Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Immunodeficiency 18 |
|
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... |
OMIM:615615 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Chest pain, Hypercholesterolemia... |
OMIM:608320 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Hepatomegaly, Insul... |
ORPHA:79083 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... |
OMIM:615897 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at... |
ORPHA:280365 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula... |
OMIM:615238 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Go... |
OMIM:610947 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... |
ORPHA:280356 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Episod... |
ORPHA:324575 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Glomerulo... |
ORPHA:2348 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro... |
OMIM:190320 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Large for gestational age... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Large ... |
ORPHA:276580 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent ear infections, Recurrent pneumonia, Recurrent upper respirator... |
OMIM:614962 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycys... |
ORPHA:79084 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria... |
ORPHA:369 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidros... |
ORPHA:276556 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... |
ORPHA:264580 |
Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ... |
ORPHA:275555 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased... |
ORPHA:435660 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Diabetes mellitus, Hypertrigly... |
OMIM:610717 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:79085 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hypera... |
ORPHA:3000 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Polyphagia, Hypertension, Type II diabetes melli... |
ORPHA:71529 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater... |
OMIM:604367 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... |
OMIM:614372 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... |
OMIM:243700 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Increased T cell count, Increased circulating IgG level, Inflammation of the large in... |
ORPHA:98813 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Dysmenorrhea, Increased... |
ORPHA:79240 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Diabetes mellitus, Precocious pu... |
ORPHA:528 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Elevated transferrin satur... |
OMIM:613313 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Acute pancreatitis, Insulin-resi... |
OMIM:608600 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... |
ORPHA:2790 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Decreased circulating IgG3 level, Recurrent viral upper respira... |
OMIM:619773 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... |
OMIM:273800 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ... |
OMIM:232400 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Caudate atrophy, Tremor, Insulin resistance, H... |
ORPHA:363400 |
Flynn-Aird Syndrome |
|
Alopecia, Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased... |
OMIM:136300 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyce... |
ORPHA:412 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Proteinuria, Tremor, Cryptorchidism, Arterial stenosis, Cerebra... |
ORPHA:1192 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... |
OMIM:300853 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... |
ORPHA:247585 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... |
ORPHA:169154 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Hepat... |
OMIM:151660 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Eales Disease |
|
Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Trans... |
ORPHA:40923 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Decreased specific pneumococcal antibody level, Glomerulonephri... |
OMIM:613496 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Eczema, Increased level of hippuric acid in urine, Cerebellar hemorrh... |
OMIM:606054 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Myocardial infarction, Abnormalit... |
OMIM:155100 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Impaired ... |
ORPHA:849 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... |
ORPHA:79230 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... |
OMIM:301033 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatic failure, Elevated circulating... |
OMIM:617872 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H... |
OMIM:226650 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Retinal cotton wool spot, Skin rash, Pneumonia, P... |
ORPHA:247691 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati... |
ORPHA:180229 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Skin rash, Recurrent viral infections, Recurrent mycobacterial i... |
ORPHA:275 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, Hyperammonemia, Choreo... |
ORPHA:79312 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... |
OMIM:240500 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis, Gluco... |
OMIM:145750 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Diabetes mellitus, Liver abscess, Cholangitis, Ov... |
ORPHA:69663 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Non-Hodgkin lymphoma, Recurrent staphylococcal infections, Lymphaden... |
ORPHA:331235 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertension, Stro... |
OMIM:613877 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Broad jaw, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Rec... |
OMIM:610163 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Increased bone mineral density, Dental enamel pits, Periapical tooth absc... |
ORPHA:3352 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Cholangitis,... |
OMIM:209920 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Osteolysis, Foot acroosteolysis, Hyperhidrosis, Reduced bone mineral density, Abnormal cortical b... |
ORPHA:970 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Osteoporosis, Short philtrum |
ORPHA:71267 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Self-mutilation... |
OMIM:619487 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... |
ORPHA:77296 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Recurrent urinary tract infections, Anorexia, Abdominal pain, Hyperhidrosis, Allodynia... |
ORPHA:51890 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Ischemic stroke, Sta... |
ORPHA:1830 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Glutaric aciduria, 3-Methylglutaric aciduria,... |
ORPHA:26791 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he... |
OMIM:617253 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa... |
ORPHA:79259 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ... |
ORPHA:91348 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Foam cells with lamellar inclusion bodies,... |
OMIM:607616 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Gastroparesis, Cachexia, Abdominal pain, Diarrhe... |
OMIM:603041 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Myocardial infarction, Premature coronary artery atheros... |
OMIM:604091 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, Ch... |
OMIM:618805 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... |
ORPHA:171706 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,... |
OMIM:147060 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Diarrhea, Hepatic failure, Steatorrhea, Renal cyst, Proximal tubulopathy, Hypoalbum... |
OMIM:602579 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Diarrhea, Arte... |
ORPHA:75234 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene... |
ORPHA:166277 |
Aapoaiv Amyloidosis |
|
Back pain, Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine concentra... |
ORPHA:439232 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal... |
ORPHA:446 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Attention deficit hyperactivity diso... |
ORPHA:369873 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Cerebral white matter atrophy, Epileptic spasm, Bilateral tonic-clonic seizure wit... |
ORPHA:599373 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Mi... |
ORPHA:275761 |
Insulinoma |
|
Nonketotic hypoglycemia, Fatigue, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic is... |
ORPHA:97279 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular mor... |
ORPHA:902 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ... |
ORPHA:494424 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Decreased circula... |
OMIM:619795 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Torus palatinus, Calvarial osteoscler... |
OMIM:607634 |
Cach Syndrome |
|
Cerebellar atrophy, Premature ovarian insufficiency, Atrophy/Degeneration affecting the brainstem... |
ORPHA:135 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney... |
OMIM:251000 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... |
ORPHA:79086 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie... |
ORPHA:79237 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Postna... |
ORPHA:254516 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum estradiol, Elevated... |
OMIM:618187 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... |
