Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... |
OMIM:615615 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... |
OMIM:308220 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Candidiasis, Familial, 1 |
|
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Premature coronary artery atherosclerosis, Increased LDL ... |
OMIM:615703 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... |
ORPHA:90283 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Hyperuricemia, Polycystic o... |
ORPHA:79083 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Decreased specific pneumococcal ... |
OMIM:615897 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Accelerated atherosclerosis, Secondary a... |
ORPHA:280365 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... |
OMIM:613501 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... |
OMIM:615238 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Hy... |
ORPHA:280356 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Gout, Impaired glucose tolerance, Hype... |
OMIM:610947 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Otitis media, Hypergonadotropic hypogon... |
OMIM:203800 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Myalgia, Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Polycystic ovaries, Coronary art... |
ORPHA:2348 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Recurrent upper respiratory tract infections, Primary amenorrhea, Decreased serum lep... |
OMIM:614962 |
Trichodentoosseous Syndrome |
|
Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth, Abnormal hair morp... |
OMIM:190320 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Excessive insulin response to glucagon test, Large for gestationa... |
ORPHA:324575 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Exercise intolerance, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Poly... |
ORPHA:370 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Insulin resi... |
ORPHA:79084 |
Thrombocytopenic Purpura, Autoimmune |
|
Platelet antibody positive |
OMIM:188030 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, A... |
ORPHA:369 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Exercise intolerance, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Poly... |
ORPHA:264580 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries, Elevated circ... |
ORPHA:435660 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Polycystic ovaries, Oligomenorrhea, Decreased serum leptin, Hypertr... |
ORPHA:79085 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Hypertriglyce... |
ORPHA:435651 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Chronic kidney disease, Abdominal pain, Small for gestati... |
ORPHA:275555 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
Neutral Lipid Storage Disease With Myopathy |
|
Myalgia, Hepatomegaly, Exercise intolerance, Elevated circulating creatine kinase concentration, ... |
OMIM:610717 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine... |
OMIM:619386 |
Complement Component C1S Deficiency |
|
Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Finger joint hypermobility, Generalized hypoplasia o... |
ORPHA:49042 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Nephritis, Retinal neovascularization, Ne... |
OMIM:180080 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Polycystic ovaries, Primary amenorrhea, M... |
OMIM:604367 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Elevated circulating aspartate aminotransfe... |
OMIM:278000 |
Primary Lipodystrophy |
|
Angina pectoris, Myalgia, Hyperlipidemia, Type II diabetes mellitus, Pancreatitis, Splenomegaly, ... |
ORPHA:90970 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis |
OMIM:618847 |
Mannose-Binding Lectin Deficiency |
|
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... |
OMIM:614372 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Osteoporosis, ... |
ORPHA:2410 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Pro... |
ORPHA:528 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Ecz... |
OMIM:243700 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Decreased circulating IgA level, Decreased circulating IgG level, Recurre... |
OMIM:613502 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent... |
OMIM:616022 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Prominent superficial veins, Insulin-resi... |
OMIM:608600 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Exercise intolerance, Diarrhea, Vomiting, Hepatocellular adenoma, Polycystic ovarie... |
ORPHA:79240 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Decreased circul... |
ORPHA:95619 |
Endosteal Hyperostosis, Worth Type |
|
Torus palatinus, Clavicular sclerosis, Generalized osteosclerosis, Mandibular prognathia, Abnorma... |
ORPHA:2790 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:612692 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... |
OMIM:619220 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Dysbetalipoproteinemia |
|
Angina pectoris, Peripheral arterial stenosis, Hepatomegaly, Premature coronary artery atheroscle... |
ORPHA:412 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:232400 |
Immunodeficiency 95 |
|
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... |
OMIM:619773 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Alopecia, Osteoporosis, Carious teeth, Increased... |
OMIM:136300 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Reduced bone mineral density, Rhegmatogenous retinal detachment, Peripheral ... |
ORPHA:891 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism |
ORPHA:3000 |
Lipodystrophy, Familial Partial, Type 2 |
|
Myalgia, Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Labial pseudohypertrophy, Dec... |
OMIM:151660 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnorma... |
ORPHA:79319 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... |
