| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Abdominal pain |
OMIM:118830 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Lymphadenopathy, Arthritis... |
ORPHA:69126 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... |
ORPHA:139402 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,... |
OMIM:253600 |
| Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
| Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepa... |
ORPHA:39812 |
| Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... |
OMIM:300635 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... |
OMIM:619858 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Abdomina... |
OMIM:142680 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... |
ORPHA:829 |
| Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis, Muscul... |
ORPHA:3165 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... |
ORPHA:567544 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Raynaud phenomenon, Myocarditis, ... |
ORPHA:206569 |
| Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... |
OMIM:608971 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Oliguria,... |
ORPHA:188 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Vomi... |
ORPHA:37042 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... |
OMIM:618999 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Pruritus, Jaundice,... |
ORPHA:65682 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
| American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... |
ORPHA:3386 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythro... |
ORPHA:169160 |
| Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, My... |
ORPHA:549 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Scrub Typhus |
|
Nausea and vomiting, Anterior uveitis, Renal insufficiency, Skin rash, Abdominal pain, Myocarditi... |
ORPHA:83317 |
| Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
| Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... |
OMIM:615285 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C... |
ORPHA:810 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak... |
ORPHA:565899 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, T... |
OMIM:617591 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... |
OMIM:613779 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, He... |
OMIM:308230 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
| Mannose-Binding Lectin Deficiency |
|
Failure to thrive, Recurrent skin infections |
OMIM:614372 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Short stature, Abscess, Perianal abscess, Lymphadenopathy, Hepat... |
OMIM:618935 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Vomiting, Nephritis, Abdominal pain, Pericardial effusion, Raynaud phenomen... |
ORPHA:93552 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Reduced systolic function, Microcytic anemia, Chronic... |
OMIM:618805 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocardial infarctio... |
ORPHA:3452 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, F... |
ORPHA:79312 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
| Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... |
ORPHA:809 |
| Myositis |
|
Myositis |
OMIM:160750 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... |
ORPHA:47 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep... |
ORPHA:36234 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Abnormality... |
ORPHA:2552 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Lymphopenia, Skin rash, Failure to thrive, Follicular hyperpla... |
OMIM:615934 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Elevated... |
OMIM:615422 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Flexi... |
OMIM:619183 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l... |
OMIM:619164 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia |
ORPHA:48104 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure, Dysphagia |
ORPHA:2724 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Q Fever |
|
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious... |
ORPHA:781 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... |
OMIM:603552 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Leukocytosis, Throm... |
ORPHA:292 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Abse... |
ORPHA:277 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S... |
ORPHA:32960 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Immunodeficiency 102 |
|
Sepsis, Leukopenia, Decreased circulating IgG level, Hypothyroidism, Hepatomegaly, Partial absenc... |
OMIM:301082 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Ap... |
OMIM:308240 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Sepsis, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... |
ORPHA:572 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
| Rheumatic Fever |
|
Nausea and vomiting, Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Anorexi... |
ORPHA:3099 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... |
ORPHA:47612 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Pruritus, Myocarditis, Xer... |
ORPHA:81 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Recurrent respiratory infections, Short stature, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen... |
ORPHA:158061 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Eleva... |
OMIM:614480 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Brucellosis |
|
Liver abscess, Anorexia, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liver... |
ORPHA:1304 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Anorexia, Ele... |
OMIM:619386 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary a... |
ORPHA:589 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th... |
ORPHA:229717 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Intermittent jaundice, P... |
OMIM:243300 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... |
ORPHA:397596 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Hypertension, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
| Complement Component 4B Deficiency |
|
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... |
OMIM:614379 |
| Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Decreased proportion of class-switched memory B cells, Inflammation of the large... |
OMIM:615767 |
| Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Renal insuffici... |
ORPHA:99845 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Microscopic Polyangiitis |
|
Sinusitis, Uveitis, Gastrointestinal infarctions, Glomerulopathy, Abdominal pain, Vasculitis, Oli... |
ORPHA:727 |
| Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... |
OMIM:226990 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
| C1Q Deficiency 3 |
|
Discoid lupus rash |
OMIM:620322 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... |
OMIM:620282 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Glomerulo... |
ORPHA:117 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple... |
OMIM:603554 |
| Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Poor appetite, Fee... |
OMIM:606054 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... |
OMIM:619126 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Leuko... |
ORPHA:764 |
| Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Griscelli Syndrome |
|
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymph... |
ORPHA:381 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Mahvash Disease |
|
Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia, Abdominal pain |
OMIM:619290 |
| Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,... |
ORPHA:90291 |
| Lujo Hemorrhagic Fever |
|
Fulminant hepatitis, Odynophagia, Hyperhidrosis, Leukopenia, Vomiting, Nausea, Maculopapular exan... |
ORPHA:319213 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... |
OMIM:127550 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... |
OMIM:613812 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb... |
OMIM:615010 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, Recurrent bacterial infections |
OMIM:619437 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Failure to thrive, Complete ... |
OMIM:607271 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa... |
ORPHA:69663 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Rec... |
OMIM:209920 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Sepsis, T lymphocytopenia, Leukopenia, Neutropenia, D... |
OMIM:618986 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... |
OMIM:618963 |
| Kawasaki Disease |
|
Sterile pyuria, Conjunctivitis, Cholecystitis, Abdominal pain, Leukocytosis, Vasculitis, Hepatiti... |
ORPHA:2331 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... |
OMIM:619824 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
| Immunodeficiency 48 |
|
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrh... |
OMIM:269840 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... |
OMIM:613011 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:618204 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp... |
OMIM:620210 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Thrombocytopenia, Intrauterine growth retardation |
OMIM:189800 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Short stature, Eczema, Rhizomelia, Decreased circulating antibo... |
OMIM:618116 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respiratory tract infect... |
OMIM:618459 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... |
OMIM:614700 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... |
OMIM:300400 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubu... |
OMIM:251000 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:1980 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Intrauterine growth retardation, Short stature, Minimal ch... |
ORPHA:1830 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegal... |
OMIM:607765 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... |
OMIM:603909 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Skin rash, Short stature, Diffuse alveolar hemorrhage, Reduced n... |
OMIM:616050 |
| Listeriosis |
|
Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, ... |
ORPHA:533 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis, Abdominal pain |
OMIM:620137 |
| Relapsing Polychondritis |
|
Episcleritis, Abnormal endocardium morphology, Pericarditis, Glomerulopathy, Renal insufficiency,... |
ORPHA:728 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ... |
ORPHA:79124 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... |
ORPHA:169154 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Dysphagia |
OMIM:618230 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Ne... |
ORPHA:398124 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
| Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis |
OMIM:614380 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f... |
ORPHA:108 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Nephrolithiasis, Papillary renal cell carcinoma, ... |
OMIM:145001 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:616022 |
| Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adeno... |
ORPHA:3392 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... |
ORPHA:2686 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
| Juvenile Dermatomyositis |
|
Calcinosis, Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Bundle branch block, ... |
ORPHA:93672 |
| Yao Syndrome |
|
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal... |
OMIM:617321 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, T lymphocytopenia, Arthritis, B... |
OMIM:601457 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Con... |
ORPHA:99827 |
| Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn... |
ORPHA:228119 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, ... |
OMIM:619487 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thri... |
OMIM:618278 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... |
ORPHA:276 |
| Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
| Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasc... |
ORPHA:50918 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Cardiac shunt |
OMIM:305800 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosp... |
OMIM:209950 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... |
ORPHA:100024 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Gastrointestinal ... |
ORPHA:342 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abdominal symptom, Abnormality of the testis size, Renal cyst, El... |
ORPHA:400 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Decreased circulating IgG3 level, Recurrent viral upper respira... |
OMIM:619773 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... |
ORPHA:169079 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Mele... |
ORPHA:319218 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Sepsis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepat... |
ORPHA:480520 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Short stature, Splenomegaly, Recurrent upper respiratory tract i... |
OMIM:616005 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
| Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Melioidosis |
|
