Reticular Dysgenesis |
|
Sepsis, Leukopenia, Dehydration, Chronic otitis media, Failure to thrive, Weight loss, Decreased ... |
ORPHA:33355 |
Secondary Intestinal Lymphangiectasia |
|
Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... |
ORPHA:90363 |
Isolated Agammaglobulinemia |
|
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormal ... |
ORPHA:229717 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chroni... |
ORPHA:47 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Sepsis, High palate, Neutropenia, Agammaglobulinemia, Bronchiectasis, Chronic otitis m... |
ORPHA:33110 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Hepatomegaly, Renal tubular dysfunction, Neutropenia, Anemia, Pancreatitis, Hyperammonemi... |
ORPHA:289916 |
Immunodeficiency 46 |
|
Sepsis, Neutropenia, Failure to thrive, Recurrent sinopulmonary infections, Chronic oral candidia... |
OMIM:616740 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Reticular Dysgenesis |
|
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... |
OMIM:267500 |
Congenital Enterovirus Infection |
|
Myocarditis, Sepsis, Leukocytosis, Fetal ascites, Infectious encephalitis, Neutropenia, Leukopeni... |
ORPHA:292 |
Galactose Mutarotase Deficiency |
|
Sepsis, Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis |
ORPHA:570422 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutropenia, Decreas... |
ORPHA:37042 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Sepsis, Eczema, Psoriasiform dermatitis, Hepatomegaly, Bronchiectasis, Decreased circulating IgA ... |
OMIM:616100 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Secondary Short Bowel Syndrome |
|
Sepsis, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Failure to th... |
ORPHA:95427 |
Pgm3-Cdg |
|
Sepsis, Eczema, Lactose intolerance, Neutropenia, Neutropenia in presence of anti-neutropil antib... |
ORPHA:443811 |
Hepatoportal Sclerosis |
|
Esophageal varix, Recurrent infections, Splenomegaly, Hypersplenism, Abnormality of the hepatic v... |
ORPHA:64743 |
Heme Oxygenase 1 Deficiency |
|
Sepsis, Hepatomegaly, Thrombocytosis, Elevated circulating C-reactive protein concentration, Aspl... |
OMIM:614034 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Recurrent infections, Splenomegaly, Recurre... |
ORPHA:47612 |
Thymic Aplasia |
|
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... |
ORPHA:83471 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... |
OMIM:614700 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulcerative colitis |
OMIM:619398 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... |
ORPHA:169154 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial absenc... |
OMIM:618986 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... |
OMIM:308230 |
Alg1-Cdg |
|
Sepsis, Hypoalbuminemia, Nephrotic syndrome, Recurrent infections, Decreased liver function, Rena... |
ORPHA:79327 |
Omenn Syndrome |
|
Sepsis, Hepatomegaly, Leukocytosis, Erythroderma, Pneumonia, Nephrotic syndrome, Failure to thriv... |
ORPHA:39041 |
Lymphoproliferative Syndrome 2 |
|
Sepsis, Hepatomegaly, Ascites, Decreased circulating antibody level, Recurrent infections, EBV en... |
OMIM:615122 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Polyhydramnios, Abnormal liver parenchyma morphology, Abnormal biliary tr... |
ORPHA:3032 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Hematuria... |
ORPHA:231111 |
Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Hypoalbuminemia, Ascites, Weight l... |
ORPHA:2070 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Sepsis, Cholangitis, Cholangiocarcinoma, Esophageal va... |
ORPHA:480520 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Sepsis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Increased circulating mye... |
ORPHA:36234 |
Selective Igm Deficiency |
|
Sepsis, Non-infectious meningitis, Recurrent herpes, Neutropenia in presence of anti-neutropil an... |
ORPHA:331235 |
Galactosemia |
|
Sepsis, Hepatomegaly, Hypergalactosemia, Ascites, Failure to thrive, Cirrhosis, Renal insufficien... |
ORPHA:352 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Dysphagia, Recurrent aspiration pneumonia, Weight loss, Gastroesophag... |
ORPHA:930 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Hepatomegaly, Leukocytosis, Anemia, Splenomegaly, Hepatos... |
OMIM:612840 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Failure... |
OMIM:617475 |
Shigellosis |
|
Myocarditis, Sepsis, Hemolytic-uremic syndrome, Uveitis, Abnormal blood ion concentration, Conjun... |
ORPHA:810 |
Chronic Granulomatous Disease |
|
Sinusitis, Sepsis, Eczema, Hepatomegaly, Pyloric stenosis, Malabsorption, Splenomegaly, Otitis me... |
ORPHA:379 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Sepsis, Eczema, Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Pancytopeni... |
ORPHA:811 |
Mucopolysaccharidosis-Plus Syndrome |
|
Sepsis, Neutropenia, Patent ductus arteriosus, Splenomegaly, Recurrent respiratory infections, Ne... |
OMIM:617303 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Hepatomegaly, Cleft palate, Neutropenia, High palate, Leu... |
OMIM:612541 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... |
ORPHA:183675 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Nephrotic syndrome, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenome... |
OMIM:618935 |
Cyclic Neutropenia |
|
Sinusitis, Sepsis, Peritonitis, Tooth abscess, Periodontitis, Perianal abscess, Otitis media, Rec... |
ORPHA:2686 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Hyponatremia, Hyperkalemia, Hypospadias, Leukopenia, Anem... |
OMIM:617053 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentration, He... |
OMIM:614817 |
Hirschsprung Disease |
|
Sepsis, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality of the gastro... |
ORPHA:388 |
Avian Influenza |
|
Sepsis, Hypoalbuminemia, Infectious encephalitis, Pneumonia, Leukopenia, Elevated circulating cre... |
ORPHA:454836 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... |
OMIM:603471 |
Angioedema, Hereditary, 3 |
|
Facial edema, Pharyngeal edema, Intestinal edema, Angioedema |
OMIM:610618 |
Staphylococcal Necrotizing Pneumonia |
|
Sepsis, Leukocytosis, Pneumonia, Leukopenia, Pleural empyema, Neutrophilia, Acute infectious pneu... |
ORPHA:36238 |
Immunodeficiency 87 And Autoimmunity |
|
Sepsis, Cleft palate, Increased fecal calprotectin level, Hemolytic anemia, Elevated circulating ... |
OMIM:619573 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Sepsis, Recurrent skin infections, Pustule |
OMIM:618847 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Ascites, Anemia, Malabsorption, Splenomegaly, D... |
ORPHA:100025 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Fatal liver fail... |
ORPHA:263501 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia, Increased... |
OMIM:209950 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... |
