Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Episod... |
ORPHA:324575 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Episodic hyperhidrosis, Hypoglycemic seizures, Fasting hypoglycemia, E... |
ORPHA:276575 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hypoglycemic seizures, Fast... |
ORPHA:276580 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidros... |
ORPHA:276556 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Hypotension, Attention defi... |
ORPHA:369873 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... |
ORPHA:79084 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Go... |
OMIM:610947 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin resis... |
ORPHA:411593 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... |
OMIM:615980 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Anti-thyroid peroxidase antibody positivity, Hyperhidrosis, I... |
ORPHA:525731 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent ear infections, Recurrent pneumonia, Recurrent upper respirator... |
OMIM:614962 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis |
OMIM:620195 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea |
OMIM:619398 |
Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Helicobacter pylori infection, Small fo... |
ORPHA:275555 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infect... |
OMIM:300635 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Elev... |
OMIM:619386 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... |
OMIM:612526 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Hepatic steatosis, Hepat... |
OMIM:613327 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... |
ORPHA:79083 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... |
OMIM:610717 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit... |
ORPHA:528 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Autoimmunity, Insulin resistance, Insulin... |
ORPHA:79086 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, ... |
ORPHA:37042 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
OMIM:151660 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Agita... |
ORPHA:276608 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... |
OMIM:608971 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Diabetes mellitus, Cholangitis, Ov... |
ORPHA:69663 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas |
ORPHA:2398 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Secondary Short Bowel Syndrome |
|
Villous atrophy, Low plasma citrulline, Abnormal blood ion concentration, Sepsis, Vomiting, Abnor... |
ORPHA:95427 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... |
ORPHA:2298 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis |
OMIM:246650 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, ... |
ORPHA:79312 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Overlap Myositis |
|
Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat... |
ORPHA:206572 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute... |
OMIM:608594 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... |
OMIM:613501 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... |
OMIM:619164 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Acute Lung Injury |
|
Shock, Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatiti... |
ORPHA:178320 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... |
OMIM:614372 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:2348 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Abnormal lung morphology, Sepsis, Glossoptosis, Conjunctivitis, Hypocalcemia, Neutrope... |
ORPHA:47 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,... |
ORPHA:70578 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute... |
OMIM:269700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... |
OMIM:618805 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Diabetes mellitus, Recurrent infections, Progressive lo... |
OMIM:608709 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Cholangitis, Recurrent viral infections, Colitis, Neutropenia, Infectious enceph... |
OMIM:209920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Apnea,... |
OMIM:619048 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... |
OMIM:613101 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator... |
OMIM:607616 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Autoimmunity, Insulin resistance, Lymphocytosis, Hepatic steatosis |
ORPHA:79087 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... |
ORPHA:77296 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Feeding difficulties, Intermittent diarrhea, Hypertr... |
OMIM:620270 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased... |
ORPHA:443811 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, ... |
OMIM:222100 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Sepsis, Conjunctivitis, High palate, Cough, Neutropenia, Chronic otitis media, Meningi... |
ORPHA:33110 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Idiopathic Achalasia |
|
Bronchitis, Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decre... |
ORPHA:930 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... |
ORPHA:47612 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Apnea, Poor appetite, Feeding difficulties in i... |
OMIM:606054 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... |
OMIM:301033 |
Legionnaires Disease |
|
Anorexia, Abnormal lung morphology, Sepsis, Cough, Infectious encephalitis, Hyponatremia, Abdomin... |
ORPHA:549 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Anorexia, Elevated circulating C-reactive protein concentration, Seve... |
ORPHA:48435 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurre... |
OMIM:620282 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... |
OMIM:616050 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... |
ORPHA:247585 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Fee... |
ORPHA:26792 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Whipple Disease |
|
Myositis, Myocardial infarction, Anorexia, Uveitis, Cough, Hypothyroidism, Infectious encephaliti... |
ORPHA:3452 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hyp... |
ORPHA:79259 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... |
ORPHA:264580 |
Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Poor appetite, Adipose tissue loss, Severe varicella zoster infecti... |
ORPHA:125 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia... |
OMIM:620085 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hypoglycemia, Cerebellar hemorrhage, ... |
OMIM:251000 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... |
ORPHA:36238 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction |
OMIM:108725 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity |
OMIM:612227 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Feeding difficulties in infancy, Polyphagia, Obesity, Attention deficit hype... |
ORPHA:261229 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Hepatom... |
ORPHA:280365 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... |
ORPHA:183675 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... |
OMIM:616740 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... |
ORPHA:98813 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam... |
ORPHA:563 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Maternally-Inherited Diabetes And Deafness |
|
Malabsorption, Congestive heart failure, Hypertension, Constipation, Type II diabetes mellitus, A... |
ORPHA:225 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Severe varicella zoster infection, Recurrent... |
ORPHA:397596 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B... |
OMIM:607594 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Recur... |
OMIM:619573 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Huntington Disease |
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Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Abnormal int... |
OMIM:606528 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... |
OMIM:617006 |
Autosomal Dominant Severe Congenital Neutropenia |
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Aplastic anemia, Recurrent viral infections, Periodontitis, Neutropenia, Recurrent ear infections... |
ORPHA:486 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Anhidrosis, Membranoproliferative glomerulonephritis, Hypercalcemia, Abnormal dental enamel morph... |
ORPHA:251004 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Neonatal sepsis, Small for gestational age, Apnea, Abdominal distention, Per... |
ORPHA:391673 |
Narcolepsy Type 1 |
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Syncope, Obesity |
ORPHA:2073 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... |
OMIM:615381 |
Sepsis In Premature Infants |
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Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Elevated circu... |
ORPHA:90051 |
Diarrhea 13 |
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Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... |
OMIM:620357 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Schimke Immuno-Osseous Dysplasia |
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Impaired T cell function, Neutropenia, Minimal change glomerulonephritis, Decreased proportion of... |
ORPHA:1830 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple... |
OMIM:603552 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym... |
ORPHA:158057 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Infection-Related Hemolytic Uremic Syndrome |
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Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Recurrent infections,... |
OMIM:615285 |
Alpha-Heavy Chain Disease |
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Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal... |
ORPHA:100025 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Autoimmunity, Large for gestational age, Increased circulating free fatt... |
ORPHA:293964 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Maturity-onset diabetes of the young, Precocious puberty, Obesity, Feeding difficulties, High pal... |
ORPHA:254531 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Poor suck, Feeding diffi... |
OMIM:615547 |
Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Impaired T cell function, Autoimmunity, Splenomegaly, Diarrhea, Recurrent pneumonia... |
OMIM:240500 |
Glycogen Storage Disease Ib |
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Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
Seckel Syndrome 10 |
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Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:c... |
OMIM:121300 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevat... |
OMIM:617872 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Inguinal hernia, Recurrent upper... |
OMIM:300209 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... |
ORPHA:911 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... |
OMIM:209950 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... |
OMIM:613179 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Leukocytosi... |
ORPHA:90065 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ul... |
OMIM:617638 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... |
ORPHA:169160 |
Dietary Iron Overload Disease |
|
Hepatic fibrosis, Elevated hepatic iron concentration, Hepatic steatosis, Hepatomegaly, Chronic i... |
ORPHA:139507 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Recurrent viral infections, Increased circulating IgG level, Disseminated molluscum contagiosum, ... |
OMIM:243700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
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Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Immunodeficiency 60 And Autoimmunity |
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Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... |
OMIM:618394 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... |
ORPHA:98850 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ... |
OMIM:212140 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Adenocarcinoma Of The Esophagus |
|
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob... |
ORPHA:99976 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa... |
OMIM:308230 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi... |
ORPHA:171 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia, Secretory diarrhea, Hypertension, ... |
OMIM:616069 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... |
ORPHA:31825 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Autoimmunity, Paraproteinemia, Elevated ... |
ORPHA:329918 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Feeding difficulties in infancy, Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... |
ORPHA:2137 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmunity, Aut... |
OMIM:614470 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... |
OMIM:300400 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Angina pectoris, Acu... |
ORPHA:412 |
Immunodeficiency 23 |
|
Rheumatoid factor positive, Recurrent staphylococcal infections, Severe varicella zoster infectio... |
OMIM:615816 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo... |
OMIM:615863 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Hyperammone... |
OMIM:620137 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Gaisböck Syndrome |
|
Myocardial infarction, Increased circulating renin level, Cholecystitis, Overweight, Hypovolemia,... |
ORPHA:90041 |
Immunodeficiency 7 |
|
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Spleno... |
OMIM:615387 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent respiratory infections, Increased circulating IgM level, Recurrent bacterial infections... |
OMIM:605258 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, High palate, Aggressive behavior, Overfriendliness |
OMIM:618010 |
Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Nasogastric tube feeding in infancy, Xeros... |
ORPHA:739 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Feeding difficulties in infancy, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Sepsis, Paralytic il... |
ORPHA:810 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Thrombocytopenia |
OMIM:189800 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Neonatal a... |
ORPHA:79237 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hypoalbuminemia, Hepati... |
ORPHA:79319 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Skin rash, Autoimmunity, Recurrent viral infections, Recurrent m... |
ORPHA:275 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... |
ORPHA:391487 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Antinuclear antib... |
OMIM:301080 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chro... |
ORPHA:1163 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Feeding difficulties in infancy, Obesity, Self... |
OMIM:613670 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain |
OMIM:118830 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... |
ORPHA:65682 |
Bronchial Neuroendocrine Tumor |
|
Anorexia, Poor appetite, Nonproductive cough, Hepatomegaly, Tricuspid regurgitation, Bowel urgenc... |
ORPHA:97287 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Feeding di... |
OMIM:606407 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... |