Shock, Foot osteomyelitis, Unusual skin infection, Liver abscess, Pneumonia, Abnormality of the s... |
ORPHA:31202 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... |
OMIM:618495 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... |
OMIM:616740 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin... |
ORPHA:656 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... |
OMIM:616100 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... |
ORPHA:85414 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
| Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
| Systemic Lupus Erythematosus 17 |
|
Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Malar ras... |
OMIM:301080 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
| Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Congestive heart failure, Peritonitis, M... |
ORPHA:139507 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Lymphadenopa... |
ORPHA:858 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ... |
OMIM:242700 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Knee flexion co... |
OMIM:604416 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P... |
ORPHA:436159 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... |
ORPHA:565612 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrot... |
OMIM:105200 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Mesangial hypercellularity, Crescentic glomerulonephritis, Pulmonary hemorrhage |
OMIM:616414 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform der... |
OMIM:606367 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... |
ORPHA:98850 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions... |
ORPHA:544482 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... |
OMIM:614470 |
| Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ... |
ORPHA:93126 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocytopenia, Hepatitis... |
ORPHA:391487 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Pulmonary embolism, Minimal change glomeru... |
ORPHA:567548 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
| Immunodeficiency 56 |
|
Failure to thrive, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Recurrent ... |
OMIM:615207 |
| Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
| Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Short stature, Recurrent viral infections, Postna... |
OMIM:609981 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding di... |
ORPHA:3260 |
| Bullous Impetigo |
|
Recurrent bacterial skin infections, Glomerulopathy, Pustule, Abnormality of the lymphatic system... |
ORPHA:36237 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diar... |
OMIM:614602 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Pro... |
OMIM:613404 |
| Simple Cryoglobulinemia |
|
Myocardial infarction, Mesangial hypercellularity, Nephritis, Membranoproliferative glomeruloneph... |
ORPHA:91139 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome... |
OMIM:618348 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Nephrocalcinosis, Aminoaciduria, Elevated gamma-glutamyltransferase level, ... |
OMIM:208085 |
| Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Helicobacter pylori infection, Small fo... |
ORPHA:275555 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, D... |
OMIM:307200 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... |
ORPHA:171 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Splenomegaly, Abnormality of skeletal muscle fiber size, Congestive... |
ORPHA:2348 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... |
OMIM:617021 |
| Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Chronic ... |
ORPHA:33355 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Feeding difficult... |
OMIM:301006 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Recurrent infections, ... |
OMIM:618261 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... |
ORPHA:100026 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... |
ORPHA:227990 |
| Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Congestive heart failure, Pneumothorax, Hepatitis, Seps... |
ORPHA:454836 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophageal reflux, Neutropenia, Chro... |
ORPHA:443811 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Pure r... |
OMIM:613179 |
| Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Cachexia... |
ORPHA:77297 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... |
ORPHA:227982 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron... |
OMIM:618108 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Vasc... |
ORPHA:83313 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
| Colchicine Poisoning |
|
Renal insufficiency, Myocarditis, Leukocytosis, Diarrhea, Hypovolemia, Congestive heart failure, ... |
ORPHA:31824 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
| Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Leukocytosis, Jaundice, Re... |
ORPHA:676 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car... |
OMIM:232220 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
| Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... |
OMIM:620010 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Splenomegaly, Intraalveolar phospholipid accumulation, Anemia, Leuko... |
OMIM:222700 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Torticollis, Anorexia, Pruritus, Abdominal distent... |
ORPHA:370348 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Elevated circ... |
OMIM:214900 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... |
ORPHA:1572 |
| Cach Syndrome |
|
Flexion contracture, Renal hypoplasia, Hepatosplenomegaly, Feeding difficulties, Optic neuritis, ... |
ORPHA:135 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia |
OMIM:606069 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Abnormality of the kidney, Arthritis, Malar rash, Abnormal renal physiology |
OMIM:609939 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased beta-glucocerebrosidase level,... |
OMIM:231000 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Incre... |
ORPHA:1163 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... |
ORPHA:99931 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Short... |
OMIM:613385 |
| Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... |
ORPHA:1320 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... |
OMIM:269200 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber s... |
ORPHA:79083 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Nausea, Jaundice, Malnutrition, Weight loss, Chronic calcifying pancre... |
ORPHA:103918 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... |
ORPHA:892 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intr... |
OMIM:610333 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... |
ORPHA:98826 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Tachycardia, Abdominal colic, Nausea, Abdominal pain, ... |
ORPHA:521219 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia,... |
ORPHA:290 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Short stature, Hepatomegaly |
ORPHA:417 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasis, B... |
OMIM:615518 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Eczema, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Anorexia, Large vessel vasculitis, Hashimoto thyroiditis, Psoriasiform dermati... |
ORPHA:49041 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Incr... |
ORPHA:37748 |
| Carcinoid Syndrome |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri... |
ORPHA:100093 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Rhizomelia, Thrombocytopenia |
OMIM:166990 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent respiratory infect... |
OMIM:615387 |
| Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, I... |
OMIM:231100 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:614727 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia |
ORPHA:721 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Prolidase Deficiency |
|
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly... |
OMIM:170100 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Neonatal sepsis, Fatal liver failure in infancy, Failure to thrive... |
ORPHA:263501 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Chronic ... |
ORPHA:90280 |
| Galactose Epimerase Deficiency |
|
Growth delay, Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Renal insuffic... |
ORPHA:36426 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ... |
OMIM:619381 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Fulminant hepatitis, Jaundice... |
OMIM:618549 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea... |
OMIM:618394 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Hemoglob... |
ORPHA:90038 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive in infancy, ... |
OMIM:619510 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hemolytic ane... |
OMIM:615846 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Short stature, Microcytic anemia, Hypothyroidism, Abnormal pulmona... |
OMIM:619013 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to... |
OMIM:615438 |
| Forsythe-Wakeling Syndrome |
|
Growth delay, Short stature, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertension |
OMIM:608600 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... |
ORPHA:210136 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural ... |
ORPHA:540 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... |
OMIM:612541 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly... |
OMIM:614576 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Atopic dermatitis, Decreased proportion of class-switched memory B cel... |
OMIM:618944 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Failure to... |
OMIM:229050 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
| Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Pruritus, Diarrhea, Flexio... |
ORPHA:231 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Decreased activity of NADPH oxidase, Organic aciduria, Aspiration pneumon... |
ORPHA:431361 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Primary adrenal insufficiency, Hepatic failure, Failure to thrive, He... |
OMIM:617872 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... |
ORPHA:87503 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit... |
OMIM:611762 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Lymphadenopathy, Increa... |
ORPHA:98848 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive |
OMIM:610247 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis, Hypohidrosis |
ORPHA:363523 |
| Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Cardiomyo... |
ORPHA:258 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormal lym... |
ORPHA:543 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis,... |
OMIM:617638 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... |
OMIM:619705 |
| Postinfectious Vasculitis |
|
Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocardit... |
ORPHA:48435 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased ... |
OMIM:614069 |
| Rhabdoid Tumor |
|
Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Hypertension, Internal hemorrhage, T... |
ORPHA:69077 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Renal insuffic... |
ORPHA:537 |
| Familial Chylomicronemia Syndrome |
|
Nausea and vomiting, Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosp... |
ORPHA:444490 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
| 5-Oxoprolinase Deficiency |
|
Calcium oxalate nephrolithiasis, Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase ... |
OMIM:260005 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Hyperkeratosis, Abnormal lymphocy... |
ORPHA:2584 |
| Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Skin rash, Feeding difficulties |
ORPHA:26 |
| Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc... |
ORPHA:98813 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613736 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... |
ORPHA:26790 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Malar rash, Gastroesophageal reflux, Decreased body weight |
OMIM:618097 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem... |
OMIM:617780 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema, Porphyrinuria |
OMIM:176090 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Prolonged QTc interval, Anemia, Hematuria, Malar rash, Serosi... |
ORPHA:231111 |
| Stuve-Wiedemann Syndrome 2 |
|
Eczema, Congestive heart failure, Pulmonary arterial hypertension, Stillbirth, Neonatal death, In... |
OMIM:619751 |
| Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera... |
ORPHA:330058 |
| Glycogen Storage Disease Vi |
|
Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic ... |
OMIM:232700 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Pericarditis, Abscess, Recurrent upper respiratory tract infecti... |
OMIM:615758 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Hypoch... |
ORPHA:440713 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Allergic rhinitis,... |
OMIM:615816 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology |
ORPHA:2582 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Epista... |
OMIM:614034 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Recurrent viral infections, Splenomegaly, ... |
