Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Sepsis, D... |
ORPHA:33355 |
Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Hypocholesterolemia, Constrictive perica... |
ORPHA:90363 |
Immunodeficiency 102 |
|
Sepsis, Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific an... |
OMIM:301082 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... |
ORPHA:47 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Sepsis, Hyperammonemia, Renal tubular dysfun... |
ORPHA:289916 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephritis, Iron deficiency... |
ORPHA:37042 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Sepsis, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive |
ORPHA:570422 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
C1Q Deficiency 2 |
|
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect... |
OMIM:620321 |
Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... |
ORPHA:64743 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... |
OMIM:616100 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, Increased circulating IgG... |
ORPHA:443811 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... |
ORPHA:276 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc... |
OMIM:614034 |
Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent respiratory infections, Villous atrophy, Failure to thrive, ... |
OMIM:256500 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... |
ORPHA:47612 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Sepsis, Recurrent infections, Nep... |
ORPHA:79327 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Inc... |
OMIM:617872 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas... |
ORPHA:3032 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, R... |
OMIM:618986 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... |
OMIM:308230 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Thyr... |
ORPHA:39041 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... |
ORPHA:2070 |
Idiopathic Achalasia |
|
Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurrent aspiration... |
ORPHA:930 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... |
ORPHA:480520 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Edema, Increa... |
ORPHA:36234 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Shigellosis |
|
Intestinal perforation, Abnormal blood ion concentration, Uveitis, Dehydration, Paralytic ileus, ... |
ORPHA:810 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... |
OMIM:612840 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... |
ORPHA:331235 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... |
ORPHA:379 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Anal fissure, Perianal abscess, Lymphadeni... |
OMIM:618935 |
Mucopolysaccharidosis-Plus Syndrome |
|
Sepsis, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, Nephritis, He... |
OMIM:617303 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Esophageal stric... |
OMIM:617053 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Recurren... |
ORPHA:2686 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Neonatal sepsis, Fatal liver failure in infancy, Failure to thrive... |
ORPHA:263501 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Splenomeg... |
ORPHA:100025 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
Angioedema, Hereditary, 3 |
|
Facial edema, Angioedema, Intestinal edema, Pharyngeal edema |
OMIM:610618 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegal... |
OMIM:612541 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Sepsis, Cholecystitis, Decreased circulating IgG l... |
ORPHA:183675 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Recur... |
OMIM:619573 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... |
OMIM:266265 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sep... |
ORPHA:36238 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections, Sepsis |
OMIM:618847 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, In... |
OMIM:602450 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weigh... |
OMIM:209950 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Proteinuria, Nodular regene... |
ORPHA:247691 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein... |
ORPHA:90051 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Sepsis,... |
ORPHA:873 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... |
OMIM:615285 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice... |
ORPHA:549 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti... |
ORPHA:398063 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... |
OMIM:618963 |
Acquired Purpura Fulminans |
|
Skin rash, Elevated circulating C-reactive protein concentration, Sepsis, Hepatic failure, Thromb... |
ORPHA:49566 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233710 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Renal insuffic... |
ORPHA:537 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Celiac disease, ... |
ORPHA:199299 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss |
ORPHA:52416 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Pedal edema, Hashimoto ... |
ORPHA:49041 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Recurrent bacterial ... |
ORPHA:101330 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Edema, Increased circulating ferritin concentratio... |
OMIM:603552 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocal... |
ORPHA:90362 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... |
ORPHA:572 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233690 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis |
ORPHA:36237 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Leukocytosis, Sepsis, Recur... |
ORPHA:764 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Facial edema, Abn... |
ORPHA:100050 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... |
OMIM:209920 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein concentration, Edema, Seps... |
ORPHA:178320 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
Necrotizing Enterocolitis |
|
Hyponatremia, Neonatal sepsis, Small for gestational age, Edema, Leukocytosis, Peritonitis, Neutr... |
ORPHA:391673 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Hyperammonemia, Recurrent infections, 3-Methylglutaconic aciduria, Hyperalaninem... |
OMIM:614739 |
Chédiak-Higashi Syndrome |
|
Edema, Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, A... |
ORPHA:167 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema |
OMIM:106100 |
Alg12-Cdg |
|
Edema, Polyhydramnios, Sepsis, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Mic... |
ORPHA:79324 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... |
OMIM:618999 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Edema, Cong... |
ORPHA:77297 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... |
ORPHA:169090 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Renal insuffic... |
ORPHA:36426 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Sepsis, Dehydration, ... |
ORPHA:2552 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Gout, Renal cyst, Recurren... |
OMIM:617056 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal... |
ORPHA:53035 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... |
ORPHA:51636 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu... |
OMIM:274150 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemi... |
OMIM:615863 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor... |
ORPHA:98850 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Mele... |
ORPHA:319218 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Hepatomegaly, Recurrent E. coli infections, Ascites... |
OMIM:306400 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Sepsis, Renal tubular dysfunction, Hyper... |
OMIM:614886 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Inflammation of the ... |
OMIM:301000 |
Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Weight loss, Arthritis, Infecti... |
ORPHA:42642 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Increase... |
ORPHA:100024 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Elevat... |
ORPHA:449400 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Skin rash, Failure to thrive, Elevated circulating C-reactive prot... |
OMIM:616050 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Jaundice, Sepsis,... |
ORPHA:79239 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... |
ORPHA:31202 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Sepsis, Leukopenia, Aminoaciduria, Protein-losing enterop... |
OMIM:619991 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Edema, Renal cyst, Proximal tubulopathy, Hypoal... |
OMIM:602579 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune th... |
ORPHA:293978 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Sepsis, Hyperglycinemia |
OMIM:619059 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Sepsis, Endocarditis, Pl... |
ORPHA:449280 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomega... |
ORPHA:3226 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Leukocytosis,... |
ORPHA:67 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Thrombocytopen... |
ORPHA:505248 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro... |
OMIM:619377 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... |
ORPHA:251004 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti... |
ORPHA:2968 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly,... |
OMIM:619418 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Edema, Patent ductus arteriosus, Elevated circulating creatinine... |
OMIM:608104 |
Meningococcal Meningitis |
|
Renal insufficiency, Skin rash, Elevated circulating C-reactive protein concentration, Sepsis, In... |
ORPHA:33475 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... |
OMIM:607765 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Cleft palate, High palate, Increased blood urea ni... |
OMIM:154230 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria, Recurrent respiratory infections, Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Edema, Abnormal blood ion concentration, Dehydration, Gastrointestinal inflam... |
ORPHA:79404 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Renal insufficiency, Sepsis, Dehydration, Erythroderma, Chronic... |
ORPHA:313 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2902 |
Isolated Congenital Hypoglossia/Aglossia |
|
Cleft palate, Microglossia, Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, N... |
ORPHA:79312 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Edema, Weight loss, Arthritis,... |
ORPHA:3165 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Rec... |
OMIM:214500 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Lassa Fever |
|
Facial edema, Jaundice, Oliguria, Sepsis, Increased circulating IgM level, Conjunctivitis, Dysphagia |
ORPHA:99824 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ... |
ORPHA:829 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Sepsis |
ORPHA:163921 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepato... |
OMIM:619487 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic... |