ORPHA:169154 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections |
OMIM:614493 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Severe varicella zoster infection, Decreas... |
OMIM:300853 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce... |
ORPHA:2235 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Neuronal loss in central nervous system, Hyperinsulinemia, Hepatomegaly, Cerebral atrophy, Cirrho... |
ORPHA:363400 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Cerebral cortical atrophy, Nephrotic syndrome, Nephropathy, Cer... |
ORPHA:1192 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae infection... |
ORPHA:276 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Recurren... |
OMIM:613496 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Impotence, Abnormality of endocrine pancreas physio... |
ORPHA:79230 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal heart morphology, Abnormal pancreas morpho... |
ORPHA:139507 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Abnormality of th... |
OMIM:155100 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Chest pain, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Citrullinemia Type Ii |
|
Night sweats, Pancreatitis, Hepatomegaly, Diarrhea, Vomiting, Abnormal eating behavior, Tremor, A... |
ORPHA:247585 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Patchy alopecia, Camptodactyly of finger, Carious teeth, Ename... |
OMIM:226650 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613494 |
Immunodeficiency 64 |
|
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Decreased circulati... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgE level, Increased circu... |
OMIM:618982 |
Propionic Acidemia |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Hyperglycin... |
OMIM:606054 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Lipodystrophy, Familial Partial, Type 4 |
|
Stroke, Oligomenorrhea, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resist... |
OMIM:613877 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Osteopetrosis, Autosomal Dominant 1 |
|
Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Calvarial osteoscler... |
OMIM:607634 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Skin rash, Raynaud phenomenon, Hypertension, Sepsis, Macula... |
ORPHA:247691 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Multiple myeloma, Recurrent infection of the gastrointestinal tract, Ot... |
ORPHA:331235 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitar... |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitar... |
OMIM:145750 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Colitis, Viral hepatitis, Recurrent fungal inf... |
OMIM:209920 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Broad jaw, Thickened cortex of long bones |
ORPHA:53697 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Abnormal hair quantity, Increased bone mineral density, Periapical tooth abscess, Mi... |
ORPHA:3352 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:240500 |
Immunodeficiency 25 |
|
Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, In... |
OMIM:610163 |
Masp2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:613791 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Foot acroosteolysis, Osteolysis, Dystrophic toenail, Dystrophic fin... |
ORPHA:970 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormality of the endocrine system, Abnormal bone ossification, Sclerosis of fo... |
ORPHA:166119 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis |
ORPHA:71267 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... |
ORPHA:54370 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Diarrhea, Gout, Hepatocellular adenoma... |
ORPHA:79259 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Stroke, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Abn... |
ORPHA:1830 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... |
ORPHA:183675 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Sepsis, Chronic sinu... |
ORPHA:443811 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Dystonia, Weight loss, Pericar... |
OMIM:619487 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia, Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
Functioning Gonadotropic Adenoma |
|
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... |
ORPHA:91348 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Recurren... |
ORPHA:331206 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Cerebral cortical atrophy,... |
ORPHA:77296 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Abdominal cramps, Constipation, Allodynia, Abdominal pain, Cachexia, Diarrhea, Vom... |
OMIM:603041 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Myocardial infarction, Decreased HDL cholesterol concentration, Premature coronary artery atheros... |
OMIM:604091 |
Exudative Vitreoretinopathy 1 |
|
Recurrent fractures, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachm... |
OMIM:133780 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased acid sphingomyelin... |
OMIM:607616 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Dentinogenesis imperfecta, Limitation of joint mobility, Patho... |
ORPHA:166277 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... |
OMIM:618805 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, 3-Methylglutaric aciduria, Exerci... |
ORPHA:26791 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cir... |
OMIM:602579 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Dental malocclusion, Osteosclerosis of th... |
ORPHA:210110 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Nail dystrophy, Hyperhidrosis |
ORPHA:79406 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypertriglyceri... |
OMIM:616222 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fractures, Eczematoid dermatitis, Recurrent fungal infections, Joint hypermobility, Ski... |
