Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Skin rash, Dehydration, Leukopenia, Sepsis, Chronic otitis medi... |
ORPHA:33355 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Malabsorption, Decreased circulating IgA level, Intussusception, Decr... |
ORPHA:90363 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Sepsis, Abnormal lymphocyte... |
ORPHA:229717 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Sepsis, Intermittent thrombocytopenia, Decreased cir... |
OMIM:616740 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Hypocalcemia, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis... |
ORPHA:47 |
Autosomal Agammaglobulinemia |
|
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski... |
ORPHA:33110 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Hyperammonemia, Sepsis, Renal insufficienc... |
ORPHA:289916 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Skin rash, Hepatic failure, Leukopenia, Hydrops fetalis, Sepsis, My... |
ORPHA:292 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Sepsis, Hypergalactosemia, Cholestasis |
ORPHA:570422 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Decreased prealbumin level, Pneumonia, Fail... |
ORPHA:37042 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... |
ORPHA:95427 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Esophageal varix, Gastrointestinal hemorrhage, Jaundice, Hype... |
ORPHA:64743 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... |
OMIM:616100 |
Pgm3-Cdg |
|
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone... |
ORPHA:443811 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... |
ORPHA:276 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Felty Syndrome |
|
Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Splenomeg... |
ORPHA:47612 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... |
ORPHA:169154 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... |
OMIM:614700 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent otitis media, Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absenc... |
OMIM:618986 |
Alg1-Cdg |
|
Decreased liver function, Nephrotic syndrome, Sepsis, Abnormality of the gastrointestinal tract, ... |
ORPHA:79327 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... |
ORPHA:3032 |
Omenn Syndrome |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Se... |
ORPHA:39041 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplastic anemia, EBV en... |
OMIM:615122 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... |
ORPHA:2070 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased cir... |
OMIM:308230 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Sepsis, Esophageal varix... |
ORPHA:480520 |
Galactosemia |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Increased level of galactitol in pla... |
ORPHA:352 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, Dysphagia, W... |
ORPHA:930 |
Bacterial Toxic-Shock Syndrome |
|
Sepsis, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic ar... |
ORPHA:36234 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Neonatal Alloimmune Neutropenia |
|
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia |
ORPHA:464370 |
Specific Granule Deficiency 2 |
|
Failure to thrive, Recurrent otitis media, Sepsis, Recurrent bacterial infections, Recurrent pneu... |
OMIM:617475 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Sepsis, Aplastic anemia, Ma... |
ORPHA:811 |
Shigellosis |
|
Hepatic failure, Urethritis, Sepsis, Abscess, Myocarditis, Cholestasis, Uveitis, Pneumonia, Micro... |
ORPHA:810 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections... |
OMIM:612840 |
Chronic Granulomatous Disease |
|
Malabsorption, Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Tracheoesophageal fistula, Ec... |
ORPHA:379 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Sepsis, Enlarged kidney, Proteinuria, Bone marrow hypocellularity, Nephrotic syndro... |
OMIM:617303 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otit... |
ORPHA:331235 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Onychomycosis, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsilli... |
OMIM:618935 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Mirage Syndrome |
|
Decreased body weight, Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Hypospadias, L... |
OMIM:617053 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Re... |
ORPHA:2686 |
Hirschsprung Disease |
|
Sepsis, Failure to thrive in infancy, Intestinal obstruction, Intestinal polyposis, Weight loss, ... |
ORPHA:388 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... |
OMIM:614817 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hepatic steatosis, Argi... |
OMIM:603471 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Hepatomegaly, Cleft palate, Otitis media, Sepsis, Splenomegaly, Recurrent urinary tr... |
OMIM:612541 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Pleural empyem... |
ORPHA:36238 |
Angioedema, Hereditary, 3 |
|
Intestinal edema, Pharyngeal edema, Facial edema, Angioedema |
OMIM:610618 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... |
OMIM:300755 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Cleft palate, Hepatic failur... |
OMIM:619573 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Cirrhosis, Hepatosplenomegaly, Recurrent upper... |
ORPHA:263501 |
Immunodeficiency 66 |
|
Sepsis, Defective T cell proliferation, Pustule, Recurrent skin infections |
OMIM:618847 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Dysg... |
ORPHA:100025 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... |
ORPHA:231154 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... |
OMIM:602450 |
Immunodeficiency 59 And Hypoglycemia |
|
High palate, Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections,... |
OMIM:233600 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Recur... |
OMIM:209920 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormality of the hepatic vasculature, Skin rash, Macular edema, Sepsis, Normocytic anemia, Neph... |
