| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Short stature, Lipodystr... |
OMIM:612526 |
| Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly |
ORPHA:2398 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... |
ORPHA:79084 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis |
OMIM:246650 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
| Histiocytosis, Familial Lipochrome |
|
Polyarticular arthritis, Increased circulating antibody level |
OMIM:235900 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
OMIM:610717 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:619220 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re... |
OMIM:610163 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... |
OMIM:615381 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Fever, Lipodystrophy, Hepatosplenomegaly, Growth delay, Cholestatic liver disease, Hepatic fibros... |
OMIM:619858 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia |
OMIM:619773 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertriglyceridem... |
ORPHA:528 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Lipoatrophy |
ORPHA:79087 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... |
ORPHA:2348 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... |
OMIM:615513 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... |
OMIM:618534 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Short stature, Hypoglycemia |
ORPHA:366 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Hypertension |
ORPHA:1879 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... |
ORPHA:79083 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... |
OMIM:601859 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Re... |
ORPHA:324575 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
| Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia |
OMIM:608320 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hypoglycemia, Hepa... |
ORPHA:369 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... |
OMIM:608709 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Hepatom... |
ORPHA:280365 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... |
OMIM:618982 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating... |
ORPHA:71212 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... |
OMIM:613493 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... |
OMIM:300310 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level,... |
ORPHA:98813 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... |
ORPHA:300536 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Increased C-peptide level, Hyperinsulinemia... |
ORPHA:276575 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W... |
ORPHA:1979 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, Increased circulat... |
ORPHA:397596 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hypergly... |
ORPHA:329249 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... |
OMIM:613502 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Increased C-peptide leve... |
ORPHA:276580 |
| Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90160 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Failure to thrive, Small for gestational age, Slender build, Generalized lipodystrophy |
ORPHA:50811 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:232400 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Primary amenorrhea, Delayed thel... |
OMIM:616033 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy, Cardiac shunt |
OMIM:305800 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He... |
OMIM:248370 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... |
OMIM:613913 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media |
OMIM:312863 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Vasculitis in the ... |
ORPHA:90159 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:251880 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Cry... |
OMIM:130650 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... |
OMIM:619707 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
| Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90157 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevate... |
OMIM:245400 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:603552 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Increased C-peptide ... |
ORPHA:276556 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
| Schnitzler Syndrome |
|
Increased circulating IgM level, Increased bone mineral density, Skin rash, Arthritis |
ORPHA:37748 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Pancreatic ... |
OMIM:246200 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... |
OMIM:603909 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia |
OMIM:615026 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Lipoatrophy, Hepatic hemangioma |
ORPHA:141184 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglu... |
OMIM:618459 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... |
OMIM:617591 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... |
OMIM:612692 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... |
OMIM:619048 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... |
OMIM:613500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, He... |
OMIM:308230 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Increased circulating IgG... |
OMIM:209950 |
| Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... |
OMIM:300400 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Splen... |
OMIM:607616 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:608594 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:300635 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentrati... |
OMIM:617872 |
| Aredyld Syndrome |
|
Hepatomegaly, Short stature, Abnormal dental enamel morphology, Lipoatrophy, Cachexia, Splenomega... |
ORPHA:1133 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Increased circulat... |
OMIM:618495 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Antinuclear an... |
OMIM:618048 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
| Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Hype... |
ORPHA:79237 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... |
OMIM:269700 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Stiff Skin Syndrome |
|
Lipoatrophy, Abnormal circulating lipid concentration, Short stature, Type II diabetes mellitus |
ORPHA:2833 |
| Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea... |
ORPHA:2849 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Elevated cir... |
ORPHA:275555 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... |
ORPHA:276608 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Hypertriglyceridemia |
OMIM:618010 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, P... |
ORPHA:2089 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Intrauterine growth retar... |
ORPHA:26792 |
| Temple Syndrome |
|
Hypertriglyceridemia, Short stature, Small for gestational age, Maturity-onset diabetes of the yo... |
OMIM:616222 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... |
OMIM:278000 |
| Stiff Skin Syndrome |
|
Elbow flexion contracture, Lipodystrophy, Camptodactyly, Knee flexion contracture |
OMIM:184900 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... |
OMIM:222100 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... |
ORPHA:2088 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... |
OMIM:301033 |
| Central Diabetes Insipidus |
|
Hyponatremia, Fever, Anorexia, Weight loss, Polydipsia, Failure to thrive |
ORPHA:178029 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... |
OMIM:615767 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... |
OMIM:308240 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
| Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosp... |
OMIM:613101 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypothermia, Elevated circulating acylcarnitine conc... |
ORPHA:159 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level |
OMIM:193670 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent sinusitis, ... |
OMIM:620282 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
| Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Neonatal hyperbilirubinemia, Hypothermia, Prolonged neonatal jaundice |
ORPHA:95717 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... |
OMIM:240500 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| C3 Glomerulopathy |
|
Hypertension, Elevated circulating creatinine concentration, Lipodystrophy |
ORPHA:329918 |
| Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Increased circulating IgM lev... |
ORPHA:448237 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... |
ORPHA:3085 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... |
OMIM:243700 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Small for gestational age, Congenital generalized lipodystrophy, Generalized lipod... |
OMIM:608154 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... |
ORPHA:2137 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla... |
OMIM:619281 |
| Hereditary Central Diabetes Insipidus |
|
Fever, Polydipsia, Weight loss |
ORPHA:30925 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence... |
OMIM:607594 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age, Insulin resistance, Absen... |
OMIM:269880 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hyp... |
ORPHA:465508 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Pannicul... |
OMIM:618398 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia |
ORPHA:364 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy |
ORPHA:1818 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in sk... |
OMIM:614654 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:264580 |
| Adult Idiopathic Neutropenia |
|
Increased circulating IgM level, Antineutrophil antibody positivity, Recurrent aphthous stomatitis |
ORPHA:2688 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... |
ORPHA:449400 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
| H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Short stature, Diabetes mellitus, Hepatosplenomegaly, Hernia... |
ORPHA:168569 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Abnormal te... |
ORPHA:791 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
| Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Hepatocellular carcinoma, Elbow flexion contracture, Hypogonadism, Decreased body ... |
OMIM:616200 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90158 |
| Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... |
ORPHA:36382 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Postural hypotension with compensato... |
ORPHA:369873 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Lipodystrophy, Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy... |
OMIM:212112 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Hypoalbuminemia, Macrovesicular hepatic... |
OMIM:618329 |
| Alg3-Cdg |
|
Lipodystrophy, Abnormality of the endocrine system, Cardiomyopathy, Decreased liver function, Art... |
ORPHA:79321 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint con... |
OMIM:175700 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:79240 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... |
OMIM:619013 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Th... |
OMIM:617388 |
| Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... |
ORPHA:35878 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated... |
OMIM:617253 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased muscle glycogen ... |
OMIM:261750 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Autoimmunity, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgG level, D... |
OMIM:616005 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
| Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
| Werner Syndrome |
|
