
OMIM:226300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Hypertension |
OMIM:235400 |
| Argininemia |
|
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Postnatal growth retardation, Hepatomegaly,... |
OMIM:207800 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Protein-losing enteropathy, Joint contracture of the hand, Erysipelas, Intestinal lymphangiectasi... |
OMIM:235510 |
| Milroy Disease |
|
Hydrocele testis, Erysipelas |
ORPHA:79452 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... |
ORPHA:93111 |
| Jacobsen Syndrome |
|
Annular pancreas, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Thrombocyto... |
OMIM:147791 |
| Sjogren Syndrome |
|
Rheumatoid arthritis, Autoimmunity |
OMIM:270150 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:614924 |
| Chikungunya |
|
Epistaxis, Diarrhea, Vomiting, Cervical lymphadenopathy, Skin rash, Infectious encephalitis, Crus... |
ORPHA:324625 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Renal insufficiency... |
OMIM:203300 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology |
ORPHA:319487 |
| Thrombocytopenia 6 |
|
Thrombocytopenia, Spontaneous, recurrent epistaxis |
OMIM:616937 |
| Reni Syndrome |
|
Lymphopenia, Adrenal insufficiency, Hypothyroidism, Cryptorchidism |
OMIM:617575 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Esophagitis, Megaloblastic anemia, Feeding ... |
ORPHA:79351 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Bronchiectasis, Pulmona... |
OMIM:619708 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, Acute hepatic steatosi... |
OMIM:210200 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology |
ORPHA:97290 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulati... |
ORPHA:95159 |
| Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Recurrent infections, Microvesicular hepatic steatosis |
OMIM:619273 |
| Xylt1-Cdg |
|
Hepatomegaly, Acne, Truncal obesity |
ORPHA:370930 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Growth delay, Hemolytic anemia, Splenomegaly, Hepatomegaly, Jaundice, Short stature |
OMIM:608885 |
| Fanconi-Bickel Syndrome |
|
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
| 1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Annular pancreas, Failure to thrive, Abnormality of the spleen, Abnormali... |
ORPHA:1606 |
| Mhc Class I Deficiency 1 |
|
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie... |
OMIM:604571 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Otitis media, Chronic rhinitis, Pulmonary artery stenosis, Anemia, Pulmonary arteri... |
ORPHA:667 |
| Fabry Disease |
|
Atrioventricular block, Congestive heart failure, Emphysema, Hypertrophic cardiomyopathy, Bundle ... |
ORPHA:324 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Postnatal growt... |
OMIM:619127 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Cardiomyopathy, Abnormal circulating enzyme concentration or act... |
ORPHA:572798 |
| Esophageal Atresia |
|
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Renal agenesis,... |
ORPHA:1199 |
| Distal Duplication 5Q |
|
Eczematoid dermatitis, Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallb... |
ORPHA:96097 |
| Fanconi Anemia |
|
Growth delay, Recurrent urinary tract infections, Hypertrophic cardiomyopathy, Abnormality of the... |
ORPHA:84 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly |
ORPHA:33577 |
| Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Thrombocytopenia, Recurrent infections, Pulmonic stenosis, Increased mean platele... |
OMIM:616737 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Lymphopenia, Cryptorchidism, Hyperhidrosis, Sh... |
OMIM:619745 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Thrombocytopenia, Anemia, Heart murmur, Intracranial hemorrha... |
ORPHA:163979 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Decreased response to growth hormone stimulation t... |
OMIM:610978 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Subarachnoid hemorrhage, Melen... |
ORPHA:853 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Gastroesophageal reflux, Eczematoid dermatitis, Urinary retention, Chronic constipation, Gastroin... |
OMIM:617799 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Anterior pituitary hypoplasia, ... |
ORPHA:464306 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Short stature, Thrombocytopenia |
OMIM:619743 |
| Prader-Willi Syndrome |
|
Small pituitary gland, Vomiting, Periodontitis, Failure to thrive, Erysipelas, Xerostomia, Decrea... |
ORPHA:739 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Hyperhidrosis, Eczematoid dermatitis, Arthritis |
OMIM:259100 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Epistaxis, Thrombocytopenia |
OMIM:273900 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Recurrent pneumonia, Anoperineal fistula, Failure to thrive, Chapped lip, Recurrent skin infectio... |
ORPHA:158668 |
| Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... |
OMIM:607625 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Acne |
OMIM:158330 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Total anomalous pulmonary venous return, Postnatal growth retardation, Abnormality of the lymphat... |
ORPHA:487796 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Adrenal overactivity, Pheochromocytoma, Hypertension, Arrhythmia, Ly... |