ORPHA:247691 |
Desmoid Tumor |
|
Malabsorption, Desmoid tumors, Sepsis, Intestinal obstruction, Intestinal polyposis, Hydronephros... |
ORPHA:873 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... |
OMIM:613501 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Hematuria, Myocarditis, Bone marro... |
ORPHA:549 |
Sepsis In Premature Infants |
|
Decreased liver function, Decreased body weight, Elevated circulating C-reactive protein concentr... |
ORPHA:90051 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent... |
OMIM:616022 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Skin... |
OMIM:618963 |
Refractory Celiac Disease |
|
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Inflammatory abno... |
ORPHA:398063 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Skin rash, Hepatic failure, Sepsis, Thromb... |
ORPHA:49566 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... |
OMIM:615285 |
Immunodeficiency 68 |
|
Recurrent skin infections, Lymphadenitis, Abscess, Sepsis, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:612260 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He... |
OMIM:233710 |
Mantle Cell Lymphoma |
|
Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti... |
ORPHA:101330 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hemophagocytosis, Splenomeg... |
OMIM:603552 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612922 |
Acute Lung Injury |
|
Increased circulating surfactant protein level, Elevated circulating C-reactive protein concentra... |
ORPHA:178320 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612925 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Eosinophilia, Sepsis, Normocytic anemia, Macrocytic anemia, Hepatitis, Hashimo... |
ORPHA:199299 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He... |
OMIM:233690 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Hematuria, Elevated ... |
ORPHA:49041 |
Pyomyositis |
|
Leukocytosis, Sepsis, Myositis, Renal insufficiency, Recurrent infections, Weight loss, Recurrent... |
ORPHA:764 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neu... |
OMIM:619644 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Toxic Epidermal Necrolysis |
|
Dysuria, Malabsorption, Pancreatitis, Acute hepatic failure, Anemia, Tracheoesophageal fistula, S... |
ORPHA:537 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Sepsis, Pustule, Septic arthritis |
ORPHA:36237 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612926 |
Necrotizing Enterocolitis |
|
Leukocytosis, Small for gestational age, Peritonitis, Edema, Neutropenia, Hyponatremia, Thrombocy... |
ORPHA:391673 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Pharyngeal edema, Facial edema, Abnormal soft palate morphology, Tongue edema, ... |
ORPHA:100050 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Generalized edema, Weight loss, Decreased circulating IgA level, Decreased c... |
ORPHA:90362 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps... |
ORPHA:169090 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis, Eosino... |
OMIM:618999 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Sepsis, Autoimmune thrombocytopenia, Recurrent upper... |
ORPHA:293978 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Angioedema, Laryngeal edema, Periorbital edema |
OMIM:106100 |
Alg12-Cdg |
|
Sepsis, B lymphocytopenia, Complete or near-complete absence of specific antibody response to tet... |
ORPHA:79324 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, L... |
ORPHA:77297 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve... |
ORPHA:51636 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Schistocytosis, Elevated circ... |
OMIM:274150 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... |
ORPHA:2494 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, ... |
OMIM:615863 |
Leishmaniasis |
|
Increased circulating antibody level, Rhinitis, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal ... |
ORPHA:507 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... |
OMIM:300988 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hyperammonemia, 3-Methylglutaconic aciduria, Recurrent infections, Neonatal se... |
OMIM:614739 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Sepsis, Myocarditis, Biliary tract abnormalit... |
ORPHA:2552 |
Ebola Hemorrhagic Fever |
|
Melena, Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, S... |
ORPHA:319218 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis... |
ORPHA:98850 |
Stevens-Johnson Syndrome |
|
Dysuria, Pancreatitis, Acute hepatic failure, Sepsis, Abnormality of the urethra, Esophageal stri... |
ORPHA:36426 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... |
ORPHA:2198 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Hepatomegaly, Lymphadenitis, Rectal abscess, Eczematoid dermatitis, Osteomyel... |
OMIM:306400 |
Wiskott-Aldrich Syndrome |
|
Melena, Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin te... |
OMIM:301000 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Aspiration pneumonia, Dehydration, Elevated circulati... |
ORPHA:94093 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Hematochezia, Weight loss, Protein-losing enteropathy, Hypoalbuminemia, Edema, Abnor... |
ORPHA:103910 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Cholelithiasis, Decreased body weight, Hyperbilirubinemia, Elevated ci... |
OMIM:614886 |
Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Sepsis,... |
ORPHA:31205 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Pfapa Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephali... |
ORPHA:42642 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Sepsis, Parotitis, Brain abscess, Abnormality of th... |
ORPHA:31202 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... |
ORPHA:100024 |
Caroli Disease |
|
Cholelithiasis, Weight loss, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrho... |
ORPHA:53035 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia |
ORPHA:64741 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Recurr... |