OMIM:147060 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... |
ORPHA:91349 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Adrenal calcification, Diarrhea, Hypertri... |
ORPHA:75234 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Polycystic o... |
ORPHA:79086 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Thin bony cortex, D... |
OMIM:619795 |
Werner Syndrome |
|
Slender build, Telangiectasia of the skin, Type II diabetes mellitus, Ovarian neoplasm, Thyroid c... |
ORPHA:902 |
Extracranial Carotid Artery Aneurysm |
|
Pain, Stroke, Subarachnoid hemorrhage, Cerebral ischemia, Vasculitis, Total anomalous pulmonary v... |
ORPHA:494424 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Abnormal... |
ORPHA:446 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Seckel Syndrome 10 |
|
Glucose intolerance, Ventricular hypertrophy, Elevated hemoglobin A1c, Elevated circulating lutei... |
OMIM:617253 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... |
ORPHA:439232 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial... |
OMIM:202700 |
Lysosomal Acid Lipase Deficiency |
|
Stroke, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failure, Di... |
ORPHA:275761 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... |
OMIM:300988 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat... |
ORPHA:171706 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Hepatomegaly, Pancreatitis, Stroke, Splenomegaly, Hyperammonemia, Abdominal pa... |
ORPHA:79312 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... |
OMIM:308230 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Micronodular cirrho... |
OMIM:251880 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit... |
ORPHA:85450 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Type I diabetes mellitus, Erythroderma, Recurrent viral infections, De... |
OMIM:606367 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Dentinogenesis imperfecta, Hyperext... |
OMIM:610967 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Serositis, Elevated circulati... |
ORPHA:567544 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... |
ORPHA:70592 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Hyperlipidemia, Pancreatitis, Hepatomegaly, Inflammatory abnormality of the skin... |
ORPHA:565612 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating parathyroid hormone level, Craniof... |
OMIM:122860 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Hypotension, Polyphagia, Postural hypotension with compens... |
ORPHA:369873 |
Galactokinase Deficiency |
|
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Abnorm... |
ORPHA:79237 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Mahvash Disease |
|
Type II diabetes mellitus, Abdominal pain, Palpitations, Pancreatic alpha-cell hyperplasia, Recur... |
OMIM:619290 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:619868 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Multiple myeloma, Abnormal circulating fatty-acid concentration, Glycosuria, Ab... |
ORPHA:2298 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circ... |
OMIM:619111 |
Immunodeficiency 102 |
|
Sepsis, Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lym... |
OMIM:301082 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Decreased body weight, Back pain, Allodynia, Abdominal pain, Recurrent urinary tract infections, ... |
ORPHA:51890 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Immunodeficiency 23 |
|
Vasculitis in the skin, Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster... |
OMIM:615816 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Decreased serum complement C7, Recurrent Neisserial infections |
OMIM:610102 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction |
OMIM:108725 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618187 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy, Renal agenesis, Abnormality of the kidney, Renal dyspla... |
OMIM:615993 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Tremor, Proteinuri... |
OMIM:212065 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe... |
OMIM:618495 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... |
OMIM:612526 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... |
OMIM:613179 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease, Decreased serum complement C6, Reduced hemolytic complement acti... |
OMIM:612446 |
Hermansky-Pudlak Syndrome 9 |
|
Ocular albinism, Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocyt... |
OMIM:614171 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... |
OMIM:201475 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Chronic oral can... |
OMIM:300400 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respira... |
ORPHA:277 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Hepatomegaly, Elevated circulating alkaline phosphatase concentra... |
ORPHA:85443 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Infertility, Iridocyclitis, Type II diabetes mellitus, Pancreatitis, Hand tremor, Delayed menarch... |
ORPHA:412057 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Re... |
OMIM:618048 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elevated circulati... |
ORPHA:263455 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... |
ORPHA:169160 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... |
OMIM:173470 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Vomiting, Cerebral isch... |
ORPHA:90065 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Hepatomegaly, Tall stature, Clitoral hypertrophy, Polycystic ovaries, Decreased... |
OMIM:269700 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Recurrent ... |
OMIM:614963 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Increased circulating IgG ... |
OMIM:209950 |
Tangier Disease |
|
