Maturity-Onset Diabetes Of The Young, Type 2 |
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Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
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Type I diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 9 |
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Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 4 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
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Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 7 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
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Type I diabetes mellitus |
OMIM:612520 |
Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Type 1 Diabetes Mellitus 6 |
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Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
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Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
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Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Type 2 Diabetes Mellitus |
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Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Acute Disseminated Encephalomyelitis |
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Viral hepatitis, Hypointensity of cerebral white matter on MRI, Disseminated viral infection, Sev... |
ORPHA:83597 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Recurrent urinary tract infections, Sinusitis, Short stature, Decreased response to growth hormon... |
OMIM:307200 |
Citrullinemia, Type Ii, Adult-Onset |
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Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
L-2-Hydroxyglutaric Aciduria |
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Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis |
ORPHA:79314 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Hepatomegaly, Hypospadias, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:1194 |
Immunodeficiency 31A |
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Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
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Intrauterine growth retardation, Viral encephalitis |
OMIM:619441 |
Bare Lymphocyte Syndrome, Type Ii |
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Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
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Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures |
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Cerebellar vermis hypoplasia, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Recurrent ... |
OMIM:619876 |
Zika Virus Disease |
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Maculopapular exanthema, Skin rash, Edema, Microcephaly, Meningitis, Congenital intracerebral cal... |
ORPHA:448237 |
Immunodeficiency 31B |
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Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Fulminant hepatitis, Meningitis, Re... |
OMIM:308240 |
Complement Component 4B Deficiency |
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Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
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Herpes simplex encephalitis |
OMIM:616532 |
Immunodeficiency 37 |
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Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
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Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Pfapa Syndrome |
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Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Arthritis, Infectious encephalitis |
ORPHA:42642 |
Complement Component C1S Deficiency |
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Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
Congenital Enterovirus Infection |
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Skin rash, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Meningitis, Hydrops ... |
ORPHA:292 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cerebral edema |
OMIM:201450 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
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Pneumonia, Cerebral edema |
OMIM:608033 |
C1Q Deficiency 3 |
|
Discoid lupus rash, Recurrent bacterial meningitis |
OMIM:620322 |
Aspergillosis |
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Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Meningitis, Unusual CNS infection, Bronchiectasis... |
ORPHA:1163 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Hepatosplenomegaly, Recurrent ... |
OMIM:618982 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Hepatomegaly, Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum... |
OMIM:300635 |
Citrullinemia Type Ii |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed ... |
ORPHA:247585 |
Cerebral Visual Impairment |
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Microcephaly, Meningitis, Hydrocephalus, Unusual CNS infection, Abnormal cerebral white matter mo... |
ORPHA:447788 |
Complement Component 8 Deficiency, Type Ii |
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Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Angioedema... |
ORPHA:139402 |
Hepatocellular Carcinoma |
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Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Glioblastoma |
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Abnormal cerebral white matter morphology, Cerebral edema, Abnormal corpus callosum morphology |