OMIM:617056 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... |
ORPHA:2968 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Inte... |
ORPHA:449400 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhe... |
ORPHA:79303 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Villous atrophy, Renal ... |
OMIM:602579 |
Classic Galactosemia |
|
Hepatomegaly, Hepatic failure, Sepsis, Abnormal erythrocyte enzyme level, Elevated hepatic transa... |
ORPHA:79239 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Hyperglycinemia, Sepsis |
OMIM:619059 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Leukocytosis, Pleural empyema, Constrictive pericarditis, Intestinal obstruction, ... |
ORPHA:67 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
Scedosporiosis |
|
Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Pleural empyema, Sepsis, Endocarditis, Pne... |
ORPHA:449280 |
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent gastroenteritis, Nephrotic syndrome, Decreased circulating IgG level, Macroglossia, Rec... |
ORPHA:505248 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Abnormality o... |
ORPHA:54251 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Prolonged neonatal jaundice, Microvesicular hepatic steatosis, De... |
OMIM:619377 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... |
ORPHA:251004 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abno... |
ORPHA:3226 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep... |
OMIM:619418 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Aplastic anemia,... |
ORPHA:2442 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice |
ORPHA:79238 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Oligohydramnios, Cholestasis, Thromboc... |
OMIM:608104 |
46,Xy Sex Reversal 4 |
|
High palate, Anal atresia, Increased blood urea nitrogen, Cleft palate, Ureteropelvic junction ob... |
OMIM:154230 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
Folate Malabsorption, Hereditary |
|
Failure to thrive, Malabsorption, Leukopenia, Recurrent infections, Neutropenia, Thrombocytopenia... |
OMIM:229050 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy... |
ORPHA:131 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Otitis media, Eczema, Sepsis, Hematochezia, Blepharitis, Conjunctivitis, Inflammation ... |
ORPHA:906 |
Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Skin rash, Sepsis, Renal insufficiency, In... |
ORPHA:33475 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorr... |
OMIM:607765 |
Chediak-Higashi Syndrome |
|
Periodontitis, Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly,... |
OMIM:214500 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin |
ORPHA:542592 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Lamellar Ichthyosis |
|
Dehydration, Sepsis, Chronic otitis media, Renal insufficiency, Erythroderma, Recurrent respirato... |
ORPHA:313 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Adult-Onset Still Disease |
|
Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... |
ORPHA:829 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia |
OMIM:602079 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria, Hyperglycinemia, Protein-losing enteropathy, Recurrent respiratory infections |
OMIM:619063 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Sepsis, Ureteral obstruction, Urinary retention, Pneumonia, Gastrointestinal inflammation, Pyoder... |
ORPHA:79404 |
Eosinophilic Fasciitis |
|
Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Ede... |
ORPHA:3165 |
Immunodeficiency 31C |
|
Lymphopenia, Eczema, Villous atrophy, Chronic mucocutaneous candidiasis, Autoimmune hemolytic ane... |
OMIM:614162 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Microglossia, Weight loss, Cleft palate |
ORPHA:141152 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Proteinuria, Pericarditis, Weight loss, Stage 5 chronic kidney disease, Recurrent u... |
OMIM:619487 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Abnormali... |
ORPHA:2902 |
Lassa Fever |
|
Facial edema, Jaundice, Sepsis, Oliguria, Increased circulating IgM level, Dysphagia, Conjunctivitis |
ORPHA:99824 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Steatorrhea, Hepatic ... |
OMIM:557000 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Hematuria, Weight loss, Hypercalcemia, Anemia, Thrombocytopenia |
ORPHA:69077 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancytopenia, Re... |
ORPHA:447 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic... |
OMIM:604250 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgE, Decrease... |
OMIM:619510 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Small intestinal dysmotility, Cirrhosis, Ca... |
ORPHA:298 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Dehydration, Renal i... |
ORPHA:79312 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Elevated circulating creatinine concentration... |
ORPHA:85450 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thro... |
OMIM:304790 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin rash, Palmoplantar pus... |
ORPHA:324964 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... |
ORPHA:98848 |
Radiation Proctitis |
|
Rectal fistula, Sepsis, Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology... |
ORPHA:70475 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Edema of the dorsum of feet, Sepsis, Failure to thrive, Edema of the dorsum of hands |
ORPHA:544503 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Protein-losing enteropathy, Hypoalbumi... |
ORPHA:79319 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, R... |
ORPHA:171876 |
Calciphylaxis |
|
Sepsis, Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Focal Myositis |
|
Weight loss, Elevated circulating creatine kinase concentration, Myositis |
ORPHA:48918 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... |
ORPHA:529808 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... |
OMIM:214950 |
Wilson Disease |
|
Joint swelling, Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic fai... |