Lipoatrophy, Lipodystrophy, Myocardial infarction, Telangiectasia of the skin, Congestive heart f... |
ORPHA:902 |
| Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Prolonged neonatal jaundice, Umbilical hernia, Abnormal circulating thyroglobulin le... |
ORPHA:95716 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Elevated circula... |
OMIM:614727 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
| Short Syndrome |
|
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Diabetes... |
ORPHA:3163 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver... |
ORPHA:79319 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protein concentratio... |
OMIM:617099 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Short stature, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed... |
ORPHA:90154 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Insulin res... |
ORPHA:73272 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Severe short stature, Lipodystrophy, Short stature, Diabetes... |
OMIM:270450 |
| Boutonneuse Fever |
|
Skin rash, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema |
ORPHA:83313 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... |
OMIM:609069 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple... |
ORPHA:444490 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension |
OMIM:189800 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Eczema, Craniosynostosis, Keratitis, Increased circulating IgE level, Hip dislocatio... |
OMIM:618523 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
| Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis |
OMIM:216950 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Immunodeficiency 105 |
|
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:619924 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Ascites, A... |
OMIM:615710 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Bronchiectasis, Ulcerative colitis, Decreased circulating total ... |
OMIM:618394 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... |
OMIM:203800 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Hypertensio... |
OMIM:615830 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
| Cystinosis |
|
Fever, Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Polydipsia, Failure to t... |
ORPHA:213 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... |
OMIM:242860 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... |
OMIM:301082 |
| D-Glyceric Aciduria |
|
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
| Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... |
ORPHA:769 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Autoimmune thrombocytopenia, Increased circulating IgA level, Increased circulating IgE level, In... |
ORPHA:169154 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia |
OMIM:601457 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Soft tissue neoplasm, Vaginal neoplasm, Genital neo... |
ORPHA:2126 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Hypercholesterolemi... |
ORPHA:69663 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
| Congenital Short Bowel Syndrome |
|
Lipoatrophy |
ORPHA:2301 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Tachycardia, Fasciitis, Lipodystrophy, Dupuytren contracture, Jaun... |
ORPHA:39812 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... |
ORPHA:275 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Lipodystrophy, Flexion contracture, Atypical scarring of skin, Atrophic scars, Pulmonic stenosis,... |
ORPHA:75496 |
| Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... |
ORPHA:440713 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre... |
ORPHA:276 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypocholesterolemia, Failure... |
OMIM:610883 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Growth delay, Steatorrhea... |
ORPHA:71 |
| Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Increased circulating IgG level, Limited elbow flexion, Limited... |
ORPHA:206594 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... |
OMIM:619824 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Osteolysis, Osteoporosis |
ORPHA:100024 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Fever, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... |
ORPHA:91139 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin rash, Increased ... |
OMIM:615934 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent skin infections, Joint stiffness, Reduced bone mineral density, Decr... |
OMIM:620210 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Kleine-Levin Syndrome |
|
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... |
ORPHA:33543 |
| Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis, Recurre... |
OMIM:619183 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Lipoatrophy, Anterior ... |
ORPHA:157954 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased adipose tissue, Congestive heart failure, Dilated cardiomyopathy, Multiple lipomas, Hyp... |
ORPHA:1349 |
| Macrophage Activation Syndrome |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concen... |
ORPHA:158061 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum |
OMIM:615214 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:620010 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
| Immunodeficiency 15B |
|
Agammaglobulinemia, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to m... |
OMIM:615592 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complet... |
OMIM:613496 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Lipoatrophy |
ORPHA:261304 |
| Trimethylaminuria |
|
Splenomegaly, Hypertension, Tachycardia |
OMIM:602079 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Autoimmune th... |
OMIM:615559 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Fever, ... |
ORPHA:20 |
| Acrogeria |
|
Telangiectasia of the skin, Lipoatrophy |
ORPHA:2500 |
| Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... |
OMIM:615577 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Intra... |
OMIM:618775 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the elbow, Increased circulating IgE level, Abnormality of the wrist |
ORPHA:89843 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
| Yellow Fever |
|
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
ORPHA:99829 |
| Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... |
ORPHA:225 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
| Immunodeficiency 96 |
|
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... |
OMIM:619774 |
| Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B... |
OMIM:241600 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:619752 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Short stature, Lipodystrophy, Postnatal growth retardation, Abnormal subcutaneou... |
ORPHA:357074 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Increased circulating IgE level, Re... |
OMIM:147060 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
| Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... |
OMIM:619510 |
| Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Increased circulating specific IgE antibody, Increas... |
ORPHA:74 |
| Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, Allergic rhinitis, ... |
OMIM:615816 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:614069 |
| Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia, Hypothermia, Cardiomegaly |
OMIM:601005 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Fever, Increased... |
OMIM:603553 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration, Recurrent fever |
OMIM:619468 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Increased circulating antibody level, Autoimmunity, Autoimmune th... |
OMIM:614470 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Lack of facial sub... |
ORPHA:90156 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Abnormality of the gallbladder, Failure to thrive, Hypothyroidism |
ORPHA:349 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Hepatic steatosis, Thyroid carcinoma |
ORPHA:210548 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia |
OMIM:610539 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circulating antibody level, Ot... |
ORPHA:169160 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Hypothermia, Growth delay, Umbilical hernia, Prolonged neonatal jaundice, Hype... |
ORPHA:90674 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Menkes Disease |
|
Intrauterine growth retardation, Decreased circulating ceruloplasmin concentration, Short stature... |
OMIM:309400 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... |
ORPHA:98908 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, El... |
OMIM:618805 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Shagreen patch |
ORPHA:2617 |
| Griscelli Syndrome Type 2 |
|
Fever, Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto... |
ORPHA:436159 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Enlarged polycystic ovaries, Hyperlipidemia, Insulin resistance, Obesity, Grow... |
ORPHA:91 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci... |
ORPHA:98907 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Umbilical hernia, Large for gestational age, Hypothermia, Prolonged neonatal jaundice |
ORPHA:226313 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
| Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... |
ORPHA:2905 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... |
ORPHA:3261 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion contracture, Knee flexion ... |
OMIM:214150 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Fever, Hypertriglyceridemia, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Ab... |
ORPHA:567548 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Ascites, Hypoalbuminemia |
OMIM:603278 |
| Genetic Transient Congenital Hypothyroidism |
|
Umbilical hernia, Increased circulating thyroglobulin level, Hypothermia, Prolonged neonatal jaun... |
ORPHA:226316 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre... |
OMIM:500009 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Short stature, Lipoatrophy, Umbilical hernia, Intrauterine g... |
ORPHA:2963 |
| Congenital Enterovirus Infection |
|
Fever, Fetal ascites, Hypothermia, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepat... |
ORPHA:292 |
| Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... |
ORPHA:79474 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... |
ORPHA:79303 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... |
OMIM:618234 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension |
OMIM:121300 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:619737 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... |
OMIM:540000 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... |
OMIM:619705 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... |
OMIM:614878 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia |
OMIM:616069 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive |
ORPHA:172 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating c... |
OMIM:212138 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... |
OMIM:235200 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Pulmonary carcinoid tumor, Intracran... |
ORPHA:363618 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyper... |
OMIM:602579 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperur... |
ORPHA:77296 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... |
OMIM:232200 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Hypothermia, F... |
ORPHA:17 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... |
OMIM:619127 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... |
ORPHA:85435 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine ... |
ORPHA:230 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Facial hypertrichosis, Insul... |
ORPHA:508 |
| Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive |
OMIM:230350 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
| Lassa Fever |
|
Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Thick hair, Hepatosplenomegaly, Ci... |
ORPHA:263501 |
| Werner Syndrome |
|
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Elevated circulating aspartate amin... |
OMIM:277700 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Lipodystrophy, Decreased response to growth hormone stimulation test, Panhypopituitarism, Failure... |
OMIM:618922 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Increased circulating IgE level, Recurrent pneu... |
OMIM:618282 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated creatine ... |
ORPHA:99901 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... |
ORPHA:1344 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
| Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:614921 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
| Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, Autoimmunity, Incre... |
ORPHA:443811 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Hypercholesterolemia, Hypoglycemia, Delayed puberty |
ORPHA:633 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Hypothermia, Prolonged neonatal jaundice, Umbilical he... |
ORPHA:90673 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Failure to thrive, Lipodystrophy |
OMIM:219200 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:31825 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Hypertriglyceridemia, Increased circulating f... |
ORPHA:540 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
| Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... |
OMIM:301078 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... |
OMIM:615962 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia, Hypothyroidism |
ORPHA:90065 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia, Polydipsia, Unexplained fevers |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Polydipsia, Unexplained fevers |
OMIM:304800 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia, Short stature, Obesity |
ORPHA:289522 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... |
OMIM:608836 |
| Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
| Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hyperlipidemia, Growth delay, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... |
ORPHA:890 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Hypoglycemia |
OMIM:201910 |
| Immunodeficiency 22 |
|
Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ... |
OMIM:615758 |
| Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Abnormal B cell proliferation, Eso... |
OMIM:619652 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture |
OMIM:608540 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
| Placental Insufficiency |
|
Intrauterine growth retardation, Insulin resistance, Small for gestational age, Proportionate sho... |
ORPHA:439167 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive |
ORPHA:570422 |
| Familial Cold Urticaria |
|
Fever, Polydipsia |
ORPHA:47045 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Growth delay, Delayed puberty, ... |
OMIM:615704 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia |
OMIM:615453 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Adrenal insufficiency, Hypoalbuminemia, Hypog... |
OMIM:617575 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Elevated circulating creatinine concentration, Flexion contracture, Small for gesta... |
OMIM:616733 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Hyperechogenic pancreas, Achilles tendon... |
ORPHA:456312 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Antiphospholipid antibody positivity |
OMIM:182410 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Short stature, Increased body weight |
OMIM:182290 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Increased muscle lipid content, Increased muscle glycogen content, Abnormality of t... |
ORPHA:254864 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
| Meningococcal Meningitis |
|
Fever, Hypothermia, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
| Alpha-Heavy Chain Disease |
|
Fever, Hepatomegaly, Splenomegaly, Growth delay, Hypocalcemia, Ascites |
ORPHA:100025 |
| Monosomy 13Q34 |
|
Hypercalcemia, Insulin resistance, Obesity, Growth delay, Hepatic steatosis |
ORPHA:96168 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Hyperlipidemia, Flex... |
ORPHA:90153 |
| Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Abnormality of connective t... |
ORPHA:494424 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... |
OMIM:619167 |
| Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... |
ORPHA:681 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hypoglycemia, He... |
OMIM:232220 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce... |
ORPHA:417 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphadenitis, Decreased circulating antibo... |
ORPHA:331206 |
| Primary Biliary Cholangitis |
|
Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Osteoporosis, Hep... |
ORPHA:186 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
| Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia, Ascites |
ORPHA:391673 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphoma, Osteolysis, Lymphadenopathy, Weight loss, Neoplas... |
ORPHA:391 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
| Immunodeficiency 32B |
|
Sinusitis, Pneumonia, Bronchiectasis, Impaired oxidative burst, Abnormal circulating IgG level |
OMIM:226990 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Jaundice, Hyperammonemia, E... |
ORPHA:79282 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat... |
ORPHA:206572 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Glycosuria, Arthrogry... |
ORPHA:99885 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Fever, Cachexia, Splenomegaly, Insulin resistance |
ORPHA:3452 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly |
OMIM:105200 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li... |
OMIM:246900 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Short stature, Hypothermia, Elbow ... |
OMIM:618493 |
| Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism |
ORPHA:96184 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Autoimmunity, Increased circulating IgE level, Inc... |
ORPHA:449432 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
| Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno... |
OMIM:602390 |
| Rhabdoid Tumor |
|
Hypercalcemia, Weight loss, Hypertension, Neoplasm of the liver, Internal hemorrhage |
ORPHA:69077 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... |
ORPHA:59303 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Flexion contracture |
ORPHA:171442 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Short stature, Insulin resistance, Truncal obesity, Dispropor... |
OMIM:616541 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hypertension, Cardiomyopath... |
OMIM:102200 |
| Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Hypoglycemia, Hypothermia, Overweight, Growth delay, Prolonged neonatal jaund... |
ORPHA:226307 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
| Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Fever, Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia |
OMIM:619313 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Nephrogenic Diabetes Insipidus |
|
Fever, Anorexia, Hypernatremia, Polydipsia, Failure to thrive |
ORPHA:223 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado... |
ORPHA:2959 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Erythroderma |
OMIM:270300 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia, Failure to thrive |
OMIM:607765 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Short stature, Hypoglycemia, Hepatocellula... |
ORPHA:79259 |
| Pseudohypoaldosteronism Type 2 |
|
Hypertension, Abnormal dental enamel morphology |
ORPHA:757 |
| Becker Nevus Syndrome |
|
Lipoatrophy |
ORPHA:64755 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Erythema... |
OMIM:614700 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hyper... |
OMIM:231530 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, ... |
ORPHA:1667 |
| Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Decreased serum leptin, Flexion contracture, Right bundle branch block, Hypertension... |
OMIM:614008 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hyperlipidemia, Obesity, Intrauterine growth retardation, Arthrogryposis multi... |
ORPHA:254346 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... |
ORPHA:331235 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Decreased liver function, Hypertrophic cardiomyopathy, Failure to thriv... |
ORPHA:70472 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
| Senior-Loken Syndrome |
|
Hypertension, Congenital hepatic fibrosis |
ORPHA:3156 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis craniali... |
OMIM:231095 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Hypertension, Cryptorchidism |
ORPHA:1192 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Rheumatoid factor positive, Pneumonia, Glomerulone... |
ORPHA:1304 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
| Apparent Mineralocorticoid Excess |
|
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating al... |
OMIM:218030 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Growth delay, ... |
ORPHA:541423 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly |
ORPHA:2576 |
| Polycystic Kidney Disease 5 |
|
Hypertension, Hepatosplenomegaly |
OMIM:617610 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
| Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... |
ORPHA:64744 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, ... |
ORPHA:525731 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hepatic steatosis, Obesity |
OMIM:615996 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Recurrent pneumonia, Increased circulating IgM level, Bone marrow hypocellul... |
OMIM:617303 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Thick hair, Type II diabetes mellitus, Highly arched eyebrow |
ORPHA:401923 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Postnatal growth retardation... |
OMIM:616263 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased ... |
ORPHA:320 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm... |
ORPHA:183675 |
| Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... |
ORPHA:90041 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat, Generalized lipody... |
OMIM:616914 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Hypera... |
ORPHA:3008 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Decreased circulating ant... |
OMIM:613011 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
| De Barsy Syndrome |
|
Inguinal hernia, Short stature, Lipodystrophy, Postnatal growth retardation, Umbilical hernia, In... |
ORPHA:2962 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay |
ORPHA:79238 |
| Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff... |
OMIM:260370 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Hypothermia |
ORPHA:168593 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
| Gitelman Syndrome |
|
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Hashimot... |
ORPHA:358 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
| Immunodeficiency 97 With Autoinflammation |
|
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosp... |
OMIM:619802 |
| Pancreatic Agenesis 2 |
|
Diabetes mellitus, Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancrea... |
OMIM:615935 |
| Tularemia |
|
Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased circulating antibody level, Oti... |
ORPHA:3392 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi... |
OMIM:601847 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
| Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Hypertriglyceridemia, Increased circulating f... |