ORPHA:360 |
Kcnq2-Related Epileptic Encephalopathy |
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Abnormal globus pallidus morphology, Cerebral atrophy, Abnormal cerebral white matter morphology,... |
ORPHA:439218 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Cerebellar edema, Cerebral white matter atrophy, Myelopathy, Leukoencephalopathy, Cervical myelop... |
OMIM:617186 |
Microsporidiosis |
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Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
New-Onset Refractory Status Epilepticus |
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Focal T2 hyperintense basal ganglia lesion, Cerebellar edema, Abnormal basal ganglia MRI signal i... |
ORPHA:363558 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Subacute Sclerosing Panencephalitis |
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Infectious encephalitis |
OMIM:260470 |
Cryptococcosis |
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Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Hydrocephalus, Cirrhosis, Pleural effusion, Pr... |
ORPHA:1546 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
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Herpes simplex encephalitis |
OMIM:614849 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
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Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Cerebral edema |
OMIM:611126 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Abnormal cerebral white matter morphology, Hashimoto thyroiditis, Cerebral edema, Goiter |
ORPHA:83601 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Edema, Osteomyelitis, Skin rash, Glomerulonephritis, R... |
ORPHA:36234 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
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Growth delay, Cerebral edema, Cerebral atrophy, Microcephaly |
OMIM:614462 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Cerebral edema, Oli... |
OMIM:617713 |
Japanese Encephalitis |
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Abnormal substantia nigra morphology, Paucity of anterior horn motor neurons, Meningitis, Abnorma... |
ORPHA:79139 |
Wilson Disease |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Complement Component 8 Deficiency, Type I |
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Meningitis |
OMIM:613790 |
Lymphoproliferative Syndrome 2 |
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Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent pneumonia, EBV encephali... |
OMIM:615122 |
Migraine, Familial Hemiplegic, 2 |
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Cerebellar atrophy, Cerebral edema |
OMIM:602481 |
Amoebiasis Due To Free-Living Amoebae |
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Unusual skin infection, Abnormal medulla oblongata morphology, Sinusitis, Pneumonia, Pustule, Abn... |
ORPHA:68 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4 |
|
Cerebral edema |
OMIM:614212 |
Lyme Disease |
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Uveitis, Joint swelling, Arthritis, Meningitis, Infectious encephalitis |
ORPHA:91546 |
Neurocutaneous Melanocytosis |
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Meningocele, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis, ... |
ORPHA:2481 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... |
OMIM:300755 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Maple Syrup Urine Disease |
|
Pancreatitis, Cerebral edema |
OMIM:248600 |
Lujo Hemorrhagic Fever |
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Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Facial edema, Periorbital edem... |
ORPHA:319213 |
Reynolds Syndrome |
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Hepatomegaly, Skin rash, Jaundice, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, ... |
ORPHA:779 |
Avian Influenza |
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Elevated hepatic transaminase, Pneumonia, Meningitis, Hepatitis, Conjunctivitis, Increased circul... |
ORPHA:454836 |
Whipple Disease |
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Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Myocarditis, Hydrocephalus, Uveitis, Pedal ed... |
ORPHA:3452 |
Congenital Disorder Of Glycosylation, Type Iih |
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Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Microcephaly, ... |
OMIM:611182 |
Familial Hemophagocytic Lymphohistiocytosis |
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Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... |
ORPHA:540 |
American Trypanosomiasis |
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Hepatomegaly, Skin rash, Edema, Periorbital edema, Splenomegaly, Myocarditis, Infectious encephal... |
ORPHA:3386 |
Q Fever |
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Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase... |
ORPHA:99901 |
Dural Sinus Malformation |
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Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Hypoplasia of the frontal lobes, Cereb... |
ORPHA:97339 |
Nipah Virus Disease |
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Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
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Elevated hepatic transaminase, Intrauterine growth retardation, Hepatic failure, Cerebral edema |
OMIM:619355 |
Angiostrongyliasis |
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Unusual CNS infection, Meningitis, Cerebral edema |