ORPHA:169090 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Acute colitis, Abnormal per... |
ORPHA:67 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Glomerulopathy, Ureteral stenosis,... |
ORPHA:900 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic s... |
ORPHA:435651 |
| Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke... |
ORPHA:157991 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Hyperhidrosis, Abnormality of the urinary system, Anemia, Gastrointestinal inflammation |
ORPHA:79406 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Enlarged lacrimal glands, Lymphadeno... |
ORPHA:79078 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Failure to thrive in inf... |
OMIM:610377 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarthritis, Abnorm... |
ORPHA:77259 |
| Junctional Epidermolysis Bullosa Inversa |
|
Abnormality of the urinary system, Anemia, Gastrointestinal inflammation |
ORPHA:79405 |
| Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... |
OMIM:155310 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Vomiting, Hepatomegaly, Sc... |
ORPHA:26791 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
| Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis |
OMIM:238600 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... |
OMIM:617241 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorption, Primary hype... |
OMIM:145981 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Failure to thrive, Eczema, Facial myokymia |
OMIM:620007 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Nephrolithiasis,... |
OMIM:232200 |
| Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Vomiting, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotran... |
OMIM:614921 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea... |
OMIM:614376 |
| Scorpion Envenomation |
|
Bundle branch block, Hyperhidrosis, Vomiting, Prominent U wave, Ketonuria, Elevated circulating a... |
ORPHA:466677 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Recurrent viral infections, Sepsis, Elevated gamma-glutamyltransferase level,... |
OMIM:619573 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Pruritus, Splenomegaly, Lymphadenopathy, Hyperh... |
ORPHA:391 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Parathyroid adenoma, Pancrea... |
OMIM:145980 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Intracra... |
ORPHA:340 |
| Atelis Syndrome 1 |
|
Eczema, Bronchiectasis, Recurrent infections, Anemia, Leukopenia, Hypothyroidism, Thrombocytopenia |
OMIM:620184 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
| Maple Syrup Urine Disease |
|
Feeding difficulties in infancy, Increased level of hippuric acid in urine, Vomiting, Pancreatitis |
OMIM:248600 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
| Fanconi Anemia, Complementation Group G |
|
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic ste... |
ORPHA:79259 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Sepsis, Cholecystitis, Decreased circu... |
ORPHA:183675 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal renal tubule morphology, Abnorm... |
ORPHA:732 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis,... |
OMIM:619693 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell... |
OMIM:603553 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Vasculitis, Hypotension, Pancreatitis |
ORPHA:70578 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Failure t... |
OMIM:619151 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Infec... |
ORPHA:42642 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Atopic dermatitis, Lymphopenia, Thrombocyt... |
OMIM:618624 |
| Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis... |
ORPHA:39041 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia |
ORPHA:100025 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo... |
OMIM:214500 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Recurrent respiratory infections, Telangiectasia of t... |
ORPHA:100 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis, Hepatic steatosis, Hepa... |
ORPHA:264580 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Dilated cardiomyopathy, Palmoplantar hyperkeratosis... |
OMIM:613989 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
| Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Intrau... |
ORPHA:525731 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content |
OMIM:261750 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
| Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:470 |
| Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
| Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... |
OMIM:619868 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Growth delay, Decreased 3-hy... |
OMIM:231530 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity, Increased circulating cortisol level, Hypertension, Ovarian cyst, Primary hyperc... |
OMIM:610475 |
| Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Arthritis, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, An... |
OMIM:604250 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Sti... |
ORPHA:85212 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Le... |
OMIM:249100 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... |
ORPHA:101330 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phenomenon, C... |
ORPHA:536 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... |
OMIM:240300 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Protein avoidance, Decreased liver function, Acute hepatitis, Failure to thrive, Ep... |
OMIM:238970 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Flexion contracture, Recurrent skin infections |
ORPHA:79503 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
| Pancreatitis, Hereditary |
|
Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocr... |
OMIM:167800 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Bronchiectasis, Biliary cirrh... |
OMIM:219700 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Myocarditis, Co... |
ORPHA:3342 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Failure to thrive, Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Chronic constipation, Nephrotic syndrome, Glomerula... |
OMIM:619428 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Increased muscle lipid content, Cardi... |
OMIM:610717 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... |
ORPHA:1855 |
| Transaldolase Deficiency |
|
Telangiectasia, Anemia, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia |
ORPHA:101028 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
| Chilblain Lupus 1 |
|
Raynaud phenomenon, Chilblains |
OMIM:610448 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
| Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Abdominal pai... |
ORPHA:767 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Skin rash |
OMIM:124950 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Sepsis, Arthritis, Vasculitis in the... |
OMIM:620321 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Short stature, Cryptorchidism, Patent ductus arteriosus, Seps... |
OMIM:617053 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Myocardial infarction, Methioninuria, Mitral valve prolapse, Failure to thrive, H... |
OMIM:236200 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Decreased activity of NADPH oxidase, Granulomatosis, Hepatomegaly, ... |
OMIM:306400 |
| Lichen Planopilaris |
|
Pruritus, Abnormal intestine morphology, Hepatitis |
ORPHA:525 |
| Marburg Hemorrhagic Fever |
|
Uveitis, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Reticulocytosis, Maculo... |
ORPHA:99826 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hypopar... |
ORPHA:199299 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent pneumon... |
OMIM:617303 |
| Keratolytic Winter Erythema |
|
Pustule, Hyperhidrosis |
ORPHA:50943 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Leukocytosis, Ja... |
ORPHA:20 |
| Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... |
OMIM:616636 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the urinary system, Anemia, Gastrointestinal inflammation |
ORPHA:79411 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, G... |
OMIM:607115 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce... |
OMIM:608233 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... |
ORPHA:3162 |
| Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera... |
OMIM:256810 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Hepatomegaly |
ORPHA:2576 |
| Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Hepatitis, Renal ... |
ORPHA:562 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadenopathy, I... |
ORPHA:98849 |
| Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy |
OMIM:254400 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Epidermolysis Bullosa Acquisita |
|
Pruritus, Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti... |
ORPHA:398063 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
| Coffin-Siris Syndrome 8 |
|
Eczema, Cryptorchidism, Feeding difficulties, Failure to thrive, Poor suck |
OMIM:618362 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Congestive heart fai... |
OMIM:619048 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... |
ORPHA:811 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Eczema, Thrombocytopenia, C... |
ORPHA:508542 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... |
ORPHA:449427 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Short stature, Eosinophilia, Eczema, Postnatal growth retardation, ... |
ORPHA:353298 |
| Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Vas... |
ORPHA:575 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... |
ORPHA:331235 |
| Leptospirosis |
|
First degree atrioventricular block, Anorexia, Uveitis, Hepatomegaly, Abdominal pain, Cellular ur... |
ORPHA:509 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Hepatocellular necrosis, Periporta... |
OMIM:201475 |
| Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Pruritus, Vasculitis, Wei... |
ORPHA:324964 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| African Trypanosomiasis |
|
Urinary incontinence, Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Hepat... |
ORPHA:3385 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Vasculitis in the skin |
ORPHA:90159 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Hyperhidrosis, Lymphadenopathy |
ORPHA:86893 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Proportionate short ... |
ORPHA:71212 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Chro... |
OMIM:615592 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Chilblains, Neonatal alloim... |
ORPHA:51 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... |
OMIM:267700 |
| Immunodeficiency 20 |
|
Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent viral upper res... |
OMIM:615707 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul... |
OMIM:619752 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthritis, Wrist flexion contracture, Constrictive pericarditis, Congenital finger flexion contra... |
OMIM:208250 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia, Intrauterine growth retardation |
ORPHA:295 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular ... |
ORPHA:143 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Short stature, Eczema, Eosinophilia, Postnatal growth... |
OMIM:616651 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Hypertension, Macrosc... |
ORPHA:251004 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Pruritus, Celiac disease, Jaundice, Abdominal diste... |
ORPHA:186 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233710 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Growth delay, Cardiomyopathy, Bone m... |
ORPHA:445038 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Atypical Hemolytic Uremic Syndrome |
|
Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Failure to thrive, Hepatic steatosis, Intrauterine growth retardation |
ORPHA:26792 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, R... |
OMIM:618282 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Abnormal pulmonary interstiti... |
OMIM:230800 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphadenop... |
ORPHA:520 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas... |
ORPHA:562639 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Proteinuria, Abnormal cardiovasc... |
ORPHA:79086 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Failure to thrive in infancy, Microvesi... |
OMIM:619418 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean platelet vol... |
OMIM:617718 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Recurrent urinary tract infections, Skin rash, Pruritus, Feeding... |
ORPHA:1334 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Enuresis, Hepat... |
ORPHA:247585 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malro... |
ORPHA:436252 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ... |
ORPHA:238459 |
| Blue Rubber Bleb Nevus |
|
Skin rash, Microcytic anemia, Gastrointestinal infarctions, Intestinal bleeding, Volvulus |
ORPHA:1059 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Congestive heart failure, Recurrent pneumonia, Recurrent infections, Growth delay, Le... |