OMIM:209920 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Sepsis, Normocytic anemia, Pneumonia, Normochromic anemia, Elevated circulating creatinine concen... |
ORPHA:247691 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... |
ORPHA:231154 |
Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Sepsis, Hepatomegaly, Decreased proportion of class-switched memory ... |
OMIM:233600 |
Legionnaires Disease |
|
Myocarditis, Sepsis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Hematuria... |
ORPHA:549 |
Desmoid Tumor |
|
Sepsis, Hydronephrosis, Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal h... |
ORPHA:873 |
Sepsis In Premature Infants |
|
Hepatomegaly, Leukocytosis, Neutropenia, Small for gestational age, Functional abnormality of the... |
ORPHA:90051 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence... |
ORPHA:572 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Failure to... |
OMIM:613501 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... |
ORPHA:70482 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Failure to thrive, Recurrent otitis media, Recurrent... |
OMIM:616022 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... |
OMIM:618963 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Jejunitis, Hypoproteinemia, Normocytic a... |
ORPHA:398063 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... |
OMIM:266265 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Recurrent infections, Anemia, Splenomeg... |
OMIM:615285 |
Mantle Cell Lymphoma |
|
Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 68 |
|
Sepsis, B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T... |
OMIM:612260 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Increased serum iron, Abnormal erythrocyte enzyme level, Increased fecal porphyr... |
ORPHA:101330 |
Acquired Purpura Fulminans |
|
Sepsis, Skin rash, Hepatic failure, Thrombocytopenia, Elevated circulating C-reactive protein con... |
ORPHA:49566 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Neutropenia, Edema, Anemia, Splenomegaly, Increased circulating fer... |
OMIM:603552 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Discoid lupus r... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Discoid lupus r... |
OMIM:233710 |
Acute Lung Injury |
|
Sepsis, Increased circulating surfactant protein level, Pneumonia, Edema, Acute pancreatitis, Ele... |
ORPHA:178320 |
Late-Onset Isolated Acth Deficiency |
|
Sepsis, Macrocytic anemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Celiac disease, Failur... |
ORPHA:199299 |
Pyomyositis |
|
Sepsis, Leukocytosis, Myositis, Recurrent cutaneous abscess formation, Weight loss, Recurrent inf... |
ORPHA:764 |
Toxic Epidermal Necrolysis |
|
Sepsis, Dysphagia, Neutropenia, Weight loss, Intestinal perforation, Anemia, Pancreatitis, Malabs... |
ORPHA:537 |
Igg4-Related Retroperitoneal Fibrosis |
|
Ureteropelvic junction obstruction, Elevated circulating C-reactive protein concentration, Nephro... |
ORPHA:49041 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Nephrotic syndrome, Monocytosis, Failure to thrive, Edema, Hemolytic-uremic syndrom... |
OMIM:619644 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612926 |
Necrotizing Enterocolitis |
|
Leukocytosis, Hyponatremia, Neutropenia, Small for gestational age, Peritonitis, Ascites, Edema, ... |
ORPHA:391673 |
Bullous Impetigo |
|
Sepsis, Recurrent bacterial skin infections, Pustule, Septic arthritis |
ORPHA:36237 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Dysphagia, Laryngeal edema, Pharyngeal edema, Intestinal edema, Facial edema, Abnor... |
ORPHA:100050 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Discoid lupus r... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Hepatomegaly, Lymphadenitis, Discoid lupus r... |
OMIM:233690 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Sepsis, Psoriasiform dermatitis, Hyponatremia, Recurrent bronchitis, Bronchiectasis, Failure to t... |
ORPHA:293978 |
Primary Intestinal Lymphangiectasia |
|
Functional abnormality of the gastrointestinal tract, Decreased circulating antibody level, Reduc... |
ORPHA:90362 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Hepatomegaly, Pneumonia, Chronic otitis media, Recurrent ... |
ORPHA:169090 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Failure to thrive, Membranous nephropathy, Recurrent viral... |
OMIM:618999 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Periodontitis, Incre... |
ORPHA:167 |
Neonatal Alloimmune Neutropenia |
|
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Jaundice |
ORPHA:464370 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Sinusitis, Neutropenia, Abnormality of the small intestin... |
ORPHA:51636 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Hepatomegaly, Leukocytosis,... |
ORPHA:77297 |
Alg12-Cdg |
|
Hypospadias, Sepsis, Complete or near-complete absence of specific antibody response to tetanus v... |
ORPHA:79324 |
Angioedema, Hereditary, 1 |
|
Laryngeal edema, Pharyngeal edema, Intestinal edema, Angioedema |
OMIM:106100 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Villous atrophy, Failure to thrive, Reduced natural killer cell activity, Anemia... |
OMIM:616050 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Abnormal gastric mucosa morphology, Helicobacter ... |
ORPHA:2494 |
Microsporidiosis |
|
Sinusitis, Sepsis, Cholangitis, Myocarditis, Brain abscess, Hepatitis, Infectious encephalitis, L... |
ORPHA:2552 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Recurrent infections, Hyperammonemia, Neonatal sepsis, 3-Methylglutaconic acid... |
OMIM:614739 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulatin... |
OMIM:274150 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Rhinitis, Weight loss, Anemia, Splenomeg... |
ORPHA:507 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phyt... |
OMIM:301000 |
Ebola Hemorrhagic Fever |
|
Sepsis, Dysphagia, Leukopenia, Hepatitis, Melena, Gastrointestinal hemorrhage, Increased circulat... |
ORPHA:319218 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Failure to thrive, Hypercholesterolemia, Hypoalbuminemia, Protei... |
OMIM:615863 |
Stevens-Johnson Syndrome |
|
Sepsis, Dysphagia, Weight loss, Dysuria, Anemia, Pancreatitis, Renal insufficiency, Acute hepatic... |
ORPHA:36426 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pn... |
OMIM:601495 |
Immunodeficiency 50 |
|
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... |
OMIM:300988 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Sepsis, Thrombocytosis, Leukocytosis, Dysphagia, Hyponatremia, Hypernatremia, Myogl... |
ORPHA:94093 |
Rat-Bite Fever |
|
Myocarditis, Sepsis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Weight l... |
ORPHA:31205 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morphology, Esop... |
ORPHA:2198 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Weight loss, Anemia, Malabsorptio... |