ORPHA:74 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Alpha-1-Antitrypsin Deficiency |
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Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Typhoid |
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Skin rash, Hepatomegaly, Infectious encephalitis, Splenomegaly |
ORPHA:99745 |
Gm1 Gangliosidosis |
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Recurrent respiratory infections, Short stature, Splenomegaly, Hydrops fetalis, Hepatosplenomegal... |
ORPHA:354 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Hepatomegaly, Hypospadias, Microcephaly, Splenomegaly, Focal T2 hypointense b... |
OMIM:252010 |
Dietary Iron Overload Disease |
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Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Chronic infection, Micronodular cirrhosi... |
ORPHA:139507 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis... |
ORPHA:549 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Meningitis, Infectious encephalitis |
ORPHA:83317 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Edema, Splenomegaly, Jaundice, Meningitis... |
OMIM:603553 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent ... |
ORPHA:169160 |
Familial Or Sporadic Hemiplegic Migraine |
|
Cerebellar atrophy, Cerebral edema |
ORPHA:569 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Liver abscess, Unusual skin infection, Pneumonia, Abnormality ... |
ORPHA:31202 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Abnormal cerebral white matter morphology, Skin rash, Cerebral edema, Cerebral atrophy |
OMIM:618321 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Gonadal calcificatio... |
ORPHA:314478 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Hydrocephalus, Hepatitis, Ped... |
ORPHA:381 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... |
ORPHA:829 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Recurrent bacte... |
OMIM:308230 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Cerebral edema |
OMIM:237300 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Cerebral edema |
ORPHA:88619 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... |
ORPHA:2137 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Pontocerebellar atrophy, Lissencephaly, Recurrent lower respiratory tract infections, P... |
ORPHA:258 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Short stature, Recurrent urinary tract infections, Micr... |
ORPHA:847 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Osteomyelitis, Skin rash, Recurr... |
ORPHA:47 |
Listeriosis |
|
Liver abscess, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis, Brain abscess,... |
ORPHA:533 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Pulmonary tuberculosis, Cholecys... |
ORPHA:183675 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Recurrent urinary tract infections, Recurrent respiratory infections, Skin rash, Che... |
ORPHA:1334 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... |
ORPHA:83471 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Ischemic stroke, Cerebral edema, Leukoencephalopathy |
ORPHA:284388 |
Hartnup Disease |
|
Skin rash, Short stature, Infectious encephalitis |
ORPHA:2116 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Meningitis, Infectious encephalitis, Generalized edema |
OMIM:267700 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Secondary microcephaly, Hepatitis |
ORPHA:363523 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Pleural effusion, Ascites, ... |
ORPHA:314473 |
Herpes Simplex Virus Encephalitis |
|
Cerebral edema |
ORPHA:1930 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Cholelithiasis |
ORPHA:848 |
Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P... |
ORPHA:31204 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Inflammatory abnormality of the skin, Recurrent herpes, Short s... |
ORPHA:391487 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Short stature, Megalencephaly, Cryptorchidism, Abnormality of the Leydig cells, Test... |
ORPHA:3063 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Nephritis, Infectio... |
ORPHA:73263 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Severe viral infection, Hepatitis, Uveitis, M... |
ORPHA:319251 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal growth retardation, ... |
ORPHA:440713 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Ce... |
OMIM:207900 |
Citrullinemia, Classic |
|
Hepatomegaly, Cirrhosis, Cerebral edema |
OMIM:215700 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... |
ORPHA:79095 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Meningococcal Meningitis |
|
Skin rash, Infectious encephalitis |
ORPHA:33475 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:311250 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Abnormality of the liver, Infectious encephalitis, Hepatomega... |
ORPHA:1304 |
Alexander Disease |
|
Cerebral calcification, Megalencephaly, Precocious puberty, Aqueductal stenosis, Hydrocephalus, A... |
ORPHA:58 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Edema, Orchitis, Pustule, Angioedema, Arthritis, Infectious encephalitis |
ORPHA:761 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... |
OMIM:614921 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Ethylene Glycol Poisoning |
|
Gastritis, Cerebral edema, Pulmonary edema |
ORPHA:31826 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Microcephaly, Hepatic melanin-like lysosomal... |