ORPHA:158048 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
| Multiple Myeloma |
|
Osteopenia, Increased circulating IgA level, Decreased circulating antibody level, Increased circ... |
ORPHA:29073 |
| Tenorio Syndrome |
|
Osteopenia, Hypoglycemia, Hypoinsulinemia, Joint laxity |
OMIM:616260 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
| Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow h... |
ORPHA:86843 |
| Rift Valley Fever |
|
Skin rash, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating IgM level, ... |
ORPHA:319251 |
| Lessel-Kubisch Syndrome |
|
Hypertension |
OMIM:618681 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Elevated circulating glutaric a... |
OMIM:231680 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Fever, Elevated circulating creatine kinase concentr... |
ORPHA:94093 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
| Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal... |
ORPHA:97282 |
| Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:403 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... |
ORPHA:33110 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Fever, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticoster... |
ORPHA:556037 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypertens... |
OMIM:610965 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... |
ORPHA:3464 |
| East Syndrome |
|
Salt craving, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia,... |
ORPHA:199343 |
| Netherton Syndrome |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh... |
OMIM:256500 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Failure to thrive, Hypothermia, Low plasma citrulline, Hyperalaninemia, Hepa... |
ORPHA:255210 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Short stature, Failure to thrive in infancy, Obesity, Delayed puberty, Hype... |
ORPHA:819 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Hypoglycemia, Hyperglycerolemia, Chronic pancreatitis, Small... |
OMIM:307030 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatit... |
OMIM:304790 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Fever, Short stature, Hypothermia, Hyperlipidemia, H... |
ORPHA:293987 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... |
ORPHA:348 |
| Silver-Russell Syndrome |
|
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Insulin resi... |
ORPHA:813 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Fever, Weight loss |
ORPHA:86893 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Congenital diaphragmatic hernia |
OMIM:166300 |
| Thymoma |
|
Myositis, Autoimmunity, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyt... |
ORPHA:99867 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
| Menkes Disease |
|
Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Umbilical hernia, Hernia, ... |
ORPHA:565 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertensio... |
OMIM:619487 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... |
OMIM:600001 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
| Riboflavin Transporter Deficiency |
|
Hypertension, Cachexia, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Myocardial infarction, Hyperhomocystinemia, Hypermethioninemia, Failure to thriv... |
OMIM:236200 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Short stature, Hypo... |
OMIM:616026 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Wei... |
ORPHA:94080 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Lipodystrophy, Postnatal growth retardation, Flexion contracture, Congenital g... |
ORPHA:435628 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Hyperammonemia |
ORPHA:28 |
| Porphyria Variegata |
|
Elevated hepatic transaminase, Hyponatremia, Tachycardia, Scarring, Abnormal circulating porphyri... |
ORPHA:79473 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Inc... |
ORPHA:228123 |
| Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Weight loss, Hypertension, Cerebral ischemia, Pulmonary arteri... |
ORPHA:3287 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Dexamethasone-sup... |
ORPHA:251274 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
| Wolman Disease |
|
Fever, Hepatomegaly, Cachexia, Splenomegaly, Growth delay, Ascites, Steatorrhea, Hepatic failure |
ORPHA:75233 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Cholestasis, Hypo... |
OMIM:608104 |
| Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Flexion contracture, Interphalangeal thumb joint contracture |
OMIM:613870 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont... |
ORPHA:367 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ... |
ORPHA:536532 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Epistaxis, Elevated circulating aspartate aminotransferase concentration, Diffuse a... |
OMIM:614034 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... |
ORPHA:470 |
| Dubin-Johnson Syndrome |
|
Fever, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormal... |
ORPHA:234 |
| Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Tricuspid regurgitation, Lipodystrophy, Periportal fibrosis, Hypoplasi... |
ORPHA:79328 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... |
ORPHA:746 |
| Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Tubulointerstitial ne... |
ORPHA:449395 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent ... |
ORPHA:343 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
| Gitelman Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Recurrent fever, Hypomagnesemia, Po... |
OMIM:263800 |
| Glutaric Aciduria Iii |
|
Hypertension, Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
| Nephroblastoma |
|
Hypertension, Weight loss, Neoplasm of the liver |
ORPHA:654 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Myelodysplasia, Acute leukemia |
ORPHA:3318 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil... |
OMIM:211600 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity, Maternal diabetes |
ORPHA:3157 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microve... |
OMIM:124000 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... |
ORPHA:35078 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal circulating... |
ORPHA:77293 |
| Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Weight l... |
ORPHA:767 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
| Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
| Bloom Syndrome |
|
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... |
ORPHA:125 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Short stature, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Lipodystrophy, Flexion contra... |
ORPHA:86309 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... |
ORPHA:3409 |
| Japanese Encephalitis |
|
Stiff neck, Genu recurvatum, Elbow flexion contracture, Increased circulating IgM level, Increase... |
ORPHA:79139 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
| Tick-Borne Encephalitis |
|
Stiff neck, Increased circulating IgG level, Increased circulating IgM level, Abnormality of seru... |
ORPHA:297 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
| Nephronophthisis 18 |
|
Hypertension, Portal fibrosis, Cholestasis |
OMIM:615862 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Generalized hirsutism, Hernia |
ORPHA:93476 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... |
OMIM:232240 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Elevated circulating thyroid-stimulating hormone concentration, K... |
OMIM:601812 |
| Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Hypotension |
ORPHA:199296 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Gluc... |
OMIM:615630 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Hypoth... |
OMIM:212065 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Growth delay, Hyperbilirubinemia, Umbilic... |
OMIM:218700 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Hyperte... |
OMIM:219090 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... |
ORPHA:90795 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Increased... |
OMIM:215600 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Hypophosphatemia, Polydipsia,... |
ORPHA:411629 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro... |
OMIM:619064 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity |
ORPHA:90003 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Short stature, Diabetes ... |
ORPHA:51 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypokalemia, Hypotension |
OMIM:611489 |
| Xp21 Deletion Syndrome |
|
Growth delay, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste... |
OMIM:611126 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Fever, Hypoglycemia, Elevated circulating creatine kinase concentr... |
ORPHA:99826 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Joint hemorrhage, Eczema, Increased circulating IgA level |
OMIM:313900 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Sinusitis, Inflammatory abnormali... |
OMIM:102700 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath... |
ORPHA:280679 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... |
OMIM:131100 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Caroli Disease |
|
Fever, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjuga... |
ORPHA:53035 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
| Infantile Refsum Disease |
|
Hepatomegaly, Very long chain fatty acid accumulation, Short stature, Elevated circulating phytan... |
ORPHA:772 |
| Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Flexion contracture, Increased circulating IgM level, Conjunctivitis, Bone marro... |
ORPHA:505248 |
| Schimke Immuno-Osseous Dysplasia |
|
Short stature, Small for gestational age, Hyperlipidemia, Disproportionate short-trunk short stat... |
ORPHA:1830 |
| Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Diabetic ketoacidosis, Vasculitis, Hypotension |
ORPHA:70578 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
| Alg12-Cdg |
|
Hyponatremia, Abnormal bone ossification, Recurrent hypoglycemia, Abnormal adipose tissue morphol... |
ORPHA:79324 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Short stature, Elevated circulating C-reactive protein concentration, Failure to th... |
OMIM:619423 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Failure to thrive, Short stature, Hypoglycemia, P... |
OMIM:613658 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:369929 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Hypertension, Second degree atrioventricular block, Hypoalbuminemia, D... |
OMIM:617021 |
| Erdheim-Chester Disease |
|
Fever, Increased bone mineral density, Osteolysis, Weight loss, Xanthelasma, Polydipsia |
ORPHA:35687 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Erythrocytosis, Familial, 1 |
|
Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, Recurren... |
ORPHA:507 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:618183 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Recurrent otitis media, Cu... |
OMIM:600802 |
| Bardet-Biedl Syndrome |
|
Obesity, Hypertension, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis |
ORPHA:110 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Pneumocystosis |
|
Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody level, Chron... |
ORPHA:723 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
| Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Nephritis, Pan... |
ORPHA:449427 |
| Prolidase Deficiency |
|
Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Systemic lupus erythematosus, Incr... |
OMIM:170100 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
| Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts |
OMIM:600666 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Fever, Increased serum prostaglandin E2, Small for gestational age,... |
OMIM:241200 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Obesity |
OMIM:615994 |
| Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Decreased circula... |