OMIM:620357 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hypothyroidism,... |
OMIM:606367 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ... |
ORPHA:565612 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal... |
ORPHA:85450 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Impairment of activities of daily living, Hypopituitarism, Left ventricular hypertrophy, Myocardi... |
ORPHA:90065 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia... |
ORPHA:90790 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... |
ORPHA:2688 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Pan... |
OMIM:615214 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Abdominal pain, Recurrent pancreatitis, Type II diabetes melli... |
OMIM:619290 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Skin... |
OMIM:300400 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Tremor, Increased body weight, Hyperhidrosis, Renal Fanconi syndrome, ... |
ORPHA:263455 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Complement Component 7 Deficiency |
|
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... |
OMIM:610102 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infections, Impa... |
OMIM:617443 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Hyperlipidemia, Delayed p... |
OMIM:232200 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... |
OMIM:122860 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... |
OMIM:144750 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction |
OMIM:108725 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... |
ORPHA:567544 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... |
OMIM:201475 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract... |
OMIM:613179 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e... |
OMIM:610967 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Postural tremor, Corpus callosum atrophy, Hypothyroidism, Iridocyclitis, Hand... |
ORPHA:412057 |
Complement Component 6 Deficiency |
|
Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre... |
OMIM:612446 |
Legionnaires Disease |
|
Anorexia, Arthralgia, Infectious encephalitis, Hyponatremia, Fatigue, Abdominal pain, Hepatitis, ... |
ORPHA:549 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Tremor, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypocholesterolemia, Hepatic ste... |
OMIM:212065 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Tremor, Cerebral atrophy, Dystonia, Neuronal l... |
OMIM:615924 |
Senior-Boichis Syndrome |
|
Diffuse cerebral atrophy, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal h... |
ORPHA:84081 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the liver, Hypoalbumine... |
ORPHA:85443 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Thrombocytopenia, Ocular albinism, Abnormal platelet aggregation, Leuk... |
OMIM:614171 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71526 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin... |
ORPHA:2298 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Precocious atherosclerosis, Pulmonar... |
ORPHA:444490 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
Gaisböck Syndrome |
|
Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Fatigu... |
ORPHA:90041 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ... |
OMIM:618048 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... |
ORPHA:79506 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis |
OMIM:620137 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Primary ... |
OMIM:612526 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Fragile X Syndrome |
|
Sinusitis, Self-injurious behavior, Otitis media, Attention deficit hyperactivity disorder, Macro... |
ORPHA:908 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Weight loss, Hepatospleno... |
OMIM:209950 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophi... |
ORPHA:169160 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... |
ORPHA:562 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Elevated hemo... |
OMIM:269700 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... |
OMIM:614201 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
Perrault Syndrome 1 |
|
High palate, Increased circulating gonadotropin level, Osteoporosis |
OMIM:233400 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev... |
OMIM:613327 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... |
ORPHA:169079 |
Alg1-Cdg |
|
Cerebellar atrophy, Renal insufficiency, Abnormality of the kidney, Chronic diarrhea, Cerebral at... |
ORPHA:79327 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... |
OMIM:300624 |
Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
Flynn-Aird Syndrome |
|
Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes melli... |
ORPHA:2047 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hypertriglycer... |
OMIM:608594 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Hip contracture, Microretrognathia, Micrognathia, Carious teeth, Pierre-Ro... |
OMIM:618363 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis |
OMIM:603813 |
Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hypoplasia of the primary ... |
OMIM:234250 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Increased ci... |
ORPHA:277 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Hypogonadotropic hypogonadism, Decreased response to growt... |
ORPHA:157954 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... |
OMIM:613779 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Diabetes mellitus, Allodynia |
ORPHA:137596 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Diarrhea, Eleva... |
ORPHA:230 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections... |
ORPHA:486 |
Familial Expansile Osteolysis |
|
Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cortex, Fragile teeth |
OMIM:174810 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal inflammation, Chron... |
OMIM:619858 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Proteinuria, Sple... |
OMIM:232220 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... |
OMIM:615993 |
Relapsing Fever |
|
Elevated hepatic transaminase, Fatigue, Tachycardia, Increased circulating lactate dehydrogenase ... |
ORPHA:91547 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chr... |
ORPHA:3156 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure |
OMIM:300886 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Carious teeth, Hypohidrosis, Thick vermilion border, Enamel hyp... |
ORPHA:363523 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration |
OMIM:613789 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting,... |
OMIM:608836 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Diarrhea, Elevated circulating creatinine... |
OMIM:608104 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Torticollis, Decreased circulating cerulop... |
ORPHA:48818 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Vesi... |
OMIM:301068 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Enterocolitis, Weight loss, Ch... |
ORPHA:95427 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of... |
ORPHA:171 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis, Pseudohypoparathyroidism |
OMIM:612463 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Uveitis, Bloody diarrhea... |
ORPHA:99826 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... |
OMIM:144300 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections, Partial functional complement factor D deficiency |
OMIM:613912 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Hypoglycemia, Elevated circulating aspar... |
OMIM:617093 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... |
ORPHA:84090 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Hypohidrosis |
OMIM:615328 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Chronic kidney... |
OMIM:615630 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Partington Syndrome |
|
Macroorchidism, Facial telangiectasia |
ORPHA:94083 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hy... |
OMIM:301014 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
Autoinflammation With Infantile Enterocolitis |
|
Fatigue, Skin rash, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemor... |
OMIM:616050 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... |
ORPHA:53035 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue, Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Hyp... |
ORPHA:276608 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Depletion of component... |
OMIM:609814 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... |
OMIM:616005 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Arthralgia, Otitis media, Chron... |
ORPHA:900 |
Pediatric-Onset Graves Disease |
|
Tremor, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration... |
ORPHA:525731 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Flank pain, Large vessel vasculi... |
ORPHA:49041 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... |
ORPHA:163976 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... |
OMIM:601495 |
Trigeminal Neuralgia |
|
Trigeminal neuralgia, Ocular pain, Vascular tortuosity, Mandibular pain, Allodynia |
ORPHA:221091 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... |
OMIM:620366 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, Obesity, T... |
ORPHA:2377 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl... |
ORPHA:1979 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Hyperhidrosis, Vomiti... |