OMIM:208085 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Short stature, Recurrent skin infections, Herpes simplex encephalitis, Recurrent up... |
OMIM:233600 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... |
ORPHA:572 |
Incontinentia Pigmenti |
|
Short stature, Skin rash, Supernumerary nipple, Keratitis, Uveitis, Spina bifida occulta, Infecti... |
ORPHA:464 |
Satoyoshi Syndrome |
|
Short stature, Microcephaly, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of th... |
ORPHA:3130 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... |
ORPHA:562 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Cerebral cortical atrophy, Decreased liver function, Hepatomegaly |
OMIM:238970 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Hepatic failure, Biliary cirrhosis, Hepatitis, Gastrointestinal in... |
ORPHA:186 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Basal ganglia calcification, Hepatic steatosis, Hepatomegaly, Intracer... |
OMIM:615846 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... |
OMIM:203800 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... |
ORPHA:90062 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Microcephaly, Jaundice, Choles... |
OMIM:613404 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Chronic hepatitis, Colitis, Cirrhosis, Intrauterine growth retardation |
OMIM:614602 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... |
ORPHA:171 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Acne, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Ab... |
ORPHA:247768 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Premature ... |
OMIM:240300 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoriasiform dermatitis, Hepatitis, ... |
ORPHA:37042 |
Poliomyelitis |
|
Meningitis, Infectious encephalitis, Myelitis |
ORPHA:2912 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, ... |
OMIM:240500 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... |
ORPHA:101330 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... |
OMIM:601457 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Spondyloenchondrodysplasia |
|
Cerebral calcification, Short stature, Decreased response to growth hormone stimulation test, Pne... |
ORPHA:1855 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature... |
ORPHA:229717 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Crusting erythematous dermati... |
ORPHA:324625 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Recurrent respiratory infections, Short stature, Portal hypertension, Hypersplenism... |
OMIM:613385 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Pleural effusion, Meningitis |
ORPHA:545 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Increased circu... |
ORPHA:543 |
Immunodeficiency 66 |
|
Pustule, Meningitis, Recurrent skin infections |
OMIM:618847 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Ascites |
ORPHA:584 |
Neonatal Alloimmune Neutropenia |
|
Severe infection, Jaundice, Meningitis, Pneumonia |
ORPHA:464370 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... |
ORPHA:48435 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic tinea infection, Chronic oral candidiasis, Onychomycosis, Deep dermatophytosis, Meningitis |
OMIM:212050 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Xerostomia, Biliary cirrhosis,... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,... |
ORPHA:227982 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic infe... |
ORPHA:231226 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Severe infection, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Hypoplas... |
OMIM:300400 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Recurr... |
OMIM:610199 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... |
ORPHA:228426 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Conjunctivitis, Otitis media, ... |
ORPHA:3392 |
Cinca Syndrome |
|
Skin rash, Lymphedema, Uveitis, Hepatosplenomegaly, Growth delay, Arthritis, Meningitis |
OMIM:607115 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Polyhydramnios, Enterocolitis, Hypopla... |
OMIM:243150 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... |
ORPHA:91138 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Wilson Disease |
|
Hypoparathyroidism, Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Cysticercosis |
|
Iridocyclitis, Cerebral calcification, Infectious encephalitis, Posterior fossa cyst at the fourt... |
ORPHA:1560 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Edema, Myocarditis, Jaundice, Recurrent pharyngitis, Hepatitis, Cheiliti... |
ORPHA:2331 |
Immunodeficiency 46 |
|
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Short stature, Decreased response to growth hormone stimulation te... |
ORPHA:293987 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Premature ovarian insufficiency, Pituitary adenoma, Adrenocorticotropic hormo... |
ORPHA:199299 |
Gorham-Stout Disease |
|
Osteomyelitis, Elevated alkaline phosphatase of bone origin, Edema, Chiari type I malformation, P... |
ORPHA:73 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Recurrent abscess f... |
ORPHA:436252 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the ... |
ORPHA:722 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Pericardial effusion, Splenomegaly, Angioedema, Meningitis... |
ORPHA:36412 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... |
OMIM:269200 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hypersplenism, Sple... |
ORPHA:3261 |
Fusariosis |
|