ORPHA:231580 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... |
ORPHA:2470 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Growth delay, Hypothermia |
OMIM:608800 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97280 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Limitation of joint mobility, Lymphoma, Osteolysis, Synovitis, Lympha... |
ORPHA:47612 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Intr... |
OMIM:614602 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating C-reacti... |
OMIM:619644 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosis, ... |
OMIM:614742 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... |
OMIM:171400 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Portal hypertension, Retinal telangiectasia, Hepatic fibrosis, Bone marrow hypocellul... |
OMIM:617341 |
| Wrinkly Skin Syndrome |
|
Inguinal hernia, Short stature, Lipodystrophy, Postnatal growth retardation, Umbilical hernia, Hi... |
ORPHA:2834 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Decreased... |
OMIM:606367 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia, Polydipsia, Failure to thrive |
OMIM:239200 |
| Alexander Disease |
|
Failure to thrive, Diabetes mellitus, Hypothermia |
ORPHA:58 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia |
OMIM:202110 |
| Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Increased cir... |
ORPHA:562 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Fever, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia |
OMIM:246450 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Hyperhomocystinemia, Hypertension, Abnormality of the liver, Failure to thrive |
ORPHA:2169 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Impaired thrombin-induced platelet aggregation, Impaired collagen-in... |
OMIM:139090 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, P... |
OMIM:619991 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Increased circulating IgE level, Autoimmunity |
ORPHA:2902 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... |
OMIM:276700 |
| Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Osteopetrosis, Failure to thrive |
OMIM:615085 |
| Encephalocraniocutaneous Lipomatosis |
|
Multiple lipomas, Aortic valve stenosis, Lipodystrophy, Pulmonary arterial hypertension |
ORPHA:2396 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Tbck-Related Intellectual Disability Syndrome |
|
Abnormal circulating lipid concentration, Hypothermia |
ORPHA:488632 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased cir... |
ORPHA:85450 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
| Netherton Syndrome |
|
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... |
ORPHA:634 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
| Nodular Non-Suppurative Panniculitis |
|
Fever, Hepatomegaly, Splenomegaly, Weight loss, Panniculitis |
ORPHA:33577 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Hepatic cysts |
OMIM:173900 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Atrioventricular block, Polycystic ovaries, Hypertension, Type I diabetes mellitus, ... |
ORPHA:371428 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:567544 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171420 |
| Q Fever |
|
Pericarditis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Maculopapular exa... |
ORPHA:781 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating C-reactive... |
OMIM:615688 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Growth delay, T... |
OMIM:210900 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... |
OMIM:208085 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
| Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly |
OMIM:617441 |
| Propionic Acidemia |
|
Hepatomegaly, Short stature, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive, Pa... |
OMIM:606054 |
| Griscelli Syndrome |
|
Fever, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulat... |
ORPHA:381 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Skin rash, Eczema, Recurrent fractures, Craniosynostosis, Increased ci... |
ORPHA:2314 |
| Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level, Joint stiffness |
ORPHA:1493 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:176270 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Fever, Failure to thrive, Hypertriglyceridemia, Short statur... |
ORPHA:3455 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Osteoporosis, Dysphagia, Weight loss, Hypophosphatemia, Lipoma, Polydipsia, Chondr... |
ORPHA:143 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227990 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ... |
OMIM:229600 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614576 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to t... |
OMIM:251000 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... |
OMIM:617600 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Scarring, Hypertension, Incr... |
ORPHA:90321 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Increased bone mineral density, Optic disc pallor, Recurrent fractures, Splenomegal... |
OMIM:611490 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Hypoglycemia, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurg... |
OMIM:620300 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Hypokalemia, Hypomagnese... |
ORPHA:699 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Prolonged neonatal jaun... |
OMIM:618892 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia,... |
OMIM:612780 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver, Raynaud phenomenon, Punct... |
ORPHA:247691 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, ... |
ORPHA:96253 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Camptodactyly of finger, Decreased response to grow... |
OMIM:602782 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Pheochromocytoma, Elevated cir... |
ORPHA:1332 |
| Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Intrauterine growth reta... |
OMIM:609981 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Rickets... |
OMIM:219800 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Lipody... |
ORPHA:79318 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegal... |
ORPHA:14 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation... |
ORPHA:221139 |
| Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Atrophic scars,... |
ORPHA:542643 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormality of temperature regulation, Splenomegaly, Hepatitis, Abnormality of iron... |
ORPHA:848 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypertension, Hypophosphatemia, Glycosuria |
OMIM:618913 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hypertension, Hep... |
OMIM:216360 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Postnatal growth retardation, Insulin resistance, Severe intrauterine ... |
ORPHA:96182 |
| Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Jaundice, Hepatitis, Chole... |
ORPHA:198 |
| Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decre... |
ORPHA:273 |
| Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... |
OMIM:131300 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... |
ORPHA:93111 |
| Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Lipoatrophy, Small for gestational age, Flexion contracture, Heart murmu... |
ORPHA:284979 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Growth delay, Elevated circulati... |
ORPHA:66634 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Fever, Hypertriglyceridemia, Increased circulating f... |
ORPHA:167 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Highly arched eyebrow, Increased hepatocellular lipid droplets, Mi... |
OMIM:220111 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperalaninemia, Inguinal hernia, Small for gestational age, Hyperammonemia, Hypertension, Hypert... |
OMIM:614052 |
| Helix Syndrome |
|
Hypokalemia, Polydipsia, Hypermagnesemia, Heat intolerance |
OMIM:617671 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
| Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... |
ORPHA:231632 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227982 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Fever, Elevated circulating C-reactive protein concentration |
ORPHA:85414 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Hyperte... |
ORPHA:251004 |
| Oligomeganephronia |
|
Small for gestational age, Polydipsia, Elevated circulating creatinine concentration, Congenital ... |
ORPHA:2260 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis |
OMIM:616937 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Autoimmunity, Osteoporosis, Hepatitis, Uveitis, Polyclonal elevation of IgM, Ulcerati... |
ORPHA:171 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... |
ORPHA:30391 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts |
OMIM:618061 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Elevated circulating C-reactive protein conce... |
ORPHA:829 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia, Hypothermia |
ORPHA:31826 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Multiple lipomas, Lipoatrophy |
ORPHA:276280 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Pso... |
ORPHA:37042 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubine... |
OMIM:266200 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... |
ORPHA:466677 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size, Nail dystrophy |
OMIM:610644 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
| Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Cholestasis, Hypertension, Reduced number of intrahepat... |
ORPHA:52 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Sarcoidosis |
|
Fever, Hepatomegaly, Scarring, Hypercalcemia, Portal hypertension, Hypothermia, Abnormal liver pa... |
ORPHA:797 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Flexion contracture, Growth delay, Intrauterine growth retardation, Hepatic steatosis... |
OMIM:616271 |
| Polymyositis |
|
Fever, Hepatomegaly, Elevated circulating creatine kinase concentration, Weight loss, Chondrocalc... |
ORPHA:732 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Hypertrophic cardi... |
ORPHA:436271 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Hypertension, Mitral regurgitation, Pulmona... |
OMIM:230800 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Increased circulating ant... |
ORPHA:77259 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Eosinophi... |
ORPHA:3260 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Coarse hair, Umbilical hernia, Hirsutism |
OMIM:252900 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618126 |
| Encephalitis Lethargica |
|
Stiff neck, Increased circulating antibody level, Autoimmunity |
ORPHA:83600 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Umbilical hernia, Hepatic failure, Hypertension |
OMIM:619758 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... |
ORPHA:276621 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:90362 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Antinuclear antibody positiv... |
ORPHA:449563 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, Decreased circulating IgG le... |
OMIM:612301 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Cardiomyopathy, Hepatic steatosis, Neonatal hypogl... |
ORPHA:445038 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... |
OMIM:210250 |
| Tangier Disease |
|
Left ventricular hypertrophy, Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly |
ORPHA:31150 |
| Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Decreased circulating total IgM, Arthritis, Otitis media, Recurre... |
ORPHA:420741 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pancreatoblastoma, Pituitary corticotropic cell adeno... |
ORPHA:99889 |
| Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, I... |
OMIM:260920 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Hypertension, Glycosuria, Failure to thrive |