OMIM:616271 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Hyperhidrosis, Bloody diarr... |
ORPHA:90068 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233690 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... |
ORPHA:2035 |
| Letterer-Siwe Disease |
|
Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto... |
OMIM:246400 |
| Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg... |
ORPHA:550 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:616435 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ... |
ORPHA:98908 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Short stature, Elevated circulating aspartate ami... |
OMIM:257200 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hepatitis, Adrenocorticotropin deficient adrenal insufficie... |
ORPHA:199296 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Renal i... |
OMIM:203800 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Recurrent opportunistic infections, Growth delay, Bone marrow hypocellularity, Cirr... |
OMIM:613987 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Abdominal pain, Malab... |
ORPHA:2070 |
| Ulerythema Ophryogenesis |
|
Acne, Contact dermatitis |
ORPHA:3406 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... |
ORPHA:2688 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration ... |
OMIM:243700 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... |
ORPHA:486 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Nephritis, Thrombocytopenia |
ORPHA:3327 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Distal amyotrophy, Dysphagia, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
| Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Obesity, Hypertension, Hepatic steatosis |
OMIM:615703 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis... |
OMIM:618523 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Abdominal pain, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
| Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Congen... |
OMIM:610199 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis |
OMIM:120100 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Lymphadenitis, Inflammation of the large intestine, Hepatic fibrosis, Ve... |
OMIM:615895 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis,... |
ORPHA:449563 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... |
OMIM:241600 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Intrauterine growth retardation, Decreased circulatin... |
OMIM:620005 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Eczema, Short stature, ... |
OMIM:617052 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Cryptorchidism, Pulmonary fibrosis, Emphysema, Lymphopenia... |
OMIM:620365 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
| Leigh Syndrome |
|
Failure to thrive, Hepatocellular necrosis |
OMIM:256000 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Hepa... |
ORPHA:319251 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... |
OMIM:617827 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Secretory diarrhea, Hypertension, Vomiting, Failure to thrive |
OMIM:616069 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Hepatosplenomegaly, Anemia, Elevated circulating alkaline phosphatase concentratio... |
ORPHA:210110 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Reduced 3-phosphoglycerate dehydrogenase activity, Growth delay, Decreased ... |
OMIM:601815 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Skin rash, Camptodactyly of finger, Hypohidrosis |
ORPHA:1658 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Anemia, Decreased liver func... |
OMIM:608104 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anem... |
ORPHA:91547 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Increased circulating lacta... |
ORPHA:232 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin rash, Small for gestatio... |
OMIM:277380 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Recurrent skin infections, Thrombocytopenia |
OMIM:614171 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular ... |
ORPHA:99880 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph... |
OMIM:259700 |
| Acute Lung Injury |
|
Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage |
ORPHA:178320 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
| Linear Iga Dermatosis |
|
Pruritus, Renal neoplasm, Inflammation of the large intestine, Epistaxis |
ORPHA:46488 |
| Spastic Paraplegia 84, Autosomal Recessive |
|
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Urinary urgency, Crohn's di... |
OMIM:619621 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Elastoderma |
|
Erysipelas, Eczema |
ORPHA:228240 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Elevated hemoglobin A1c, Elevated circulating luteinizi... |
OMIM:617253 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Skin rash, Abnormal heart valve ... |
ORPHA:36412 |
| Cortisone Reductase Deficiency 1 |
|
Acne, Obesity |
OMIM:604931 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive |
OMIM:227090 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity |
ORPHA:98827 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Short stature, Hepatomegaly |
ORPHA:2204 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis... |
ORPHA:90062 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Splenomegaly, Co... |
ORPHA:280365 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Leukopenia,... |
ORPHA:99828 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Increased mean platelet volume, ... |
ORPHA:182050 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hepatoblastoma, Chronic pancr... |
OMIM:232240 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Abdominal pain, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Recurrent respiratory infections, Hepatitis, Abnormal pleura morphology |
ORPHA:584 |
| Sepsis In Premature Infants |
|
Neonatal sepsis, Hepatomegaly, Tachycardia, Small for gestational age, Splenomegaly, Leukocytosis... |
ORPHA:90051 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... |
OMIM:260400 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
| Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy... |
OMIM:615688 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Angina pectoris, Hypothyroidism, Tendon xanthomatosis, Renal st... |
ORPHA:412 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Small for gestational age, Abdominal pain, Pruritus, Ab... |
ORPHA:69665 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Recurrent infections, Growth dela... |
ORPHA:541423 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Recurrent gastr... |
ORPHA:275 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, ... |
ORPHA:99745 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Intrauterine growth retardat... |
OMIM:615966 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... |
ORPHA:86841 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Vomiting, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, H... |
OMIM:619525 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Abnormality of... |
ORPHA:33276 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Small for gestational age, Elevated hemoglobin A1c, Postnatal gr... |
OMIM:210900 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis... |
ORPHA:1451 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infections, Impa... |
OMIM:617443 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... |
OMIM:616829 |
| Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroi... |
OMIM:277900 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... |
OMIM:615607 |
| B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu... |
ORPHA:79332 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis,... |
ORPHA:2902 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, Iron deficiency ane... |
OMIM:301000 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr... |
ORPHA:2848 |
| Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Hepatomegaly, Thrombocytopenia, Anemia |
ORPHA:2123 |
| Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Arthritis,... |
OMIM:301074 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Exercise-induced rha... |
ORPHA:284426 |
| Acquired Ichthyosis |
|
Pruritus, Renal insufficiency, Recurrent skin infections |
ORPHA:454 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Poikilocytosis, Elev... |
OMIM:615234 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent skin infections, Feeding difficulties, Atrial septal defect, Fai... |
OMIM:617744 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Very long chain fatty acid accumulation, Hepatomegaly, Diffuse hepatic steatosis, Elevated hepati... |
OMIM:264470 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Hypohidrosis, Lymphadenopathy, Recurrent bacterial infections, Recur... |
OMIM:612783 |
| Yellow Fever |
|
Anuria, Vomiting, Internal hemorrhage, Nausea, Neutrophilia, Elevated circulating aspartate amino... |
ORPHA:99829 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Br... |
OMIM:620233 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Telangiectasia, Hyperkeratosis, Interstitial pneumonitis, G... |
ORPHA:454831 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid derma... |
OMIM:147060 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Small for gestational age, Short stature... |
ORPHA:2959 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Pruritus, Erythroderma |
ORPHA:280785 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Abnormality of the urina... |
ORPHA:79409 |
| Acquired Purpura Fulminans |
|
Shock, Skin rash, Sepsis, Intracranial hemorrhage, Hepatic failure, Internal hemorrhage, Thromboc... |
ORPHA:49566 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive primary hyperald... |
ORPHA:171876 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po... |
OMIM:602347 |
| Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia |
OMIM:612952 |
| Glutathionuria |
|
Urinary incontinence, Eczema, Reduced gamma-glutamyltransferase level, Constipation, Glutathionuria |
OMIM:231950 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... |
OMIM:613327 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
| Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis |
ORPHA:79148 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Neutropenia in ... |
OMIM:615952 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Obesity, Atrial septal defe... |
OMIM:619471 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... |
OMIM:601847 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchie... |
OMIM:612387 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Short stature, Asplenia, Anemia, Increas... |
OMIM:185070 |
| Fanconi Anemia, Complementation Group V |
|
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In... |
OMIM:613839 |
| Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Eczema, Anorexia, Weight loss, Keratoconjunctivitis, Organic aciduria, Throm... |
ORPHA:79242 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic periportal necrosis, Hepati... |
OMIM:231680 |
| Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Raynaud phenomenon, Abnormal pulmonary interstitial morphology, Le... |
ORPHA:206572 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreas... |
OMIM:603585 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Splenomegaly, Vasculitis,... |
OMIM:225750 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Decreased methionine synthase activity, Cryptorchidism, Patent ductus arteriosus, Growth delay, N... |
OMIM:614857 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
| Necrotizing Enterocolitis |
|
Shock, Neonatal sepsis, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hypote... |
ORPHA:391673 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Incr... |
OMIM:210250 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Small for gestational age, Transient ischemic attack, Abnormal immunoglobulin level... |
OMIM:242900 |
| Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Myositis, Pericarditis, Recurrent urinary tract infections, ... |
ORPHA:3310 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Short stature, Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decre... |
OMIM:619750 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, ... |
OMIM:603467 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
| Glycogen Storage Disease Ixa1 |
|
Growth delay, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase |
OMIM:306000 |
| Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... |
OMIM:618234 |
| Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Vasculitis, Skin rash |
ORPHA:889 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Acanthocytosis, Growth delay, Increased hepatocellular lipid dropl... |
ORPHA:71 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Abnormal lactate dehydrogenase level, Microangiopathic he... |
ORPHA:54057 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Pruritus, Abnormality of the urinary system, Anemia, Gastrointestinal inflammation |
ORPHA:79410 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Pityriasis Rubra Pilaris |
|
Pustule, Pruritus, Eczema, Erythroderma |
ORPHA:2897 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... |
OMIM:611126 |
| Scedosporiosis |
|
Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ... |
ORPHA:449280 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Increased circulating IgM level,... |
ORPHA:448237 |
| Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Small for gestational ag... |
OMIM:606593 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Intrauterine growth retardation |
OMIM:608540 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Stillbirth |
OMIM:152800 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
| Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab... |
ORPHA:90340 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pruritus, Splenomegaly, Chronic diarrhea, Feeding diffic... |
OMIM:618268 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Foot joint contracture, Glome... |
ORPHA:79408 |
| Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Renal insufficiency, Pustule, Overweight, Leukocytosis, Congestive... |
ORPHA:247353 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal ... |
ORPHA:29207 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Short stature, Splenomegaly, Recurrent bronchopulmonary infect... |
OMIM:604173 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Decreased liver ... |
ORPHA:70472 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Micronodular cirrhosis, Obesity, Abno... |
ORPHA:98907 |
| Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Acne, Abnormal aortic valve morphology |
ORPHA:577 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Mild postnatal growth... |
OMIM:224120 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive he... |
ORPHA:49827 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Persistent patent ductus venosus, Congenital portosystemic venous shunt, Decre... |
OMIM:601466 |
| Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Atopic dermatitis, Pulmonic stenosis, Camptodactyly,... |
OMIM:614262 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De... |
OMIM:251290 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Recurrent infec... |
ORPHA:88 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... |
ORPHA:379 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Short stature, Splenomegaly, Osteoarthritis, Hepatitis... |
ORPHA:355 |
| Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Abnormal gastric mucosa morphology... |
ORPHA:779 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,... |
OMIM:617388 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Short stature, Recurrent ear infections, Primary hypothyroidism, F... |
ORPHA:300536 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Hepatomegaly, Hypohidrosis, Joint contracture, Erysipelas |
OMIM:615704 |
| Syndromic Diarrhea |
|
Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastoma, Hy... |
ORPHA:84064 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Abnormality of neutrophil physi... |
ORPHA:542592 |
| Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumo... |
OMIM:230900 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Weigh... |
ORPHA:90362 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Cachexia, ... |
ORPHA:275761 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Abdominal pain, Leukocytosis, Chronic diar... |
OMIM:617099 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Growth dela... |
ORPHA:369 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ... |
ORPHA:44890 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Eczema, Feeding difficulties |
OMIM:620393 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Minimal change glomerulonephritis, Abdominal pain, Chronic kidney disease, St... |
ORPHA:567546 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Leukocy... |
OMIM:259720 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular tachycardia, Atrioventricular block, Vomiting, Atrial septal defect, Patent foramen o... |
ORPHA:26793 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Severe short stature, B lymphocytopenia |
OMIM:619851 |
| Netherton Syndrome |
|
Villous atrophy, Recurrent skin infections, Allergic rhinitis, Eczema, Hypereosinophilia, Chronic... |
OMIM:256500 |
| Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Anorexia, Abdominal pain, Med... |
ORPHA:397 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
| Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... |
ORPHA:160 |
| Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Increased mean corpuscular hemo... |
ORPHA:90041 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Colitis, Bone mar... |
OMIM:615190 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr... |
ORPHA:79322 |
| Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Hypertension, Polycystic ovaries |
ORPHA:280356 |
| Familial Benign Copper Deficiency |
|
Acne, Anemia |
ORPHA:1551 |
| Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Lymphadenopathy, Oligosacchariduri... |
ORPHA:2483 |
| Coproporphyria, Hereditary |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:121300 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Hepatic failure, Anemia |
ORPHA:75233 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Skin rash, Diarrhea, Hyperhidrosis, Arrhythmia |
ORPHA:29822 |
| Copper Deficiency, Familial Benign |
|
Failure to thrive, Anemia, Seborrheic dermatitis |
OMIM:121270 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Short stature, Recurrent infections, Neutrope... |
OMIM:617941 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnorma... |
ORPHA:464329 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Eczema, Thyroiditis |
OMIM:618985 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Macroorchidism, Long penis, Acne |
ORPHA:3000 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... |
OMIM:231200 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T... |
OMIM:614520 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Pruritis on hand, Pruriti... |
ORPHA:64745 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hyperkeratosis, Pulmonary hypoplasia, Dec... |
OMIM:608013 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Short stature, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Short stature, Anemia, Bone marrow hypocellularity, Intrauterine g... |
ORPHA:3322 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Bronchiectasis, Crohn's disease |
OMIM:619632 |
| Van Den Bosch Syndrome |
|
Scapular winging, Recurrent skin infections |
ORPHA:3417 |
| Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Hypomagnesiuria, Peptic ulcer, Parathormone-independent increased renal tubu... |
ORPHA:405 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Eczema |
OMIM:619157 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Decreased liver function |
OMIM:614870 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... |
OMIM:620133 |
| Congenital Ichthyosiform Erythroderma |
|
Keratitis, Pruritus, Hypohidrosis, Erythroderma, Failure to thrive |
ORPHA:79394 |
| Central Precocious Puberty In Male |
|
Pituitary microadenoma, Acne, Abnormality of the testis size |
ORPHA:649929 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hepatic steatosis |
ORPHA:436182 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Abdominal pain, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarr... |
OMIM:260920 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Stomach cancer, Goiter, Pituit... |
ORPHA:733 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Proteinuria, Nodular regene... |
ORPHA:247691 |
| Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Growth delay, Pulmonary arterial hypertension, Hypertrophic... |
OMIM:212350 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Short stature, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Ca... |
OMIM:249270 |
| Erythema Elevatum Diutinum |
|
Skin rash, Vasculitis in the skin |
ORPHA:90000 |
| Dermatitis Herpetiformis |
|
Pruritus, Malabsorption, Eczema, Microcytic anemia |
ORPHA:1656 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa, Anemia |
OMIM:608068 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Protein avoidance, Oroticaciduria... |
ORPHA:415 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... |
ORPHA:71272 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Proteinuria, Pericard... |
OMIM:212065 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
| Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Short stature, Cryptorchi... |
OMIM:301056 |
| Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Growth delay, Elevated hepatic iron concentration, Increase... |
OMIM:614946 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Decreased circulating IgG level, Failure to thrive, Sinusitis, Short... |
OMIM:208900 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent ... |
OMIM:615468 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ... |
ORPHA:797 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Eczema |
ORPHA:2101 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Weight loss, Anemia, Pulmonary venous hypertension, Pulmonary fibrosis, Irregular s... |
ORPHA:90060 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrho... |
ORPHA:974 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea, Vasculitis, Skin rash |
OMIM:601979 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund... |
OMIM:211600 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Fai... |
OMIM:251110 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne |
OMIM:612847 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... |
ORPHA:79404 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Or... |
ORPHA:556 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Palmoplantar hyperkeratosis, Hepatic fibrosis, Bone marrow hypocel... |
OMIM:224230 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Normochromic anemia, Bradycardia, Cholel... |
OMIM:618775 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... |
OMIM:269700 |
| Stt3B-Cdg |
|
Cryptorchidism, Failure to thrive, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:370924 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Sepsis, Abnormal left ventricular function, Leukopenia, L... |
OMIM:619991 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Failure to thrive, Thrombocytopenia, Intrauterine growth retardation |
OMIM:615597 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Recurrent inf... |
OMIM:617425 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Growth delay, Leukopenia, Bone marr... |
OMIM:613990 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Renal insufficiency, Proteinuria, Glomerulonephritis, Absence of pectoralis minor... |
OMIM:161200 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Pruritus, Ulcerative colitis, Cutan... |
ORPHA:555905 |
| Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... |
ORPHA:97280 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Telangiectasia of the s... |
ORPHA:1775 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Generalized muscul... |
OMIM:608594 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hepatic steatosis |
OMIM:615918 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Abnormal lactate dehydrogenase lev... |
ORPHA:67044 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Obesity |
OMIM:620195 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Recurrent infections, Lymphadenopathy |
OMIM:614893 |
| Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hepatic steatosis, Obesity |
OMIM:615996 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Abnormality of the kidney, Overweight, Flexion contracture, Abnormal h... |
ORPHA:391372 |
| Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate |
ORPHA:90283 |
| Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Skin rash, Weight loss |
ORPHA:317 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Skin rash, Poor appe... |
ORPHA:542323 |
| Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Increased circulating l... |
ORPHA:247598 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... |
OMIM:235555 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity |
OMIM:609054 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Eczema, Microcytic anemia, Dysphagia, Failure to thrive |
OMIM:612379 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Eczema, Large for gestational age, Cryptorchidis... |
OMIM:615355 |
| Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, I... |
OMIM:215600 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Postnat... |
OMIM:617093 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Phenylketonuria |
|
Increased level of hippuric acid in urine, Reduced phenylalanine hydroxylase level, Elevated urin... |
OMIM:261600 |
| Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i... |
OMIM:253260 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia |
OMIM:615750 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Abnormal lactate dehydrogenase level, Decr... |
ORPHA:42 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
| Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P... |
ORPHA:31204 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Pulmonary fibros... |
OMIM:619767 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... |
ORPHA:77261 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular he... |
ORPHA:66634 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Poor appetite, Erythroderma |