Brain abscess, Myositis, Sinusitis, Fasciitis, Maculopapular exanthema, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Meningitis, Recurrent sinusitis |
OMIM:619707 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Multifocal cerebral white matter abnormal... |
ORPHA:415 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Meningitis, Oligozoospermia, Hypogo... |
ORPHA:91351 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Myasthenia Gravis |
|
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis |
ORPHA:589 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abnormality of the male g... |
ORPHA:228123 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie... |
OMIM:619381 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Short stature, Splenomegaly, Enterocolitis, Meningitis |
OMIM:616050 |
Cinca Syndrome |
|
Hepatomegaly, Edema, Retrobulbar optic neuritis, Splenomegaly, Meningitis, Uveitis, Growth delay,... |
ORPHA:1451 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... |
ORPHA:3260 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... |
ORPHA:70593 |
Gaucher Disease |
|
Hepatomegaly, Osteomyelitis, Short stature, Splenomegaly, Osteoarthritis, Hydrocephalus, Hydrops ... |
ORPHA:355 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infect... |
ORPHA:169090 |
Adenohypophysitis |
|
Chronic lymphocytic meningitis, Decreased female libido, Reduced circulating prolactin concentrat... |
ORPHA:95512 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser... |
ORPHA:509 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites |
OMIM:215600 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... |
ORPHA:2968 |
Panhypophysitis |
|
Chronic lymphocytic meningitis, Decreased female libido, Reduced circulating prolactin concentrat... |
ORPHA:95513 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis |
ORPHA:91139 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Myocarditis, Xerostomia... |
ORPHA:809 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Splenomegaly, M... |
ORPHA:379 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonit... |
ORPHA:342 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Meningitis, Arthritis, Crohn's d... |
OMIM:249100 |
Arachnoiditis |
|
Hydrocephalus, Meningitis |
ORPHA:137817 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis |
OMIM:612260 |
Sheehan Syndrome |
|
Dyspareunia, Chronic lymphocytic meningitis, Decreased female libido, Reduced circulating prolact... |
ORPHA:91355 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Cerebral calcification, Jaundice, Hepatitis, Cholestasis, Eso... |
ORPHA:198 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Lymphedema, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,... |
ORPHA:99413 |
Turner Syndrome |
|
Lymphedema, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,... |
ORPHA:881 |
Mosaic Monosomy X |
|
Lymphedema, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,... |
ORPHA:99228 |
Monosomy X |
|
Lymphedema, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,... |
ORPHA:99226 |
Sepsis In Premature Infants |
|
Hepatomegaly, Disseminated viral infection, Edema, Splenomegaly, Jaundice, Severe infection, Ente... |
ORPHA:90051 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Abnormal ovarian morphology, Micropenis, Abnormal extern... |
ORPHA:95699 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... |
ORPHA:64 |
Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Abnormality of the ovary, Hypogonadism, Vaginal atresia, Hepatic fibro... |
OMIM:209900 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Short stature, ... |
ORPHA:99843 |
Hydranencephaly |
|
Postnatal growth retardation, Primary microcephaly, Intrauterine growth retardation, Meningitis, ... |
ORPHA:2177 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Pedal edema, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Meningitis... |
ORPHA:449395 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Abnormal medulla oblongata morphology, Unusual CNS infection, Meni... |
ORPHA:297 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hydromyelia, Meni... |
OMIM:600145 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Recurrent respiratory infect... |
ORPHA:900 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratiti... |
ORPHA:906 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Pneumonia, Edema, Myocarditis, Severe infection, Severe viral infection, Pleural e... |
ORPHA:544482 |
Giant Cell Arteritis |
|
Pericarditis, Recurrent pharyngitis, Arthritis, Hepatic failure, Meningitis |
ORPHA:397 |
Trichinellosis |
|
Skin rash, Edema, Facial edema, Periorbital edema, Conjunctivitis, Meningitis |
ORPHA:863 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Palpebral edema, Skin rash, Pustule, Splenomegaly, M... |
ORPHA:50918 |
Progressive Multifocal Leukoencephalopathy |
|
Meningitis |
ORPHA:217260 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Meningitis, Recurrent pneumonia, Recurrent infections, Inflammation of the large intes... |
OMIM:617718 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... |
OMIM:600802 |
Galactosemia I |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:230400 |
Plague |
|
Chapped lip, Hepatomegaly, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Splenomegaly, Menin... |
ORPHA:707 |
Acute Transverse Myelitis |
|
Invasive parasitic infection, Extrapulmonary tuberculosis, Priapism, Severe viral infection, Diss... |
ORPHA:139417 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Eczema, Recurrent pneumonia, Recurrent upper respiratory tract infections, Ulce... |
OMIM:301000 |