ORPHA:97362 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Otitis media |
OMIM:602450 |
| Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, ... |
ORPHA:160 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Elevated circulating globotria... |
OMIM:301500 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Flexion contracture, Hypothermia |
ORPHA:99027 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
| Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... |
ORPHA:1163 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Chronic decreased cirulating IgG2, Chronic oral candidiasis,... |
OMIM:615607 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
| Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:177200 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Reduced bone mineral density, Hypokalemia, Polydipsia, Failure to thrive |
ORPHA:18 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi... |
OMIM:612714 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Elevated hepatic transaminase, Failure to thrive in infancy, Myocardial in... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, Failure to thrive in infancy, Myocardial in... |
ORPHA:99228 |
| Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, Failure to thrive in infancy, Myocardial in... |
ORPHA:99226 |
| Turner Syndrome |
|
Prolonged QT interval, Elevated hepatic transaminase, Failure to thrive in infancy, Myocardial in... |
ORPHA:881 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per... |
OMIM:263200 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Fever, Portal hypertension, S... |
ORPHA:131 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Alagille Syndrome 2 |
|
Hypertension, Cholestatic liver disease, Cholestasis, Pulmonic stenosis |
OMIM:610205 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hyperspl... |
ORPHA:231214 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Barber-Say Syndrome |
|
Lipodystrophy |
OMIM:209885 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Ulnar deviation of the wrist, Eczema, Elbow contracture, Allergic rhinitis, Knee flexion contract... |
OMIM:618162 |
| Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Glycosuria,... |
ORPHA:47159 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Insulin resistance, Absence o... |
ORPHA:740 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Hypotension |
ORPHA:95619 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema |
ORPHA:319218 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Hypoam... |
ORPHA:556955 |
| Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Retinal dystrophy, Pancreatic steatosis, Reduced bone mine... |
OMIM:617052 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Male hypogonadism, Hypercholesterolemia,... |
OMIM:619471 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Stillbirth, Decreased liver function, Neonatal death, Hepatic steatosis |
OMIM:614922 |
| Neuhauser Syndrome |
|
Hypercholesterolemia, Low anterior hairline, Primary hypothyroidism |
OMIM:249310 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
| Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Hypercalcemia, Thyroid C cel... |
ORPHA:653 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... |
ORPHA:29072 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hernia, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Increased LDL cholesterol con... |
ORPHA:330015 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... |
ORPHA:347 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Elevated circula... |
OMIM:608779 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Osteoporosis, Dysphagia, Hypophosphatemia, Lipoma, Polydipsia, Chondrocalcinosis |
ORPHA:99880 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Hypothyroidism, Bone marrow hypocellularity, Squamous cell carcinoma of the tongue |
OMIM:618849 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia, Failu... |
OMIM:602522 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Inguinal hernia, Hyperactivity, Large for gestational age, Attention... |
OMIM:607721 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Polydipsia |
ORPHA:95513 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension |
OMIM:613320 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetros... |
OMIM:620366 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:615356 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Stiff neck, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Increased ... |
ORPHA:99827 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... |
OMIM:118450 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Impaired T cell function, Autoimmune thrombocy... |
OMIM:613179 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... |
OMIM:615508 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Second degree atrioventricular block, Hypokalemia, Primary hyperaldosteronism, Pulm... |
OMIM:615474 |
| Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
| Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly |
OMIM:231670 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... |
OMIM:607143 |
| Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
| Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
| Hypomagnesemia 3, Renal |
|
Polydipsia, Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:264700 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Cryptorchidism, Splenomegaly, Pancreatic... |
OMIM:235255 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:277440 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Small for gestational age, Elevated circulating thyroid-stimulating ho... |
OMIM:242900 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Short stature, Lipoatrophy, Small for ... |
OMIM:264090 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plate... |
OMIM:187900 |
| Say-Barber-Miller Syndrome |
|
Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislo... |
ORPHA:3132 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... |
OMIM:241530 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly |
ORPHA:79292 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, C... |
ORPHA:2255 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compulsive behaviors, Unexpl... |
ORPHA:209905 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Abnormality of the pancreas, Umbilical hernia, Hypertension, Cryptorchidism |
ORPHA:1555 |
| Dengue Fever |
|
Fever, Hepatomegaly, Ascites, Hypoproteinemia |
ORPHA:99828 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Myelodysplasia, Bone marrow hypocellularity, Attentio... |
OMIM:619151 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram... |
OMIM:220110 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Short stature, Hypercalcemia, Small for gestational age, Splenomegaly, Elbow flexio... |
OMIM:618440 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Transient hyperphenylalaninemia, Progressive flexion contractures, Hypothyroidism |
ORPHA:98808 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Ja... |
OMIM:611881 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... |
ORPHA:394 |
| Thalidomide Embryopathy |
|
Insulin resistance, Short stature |
ORPHA:3312 |
| Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Hypertension, Failure to thrive in infancy, Increased circulating creatine kinase M... |
OMIM:617595 |
| Rett Syndrome |
|
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... |
ORPHA:778 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hematemesis, Splenomegaly, Hypothyroidism, Vasculitis, Increased circulating ferrit... |
OMIM:615846 |
| Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion co... |
OMIM:208050 |
| Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Sparse scalp hair, Inguinal hernia, Hyperparathyroidism, Hypercholesterolemia, Hypo... |
ORPHA:534 |
| Waldenström Macroglobulinemia |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:33226 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| 17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Cryptorchidism, Diabetes mellitus, Pancreatic aplasia |
ORPHA:261265 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Eczema, Increased circulating IgA level, Reduced natural killer cell... |
OMIM:301000 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Hypertension, Chronic pancreatitis |
OMIM:613159 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Nephronophthisis 2 |
|
Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia |
OMIM:602088 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100082 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiec... |
ORPHA:1655 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Ascites, Hypoalbuminemia |
ORPHA:567546 |
| Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Camptodactyly of finger, Splenomegaly, Cardiomyopathy, Hypertensio... |
ORPHA:93473 |
| Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:300842 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth reta... |
ORPHA:2609 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Acute leukemia, Abnormal optic nerve mo... |
ORPHA:3226 |
| Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased circulating total IgG, Osteomalacia, Pneumonia, Skin rash, Recurrent ski... |
OMIM:619381 |
| Dubowitz Syndrome |
|
Hyperactivity, Inguinal hernia, Hypocholesterolemia |
OMIM:223370 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... |
ORPHA:57777 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Thick h... |
ORPHA:444077 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Fever, Cholangiti... |
ORPHA:480520 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... |
OMIM:620185 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... |
ORPHA:183 |
| Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Obesity |
ORPHA:369837 |
| Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Mild postnatal growth retardation, Small for gestational age, Splenomegaly, Hyperbi... |
OMIM:224120 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Intermittent hypothermia |
OMIM:608643 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Pulmonary arterial hyp... |
ORPHA:220393 |
| Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ... |
OMIM:207800 |
| Diaphanospondylodysostosis |
|
Inguinal hernia, Abnormal liver lobulation, Enlarged kidney |
OMIM:608022 |
| Citrullinemia, Classic |
|
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Transketolase Deficiency |
|
Type I diabetes mellitus, Hepatomegaly, Proportionate short stature, Elevated circulating ribitol... |
ORPHA:488618 |
| Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Diabetes mellitus, Hyperthyroidism, Hypothyroidism |
ORPHA:449291 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Scleritis, Increased... |
ORPHA:91500 |
| Secondary Intestinal Lymphangiectasia |
|
Fever, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decre... |
ORPHA:90363 |
| Staphylococcal Necrotizing Pneumonia |
|
Fever, Diabetes mellitus, Addictive alcohol use, Elevated circulating C-reactive protein concentr... |
ORPHA:36238 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for... |
ORPHA:404454 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Subarachnoid hemorrhage, Hypovo... |
ORPHA:91387 |
| Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Hypertension, Hypoalbuminemia, Camptodactyly, Failure to thrive |
OMIM:617729 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Growth delay, Hyperuricemia, Hypo... |
ORPHA:469 |
| Glycogen Storage Disease Ii |
|
Fever, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine... |
OMIM:232300 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Dysphagia, Weight loss |
ORPHA:537 |
| Caudal Regression Syndrome |
|
Hypertension, Maternal diabetes, Cryptorchidism |
ORPHA:3027 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Splenomegaly, Atypical scarri... |
OMIM:216400 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level |
OMIM:616395 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Hypert... |
ORPHA:730 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Telangiectasia of the skin, Myocardial infarction, Hiatus hernia... |
ORPHA:3342 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Elevated circulating c... |
ORPHA:340 |
| Klatskin Tumor |
|
Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
| Acute Lung Injury |
|
Fever, Increased circulating surfactant protein level, Addictive alcohol use, Elevated circulatin... |
ORPHA:178320 |
| Wolfram Syndrome |
|
Polydipsia, Diabetes mellitus |
ORPHA:3463 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... |
OMIM:619534 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:188 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia |
OMIM:614653 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic decreased circulating IgG1 |
OMIM:300953 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hyperactive renin-angiotens... |
ORPHA:89938 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Hepatomegaly, Hypoglycemia |
OMIM:229700 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Small for gestational age, Splenomegaly, Atypi... |
OMIM:133540 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171300 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Hereditary Spherocytosis |
|
Fever, Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Failure to thrive, Weight loss |
OMIM:256700 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hepatitis,... |
ORPHA:1855 |
| Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Camptodactyly of finger, Elevated circulating creatine kinase concentration... |
OMIM:309000 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
| Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Aggressive behavior, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7... |
OMIM:270400 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Myeloid leukemia, Leukemia, Bone marrow hypocellularity, Cirrhosis |
OMIM:614743 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Sinusitis, Bronchiectasis, Decreased circulating IgG2 level, Def... |
OMIM:208900 |
| Fabry Disease |
|
Fever, Short stature, Hyperlipidemia, Delayed puberty, Left ventricular hypertrophy, Abnormal cir... |
ORPHA:324 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens... |
ORPHA:97287 |
| Serotonin Syndrome |
|
Hypertension, Tachycardia, Hepatic failure, Hypotension |
ORPHA:43116 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Inguinal hernia, Shortened PR interval, Obesity, Hypertension |
OMIM:614947 |
| Marchiafava-Bignami Disease |
|
Fever, Addictive alcohol use, Aggressive behavior |
ORPHA:221074 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Craniosynostosis, Increased circulating IgE level, Elbow flexion contract... |
ORPHA:508533 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
| Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:266900 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Pheochromocytoma, Hepatic hemangioma |
OMIM:193300 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch... |
OMIM:194380 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Flexion contracture, Abdominal obesity, Azotemia, Intrauterine growth retardation,... |
OMIM:619321 |
| Cranioectodermal Dysplasia 4 |
|
Joint hypermobility, Rod-cone dystrophy, Bone marrow hypocellularity, Sagittal craniosynostosis |
OMIM:614378 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Cholangitis, Portal hypertension, ... |
ORPHA:731 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Hepatocellular carcinoma |
OMIM:176000 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Hypothermia, Corneal scarring, Growth delay, Atypical scarring of skin, Unexplained fe... |
ORPHA:642 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marrow hypocellularity, Myelodysplasia |
ORPHA:98827 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Fever, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Failure to thrive, Bone marrow hypocellularity, T-cell acute lymphoblasti... |
OMIM:605724 |
| Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Decreased circulating IgG level, Flexion contracture, Erythroderma |
OMIM:601675 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Short stature, Hypothermia, Decreased serum iron |
ORPHA:438213 |
| Carney Complex |
|
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Dorsocervical fat pad, Follicula... |
ORPHA:1359 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... |
ORPHA:210136 |
| Mgat2-Cdg |
|
Osteopenia, Decreased circulating antibody level, Decreased lymphocyte proliferation in response ... |
ORPHA:79329 |
| Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged ... |
OMIM:200995 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Unconjugated hyperbil... |
OMIM:613673 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal dental ename... |
ORPHA:221008 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Short stature, Small for gestational age, Abnormality of the pan... |
OMIM:222470 |
| Sickle Cell Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelithiasis |
OMIM:603903 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
| Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Lymphoma, Bone marrow hypocellularity, Myelodysplasia |
OMIM:616871 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
ORPHA:191 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Corneal scarri... |
OMIM:263700 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Joint hypermobility, Decreased circulating IgA level, Decreased ... |
OMIM:617062 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage |
OMIM:618886 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension |
ORPHA:427 |
| Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
| Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... |
ORPHA:79126 |
| Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... |
ORPHA:100075 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular ... |
OMIM:618278 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Cholangitis, Splenomegaly, Biliary ... |
OMIM:613610 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
| Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Brittle hair, Hypopigmentation of hair, Splenomegaly, Abnormality ... |
ORPHA:84064 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Genu valgum, Delayed ossification of carpal bones, Laryngotracheomalacia, Decreased c... |
OMIM:271510 |
| Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Hypertension, Ovarian gonadoblastoma, Congenital diaphragmat... |
OMIM:194080 |
| Familial Dysautonomia |
|
Abnormal peritoneum morphology, Hyponatremia, Orthostatic hypotension, Tachycardia, Hypertension |
ORPHA:1764 |
| Legionnaires Disease |
|
Anorexia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Cellul... |
ORPHA:549 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
| Immunodeficiency 31C |
|
Fever, Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Weight loss, Growth delay, D... |
OMIM:614162 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry... |
ORPHA:96191 |
| Acute Promyelocytic Leukemia |
|
Fever, Addictive alcohol use, Anorexia, Weight loss |
ORPHA:520 |
| Omenn Syndrome |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Hypoproteinemia |
OMIM:603554 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Recurrent fractures, Splenomegaly, Lym... |
ORPHA:1775 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
| Greenberg Dysplasia |
|
Hepatomegaly, Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, P... |
OMIM:215140 |
| Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
| Shwachman-Diamond Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Decreased response to growth horm... |
ORPHA:811 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Type I diabetes ... |
OMIM:618500 |
| Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal dental ename... |
ORPHA:2909 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Hepatomegaly, Myelodysplasia, Splenomegaly, Refractory anemia with ringed... |
ORPHA:75564 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Hepatic fibrosis, Bone marrow hypocellularity, Osteoporosis |
OMIM:613989 |
| Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
| Acute Erythroid Leukemia |
|
Refractory anemia with ringed sideroblasts, Bone marrow hypocellularity |
ORPHA:318 |
| Bone Marrow Failure Syndrome 1 |
|
Bone marrow hypocellularity, Myelodysplasia |
OMIM:614675 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
| Cryoglobulinemia, Familial Mixed |
|
Hypertension |
OMIM:123550 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction |
OMIM:208000 |
| Cysticercosis |
|
Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
| Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Hypertension, Pheochromoc... |
ORPHA:805 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Heart murmur, Abnor... |
ORPHA:391665 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Inguinal hernia, Hypertension, Mitral regurgitation, Camptodactyly, Umbilic... |
OMIM:611962 |
| Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Elevated cir... |
ORPHA:116 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal dental ename... |
ORPHA:221016 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Flexi... |
OMIM:300868 |
| Mevalonic Aciduria |
|
Increased circulating IgD level, Skin rash, Morbilliform rash |
OMIM:610377 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Ogden Syndrome |
|
Inguinal hernia, Short stature, Maternal diabetes, Cardiomegaly, Postnatal growth retardation, Mi... |
OMIM:300855 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Myelodysplasia |
OMIM:619041 |
| Arima Syndrome |
|
Hepatomegaly, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
| Aceruloplasminemia |
|
Diabetes mellitus, Congestive heart failure, Abnormal pancreas morphology, Hepatic fibrosis, Cirr... |
ORPHA:48818 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension |
ORPHA:98850 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... |
ORPHA:100026 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Pancreati... |
ORPHA:544482 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marrow hypocellularity, Myelodysplasia |
ORPHA:86841 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,... |
ORPHA:139411 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Retinal telangiectasia, Optic atrophy, Osteoporosis, Increased susceptibility to frac... |
OMIM:612199 |
| Wagro Syndrome |
|
Hypertension, Obesity |
OMIM:612469 |
| Refractory Anemia |
|
Single lineage myelodysplasia, Bone marrow hypocellularity, Myelodysplasia |
ORPHA:98826 |
| Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension, Hypoglycemia |
ORPHA:173 |
| Myhre Syndrome |
|
Inguinal hernia, Femoral hernia, Precocious puberty, Hypertension, Hypogonadism |
ORPHA:2588 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia, Hepatocellular carcinoma |
ORPHA:79276 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Increased circulating antibody level, Osteolysis, Increased susce... |
ORPHA:77261 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Myasthenia Gravis |
|
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... |
ORPHA:589 |
| Mosaic Trisomy 9 |
|
Asplenia, Cryptorchidism, Abnormal liver lobulation, Camptodactyly of finger |
ORPHA:99776 |
| Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypoglycemic seizures, Ketotic hypoglycemia, Hypotension |
ORPHA:361 |
| Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Orthostatic hypotension, Hypoglycemia, Hypotension |
ORPHA:199299 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Hypolysinemia, Increased circulating ferritin concentration, Splenom... |
OMIM:222700 |
| Marshall-Smith Syndrome |
|
Omphalocele, Premature ventricular contraction, Hypertension, Pulmonary arterial hypertension, De... |
OMIM:602535 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation... |
OMIM:181000 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Peritonitis, Elevated circulating creatinine concentration, ... |