ORPHA:312 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
| Alg8-Cdg |
|
Elevated hepatic transaminase, Small for gestational age, Anemia, Intrauterine growth retardation... |
ORPHA:79325 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Short stature, Thrombocytopenia |
OMIM:616577 |
| Acral Peeling Skin Syndrome |
|
Eczema |
ORPHA:263534 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abdo... |
ORPHA:793 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Abnormal circulating enzyme conc... |
ORPHA:79324 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Recurrent urinary tract infections, Small for gestat... |
OMIM:613658 |
| Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Eczema, Increased urinary sulfite level, Sulfite oxidase deficiency, Decreased ... |
OMIM:272300 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or... |
ORPHA:570422 |
| Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Superficial dermal perivascular inflam... |
ORPHA:83617 |
| Cutaneous Collagenous Vasculopathy |
|
Pruritus, Skin rash, Diffuse telangiectasia |
ORPHA:280779 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Sple... |
OMIM:612852 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Congestive heart failure,... |
ORPHA:505248 |
| Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... |
ORPHA:3111 |
| Malt Lymphoma |
|
Nausea and vomiting, Abdominal pain, Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopathy,... |
ORPHA:52417 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Brady... |
OMIM:617397 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, Methylma... |
ORPHA:79284 |
| Sneddon Syndrome |
|
Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischemic stroke, Lymphopenia |
OMIM:182410 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Anemia, Leukopenia, Pulmonary arterial hypertension, Failure to thrive, Thrombocyto... |
OMIM:613845 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hypertension, Abnormality of the l... |
ORPHA:2169 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Blepharitis, Eczema, Hypohidrosis |
OMIM:618535 |
| Hemochromatosis, Type 2A |
|
Splenomegaly, Cirrhosis, Hepatomegaly |
OMIM:602390 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA lev... |
ORPHA:2298 |
| Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
| Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Diarrhea, Xerostomia, Obesity, Arthritis, ... |
ORPHA:36397 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Hypohidrosis |
ORPHA:1810 |
| Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Pancytopenia, Hypospadias, Eczema, Cryptorchidism, Atopic dermatitis, Feeding difficu... |
OMIM:620331 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis, Hypertrophic cardiomyopathy, F... |
ORPHA:436271 |
| Peeling Skin Syndrome 1 |
|
Pruritus, Palmoplantar hyperhidrosis, Eosinophilia, Erythroderma |
OMIM:270300 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Myop... |
OMIM:307030 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertension, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Hydrocele testis, Intrauterine growth retardation, Congenital adrenal hyperplasia, Thromb... |
ORPHA:96181 |
| Bazex-Dupre-Christol Syndrome |
|
Atopic dermatitis, Eczema, Acne inversa, Hypohidrosis |
OMIM:301845 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Epidermodysplasia Verruciformis |
|
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Skin rash |
ORPHA:90036 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Cryptorchidism, Leukocytosis, Lymphadenop... |
ORPHA:99812 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infe... |
OMIM:251260 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Acne, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aor... |
ORPHA:3191 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Chronic rhinitis, Chronic otitis media, Chronic... |
OMIM:244400 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoarthritis, Synovitis, Uveitis, Enth... |
ORPHA:85408 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Raynaud ... |
OMIM:607944 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Short stature, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal... |
OMIM:301072 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ear infections, Recurrent ... |
ORPHA:221139 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... |
ORPHA:1467 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Fai... |
OMIM:251100 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Hyperhidrosis |
ORPHA:1063 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
| Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG... |
ORPHA:284227 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Skeletal muscle hypertrophy, Hypertension, ... |
OMIM:151660 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Congenital Pulmonary Lymphangiectasia |
|
Growth delay, Splenomegaly, Ascites, Hepatomegaly |
ORPHA:2414 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdomin... |
OMIM:212750 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hyperhidrosis, Leukopeni... |
ORPHA:2330 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Vomiting, Nausea, Myelitis |
ORPHA:83597 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In... |
ORPHA:2314 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Bronchiectasis,... |
ORPHA:79128 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Increased circulating IgG level, Conjunctivitis, Hepatomegaly, Short stature, ... |
OMIM:256040 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... |
OMIM:256550 |
| Pseudopelade Of Brocq |
|
Recurrent skin infections, Cheilitis |
ORPHA:129 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Uveitis |
OMIM:617044 |
| Cln3 Disease |
|
Acne, Vacuolated lymphocytes, T-wave inversion, Bradycardia, Dysphagia, Left ventricular hypertro... |
ORPHA:228346 |
| Ichthyosis With Confetti |
|
Pruritus, Decreased body weight, Hypoplastic nipples, Erythroderma |
OMIM:609165 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice, Schistocytosis, Micr... |
OMIM:274150 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splen... |
OMIM:613471 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Eczema |
ORPHA:1525 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Right ventricular failure, Decreased circulating antibody level... |
ORPHA:90363 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Recurrent v... |
OMIM:242840 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Acne, Increased body weight, Hypertension, Increased circulating cortisol le... |
OMIM:615830 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Short stature, Increased circulating IgA level, Bilateral cryptorchidism, Recurrent ... |
OMIM:616395 |
| Mogs-Cdg |
|
Hepatomegaly, Pulmonary edema, Hepatosplenomegaly, Hydrocele testis, Decreased circulating antibo... |
ORPHA:79330 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Congestive heart failure, Cardiomyopathy, Elevated circulating alkaline phosphatas... |
ORPHA:52430 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm... |
ORPHA:95455 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation |
OMIM:618541 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome... |
ORPHA:131 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hepatic steatosis |
OMIM:613877 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Cryptorchidism, Tetralogy of Fallot, Horseshoe kidney, Abnormal duo... |
ORPHA:2886 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Pulmon... |
OMIM:614300 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hyperhidrosis, Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:614441 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Chronic kidney disease... |
ORPHA:94059 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Primary testicular failure, Congestive heart failure, ... |
ORPHA:85450 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Eczema, Cryptorchidism, Renal hypoplasia, Obesity, Pseudohypoparathyroidism, Feeding difficulties... |
ORPHA:464288 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Hypothyroidism, Growth delay, Cardiomyopathy, Testicu... |
OMIM:222300 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Short stature, Cryptorchidism, Reticulocytopenia, Anemia... |
OMIM:227645 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Seborrheic dermatiti... |
ORPHA:488618 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... |
ORPHA:2072 |
| Familial Tumoral Calcinosis |
|
Calcification of muscles, Hepatomegaly, Skin rash, Splenomegaly, Hyperhidrosis, Nephrocalcinosis |
ORPHA:53715 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Polycystic ovaries, Cirrhosis, Hypertrophic cardiomyopath... |
ORPHA:528 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Growth delay, Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia |
ORPHA:3240 |
| Icf Syndrome |
|
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Decreased circulatin... |
ORPHA:2268 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... |
ORPHA:760 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce... |
OMIM:605479 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... |
OMIM:615508 |
| Lead Poisoning |
|
Skin rash, Small for gestational age, Anorexia, Abdominal pain, Abdominal distention, Chronic kid... |
ORPHA:330015 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram... |
OMIM:220110 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Acanthocytosis, Congestive heart fa... |
ORPHA:14 |
| Igg4-Related Aortitis |
|
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... |
ORPHA:449400 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Gracile Syndrome |
|
Cholestasis, Cirrhosis, Elevated hepatic iron concentration, Intrauterine growth retardation, Hep... |
ORPHA:53693 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Cryptorchidism, Hypothyroidism, Obesity, Mitral regurgitation, Intrauterine... |
ORPHA:254346 |
| Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis |
OMIM:253240 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Short stature,... |
ORPHA:2785 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis, Short stature |
ORPHA:977 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Fa... |
OMIM:610768 |
| Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Obesity, Hypertension, Hypothyroidism |
ORPHA:77296 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Mac... |
OMIM:600649 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Anoperinea... |
OMIM:613960 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula... |
OMIM:193235 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
| Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
| Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis |
OMIM:615527 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Elevated... |
OMIM:615381 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Large for gestational age, Cryptorchidism, Thrombocytopenia, Decreased circulating Ig... |
OMIM:616638 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Portal vein hypoplasia |
OMIM:619433 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Thrombocytopenia |
OMIM:112200 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Folliculitis, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventri... |
OMIM:212138 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Conjunctivitis, Cholelithi... |
OMIM:263700 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Short stature, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:227646 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Hypertensive crisis, Increased circulating lactate de... |
ORPHA:94093 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Eczema, Ventricular septal defect, Hypospadias, Feeding difficulties in in... |
ORPHA:500159 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete... |
ORPHA:2795 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Elevated urinary prostaglandin E2... |
OMIM:167100 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... |
ORPHA:2796 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Recur... |
OMIM:616726 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Thrombocytopenia |
ORPHA:3002 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Short stature, Postnatal growth retardation, Anemia, Hypoplastic ni... |
ORPHA:261323 |
| Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... |
ORPHA:46059 |
| Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Emphysema, Abnormal sa... |
OMIM:181000 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... |
ORPHA:913 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Esophageal stenosis, Recurrent skin infections, Esoph... |
ORPHA:89842 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Iritis, Decreased l... |
OMIM:109650 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Erythrocyte cylindruria, Weigh... |
OMIM:233450 |
| Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic sinusitis |
OMIM:615294 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... |
OMIM:187900 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Eczema, Chronic constipation, Gastroesophageal reflux, Hypoplastic left he... |
OMIM:619721 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Hypoplasia of lymphatic vessels, Recurrent skin infections, Abnormal lymphatic vessel morphology |