ORPHA:98850 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia |
ORPHA:64741 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Dehydration, Weight loss, Edema, Abnormal circ... |
ORPHA:103910 |
Melioidosis |
|
Brain abscess, Sepsis, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prost... |
ORPHA:31202 |
Pfapa Syndrome |
|
Hepatomegaly, Infectious encephalitis, Weight loss, Arthritis, Malabsorption, Splenomegaly, Recur... |
ORPHA:42642 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Weight loss, Bence Jones Proteinuria, Anemia, Splenomegaly, ... |
ORPHA:100024 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Recurrent infections, Gout, Hyperuricemi... |
OMIM:617056 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Ascites, Failure to thrive, Anemia, Patent ductus arteriosus, Decreased liver funct... |
OMIM:608104 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Esophageal varix, ... |
ORPHA:53035 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Recurrent staphyloco... |
ORPHA:2968 |
Igg4-Related Aortitis |
|
Hydronephrosis, Weight loss, Increased circulating IgG4 level, Increased inflammatory response, I... |
ORPHA:449400 |
Classic Galactosemia |
|
Sepsis, Hepatomegaly, Ascites, Hepatic failure, Elevated hepatic transaminase, Abnormal erythrocy... |
ORPHA:79239 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Scedosporiosis |
|
Sinusitis, Sepsis, Arthralgia/arthritis, Abnormal jejunum morphology, Pericarditis, Pneumonia, En... |
ORPHA:449280 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Leukocytosis, Lung abscess, Gastrointestinal dysmotility, Acute coliti... |
ORPHA:67 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis, Hyperglycinemia, Hyperalaninemia |
OMIM:619059 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Sepsis, Heavy proteinuria, Leukopenia, Nephrotic syndrome, Macroglossia, Decreased circulating Ig... |
ORPHA:505248 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Weight loss, Anemia, Abnormality of the pancreas, Neutrophilia, Elevated hepatic t... |
ORPHA:54251 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi... |
OMIM:619377 |
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Sepsis, Recurrent upper respiratory tract infections |
OMIM:619599 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Episodic hemolytic anemia, Increased blood urea nitrogen, M... |
ORPHA:251004 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Thrombocytopenia, Acute leukemia, Chronic otitis media, Weight loss, ... |
ORPHA:3226 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic failure, H... |
OMIM:602579 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Weight loss, Splenomegaly, Aminoaciduria, Jaundice |
ORPHA:79238 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Sepsis, Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, High palate... |
OMIM:619418 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
Meningococcal Meningitis |
|
Sepsis, Infectious encephalitis, Skin rash, Elevated circulating C-reactive protein concentration... |
ORPHA:33475 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated circulating c... |
OMIM:235400 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Weight loss, ... |
ORPHA:131 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... |
ORPHA:906 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Recurrent infections, Abnormal dense granules, Giant neutr... |
OMIM:214500 |
Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Leukocytosis, Pericarditis, Elevated hepatic transaminase, Abnormal ci... |
ORPHA:829 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Hypocholesterolemia, Hyper... |
OMIM:607765 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Sepsis, Pyoderma, Abnormal blood ion concentration, Urinary retention, Renal cyst, Recurrent urin... |
ORPHA:79404 |
Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria |
OMIM:602079 |
Lamellar Ichthyosis |
|
Sepsis, Erythroderma, Chronic otitis media, Renal insufficiency, Recurrent respiratory infections... |
ORPHA:313 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Abnormal renal... |
ORPHA:158057 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Protein-losing enteropathy, Hyperglycinemia, Lacticaciduria |
OMIM:619063 |
Immunodeficiency 31C |
|
Eczema, Abnormal intestine morphology, Villous atrophy, Chronic mucocutaneous candidiasis, Lympho... |
OMIM:614162 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Weight loss, Edema, Arthritis, Abnormal eosinophil morphology, Eosinophilia,... |
ORPHA:3165 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Leukocytosis, Weight loss, Increased circulating IgE level, Hypereosinophilia,... |
ORPHA:2902 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Arthritis, Elevated transferrin saturation, Cirrhosis,... |
OMIM:604250 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Cleft palate, Microglossia, Aspiration pneumonia |
ORPHA:141152 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Splenomegaly, Hyperammonemia,... |
ORPHA:79312 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Odynophagia, Chronic kidney disease, Pancytopenia, Hemosiderinur... |
ORPHA:447 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Dysphagia, Gastrointestinal dysmotility, Weight loss, Anemia, Hyperalaninemia, Cirrhosi... |
ORPHA:298 |
Sickle Cell Anemia |
|
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Lassa Fever |
|
Conjunctivitis, Sepsis, Dysphagia, Facial edema, Oliguria, Increased circulating IgM level, Jaundice |
ORPHA:99824 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... |
ORPHA:85450 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Edema, Acne, Arthritis... |
ORPHA:324964 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Eosinophilia, Erythroderma, Neutropenia, Villous atrophy, Coombs-positive hemolytic anemi... |
OMIM:304790 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Failure to thrive in infancy, Erythroderma, Villous atrophy, Decreased circulating IgA le... |
OMIM:619510 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Micropenis, Acute pancreatitis, Hemolytic anemia, Portal hypertension, Perica... |
OMIM:619487 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, In... |
ORPHA:98848 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Pustule, Weight loss... |
ORPHA:171876 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Sepsis, Edema of the dorsum of hands, Edema of the dorsum of feet |
ORPHA:544503 |
Radiation Proctitis |
|
Sepsis, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum morp... |
ORPHA:70475 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Neonatal sepsis, Hypoalbuminemia, Prolonged neonatal ... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Neonatal sepsis, Hypoalbuminemia, Prolonged neonatal ... |
ORPHA:529799 |
Calciphylaxis |
|