ORPHA:905 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... |
OMIM:607115 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia... |
ORPHA:400 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Sepsis, Recurrent infections |
ORPHA:204 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... |
ORPHA:90003 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Edema, Neutropenia, Abnormal i... |
OMIM:600351 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Colitis, Elevated circulating C-reactive protein concentration, Lymphocytosis,... |
OMIM:301074 |
Posttransplant Acute Limbic Encephalitis |
|
Sepsis, Hyponatremia |
ORPHA:163921 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia, Arthritis |
ORPHA:139436 |
Listeriosis |
|
Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic arthritis, Osteomyelitis,... |
ORPHA:533 |
Netherton Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Intestinal atresia, Hypernatremic dehydration... |
OMIM:256500 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hy... |
OMIM:601847 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Recurrent skin infections, Sepsis, Smooth tongue, Decreased circulating antibo... |
ORPHA:79396 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated urinary dopamine, Dehydration, Nocturia, Elevated circula... |
ORPHA:230 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... |
OMIM:614470 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Colonic atresia, Jejunal atresia, Recurrent respiratory infections, Lymphopenia, In... |
OMIM:243150 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Intestinal malrotation, Hydroureter, Multicystic kidney dysplasia, Abnormality of the gastrointes... |
ORPHA:2241 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbili... |
ORPHA:1667 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Steatorrhea, Hepatic failure, Cachexia, Esophageal varix, Bone-marrow... |
ORPHA:75233 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... |
OMIM:614204 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Inter... |
ORPHA:139402 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Eczema, Keratoconjunctivitis, Perioral eczema, Organic aciduria, Weight loss, Thr... |
ORPHA:79242 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Eczema, Elevated ci... |
OMIM:615895 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Myocarditis, Epididymitis, P... |
ORPHA:1304 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Dehydration, Leukopenia, Methylmal... |
OMIM:251000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... |
ORPHA:228302 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Splenomegaly, Art... |
OMIM:611762 |
Uremic Pruritus |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... |
ORPHA:94059 |
Cockayne Syndrome Type 1 |
|
Failure to thrive, Increased blood urea nitrogen, Hepatomegaly, Elevated hepatic transaminase, Uv... |
ORPHA:90321 |
Adult Acute Respiratory Distress Syndrome |
|
Pancreatitis, Sepsis, Pulmonary edema, Pneumonia |
ORPHA:70578 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, W... |
OMIM:619381 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... |
ORPHA:449395 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Alg6-Cdg |
|
Failure to thrive, Macroglossia, Decreased LDL cholesterol concentration, Protein-losing enteropa... |
ORPHA:79320 |
Intestinal Dysmotility Syndrome |
|
High palate, Failure to thrive, Decreased intestinal transit time, Polyhydramnios, Weight loss |
OMIM:620045 |
Currarino Syndrome |
|
Anal atresia, Anal fistula, Sepsis, Recurrent urinary tract infections, Gastrointestinal obstruct... |
OMIM:176450 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, He... |
ORPHA:91547 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... |
OMIM:617099 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Gastroesophageal reflux, Increased blood urea nitrogen, Recurrent infections due to aspiration, A... |
OMIM:223900 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... |
ORPHA:540 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Malabsorption, Cachexia, Intestinal pseudo-obstruction, Weight loss, Gastrointesti... |
OMIM:613662 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia |
OMIM:131400 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Xerostomia, Hematochezia, Glo... |
OMIM:175500 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Elevated circulating C-re... |
ORPHA:158061 |
Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Pancreatitis, Leukocytosis, Myocarditis, Oliguria, Pedal edema, Weight loss, Ren... |
ORPHA:188 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Furrowed tongue, Intestinal ... |
ORPHA:2930 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirub... |
OMIM:211600 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Dehydration, Polyuria, Hypercalciuria, Infantile hypercalcemi... |
OMIM:143880 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Sepsis, Polyhydramnios, Hydronephrosis, Microcolon, Megacystis |
OMIM:619362 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Nocardiosis |
|
Keratitis, Thyroiditis, Osteomyelitis, Lymphadenitis, Peritonitis, Brain abscess, Endocarditis, S... |
ORPHA:31204 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... |
ORPHA:171 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Pedal edema, Esophageal varix, Weight loss, Jaundice, Hyperbilirubinemia, Elevated ... |
ORPHA:88673 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Mevalonic Aciduria |
|
Failure to thrive, Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive p... |
OMIM:610377 |
Kid Syndrome |
|
Keratitis, Failure to thrive, Recurrent bacterial skin infections, Posterior blepharitis, Recurre... |
ORPHA:477 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Failure to thrive, Cleft palate, Skin rash, Unilateral renal agenesis, Elev... |
ORPHA:79284 |
Al Amyloidosis |
|
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Macroglossia, Increased c... |
ORPHA:85443 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Scleroderma |