OMIM:615688 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Apnea, Neutropenia, Bronchiectasis, Hyperammonemia, Resp... |
OMIM:618253 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Neonatal sepsis, Fatal liver failure in infancy, Failure to thrive... |
ORPHA:263501 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:98793 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
6Q16 Microdeletion Syndrome |
|
Poor suck, Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jau... |
ORPHA:75234 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash... |
OMIM:617591 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Pyloric sten... |
ORPHA:96184 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Acne, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Hyper... |
OMIM:615830 |
Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... |
OMIM:615767 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:177904 |
Immunodeficiency 70 |
|
Furuncle, Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:98754 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:177901 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Rheumatoid factor positive, Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Hepatospl... |
OMIM:618935 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Glucose intolerance, Vomiting, Decreased adipose tissue around n... |
OMIM:606721 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Lymphopenia, Autoimmuni... |
ORPHA:277 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Feeding difficulties in infancy, Fasting hyperinsulinemia, Hepatic necrosi... |
ORPHA:71212 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... |
OMIM:604416 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
Takayasu Arteritis |
|
Increased inflammatory response, Myocardial infarction, Anorexia, Vasculitis, Weight loss, Hyperh... |
ORPHA:3287 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficien... |
OMIM:182290 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Abdominal pain, Recurrent pancreatitis, Type II diabetes melli... |
OMIM:619290 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... |
ORPHA:900 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... |
ORPHA:26790 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Autoimmunity, Elevated circulating creatinine concentration, Synov... |
ORPHA:567544 |
Familial Chylomicronemia Syndrome |
|
Nausea and vomiting, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embol... |
ORPHA:444490 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hyp... |
ORPHA:79644 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... |
OMIM:229050 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Celiac disease, D... |
OMIM:615952 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... |
ORPHA:101330 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... |
ORPHA:36382 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Anorexia, Tachypnea, Leukopenia, Recurrent hypoglycemia, Hepatomegaly, Leukocytosis, Dilat... |
ORPHA:20 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... |
ORPHA:26793 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Antineutrophil antib... |
OMIM:301078 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis, Hypogonadism, Rec... |
OMIM:615993 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... |
OMIM:616100 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Compulsive behav... |
ORPHA:398069 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Kleine-Levin Syndrome |
|
Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... |
ORPHA:33543 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Maternal diabetes, Severe infection, Jaundice, Sepsis, Neutropenia in presence of anti... |
ORPHA:464370 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Nausea and vomiting, Thrombocytopenia, Sepsis, Hyperammonemia... |
ORPHA:289916 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatic steatosis, Pericarditis, Hepatomegaly, Acute pancreatitis,... |
OMIM:619487 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Prader-Willi syndrome (Type 1) |
|
Feeding difficulties in infancy, Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Feeding difficulties in infancy, Truncal obesity, Hypogonadism |
DECIPHER:53 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Odynophagia, U... |
ORPHA:99826 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... |
ORPHA:36234 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... |
OMIM:616433 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Cardiorespiratory ... |
ORPHA:188 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... |
ORPHA:3261 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Premature pubarche, Hypogonadotropic hypogonadism, Precocious p... |
ORPHA:398079 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Vomiting, Hepatomegaly, Elevated circulating ... |
ORPHA:26791 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Feeding difficulties, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Anti-t... |
OMIM:274300 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Thrombocytosis, Anorexia, Diarrhea, Tachypnea, Leukocytosis, Hyperamm... |
ORPHA:134 |
Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe... |
ORPHA:158048 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k... |
OMIM:201475 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Anti-GAD65 antibody, Hyperinsulinemi... |
OMIM:616033 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Meningitis, Leukocy... |
ORPHA:292 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Diarrhea, Arthritis... |
OMIM:601457 |
Rhabdoid Tumor |
|
Nausea and vomiting, Hypercalcemia, Poor appetite, Abdominal pain, Thrombocytopenia, Respiratory ... |
ORPHA:69077 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Multiple lipomas |
ORPHA:1879 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Hypohidrosis, Truncal obesity,... |
ORPHA:633 |
X-Linked Acrogigantism |
|
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... |
ORPHA:300373 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Acne, Biliary tract abnormality, Obesity, Respiratory insufficiency, Type II dia... |
ORPHA:3191 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Abnormal pancreas morphology,... |
ORPHA:2849 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hepa... |
ORPHA:398124 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hemolytic anemia, Epistaxis, Ele... |
OMIM:614034 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Anti-thyroid peroxidase antibody positivity, Hypothyroidism, ... |
ORPHA:228426 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... |
OMIM:619705 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abdominal distention, Hyperlipidemia, ... |
ORPHA:369 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Respiratory failure, Gastroesophageal reflux, Decreased liver function,... |
ORPHA:70472 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... |
OMIM:620321 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Neonatal insuli... |
ORPHA:1667 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... |
OMIM:300148 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... |
OMIM:617718 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Feeding difficulties in i... |
OMIM:619013 |
Gitelman Syndrome |
|
Respiratory distress, Maternal diabetes, Hyperhidrosis, Tubulointerstitial nephritis, Glucose int... |
ORPHA:358 |
Idiopathic Bronchiectasis |
|
Cachexia, Myocardial infarction, Respiratory tract infection, Dyspnea, Wheezing, Crackles, Produc... |
ORPHA:60033 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Myocardial infarction, Hyperhomocystinemia, Disproportionate tall stature, High ... |
OMIM:236200 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency... |
ORPHA:27 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... |
OMIM:612692 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai... |
ORPHA:67 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hepatic steatosis, Hyper... |
ORPHA:247598 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Lymphopenia, Persistent CMV viremia, Autoimmune thr... |
OMIM:617514 |
Whim Syndrome 2 |
|
Severe infection, Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Thyroid hypoplasia, Goiter, Feedi... |
ORPHA:90674 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Gout,... |
OMIM:232200 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration, Nephritis |
OMIM:161900 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:98853 |
Craniopharyngioma |
|
Nausea and vomiting, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Myocardial infarcti... |
ORPHA:54595 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Elevated circulati... |
OMIM:619632 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... |
ORPHA:35878 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Respi... |
ORPHA:2686 |
Epidermolysis Bullosa Acquisita |
|
Atypical scarring of skin, Inflammation of the large intestine, Diabetes mellitus, Abdominal pain |
ORPHA:46487 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Bronchitis, Abnormality of the spleen, Lymphadenitis,... |
ORPHA:2552 |
Graft Versus Host Disease |
|
Myositis, Fasciitis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Dupuytren ... |
ORPHA:39812 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:98855 |
Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Anorexia, Abnormal left ventricular function, A... |
ORPHA:781 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... |
ORPHA:275761 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Flexion contracture, Elevated circulating creati... |
OMIM:616733 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Eczema, Obesity |
ORPHA:3055 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusua... |
ORPHA:449280 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Necrotizing enterocolitis, Inguinal hernia, Elevated circulating creatine kinase... |
OMIM:616809 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... |
ORPHA:98863 |
Pseudohypoparathyroidism Type 1A |
|
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... |
ORPHA:79443 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Tachypnea, Hyperhomocystinemia, Feedi... |
OMIM:614857 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma |
ORPHA:882 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Respiratory distress, Intestinal perforation, Sepsis, Conjunctivitis, Coug... |
ORPHA:537 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Abdominal symptom, Hypergonadotropic hypogonadism, Decreased r... |
ORPHA:79444 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Autoimmunity, Aggressive behavior, Hypothyroid... |
ORPHA:449291 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... |
OMIM:619752 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracran... |
ORPHA:3260 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II diab... |
ORPHA:401923 |
Riboflavin Transporter Deficiency |
|
Cachexia, Aggressive behavior, Respiratory insufficiency, Hypertension, Hypogonadism, Dysphagia, ... |
ORPHA:97229 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle... |
ORPHA:141152 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... |
ORPHA:767 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations |
ORPHA:488650 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... |
OMIM:150550 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating c... |
OMIM:212138 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Abdominal distention, Hyperinsulinemia, Cholestasis, Rec... |
OMIM:246200 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... |
OMIM:540000 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... |
OMIM:557000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Insulin resistance, Diarrhea, Eleva... |
ORPHA:230 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial... |
ORPHA:330015 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Recurrent ear infections, Gastroesophageal reflux, ... |
ORPHA:300536 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Obesity, Overgrowth, Recurrent otitis media, Polyphagia |
OMIM:616831 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Congenital portosystemic venous shunt, Hypergalactosemia, Decr... |
OMIM:601466 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegal... |
OMIM:612541 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Bronchiolitis, Reduction of neutrophil motility, Periodontitis, Compulsi... |
OMIM:266265 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
48,Xxyy Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal denta... |
ORPHA:10 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... |
OMIM:615559 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... |
ORPHA:79301 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Congestive heart failure, S... |
OMIM:617303 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Sepsis, Conjunctivitis,... |
ORPHA:36426 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Cach Syndrome |
|
Flexion contracture, Nonketotic hyperglycinemia, Hepatosplenomegaly, Feeding difficulties, Optic ... |
ORPHA:135 |
Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin... |
ORPHA:542643 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Feeding difficulties, Hy... |
ORPHA:2169 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
H Syndrome |
|
Hypertriglyceridemia, Psoriasiform dermatitis, Lipodystrophy, Diabetes mellitus, Malabsorption, M... |
ORPHA:168569 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Increased adipose tissue, Congestive heart failure, Dyspnea, Dilated ca... |
ORPHA:1349 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ... |
ORPHA:42642 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Insulin resistance, Flexion contracture, Recurrent pneumonia, Elbow fl... |
OMIM:214150 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... |
ORPHA:439232 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Hyperactivity, Precocious puberty in females, Aggressi... |
ORPHA:72 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Hypoglycemia, Spider hemangioma, Chronic pancreatitis, Cyclic neutropen... |
OMIM:232240 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ... |
OMIM:601495 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute ... |
ORPHA:90038 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo... |
ORPHA:73272 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... |
OMIM:301045 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Respiratory insufficiency, Dysphagia |
OMIM:618230 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Elevated circulating C-reactive protein concentration, BCGosis, Hepatomega... |
OMIM:619644 |
Mirage Syndrome |
|
Adrenal hypoplasia, Sepsis, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Aspirat... |
OMIM:617053 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Werner Syndrome |
|
Telangiectasia of the skin, Lipodystrophy, Myocardial infarction, Lipoatrophy, Congestive heart f... |
ORPHA:902 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Autoimmunity, Subarachnoid hemorrhage, Extrapulmonary tuberculosis, Severe inf... |
ORPHA:494424 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, C3 nephritic factor positivity, Hypoalbuminemia, Myocardial infarction |
ORPHA:54370 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, High palate, Fasting hypoglycemia, Hypothyroidism, Precocious puberty, ... |
ORPHA:769 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent tonsillitis, Systemic lu... |
OMIM:613779 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Autoimmunity, Splenomegaly, Recurrent upper respiratory trac... |
OMIM:616005 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... |
OMIM:614699 |
Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom... |
OMIM:607624 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypoalbuminemia, Meningitis, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hep... |
OMIM:603553 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Rigid Spine Syndrome |
|
Hip contracture, Pneumonia, Cardiac conduction abnormality, Abnormality on pulmonary function tes... |
ORPHA:97244 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Constipation, Polyphagia,... |
ORPHA:228402 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... |
ORPHA:905 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Vomiting, Hepatic steatosis, Bifid uvula, Hep... |
OMIM:614921 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... |
OMIM:618963 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Poor appetite, Gastrointestinal dysmotility, Vomiting, Macrovesicular hepatic steatosis, Gastroes... |
ORPHA:298 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated creatine ... |
ORPHA:99901 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Prader-Willi Syndrome |
|
Hypoventilation, Recurrent respiratory infections, Failure to thrive in infancy, Decreased respon... |
OMIM:176270 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Productive cough, Chronic infecti... |
ORPHA:520 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Aca... |
ORPHA:71 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Multiple joint contractures, Small for g... |
ORPHA:2959 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Lymphadenitis, Inflammation of the large inte... |
OMIM:615895 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... |
ORPHA:79124 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Anorexia, Elevated circulating C-reactive protein ... |
ORPHA:49041 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Feeding d... |
ORPHA:819 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ul... |
OMIM:616744 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Transient ischemic attack, Small for gestational age, Abnormal immunoglobulin level... |
OMIM:242900 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Recurrent skin infections, Decreased serum iron, Overweight, Repetitive compul... |
ORPHA:391372 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic failure, Diarrhea, Hypoalbuminemia, Hepatic fibrosis, Cirr... |
OMIM:602579 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... |
ORPHA:79126 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Anemia |
OMIM:603278 |
Placental Insufficiency |
|
Antiphospholipid antibody positivity, Small for gestational age, Insulin resistance, Abnormal lun... |
ORPHA:439167 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased circulating IgG level, Increased proportion autoreactive unresponsive CD21-/low B cells... |
OMIM:618534 |
Sneddon Syndrome |
|
Antiphospholipid antibody positivity, Cerebral hemorrhage, Decreased circulating total IgM, Hyper... |
OMIM:182410 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ... |
ORPHA:565612 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity |
ORPHA:85274 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory distress, Tachycardia, Respiratory failur... |
ORPHA:264675 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Sepsis, Hashimoto thyroiditis,... |
ORPHA:199299 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Obesity |
OMIM:300577 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hypoglycemic seizures, Vomi... |
ORPHA:361 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Neutropenia, Hypoxemia, Cellulitis, Abnormal pl... |
ORPHA:238459 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Stiff Skin Syndrome |
|
Hypertension, Abnormal circulating lipid concentration, Lipoatrophy, Type II diabetes mellitus |
ORPHA:2833 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Recurrent viral infections, Leukopenia, T lym... |
OMIM:242840 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Sepsis, Vomiting, High palate, Hepatic steatosis, Accessory spl... |
OMIM:619418 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... |
OMIM:618398 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... |
OMIM:614602 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Paroxysmal Hemicrania |
|
Nausea and vomiting, Restless legs, Diabetes mellitus, Hypertension, Rhinitis, Rhinorrhea |
ORPHA:157835 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,... |
ORPHA:169079 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Large for gestational age, Respiratory insufficie... |
ORPHA:2432 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple... |
OMIM:603554 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... |
OMIM:614172 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... |
ORPHA:480520 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hepatic steatosis, Hyperactivity, Precocious puberty, Hyperlipidemia, Obesi... |
ORPHA:254346 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia, Thrombocytopenia |
OMIM:615750 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis,... |
ORPHA:99827 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
Monosomy 13Q34 |
|
Hypercalcemia, Epistaxis, Insulin resistance, Obesity, Hematochezia, Pulmonic stenosis, Hepatic s... |
ORPHA:96168 |
11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Congestive heart failure, Thrombocytopenia, Recurrent pneumonia, Flexion co... |
OMIM:616271 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... |
ORPHA:340 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Eczema, Aggressive behavior, Hypothyroidism, Obesity, Feeding difficulties, Self-i... |
OMIM:600430 |
Mehmo Syndrome |
|
Diabetes mellitus, Agitation, Obesity |
ORPHA:85282 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:614582 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Episodic abdominal pain, Hypertension, Hypo... |
ORPHA:330021 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, El... |
ORPHA:79284 |
Cebalid Syndrome |
|
High palate, Polyphagia, Congenital diaphragmatic hernia, Feeding difficulties |
OMIM:618774 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Bulimia, Obesity, Mitral regurgitation, Pulmonary arterial hype... |
OMIM:614651 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Obesity, High palate, Lipoma, Chronic otitis media |
ORPHA:480907 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg... |
ORPHA:45452 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Nausea, Protein avoidance, Increased circulating ferritin concentrat... |
OMIM:222700 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... |
OMIM:613496 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Bowel incontinence, Respiratory insufficiency due to musc... |
ORPHA:178478 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Neoplasm... |
ORPHA:251992 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... |
OMIM:610489 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Decreased circulating total IgM, Neutropenia, Enamel hypoplasia... |
ORPHA:2643 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue, Insulin resistance, H... |
ORPHA:199276 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension, Nephritis |
OMIM:613944 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Shortened QT interva... |
ORPHA:143 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Polymyositis |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Anorexia, Gastroesopha... |
ORPHA:732 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Feeding difficulties, Bloody diarrhea, Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steat... |
OMIM:615119 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic a... |
OMIM:615846 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... |
ORPHA:85450 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Incre... |
OMIM:608836 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Hepatomegaly, Abdominal pain, Restrictive ... |
ORPHA:36412 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Abnorma... |
ORPHA:70591 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... |
OMIM:618234 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis |
ORPHA:2111 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Skin rash, Megalob... |
OMIM:277380 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... |
ORPHA:64 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Elevated carcinoma antigen 125 level, Elevated cir... |
ORPHA:370348 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic ... |
OMIM:214900 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Anhidrosis, Hemolytic anemia, Pneumonia, Autoimmunity, Recurrent viral infections, ... |
ORPHA:169090 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Anorexia, Elevated circulating C-reactive protein conc... |
ORPHA:1304 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
High, narrow palate, Obesity, Feeding difficulties, Attention deficit hyperactivity disorder, Com... |
ORPHA:444002 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune he... |
OMIM:618495 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertension, Hypertrophic cardiomy... |
ORPHA:1345 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Respiratory distress, Hypoglycemia, Epi... |
ORPHA:348 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... |
ORPHA:91355 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, In... |
OMIM:209900 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attentio... |
ORPHA:210548 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Minimal change glomerulonephritis, Respiratory tract in... |
ORPHA:567548 |
Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Anemia, Delayed puberty |
ORPHA:52022 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Feeding difficulties in infancy, Flexion contracture, Hypoalbuminemia, Hepatic f... |
OMIM:212065 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... |
ORPHA:131 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth hormone stimul... |
ORPHA:1855 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Dilated cardiomyopathy, Hypogonadism, Obesity |
OMIM:615981 |
Refractory Anemia |
|
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... |
ORPHA:98826 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... |
OMIM:614069 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Tularemia |
|
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningi... |
ORPHA:3392 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Decreased re... |
OMIM:307200 |
Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Abnor... |
ORPHA:91139 |
Syndromic Diarrhea |
|
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypoplasia... |
ORPHA:84064 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesity, Feeding difficu... |
OMIM:619737 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... |
ORPHA:431361 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Autoimmunity, Dyspnea, Anti... |
ORPHA:99867 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Small for gestational age, Neutropenia, Hyperammonemia, Recurrent ... |
OMIM:615471 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... |
OMIM:615190 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Nausea, Congestive heart fail... |
ORPHA:94080 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... |
ORPHA:562639 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Hyperhidrosis, Vom... |
ORPHA:466677 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Esophageal stricture, Bronchiec... |
OMIM:615468 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Dela... |
ORPHA:412057 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Hypertension, Anemia |
ORPHA:1192 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... |
ORPHA:75233 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... |
OMIM:219700 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop... |
OMIM:618852 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Poor appetite, Heart block, Tachypnea, Increas... |
ORPHA:542323 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Abdominal colic, Anorexia, Nausea, Abdominal pain, Pa... |
ORPHA:521219 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Congenital diaphragmatic hernia, Obesity, Atopic... |
ORPHA:412035 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Feeding difficulties ... |
OMIM:248600 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, ... |
ORPHA:35858 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Vomiting |
OMIM:230350 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Sepsis, Hyperhidrosis, Vo... |
ORPHA:94093 |
Liddle Syndrome |
|
Hypertension, Hypokalemia, Cerebral ischemia, Constipation, Arrhythmia |
ORPHA:526 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Feeding difficulties, Cardiomyopathy... |
ORPHA:445038 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Inguinal hernia, Diabetes mellitus, Insulin resistance, Dilated cardiomyopathy, Trun... |
OMIM:616541 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Sepsis, Abnormal left ventricular function, Leukopenia, V... |
OMIM:619991 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... |
ORPHA:31205 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Adnp Syndrome |
|
Respiratory distress, Inguinal hernia, Recurrent urinary tract infections, Aggressive behavior, O... |
ORPHA:404448 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Behçet Disease |
|
Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Infectious encephalitis, Meningiti... |
ORPHA:117 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Hypoalbuminemia, Hypocalcemia, Vomiting, Cough, Gastroesophageal reflux, High palate, ... |
OMIM:613658 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp... |
ORPHA:247691 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Abdominal pain, Jaundice, Increased body weight, Res... |
ORPHA:890 |
Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Tachycardia, Scarring, Abdominal pain, Abnormal circ... |
ORPHA:79473 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity, Epistaxis |
ORPHA:46488 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Neutropenia |
OMIM:616949 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Anorexia, Adrenal... |
ORPHA:95409 |
Tako-Tsubo Cardiomyopathy |
|
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... |
ORPHA:66529 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, I... |
OMIM:301000 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia |
OMIM:245900 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
48,Xxxy Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Abnormal dental enamel morphology, Pulmonary e... |
ORPHA:96263 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Shortened QT interva... |
ORPHA:99880 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Reactive hy... |
OMIM:600955 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co... |
OMIM:617099 |
Tetanus |
|
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Bowel inco... |
ORPHA:3299 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties |
ORPHA:79238 |
Chung-Jansen Syndrome |
|
Impulsivity, Aggressive behavior, Obesity, Feeding difficulties, High palate, Attention deficit h... |
OMIM:617991 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties i... |
ORPHA:746 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Antiphospholipid antibody positivity |
ORPHA:820 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Myocardial... |
ORPHA:99889 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Polyphagia, Pineal cy... |
OMIM:615873 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Failure to thr... |
ORPHA:1572 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Recurrent ear infections, Aggressive behavior, Feeding difficulties, Self-injurious behavior, Mac... |
OMIM:156200 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Feeding difficulties in infancy, Recurrent upper respiratory tract infections, Incre... |
ORPHA:589905 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Raynaud p... |
OMIM:607944 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Hyperactivity, Neonatal respiratory distress, First degree atrioventricular ... |
ORPHA:589821 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Nausea and vomiting, Elevated circulating creatine kinase concentration, Dyspnea, Achilles tendon... |
OMIM:615418 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosi... |
OMIM:617052 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Poikiloderma With Neutropenia |
|
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopul... |
OMIM:604173 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Gastric varix, Cirrhosis |
OMIM:613490 |
Estrogen Resistance Syndrome |
|
Acne, Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperin... |
ORPHA:785 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Emphysema, Pulmonary carcinoid tumor... |
ORPHA:363618 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Short Syndrome |
|
Inguinal hernia, Lipoatrophy, Small for gestational age, Lipodystrophy, Insulin resistance, Absen... |
OMIM:269880 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Thrombo... |
OMIM:603585 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventric... |
OMIM:601005 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Recurrent infections, Hyperuricemia, Neutrop... |
OMIM:617056 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Anorexia, Leukopenia, Lymphocytosis, Neutr... |
ORPHA:50918 |
Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosis, Chronic diarrhea... |
ORPHA:39041 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Paradoxical increased cortisol secre... |
ORPHA:96253 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Telangiectasia of the skin, Autoimmunity, Malabsorption, Congestive heart fa... |
ORPHA:220393 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Recurrent pneumo... |
OMIM:301220 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypertension, Decreased DLCO, Pulmonary fibrosis, Glycosuria, Hypophosphatemic ... |
OMIM:618913 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Neonatal respiratory distress,... |
OMIM:260400 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Pyloric stenosis |
ORPHA:664 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Hemophag... |
ORPHA:79477 |
Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Leigh Syndrome |
|
Multiple joint contractures, Hypoglycemia, Eczema, Congestive heart failure, Hepatic failure, Gas... |
ORPHA:506 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Hyperte... |
OMIM:219090 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating ... |
ORPHA:94086 |
Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremi... |
OMIM:619652 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... |
OMIM:615962 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmona... |
ORPHA:79128 |
Senior-Loken Syndrome |
|
Hypertension, Congenital hepatic fibrosis |
ORPHA:3156 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Apnea, Low plasma citrulline, Elevated circulating alanine aminotrans... |
OMIM:261680 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Asthma, Atopic dermati... |
OMIM:618999 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Cirrhosis,... |
OMIM:601847 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Abscess, Autoimmunity, Thrombocytopenia, Diarrhea, Recurrent upp... |
OMIM:615758 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Diarrhea, Hypertension, Vomiting, Failure to thrive, Goiter |
OMIM:231690 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
Trisomy 18P |
|
High, narrow palate, Polyphagia, Pyloric stenosis, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Lact... |
OMIM:238600 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Lymphadenitis, Increased circulating ferritin concentration, Leukocyt... |
OMIM:618886 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating al... |
OMIM:218030 |
Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Vomiting, Cough, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Elevated circ... |
OMIM:615486 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... |
OMIM:214500 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... |
ORPHA:96182 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, Nephritis |
OMIM:161950 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity, Cleft palate, Bruxism |
ORPHA:289522 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive, Hypogonadism |
ORPHA:261483 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:228308 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Hyperhid... |
ORPHA:813 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Le... |
OMIM:613989 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Failure to thri... |
ORPHA:320 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Menin... |
ORPHA:342 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:618183 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... |
ORPHA:1303 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Recurrent infe... |
ORPHA:541423 |
Bloom Syndrome |
|
Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c, Recurrent upper respirator... |
OMIM:210900 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... |
ORPHA:723 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hepatic steatosis, Obesity |
OMIM:615996 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... |
OMIM:598500 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrh... |
ORPHA:2930 |
Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Vomi... |
ORPHA:550 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Abnormality of the pulmonary artery, Hepatic steatosis, ... |
ORPHA:79474 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Abdominal distention, Insulin resistance, Rect... |
ORPHA:508 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Elevated circu... |
OMIM:301500 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... |
OMIM:608233 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat... |
ORPHA:90060 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypocholest... |
ORPHA:14 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Flexion contracture, Interphalangeal thumb joint contracture,... |
OMIM:613870 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Pancytopenia, Feeding difficulties in... |
OMIM:251110 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... |
OMIM:617093 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjun... |
ORPHA:31204 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Melioidosis |
|
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Unusual skin in... |
ORPHA:31202 |
Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... |
OMIM:615207 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-rea... |
OMIM:613011 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Lymphop... |
OMIM:617575 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... |
ORPHA:91547 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ... |
ORPHA:731 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, I... |
ORPHA:99413 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Mosaic Monosomy X |
|
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, I... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, I... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, I... |
ORPHA:881 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead... |
OMIM:256810 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Increased circulating IgA level, Pyloric stenosis, Recurrent infe... |
OMIM:616395 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Intestinal pseudo-o... |
ORPHA:273 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
Pseudohypoaldosteronism Type 2 |
|
Nausea and vomiting, Hypertension, Hyperkalemia, Abnormal dental enamel morphology |
ORPHA:757 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Obesit... |
ORPHA:36397 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increase... |
OMIM:602450 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Thrombocytopenia |
ORPHA:401945 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Feeding difficulties in infancy, Steatorrhea, Neutropenia, Exocrin... |
OMIM:618752 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris |
OMIM:614025 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Poor appeti... |
ORPHA:3163 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, A... |
OMIM:607765 |
Clark-Baraitser Syndrome |
|
Hyperactivity, High palate, Obesity, Aggressive behavior |
OMIM:617752 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit... |
OMIM:611762 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Immunodeficiency 31C |
|
Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histoplasmosis, Recurrent vulvov... |
OMIM:614162 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Atopic dermatitis, Obesity |
ORPHA:397973 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Autoimmunity, Hyperhidrosis, Hypertension, Anemia |
OMIM:184850 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Respiratory insufficiency, Feeding difficulties, Res... |
OMIM:618329 |
Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardial contractility, Respiratory... |
ORPHA:79102 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal... |
ORPHA:85138 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449427 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc... |
ORPHA:508542 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Aggressive behavior, Malformation of the hepa... |
ORPHA:84081 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233710 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Insulin resistance, Obesity, T... |
ORPHA:91 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Abnormal intrahepatic bile duct mor... |
ORPHA:186 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... |
OMIM:612444 |
Polycystic Kidney Disease 5 |
|
Hypertension, Hepatosplenomegaly |
OMIM:617610 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, A... |
ORPHA:90363 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea, Hepatic fa... |
OMIM:235555 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Alexander Disease |
|
Nausea and vomiting, Diabetes mellitus, Sudden cardiac death, Bowel incontinence, Precocious pube... |
ORPHA:58 |
Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Feeding difficu... |
OMIM:216550 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Dyspnea, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Autoimmunity, Crackles, Elevated circulating C-reactiv... |
ORPHA:2902 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Respiratory distress, Hypoglycemia, Conjugated h... |
OMIM:617156 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... |
OMIM:615438 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Bronchitis, Recurrent viral infections, Otitis media, Decreased circ... |
ORPHA:420741 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Delayed puberty |
OMIM:301900 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
1P36 Deletion Syndrome |
|
Feeding difficulties in infancy, Abnormality of the spleen, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... |
ORPHA:251380 |
Nephroblastoma |
|
Abdominal pain, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hypertension |
ORPHA:654 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Respiratory distress, Hypogl... |
ORPHA:17 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... |
OMIM:233690 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Autoimmune thrombocytopenia, Increased LDL... |
ORPHA:77293 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac... |
ORPHA:1302 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Increased circu... |
OMIM:242860 |
Nephrotic Syndrome, Type 11 |
|
Minimal change glomerulonephritis, Dilated cardiomyopathy, Cleft palate, High palate, Hypoalbumin... |
OMIM:616730 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla... |
OMIM:275350 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, Recurrent infections, High p... |
OMIM:617941 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic necro... |
OMIM:231530 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Glomerulonephritis, Abdominal pain, Antinuclear antibo... |
ORPHA:93126 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Bowel incontinence, Hypertension, Constipation, Polydipsia |
ORPHA:2704 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal res... |
ORPHA:221139 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Cleft palate, Recurrent infections, Bifid uvula, Tall stature |
OMIM:618089 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Emphysema, Ac... |
ORPHA:324 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone... |
ORPHA:562 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Abdominal pain, Jaundic... |
ORPHA:676 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Meningitis, Paralytic ileus, Hypert... |
ORPHA:2912 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Overweight, Respiratory insufficie... |
ORPHA:486815 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Anisocytosis, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis, Decreased cir... |
OMIM:618278 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Small for gestational age, Hyperkalemia, Feeding dif... |
ORPHA:97362 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Cardiomyopathy, Hep... |
ORPHA:52430 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Apnea, Feeding difficulties in infancy, Acute hepatic steatos... |
OMIM:210200 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Hypoglycemia, Pulmonary embolism... |
ORPHA:79282 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Atopic dermatitis, Obesity |
OMIM:606772 |
Cirrhosis, Familial |
|
Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, E... |
OMIM:215600 |
Rafiq Syndrome |
|
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior |
OMIM:614202 |
Fanconi Anemia, Complementation Group G |
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Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Episodic hyperhidro... |
OMIM:223900 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Acne, Obesity |
OMIM:604931 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ... |
ORPHA:829 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Hypertens... |
OMIM:602088 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Nausea, Jaundice, Insulin-dependent but ketosis-res... |
ORPHA:103918 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... |
OMIM:618892 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Hypoglycemia, Feeding difficulties, Joint contracture, High palate, Neutropenia, Recurrent lower ... |
OMIM:618005 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Arrhythmia, Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr... |
ORPHA:90795 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Hyperuricemia, Cardiomyopathy |
ORPHA:3222 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Aggressive behavior, Obesity, Recurrent infections, Feeding difficulties, Chronic constipation |
OMIM:619056 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Feeding difficulties in infancy, Abdominal diste... |
ORPHA:226313 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... |
OMIM:619463 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Pancytopenia, Feeding difficulties in... |
OMIM:251100 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Tracheomalacia, Aggressive behavior, Bowel incontinence, Dyspne... |
ORPHA:261494 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... |
OMIM:613070 |
Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms, Anemia, Neutropenia |
OMIM:618067 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Hepatomegaly, Atelectasis, Recurrent E. coli... |
OMIM:306400 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Scarring, Diarrhea, Uveitis,... |
ORPHA:90321 |
Nephronophthisis 18 |
|
Hypertension, Tubulointerstitial nephritis, Portal fibrosis, Cholestasis |
OMIM:615862 |
Pituitary Apoplexy |
|
Hyponatremia, Nausea and vomiting, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:95613 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Birk-Landau-Perez Syndrome |
|
Neonatal respiratory distress, Failure to thrive in infancy, Hyperkalemia, Feeding difficulties, ... |
OMIM:617595 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... |
OMIM:619377 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Jaundice, Neutropenia, Feeding difficulties, Hypopnea, Respiratory failure, Bradycardia, D... |
OMIM:617248 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Thrombocytopenia, Ab... |
OMIM:230800 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increased circul... |
ORPHA:37748 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Hypertension, Transient hyperphenylalaninemia, Rheumatoid arthr... |
ORPHA:98808 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... |
ORPHA:94065 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, S... |
ORPHA:3226 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein concentr... |
OMIM:613095 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... |
ORPHA:2590 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity, Dysphagia |
OMIM:604360 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Diarrhea, Increased hepatic glycogen content |
OMIM:261750 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pa... |
ORPHA:3386 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abdominal ... |
ORPHA:2357 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Retinal hemorrhage, Re... |
ORPHA:88 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly... |
ORPHA:447 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Tachycardia, Nausea and vomiting, Abdominal pain, Abdominal distentio... |
ORPHA:79276 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Steatorrhea, Recurrent infections, Feeding difficul... |
OMIM:618268 |
Bardet-Biedl Syndrome |
|
Obesity, Hypertension, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis |
ORPHA:110 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Intestinal obstruction, ... |
OMIM:600802 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Feeding difficulties, Constipation, Compulsive behav... |
OMIM:618430 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Feeding difficulties, Trun... |
ORPHA:3041 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste... |
OMIM:611126 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4... |
ORPHA:449400 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Attention deficit hyperactivity diso... |
OMIM:619971 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,... |
ORPHA:369837 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... |
OMIM:242700 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Diarrhea, Tachypnea, Hyperhidrosis, Hypertension, Agitation, Hypotensi... |
ORPHA:43116 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Poor appetite, Insulin resistance, Right bundle branch block... |
OMIM:619322 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Respiratory insufficiency due to muscle weakness, Vomiting, Decreased liver functio... |
ORPHA:436271 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Feeding difficulties in infancy, Nasogastric tube feeding in i... |
ORPHA:251028 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Obesity, Chronic constipation, Hyperuricemia, Attention deficit hyperactiv... |
ORPHA:261222 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hypoglycemia, Hyperlipidemia, Recurrent infections, Hyperuricemia |
ORPHA:364 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Congenital diaphragmatic hernia |
OMIM:166300 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypertens... |
OMIM:610965 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Vomiting, Pulmonary hypoplasia, Glyco... |
OMIM:231680 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Galloway-Mowat Syndrome 7 |
|
Eczema, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cleft palate, High palate, Hyp... |
OMIM:618348 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Panc... |
OMIM:145981 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity |
OMIM:614845 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ... |
OMIM:211600 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia |
OMIM:611489 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Obesity, Tracheoesophageal ... |
ORPHA:3157 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Nausea, Congestive hea... |
ORPHA:31826 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Small for gestational age, Gastroparesis, Hyperammonemia, Respiratory insufficie... |
OMIM:614052 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity |
OMIM:615982 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... |
OMIM:615363 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Asthma, Obesity, Male hypogonadism, Hypercholesterolemia, Pancreat... |
OMIM:619471 |
White-Sutton Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypoglycemic seizur... |
OMIM:616364 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Recu... |
OMIM:145001 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Thrombocytopenia, High palate, Neutropenia, Umbilical hernia, Failure ... |
OMIM:614520 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... |
ORPHA:98897 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Apnea, Flexion contracture, Obesity, High palate, Bruxism, Male hypogonadism, Wrist... |
OMIM:300055 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... |
OMIM:619693 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Cleft palate, Truncal obesity, High palate, Enamel hyp... |
OMIM:618363 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumon... |
OMIM:619057 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, ... |
ORPHA:70588 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Repetitive compulsive behavior, Microvesicu... |
ORPHA:66634 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Abdominal pain, Elevated circulating sitosterol con... |
OMIM:210250 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... |
ORPHA:276621 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing, Feeding difficulties |
OMIM:619854 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation, Feeding difficulties, Chronic constipation, Respiratory failure, ... |
OMIM:619483 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C... |
ORPHA:54251 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Eczema, Aggressive behavior, Pica, Obesity, High palate |
OMIM:620191 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Abdominal pain, Splenomegaly, Jaundice, Splenic infarction, Leuko... |
OMIM:603903 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Intermittent hyperventilation, Aggressive behavior, Precocious puber... |
ORPHA:163681 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris |
ORPHA:140905 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circula... |
OMIM:613677 |
Plague |
|
Respiratory distress, Chapped lip, Glossitis, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, A... |
ORPHA:707 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:615595 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... |
OMIM:116920 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland... |
OMIM:181000 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity, Feeding difficulties, Ina... |
ORPHA:411511 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Feeding difficulties, Hypertension, Recurrent otitis media, Umb... |
OMIM:619758 |
Cystic Fibrosis |
|
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li... |
ORPHA:586 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Atelis Syndrome 2 |
|
Dyspnea, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperi... |
OMIM:620185 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, ... |
OMIM:167800 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... |
ORPHA:449563 |
Multiple Endocrine Neoplasia Type 2 |
|
Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromato... |
ORPHA:653 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Peribr... |
ORPHA:244 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Feeding difficulties in infancy, Obesity, Recurrent infections, High palate, Polysplenia, Failure... |
OMIM:610543 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... |
ORPHA:231632 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
Weaver Syndrome |
|
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... |
OMIM:277590 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Feeding difficulties, Constipation, Gastroesophageal reflux, Neutropenia |
OMIM:620012 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Caudal Regression Syndrome |
|
Bowel incontinence, Impulsivity, Maternal diabetes, Hypertension, Pulmonary hypoplasia, Anal atresia |
ORPHA:3027 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... |
OMIM:612462 |
Monosomy 18P |
|
Hypertension, Hypothyroidism, Autoimmunity, Cleft palate |
ORPHA:1598 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Feeding difficulties in infancy, High, narrow p... |
OMIM:616914 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ele... |
ORPHA:81 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Hypogly... |
ORPHA:90790 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Anorexia, Pulmonary emb... |
ORPHA:394 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Obesity, Respiratory insufficiency |
OMIM:615633 |
Senior-Loken Syndrome 9 |
|
Obesity, Cholestasis, Tubulointerstitial nephritis, Hypogonadism, Hepatic fibrosis, Chronic bronc... |
OMIM:616629 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... |
OMIM:307030 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Diarrhea, Elevated circulating creatinine concentration, Schisto... |
OMIM:235400 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Feeding difficulties in infancy, Periodontitis, Gastroesophag... |
ORPHA:534 |
Nephrotic Syndrome, Type 1 |
|
Neonatal respiratory distress, Small for gestational age, Hypothyroidism, Hyperlipidemia, Pyloric... |
OMIM:256300 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Glucose intolerance, T lymphocytopenia, Hypoplasia of the... |
OMIM:208900 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Hypo... |
OMIM:600740 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Summitt Syndrome |
|
Camptodactyly of finger, Obesity, Tall stature |
ORPHA:3210 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... |
ORPHA:1959 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Abnor... |
ORPHA:173 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... |
ORPHA:98848 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Multiple joint contractures, Eczema, Recurrent bronchopulmon... |
ORPHA:33364 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... |
OMIM:270450 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Abnormal lung lobation, Hypoalbuminemia, Vomiting, Gastroesophageal... |
OMIM:270400 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatic failure, Hepatitis, Diarr... |
OMIM:613812 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadi... |
ORPHA:2183 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Dyspnea, Hig... |
OMIM:251900 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity, Feeding di... |
ORPHA:98794 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Asthma, Recurrent pneumonia, Polyphagia, ... |
OMIM:620330 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abnormal dental enamel morphology, Abdominal pa... |
ORPHA:79430 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Xp21 Deletion Syndrome |
|
Nausea and vomiting, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating cr... |
ORPHA:261476 |
Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Recurrent res... |
ORPHA:1764 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger, Congestive heart fail... |
ORPHA:354 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Camptodactyly of finger, M... |
ORPHA:2176 |
Porphyria, Acute Intermittent |
|
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Respiratory paralysis, Vomi... |
OMIM:176000 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Eosinophilia, Pu... |
ORPHA:139402 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... |
ORPHA:91347 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... |
ORPHA:379 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... |
OMIM:171400 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Tran... |
ORPHA:156 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix,... |
OMIM:216360 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, High, narrow palate, Obesity, Gastroesophag... |
OMIM:619312 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Small for gestational age, Abnormal dental enamel morphology, Aplastic anemia, Diarrh... |
ORPHA:221008 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy |
ORPHA:56425 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... |
ORPHA:733 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal p... |
ORPHA:29207 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Tachypnea, Small for gestational age, Pulmonary arterial hypertension |
OMIM:613320 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Apnea, Episodic tachypnea, Hyperhidrosis, Aspiration pneumonia, Dysphagia, Abnormal ... |
ORPHA:79264 |
Neuhauser Syndrome |
|
High palate, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, Bifid uvula |
OMIM:249310 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Hypogonadism, Obesity |
ORPHA:2233 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Truncal obesity, H... |
ORPHA:284180 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Abdominal... |
OMIM:229600 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... |
ORPHA:98849 |
Digeorge Syndrome |
|
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... |
OMIM:188400 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... |