ORPHA:139411 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia, Spontaneous, recurrent epistaxis |
OMIM:620484 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ... |
ORPHA:99889 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Eczematoid dermatitis, Failure to thrive, Obesity, Mitral valve prolapse, Abnormality of the pine... |
ORPHA:369950 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
| Aymé-Gripp Syndrome |
|
Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Proteinuria, Camptodactyly, P... |
ORPHA:1272 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
| Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Lymphopenia, Intrauterine growth retardation, Neutrop... |
OMIM:618460 |
| Cushing Disease |
|
Increased circulating cortisol level, Lymphopenia, Capillary fragility, Leukocytosis, Adrenal hyp... |
ORPHA:96253 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Rothmund-Thomson Syndrome |
|
Diarrhea, Aplastic anemia, Vomiting, Malar rash, Skin rash, Anemia, Telangiectasia of the skin, N... |
ORPHA:2909 |
| Aromatase Deficiency |
|
Obesity, Eunuchoid habitus, Hepatic steatosis, Cryptorchidism, Enlarged polycystic ovaries, Macro... |
ORPHA:91 |
| Gaucher Disease, Type Iiic |
|
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231005 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leukocytosis, Portal vein thromb... |
ORPHA:729 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Failure to thrive,... |
OMIM:619475 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Acne, Testicular neoplasm, Bilateral cryptorchidism |
ORPHA:99429 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Pleural effusion, Normochromic anemia |
OMIM:254900 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
| Atelis Syndrome 2 |
|
Vitreous hemorrhage, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis |
OMIM:620185 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Thrombocytopenia, Decreased liver function |
OMIM:620423 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Intrauterine growth retardation, Cryptorchidism, Otitis media, Hypoplastic nipples, Th... |
OMIM:122470 |
| Biotinidase Deficiency |
|
Organic aciduria, Eczematoid dermatitis, Limb muscle weakness, Skin rash, Decreased circulating b... |
ORPHA:79241 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypotension, Eczematoid dermatitis, Congestive heart failure, Arrhythmia, Hyper... |
ORPHA:428 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Spontaneou... |
ORPHA:274 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Small pituitary gland, Atopic dermatitis, Failure to thrive, Cholestasis, Recurrent otitis media,... |
OMIM:619503 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Periodontitis, Failure to thrive, Atelectasis, Hyperaldosteronism, Cryptorch... |
ORPHA:534 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney |
OMIM:200995 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Distal lower limb amyotrophy, Gastrostomy tube feeding in infancy, Anemia, Rec... |
ORPHA:79396 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Long penis, Intracranial hemorrhage, Polycystic o... |
ORPHA:90795 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Hepatic failure, Abnormal pulse pressure, Sinus tachycardia, Decreased liver functio... |
ORPHA:466650 |
| Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
ORPHA:110 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Eczematoid dermatitis, Failure to thrive, Hypertrophic cardiomyopathy, Larg... |
OMIM:607721 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ... |
OMIM:229600 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Failure to thrive, Congestive heart failure, Hepatic steatosis, Abnormalit... |
ORPHA:79474 |
| Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Eczematoid dermatitis, Abnormality of the urethra, Camptodactyly of finger, Pustule, ... |
ORPHA:2907 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Increased circulating lactate dehydrogenase concentration, Failure to thrive, Atelect... |
ORPHA:365 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Elevated circulating alkaline phosphatase concentration, Microvesicula... |
OMIM:300868 |
| Adult Syndrome |
|
Absent nipple, Eczematoid dermatitis, Breast hypoplasia, Hypoplastic nipples, Conjunctivitis |
OMIM:103285 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Skin rash |
ORPHA:220295 |
| Somatostatinoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... |
ORPHA:97283 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis,... |
ORPHA:538 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration, Parathyroid adenoma |
ORPHA:122 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Esophagitis, Cryptorchidism, Telangiectasia, Constipation, Abnormality of the kidney, ... |
ORPHA:495818 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... |
OMIM:612301 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:1901 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Unilateral cryptorchidism, Atelectasis, Bilateral cryptorchidism |
OMIM:300219 |
| Amoebic Keratitis |
|
Scleritis, Anterior uveitis |
ORPHA:67043 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Recurrent infections, Intrauterine growth retardation, Hepatic steatosis |