ORPHA:447 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Recurrent tonsillitis, Hyperk... |
ORPHA:171876 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Elevated circulating C-reactive p... |
OMIM:301074 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Portal hypertension, Hepatic fibrosis, Hypoalbu... |
ORPHA:79319 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Edema of the dorsum of feet, Sepsis, Edema of the dorsum of hands |
ORPHA:544503 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Sepsis, He... |
ORPHA:70475 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Increased proportion of CD25+ mas... |
ORPHA:98848 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Eosinophili... |
ORPHA:400 |
Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Dehydration, Hypercalciuria, Nephroc... |
OMIM:143880 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... |
ORPHA:298 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... |
ORPHA:529808 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Dehydra... |
ORPHA:230 |
Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... |
ORPHA:529799 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Sepsis, Recurrent infections |
ORPHA:204 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphedema, Leuko... |
OMIM:607115 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... |
ORPHA:533 |
Calciphylaxis |
|
Sepsis, Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:614470 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... |
ORPHA:139402 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Sepsis, Decreased circulating antibody level, Recurrent infections, Hy... |
ORPHA:79396 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Polyhydramnios, Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, D... |
OMIM:243150 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... |
OMIM:614162 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insuffici... |
ORPHA:1667 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, Hydrops fetalis, Dehydration, 3-Methylg... |
OMIM:557000 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:171 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:66661 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Villous atrophy, Recurrent respiratory infections, Failure to thrive in infancy, Ecz... |
OMIM:619510 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Esophageal varix, ... |
ORPHA:75233 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... |
ORPHA:2241 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Thrombocytopenia, Pe... |
ORPHA:79242 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
Alg6-Cdg |
|
Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver, Protei... |
ORPHA:79320 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Chylomicron Retention Disease |
|
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL chole... |
OMIM:246700 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Dehydration... |
OMIM:251000 |
Adult Acute Respiratory Distress Syndrome |
|
Pancreatitis, Sepsis, Pneumonia, Pulmonary edema |
ORPHA:70578 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive |
OMIM:613217 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Uveitis, Conjuncti... |
ORPHA:90321 |
Currarino Syndrome |
|
Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Peri... |
OMIM:176450 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia, High palate, Neutropenia, Homocystin... |
OMIM:277380 |
Intestinal Dysmotility Syndrome |
|
Polyhydramnios, Weight loss, Decreased intestinal transit time, High palate, Failure to thrive |
OMIM:620045 |
Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Gastroesop... |
OMIM:223900 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... |
OMIM:613662 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Lymphedema, Malabsorption, Splenomegaly, Furrowed t... |
ORPHA:2930 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-... |
OMIM:175500 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Pedal edema, Weight loss,... |
ORPHA:188 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... |
OMIM:617099 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Colitis, Hypoalbuminemia, Neutropenia, Infectious encephalitis, Hepatomegaly, Maculopapular exant... |
ORPHA:540 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Eleva... |
OMIM:610377 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Cleft palate, Elev... |
ORPHA:79284 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
Central Diabetes Insipidus |
|
Hyponatremia, Dehydration, Weight loss, Failure to thrive, Nocturia |
ORPHA:178029 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Polyhydramnios, Microcolon, Megacystis, Sepsis, Hydronephrosis |
OMIM:619362 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P... |
ORPHA:31204 |
Infant Acute Respiratory Distress Syndrome |
|
Sepsis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci... |
OMIM:214950 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Sepsis, Gastrointestinal inflammat... |
ORPHA:95455 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Increased c... |
ORPHA:85443 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... |
OMIM:116920 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Weight loss, Pleural effusion |
ORPHA:545 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati... |
OMIM:191900 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, He... |
ORPHA:90060 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, T lymphocytopenia, Hemolytic anemia, Psoriasiform de... |
OMIM:606367 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug... |