ORPHA:466677 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Fatigue, Precocious atherosclerosis, Adrenal hypoplasia, Mitral valv... |
ORPHA:230839 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Diabetes mellitus, Maculopapular exanthem... |
ORPHA:79147 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Mirage Syndrome |
|
Adrenal hypoplasia, Sepsis, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumon... |
OMIM:617053 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... |
ORPHA:284180 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... |
OMIM:615888 |
Donohue Syndrome |
|
Clitoral hypertrophy, Postnatal growth retardation, Precocious puberty, Long penis, Hyperinsuline... |
OMIM:246200 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... |
OMIM:616733 |
Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Jaundice, D... |
ORPHA:79320 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
Analbuminemia |
|
Fatigue, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL ... |
OMIM:616000 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Fanconi-Bickel Syndrome |
|
Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate... |
ORPHA:2088 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Cerebral atrophy, Hepatic fibrosis, Decreased liver function, Pulmonar... |
ORPHA:306550 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer... |
OMIM:603278 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, R... |
OMIM:617475 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Fatigue... |
ORPHA:20 |
Central Precocious Puberty In Male |
|
Astrocytoma, Acne, Abnormality of the testis size, Aggressive behavior, Craniopharyngioma, Pituit... |
ORPHA:649929 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... |
ORPHA:36234 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Failure to thrive, Skin rash, Recurrent respiratory infections, Joint stif... |
OMIM:615934 |
Estrogen Resistance Syndrome |
|
Acne, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Increased c... |
ORPHA:785 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Dominant Beta-Thalassemia |
|
Arthralgia, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, High-output congestive heart fa... |
ORPHA:231226 |
Bloom Syndrome |
|
Recurrent herpes, Severe varicella zoster infection, Adipose tissue loss, Uveitis, Neoplasm, Neop... |
ORPHA:125 |
Microscopic Polyangiitis |
|
Sinusitis, Uveitis, Arthralgia, Glomerulopathy, Abdominal pain, Vasculitis, Oliguria, Episcleriti... |
ORPHA:727 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Aut... |
OMIM:102700 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Flexion contracture, Bruxism, Macroorchidism, Male hypogonadism, Wrist flexion cont... |
OMIM:300055 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia, Premature coronary artery at... |
OMIM:618666 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... |
ORPHA:398079 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Obesity, ... |
ORPHA:254531 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism, Enamel hypoplasia, Abnormal dental enamel morphology |
ORPHA:139474 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Telangiecta... |
OMIM:615381 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell... |
OMIM:617575 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Abdominal pain, Diarrhea, Abnormal lacta... |
ORPHA:54057 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Neonatal insuli... |
ORPHA:1667 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal morphology,... |
OMIM:182290 |
Huntington Disease |
|
Caudate atrophy, Dystonia, Abnormal libido, Oral-pharyngeal dysphagia, Aggressive behavior, Cereb... |
ORPHA:399 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Back pain, Torticollis, Metrorrhagia, Elevated carcinoma antigen 125 le... |
ORPHA:370348 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Recurrent bacterial infections, Aminoac... |
OMIM:603585 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain |
OMIM:118830 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary embolism, ... |
ORPHA:567548 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Fatigue, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Wei... |
ORPHA:65682 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Elevated... |
ORPHA:730 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypertriglyceridemia, Hypoglycemia, Splenom... |
OMIM:306000 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Seizure, Hypoplasia of the c... |
OMIM:604213 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Proteinuria, Decreased response to growth hormone stimulation test, Hypothyro... |
OMIM:618347 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Myalgia, Palpitations |
ORPHA:488650 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... |
ORPHA:101330 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... |
OMIM:608971 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... |
OMIM:259440 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental m... |
OMIM:253250 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Myocardial infarction, Methioninuria, Hyperhomocystinemia, Mitral valve prolapse,... |
OMIM:236200 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased ... |
OMIM:241200 |
Systemic Capillary Leak Syndrome |
|
Fatigue, Pericarditis, Renal insufficiency, Abdominal pain, Myocarditis, Diarrhea, Oliguria, Weig... |
ORPHA:188 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap... |
ORPHA:91139 |
Parathyroid Carcinoma |
|
Bone pain, Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating pa... |
ORPHA:143 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Eczema, Cryptorchidism, Aplasia/Hypoplasia of the testes, Hernia of the abdo... |
ORPHA:3055 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... |
OMIM:259710 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Prolonged bleeding time, Reduced natura... |
OMIM:608233 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Fatigue, Skin rash, ... |
ORPHA:542323 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Obesity, Overgrowth, Hepatic steatosis |
OMIM:620195 |
Immunodeficiency 96 |
|
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... |
OMIM:619774 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Ventricular septal defect, Splenomegaly, Patent ductus a... |
OMIM:606003 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Cockayne Syndrome |
|
Urinary incontinence, Retinal arteriolar constriction, Gastroesophageal reflux, Intention tremor,... |
ORPHA:191 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Dysplastic corpus callosum,... |
OMIM:620317 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Pancreatitis |
ORPHA:27 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Hyperhidrosis, Nail dystrophy, Enamel hypoplasia, Anemia |
ORPHA:79406 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... |
ORPHA:763 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating complemen... |
OMIM:615559 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia, Failu... |
OMIM:615863 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Ck Syndrome |
|
Dental crowding, Micrognathia, Retrognathia, High palate, Malar flattening, Abnormal cortical bon... |
OMIM:300831 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Melas |
|
Wolff-Parkinson-White syndrome, Vomiting, Nephropathy, Hypothyroidism, Hypoparathyroidism, Hypogo... |
ORPHA:550 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Gluc... |
ORPHA:99413 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... |
OMIM:617388 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Gluc... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Gluc... |
ORPHA:99226 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:606407 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Gluc... |
ORPHA:881 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recu... |
OMIM:619824 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Beta-Thalassemia Major |
|
Arthralgia, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly, High-output conge... |
ORPHA:231214 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Unilateral renal agen... |
OMIM:216360 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Bone pain, Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating pa... |
ORPHA:99880 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... |
ORPHA:48435 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Atheroscler... |
ORPHA:79292 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... |
OMIM:615285 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Avian Influenza |
|
Elevated hepatic transaminase, Fatigue, Elevated circulating creatine kinase concentration, Eleva... |
ORPHA:454836 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, External genital hypoplasia |
ORPHA:177910 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Small for gestational age, Transient ischemic attack, Proteinuria, Bilateral... |
OMIM:242900 |
Immunodeficiency 97 With Autoinflammation |
|
Fatigue, Recurrent urinary tract infections, Hypertriglyceridemia, Recurrent skin infections, Ecz... |
OMIM:619802 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Nail dystrophy, Enamel hypoplasia, Sparse body... |
ORPHA:79402 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis,... |
OMIM:616719 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resistance,... |
OMIM:209900 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure, Atherosclerosis, Dysphagia |