OMIM:619934 |
| Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas... |
ORPHA:97261 |
| Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
| Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas... |
ORPHA:97278 |
| Pitt-Hopkins Syndrome |
|
Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, Esophagitis, Cryptorchidism, Hi... |
ORPHA:2896 |
| Vipoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... |
ORPHA:97282 |
| Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology |
ORPHA:677 |
| Noonan Syndrome 1 |
|
Chylothorax, Juvenile myelomonocytic leukemia, Failure to thrive in infancy, Hypertrophic cardiom... |
OMIM:163950 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Hype... |
ORPHA:786 |
| Ellis Van Creveld Syndrome |
|
Acute leukemia, Neonatal short-limb short stature, Failure to thrive, Emphysema, Intrauterine gro... |
ORPHA:289 |
| Leprosy |
|
Epistaxis, Uveitis, Skeletal muscle atrophy, Testicular mass, Abnormality of the spleen, Abnormal... |
ORPHA:548 |
| Monosomy 22Q13.3 |
|
Gastroesophageal reflux, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Nausea and vom... |
ORPHA:48652 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Arterial rupture... |
OMIM:130050 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
| Meier-Gorlin Syndrome 4 |
|
Failure to thrive, Emphysema, Breast hypoplasia, Intrauterine growth retardation, Cryptorchidism,... |
OMIM:613804 |
| Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Increased circulating prolactin concentration, Recurrent urinary tract infecti... |
ORPHA:3455 |
| Ayme-Gripp Syndrome |
|
Camptodactyly, Pericarditis |
OMIM:601088 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Rhizomelia, Cerebral hemorrhage, Intrauterine growth retardation, Hyperhidr... |
ORPHA:666 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Eczematoid dermatitis, Failure to thrive, Camptodactyly of finger, Hydroureter, Episcl... |
ORPHA:2273 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Vomiting, Long penis, Failure to thrive, Hypernatriuria, Shock, Decreased testicular... |
ORPHA:90794 |
| Roberts Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Thrombocytopenia, Severe intrauterine growth retard... |
ORPHA:3103 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Aplasia of the ovary, Impair... |
ORPHA:79318 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
| Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Hypertension, Lung adenocarcinoma |
OMIM:618913 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, R... |
ORPHA:90349 |
| Meier-Gorlin Syndrome 6 |
|
Severe short stature, Failure to thrive, Emphysema, Decreased response to growth hormone stimulat... |
OMIM:616835 |
| Retinoblastoma |
|
Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Leiomyosar... |
ORPHA:790 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Mitral regurgitation, Microvesicular hepatic stea... |
OMIM:220111 |
| Aspartylglucosaminuria |
|
Macroglossia, Diarrhea, Aspartylglucosaminuria, Mitral regurgitation, Reduced tissue aspartylgluc... |
OMIM:208400 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Congestive heart failure, Emphysema, Mitral regurgitation, Abnormality of ... |
ORPHA:363618 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa... |
ORPHA:95430 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Postnatal growth retardation, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia |
ORPHA:536467 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusi... |
OMIM:615067 |
| Viss Syndrome |
|
Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Failure to thrive, Increased... |
OMIM:619472 |
| Loeys-Dietz Syndrome 4 |
|
Emphysema, Eosinophilic infiltration of the esophagus, Pneumothorax |
OMIM:614816 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Congestive heart failu... |
ORPHA:90348 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Meier-Gorlin Syndrome 1 |
|
Failure to thrive, Emphysema, Breast hypoplasia, Intrauterine growth retardation, Cryptorchidism,... |
OMIM:224690 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Emphysema, Failure to thrive in infancy, Transient ischemic atta... |
ORPHA:500150 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... |
OMIM:123700 |
| Homozygous Familial Hypercholesterolemia |
|
Supravalvular aortic stenosis, Mitral regurgitation, Hepatic steatosis, Hypertension, Angina pect... |
ORPHA:391665 |
| Marfan Syndrome |
|
Aortic regurgitation, Spontaneous pneumothorax, Pulmonary artery dilatation, Congestive heart fai... |
ORPHA:558 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Emphysema, Supravalvular aortic steno... |
OMIM:219100 |
| Neonatal Marfan Syndrome |
|
Emphysema, Decreased testicular size, Tricuspid regurgitation, Mitral regurgitation, Heart murmur... |
ORPHA:284979 |
| Marfan Syndrome |
|
Aortic regurgitation, Pulmonary artery dilatation, Congestive heart failure, Emphysema, Premature... |
OMIM:154700 |
| Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
| Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphys... |
OMIM:245150 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
| Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Tricuspid regurgitation, Neona... |
OMIM:614437 |
| Chand Syndrome |
|
Hypohidrosis, Atelectasis |
ORPHA:1401 |