|
Keratitis, Myocarditis, Uveitis, Pericarditis, Peau d'orange, Abnormal large intestine morphology... |
ORPHA:801 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis... |
OMIM:116920 |
Infant Acute Respiratory Distress Syndrome |
|
Sepsis, Pulmonary edema, Pneumonia |
ORPHA:70587 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Keratitis, Sepsis, Hematuria, Moderate albuminuria, Pneumonia, Rhinitis, Gastrointestinal inflamm... |
ORPHA:95455 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Villous atrophy, Small for gestational age, Arthritis |
OMIM:613217 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, High, narrow pala... |
ORPHA:228308 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartat... |
ORPHA:79302 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hepatic failure, Esophageal varix, Weight loss, Jaundice, Dehydration, Abnormal urin... |
ORPHA:275761 |
Cryptogenic Organizing Pneumonia |
|
Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1302 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Pyloric stenosis, Increased mean platelet volume, Patent ductus arteriosu... |
OMIM:300048 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutrophili... |
OMIM:612852 |
Follicular Lymphoma |
|
Splenomegaly, Abnormality of the peritoneum, Lymphedema, Pleural effusion, Weight loss |
ORPHA:545 |
Isolated Biliary Atresia |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Dark yellow urine, Periportal fibrosis... |
ORPHA:30391 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Rhinitis, Recurren... |
ORPHA:486 |
Sweet Syndrome |
|
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... |
ORPHA:3243 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Abnormality of the peritoneum, Intestinal obstruction, Weigh... |
ORPHA:26790 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Hematuria, Elevated circulating creatinine concentration, Weight loss, Proteinuria,... |
ORPHA:90060 |
Sarcoidosis |
|
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Uveitis, Enlargement of parotid gland, We... |
ORPHA:797 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Dehydration, Methylmalonic aciduria, ... |
OMIM:251110 |
Central Diabetes Insipidus |
|
Failure to thrive, Dehydration, Nocturia, Hyponatremia, Weight loss |
ORPHA:178029 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Methy... |
ORPHA:859 |
Muckle-Wells Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Maculopapular exanthema, Rec... |
OMIM:191900 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Oliguria, Weight loss,... |
ORPHA:514 |
Multiple Myeloma |
|
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Nephropathy,... |
ORPHA:29073 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Hyperammonemia, 3-Methy... |
ORPHA:20 |
Castleman Disease |
|
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Uretera... |
ORPHA:160 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Arthritis, Uveiti... |
OMIM:120100 |
Orthostatic Hypotension 1 |
|
High palate, Nocturia, Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Cachexia, Abnormality of the peritoneum, Weight lo... |
ORPHA:83469 |
Cryptococcosis |
|
Prostatitis, Osteomyelitis, Cirrhosis, Peritonitis, Sepsis, Lymphoid leukemia, Pneumonia, Pleural... |
ORPHA:1546 |
Kaposi Sarcoma |
|
Skin rash, Abnormality of the spleen, Abnormality of the gastrointestinal tract, Lymphedema, Weig... |
ORPHA:33276 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Acanthocytosis, Elevated hepatic transaminase, Hypocholesterolemi... |
ORPHA:71 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hepatomegaly, Leukocytosis, Hyperammonemia, Dehydration, Thrombocytosis, Hyperuricemia... |
ORPHA:134 |
Familial Mediterranean Fever |
|
Crohn's disease, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutr... |
OMIM:249100 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis... |
OMIM:614602 |
Propionic Acidemia |
|
Failure to thrive, Pancreatitis, Hyperglycinuria, Hepatomegaly, Hyperammonemia, Dehydration, Ecze... |
OMIM:606054 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Inflammation of the large intestine, Intestinal obstruction, Recurrent aphthous ... |
OMIM:266600 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hematochezia, Pneumonia, Pancytopenia... |
OMIM:615846 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... |
ORPHA:731 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:157 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Joint swelling, Cholangiocarcinoma, Hepatomegaly, S... |
ORPHA:465508 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl... |
OMIM:601495 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... |
OMIM:619652 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Hypokalemia, Pancreatitis, Intussusception, Leukocytosis, Hemoglobinuria, Dehydrat... |
ORPHA:90038 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Leukocytosis, Splenomegaly, ... |
ORPHA:1451 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... |
ORPHA:48435 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Dehydration, Methylmalonic aciduria, ... |
OMIM:251100 |
Hodgkin Lymphoma |
|
Weight loss, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Ileal ulcer, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Weight loss, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormality of the peritoneum |
ORPHA:2023 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... |
ORPHA:231222 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Fat malabsorption, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
High palate, Megaloblastic anemia, Failure to thrive, Skin rash, Methylmalonic aciduria, Homocyst... |
OMIM:277380 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Steatorrhea, Eczema, Macrocytic... |
OMIM:212750 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Hepatomegaly, Weight loss, Patent ductus arteriosus, Anemia, Recurrent respira... |
ORPHA:1842 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis |
ORPHA:26137 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Malabsorption, Sinusitis, Gastroesophageal reflux, Skin rash, Eosinophilia, Endocarditis, Myositi... |
ORPHA:183 |
Visceral Myopathy 2 |
|
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... |
OMIM:619350 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Increased circulating IgA level, Abnormal circulating fatty-acid concentra... |
ORPHA:2298 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Pericarditis, Weight loss, Abnormality of ... |
ORPHA:767 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Decreased liver function, Pancreatic cys... |
ORPHA:284 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Per... |
OMIM:260400 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... |
ORPHA:824 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss |
OMIM:612075 |
Immunodeficiency 23 |
|
High palate, Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Eczema, Membranoproliferative... |
OMIM:615816 |
Q Fever |
|
Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, Pericarditis, Weight lo... |
ORPHA:781 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... |
ORPHA:723 |
Whipple Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cachexia, Myositis, Myocarditis, Pericarditis, Arthrit... |
ORPHA:3452 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Weight loss, Abnormal eosinophil morphology |
ORPHA:1164 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hypocalcemia, Hepatomegaly, Cleft palate, Splenomegaly, Hypoproteinemia, Micropenis,... |
OMIM:235255 |
Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
Systemic Sclerosis |
|
Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnormal large intestine morphology, Joint s... |
ORPHA:90291 |
Thymoma |
|
Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Aplastic anemia, Myositis, Imbalanc... |
ORPHA:99867 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia |
OMIM:300299 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Dehydration, Abnormal... |
OMIM:615237 |
Mosaic Trisomy 9 |
|
High palate, Hypoplasia of penis, Cleft palate, Intestinal malrotation, Abnormal liver lobulation... |
ORPHA:99776 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Failure to thrive, Cheilitis, Anoperineal fistula, Recurrent skin infections, Sepsis, Urethral st... |
ORPHA:158668 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Peritonitis, Pedal edema, Weight loss, Ascites |
ORPHA:168811 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... |
OMIM:618886 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG... |
OMIM:212065 |
Yao Syndrome |
|
Nephrolithiasis, Inflammatory abnormality of the skin, Skin rash, Xerostomia, Keratoconjunctiviti... |
OMIM:617321 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Small for gestational age, Hypercalciuria... |
OMIM:618440 |
Syndromic Diarrhea |
|
Colitis, Gastritis, Hepatoblastoma, Lymphopenia, Splenomegaly, Hepatomegaly, Cirrhosis, Hypoplasi... |
ORPHA:84064 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Failure to thrive, Dehydration, Hematuria, Hypernatremia, Renal insufficiency, H... |
ORPHA:35710 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Villo... |
ORPHA:391487 |
Pleural Mesothelioma |
|
Dysphagia, Weight loss, Hepatomegaly, Pleural effusion |
ORPHA:50251 |
Takayasu Arteritis |
|
Arthritis, Weight loss, Increased inflammatory response, Gastrointestinal infarctions, Anemia, In... |
ORPHA:3287 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Viral hepatitis, Nephritis, Membranoproliferative glomerulonephritis, Abnorma... |
ORPHA:91139 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Esophageal varix, Pa... |
OMIM:615688 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Neonatal sepsis, Hyponatremia, Pneumonia, Jaundice, Hyperkalemia |
ORPHA:90790 |
Granulomatosis With Polyangiitis |
|
Elevated circulating C-reactive protein concentration, Pancreatitis, Otitis media, Hematuria, Inc... |
ORPHA:900 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytos... |
OMIM:301078 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Aminoaciduria |
ORPHA:1933 |
Oculopharyngodistal Myopathy |
|
High palate, High, narrow palate, Impaired oropharyngeal swallow response, Recurrent aspiration p... |
ORPHA:98897 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abno... |
OMIM:222470 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Polyuria, Hematochezia, Polyhydramnios, Hypertriglyceridemia, Prote... |
OMIM:618183 |
Hypouricemia, Renal, 1 |
|
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... |
OMIM:220150 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis, Neonatal sepsis |
OMIM:619217 |
Laryngotracheoesophageal Cleft Type 4 |
|
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abnormality of the spleen, Abnormality o... |
ORPHA:93941 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Hematuria, Pancytopenia, Stomatitis, Weight loss, Neutropenia, Anemia, ... |
ORPHA:520 |
Plague |
|
Hepatomegaly, Enterocolitis, Hematemesis, Splenomegaly, Skin rash, Lymphadenitis, Sepsis, Endocar... |
ORPHA:707 |
Pancreatic Lipase Deficiency |
|
Hypolipidemia, Fat malabsorption, Steatorrhea |
OMIM:614338 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pancreatitis, Elevated alpha-fetoprotein, Weight loss, Elevated carcino... |
ORPHA:370348 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Hyponatremia, ... |
ORPHA:1930 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Edema, Weight loss, Inflammatory abnormality of the eye, Panniculitis |
ORPHA:33577 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... |
ORPHA:93598 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... |
OMIM:619079 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Pustule, Splenomegaly, Skin... |
ORPHA:50918 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly |
ORPHA:2576 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Weight loss |
ORPHA:391 |
Menkes Disease |
|
Bladder diverticulum, Malabsorption, Osteomyelitis, Sepsis, Prolonged neonatal jaundice, Gastroin... |
ORPHA:565 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenitis, Increased cir... |