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Decreased HDL cholesterol concentration... |
OMIM:205400 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... |
OMIM:614480 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Nephrotic syndrome, Splenomegaly, Increased circulating IgG level, R... |
OMIM:603909 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hypohidrosis, Carious teeth, Enamel hypoplasia, Thick vermilion border, Sparse lateral eyebrow, R... |
ORPHA:363523 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Decreased... |
OMIM:608594 |
Gaisböck Syndrome |
|
Angina pectoris, Stroke, Gout, Increased circulating renin level, Myocardial infarction, Hyperuri... |
ORPHA:90041 |
Legionnaires Disease |
|
Myalgia, Pancreatitis, Abdominal pain, Splenomegaly, Diarrhea, Arrhythmia, Endocarditis, Hypotens... |
ORPHA:549 |
Perrault Syndrome 1 |
|
High palate, Increased circulating gonadotropin level, Osteoporosis |
OMIM:233400 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Cerebral atrophy, Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava dr... |
OMIM:613759 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Breast carcinoma, Decreased circulating cortisol level, Mal... |
ORPHA:90790 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Hypertension, S... |
OMIM:603278 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Seizure, Joint hypermobili... |
ORPHA:500166 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membra... |
OMIM:619858 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Constipation, Myalgia, Splenomegaly, Ex... |
OMIM:613327 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Type I diab... |
ORPHA:171 |
Reticular Dysgenesis |
|
Lack of T cell function, Sepsis, Impaired T cell function |
OMIM:267500 |
Flynn-Aird Syndrome |
|
Cerebral cortical atrophy, Type II diabetes mellitus, Abnormality of the thyroid gland, Cachexia,... |
ORPHA:2047 |
Hall-Riggs Mental Retardation Syndrome |
|
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Osteoporosis, Microdontia of prima... |
OMIM:234250 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections, Osteoporosis |
OMIM:615468 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Recurrent tonsillitis, Decreased serum complement C3, Recurrent bacterial inf... |
OMIM:613779 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism, Osteoporosis |
OMIM:612463 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Allodynia, Diabetes mellitus |
ORPHA:137596 |
Familial Expansile Osteolysis |
|
Premature loss of teeth, Fragile teeth, Pathologic fracture, Thin bony cortex, Osteolysis |
OMIM:174810 |
Alg1-Cdg |
|
Decreased liver function, Nephrotic syndrome, Cerebral atrophy, Abnormality of the kidney, Hypoal... |
ORPHA:79327 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Congenital hepatic fibrosis, Stage 5 chronic kidney dis... |
ORPHA:3156 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Coronal cr... |
ORPHA:163976 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypercholesterol... |
OMIM:603813 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Orthostatic hypotensi... |
ORPHA:230 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Pancreatitis, Benign gastrointestinal tract tumors, Ovarian cyst, ... |
ORPHA:562 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Vomiting, Cholestasis, Bladder exstroph... |
OMIM:301068 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Diarrhea, Elevated circulating aspartate aminotransferase concentration, Vomiting, ... |
OMIM:608836 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly |
ORPHA:1802 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Hypertriglyceridemia, Tr... |
OMIM:615924 |
Senior-Boichis Syndrome |
|
Polydipsia, Elevated circulating alkaline phosphatase concentration, Reduced number of intrahepat... |
ORPHA:84081 |
Shaheen Syndrome |
|
Enamel hypoplasia, Hypohidrosis, Carious teeth |
OMIM:615328 |
Bleeding Disorder, Platelet-Type, 21 |
|
Eczema, Impaired platelet aggregation, Recurrent viral infections, Thrombocytopenia, Psoriasiform... |
OMIM:617443 |
Relapsing Fever |
|
Myalgia, Chills, Elevated circulating C-reactive protein concentration, Jaundice, Abdominal pain,... |
ORPHA:91547 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Ane Syndrome |
|
Multiple joint contractures, Premature loss of teeth, Decreased serum testosterone concentration,... |
ORPHA:157954 |
Cach Syndrome |
|
Optic neuritis, Pancreatitis, Cerebellar vermis atrophy, Cerebral atrophy, Hepatosplenomegaly, Pr... |
ORPHA:135 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Constipation, Enterocolitis, Steatorrhea, Low plasma citrulline, Diarrhea, Vom... |
ORPHA:95427 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections |
OMIM:613789 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu... |
OMIM:616005 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Episodic vomiting, Increased urinary glycerol, ... |
OMIM:307030 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Anomalous splenopor... |
OMIM:271500 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Constipation, Secondary amenorrhea, Hypercholesterolemia, Inappropriately normal thyroid-stimulat... |
OMIM:301033 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Hypoalbuminemi... |
ORPHA:84090 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent sinopulm... |
ORPHA:486 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Type IV atherosclerotic lesion, Increased LDL cholesterol concentration, Hy... |
OMIM:144300 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Myalgia, Elevated circulating C-... |
OMIM:616050 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Complement Factor D Deficiency |
|
Complement deficiency, Recurrent bacterial infections |
OMIM:613912 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Fatigue,... |