ORPHA:30391 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Renal insufficiency, Elevated ... |
ORPHA:160 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Inflammation of the large in... |
ORPHA:26790 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:86893 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein con... |
OMIM:612852 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Recurrent aphthous stomatitis... |
OMIM:260570 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Rec... |
OMIM:266600 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Edema, Leukocytosis, ... |
ORPHA:20 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Oliguria, Weight loss, Lymphocytosis, ... |
ORPHA:514 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, High palate, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Ileus, Weight l... |
ORPHA:83469 |
Sarcoidosis |
|
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo... |
ORPHA:797 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
Cryptococcosis |
|
Osteomyelitis, Lymphoid leukemia, Pneumonia, Peritonitis, Sepsis, Cirrhosis, Pleural effusion, Pr... |
ORPHA:1546 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Edema, Leukocytosis, Hyperammonemia, Dehydration, Weight loss, Hyperuric... |
ORPHA:134 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ... |
OMIM:251110 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Celiac disease, Thyroiditis, Weight los... |
OMIM:212750 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Skin rash, Lymphedema, Abnormality of the spleen, Weig... |
ORPHA:33276 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Increased... |
ORPHA:71 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Pericar... |
OMIM:615846 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere... |
OMIM:615387 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car... |
OMIM:232220 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... |
OMIM:601495 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Recurrent candida infections, Gastrointest... |
ORPHA:48435 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... |
OMIM:120100 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Intestinal perforation, Thrombocytopenia, Peritonitis, Leu... |
ORPHA:90038 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Splenomegaly, Increased circulating ferrit... |
ORPHA:465508 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Medullary Thyroid Carcinoma |
|
Weight loss, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... |
ORPHA:723 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Intestinal obstruc... |
ORPHA:183 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai... |
OMIM:615816 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... |
ORPHA:767 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Weight loss, Failure to... |
ORPHA:1842 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... |
OMIM:260400 |
Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis, Weight loss |
ORPHA:1164 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Skin rash, Pneumonia, Proteinuria, Increased circulating IgA level, Abnorm... |
ORPHA:2298 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Eosinophilia, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Q Fever |
|
Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa... |
ORPHA:781 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Myositis, Pericarditis, Hepatomegaly, Cachexia, Malabs... |
ORPHA:3452 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Chronic hepatitis... |
OMIM:614602 |
Pleural Mesothelioma |
|
Hepatomegaly, Pleural effusion, Weight loss, Dysphagia |
ORPHA:50251 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... |
OMIM:615237 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,... |
ORPHA:90291 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, Cleft palate... |
OMIM:235255 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... |
ORPHA:293173 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Recurrent... |
ORPHA:158668 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus, Pedal edema, Weight loss, Ascites |
ORPHA:168811 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Nephrolithiasis, Weigh... |
OMIM:617321 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Acute kid... |
OMIM:618886 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Periorbital edema, Granulomatos... |
ORPHA:900 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Intestinal malrotation, Polyhydramnios, Asplenia, Patent ductus arteriosus, ... |
ORPHA:99776 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... |
ORPHA:35710 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, A... |
ORPHA:79076 |
Takayasu Arteritis |
|
Increased inflammatory response, Weight loss, Arthritis, Gastrointestinal infarctions, Inflammato... |
ORPHA:3287 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Recurrent upp... |
OMIM:618183 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Hypercalciuria, Macroglossi... |
OMIM:618440 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Neutropenia, St... |
ORPHA:520 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Neonatal sepsis, Pneumonia, Jaundice, Hyperkalemia, Failure to thrive |
ORPHA:90790 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Viral hepatitis, Pericarditis, Membranoproliferative g... |
ORPHA:91139 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... |
ORPHA:93941 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Recurrent infe... |
OMIM:301078 |
Plague |
|
Glossitis, Chapped lip, Hepatomegaly, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Splenome... |