Sepsis, Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Edema, Decreased liver function, Gastrointesti... |
ORPHA:79319 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... |
OMIM:613502 |
Sporadic Creutzfeldt-Jakob Disease |
|
Sepsis, Recurrent infections, Recurrent aspiration pneumonia |
ORPHA:204 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss, Myositis |
ORPHA:48918 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... |
ORPHA:905 |
Cinca Syndrome |
|
Leukocytosis, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia, Elevated c... |
OMIM:607115 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating as... |
ORPHA:90003 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Abnormal intestine morphology, Neutropenia, Edema, Decreased circulating IgG lev... |
OMIM:600351 |
Posttransplant Acute Limbic Encephalitis |
|
Sepsis, Hyponatremia |
ORPHA:163921 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis, Histiocytosis |
ORPHA:139436 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Hepatic cysts, Biliary tr... |
ORPHA:400 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... |
OMIM:214950 |
Listeriosis |
|
Myocarditis, Sepsis, Brain abscess, Septic arthritis, Granulomatosis, Jaundice, Liver abscess, Co... |
ORPHA:533 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Sepsis, Failure to thrive, Decreased circulating antibody level, Anemia, Recurrent infections, Re... |
ORPHA:79396 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune ... |
OMIM:614470 |
Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen, E... |
ORPHA:230 |
Netherton Syndrome |
|
Abnormal intestine morphology, Allergic rhinitis, Erythroderma, Villous atrophy, Angioedema, Fail... |
OMIM:256500 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mastocytosis, Weight loss, Splenomegaly |
ORPHA:66661 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy... |
OMIM:601847 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Sepsis, Megacystis, Intestinal malrotation, Polyhydramnios, Multicystic kidney dysplasia, Hypoper... |
ORPHA:2241 |
Psoriasis 14, Pustular |
|
Geographic tongue, Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, F... |
OMIM:614204 |
Poikiloderma With Neutropenia |
|
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... |
OMIM:604173 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Infectious encephalitis, Neutropenia, Pancytopenia, Reduced natural killer cell act... |
OMIM:308240 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyponatremia, Neutropenia, Ascites, Iron deficiency anemia, Chronic kidney disease,... |
ORPHA:1667 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Perioral eczema, Weight loss, Hyperammonemia, Thrombocytopenia, Keratoconjunctivitis, Org... |
ORPHA:79242 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Esophageal varix, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, ... |
ORPHA:75233 |
Brucellosis |
|
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Elevated circula... |
ORPHA:1304 |
Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Pulmonary edema, Pancreatitis, Pneumonia |
ORPHA:70578 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, Hepatosplenomegaly, Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemoly... |
OMIM:606367 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Malabsorption |
OMIM:613662 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidn... |
ORPHA:94059 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Eosinophilia, Elevated circulating C-reacti... |
ORPHA:449395 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Elevated circula... |
OMIM:611762 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Alg6-Cdg |
|
Macroglossia, Failure to thrive, Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholest... |
ORPHA:79320 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Recurrent herpes, Weight loss, Abnormality of the liver, Skin rash, Ab... |
ORPHA:33276 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Failure to thrive, Anemia, Uveitis, Increased blood urea nitrogen, Elevated hepatic... |
ORPHA:90321 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased inflammatory response, Decr... |
ORPHA:158061 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... |
OMIM:617099 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Hematuria, Anemia, Incre... |
ORPHA:91547 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... |
ORPHA:228302 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Abnormal renal physiology, Decreased circulating antibody level, Splenomegaly, Incre... |
ORPHA:540 |
Currarino Syndrome |
|
Gastrointestinal obstruction, Sepsis, Horseshoe kidney, Rectovaginal fistula, Anal atresia, Recur... |
OMIM:176450 |
Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
Immunodeficiency 92 |
|
Cholangitis, Hepatomegaly, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switche... |
OMIM:619652 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... |
OMIM:223900 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, C... |
ORPHA:98849 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Hypomagnese... |
OMIM:175500 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Pericarditis, Weight loss, Pancreatitis, Renal insufficiency, Oliguria... |
ORPHA:188 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis, Hydronephrosis, Megacystis, Polyhydramnios, Hydroureter, Microcolon |
OMIM:619362 |
Nocardiosis |
|
Brain abscess, Sepsis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadeni... |
ORPHA:31204 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Failure to thrive, Hepatitis, Decreased... |
OMIM:614602 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Mala... |
ORPHA:2930 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... |
OMIM:211600 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Increased circulating IgD l... |
OMIM:610377 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Weight loss, Cholelithiasis, Pancreatitis, Cholestatic ... |
ORPHA:65682 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... |
OMIM:143880 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis |
OMIM:616744 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... |
ORPHA:171 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria |
OMIM:612075 |
Hepatocellular Carcinoma |
|
Esophageal varix, Hemobilia, Abnormality of the hepatic vasculature, Portal hypertension, Jaundic... |
ORPHA:88673 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hyperhomocystinemia, Cleft palate, Neutropenia, Methylmalonic aciduria, Stomatitis, Failure to th... |
ORPHA:79284 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Failure to thrive, Weight loss, Arthritis, Punctate keratitis, Cholestatic liver... |
ORPHA:92050 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Hypernatremia, Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's ... |
OMIM:619381 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Scleroderma |