OMIM:616000 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Glycosuri... |
ORPHA:2088 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Myalgia, Arthralgia, Stroke, Arrhythmia, Fatigue, Adrenal hypoplasia, Mitral valve prolapse, Gast... |
ORPHA:230839 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Foam cells, Renal insufficiency, P... |
OMIM:245900 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepati... |
OMIM:615630 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl... |
OMIM:601495 |
Complement Factor H Deficiency |
|
Decreased serum complement factor H, Chronic kidney disease, Recurrent bacterial infections, Hema... |
OMIM:609814 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Hyperlipoproteinemia, Abnormal circulating lipid concentration, Cachexia, Type I diabetes mellitu... |
ORPHA:1979 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Increased bone mineral density |
OMIM:618406 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Skin rash, Restrictive cardiomyopathy, Sudden cardia... |
ORPHA:758 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Small for gestational age, Left ventricular hypertrophy, Renal dysp... |
OMIM:616733 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... |
OMIM:246200 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... |
OMIM:102700 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Granulomatosis With Polyangiitis |
|
Angina pectoris, Elevated circulating C-reactive protein concentration, Pancreatitis, Otitis medi... |
ORPHA:900 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Pyle Disease |
|
Reduced bone mineral density, Delayed eruption of teeth, Limited elbow extension, Carious teeth, ... |
OMIM:265900 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Vomiting, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic... |
ORPHA:36234 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Alg6-Cdg |
|
Failure to thrive, Jaundice, Abnormal enzyme/coenzyme activity, Decreased LDL cholesterol concent... |
ORPHA:79320 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Failure to thrive, Joint stiffness, Lymphopenia, Pustule, Skin rash, Increased ci... |
OMIM:615934 |
Trigeminal Neuralgia |
|
Mandibular pain, Trigeminal neuralgia, Allodynia, Vascular tortuosity, Ocular pain |
ORPHA:221091 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Scorpion Envenomation |
|
Stroke, Priapism, Diarrhea, Glycosuria, Elevated circulating aspartate aminotransferase concentra... |
ORPHA:466677 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Cerebral atrophy, Pulmonary artery atresia, Ventricular septal defect, ... |
ORPHA:306550 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Cryptorchidism, Hypertriglyceridemia, Elevated hepatic transaminase, Hypogonadism, ... |
OMIM:615381 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... |
OMIM:617885 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Prader-Willi Syndrome |
|
Stroke, Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral ... |
ORPHA:739 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... |
OMIM:603471 |
Specific Granule Deficiency 2 |
|
Failure to thrive, Neutropenia, Osteopenia, Recurrent bacterial infections, Sepsis, Thrombocytope... |
OMIM:617475 |
Dominant Beta-Thalassemia |
|
Diarrhea, Abnormality of iron homeostasis, Jaundice, Failure to thrive in infancy, Arthralgia, Hy... |
ORPHA:231226 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Limited elbow extension, Carious teeth, Hyperostosis, Increased suscep... |
OMIM:604922 |
Marburg Hemorrhagic Fever |
|
Pancreatitis, Maculopapular exanthema, Diarrhea, Vomiting, Elevated circulating creatinine concen... |
ORPHA:99826 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the ... |
ORPHA:2377 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Episodic abdominal pain, Tall st... |
ORPHA:785 |
Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis, Elevated circulating sitosterol concentration, Hyperch... |
OMIM:618666 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Hepatic c... |
ORPHA:730 |
Thrombotic Thrombocytopenic Purpura |
|
Stroke, Abdominal pain, Diarrhea, Decreased serum creatinine, Arrhythmia, Hematuria, Myocardial i... |
ORPHA:54057 |
Pediatric-Onset Graves Disease |
|
Keratitis, Polydipsia, Graves disease, Hepatomegaly, Increased circulating free T3, Diarrhea, Tre... |
ORPHA:525731 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Sepsis, Hypoplastic spleen, Shawl scrotum, Microphallus, Adrenal ... |
OMIM:617053 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Microscopic Polyangiitis |
|
Pancreatitis, Diarrhea, Hematuria, Uveitis, Increased inflammatory response, Gastrointestinal hem... |
ORPHA:727 |
Pseudohypoparathyroidism Type 1B |
|
Diaphyseal sclerosis, Decreased response to growth hormone stimulation test, Increased bone miner... |
ORPHA:94089 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abd... |
ORPHA:567548 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
Athrombia, Essential |
|
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time |
OMIM:209050 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulm... |
OMIM:308240 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Otitis media, Eczema, Sepsis, Sudden cardiac death, Hematochezia, Prolonged bleeding t... |
ORPHA:906 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... |
ORPHA:125 |
Lcat Deficiency |
|
Premature coronary artery atherosclerosis, Decreased glomerular filtration rate, Decreased circul... |
ORPHA:650 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Hypoglycemia,... |
OMIM:617575 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocar... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocar... |
ORPHA:99228 |
Monosomy X |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocar... |
ORPHA:99226 |
Turner Syndrome |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocar... |