ORPHA:2724 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... |
OMIM:137920 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis,... |
ORPHA:99827 |
Hemochromatosis, Type 4 |
|
Fatigue, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferri... |
OMIM:606069 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Small for gestational age, Ventricular septal defect, Patent ductus arteriosus,... |
OMIM:617021 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect... |
OMIM:620210 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Camptodactyly of finger, Attention deficit hyperactivity disorder |
ORPHA:776 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Choreoathetosis, Dy... |
ORPHA:289916 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Thin upper lip vermilion, Enamel hypoplasia, Hyperhidrosis |
OMIM:613576 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Dystonia, Abnormal circulating carnitine concentration, Choreoathetosis, Decr... |
ORPHA:431361 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Diffuse cerebral atrophy, Aggressive behavior, Stroke-like episode, Vascular granular ... |
ORPHA:199354 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Atopic dermatitis, Retinal neovascularization |
OMIM:619074 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum, Skeletal musc... |
OMIM:613162 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Recurrent respiratory infections, Enamel hypoplasia, Neutropenia |
ORPHA:2643 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Hypertension, Nephrot... |
ORPHA:110 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Generalized osteosclerosis, Micrognathia |
ORPHA:1423 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Abnormality of thrombocytes, ... |
OMIM:612840 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level, Decreased p... |
OMIM:615767 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti... |
ORPHA:859 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Reduced bone mineral density, Do... |
OMIM:617052 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... |
ORPHA:401923 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Postnatal growth retardation, Cr... |
ORPHA:96184 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... |
OMIM:277900 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... |
ORPHA:31825 |
Acatalasemia |
|
Severe periodontitis, Reduced catalase level, Arteriosclerosis, Type II diabetes mellitus, Type I... |
ORPHA:926 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Weight lo... |
ORPHA:100024 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Macroorchidism, Neonatal hyperbilirubinemia, Pituita... |
ORPHA:90674 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c... |
OMIM:616516 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... |
OMIM:300635 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Hyperhidrosis, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tu... |
ORPHA:340 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior, Overfriendliness |
OMIM:618010 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Boutonneuse Fever |
|
Renal insufficiency, Skin rash, Maculopapular exanthema, Vasculitis, Leukopenia, Increased circul... |
ORPHA:83313 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis,... |
OMIM:619693 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre... |
ORPHA:168558 |
Schaaf-Yang Syndrome |
|
Impulsivity, Cryptorchidism, Flexion contracture, Hypogonadism, Skin-picking, Camptodactyly, Arth... |
OMIM:615547 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Fatigue, Renal insufficiency, Elevated circulating C... |
ORPHA:247353 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... |
ORPHA:367 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality... |
ORPHA:2552 |
Dpm1-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine ki... |
ORPHA:79322 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Tachycardia, Abdominal colic, Anorexia, Nausea, Abdomi... |
ORPHA:521219 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Decreased beta-galactosidase activity, Dystonia, Foam cells |
OMIM:230650 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Complex Regional Pain Syndrome |
|
Limb pain, Allodynia |
ORPHA:83452 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c... |
ORPHA:264675 |
Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Hypohidro... |
ORPHA:633 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Clitoral hypoplasia, Compulsive ... |
ORPHA:398069 |
Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Gas... |
ORPHA:79329 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Congenital hypothyroidism, Colitis, Hypoalbuminemia |
ORPHA:88643 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia |
OMIM:617119 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Dystonia, Pancreatitis, Dysphagia |
OMIM:618230 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis |
ORPHA:70578 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... |
ORPHA:1359 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Secretory diarrhea, Bloody diarrhea, Vomiting, Hypocalcemia, Nephrotic range proteinuria,... |
ORPHA:544482 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hypergl... |
OMIM:222100 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal... |
ORPHA:228402 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro... |
ORPHA:217260 |
Spermatogenic Failure 14 |
|
Abnormal prolactin level, Abnormal circulating testosterone concentration, Elevated circulating f... |
OMIM:615842 |
Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature arteriosclerosis, Hype... |
ORPHA:79474 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Sparse pubic hair, Increased circulating gonadotropin level, Reduced bo... |
ORPHA:243 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal... |
OMIM:112240 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe... |
OMIM:619437 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea... |
OMIM:618969 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:444463 |
Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Cerebral dysmyelination, Microcephaly, Congenital laryngeal stridor... |
OMIM:312080 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Microcephaly, Respiratory insufficiency due to muscle weakness, Dysplast... |
OMIM:618276 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis, Cerebellar vermis atrophy, Intention... |
ORPHA:466794 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Anhidrosis, Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint c... |
ORPHA:69087 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hepatic steatosis, Hypertriglyceridemia, Obesity, Cholestasis, Hepat... |
ORPHA:209902 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Inguinal hernia, Eczema, Aggressive behavior, Cryptorchidism, Self-injurious behavior |
OMIM:618362 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Foam cells with lamellar inclusion bodies, Elevated circulating aspartate aminotran... |
OMIM:257200 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased ... |
OMIM:601678 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Limitation of joint mobility, Hypoplastic frontal sinuses, Cleft ... |
ORPHA:90650 |
Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hyp... |
OMIM:618329 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... |
ORPHA:411634 |
Gray Platelet Syndrome |
|
Myelofibrosis, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis... |
OMIM:139090 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Curly hair, Increased bone mineral density, Obtuse angle of mandible, Micrognathia, W... |
ORPHA:85184 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Osteoporosis, Pseudohypoparathyroidism, Elevated circulating parathyro... |
OMIM:103580 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Nephritis, Infectious enceph... |
ORPHA:73263 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Osteop... |
OMIM:612462 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Impaired pl... |
OMIM:601399 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... |
OMIM:129400 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ... |
ORPHA:53 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Vomitin... |
ORPHA:14 |
Primary Biliary Cholangitis |
|
Fatigue, Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Abnormality... |
ORPHA:186 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim... |
OMIM:619534 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
48,Xyyy Syndrome |
|
Recurrent upper respiratory tract infections, Thick lower lip vermilion, Irregularly spaced teeth... |
ORPHA:99329 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... |
OMIM:616636 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Recurrent viral infections, Recurrent aspiration pneumonia, Psoriasiform dermatitis, ... |
ORPHA:221139 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, Abnormal mitral valve morphology,... |
ORPHA:740 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Contractures of the large join... |
ORPHA:324410 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Col... |
ORPHA:37042 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive in infancy, ... |
OMIM:619510 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Osteolysis involving bones... |
ORPHA:73 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Gen... |