ORPHA:707 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Eso... |
OMIM:619079 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Neonatal sepsis, Hydronephrosis |
OMIM:619217 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:613291 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Esophageal stenosis, Proteinuria, Hypoperistalsis, Keratitis, E... |
ORPHA:1018 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Edema, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Skin rash... |
ORPHA:50918 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Tubuloi... |
ORPHA:91500 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Erythroderma, Failure to t... |
OMIM:614328 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Gastrointestinal dysmotility, Pedal edema, Weight... |
ORPHA:330001 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephaliti... |
ORPHA:391487 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Rheumatoid Arthritis |
|
Joint swelling, Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weig... |
OMIM:180300 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hepatoblastoma, Chronic pancr... |
OMIM:232240 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Diaphanospondylodysostosis |
|
Increased nuchal translucency, Cleft palate, Horseshoe kidney, Abnormal liver lobulation, Cystic ... |
OMIM:608022 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, High... |
ORPHA:1655 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Osteomyelitis, Malabsorption, Sepsis, Bladder diverticulum, Prolonge... |
ORPHA:565 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Increased mean platelet volu... |
ORPHA:84064 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Increased circulating IgA level, Pyloric stenosis, Recurrent infe... |
OMIM:616395 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Urin... |
ORPHA:2126 |
Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Recurrent pancreat... |
ORPHA:676 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology, Cleft palate |
ORPHA:398189 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hy... |
OMIM:222470 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Functional intestinal obstruction, Inte... |
ORPHA:1333 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... |
ORPHA:96180 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Skin... |
ORPHA:97280 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Abetalipoproteinemia |
|
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi... |
OMIM:603041 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Malabsorption, Intrahepatic cholestasis, D... |
ORPHA:97282 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Edema, Gast... |
ORPHA:100078 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Elevated ... |
ORPHA:319213 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease... |
ORPHA:95409 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... |
ORPHA:97283 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Renal salt wasting, Celiac disease, Thiamine-resp... |
ORPHA:85138 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respiratory infections, Failure to thr... |
OMIM:618278 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Oral-phar... |
ORPHA:399 |
Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recu... |
ORPHA:420741 |
Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss |
ORPHA:160148 |
Chronic Beryllium Disease |
|
Weight loss, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
Bullous Pemphigoid |
|
Weight loss, Psoriasiform dermatitis, Eczema, Recurrent infections |
ORPHA:703 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss, Recurrent infections |
ORPHA:704 |
Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Phimosis, Patent ductus arteriosus, Sepsis, Cleft palate, Recurrent in... |
ORPHA:363611 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatome... |
ORPHA:14 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... |
ORPHA:440437 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Idiopathic Bronchiectasis |
|
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... |
ORPHA:60033 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... |
OMIM:219800 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Urachal Cyst |
|
Abscess, Elevated circulating C-reactive protein concentration, Pyuria, Dysuria, Leukocytosis, Pe... |
ORPHA:488 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Palpebral e... |
ORPHA:99843 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypocalcemia, Cachexia |
ORPHA:1438 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Rectal prolapse, ... |
OMIM:235510 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Patent ductus arteriosus, Hydrops fetalis, Hepato... |
ORPHA:354 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Renpenning Syndrome |
|
Hypospadias, Cachexia, High, narrow palate, Cleft palate, Anal atresia |
ORPHA:3242 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Weight loss |
ORPHA:654 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He... |
ORPHA:85408 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarcti... |
OMIM:603903 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Juvenile Dermatomyositis |
|
Calcinosis, Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Elevated circulating ... |
ORPHA:93672 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Edema, Intestinal perforation, Gastrointestinal infarctions, Hypocalcemia, Nephrotic rang... |
ORPHA:544482 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Odynophagia, Uveitis, Dehydration, Leukopenia... |