ORPHA:568051 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Recon Progeroid Syndrome |
|
Short stature, Recurrent infections, Anemia, Growth delay, Keratoconjunctivitis sicca, Thrombocyt... |
OMIM:620370 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Folliculitis, Conjunctivitis, Blepharitis |
OMIM:308800 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Short stature, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnormal p... |
ORPHA:77293 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Short stature, Cryptorchidism, Reticulocytopenia, Anemia... |
OMIM:600901 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume |
OMIM:300048 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy, Reduced carnitine O-palmitoyltransfe... |
ORPHA:228305 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Pulmonic stenosis, Skin rash, Slender build |
OMIM:617600 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Cryptorchidism, Hyperhidrosis, Anemia, Leuko... |
OMIM:305000 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Hepatic steatosis, Cirrhosis, Polycystic ovaries |
OMIM:604367 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, Failure to thrive |
ORPHA:85410 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Cardiomyopathy, Stillbirth, Decreased liver function, Neonatal death, Hepatic steat... |
OMIM:614922 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Failure to thrive in infancy, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchi... |
OMIM:611209 |
| Mpdu1-Cdg |
|
Abnormal circulating enzyme concentration or activity, Eczema, Decreased response to growth hormo... |
ORPHA:79323 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis |
ORPHA:210548 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy, Thrombocytopenia, Intrauterine growth retardation |
OMIM:617710 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Retinal telangiectasia, Postnatal growth retardation, Anemia, Intestinal bleeding,... |
OMIM:612199 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Palmoplantar hyperkeratosis, Decreased circulating antibody level, ... |
OMIM:158350 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hypoplastic sweat glands, Eczema, Acne inversa, Hypohidrosis |
OMIM:617337 |
| H Syndrome |
|
Psoriasiform dermatitis, Short stature, Microcytic anemia, Recurrent pharyngitis, Delayed puberty... |
ORPHA:168569 |
| Lyme Disease |
|
Nausea and vomiting, Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis |
ORPHA:91546 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Skin rash, Protei... |
ORPHA:761 |
| Farber Lipogranulomatosis |
|
Splenomegaly, Lipogranulomatosis, Hepatomegaly |
OMIM:228000 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Xerostomia, Hypohidrosis, Nephrotic syndrome, Keratoconjunctivitis sicca, Brea... |
ORPHA:238468 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Short stature, Cryptorchidism, Reticulocytopenia, Anemia... |
OMIM:227650 |
| Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym... |
ORPHA:1333 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypospadias, Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormality of the spleen, Gastroesophageal reflux, Atrial septa... |
ORPHA:2538 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... |
ORPHA:746 |
| Holocarboxylase Synthetase Deficiency |
|
Skin rash, Feeding difficulties in infancy, Organic aciduria, Vomiting, Elevated urinary 3-methyl... |
OMIM:253270 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Anorexia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephrit... |
ORPHA:91500 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hepatomegaly, A... |
OMIM:276700 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal... |
ORPHA:79277 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis, Erythroderma |
OMIM:604777 |
| Acrodermatitis Enteropathica |
|
Anorexia, Poor appetite, Pustule, Malabsorption, Chronic diarrhea, Cheilitis, Weight loss, Conjun... |
ORPHA:37 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula... |
OMIM:235200 |
| Fixed Drug Eruption |
|
Stomatitis, Crusting erythematous dermatitis |
ORPHA:293812 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Pituitary adenoma, Primary hyperparathyroidism, Increased body weight, Hypertension, Abdomi... |
ORPHA:189427 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Hypothyroidism, H... |
OMIM:616263 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
| Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
| Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Malabsorption, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Mild postnatal growth retardation, Splenomegaly, Pulmonary lymp... |
ORPHA:2136 |
| Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Cryptorchidis... |
OMIM:619005 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Short stature, Pure red cell aplasia, Erythroi... |
ORPHA:124 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, D... |
OMIM:131100 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A... |
ORPHA:935 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... |
ORPHA:79282 |
| Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Short stature, Decreased heart rate variability... |
OMIM:619004 |
| Lipoid Proteinosis |
|
Pustule, Acne, Dysphagia |
ORPHA:530 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Hypospadias, Eczema, Decreased response to growth hormone stimulation test, Bilateral cryptorchid... |
OMIM:618336 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:602782 |
| Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... |
ORPHA:31150 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pustule, Pruritus, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Thrombocytopenia, Leukocytosis, Leukopenia, Increased circulating ... |
ORPHA:297 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Bloom Syndrome |
|
Poor appetite, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased proporti... |
ORPHA:125 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
| 16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, ... |
ORPHA:261250 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
| Erdheim-Chester Disease |
|
Nausea and vomiting, Renal insufficiency, Osteomyelitis, Skin rash, Abnormal pericardium morpholo... |
ORPHA:35687 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
| Antiphospholipid Syndrome, Familial |
|
Keratitis, Scleritis, Iritis, Autoimmune thrombocytopenia |
OMIM:107320 |
| Braddock-Carey Syndrome 1 |
|
Growth delay, Thrombocytopenia |
OMIM:619980 |
| Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, Jaundice, Hepatitis, Cholestasi... |
ORPHA:198 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Thrombocytopenia |
OMIM:277480 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Small for gestational age, Polyuria, Diarrhea, Feeding difficulties, Hyp... |
OMIM:606721 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Patent ductus arteriosus, Abnormal lung lobation, Growth delay, Intrauterine gro... |
OMIM:300514 |
| Hartnup Disease |
|
Abnormal urinary color, Skin rash, Malabsorption, Infectious encephalitis, Neutral hyperaminoacid... |
ORPHA:2116 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... |
ORPHA:100078 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Crusting erythematous dermatitis, Telangiectasia |
ORPHA:158673 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Nausea and vomiting, Recurrent skin infections, Urinary bladder inflammation,... |
ORPHA:79403 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... |
OMIM:611881 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Atopic dermatitis |
OMIM:618084 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Abnormality of the kidney, Raynaud phenomenon, Flexion contra... |
ORPHA:90289 |
| Plague |
|
Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflammation o... |
ORPHA:707 |
| Noonan Syndrome 4 |
|
Short stature, Large for gestational age, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiom... |
OMIM:610733 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Renal agenesis, Acne, Obesity |
ORPHA:247768 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy, ... |
ORPHA:1332 |
| Meningococcal Meningitis |
|
Shock, Renal insufficiency, Projectile vomiting, Skin rash, Anorexia, Hypotension, Infectious enc... |
ORPHA:33475 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Tubul... |
ORPHA:33001 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Short stature |
ORPHA:391307 |
| Ivic Syndrome |
|
Leukocytosis, Severe short stature, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr... |
OMIM:250250 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Skin rash, Acne, Sudden cardiac dea... |
ORPHA:758 |
| Ogden Syndrome |
|
Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency anemia, Macrovesicular... |
OMIM:300855 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Bloody diarrh... |
ORPHA:294023 |
| Arima Syndrome |
|
Hepatomegaly, Growth delay, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:243910 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:369840 |
| Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Myeloproliferative disorder, Iritis, Blepharitis |
ORPHA:158000 |
| Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... |
ORPHA:678 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Chronic otitis media,... |
ORPHA:567 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Leukocytosis, Abdominal obesity, Hypoplasia of the ovary, Intrauterine growth reta... |
OMIM:619321 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... |
ORPHA:276152 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Gastrointestinal dysmotility, Recurrent skin infections, Hypohidrosis |
OMIM:616488 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis, Hypertension |
OMIM:615238 |
| Classic Phenylketonuria |
|
Nausea and vomiting, Eczema |
ORPHA:79254 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Short stature, Erythroid hypoplasia, Obesity, Anemia, Thrombocytopenia |
OMIM:620072 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Grow... |
ORPHA:1667 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Complex organ... |
ORPHA:506 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Intramuscular hematoma, Myel... |
ORPHA:331 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
| Asbestos Intoxication |
|
Right ventricular failure, Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal... |
ORPHA:2302 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Short stature, Eczema, Abnormality of neutrophils, Postnatal growth retardati... |
ORPHA:235 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age |
ORPHA:293964 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Small for gestatio... |
ORPHA:404454 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... |
OMIM:614074 |
| Estrogen Resistance |
|
Breast aplasia, Acne, Elevated alkaline phosphatase of bone origin, Polycystic ovaries |
OMIM:615363 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio... |
ORPHA:96182 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Short stature, Eczema, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Abno... |
OMIM:270400 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia |
OMIM:613280 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Heart block, Hepatic calcification, Renal tubular epithelial necrosis, Tubulointers... |
ORPHA:228308 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
| Monosomy 13Q34 |
|
Epistaxis, Obesity, Hematochezia, Growth delay, Pulmonic stenosis, Hepatic steatosis |
ORPHA:96168 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Infl... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Infl... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Infl... |
ORPHA:99226 |
| Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Infl... |
ORPHA:881 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... |
ORPHA:647 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
| Ring Chromosome 12 Syndrome |
|
Small for gestational age, Acne, Secundum atrial septal defect, Cryptorchidism, Glandular hypospa... |
ORPHA:1439 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Recurrent skin infections, Camptodactyly of finger, Phimosis, Esophageal stri... |
ORPHA:2908 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... |
OMIM:257220 |
| Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Lymph node hypoplasia, Absence of... |
ORPHA:90186 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Recu... |
ORPHA:508533 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo... |
OMIM:124000 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... |
OMIM:618213 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Acne |
ORPHA:261190 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short stature, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Patent ductus... |
OMIM:274000 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methionine synthase activity, Megaloblastic anemia, Neutropenia, Decreased methylmalony... |
OMIM:277400 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Foot joint contracture, Protein... |
ORPHA:90321 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l... |
ORPHA:367 |
| Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... |
ORPHA:2357 |
| Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... |
ORPHA:542643 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent pneumonia, Pneumonia, Esophagitis |
ORPHA:3348 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Postnatal growth retardation, Intrauterine growth retardation, Arterial rupture, Thrombocytopenia |
OMIM:612394 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia of the thymus, Pulmo... |
OMIM:613177 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Abnormal circulati... |
ORPHA:17 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Sepsis, Bradyca... |
ORPHA:70587 |
| Prolidase Deficiency |
|
Hepatomegaly, Recurrent cystitis, Pruritus, Splenomegaly, Crusting erythematous dermatitis |
ORPHA:742 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulatin... |
ORPHA:29073 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Tachycardia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricula... |
OMIM:618321 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Short stature, Eczema, Cryptorchidism, Growth delay, Aortic val... |
ORPHA:2308 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive h... |
OMIM:105650 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... |
ORPHA:348 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... |
ORPHA:70591 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Cryptorchidism, Dilated cardiomyopathy, Truncal obesity, Disproportionate short-li... |
OMIM:616541 |
| Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Congestive heart failu... |
OMIM:617156 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension, Nephritis, Thrombocytopenia |
OMIM:301050 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Elbow contracture, Knee flexion contracture, Feeding difficulties, Ele... |
OMIM:618162 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:435660 |
| Pachyonychia Congenita 2 |
|
Folliculitis, Palmoplantar hyperhidrosis, Angular cheilitis |
OMIM:167210 |
| Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Intrauterine growth retardation, Annular pancre... |
OMIM:147791 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abno... |
ORPHA:93111 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Pruritus, Cervical lymphadenopat... |
ORPHA:324625 |
| Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Esophagitis, Intrauterine growth reta... |
OMIM:615356 |
| Bronchopulmonary Dysplasia |
|
Small for gestational age, Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulm... |
ORPHA:70589 |
| Reni Syndrome |
|
Cryptorchidism, Lymphopenia, Hypothyroidism, Adrenal insufficiency |
OMIM:617575 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
| Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulating enzyme concentration ... |
ORPHA:95159 |
| Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Cryptorchidism, Patent ductus arteriosus, Recurrent infections, P... |
OMIM:616737 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failu... |
ORPHA:79351 |
| Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of the... |
OMIM:203300 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Growth delay, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, ... |
OMIM:226300 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmonary hypoplasia... |
OMIM:619708 |
| Milroy Disease |
|
Hydrocele testis, Erysipelas |
ORPHA:79452 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
| Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Abnormal heart rate variability, Aspiration pneumonia, Pulmonary arter... |
ORPHA:70588 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Pulmonary artery stenosis, Lymphade... |
ORPHA:667 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
| Xylt1-Cdg |
|
Hepatomegaly, Acne, Truncal obesity |
ORPHA:370930 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Recurrent infections, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Atelectasis, Patent ductus arteriosus, Periportal fibrosis, Hypoplast... |
OMIM:269860 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Abnormal circulating enzyme concentration or activity, Thrombocytopenia, Intraute... |
ORPHA:572798 |
| Estrogen Resistance Syndrome |
|
Acne, Elevated tissue non-specific alkaline phosphatase, Enlarged polycystic ovaries, Increased c... |
ORPHA:785 |
| 1P36 Deletion Syndrome |
|
Short stature, Abnormality of the spleen, Cryptorchidism, Dilated cardiomyopathy, Hypothyroidism,... |
ORPHA:1606 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Ele... |
ORPHA:2088 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Stomatocytosis |
OMIM:608885 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Short stature, Cryptorchidism, Patent ductus arteriosus, Heart murmur, Intrac... |
ORPHA:163979 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Short stature, Th... |
ORPHA:84 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Short stature, Elevated hem... |
OMIM:619127 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Eczema, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia ... |
ORPHA:96097 |
| Esophageal Atresia |
|
Barrett esophagus, Small for gestational age, Failure to thrive in infancy, Ventricular septal de... |
ORPHA:1199 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly |
ORPHA:33577 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive |
OMIM:210200 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Short stature, Cryptorchidism, Hyperhidrosis, Pulmonic stenosis, Hypertroph... |
OMIM:619745 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Increased circulating ... |
ORPHA:254361 |
| Ivic Syndrome |
|
Patent ductus arteriosus, Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic rhinitis, Chro... |
ORPHA:922 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Short stature, Anemia |
OMIM:619743 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Small for gestational age, Eczema, Poor appetite, Gastrointestinal dysmotility, Feedi... |
OMIM:617799 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Melen... |
ORPHA:853 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Postnatal growth retardation, Patent ductus arteriosus, Abnormali... |
ORPHA:487796 |
| Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Patent ductus arteriosus, Abnormality of the pulmonary veins, Intra... |
ORPHA:2306 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ... |
ORPHA:464306 |
| Atelis Syndrome 2 |
|
Patent ductus arteriosus, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, Pulmonic s... |
OMIM:620185 |
| Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Short stature, Patent ductus arteriosus after premature bir... |
OMIM:618460 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Chroni... |
ORPHA:158668 |
| Prader-Willi Syndrome |
|
Gastroparesis, Decreased response to growth hormone stimulation test, Cryptorchidism, Nasogastric... |
ORPHA:739 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Adrenal overactivity, Lymp... |
ORPHA:139411 |
| Mullerian Aplasia And Hyperandrogenism |
|
Acne, Unilateral renal agenesis |
OMIM:158330 |
| Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Skin rash, Small for gestational age, Telangiectasia of the skin, Na... |
ORPHA:2909 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Myocardial infarction, Neoplasm of the thymus, Pituitary ... |
ORPHA:99889 |
| Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Portal fibrosis |
OMIM:207800 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Pericardial effusion, Cryptorchidism,... |
ORPHA:1272 |
| Cushing Disease |
|
Adrenal hyperplasia, Acne, Myocardial infarction, Pituitary corticotropic cell adenoma, Leukocyto... |
ORPHA:96253 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, O... |
ORPHA:369950 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
| Cornelia De Lange Syndrome 1 |
|
Short stature, Pneumonia, Cryptorchidism, Hypoplastic nipples, Otitis media, Intrauterine growth ... |
OMIM:122470 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Osteomyelitis, Recurrent ear infections, Ove... |
OMIM:619475 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
| Autosomal Dominant Hypocalcemia |
|
Eczema, Abdominal pain, Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, ... |
ORPHA:428 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Obe... |
ORPHA:91 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Hyperparathyroidism, Short stature, Thrombocytopenia, Cryptorch... |
ORPHA:534 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Acne, Elevated circulating luteinizing hormone level |
ORPHA:99429 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta... |
OMIM:610978 |
| Biotinidase Deficiency |
|
Skin rash, Organic aciduria, Conjunctivitis, Limb muscle weakness, Eczematoid dermatitis, Decreas... |
ORPHA:79241 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Macr... |
ORPHA:274 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Decreased response to growth hormone stimulation test, Portal hypertension, Cry... |
OMIM:619503 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Hepatic failure, ST segment depression, Hypotension, Decreased... |
ORPHA:466650 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Recurrent skin infections, Feeding difficulties, Failure to thrive,... |
ORPHA:79396 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Acne, Renal salt wasting, Long penis, Testicular adrenal re... |
ORPHA:90795 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Microvesicular hepatic steatosis,... |
OMIM:300868 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
| Atypical Werner Syndrome |
|
Telangiectasia of the skin, Short stature, Congestive heart failure, Delayed puberty, Ovarian neo... |
ORPHA:79474 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Intrauterine growth retardation, Patent ductus arteriosus, Hepatic steatosis, Recurrent infections |
OMIM:619934 |
| Adult Syndrome |
|
Absent nipple, Eczema, Conjunctivitis, Hypoplastic nipples, Breast hypoplasia |
OMIM:103285 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, E... |
ORPHA:2907 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Cirrhosis, Fa... |
OMIM:229600 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97283 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... |
OMIM:612301 |
| Amoebic Keratitis |
|
Scleritis, Anterior uveitis |
ORPHA:67043 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... |
ORPHA:2896 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Abnormality of the kidney, Cryptorchidism, Telangiectasia, Constipation, Esophagitis, ... |
ORPHA:495818 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97282 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Hypertension, Increased circulating ... |
ORPHA:786 |
| Leprosy |
|
Skeletal muscle atrophy, Epistaxis, Abnormality of the spleen, Testicular mass, Uveitis, Hypohidr... |
ORPHA:548 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, G... |
ORPHA:365 |
| Pancreatoblastoma |
|
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Monosomy 22Q13.3 |
|
Renal dysplasia, Nausea and vomiting, Recurrent skin infections, Obesity, Hypohidrosis, Feeding d... |
ORPHA:48652 |
| Ayme-Gripp Syndrome |
|
Pericarditis, Camptodactyly |
OMIM:601088 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hepatic steatosis, Recurrent urinary tract infections, Hyperthyroidism, Recurrent skin infections... |
ORPHA:3455 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Abnormality of the ly... |
ORPHA:538 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Small for gestational age, Short stature, Cerebral hemorrhage, Rhizomelia, ... |
ORPHA:666 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Atelectasis, Unilateral cryptorchidism, Neonatal death |
OMIM:300219 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Hydroureter, Aganglionic megacolon, Eczema, Camptodactyly of finger, Abnormality of... |
ORPHA:2273 |
| Roberts Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardation, Thrombocyto... |
ORPHA:3103 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Decreased circulating cortisol level, Acne, Renal salt wasting, Long penis, Primary adrena... |
ORPHA:90794 |
| Pmm2-Cdg |
|
Multiple joint contractures, Intracranial hemorrhage, Hepatic fibrosis, Vomiting, Aspiration pneu... |
ORPHA:79318 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
| Retinoblastoma |
|
Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Hyphema, Uveitis, Leiomyosarcoma, Pin... |
ORPHA:790 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Microvesicular hepatic steatosis, Hypertension, Mitral regurgitation, ... |
OMIM:220111 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Mitra... |
OMIM:208400 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
| Charge Syndrome |
|
Hypoparathyroidism, Decreased response to growth hormone stimulation test, Postnatal growth retar... |
OMIM:214800 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Postnatal growth retardation, Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces |
ORPHA:536467 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... |
ORPHA:391665 |
| Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
| 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 |
| Chand Syndrome |
|
Atelectasis, Hypohidrosis |
ORPHA:1401 |