|
Myocarditis, Fasciitis, Abnormal stomach morphology, Uveitis, Intestinal bleeding, Chronic kidney... |
ORPHA:801 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Infant Acute Respiratory Distress Syndrome |
|
Sepsis, Pulmonary edema, Pneumonia |
ORPHA:70587 |
Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Failure to thrive, Recurrent infections, Malabsorption, Thrombocytopenia... |
OMIM:229050 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Villous atrophy, Arthritis, Small for gestational age |
OMIM:613217 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Hydronephrosis, Increased mean platelet volume, Intestinal pseudo-obstruction, ... |
OMIM:300048 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, High, narrow palate, Tubulointerstit... |
ORPHA:228308 |
Kid Syndrome |
|
Keratoconjunctivitis sicca, Sepsis, Psoriasiform dermatitis, Neoplasm of the tongue, Folliculitis... |
ORPHA:477 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... |
ORPHA:79302 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Esophageal varix, Fatal liver failure in infancy, Bone-marrow f... |
ORPHA:275761 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Moderate albuminuria, Sepsis, Neutropenia, Oral-pharyngeal dysphagia, Conjunctivitis, Inflammator... |
ORPHA:95455 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Ane... |
OMIM:251110 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia |
ORPHA:1302 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:86893 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Weight loss, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro... |
ORPHA:90060 |
Follicular Lymphoma |
|
Weight loss, Abnormality of the peritoneum, Splenomegaly, Pleural effusion, Lymphedema |
ORPHA:545 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption |
OMIM:221400 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Hepatomegaly, Dysphagia, Hypoalbuminemia, Nephrotic syndrome,... |
ORPHA:85443 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Predominantly dermal neutrophilic infiltrate, Inflammat... |
ORPHA:3243 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Ascites, Weight loss, Abnormality of the peritoneum, Intesti... |
ORPHA:26790 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Failure to thrive in infancy, Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyel... |
OMIM:612852 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss, Dehydration, Nocturia |
ORPHA:178029 |
Muckle-Wells Syndrome |
|
Leukocytosis, Maculopapular exanthema, Recurrent aphthous stomatitis, Elevated circulating C-reac... |
OMIM:191900 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Arthritis, Uveitis, Skin rash, Elevated circulating C-reactive protein concentratio... |
OMIM:120100 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Hyperlipidemia, Abnor... |
ORPHA:567983 |
Cryptococcosis |
|
Sepsis, Pneumonia, Prostatitis, Peritonitis, Lymphoid leukemia, Osteomyelitis, Cirrhosis, Cerebra... |
ORPHA:1546 |
Castleman Disease |
|
Ureteral obstruction, Weight loss, Anasarca, Anemia, Hematuria, Intestinal obstruction, Abnormali... |
ORPHA:160 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria... |
ORPHA:42 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Ketonuria, Leukopenia, Lipid accumulation in hepatocy... |
ORPHA:20 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Functional abnormality of the gastrointestin... |
ORPHA:29073 |
Chylomicron Retention Disease |
|
Failure to thrive, Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplets, ... |
ORPHA:71 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute monocytic l... |
ORPHA:514 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Familial Mediterranean Fever |
|
Hepatomegaly, Leukocytosis, Pericarditis, Nephrotic syndrome, Peritonitis, Elevated circulating a... |
OMIM:249100 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Parotitis, Uveitis, Enlargement of parotid gland, Maculopapular exa... |
ORPHA:797 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... |
ORPHA:731 |
Transcobalamin Deficiency |
|
Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l... |
ORPHA:859 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Weight loss, Edema, Hyperammonemia, Hyperuricemia, De... |
ORPHA:134 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Cachexia, Ascites, Weight loss, Anemia, Neoplasm of the pancreas, Abnormality of th... |
ORPHA:83469 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Weig... |
ORPHA:465508 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Tub... |
ORPHA:157 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Hyponatremia, Rectal prolapse, Unconjugated hyperbilirubinemia, Schistocytosis, Mic... |
ORPHA:90038 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Ane... |
OMIM:251100 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Retrobulbar optic neuritis, Edema, Anemia, Abnormal granulocyte morph... |
ORPHA:1451 |
Postinfectious Vasculitis |
|
Recurrent candida infections, Elevated circulating C-reactive protein concentration, Inflammatory... |
ORPHA:48435 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehy... |
OMIM:300908 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Weight loss, Crohn's disease, Intestinal obstruction, Recurr... |
OMIM:266600 |
Propionic Acidemia |
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Hepatomegaly, Eczema, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Hyperglycinemia, Hype... |
OMIM:606054 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... |
OMIM:150550 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:98293 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, He... |
OMIM:232220 |
Insulin Autoimmune Syndrome |
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Arthralgia/arthritis, Weight loss, Increased circulating antibody level |
ORPHA:411593 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Hyperhomocystinemia, High palate, Neutropenia, Methylmalonic acidemia, Cystathioninuria, Stomatit... |
OMIM:277380 |
Beta-Thalassemia Intermedia |
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Hepatomegaly, Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration,... |
ORPHA:231222 |
Undifferentiated Pleomorphic Sarcoma |
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Weight loss, Abnormality of the peritoneum |
ORPHA:2023 |
Eosinophilic Granulomatosis With Polyangiitis |
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Sinusitis, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myositis, Weight l... |
ORPHA:183 |
Bone Dysplasia, Lethal Holmgren Type |
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Hepatomegaly, Failure to thrive, Weight loss, Anemia, Patent ductus arteriosus, Recurrent respira... |
ORPHA:1842 |
Juvenile Temporal Arteritis |
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Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis |
ORPHA:26137 |
Shwachman-Diamond Syndrome 1 |
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Hepatomegaly, Neutropenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Failure to ... |
OMIM:260400 |
Hypercholanemia, Familial 1 |
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Failure to thrive, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption |
OMIM:607748 |
Celiac Disease, Susceptibility To, 1 |
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Thrombocytosis, Eczema, Macrocytic anemia, Celiac disease, Stomatitis, Iron deficiency anemia, Fa... |
OMIM:212750 |
Polyarteritis Nodosa |
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Weight loss, Elevated circulating C-reactive protein concentration, Pericarditis, Abnormality of ... |
ORPHA:767 |
Insulin-Resistance Syndrome Type B |
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Abnormal salivary gland morphology, Abnormality of body weight, Pneumonia, Leukopenia, Abnormal c... |
ORPHA:2298 |
Visceral Myopathy 2 |
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Dysphagia, Megaduodenum, Rectal prolapse, Intestinal pseudo-obstruction, Megacystis, Esophagitis,... |
OMIM:619350 |
Primary Myelofibrosis |
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Hepatomegaly, Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, P... |
ORPHA:824 |
Alveolar Echinococcosis |
|
Cholangitis, Eosinophilia, Pancreatic cysts, Abnormality of mesentery morphology, Pedal edema, He... |
ORPHA:284 |
Q Fever |
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Myocarditis, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthema, Infectious enc... |
ORPHA:781 |
Immunodeficiency 23 |
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Eczema, Allergic rhinitis, Neutropenia, Eosinophilia, High palate, Bronchiectasis, Failure to thr... |
OMIM:615816 |
Congenital Short Bowel Syndrome |
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Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrota... |
OMIM:615237 |
Pneumocystosis |
|
Interstitial pneumonitis, Chronic oral candidiasis, Weight loss, Increased circulating antibody l... |
ORPHA:723 |
Whipple Disease |
|
Myocarditis, Hepatomegaly, Cachexia, Hyponatremia, Infectious encephalitis, Pericarditis, Myositi... |
ORPHA:3452 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Eczema, Abnormal intestine morphology, Recurrent herpes, Neutropenia in presence of anti-neutropi... |
ORPHA:391487 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Myositis, Leukemia, Neoplasm of the gastrointestinal tract, Weig... |
ORPHA:99867 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Hypoproteinemia, Cleft palate, High palate, Hydronephrosis, Ascites, Polyhydramnios... |
OMIM:235255 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Eczema, Inflammation of the large intestine, Neutropenia, Dysphagia, Failure to thrive, Decreased... |
OMIM:608809 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss, Bronchiectasis |
ORPHA:1164 |
Systemic Sclerosis |
|
Myocarditis, Abnormal stomach morphology, Intestinal bleeding, Chronic kidney disease, Barrett es... |
ORPHA:90291 |
Juvenile Polyposis Of Infancy |
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High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia,... |
ORPHA:79076 |
Chronic Hiccup |
|
Weight loss, Dehydration |
ORPHA:396 |
Mosaic Trisomy 9 |
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Horseshoe kidney, Hydronephrosis, Cleft palate, High palate, Asplenia, Intestinal malrotation, Po... |
ORPHA:99776 |
Syndromic Diarrhea |
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Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... |
ORPHA:84064 |
Yao Syndrome |
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Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... |
OMIM:617321 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hyponatremia, Pericardial effusion, Ascites, Anasarca, Decreased circulating antibody level, Poly... |
OMIM:618183 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Peritonitis, Weight loss, Pedal edema, Ileus |
ORPHA:168811 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Failure to thrive, Weight loss, Hematuria, Nephrolithiasis, Renal i... |
ORPHA:35710 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Pericarditis, Monoclonal elevation of circulating IgA, Nephrotic synd... |
ORPHA:91139 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Increased circulating ferritin concentration, Acute kidney i... |
OMIM:618886 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Chronic otitis media, Gastrointestinal hemorrhage, Granulomatosis, Recurrent respirato... |
ORPHA:900 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Hypermethioninemia, Jaundice, Increased mean platelet volume, Villous atrophy, Hepat... |
OMIM:222470 |
Takayasu Arteritis |
|
Gastrointestinal infarctions, Weight loss, Anemia, Arthritis, Increased inflammatory response, In... |
ORPHA:3287 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Pneumonia, Failure to thrive, Neonatal sepsis, Jaundice |
ORPHA:90790 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Mucopolysacchariduria, Small for gestational age, Macroglossia, Sple... |
OMIM:618440 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Pleural effusion, Dysphagia |
ORPHA:50251 |
Oculopharyngodistal Myopathy |
|
High, narrow palate, High palate, Recurrent aspiration pneumonia, Weight loss, Impaired oropharyn... |
ORPHA:98897 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal circulating... |
ORPHA:86839 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Eczema, Esophageal varix, Decreased circulating antibody level, Recurrent infections, Splenomegal... |
OMIM:615688 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Sepsis, Cheilitis, Chapped lip, Failure to thrive, Recurrent skin infections, Recurrent pneumonia... |
ORPHA:158668 |
Fanconi Anemia, Complementation Group V |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia |
OMIM:617243 |
Plague |
|
Sepsis, Hepatomegaly, Inflammation of the large intestine, Endocarditis, Lymphadenitis, Chapped l... |
ORPHA:707 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology, Tracheoesophageal fistu... |
ORPHA:93941 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Failure to thrive, Nephrocalcinosis, Hematuria, Decreased glomerular f... |
ORPHA:93598 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia, Aminoaciduria, Methylmalonic aciduria |
ORPHA:1933 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Weight loss, Hematuria, Anemia, Pancytopenia, ... |
ORPHA:520 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Hyponatremia, Neutrophilia, Cerebral edema, Elevated circulating C-reactive protein... |
ORPHA:1930 |
Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Neonatal sepsis, Vesicoureteral reflux |
OMIM:619217 |