ORPHA:99826 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating creatine kinase concentration, ... |
ORPHA:99829 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Colitis, Neutrophilia, Leukocytosis, Angioedema, Chronic hepatitis, Hepatosplenomega... |
ORPHA:3260 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Aredyld Syndrome |
|
Splenomegaly, Abnormality of the ureter, Cachexia, Hepatomegaly |
ORPHA:1133 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... |
ORPHA:97278 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Ileus, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... |
ORPHA:679 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis |
OMIM:190440 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumat... |
ORPHA:79128 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Hypercalcemia, Renal hamartoma, Nep... |
ORPHA:143 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Recurrent inf... |
ORPHA:361 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u... |
ORPHA:913 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... |
ORPHA:73263 |
Loeffler Endocarditis |
|
Pericarditis, Eosinophilia, Weight loss |
ORPHA:75566 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg... |
ORPHA:729 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Weight loss, Jo... |
ORPHA:35687 |
Christianson Syndrome |
|
Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Renal... |
ORPHA:117 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Sepsis |
ORPHA:505395 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Proteinuria, Cachexia, Hyp... |
OMIM:610965 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Weight loss |
ORPHA:97289 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... |
ORPHA:31826 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Decreased glomerular fi... |
ORPHA:340 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Bronchiectasis, Weight loss |
ORPHA:411703 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Acrodermatitis Enteropathica |
|
Glossitis, Malabsorption, Pustule, Cheilitis, Furrowed tongue, Weight loss, Conjunctivitis, Failu... |
ORPHA:37 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Pericardial effusion, Iridocyclitis... |
OMIM:181000 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, E... |
ORPHA:99921 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exo... |
ORPHA:309031 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, D... |
ORPHA:31824 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... |
ORPHA:97261 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... |
ORPHA:210122 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss |
ORPHA:3208 |
Klatskin Tumor |
|
Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Leukocytosis, Renal hypoplasia, Abdominal obesity, Azo... |
OMIM:619321 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... |
ORPHA:99827 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter... |
OMIM:611376 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Fac... |
ORPHA:79078 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Hypospadias, Aplasia/Hypoplasia of the uvula, ... |
ORPHA:84 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Recurrent pharyngitis, Weight loss, Hematuria, Arthritis, Gast... |
ORPHA:397 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Cachexia, Proteinuria, Polyhydramnios |
ORPHA:2774 |
Poems Syndrome |
|
Edema, Pericardial effusion, Weight loss, Increased circulating antibody level, Thrombocytosis, P... |
ORPHA:2905 |
Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Weight loss... |
ORPHA:29207 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Weight loss |
ORPHA:2221 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... |
OMIM:115470 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Recurrent sinopulmonary infections,... |
ORPHA:647 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia, Dysphagia |
ORPHA:216866 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Proteinuria, Lymphedema, Pericardial effusion, Reduc... |
ORPHA:79318 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Weight loss, Melena, Iron deficiency an... |
ORPHA:100075 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Calcium nephrolithiasis, Abnormal circulating calcium concentration, Bronchiectasis... |
ORPHA:60025 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... |
OMIM:608710 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Failure to thrive, High palate, Pneumonia |
ORPHA:2135 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Polyhydramnios, Pancreatitis, Megacystis, H... |
OMIM:155310 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Polyhydramnios, Narrow palate, Gastroesophageal reflux, High palate |
OMIM:618186 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Malabsorption, Weight loss, Neutropenia |
ORPHA:79430 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci... |
OMIM:104200 |
Microvillus Inclusion Disease |
|
Villous atrophy, Dehydration, Nephrocalcinosis, Abnormal small intestinal villus morphology, Abno... |
ORPHA:2290 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Polyhydramnios, Lymphedema |
OMIM:618154 |
Fatal Familial Insomnia |
|
Weight loss, Urinary retention, Dysphagia |
OMIM:600072 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Proteinuria, Edema, Myocarditis, Leukocytosis, Jaundice, Recurrent phary... |
ORPHA:2331 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... |
ORPHA:1501 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of the ureter... |
ORPHA:1666 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Hep... |