OMIM:614328 |
Diarrhea 9 |
|
Failure to thrive, Villous atrophy |
OMIM:618168 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Long penis |
ORPHA:1672 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Keratitis, Esophageal neoplasm, Chronic kidney disease, Failure to thrive, Gastroesophageal reflu... |
ORPHA:1018 |
Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Nephropathy, Pedal edema, Proteinuria, Pleural... |
ORPHA:330001 |
Rheumatoid Arthritis |
|
Joint swelling, Rheumatoid arthritis, Weight loss, Elevated circulating C-reactive protein concen... |
OMIM:180300 |
Polymyositis |
|
Gastroesophageal reflux, Hepatomegaly, Elevated circulating creatine kinase concentration, Arthri... |
ORPHA:732 |
Mastocytosis |
|
Hepatomegaly, Splenomegaly, Mastocytosis, Angioedema, Chronic leukemia, Hypercalcemia, Gastrointe... |
ORPHA:98292 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea |
OMIM:618752 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... |
OMIM:618042 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Panuveitis, Elevated circulating C-reactive protein concentration, Decreased glomerular filtratio... |
ORPHA:91500 |
Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Recurrent pancreatitis, Panc... |
ORPHA:676 |
Familial Pancreatic Carcinoma |
|
Neoplasm of the liver, Exocrine pancreatic insufficiency, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
Diaphanospondylodysostosis |
|
Cleft palate, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Oligohydramnios... |
OMIM:608022 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Dehydration, Abnormal intestine morphology |
OMIM:251850 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:617243 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Neoplasm of the liver, Abnormality of the peritoneum, Urinary retention... |
ORPHA:2126 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss, Hemophagocytosis, Panniculitis |
ORPHA:86884 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Extrahepatic cholestasis, Skin rash, Steatorrhea, Abnorma... |
ORPHA:97280 |
Disorder Of Bile Acid Synthesis |
|
Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Fat malabsorption, Abnorma... |
ORPHA:79168 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology, Cleft palate |
ORPHA:398189 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Increased circulating IgA level, Lymphopenia, Pyloric stenosis, Recurrent infe... |
OMIM:616395 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Hepatic failu... |
ORPHA:1655 |
Vipoma |
|
Neoplasm of the pancreas, Malabsorption, Neoplasm of the liver, Hypokalemia, Hepatomegaly, Benign... |
ORPHA:97282 |
Goodpasture Syndrome |
|
Cylindruria, Increased blood urea nitrogen, Macroscopic hematuria, Weight loss, Proteinuria, Rena... |
OMIM:233450 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions, Bronchiectasis |
OMIM:619445 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Gastrointestinal obstruction, ... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Gastrointestinal obstruction, ... |
ORPHA:100077 |
Inflammatory Bowel Disease 11 |
|
Weight loss, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
Somatostatinoma |
|
Neoplasm of the pancreas, Gallbladder dysfunction, Hepatomegaly, Extrahepatic cholestasis, Steato... |
ORPHA:97283 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pan... |
ORPHA:456312 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Elevated circulating C-reactive protein concentration, Orchitis, Leukocytosis, Splenomegaly, Skin... |
ORPHA:32960 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Intestinal malrotation, Bi... |
OMIM:615710 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Normocytic anemia, Recurrent acute respiratory tract infection, Increased circ... |
ORPHA:95409 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Renal angiomyolipo... |
OMIM:260920 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Decreased circulat... |
OMIM:618278 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Malabsorption, Cachexia, Elevated circulating thymidine concentration, Dysphagia, ... |
OMIM:603041 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Neutropenia, Leukopenia, Aplastic anemia, Urethral stricture, Esophageal stric... |
OMIM:613989 |
Addison Disease |
|
Failure to thrive, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hashimoto ... |
ORPHA:85138 |
Spinocerebellar Ataxia 48 |
|
Dysphagia, Cachexia, Urinary incontinence |
OMIM:618093 |
Non-Functioning Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E... |
ORPHA:94080 |
Lujo Hemorrhagic Fever |
|
Odynophagia, Facial edema, Lymphopenia, Leukocytosis, Elevated circulating C-reactive protein con... |
ORPHA:319213 |
Huntington Disease |
|
Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index, Oral-phar... |
ORPHA:399 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Stomach c... |
ORPHA:440437 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... |
ORPHA:2929 |
Ctcf-Related Neurodevelopmental Disorder |
|
Failure to thrive, Gastroesophageal reflux, Cleft palate, Small for gestational age, Sepsis, Recu... |
ORPHA:363611 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... |
ORPHA:420741 |
Bullous Pemphigoid |
|
Eczema, Weight loss, Recurrent infections, Psoriasiform dermatitis |
ORPHA:703 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Hepatosplenomegaly, D... |
OMIM:301081 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss, Colorectal polyposis, Hematochezia |
ORPHA:160148 |
Erythrokeratodermia Variabilis |
|
Weight loss, Skin rash |
ORPHA:317 |
Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Abnormality of urine catecholamine level, Elevated urinary vanillylmandelic ac... |
OMIM:256700 |
Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... |
ORPHA:14 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent gastroenteritis, Keratitis, Failure to thrive, Narrow palate, Abnormal isohemagglutinin... |
ORPHA:99843 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Weight loss,... |