Menkes Disease |
|
Sepsis, Malabsorption, Osteomyelitis, Gastrointestinal hemorrhage, Prolonged neonatal jaundice, B... |
ORPHA:565 |
Pancreatic Lipase Deficiency |
|
Hypolipidemia, Steatorrhea, Fat malabsorption |
OMIM:614338 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Weight loss, Anemia, Neoplasm of the pancreas, Pancreatitis, Elevated carcinoma antigen ... |
ORPHA:370348 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... |
OMIM:619079 |
Rheumatoid Arthritis |
|
Weight loss, Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Joint s... |
OMIM:180300 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Villous atrophy, Pustule, Failure to thrive, Duodenitis, Increased circulating IgE ... |
OMIM:614328 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Weight loss, Panniculitis, Edema, Splenomegaly, Inflammatory abnormality of the eye |
ORPHA:33577 |
Diarrhea 9 |
|
Failure to thrive, Villous atrophy |
OMIM:618168 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Bone marrow hypocellularity, Splenomegaly, Skin rash |
ORPHA:391 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Failure ... |
ORPHA:1018 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Hepatomegaly, Pustule, Neutropenia, Leukopenia, Weight loss, Anemia, Splenomegaly, M... |
ORPHA:50918 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Mastocytosis |
|
Hepatomegaly, Hypercalcemia, Acute leukemia, Angioedema, Chronic leukemia, Splenomegaly, Gastroin... |
ORPHA:98292 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Tubulointerstitial nephritis, Normochromic anemia, Decreased glomerular filtr... |
ORPHA:91500 |
Polymyositis |
|
Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Weight loss, Arth... |
ORPHA:732 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Gastrointestinal dysmotility, Weight loss, Renal insufficiency,... |
ORPHA:330001 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive p... |
ORPHA:676 |
Familial Pancreatic Carcinoma |
|
Intestinal pseudo-obstruction, Peritoneal abscess, Functional intestinal obstruction, Weight loss... |
ORPHA:1333 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Cleft palate, Abnormal liver lobulation, Increased nuchal translucency, O... |
OMIM:608022 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea |
OMIM:618752 |
Diarrhea 2, With Microvillus Atrophy |
|
Abnormal intestine morphology, Villous atrophy, Dehydration |
OMIM:251850 |
Glucagonoma |
|
Hepatomegaly, Abnormal gastrointestinal motility, Hypercalcemia, Ascites, Stomatitis, Acanthocyto... |
ORPHA:97280 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Urinary retention, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Reduced C-p... |
ORPHA:2126 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Acanthocytosis, Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalip... |
ORPHA:96180 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal inflammatory response, Hepatomegaly, Hyperproteinemia, Neutropenia, Pancytopenia, Anemia... |
ORPHA:158048 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Hypoproteinemia, High palate, Hydronephrosis, Ascites, Polyhydramnios, Splenomegaly... |
ORPHA:1655 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abnormality, ... |
ORPHA:79168 |
Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Abnormal mast cell morphology |
ORPHA:398189 |
Vipoma |
|
Hepatomegaly, Abnormal gastrointestinal motility, Hypercalcemia, Benign gastrointestinal tract tu... |
ORPHA:97282 |
Goodpasture Syndrome |
|
Macroscopic hematuria, Weight loss, Anemia, Cylindruria, Increased blood urea nitrogen, Erythrocy... |
OMIM:233450 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis |
ORPHA:86884 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules, Bronchiectasis |
OMIM:619445 |
Ileal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Hydronephrosis, Small intestine carcinoid, Iron deficiency anemia, ... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Hydronephrosis, Small intestine carcinoid, Iron deficiency anemia, ... |
ORPHA:100077 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Tubuloin... |
ORPHA:79259 |
Abetalipoproteinemia |
|
Acanthocytosis, Abetalipoproteinemia, Fat malabsorption |
OMIM:200100 |
Somatostatinoma |
|
Hepatomegaly, Hypercalcemia, Hypochromic microcytic anemia, Ascites, Gallbladder dysfunction, Wei... |
ORPHA:97283 |
Inflammatory Bowel Disease 11 |
|
Weight loss, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Splenomegaly, Intestinal... |
ORPHA:32960 |
Xfe Progeroid Syndrome |
|
Cachexia, Ascites, Elevated hepatic transaminase, Proteinuria, Renal insufficiency |
OMIM:610965 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... |
OMIM:615710 |
Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Recurrent... |
OMIM:260920 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Recurrent acute respiratory tract i... |
ORPHA:95409 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... |
OMIM:263300 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Failure to thrive, Hyperechogenic pancreas, Abn... |
ORPHA:456312 |
Juvenile Polyposis Syndrome |
|
Brain abscess, Neoplasm of the small intestine, Intussusception, Gastrointestinal hemorrhage, Sma... |
ORPHA:2929 |
Addison Disease |
|
Hyperkalemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Celiac disease, Failure to thrive, ... |
ORPHA:85138 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... |
ORPHA:309108 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Dysphagia, Leukopenia, Rhinitis, Fulminant hepatitis, Odynophagia, Fac... |
ORPHA:319213 |
Ctcf-Related Neurodevelopmental Disorder |
|
Sepsis, Cleft palate, Small for gestational age, Failure to thrive, Phimosis, Recurrent infection... |
ORPHA:363611 |
Familial Colorectal Cancer Type X |
|
Abnormal circulating creatine concentration, Neoplasm of the rectum, Stomach cancer, Hepatocellul... |
ORPHA:440437 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Weight loss, Elevated urinary norepinephr... |
ORPHA:94080 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss, Recurrent infections |
ORPHA:703 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss, Abnormal circulating cholester... |
ORPHA:399 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibros... |
ORPHA:14 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgA level, Recurrent viral infections, Chronic sinusitis, Weight... |
ORPHA:420741 |
Cap Polyposis |
|
Colorectal polyposis, Weight loss, Hematochezia, Atrophic gastritis |
ORPHA:160148 |
Erythrokeratodermia Variabilis |
|
Weight loss, Skin rash |
ORPHA:317 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Aganglionic megacolon, Hypocalcemia |
ORPHA:1438 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Leukocytosis, Abnormal isohemagglutinin level, Small for gestational age, Failure t... |
ORPHA:99843 |
Trigonocephaly 1 |
|
Meckel diverticulum, Long penis |