OMIM:311900 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Oligohydramnios |
ORPHA:139466 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia, D-2-hydrox... |
ORPHA:99646 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia |
ORPHA:71273 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Tarp Syndrome |
|
Failure to thrive, Extramedullary hematopoiesis, Cleft palate, Horseshoe kidney, Glossoptosis, Ab... |
ORPHA:2886 |
Malt Lymphoma |
|
Recurrent respiratory infections, Posterior uveitis, Anemia, Weight loss |
ORPHA:52417 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss, Intestinal pseudo-obstruction, Mildly elevated creatine kinase, Dysphagia |
OMIM:607459 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Hepatomegaly, Weight loss, Elevated hepatic transaminase |
ORPHA:100080 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Obesity, Weight loss, High palate |
ORPHA:251071 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Hematochezia, Melena |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Hematochezia, Melena |
ORPHA:100082 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Hypospadias, Cachexia |
ORPHA:217346 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Edema, Periorbita... |
ORPHA:221 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,... |
ORPHA:3132 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Eosinophilia, Seborrheic dermatitis, Edema of ... |
OMIM:274000 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Hepatic failure, Pneumonia, Weight loss |
ORPHA:97287 |
Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Gastroesophageal reflux |
ORPHA:813 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios, Intestinal malrotation, Aspl... |
OMIM:265380 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, P... |
OMIM:229850 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Increased urinary cortisol level, Pancreatic adenocarcin... |
ORPHA:99889 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... |
ORPHA:512 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Moderate albuminuria, Dehydration, Weight loss, Renal tubular dysfu... |
ORPHA:99885 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, High palate, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:164310 |
Infantile Krabbe Disease |
|
Failure to thrive, Gastroesophageal reflux, Cachexia, Recurrent infections |
ORPHA:206436 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var... |
ORPHA:2072 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Abnormal large intestine morphology, Lymphedema, Cachexia, Narrow palate, H... |
ORPHA:109 |
Congenital Tracheal Stenosis |
|
Fetal ascites, Polyhydramnios, Abnormal stomach morphology, Patent ductus arteriosus, Abnormality... |
ORPHA:141127 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Otitis media, Ol... |
ORPHA:576 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, High palate, Obesity, Cachexia |
ORPHA:85293 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
ORPHA:2388 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Duodenal ulcer, Hypercalcemia, Peptic ulcer, Hematemesis, Insulinoma, N... |
ORPHA:652 |
Glossopharyngeal Neuralgia |
|
Odynophagia, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... |
ORPHA:191 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal ... |
ORPHA:2847 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Polyhydramnios, Cachexia, Abnormality of the ... |
ORPHA:800 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Acne, Renal salt wasting, Long penis, Hyperkalemia, Dehydration, Elevated urinary e... |
ORPHA:90794 |
Trisomy 18 |
|
Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Hydronephrosis, Anal atresia, Oligohyd... |
ORPHA:3380 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Spastic/hyperactive bladder, Dysphagia |
ORPHA:411602 |
Rett Syndrome |
|
Gastroesophageal reflux, Cachexia |
OMIM:312750 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Polyhydramnios, Weight loss, High palate, Aspiration pneumonia,... |
ORPHA:2020 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemi... |
ORPHA:75565 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Hypospadias, Small for gestational age, Patent ductus ... |
ORPHA:1708 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Slender build, Anemia |
ORPHA:1328 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pyloric stenosis, Recurrent pneumonia, Pyelonephritis, Urethr... |
ORPHA:90349 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Keratitis, Myocarditis, Sp... |
ORPHA:3385 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrom... |
OMIM:601776 |
Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, High, narrow palate, Increased circulating IgG level, High pal... |
OMIM:619472 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia, Cleft palate, Micropenis, Abn... |
OMIM:219000 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Hypokalemia, Weight loss |
ORPHA:91347 |
Stickler Syndrome |
|
Recurrent respiratory infections, Slender build, Cachexia, Osteoarthritis, Uveitis, Cleft palate,... |
ORPHA:828 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia |
ORPHA:1969 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Lymphedema, Splenomegaly, Long penis, Renal cyst, Recurrent infections |
ORPHA:744 |
Marfan Syndrome |
|
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build |
ORPHA:558 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia |
ORPHA:740 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, High, narrow palate, Pylori... |
ORPHA:261330 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |