Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent Klebsiella... |
OMIM:614372 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
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 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... |
OMIM:616022 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Increased circulating IgM level, Recurrent bacterial infections... |
OMIM:605258 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Malabsorptio... |
OMIM:209920 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... |
OMIM:137100 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Inguinal hernia, Recurrent upper respiratory tract infections, ... |
OMIM:300209 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Recurrent bacterial infections, Recurrent upper and lower respir... |
OMIM:608106 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Obesity |
ORPHA:99976 |
Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Recurrent viral infections, Recurrent mycobacterial infections, ... |
ORPHA:275 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacter... |
ORPHA:98813 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Increased circulating IgM level, Recurrent bacterial infections, Decreased circulating IgE, Decre... |
OMIM:606843 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity |
ORPHA:88643 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... |
OMIM:193670 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Median cleft palate, Large for gestational age |
ORPHA:2432 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:240500 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Malabsorption, Meningitis, Invasive fungal infection, Severe ... |
ORPHA:83471 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophagus, Recurrent viral i... |
OMIM:243700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida... |
ORPHA:572 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Recurrent bacterial skin infections, Recurrent herpes, Abnormal ... |
ORPHA:276 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lipodystrophy, Elevated circulating C-reactive protein concentration, Increased circulating IgA l... |
OMIM:618048 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacterial infections, Recurrent s... |
OMIM:607594 |
Immunodeficiency 12 |
|
Recurrent viral infections, Esophageal stricture, Recurrent bacterial infections, Absent isohemag... |
OMIM:615468 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... |
OMIM:116920 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... |
OMIM:613496 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level |
ORPHA:169079 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
Leptin Deficiency Or Dysfunction |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesity, Recurrent ear infections |
OMIM:614962 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:911 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Sepsis, Pulmonary tuberculosis, Decreased circulating IgG le... |
ORPHA:183675 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Recurrent viral ... |
OMIM:606367 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Failure to thrive |
OMIM:619693 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... |
OMIM:147060 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Failure to t... |
OMIM:617475 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Dysgammaglobulinemia, Increased circulating IgA level, Meningitis, Sepsis, Inc... |
OMIM:308230 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Cleft ... |
OMIM:616222 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... |
OMIM:613179 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Recurrent viral infections, Decreased circulating antibody level... |
ORPHA:331206 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Amelogenesis imperfecta, ... |
ORPHA:169090 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Overweight, Gastroesophageal reflu... |
ORPHA:486815 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc... |
OMIM:616005 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:486 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71526 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Pyloric stenosis, Obesity, Cleft palate, Truncal obesity, High palate,... |
ORPHA:96184 |
Omenn Syndrome |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Failure ... |
OMIM:603554 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Severe cytomegalovirus infection, Increase... |
OMIM:300291 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Recurrent otitis media, Recurrent upper respiratory tract infections, Gastroesophageal reflux, In... |
ORPHA:589905 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta, Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Macroglossia, Increased body mass index, Increased body weight |
OMIM:614450 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Obesity |
ORPHA:329249 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Hypercholesterolemia, High palate, Obesity |
ORPHA:254531 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Pgm3-Cdg |
|
Lactose intolerance, Recurrent respiratory infections, Increased circulating IgA level, Recurrent... |
ORPHA:443811 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Esophageal stricture, Hyperkalemia, Sepsis, Rec... |
OMIM:617053 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp... |
OMIM:174900 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Chronic decreased cirulating IgG2, Abnormal intestine morpholog... |
OMIM:615607 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Meconium ileus, Malabsorption... |
ORPHA:586 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration... |
ORPHA:48435 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Malabsorption |
OMIM:600955 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Increased circulating free fatty acid level |
ORPHA:293964 |
Macrocephaly/Autism Syndrome |
|
Large for gestational age, Obesity, Decreased circulating antibody level, Recurrent infections, O... |
OMIM:605309 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Camptodactyly of finger, Malabsorption, Recurrent bact... |
ORPHA:2176 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Cachexia |
ORPHA:60033 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... |
ORPHA:221139 |
Whim Syndrome |
|
Abnormal small intestine morphology, Recurrent upper respiratory tract infections, Recurrent pneu... |
ORPHA:51636 |
Immunodeficiency 87 And Autoimmunity |
|
Villous atrophy, Hypertriglyceridemia, Atrophic gastritis, Necrotizing enterocolitis, Elevated ci... |
OMIM:619573 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Failure to thrive, Recurrent viral infections, Increased circu... |
OMIM:102700 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Recurrent upper respiratory tract infections, Recurrent pneumonia, Gas... |
OMIM:619769 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Hematochezia, Recurrent bacterial infections,... |
OMIM:615895 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Inguinal h... |
OMIM:612541 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Obesity |
OMIM:617885 |
Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Bifid uvula, Hypocalcemic seizures |
OMIM:241410 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Sepsis,... |
ORPHA:247353 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Elevated ci... |
OMIM:242840 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
Abcd Syndrome |
|
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis |
OMIM:600501 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Decreased circulating antibody level, Decreased circu... |
OMIM:300972 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Esophageal varix, Hepat... |
ORPHA:264580 |
Mannosidosis, Alpha B, Lysosomal |
|
Macroglossia, Inguinal hernia, Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... |
ORPHA:167 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Recurrent viral infections, Hypoamylasemia, Sepsis, Re... |
ORPHA:811 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hepatocellular adenoma,... |
ORPHA:79240 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Recurrent bacterial infections, Inflammation of the large intestine, Hyperuricemi... |
OMIM:232220 |
Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections, I... |
ORPHA:244 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Gastroesophageal reflux, Recurrent abscess f... |
OMIM:608233 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Abnormal circulating C-peptide co... |
ORPHA:552 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Chromomycosis |
|
Atypical scarring of skin, Recurrent bacterial infections |
ORPHA:182 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Enterocolitis, Hepatocellular adenoma, Ulcerative colitis, ... |
ORPHA:79259 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Increased body weight, Abnormal circulating fatty-acid concentration, L... |
ORPHA:263455 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Dorsocervical fat pad, Increased body weight |
OMIM:615830 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Obesity, Neoplasm of the liver, Hepatocellular carcinoma, Hypercholesterolemia |
ORPHA:69663 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Recurrent systemic pyogenic infections, Hepatocellular carcinoma, Celiac dise... |
ORPHA:171 |
Insulinoma |
|
Zollinger-Ellison syndrome, Increased body weight |
ORPHA:97279 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Sotos Syndrome |
|
High, narrow palate, Increased body weight, Narrow palate, High palate, Gastroesophageal reflux, ... |
OMIM:117550 |
Insulin-Resistance Syndrome Type B |
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Abnormal circulating lipid concentration, Abnormality of body weight, Increased circulating IgA l... |
ORPHA:2298 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Hyperlipidemia, Dorsocervical fat pad, Increased body weight, Abdominal obesity |
ORPHA:189427 |
Wilson Disease |
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Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Magel2-Related Prader-Willi-Like Syndrome |
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Recurrent respiratory infections, Flexion contracture, Xerostomia, Increased body weight, Abdomin... |
ORPHA:398069 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Peptic ulcer, Overweight, Obesity, Hyperproteinemia, Increased circulating ... |
ORPHA:90041 |
Chediak-Higashi Syndrome |
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Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections |
OMIM:214500 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Adrenocortical Carcinoma |
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Hypokalemia, Increased body weight, Weight loss |
ORPHA:1501 |
Leukocyte Adhesion Deficiency |
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Recurrent urinary tract infections, Recurrent staphylococcal infections, Perianal abscess, BCGosi... |
ORPHA:2968 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Omphalocele, Recurrent respiratory infections, Inguinal hernia, Aganglionic megacolon, Abnormal d... |
ORPHA:2273 |
Sickle Cell Disease |
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Recurrent bacterial infections |
OMIM:603903 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections |
ORPHA:99103 |
Cushing Disease |
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Dorsocervical fat pad, Increased body weight, Recurrent cutaneous fungal infections, Truncal obes... |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Malignant gastrointestinal tract tumors, Dorsocervical fat pad, Neoplasm of the stomach, Increase... |
ORPHA:99889 |
Carney Complex |
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Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Increased body weight, Neopl... |
ORPHA:1359 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Corneal scarring, Atypical scarring of skin, Recurrent Staphylococcus aureus infection... |
ORPHA:642 |