ORPHA:29072 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Recurrent urinary tract infections, Overweight, Obesity, Dysphagia, Agitatio... |
OMIM:619229 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract... |
OMIM:616263 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... |
OMIM:220110 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Feeding difficulties, Hypertension, Hypokalemia, Gastroes... |
OMIM:617913 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Recurrent respiratory infections,... |
ORPHA:404454 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Pyloric stenosis, Jaundice, ... |
ORPHA:93111 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... |
ORPHA:163956 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hepatomegaly, Tricuspid regurgitation, Atelec... |
OMIM:620233 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Aganglionic megacolon, Malabsorption, Heart block, Abnormality of the pancreas, Res... |
ORPHA:175 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... |
ORPHA:533 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Elevated ... |
ORPHA:2260 |
Baralle-Macken Syndrome |
|
High, narrow palate, Obesity |
OMIM:619255 |
Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Hypertriglyceridemia, Eleva... |
OMIM:619127 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, H... |
ORPHA:2089 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity, High palate |
ORPHA:85280 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Eczema, Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism, Feeding difficulties |
ORPHA:464288 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Myocardial infarction, Overweight, High pa... |
ORPHA:457240 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga... |
OMIM:250250 |
Wilson-Turner Syndrome |
|
Truncal obesity, Hypogonadotropic hypogonadism |
ORPHA:3459 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Small for gestational age, Eczema, Apnea, Aggressive behavior, Poor appetite, Gastroi... |
OMIM:617799 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... |
ORPHA:1018 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development |
OMIM:610628 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Anti-granulocyte-macrop... |
OMIM:610910 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, High palate, Obesity |
ORPHA:1035 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Premature thelarche, Atrioventricular block, Hypertension, Arthritis, Type I diabete... |
ORPHA:371428 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Tics, Vomiting, Compulsive behaviors, Otitis media, High palate, Abnormal re... |
OMIM:619475 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Telangiectasia |
ORPHA:459033 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Juvenile Dermatomyositis |
|
Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:93672 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia |
OMIM:256700 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial inf... |
ORPHA:3342 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Feeding difficulties in infancy, Obesity |
ORPHA:254525 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Obesity |
OMIM:618124 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity, Elevated hepatic transaminase |
OMIM:617406 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Abnormal lung lobat... |
ORPHA:567 |
Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Aggressive behavior, Protruding tongue, Obesity, Macroglossia, ... |
OMIM:610253 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Submucous cleft hard palate, Obesity, Attention deficit hyperactivity disord... |
OMIM:619680 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Con... |
ORPHA:99745 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Vomiting, Hepatic steatosis |
OMIM:201450 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Obesity |
OMIM:600151 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Cleft palate, Hepat... |
OMIM:301066 |
Cornelia De Lange Syndrome 5 |
|
Feeding difficulties in infancy, Cleft palate, Truncal obesity, High palate, Hypogonadism, Gastro... |
OMIM:300882 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent infections, Hypohidrosis, Recurrent bacterial infections, ... |
OMIM:612783 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... |
OMIM:277700 |
Hurler Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Angina pectoris, Camptodactyly of finger, Splenom... |
ORPHA:93473 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Cleft palate, Recurrent infections, Increased mean corpuscular volume, Esophag... |
OMIM:612562 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Camptodactyly of finger, Aggressive behavior, Feeding difficulties ... |
OMIM:607872 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... |
ORPHA:85414 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Flexion contr... |
ORPHA:79243 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Hypertension, Mitral regurgitation, Hepatic cysts |
OMIM:173900 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Postorgasmic Illness Syndrome |
|
Hypertension, Xerostomia, Palpitations, Hyperhidrosis |
ORPHA:279947 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Hypoglycemia, Precocious puberty, In... |
ORPHA:786 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re... |
OMIM:610984 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Skin rash, Telangiectasia of the skin, Small for gestational age, Abnormal dental ena... |
ORPHA:2909 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... |
ORPHA:381 |
Pseudohypoparathyroidism, Type Ia |
|
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:103580 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... |
ORPHA:507 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Apnea, Flexion contracture, Retinal hemorrhage, Corne... |
OMIM:614653 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... |
ORPHA:79445 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, High palate, Raynaud phenomenon, ... |
ORPHA:740 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, H... |
OMIM:612780 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Increased circulating IgE level, Obesity, Hypogonadism, Flexion contract... |
ORPHA:3409 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Macroglossia, Abdominal obesity, Hypogonadism, Delayed puberty |
OMIM:300354 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Decreased mitochondrial complex III activity in ... |
OMIM:124000 |
2Q37 Microdeletion Syndrome |
|
Eczema, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Attention deficit hyperactivi... |
ORPHA:1001 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Abdominal pain, Respiratory insuf... |
ORPHA:2135 |
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 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Dyspnea, Jaundice, Abdominal distention, Thrombocytopenia, Hepatosplenomeg... |
OMIM:246400 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Neutropenia, Corneal scarring, Feeding difficulties, Dyspha... |
OMIM:618460 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Acute megakaryocytic leukemia, ... |
ORPHA:870 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity, Hypot... |
ORPHA:439822 |
Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Cholestasis, Hypertension, Reduced number of intrahepat... |
ORPHA:52 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:177200 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... |
OMIM:171420 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ... |
ORPHA:536532 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Raynaud phenomenon, Discoid lupus rash, Antinuclear antibody p... |
ORPHA:536 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:171839 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Increased hepatocellular lipid droplets... |
OMIM:220111 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aggressive behavior, Mitral regurgitation, Abdominal obesity, Disproportionate tall stature, Atte... |
OMIM:301039 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Mucopolysaccharidosis Type 2 |
|
Abnormal repetitive mannerisms, Oppositional defiant disorder, Hepatomegaly, Hyperactivity, Recur... |
ORPHA:580 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Idiopathic Intracranial Hypertension |
|
Vomiting, Obesity, Nausea |
ORPHA:238624 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Ogden Syndrome |
|
Apnea, Maternal diabetes, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficie... |
OMIM:300855 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Obesity |
ORPHA:464282 |
Sotos Syndrome |
|
Neonatal hypoglycemia, Aggressive behavior, High, narrow palate, Increased body weight, Narrow pa... |
OMIM:117550 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, High palate, Abnormal repetitive mannerisms, Hypothyroidism |
ORPHA:2479 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Polycystic liver disease, Pancreatic cysts, Elevated circulat... |
ORPHA:730 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Hyperhidrosis, Glomus jugular tumor, Adrenal pheochro... |
OMIM:605373 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... |
OMIM:619534 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency, Abnormal intestine morphology |
ORPHA:977 |
Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Autoimmunity, Hypermagn... |
ORPHA:405 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Hyperlipidemi... |
ORPHA:567546 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Invasive parasitic infection, Decreased circulating copper concentration... |
ORPHA:139417 |
Tenorio Syndrome |
|
Hypoglycemia, Apnea, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis ... |
OMIM:616260 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... |
OMIM:300869 |
Hermansky-Pudlak Syndrome 1 |
|
Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of the large intestine, Col... |
OMIM:203300 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abdo... |
ORPHA:793 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Aggressive behavior, Obesity, Narrow palate, Gastroesophageal reflux, Overgrowth |
OMIM:620250 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti... |
ORPHA:99832 |
Alagille Syndrome 2 |
|
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Peripheral pulmonary art... |
OMIM:610205 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Decreased serum leptin, Dyspnea, Flexion contracture, Right bundle branch block, Hyp... |
OMIM:614008 |
Renal Hypoplasia |
|
Hypertension, Polydipsia, Small for gestational age, Recurrent urinary tract infections |
ORPHA:93101 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Restrictive ventilatory defect, Abnormal circulating... |
ORPHA:369840 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts, Gout |
OMIM:618061 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Gastroparesis, Recur... |
ORPHA:70 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Second degree atrioventricular block, Hypokalemia, Primary hyperaldosteronism, Pulm... |
OMIM:615474 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism |
OMIM:612463 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:157 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Decreased liver function, Hepatic cysts |
OMIM:600666 |
Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Macroglo... |
ORPHA:309288 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hepatomegaly, Ascites, Gastroesophageal reflux |
ORPHA:2414 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... |
OMIM:617050 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia, Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased bod... |
OMIM:609053 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Flexion contracture, High palate |
ORPHA:90153 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft palate, Feeding difficulties, G... |
ORPHA:261197 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... |
ORPHA:3464 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612926 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism, Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Feeding difficulties, Cardiomyopathy, Respiratory failure, Decreased liver function... |
OMIM:614922 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Inguinal hernia, Shortened PR interval, Obesity, Hypertension, Re... |
OMIM:614947 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Subarachnoid hemorrhage, High, ... |
ORPHA:91387 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Hypoventilation, Failure to thrive in infancy, Retinal telangiectasia, Obesity, Fee... |
OMIM:620155 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se... |
ORPHA:95455 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Encopresis, Obesity, Gastroesophageal reflux, High palate, Compulsive behaviors |
OMIM:618443 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
White-Sutton Syndrome |
|
Ventral hernia, Abnormality of the gastrointestinal tract, Hyperactivity, Inguinal hernia, Congen... |
ORPHA:468678 |
Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Hypertension, Hypoalbuminemia, High palate, Camptodactyly, Failure to thrive |
OMIM:617729 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Obesity, Tall stature |
OMIM:300602 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... |
OMIM:619525 |
Aregenerative Anemia |
|
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion... |
ORPHA:101096 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Abnormality of the pancreas, Narrow palate, Cleft palate, Anteriorly placed... |
ORPHA:1555 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Recurrent infections, Feeding diff... |
OMIM:619273 |
Carpenter Syndrome |
|
Umbilical hernia, Obesity, Polysplenia |
ORPHA:65759 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612925 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Obesity, Weight loss, High palate, At... |
ORPHA:251071 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... |
OMIM:612924 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... |
ORPHA:85293 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... |
OMIM:619708 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Chronic Myeloid Leukemia |
|
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... |
ORPHA:521 |
Williams-Beuren Syndrome |
|
Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Glucose intolerance, Early... |
OMIM:194050 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Mat... |
ORPHA:96149 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... |
ORPHA:805 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Abdominal pain, P... |
ORPHA:892 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Small for gestational age, High, narrow palate, ... |
OMIM:234100 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Joubert Syndrome 37 |
|
Hepatomegaly, High palate, Obesity |
OMIM:619185 |
Pmm2-Cdg |
|
Respiratory distress, Multiple joint contractures, Elevated circulating thyroid-stimulating hormo... |
ORPHA:79318 |
Arima Syndrome |
|
Hepatomegaly, Dyspnea, Tachypnea, Esophageal varix, Hypertension, Hepatic fibrosis, Cirrhosis, Po... |
OMIM:243910 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Abnormality of the pineal gland, Eczema, Aggressive behavior, Seb... |
ORPHA:369950 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Mediast... |