OMIM:614856 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:609821 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Myelofibrosis, Increased RBC distribution w... |
OMIM:187900 |
Adrenocortical Carcinoma |
|
Increased body weight, Hyperhidrosis, Abdominal pain, Adrenocortical carcinoma, Abnormality of re... |
ORPHA:1501 |
Pontocerebellar Hypoplasia Type 2 |
|
Apnea, Abnormal cortical gyration, Bilateral tonic-clonic seizure with generalized onset, Oral-ph... |
ORPHA:2524 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Intractable diarrhea, Hepatomegaly, Hypospadias, Abnormality o... |
OMIM:222470 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... |
OMIM:617744 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul... |
OMIM:619752 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Papilloma, Hemangioma |
ORPHA:464318 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Myoca... |
ORPHA:56 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ab... |
OMIM:235200 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Global brain atrophy, Hypercholesterolemia, Hypoalbuminemia, Cerebellar vermis atrophy |
ORPHA:94124 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Insulin re... |
OMIM:615980 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eczema, Eosinophili... |
ORPHA:353298 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Craniosynostosis, Eosinophilia, Keratitis, Increased ci... |
OMIM:618523 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Dyspareunia, F... |
ORPHA:36426 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Dela... |
ORPHA:168569 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Arthralgia, Infectious encephaliti... |
ORPHA:117 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Nausea, Abdominal pain, Diarrhea, Weight loss, Hypoalbumin... |
ORPHA:2494 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Vomiting, Prolonged QTc interval, Mildly elevated creatine k... |
ORPHA:66529 |
Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ... |
OMIM:215045 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Increased level of hi... |
OMIM:248600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse ... |
OMIM:264700 |
Precocious Puberty, Central, 1 |
|
Isosexual precocious puberty, Hypothyroidism, Elevated circulating follicle stimulating hormone l... |
OMIM:176400 |
Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia |
ORPHA:37748 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia, Cryptorchidism, Deep philtrum, Thrombocytopenia |
ORPHA:1237 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... |
OMIM:614700 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Increased circulating cortis... |
ORPHA:189427 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple... |
OMIM:603552 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... |
ORPHA:449400 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Elevated urinary prostaglandin E2 level, Periosteal thickening of long tubular bones, Acne, Sebor... |
OMIM:167100 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis |
OMIM:614009 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Exercise intolerance, Hypertriglyceridemia, Hypothyroidism, Hepato... |
OMIM:619013 |
X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... |
ORPHA:163971 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Abdominal pain, Peritonitis, Diarrhea, Elevated circ... |
ORPHA:90038 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... |
ORPHA:98908 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Right atrial enlarg... |
OMIM:614008 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... |
OMIM:617156 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respira... |
OMIM:615758 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Recurrent respiratory infections, Osteoporosis, Delayed ossification o... |
OMIM:184260 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hem... |
ORPHA:251004 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abnormal pericardium morpho... |
ORPHA:67 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Renal cyst, Hypoalbuminemia, Vomiting, Ga... |
OMIM:270400 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Arthralgia, Nephr... |
ORPHA:342 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Hypercholesterolemia, Hypoalbuminemia, Cerebral atrophy |
OMIM:607250 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Abdominal pain, Hypothyroidism, Diarrhe... |
OMIM:226300 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhe... |
ORPHA:2070 |
Grant Syndrome |
|
Micrognathia, Open bite, Decreased skull ossification, Joint hyperflexibility, Abnormal cortical ... |
ORPHA:2097 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaired renal concen... |
ORPHA:89938 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Alopecia, Flexion contracture |
OMIM:203550 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... |
ORPHA:251393 |
Pediatric Hepatocellular Carcinoma |
|
Fatigue, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Port... |
ORPHA:33402 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Failure to thrive in infancy, Decreased circulating total IgM, ... |
OMIM:618987 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Pustule, Recurrent viral inf... |
ORPHA:35078 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema, Porphyrinuria |
OMIM:176090 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Carious teeth, Thr... |
OMIM:259700 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro... |
OMIM:619293 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teet... |
ORPHA:659 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypo... |
ORPHA:84064 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Anorexia, Splenomegaly, Night sweats, Weigh... |
ORPHA:507 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty,... |
ORPHA:819 |
Werner Syndrome |
|
Low back pain, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotrans... |
OMIM:277700 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... |
OMIM:277480 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased... |
OMIM:300972 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... |
OMIM:616589 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolyti... |
OMIM:616100 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Stomatitis, Spider hemangioma, Chronic pancreati... |
OMIM:232240 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Impaired glucose tolera... |
OMIM:606721 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia,... |
OMIM:615986 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Atherosclerosis, Abnormal ... |
ORPHA:425 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Iris... |
ORPHA:167 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Chronic mucocutane... |
ORPHA:36913 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Recurrent viral infections, Leukopenia, T lym... |
OMIM:242840 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susc... |
ORPHA:289157 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat... |
OMIM:231200 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Congestive heart failure, Patent ductus arteriosus, Recurrent pneumoni... |
OMIM:617303 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... |
OMIM:256300 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... |
ORPHA:567983 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Abnorm... |
ORPHA:79324 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ... |
OMIM:600785 |
Hamamy Syndrome |
|
Osteopenia, Microcytic anemia, Micrognathia, High palate, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Decreased response to growth hormone s... |
ORPHA:94089 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair |
OMIM:601453 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... |
OMIM:619705 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Vomiting, Arthralgia, Abdomina... |
ORPHA:3260 |
Senior-Loken Syndrome 9 |
|
Obesity, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypogonadism,... |
OMIM:616629 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Proteus Syndrome |
|
Splenomegaly, Open mouth, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, T... |
OMIM:176920 |
Acute Lung Injury |
|
Shock, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein concentration, Diff... |
ORPHA:178320 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Crypto... |
OMIM:612541 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Ocular albinism, A... |
OMIM:614075 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... |
ORPHA:47612 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis |
OMIM:618463 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Splenomegaly, Meningit... |
ORPHA:36412 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Fatigue, Renal... |
ORPHA:537 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Cerebral calcification, Dyspne... |
ORPHA:79443 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Small scrotum, Hypogonadotropic hypogonadism, Decreased respons... |
OMIM:176270 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Enamel hypoplasia, Anemia |
OMIM:226670 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Osteoporosis, Cleft palate, Hypoplasia of the ovary, De... |
OMIM:615300 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Dystonia, CNS foam cells, Bone-marrow foam cells, L... |
OMIM:257220 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... |
OMIM:618086 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Wagro Syndrome |
|