ORPHA:90038 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Osteoporosis, Hepatic necrosis, Squamous cell carcinoma of the skin, Bone marrow ... |
OMIM:127550 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Fused cervical ver... |
OMIM:609053 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
| Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
| Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Multiple lipomas, Hypertension, Breast aplasia, Supraventricular tachyc... |
OMIM:181270 |
| Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Hypertension, Ovarian cyst, Hepatic fibrosis, Enamel hypoplasia, Hepatic cysts |
OMIM:311200 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis, Bone marrow hypocellularity, Osteoporosis |
OMIM:224230 |
| Viss Syndrome |
|
Joint laxity, Chronic gastritis, Recurrent joint dislocation, Eczema, Generalized joint laxity, I... |
OMIM:619472 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Bone marrow hypocellularity |
OMIM:616435 |
| Vici Syndrome |
|
Decreased circulating IgG level, Decreased T cell activation, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
| Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Craniosynostosis, Decreased circulating total IgM, Decreased circulating IgG level, Delayed crani... |
OMIM:620005 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Fever, Failure to thrive, Overweight, Abnormal abdomen morphology,... |
OMIM:619475 |
| Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
| Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction, Delayed puberty |
OMIM:208060 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Contractures of the large joints, Cardiomyopathy, Hy... |
ORPHA:580 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... |
OMIM:607944 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Camptodactyly of finger, Splenomegaly, Flexion contracture, Heart murmur, Hepato... |
ORPHA:217085 |
| Gaucher Disease |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recurrent fractures... |
ORPHA:355 |
| Orofaciodigital Syndrome Type 1 |
|
Abnormal dental enamel morphology, Pancreatic cysts, Abnormality of the pancreas, Hypertension, E... |
ORPHA:2750 |
| Alveolar Echinococcosis |
|
Increased circulating antibody level, Cholangitis, Cutaneous abscess |
ORPHA:284 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
| Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... |
OMIM:115310 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Camptodactyly of finger, Splenomegaly, Flexion contracture, Heart murmur, Hepato... |
ORPHA:217093 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Radial dysplasia |
OMIM:617244 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Exudative retinopathy, Osteoporosis, Bone marrow hypocellularity |
OMIM:613990 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension |
OMIM:301050 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Hallermann-Streiff Syndrome |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
| Al Amyloidosis |
|
Increased circulating antibody level |
ORPHA:85443 |
| Digeorge Syndrome |
|
Hepatic steatosis, Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating p... |
OMIM:188400 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Hyperuricemia, Hypotension |
OMIM:174000 |
| Williams-Beuren Syndrome |
|
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertens... |
OMIM:194050 |
| Apert Syndrome |
|
Hypertension, Ovarian neoplasm |
ORPHA:87 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Hepatomegaly, Liver abscess, Cellulitis |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Hepatomegaly, Liver abscess, Cellulitis |
OMIM:233710 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, Failure to thrive, Bone marrow hypocellularity, Large for gestational age |
OMIM:614520 |
| Scalp-Ear-Nipple Syndrome |
|
Type I diabetes mellitus, Hypertension, Breast aplasia |
ORPHA:2036 |
| Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
| Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Decreased serum iron, Jaundice, Increased blood urea n... |
ORPHA:447 |
| Blau Syndrome |
|
Hypertension, Pericarditis, Flexion contracture of toe, Camptodactyly of finger |
OMIM:186580 |
| Somatomammotropinoma |
|
Diabetes mellitus, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperten... |
ORPHA:314769 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Hepatomegaly, Liver abscess, Cellulitis |
OMIM:233690 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Cryptorchidism |
OMIM:613834 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Retinal atrophy, Abnormal retinal morphology, Recurrent fractures, Optic atrophy, B... |
ORPHA:2785 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Retinal hemorrhage, Bone marrow hypocellul... |
ORPHA:86839 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Hypoglycemia, Myocardial infarction, Hypovolemia, Hypotension |
ORPHA:95409 |
| Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Hypothyroidism, Hypogo... |
ORPHA:904 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
| Aplastic Anemia |
|
Bone marrow hypocellularity |
OMIM:609135 |
| Papillorenal Syndrome |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:120330 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypothyroidism, Hypotension |
ORPHA:93256 |
| Hennekam-Beemer Syndrome |
|
Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
| Lymphoid Interstitial Pneumonia |
|
Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... |
ORPHA:79128 |
| Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Precocious puberty, Multiple lipomas, Hypertension, Pheochro... |
ORPHA:636 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Abnormality of the spleen, Hypothyroidism, Dilated cardiomyopathy, Obesi... |
ORPHA:1606 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Bone marrow hypocellularity |
OMIM:618674 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal denta... |
ORPHA:567 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Hypotension |
ORPHA:90791 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Decreased response to grow... |
OMIM:619503 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Biliary hyperplasia, Contracture of the distal interphalangeal joi... |
ORPHA:83617 |
| Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis |
OMIM:613987 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
| Acromegaly |
|
Diabetes mellitus, Elevated circulating growth hormone concentration, Hypertension, Mitral regurg... |
ORPHA:963 |
| Myhre Syndrome |
|
Small for gestational age, Obesity, Hypertension, Camptodactyly, Aortic valve stenosis |
OMIM:139210 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Flexion contracture, Elbow flexion contracture, Kn... |
OMIM:210710 |
| Au-Kline Syndrome |
|
Hypertension, Failure to thrive |
OMIM:616580 |
| Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
| Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypertension, Hypophosphatemia |
OMIM:104200 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
| Blau Syndrome |
|
Pericarditis, Camptodactyly of finger, Splenomegaly, Large vessel vasculitis, Hypertension, Abnor... |
ORPHA:90340 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Pa... |
OMIM:219700 |
| Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
| Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Osteoporosis, Opti... |
OMIM:305000 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Myelodysplasia, Decreased circulating antibody level |
OMIM:619767 |
| Hellp Syndrome |
|
Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
| Dextrocardia |
|
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
| Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Hypergonadotropic hypogonadism, Flexion contracture, Bone marrow hypoc... |
OMIM:227645 |
| Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis |
ORPHA:1358 |
| Familial Osteodysplasia, Anderson Type |
|
Hypertension, Hyperuricemia |
ORPHA:2769 |
| Renal Agenesis |
|
Hypertension |
ORPHA:411709 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Short stature, Elevated circulating aspartate... |
OMIM:243800 |
| Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Adrenal calcification, Failure to thrive in infancy, Retinal hemorrhag... |
ORPHA:51608 |
| Addison Disease |
|
Type I diabetes mellitus, Orthostatic hypotension, Hypoglycemia, Hypotension |
ORPHA:85138 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
| Alport Syndrome |
|
Hypertension |
ORPHA:63 |
| Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
| Hoyeraal-Hreidarsson Syndrome |
|
Neoplasm, Failure to thrive, Bone marrow hypocellularity |
ORPHA:3322 |
| Alkaptonuria |
|
Hypertension, Myocardial infarction |
ORPHA:56 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent hypoglycemia, Hypotension |
ORPHA:293978 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Bone marrow hypocellularity, Squamous cell carcinoma of the tongue |
OMIM:613988 |
| Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
| Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Decreased circulating copper concentration, Subarachnoid h... |
ORPHA:139417 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Hypovolemia, Hypotension |
ORPHA:168558 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Panniculitis, B lymphocytopenia, Bone marrow hypocellularity, Myelodysplasia |
ORPHA:508542 |
| Neurofibromatosis, Type I |
|
Parathyroid adenoma, Hypertension, Pheochromocytoma |
OMIM:162200 |
| Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Hypovolemia, Hypotension |
ORPHA:289548 |
| Prolactinoma |
|
Hypotension |
ORPHA:2965 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Failure to thrive, Bone marrow hypocellularity |
OMIM:616353 |
| Adams-Oliver Syndrome 1 |
|
Supernumerary nipple, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aortic va... |
OMIM:100300 |
| Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
| 17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, ... |
ORPHA:97685 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension, Enamel hypoplasia, Neonatal hyperbilirubinemia |
OMIM:300896 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Hypergonadotropic hypogonadism, Bone marrow hypocellularity, Attention... |
OMIM:227646 |
| Yunis-Varon Syndrome |
|
Renovascular hypertension, Hypertension, Cardiomyopathy, Severe failure to thrive, Pulmonary arte... |
ORPHA:3472 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Bone marrow hypocellularity |
ORPHA:88 |
| Leukocyte Adhesion Deficiency |
|
Vaginitis, Peritonitis, Nail dystrophy, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Vertebral fusion, Increased circulating IgE level, Camptodactyly of f... |
ORPHA:373 |
| Pierson Syndrome |
|
Hypertension, Hypoproteinemia, Retinal hemorrhage |
OMIM:609049 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Cryptorchidism, Hypertension, Umbilical hernia, Corneal neovascular... |
OMIM:308205 |
| Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
| Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Hypoglycemia, Intracranial hemorrhage, Hypotension |
ORPHA:90062 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Hyperextensible hand joints, Secretory IgA deficiency, Metopic synosto... |
ORPHA:500150 |
| Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension |
ORPHA:536 |
| Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Cigarette... |
ORPHA:286 |
| Non-Acquired Panhypopituitarism |
|
Hypoglycemia, Hypotension |
ORPHA:90695 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Neonatal hypoglycemia, Hypovolemia, Hypotension |
ORPHA:90794 |
| Renal Dysplasia |
|
Hypertension |
ORPHA:93108 |
| Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
| Plague |
|
Hematemesis, Tachycardia, Arrhythmia, Hypotension |
ORPHA:707 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypoglycemia, Hypotension |
ORPHA:95494 |
| Bartter Syndrome, Type 1, Antenatal |
|
Low-to-normal blood pressure |
OMIM:601678 |