OMIM:190440 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary vanillylmandelic acid, Failure to thrive, Weight loss, Anemia, Elevated urinary ... |
OMIM:256700 |
Isaac Syndrome |
|
Weight loss |
ORPHA:84142 |
Chronic Beryllium Disease |
|
Weight loss, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, High palate, Neutropenia, Normocytic anemia, Thrombocytopenia, Failure to thrive, H... |
OMIM:617941 |
Pearson Syndrome |
|
Neutropenia, Lacticaciduria, Hypophosphatemia, Splenomegaly, Steatorrhea, Pancytopenia, Hydrops f... |
ORPHA:699 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... |
ORPHA:3337 |
Idiopathic Bronchiectasis |
|
Cachexia, Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent Haemophilus inf... |
ORPHA:60033 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Horseshoe kidney, Rectal prolapse, Hydronephrosis, Pericardial effusion, Intesti... |
OMIM:235510 |
Gm1 Gangliosidosis |
|
Dysphagia, Infectious encephalitis, Failure to thrive, Macroglossia, Weight loss, Hydrops fetalis... |
ORPHA:354 |
Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
Pemphigus Vulgaris |
|
Weight loss, Recurrent infections, Recurrent cutaneous abscess formation |
ORPHA:704 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Leukocytosis, Osteomyelitis, Periodontitis, Recurrent staphylococ... |
OMIM:116920 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Intestinal perforation, Malab... |
OMIM:603041 |
Renpenning Syndrome |
|
Hypospadias, High, narrow palate, Cachexia, Cleft palate, Anal atresia |
ORPHA:3242 |
Attrv30M Amyloidosis |
|
Abnormal renal physiology, Weight loss, Nephropathy |
ORPHA:85447 |
Sickle Cell Anemia |
|
Recurrent bacterial infections, Hepatomegaly, Leukocytosis, Hematuria, Cholelithiasis, Splenomega... |
OMIM:603903 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... |
ORPHA:1876 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Weight loss, Cachexia, Hyperlipoproteinemia |
ORPHA:1979 |
Urachal Cyst |
|
Leukocytosis, Pyuria, Peritonitis, Abscess, Hematuria, Dysuria, Elevated circulating C-reactive p... |
ORPHA:488 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Odynophagia, Hyperammonemia, Uveitis, Maculopapular exanth... |
ORPHA:99826 |
Nephroblastoma |
|
Hematuria, Weight loss, Neoplasm of the liver |
ORPHA:654 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Brain abscess, Septic arthritis, Pleural empyema, Intussusception, Hemolytic anemia,... |
ORPHA:544482 |
Ppoma |
|
Hepatomegaly, Hypercalcemia, Ascites, Weight loss, Neoplasm of the pancreas, Cholelithiasis, Neop... |
ORPHA:97278 |
Yellow Fever |
|
Leukocytosis, Elevated circulating creatine kinase concentration, Anuria, Elevated circulating cr... |
ORPHA:99829 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Juvenile Dermatomyositis |
|
Dysphagia, Calcinosis, Pericarditis, Myositis, Elevated circulating creatine kinase concentration... |
ORPHA:93672 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Matthew-Wood Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of th... |
ORPHA:2470 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Eczema, Portal fibrosis, Angioedema, Splenomegaly, Hepatosplenomegaly, Eosinophilia,... |
ORPHA:3260 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Synovitis, Hip osteoarthritis, Oligoarthritis, Knee osteoarthritis, Weight loss, Anemia, Arthriti... |
ORPHA:85408 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Hypercalcemia, Increased urinary cortisol level, Peptic ulcer, Weight loss, Esoph... |
ORPHA:913 |
Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Hepatomegaly, Eczema, Bronchiectasis, Failure to thrive, Weight loss,... |
ORPHA:79128 |
Mungan Syndrome |
|
Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Vesicoureteral re... |
OMIM:611376 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Abnormality of the ureter, Splenomegaly |
ORPHA:1133 |
Malignant Atrophic Papulosis |
|
Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforation, Intestinal fistul... |
ORPHA:679 |
Loeffler Endocarditis |
|
Weight loss, Eosinophilia, Pericarditis |
ORPHA:75566 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Edema, Polyhydramnios, Facial edema, Protein-losing enteropathy, Lymphedema |
OMIM:618154 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Elevated urinary epinephrine, Weight loss, Hematuria, Glomerular sclerosis, Elevat... |
ORPHA:276621 |
Parathyroid Carcinoma |
|
Hypercalcemia, Dysphagia, Nephrocalcinosis, Weight loss, Pancreatic adenocarcinoma, Hypophosphate... |
ORPHA:143 |
Harrod Syndrome |
|
Pyloric stenosis, High, narrow palate, Hypospadias, Aganglionic megacolon, High palate, Failure t... |
OMIM:601095 |
Behçet Disease |
|
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... |
ORPHA:117 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Weight loss, Recurrent infections, Recurrent urina... |
ORPHA:361 |
Zygomycosis |
|
Sinusitis, Myocarditis, Brain abscess, Colon perforation, Neutropenia, Fasciitis, Hepatitis, Mele... |
ORPHA:73263 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Sepsis |
ORPHA:505395 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Gastritis, Renal tubu... |
ORPHA:31826 |
Grfoma |
|
Hepatomegaly, Hypercalcemia, Ascites, Weight loss, Neoplasm of the pancreas, Cholelithiasis, Neop... |
ORPHA:97261 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Weight loss, Hypercalcemia, Calcium nephrolithiasis |
ORPHA:97289 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Ureteral duplication, Neutropenia, Bronchiectasis, Anemia, Recurrent infections, Bifid ureter, Ac... |
OMIM:601347 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Cachexia, Aganglionic megacolon, Ileus |
ORPHA:52503 |
Christianson Syndrome |
|
Cachexia, Gastroesophageal reflux, Dysphagia |
ORPHA:85278 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Weight loss, Extrahepatic cholestasis, Jaundice |
ORPHA:99978 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Pulmonary edema, Chro... |
ORPHA:340 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Microvillus Inclusion Disease |
|
Villous atrophy, Nephrocalcinosis, Abnormal renal physiology, Abnormality of small intestinal vil... |
ORPHA:2290 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Pancytopenia, Morbilliform rash... |
ORPHA:99827 |
Erdheim-Chester Disease |
|
Hydronephrosis, Weight loss, Retroperitoneal fibrosis, Anemia, Dysuria, Osteomyelitis, Renal insu... |
ORPHA:35687 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Failure to thrive, Increased circul... |
OMIM:618213 |
Colchicine Poisoning |
|
Myocarditis, Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Renal ins... |
ORPHA:31824 |
Thymic Carcinoma |
|
Palpebral edema, Weight loss, Edema |
ORPHA:99868 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Hypoplastic colon, Hepatic fibrosis, Ascites, Enlarged kidn... |
OMIM:200995 |
Sarcoidosis, Susceptibility To, 1 |
|