ORPHA:91138 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Intrahepatic cholestasis, High pa... |
OMIM:606812 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... |
ORPHA:53035 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Feeding dif... |
OMIM:261515 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Gastroesophageal reflux, Compulsive behaviors, Otitis media, Abnormal repetitive mannerisms, Hype... |
ORPHA:353281 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Cleft palate, Neutropenia, Congenital thrombocytopenia, Anemia |
OMIM:616738 |
Carpenter Syndrome 1 |
|
Omphalocele, Precocious puberty, Obesity, High palate, Polysplenia, Pulmonic stenosis, Umbilical ... |
OMIM:201000 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Esophageal atresia, Thro... |
OMIM:227646 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Lymphadenitis, Leukocyt... |
OMIM:260920 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C... |
OMIM:118450 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Microcytic anemia, Abnormal isohemagglutinin level, Hepatomegaly, Chronic l... |
ORPHA:99843 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Marshall-Smith Syndrome |
|
Omphalocele, Apnea, Pyloric stenosis, Recurrent upper respiratory tract infections, Premature ven... |
OMIM:602535 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... |
ORPHA:347 |
Cohen Syndrome |
|
Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, Feeding difficulties in infancy, ... |
ORPHA:193 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatic steatosis, Loss of facial adipose ... |
ORPHA:3455 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Feeding difficulties in infancy, Hepa... |
ORPHA:116 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Wagr Syndrome |
|
Obesity |
ORPHA:893 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Recurrent pneumonia, Elbow flexion contracture, Obesity, Consti... |
OMIM:618493 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperiton... |
ORPHA:64744 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Recurrent respiratory infections, Aggressive behavior, Asthma, Obesity, Self-injurious behavior, ... |
ORPHA:466950 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Aortic regurgitation, Inguinal hernia, Femoral hernia, Protruding tongue, Obesity, Feeding diffic... |
ORPHA:96147 |
Cleft Velum |
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Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... |
ORPHA:99772 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Alport Syndrome |
|
Dyspnea, Dysphagia, Stridor, Hypertension, Vomiting, Cough, Nephritis, Recurrent bronchitis |
ORPHA:63 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Dysphagia, Weight loss, Aspiration pneumonia, Cough, Attention deficit hyperactivity disorder |
ORPHA:216866 |
Kleefstra Syndrome Due To A Point Mutation |
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Inguinal hernia, Large for gestational age, Precocious puberty, Recurrent infections, Self-injuri... |
ORPHA:261652 |
Primary Progressive Freezing Gait |
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Restless legs, Hypertension, Dysphagia |
ORPHA:75567 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Feeding difficulties in infancy,... |
OMIM:277400 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Carney Complex |
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Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... |
ORPHA:1359 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
Gaucher Disease, Type Ii |
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Hepatomegaly, Apnea, Cough, Splenomegaly, Thrombocytopenia, Feeding difficulties, Stridor, Gastro... |
OMIM:230900 |
Combined Oxidative Phosphorylation Deficiency 27 |
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Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia, Feeding difficulties |
OMIM:616672 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmonary ... |
OMIM:208050 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Respiratory distress, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Skin rash, Eleva... |
OMIM:612852 |
Angelman Syndrome |
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Hyperactivity, Protruding tongue, Feeding difficulties in infancy, Obesity, Macroglossia, Constip... |
OMIM:105830 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Bowel incontinence, Dysphagia, Hypertension, Hypotension, Compulsive behaviors, Hypothyroidism |
ORPHA:93256 |
Majeed Syndrome |
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Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... |
ORPHA:77297 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis |
OMIM:145980 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Acute Radiation Syndrome |
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Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin... |
ORPHA:454831 |
Mounier-Kühn Syndrome |
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Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Bartter Syndrome Type 4 |
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Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hypokalemia, Hyperaldostero... |
ORPHA:89938 |
Familial Cerebral Saccular Aneurysm |
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Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Abnormal dental enamel morphology, High palate, Obesity |
ORPHA:2180 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
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Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Feeding difficulties in infancy,... |
ORPHA:500055 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Hiatus hernia, Overweight, Recurrent pneumonia, Recurrent upper respiratory tract infections, Fee... |
OMIM:619769 |
Bardet-Biedl Syndrome 6 |
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Diabetes mellitus, Obesity |
OMIM:605231 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Elevated circulating creatinine concentration, Gout, Hypertension, Tubulointerstitial nephritis, ... |
OMIM:174000 |
Spondyloarthropathy, Susceptibility To, 1 |
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Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Esophageal... |
ORPHA:2908 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Abnormal blood ion concentration, Sepsis, Gastrointestinal inflammation, Vo... |
ORPHA:79404 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E... |
ORPHA:90044 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Cleft palate, Disproportionate tall stature, H... |
OMIM:615300 |
Prader-Willi Syndrome Due To Translocation |
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Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased ... |
ORPHA:177907 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth ho... |
OMIM:131100 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Aggressive behavior, Asthma, Nasal flaring, Gastrointestinal dysmotility, Obesity, Recurrent infe... |
ORPHA:466943 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Overweight, Orthostatic hypotension, Obesity, Dysphagia |
ORPHA:2822 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Hepatomegaly, Recurrent respiratory infections, Cholangitis, Pancreatic cysts, Congenital hepatic... |
OMIM:266920 |
X-Linked Intellectual Disability, Stevenson Type |
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Obesity, Tall stature, Feeding difficulties |
ORPHA:85325 |
Müllerian Aplasia And Hyperandrogenism |
|
Acne, Obesity, Cleft palate, Increased serum testosterone level |
ORPHA:247768 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Anhidrosis, Elevated hepatic transaminase, Dia... |
ORPHA:191 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Restrictive ventilatory defect, Flexion contracture, Elevated circulating creatine kin... |
OMIM:253700 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Anemia |
OMIM:244460 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Gastroesophageal reflux, High pala... |
OMIM:619488 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Adrenogenita... |
OMIM:202010 |
Chops Syndrome |
|
Gastroparesis, Splenomegaly, High, narrow palate, Obesity, Anomalous pulmonary venous return, Gas... |
OMIM:616368 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Myositis, Gastritis, Pericarditis, S... |
ORPHA:809 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Rectal prolapse, Gastr... |
ORPHA:904 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Small for gestational age, Abnormal dental enamel morphology, Aplastic anemia, Diarrh... |
ORPHA:221016 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibo... |
OMIM:248500 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Dyspnea, Hyperlipidemia, Heart murm... |
ORPHA:391665 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Autoim... |
ORPHA:436252 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Truncal obesity, Feeding difficulties |
OMIM:300957 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Atrioventricular block, Otitis media, Aspiration pneumonia, Chronic otitis m... |
ORPHA:581 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Impulsivity, Flexion contracture, Apneic episodes in infancy, Constipation, Aspira... |
ORPHA:35069 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Myeloid leukemia, Hepatic fa... |
ORPHA:331 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Congenital Macroglossia |
|
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion c... |
OMIM:619503 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Recurrent infections, N... |
OMIM:617827 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Hypertriglyceridemia, Smal... |
OMIM:264090 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... |
OMIM:309000 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Cholangitis, Splenomegaly, Recurren... |
OMIM:613610 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Obesity |
OMIM:615994 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
OMIM:615926 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic... |
OMIM:158310 |
Thalidomide Embryopathy |
|
Insulin resistance, Chronic rhinitis |
ORPHA:3312 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Obesity, Heart murmur, Recurrent infections, Anteriorly placed anus, Feeding dif... |
OMIM:618653 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Thrombocytopenia, Flexio... |
OMIM:227645 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Shox-Related Short Stature |
|
High palate, Obesity |
ORPHA:314795 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Hypertension, Chronic pancreatitis |
OMIM:613159 |
Desbuquois Dysplasia 1 |
|
Neonatal respiratory distress, Osteoarthritis, Obesity |
OMIM:251450 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... |
OMIM:616026 |
Nephronophthisis 1 |
|
Hypertension, Polydipsia, Anemia |
OMIM:256100 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Increased connective tissue, Flexion contracture, Ab... |
ORPHA:98905 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Pneumonia, Splenomegaly, Flexion contract... |
OMIM:253200 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Thrombocytopenia, Reticu... |
OMIM:600901 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Pulmonary hypoplasia |
OMIM:191830 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Chronic diarrhea, Obesity, Anemia |
OMIM:620072 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Pyloric stenosis, Obesity, Ectopic anus, Delayed puberty, Arrhythmia, He... |
ORPHA:3138 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon |
OMIM:609313 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Camptodactyly of finger, Recurrent ear infections, Splenomegaly, Flexion contrac... |
ORPHA:217085 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Skin rash, Abdominal pain, Orchitis, S... |
ORPHA:32960 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Thrombocytopenia, Reticu... |
OMIM:227650 |
Adenine Phosphoribosyltransferase Deficiency |
|
Abdominal colic, Hypertension, Recurrent urinary tract infections, Atrial fibrillation |
ORPHA:976 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
Acromegaly |
|
Diabetes mellitus, Acne, Hypogonadotropic hypogonadism, Elevated circulating growth hormone conce... |
ORPHA:963 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Cleft palate |
OMIM:614424 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Chromomycosis |
|
Keratitis, Abnormal lung morphology, Atypical scarring of skin, Recurrent bacterial infections, K... |
ORPHA:182 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Camptodactyly of finger, Recurrent ear infections, Splenomegaly, Flexion contrac... |
ORPHA:217093 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Congestive heart failure, Dilated cardiomyo... |
OMIM:208000 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... |
OMIM:171300 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:52368 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Feeding difficulties, Chronic constipation, Aspiration pneumonia, Fa... |
OMIM:616430 |
Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... |
ORPHA:90340 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Obesity |
OMIM:257500 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Hypertension, Gastric ulcer, Delayed puberty, Anemia |
OMIM:208060 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Congestive heart failure, Asthma, Obesity,... |
ORPHA:444077 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Hypertension, He... |
OMIM:193300 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Hip contracture, Splenomegaly, Ena... |
OMIM:216400 |
Au-Kline Syndrome |
|
Bifid tongue, Cleft palate, Feeding difficulties, Hypertension, Constipation, Gastroesophageal re... |
OMIM:616580 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... |
OMIM:609536 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Respiratory failure requiring assisted ventilation, Nausea and vomiting, Neutrophil... |
ORPHA:1930 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti... |
OMIM:186580 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure |
OMIM:619431 |
Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, High palate, Ta... |
ORPHA:2563 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
Sarcoidosis |
|
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ... |
ORPHA:797 |
Alport Syndrome 3A, Autosomal Dominant |
|
Glomerulonephritis, Hypertension, Hypophosphatemia, Azotemia, Nephritis |
OMIM:104200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Hyperactivity, Sinusitis, Recurrent urinary tract infections, Dysgam... |
OMIM:251260 |
Apert Syndrome |
|
Feeding difficulties in infancy, Esophageal atresia, Respiratory insufficiency, Narrow palate, Cl... |
ORPHA:87 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Large for gestational age, Seborrheic dermatitis, Birth length gre... |
OMIM:300868 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Overweight, High, narrow palate, Head-banging, Feeding difficul... |
OMIM:619575 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Hi... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Hi... |
ORPHA:353277 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Anhidrosis, Small for gestational age, Splenom... |
OMIM:133540 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Heart murmur |
ORPHA:1867 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension, Nephritis |