Nephroblastoma, Multiple exostoses, Aggressive behavior, Hypertension, Agitation, Compulsive beha... |
OMIM:612469 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Nausea, Increased circulating ferritin concentration, Splenomegaly, ... |
OMIM:222700 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Benign Schwannoma |
|
Pain, Abnormality of the liver, Abnormality of the adrenal glands, Allodynia |
ORPHA:252164 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Elevated circulating luteinizing horm... |
ORPHA:99429 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone con... |
OMIM:608747 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... |
ORPHA:33543 |
Diastrophic Dysplasia |
|
Recurrent respiratory infections, Increased bone mineral density, Camptodactyly of finger, Joint ... |
ORPHA:628 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... |
ORPHA:90795 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Nail dystrophy, Enamel hypoplasia, Anemia |
ORPHA:79405 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Tremor, Axonal degenerati... |
OMIM:208920 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abnormality of the male g... |
ORPHA:228123 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, Leukocytosi... |
OMIM:619652 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent uppe... |
OMIM:600802 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neutrophil morphology, Sepsis, Papilloma... |
ORPHA:51636 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating ... |
ORPHA:94086 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Abdominal pain, Rena... |
ORPHA:93126 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Ov... |
ORPHA:391372 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618117 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneu... |
OMIM:301078 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Generalized-onset seizure, Retrobulbar optic neuritis, Dysplastic corpus callosum, S... |
OMIM:619737 |
Rift Valley Fever |
|
Skin rash, Retinitis, Hematemesis, Thrombocytopenia, Severe viral infection, Retinal hemorrhage, ... |
ORPHA:319251 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... |
ORPHA:54595 |
Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosi... |
ORPHA:3392 |
Yellow Fever |
|
Anuria, Elevated circulating creatine kinase concentration, Arthralgia, Vomiting, Chills, Nausea,... |
ORPHA:99829 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Cleft palate, Abnorma... |
ORPHA:2635 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Tubulo... |
ORPHA:91500 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Abnormal trabecular bone morphology, Splenomegaly, Recurrent pne... |
OMIM:612301 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... |
ORPHA:2457 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ... |
ORPHA:98855 |
Gapo Syndrome |
|
Dysmenorrhea, Abnormal cerebral vascular morphology, Nephrolithiasis, Oligozoospermia, Hypogonadi... |
ORPHA:2067 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Leukocytosis, Severe infection, Increased circulating IgG level... |
ORPHA:206594 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... |
OMIM:618955 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Wide anterior fontanel, Cleft palate, Downturned co... |
ORPHA:163649 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:1798 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome... |
OMIM:618348 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly... |
ORPHA:2137 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... |
ORPHA:273 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Atherosclerosis |
OMIM:610842 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dystonia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulati... |
ORPHA:64753 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399805 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ... |
ORPHA:261 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor... |
OMIM:616294 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ... |
ORPHA:98853 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... |
ORPHA:540 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Otitis media, Rod-cone dystrophy, Chronic sinusitis,... |
OMIM:300455 |
Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Abnormal cortical bone morphology |
ORPHA:2512 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Skin rash, Abnormal testis morphology, Neoplasm of the skin |
ORPHA:317 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... |
ORPHA:2780 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level |
OMIM:311360 |
Congenital Enterovirus Infection |
|
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Cardiomyopa... |
ORPHA:292 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Diabetes mellitus, Neutrophilia, Pneumonia, Nonproductive cough, Dys... |
ORPHA:36238 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Bronchiectasis, Sta... |
OMIM:619468 |
Chylomicron Retention Disease |
|
Failure to thrive, Diarrhea, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemi... |
OMIM:246700 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Abdominal pain, Diarrhe... |
ORPHA:319218 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Hepatic fibrosis, Dystonia |
OMIM:617341 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79444 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Increas... |
ORPHA:90791 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... |
OMIM:620135 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Fatigue, Minimal change glomerulonephritis, Pulmonary embolism, Abdominal pain, Hyperlipidemia, C... |
ORPHA:567546 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Post... |
OMIM:616263 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Flexion contracture, Compulsive behaviors, Macroorchidism |
OMIM:309520 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Small for gestational age, Proteinuria, Unilater... |
ORPHA:2260 |
Premature Ovarian Failure 2A |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300511 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, CNS foam ce... |
ORPHA:333 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... |
OMIM:242700 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Recurrent hypoglycem... |
OMIM:124000 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ... |
ORPHA:98863 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle... |
OMIM:241410 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Sparse axillar... |
ORPHA:91355 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Elevated circ... |
OMIM:618183 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Alopecia, Streak... |
ORPHA:2232 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Congestive heart failure, Abnormal renal tubular resorption, Dilated cardio... |
ORPHA:73224 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Delayed epiphyseal oss... |
OMIM:300009 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Diabetes mellitus, Telangiectasia of the skin, Abnormality ... |
ORPHA:542592 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... |
ORPHA:169090 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, I... |
OMIM:301000 |
49,Xxxyy Syndrome |
|
Mandibular prognathia, Abnormality of the testis size, Micrognathia, Increased circulating gonado... |
ORPHA:261534 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Pierre-Robin sequence, Cleft palate, Thick vermilion border, Everted lower lip vermil... |
OMIM:619980 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Dentinogene... |
OMIM:610968 |
Hypotonia-Cystinuria Syndrome |
|
Fatigue, Nephrolithiasis, Cystinuria, Failure to thrive, Polyphagia |
ORPHA:163690 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encep... |
ORPHA:1304 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Fatigue, Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased bo... |
OMIM:615954 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Abdominal pain, Microvesicular hepatic steatosis, Secretory diarrhea, Grade II vesic... |
OMIM:619377 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Fatigue, Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentratio... |
OMIM:274300 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Hypoplastic anterior limb... |
ORPHA:171680 |
Rat-Bite Fever |
|
Back pain, Lymphadenitis, Arthralgia, Vomiting, Morbilliform rash, Chills, Maculopapular exanthem... |
ORPHA:31205 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Abnormal ... |
ORPHA:90159 |
Androgen Insensitivity Syndrome |
|
Absent facial hair, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse ... |
OMIM:300068 |
Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... |
OMIM:615561 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Abnormal circulating enzyme concentration or activity, Hy... |
ORPHA:391428 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Raynaud phenomenon, Discoid lupus rash, Chronic ... |
ORPHA:90280 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Hypoalbuminemia, Hypocalcemia, Vomiting, Gastroesophageal reflux, Hepatic steatosi... |
OMIM:613658 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis... |
ORPHA:157 |
Congenital Analbuminemia |
|
Fatigue, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbumi... |
ORPHA:86816 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Nail dystrophy, Enamel hypoplasia, Anemia |
ORPHA:79411 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impa... |