OMIM:219800 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Weight loss, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
Idiopathic Bronchiectasis |
|
Cachexia, Acute infectious pneumonia, Recurrent lower respiratory tract infections, Recurrent Hae... |
ORPHA:60033 |
Trigonocephaly 1 |
|
Meckel diverticulum, Long penis |
OMIM:190440 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Hypocalcemia, Aganglionic megacolon |
ORPHA:1438 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Corneal stromal edema, Hepatic fail... |
ORPHA:699 |
Attrv30M Amyloidosis |
|
Weight loss, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Gm1 Gangliosidosis |
|
Failure to thrive, Gastroesophageal reflux, Macroglossia, Splenomegaly, Aspiration pneumonia, Hep... |
ORPHA:354 |
Pemphigus Vulgaris |
|
Weight loss, Recurrent infections, Recurrent cutaneous abscess formation |
ORPHA:704 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... |
ORPHA:1876 |
Renpenning Syndrome |
|
Anal atresia, High, narrow palate, Cleft palate, Hypospadias, Cachexia |
ORPHA:3242 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Erysipelas, Rectal prolapse, Protein-losing enteropathy, Lymphedema, Periorbital e... |
OMIM:235510 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hematur... |
OMIM:603903 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... |
ORPHA:3337 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Hyperlipoproteinemia, Abnormal circulating lipid concentration |
ORPHA:1979 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Hematuria |
ORPHA:654 |
Urachal Cyst |
|
Dysuria, Elevated circulating C-reactive protein concentration, Leukocytosis, Peritonitis, Absces... |
ORPHA:488 |
Ppoma |
|
Cholelithiasis, Neoplasm of the pancreas, Hepatomegaly, Extrahepatic cholestasis, Intestinal carc... |
ORPHA:97278 |
Marburg Hemorrhagic Fever |
|
Odynophagia, Pancreatitis, Maculopapular exanthema, Elevated circulating creatinine concentration... |
ORPHA:99826 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Hyperkalemia, Myocarditis, Pneumonia, Decreased urine output, Generalized edema, Se... |
ORPHA:544482 |
Juvenile Dermatomyositis |
|
Elevated circulating C-reactive protein concentration, Skin rash, Palpebral edema, Elevated circu... |
ORPHA:93672 |
Yellow Fever |
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Neutrophilia, Hematemesis, Leukocytosis, Hyperbilirubinemia, Skin rash, Pancreatic hyperplasia, E... |
ORPHA:99829 |
Huntington Disease-Like 2 |
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Weight loss |
OMIM:606438 |
Chronic Myeloid Leukemia |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Idiopathic Hypereosinophilic Syndrome |
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Pancreatitis, Neutrophilia, Eczema, Erythroderma, Portal fibrosis, Joint swelling, Malabsorption,... |
ORPHA:3260 |
Zollinger-Ellison Syndrome |
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Jaundice, Extrahepatic cholestasis, Duodenal ulcer, Hematochezia, Intestinal obstruction, Peptic ... |
ORPHA:913 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Joint swelling, Iridocyclitis, Oligoarthritis, Hepatosplenomegaly, Arthritis, Hip osteoarthritis,... |
ORPHA:85408 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Failure to thrive, Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hy... |
OMIM:618213 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Facial edema, Polyhydramnios, Lymphedema, Protein-losing enteropathy, Edema |
OMIM:618154 |
Parathyroid Carcinoma |
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Nephrolithiasis, Hypophosphatemia, Pancreatitis, Hypercalciuria, Renal cyst, Peptic ulcer, Renal ... |
ORPHA:143 |
Malignant Atrophic Papulosis |
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Arteritis, Peritonitis, Gastrointestinal infarctions, Intestinal fistula, Weight loss, Pleural ef... |
ORPHA:679 |
Aredyld Syndrome |
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Cachexia, Abnormality of the ureter, Hepatomegaly, Splenomegaly |
ORPHA:1133 |
Loeffler Endocarditis |
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Eosinophilia, Weight loss, Pericarditis |
ORPHA:75566 |
Zygomycosis |
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Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Acute infectious pneumonia, ... |
ORPHA:73263 |
Ventilator-Induced Diaphragmatic Dysfunction |
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Sepsis |
ORPHA:505395 |
Lymphoid Interstitial Pneumonia |
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Failure to thrive, Hepatomegaly, Skin rash, Rheumatoid arthritis, Eczema, Enlarged kidney, Weight... |
ORPHA:79128 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Hypercalcemia, Elevated urinary e... |
ORPHA:276621 |
X-Linked Creatine Transporter Deficiency |
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Ileus, Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration |
ORPHA:52503 |
Hemorrhagic Fever-Renal Syndrome |
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Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elevated circulating creat... |
ORPHA:340 |
Behçet Disease |
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Malabsorption, Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Kera... |
ORPHA:117 |
Harrod Syndrome |
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High palate, Failure to thrive, High, narrow palate, Hypospadias, Malrotation of small bowel, Pyl... |
OMIM:601095 |
Familial Glucocorticoid Deficiency |
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Failure to thrive, Recurrent urinary tract infections, Hypernatriuria, Recurrent infections, Hypo... |
ORPHA:361 |
Ethylene Glycol Poisoning |
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Renal tubular dysfunction, Hypocalcemia, Pulmonary edema, Gastritis, Hematuria, Renal insufficien... |
ORPHA:31826 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
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Cachexia |
ORPHA:1144 |