OMIM:203780 |
Scalp-Ear-Nipple Syndrome |
|
Recurrent urinary tract infections, Hypohidrosis, Pyelonephritis, Hypertension, Type I diabetes m... |
ORPHA:2036 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:93924 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Abdominal obesity, ... |
OMIM:619321 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Unusual skin infection, Sinusitis, Increased red blood cell count, Pneumonia, Pustu... |
ORPHA:68 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Fasciitis, Anhidrosis, Osteomyelitis, Impulsivity, Abscess, Tooth abs... |
ORPHA:642 |
Joubert Syndrome 8 |
|
Hyperventilation, Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenome... |
ORPHA:309282 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture... |
ORPHA:2020 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Recurrent infections, Feeding difficulties, Gastroesophageal reflux, Joint contracture of the 5th... |
OMIM:619934 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Eryt... |
ORPHA:124 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... |
OMIM:614204 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Diabetes mellitus, Jaundice, Obe... |
OMIM:614231 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Truncal obesity, Hypogonadism, Feeding difficulties in infancy |
ORPHA:127 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Panniculitis, Inflammatory abnor... |
ORPHA:33577 |
Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Pulmonary edema, Neutrophilia, Anorexia, Abdominal pain, Meni... |
ORPHA:79139 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis... |
OMIM:301072 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Asthma, Obesity, Periodontitis, Type I diabetes mellitus, Dentinogenesis impe... |
OMIM:619269 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Hy... |
ORPHA:2330 |
Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Precocious puberty, Chronic myelogenous leukemia, Hypertensi... |
ORPHA:636 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Feeding difficulties, Mitral regur... |
OMIM:619167 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension, Nephritis, Thrombocytopenia |
OMIM:301050 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Decreased response to growth hormone stimula... |
ORPHA:529962 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Obesity, Narrow palate, Self-injurious behavior, High palate,... |
OMIM:616078 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertrophy |
OMIM:616028 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis, Tachypnea, Hypertension, Pulmonary arterial hypertension... |
OMIM:613834 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Posterior Urethral Valve |
|
Hypertension, Recurrent urinary tract infections, Pyelonephritis |
ORPHA:93110 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Feeding difficulties in infancy, Narrow palate, Anteriorly placed anus, Hyp... |
OMIM:123790 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Abnormal dental enamel morphology, Hamartoma of tongue, Pancreatic... |
ORPHA:2750 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Abdominal pain, Chronic pancreatitis, Insulin-dependent but ketosis-res... |
OMIM:608189 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis |
OMIM:610644 |
Tangier Disease |
|
Hypertriglyceridemia, Abdominal pain, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia, ... |
ORPHA:31150 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Poikilocytos... |
OMIM:300908 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Streak ovary, Obesity |
ORPHA:261529 |
White-Kernohan Syndrome |
|
Obesity, Anteriorly placed anus, Gastroesophageal reflux, Rectovaginal fistula, Attention deficit... |
OMIM:619426 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Elbow contracture, Feeding difficulties in infancy, Pyloric stenosis, Ulcerative... |
OMIM:617137 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Acne, Diarrhea, Vacuolated lymphocytes, Macroglos... |
OMIM:208400 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Precocious puberty, Truncal obesity, Attention deficit hyperact... |
ORPHA:2637 |
Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Hypertension, Lobulated tong... |
OMIM:311200 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Abnormality of glycolipid metabolism, Precocious puberty, GM... |
ORPHA:845 |
Monosomy 22Q13.3 |
|
Nausea and vomiting, Hyperactivity, Recurrent skin infections, Hair-pulling, Obesity, Hypohidrosi... |
ORPHA:48652 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... |
OMIM:127550 |
Achondroplasia |
|
Hypoxemia, Restrictive ventilatory defect, Obesity |
ORPHA:15 |
Momo Syndrome |
|
High palate, Overgrowth, Obesity |
OMIM:157980 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... |
OMIM:258360 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Flexion contracture, Mal... |
ORPHA:99027 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Small intestinal dysmotility, Sinus bradycardia, Hypopnea, Restrictive ve... |
OMIM:619482 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Inguinal hernia, Premature osteoarthritis, Hypertension, Mitral regurgitati... |
OMIM:611962 |
Papillorenal Syndrome |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:120330 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Transient neutropenia, Large for gestational age, Macroglossia, Overgrowth, Tall... |
OMIM:617107 |
Xylt1-Cdg |
|
Truncal obesity, Acne, Cleft palate, Hepatomegaly |
ORPHA:370930 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abd... |
ORPHA:99921 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Myhre Syndrome |
|
Small for gestational age, Obesity, Respiratory insufficiency, Cleft palate, Hypertension, Respir... |
OMIM:139210 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Gastrointestinal stro... |
OMIM:115310 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Leukopenia, F... |
OMIM:603467 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Myhre Syndrome |
|
Inguinal hernia, Femoral hernia, Precocious puberty, Submucous cleft hard palate, Cleft palate, H... |
ORPHA:2588 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon |
ORPHA:163746 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Roifman-Chitayat Syndrome |
|
Arthritis, Umbilical hernia, Pneumonia |
OMIM:613328 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, ... |
OMIM:612132 |
3Q29 Microduplication Syndrome |
|
Obesity, Cleft palate, Ectopic anus, High palate, Camptodactyly of toe |
ORPHA:251038 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia, Congenital hypothyroidism |
OMIM:271510 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... |
ORPHA:35909 |
Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... |
ORPHA:30391 |
Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Hypohidrosis, Pyelonephritis, Hypertension, Multiple lipomas, Supravent... |
OMIM:181270 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Hypertension, Pulmonary artery hypoplasia, Pulmo... |
OMIM:245150 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... |
ORPHA:288 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Transient neutropenia, Chronic neutropenia, Large for gestational age, Macroglos... |
ORPHA:500095 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Microvesicul... |
OMIM:203700 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Pneumonia, Congenital diaphragmatic hernia, Hiatus hernia, Malrotation of colon,... |
OMIM:122470 |
Alkaptonuria |
|
Myocardial infarction, Osteoarthritis, Hypertension, Arthritis, Prostatitis |
ORPHA:56 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, C... |
ORPHA:478 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Streak ovary, Increased circulating gonadotropin level, Obesi... |
ORPHA:1772 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Recurrent infections, Hypertension, Gastroesophageal reflux, High palate, Enamel hypoplasia, Neon... |
OMIM:300896 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Omphalocele, Inguinal hernia, Recurrent respiratory infections, Aganglionic megacol... |
ORPHA:2273 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Flexion contracture, Elbow flexion contracture, Re... |
OMIM:210710 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Obesity |
OMIM:194072 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, High palate, Hypertensive crisis |
ORPHA:1358 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Inguinal hernia, Small for gestational age, Eczema, Decreased response to growth h... |
OMIM:613406 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Increased body weight |
ORPHA:64745 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure |
OMIM:617809 |
Renal Agenesis |
|
Hypertension, Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Premature thelarche, Feeding difficulties in infancy, High, narrow palate, ... |
OMIM:180849 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatic failure, ... |
OMIM:276700 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension, Hyperuricemia |
ORPHA:2769 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Recurrent otitis media, Obesity |
OMIM:250420 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni... |
ORPHA:314655 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Feeding difficulties, Macroglossia, Cardiomyopathy, Abnormal odontoid tissue ... |
ORPHA:79255 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Gastroesophageal reflux, Dysphag... |
ORPHA:73230 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus |
OMIM:210720 |
Coffin-Siris Syndrome |
|
Hyperactivity, Aggressive behavior, Recurrent upper respiratory tract infections, Recurrent infec... |
ORPHA:1465 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Hypertension, Neonatal respiratory distress, Congenital diap... |
OMIM:194080 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Transient ischemic attack, Failure to thrive in infancy, Adrenal calcificat... |
ORPHA:51608 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Precocious puberty, Obesity, Cleft palate, Recurrent infections,... |
ORPHA:2322 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal atresia, Anal stenosis, Elevated circulating alpha-fetoprotein concentration, Feeding diffic... |
ORPHA:280633 |
Sponastrime Dysplasia |
|
Small for gestational age, Precocious puberty, Recurrent pneumonia, Decreased circulating antibod... |
ORPHA:93357 |
Desbuquois Dysplasia 2 |
|
Truncal obesity, Neonatal respiratory distress, Bifid uvula, Cleft palate |
OMIM:615777 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Eczema, Rectal prolapse, Obesity, Pseudohypoparathyroidism, F... |
OMIM:617157 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Mowat-Wilson Syndrome |
|
Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Abnorma... |
ORPHA:2152 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Aspiration pneumonia, Feeding difficulties |
ORPHA:95232 |
Pierson Syndrome |
|
Retinal hemorrhage, Feeding difficulties, Hypertension, Tube feeding, Hypoproteinemia |
OMIM:609049 |
Perlman Syndrome |
|
Distal ileal atresia, Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, P... |
OMIM:267000 |
Primrose Syndrome |
|
Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul... |
OMIM:259050 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Jaundice, Abnormal lung ... |
ORPHA:646 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Tachypnea, Feeding diffic... |
ORPHA:397715 |
Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... |
ORPHA:85436 |
Neurofibromatosis, Type I |
|
Parathyroid adenoma, Hypertension, Overgrowth, Pheochromocytoma |
OMIM:162200 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Recurrent skin infections, Eczema, Aganglionic megacolon, Keratitis... |
OMIM:308205 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirr... |
OMIM:613471 |
Renal Dysplasia |
|
Hypertension, Recurrent urinary tract infections, Abdominal pain, Pyelonephritis |
ORPHA:93108 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Feeding difficulties in infancy, T... |
ORPHA:2745 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Uterine prolapse, Apnea, Decreased serum iron, Breathing dysregulation, Abnormal... |
ORPHA:438213 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Precocious puberty, Gastrointestinal stroma tumor, Abnormal lung morp... |
ORPHA:97685 |
Yunis-Varon Syndrome |
|
High, narrow palate, Pyloric stenosis, Renovascular hypertension, Hypertension, Cardiomyopathy, G... |
ORPHA:3472 |
Ulnar-Mammary Syndrome |
|
Inguinal hernia, Ectopic posterior pituitary, Anal stenosis, Anterior pituitary hypoplasia, Pylor... |
OMIM:181450 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Failure to thrive, Cleft palate, Camptodactyly, Joint contracture o... |
OMIM:247200 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspiration pneumonia, Bifid uvula |
OMIM:300472 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Microcolon |
OMIM:619351 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... |
OMIM:616268 |
Adams-Oliver Syndrome 1 |
|
Pulmonary artery stenosis, Cleft palate, Hypertension, Pulmonic stenosis, Pulmonary arterial hype... |
OMIM:100300 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Telangiectasia of the skin, Transient ischemic attack, High, narrow palate, Oste... |
ORPHA:286 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Abdominal distention, Microcolon |
OMIM:619362 |
Cornelia De Lange Syndrome |
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Intestinal malrotation, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Pyloric... |
ORPHA:199 |
Bardet-Biedl Syndrome 12 |
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Hypogonadism, Obesity |
OMIM:615989 |
Carpenter Syndrome 2 |
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Tricuspid regurgitation, High, narrow palate, Obesity, Narrow palate, Knee flexion contracture, H... |
OMIM:614976 |
Fontaine Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Small for gestational age, Protrudi... |
OMIM:612289 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Aortic regurgitation, Self-injurious behavior, Truncal obesity, High palate, Camptodactyly, Failu... |
OMIM:612474 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Hyperactivity, Protruding tongue, Obesity, Macroglossia, Vomiting, Hypogonadism, Gastroesophageal... |
OMIM:309580 |
Familial Bicuspid Aortic Valve |
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Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Retinitis Pigmentosa 74 |
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Obesity |
OMIM:616562 |
6Q Terminal Deletion Syndrome |
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High, narrow palate, Failure to thrive, Obesity |
ORPHA:75857 |
Pallister-Killian Syndrome |
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Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2n... |
OMIM:601803 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Anal stenosis, Intestinal malrotation, Premature thelarche, Malabsorption, Feed... |
OMIM:147920 |
Doors Syndrome |
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Respiratory distress, Adrenal hyperplasia, Cleft palate, Congenital hypothyroidism, Feeding diffi... |
ORPHA:79500 |
Yunis-Varon Syndrome |
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Small for gestational age, Failure to thrive in infancy, Pyloric stenosis, Heart murmur, Feeding ... |
OMIM:216340 |