OMIM:614074 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Dental crowding, Joint hypermobility, Joint stiffness, Pierre-Robin sequence, Cleft... |
OMIM:619184 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the... |
OMIM:208900 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
Prolactin Deficiency, Isolated |
|
Reduced circulating prolactin concentration |
OMIM:264110 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:617690 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Calvarial hyperostosis,... |
OMIM:612714 |
Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... |
ORPHA:249 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Yellow nails, Carious teeth, Conical incisor, Nail dystrophy, Onychomycosis, Enamel hyp... |
OMIM:614564 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Cer... |
OMIM:617729 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, ... |
ORPHA:369837 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Restlessness, Hepatomegaly, Dilation of Virchow-Robin spaces, Anhi... |
OMIM:615273 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Premature loss ... |
ORPHA:85188 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,... |
OMIM:610965 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Thin vermilion border, Hypogonadism, Sp... |
OMIM:300869 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... |
OMIM:145001 |
Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:618723 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Micrognathia, Generalized joint laxity, Increased circulating gon... |
ORPHA:99330 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Recurrent pharyngitis, Seizure, Myoclonus, Hypotension, Cough, In... |
ORPHA:99825 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypoglycemia, Sudden cardiac death, Renal t... |
ORPHA:156 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, Elevated circula... |
OMIM:619481 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... |
OMIM:619665 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Premature coronar... |
ORPHA:140905 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Anorexia, Abnormalit... |
ORPHA:330015 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism |
ORPHA:261229 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, M... |
OMIM:224300 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Dystonia, CNS foam cells, Bone-marrow foam cells, Low cholesterol esterification ra... |
OMIM:607625 |
Trisomy 18P |
|
Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Atrial septal defect, Vesicour... |
OMIM:118450 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Scarf Syndrome |
|
Craniosynostosis, Cryptorchidism, Low posterior hairline, Joint hyperflexibility, Hypoplastic nip... |
ORPHA:3134 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:616185 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:612885 |
Netherton Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent skin infections, All... |
OMIM:256500 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Mitral valve prolapse, Impaired ... |
OMIM:193400 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... |
OMIM:305400 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Anorexia, Myocarditis... |
ORPHA:3452 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... |
OMIM:619834 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Tremor,... |
OMIM:274150 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Fatigue, Abnormal circulating albumin concentration, ... |
ORPHA:86839 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas... |
ORPHA:398063 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Ob... |
OMIM:615981 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di... |
ORPHA:103910 |
Trisomy 20P |
|
Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Hernia, Macroorchidism, Um... |
ORPHA:261318 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... |
OMIM:620103 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase... |
OMIM:243800 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... |
OMIM:615723 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Portal ... |
OMIM:615688 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... |
OMIM:615508 |
Secondary Intestinal Lymphangiectasia |
|
Fatigue, Intestinal obstruction, Abdominal colic, Right ventricular failure, Reduced circulating ... |
ORPHA:90363 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Dystonia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypo... |
OMIM:616267 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation, Intestinal bleeding, Joint hemorrhage, Epistaxis |
OMIM:605735 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Pituitary adenoma, Hy... |
OMIM:300942 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Elevated circulating luteinizing hormone level, Sparse pubic hair, Hypopla... |
ORPHA:3044 |
Acute Interstitial Pneumonia |
|
Fatigue, Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated ci... |
ORPHA:79126 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Acne, Impaired glucose tolerance, Hyperinsulinemia, Incr... |
OMIM:615363 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... |
ORPHA:30391 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures, Micrognathia |
ORPHA:1486 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Obesity, Cerebral atrophy, Polyphagia, Self-mutilation |
OMIM:616521 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcephaly, Congestiv... |
ORPHA:90308 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Intr... |
OMIM:619055 |
Dent Disease |
|
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... |
ORPHA:1652 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Rhabdomyolysis, Neuromuscular dysphagia,... |
ORPHA:449285 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Irregular menstruation, Polycystic ovaries, Recurrent otitis media, Polyphagia |
OMIM:616831 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Corti... |
OMIM:131300 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Diarrhe... |
OMIM:619313 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... |
OMIM:619484 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial tortuosity, Arterial occlusion, Abnormal vascular morphol... |
ORPHA:289601 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... |
ORPHA:47 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Female hypogonadism, Decreased circulating parathyroid hormone leve... |
OMIM:240300 |
Subaortic Stenosis-Short Stature Syndrome |
|
Acne, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Type II diabete... |
ORPHA:3191 |
Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased ... |
ORPHA:74 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Abdominal pain, Jaundice, Incre... |
ORPHA:890 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Abdominal pain, Minimal change glomerulone... |
ORPHA:656 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i... |
OMIM:304790 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Cardiac arrest, Elevated circulating crea... |
OMIM:616878 |
Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation, Prolonged bleeding time, Ocular albinism, Epistaxis |
OMIM:614076 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... |
ORPHA:974 |
Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:72 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Coarse hair, Pa... |
OMIM:613573 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Diarrhea, Elevated circulating crea... |
OMIM:223900 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Gout, Renal cyst, Focal se... |
OMIM:617056 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Lact... |
OMIM:238600 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Stomatitis, Osteoporosis, Thyroiditis, Rickets, Iron deficiency anem... |
OMIM:212750 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Micrognathia, Generalized joint laxity, Recurrent pneumonia, Decreased ... |
OMIM:613848 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Se... |
ORPHA:3085 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Nephrocalcinosis, Elevated circulating alkaline phosphatase concentrat... |
OMIM:616833 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Pericardial lymphangiectasia, Mild postnatal growth retardation, Ventricular septa... |
OMIM:235510 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Recurrent respiratory infections, Abnormal dental enamel morphology, Patchy o... |
ORPHA:2323 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Portal hypertension, Abdominal pain, Splenome... |
ORPHA:1414 |
Spermatogenic Failure 75 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:619949 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Secretory diarrhea, El... |
OMIM:619573 |
Xq12-Q13.3 Duplication Syndrome |
|
Decreased serum insulin-like growth factor 1, Eczema, Elevated circulating creatine kinase concen... |
ORPHA:314389 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Glucose into... |
ORPHA:358 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Prolonged bleeding time, Hemolytic ane... |
ORPHA:809 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Conjugated hyper... |
OMIM:208500 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Multiple Myeloma |
|
Osteopenia, Tall stature, Increased circulating IgA level, Splenomegaly, Nephropathy, Weight loss... |
ORPHA:29073 |
Premature Ovarian Failure 7 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612964 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism,... |