ORPHA:881 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Increased circulating antibody level, Splenomegaly, Extramedullary hematopoies... |
OMIM:615285 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Abdominal pain, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Impotence, Elevated circulating C-reactive protein concentration, Constipation,... |
ORPHA:49041 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Exocrine pancreatic insufficiency, Decreased body weight, Hepatome... |
ORPHA:1667 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... |
OMIM:212050 |
Kerion Celsi |
|
Recurrent skin infections, Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutan... |
ORPHA:499 |
Simple Cryoglobulinemia |
|
Complement deficiency, Monoclonal elevation of circulating IgA, Myocardial infarction, Proteinuri... |
ORPHA:91139 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis o... |
OMIM:604213 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Fatigue, ... |
ORPHA:276608 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Myalgia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Abdominal pain, Eczema, ... |
OMIM:615895 |
Immunodeficiency 104 |
|
Splenomegaly, Otitis media, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... |
OMIM:608971 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Hypercholesterolemia, Abd... |
OMIM:615863 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Recurrent bacterial infections, Pulmonary hemorrhage, Aortic regurgitation, Macrot... |
OMIM:603585 |
Immunodeficiency 84 |
|
B-cell lymphoma, Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal absces... |
OMIM:619437 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the young, Recurrent... |
ORPHA:254531 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... |
ORPHA:2968 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Fatigue, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transam... |
OMIM:306000 |
Hermansky-Pudlak Syndrome 2 |
|
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Neutropenia, Ocular al... |
OMIM:608233 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Bowing of limbs... |
OMIM:259440 |
Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Thickened cortex of long bones, Recurrent lower respiratory trac... |
OMIM:253250 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Methioninuria, Pancreatitis, Stroke, Tall stature, Disproportionate tall statu... |
OMIM:236200 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... |
ORPHA:470 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Persistence o... |
OMIM:259710 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... |
ORPHA:449395 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... |
ORPHA:8 |
Bartter Syndrome, Type 2, Antenatal |
|
Failure to thrive, Hyperprostaglandinuria, Small for gestational age, Renal juxtaglomerular cell ... |
OMIM:241200 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... |
ORPHA:391665 |
Transaldolase Deficiency |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Atrial septal ... |
OMIM:606003 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Myalgia, Hyperbilirubinemia, Skin rash, Tachycardia, Arrhythmia, Diarrhea, Hypotension, Vomiting,... |
ORPHA:542323 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Candida esophagitis, N... |
OMIM:619281 |
Benign Schwannoma |
|
Pain, Abnormality of the adrenal glands, Allodynia, Abnormality of the liver |
ORPHA:252164 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Systemic Capillary Leak Syndrome |
|
Constitutional symptom, Myalgia, Pancreatitis, Abdominal pain, Abnormal renal tubule morphology, ... |
ORPHA:188 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Increased bo... |
ORPHA:763 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Myalgia, Palpitations, Hypercholesterolemia |
ORPHA:488650 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Macroorchidism |
OMIM:300886 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, External genital hypoplasia |
ORPHA:177910 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Cockayne Syndrome |
|
Hepatomegaly, Abnormal renal physiology, Proteinuria, Hyperuricemia, Hypertension, Nephrotic synd... |
ORPHA:191 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-/low B cells, ... |
OMIM:615559 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... |
OMIM:619662 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis, Hyperammonemia, Choreoathetosis, Renal insufficiency, Cardiomyopathy |
ORPHA:27 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Elevated ... |
OMIM:269600 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Parathyroid Carcinoma |
|
Polydipsia, Pancreatitis, Constipation, Elevated circulating parathyroid hormone level, Weight lo... |
ORPHA:143 |
Immunodeficiency 96 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Defective T cell proliferation,... |
OMIM:619774 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, D... |
OMIM:616740 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Fish-Eye Disease |
|
Angina pectoris, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Atheroscler... |
ORPHA:79292 |
Beta-Thalassemia Major |
|
Hepatomegaly, Diarrhea, Abnormality of iron homeostasis, Jaundice, Failure to thrive in infancy, ... |
ORPHA:231214 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hypot... |
OMIM:608104 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, 3-Methylglutaric aciduria, ... |
ORPHA:20 |
Melas |
|
Constipation, Brain atrophy, Exercise intolerance, Diarrhea, Vomiting, Type I diabetes mellitus, ... |
ORPHA:550 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98754 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Hepatomegaly, Cirrh... |
OMIM:606069 |
Coach Syndrome 1 |
|
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephronophthisis, Cirrhosis, Unila... |
OMIM:216360 |