OMIM:619471 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Anorexia... |
ORPHA:98850 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... |
OMIM:214500 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Disinhibition, Inappropriate laughter, Neuronal loss in central ne... |
OMIM:600274 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct... |
OMIM:620005 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Chronic ... |
OMIM:300554 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcif... |
OMIM:208060 |
Necrotizing Enterocolitis |
|
Shock, Apnea, Diarrhea, Peritonitis, Neutropenia, Leukocytosis, Bloody diarrhea, Abnormal heart m... |
ORPHA:391673 |
Premature Ovarian Failure 15 |
|
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... |
OMIM:618096 |
Alg9-Cdg |
|
Right ventricular dilatation, Vomiting, Gastroesophageal reflux, Abnormal left ventricular outflo... |
ORPHA:79328 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Aggressive behavior, Tremor, Decreased serum creatinine, Elevated circulating guanidinoacetic aci... |
OMIM:612736 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... |
ORPHA:33355 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Incre... |
OMIM:603553 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Hypospadias, Eczema, Cryptorchidism, Recurrent pneumonia, Recurrent otitis med... |
ORPHA:500159 |
Prolidase Deficiency |
|
Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Diffuse tela... |
OMIM:170100 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea... |
OMIM:618268 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... |
OMIM:166200 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leuko... |
OMIM:260920 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Limitation of joint mobili... |
ORPHA:69126 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Micrognathia, Abnormality of the dentition, ... |
OMIM:617952 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Delayed eruption of permanent teeth, Periodontitis, Type I diabet... |
OMIM:619269 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Splenomegaly, Recurrent infections, Hypohidrosis, Enamel hypoplasia, Retrognathia, ... |
OMIM:614576 |
Tempi Syndrome |
|
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG lev... |
ORPHA:284227 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Asthma, Decreased pla... |
ORPHA:274 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Enamel hypoplasia, Hypospadias |
OMIM:618874 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, High palate, H... |
OMIM:613823 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia |
ORPHA:638 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection... |
ORPHA:60033 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Recurrent skin infections, Decreased serum iron, Dilated cardiomyopathy, Dysph... |
ORPHA:89842 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Epistaxis, Ocular albinism, Reduced platelet dense granules, Impaired co... |
OMIM:619172 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Fatigue, Impulsivity, Cryptorchidism, Increased body weight, Hand tremor, Gastroesophageal reflux... |
ORPHA:589905 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Exercise intolerance, Impaired glucose toleran... |
OMIM:610131 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Resting tremor, Dyston... |
ORPHA:909 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontane... |
OMIM:610915 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Highly arched eyebrow, Microg... |
OMIM:259775 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, O... |
OMIM:207900 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... |
ORPHA:45452 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Optic neuropathy, Optic atrophy, Decreased circulating antibody level, Impair... |
OMIM:604928 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Hyperlipidemi... |
OMIM:248370 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Acne, Infertility, Oligomenorrhea |
OMIM:604931 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Impulsivity, Precocious pu... |
OMIM:619950 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated circulating C-... |
ORPHA:676 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circul... |
OMIM:602450 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Abnormal pulmonary valve... |
ORPHA:97287 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... |
OMIM:235400 |
7Q11.23 Microduplication Syndrome |
|
Atrial septal defect, Chronic otitis media, Abnormal repetitive mannerisms, Aplasia/hypoplasia of... |
ORPHA:96121 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... |
OMIM:605309 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Eczema, Postnatal growth retardation, Increased cir... |
OMIM:618985 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... |
OMIM:241600 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... |
OMIM:243910 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... |
OMIM:273250 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Fatigue, Intraalveolar phospholipid accumulation, Wei... |
ORPHA:747 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Osteomyelitis, Elevated circulating growth hormone concentration, Abnorma... |
ORPHA:2796 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Enamel hypoplasia, Nail dystrophy |
OMIM:226700 |
Proteus Syndrome |
|
Pulmonary embolism, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, Cap... |
ORPHA:744 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Short mandibular rami, ... |
OMIM:170390 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris |
OMIM:614025 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Restlessness, External genital hypoplasia, Aggressive behavior, Postna... |
ORPHA:251028 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Recurrent respiratory infections, Micrognat... |
ORPHA:2484 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Premature Ovarian Failure 9 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:615724 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Dia... |
ORPHA:71 |
C1Q Deficiency 2 |
|
Chilblains, Pneumocystis carinii pneumonia, Elevated circulating C-reactive protein concentration... |
OMIM:620321 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Absent nipple, Unilateral cleft palate, Highly arched eyebrow, Craniosynos... |
ORPHA:1299 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Nausea, Insulin-dependent but ketosis-resistant dia... |
ORPHA:103918 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... |
ORPHA:79644 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive protein concentr... |
OMIM:619381 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Partial atrioventric... |
OMIM:615996 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Premature Ovarian Failure 18 |
|
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... |
OMIM:619203 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Fulminant hepatitis, Leukopenia,... |
ORPHA:319213 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... |
OMIM:617478 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:614129 |
Bloom Syndrome |
|
Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased fertility in females, Postnat... |
OMIM:210900 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Dentinogenesis imp... |
OMIM:616507 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Radioulnar synostosis, Hypodontia, Metacarpal sy... |
OMIM:212780 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis, Abnormality of the urinary system |
OMIM:213010 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Acne, Adrenal hyperplasia, Increased body weight, Hypertension, Increased circ... |
OMIM:615830 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypoglycemia, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... |
OMIM:212138 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Abnormality of the liver, Compulsive behaviors, Limb dystonia, As... |
ORPHA:646 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Chronic ... |
OMIM:619179 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Hypoglycemia, Precocious puberty, In... |
ORPHA:786 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypercalc... |
OMIM:241530 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Chest pain, P... |
ORPHA:90060 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abdominal pain, Pericardial effusion, Chronic diarrhea, Weight loss, Abnorma... |
ORPHA:90362 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Fatigue, Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular cal... |
OMIM:600740 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... |
OMIM:307030 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Nephrol... |
OMIM:219090 |
Heimler Syndrome 1 |
|
Beau's lines, Enamel hypoplasia, Leukonychia, Amelogenesis imperfecta |
OMIM:234580 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Trichothiodystrophy |
|
Osteopenia, Sparse scalp hair, Increased bone mineral density, Multiple joint contractures, Britt... |
ORPHA:33364 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Cryptorchidism, Hypoplasia of the prima... |
ORPHA:90322 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... |
OMIM:259730 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Recurrent v... |
OMIM:615577 |
Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Abnormality of the frontal hairline, Oligodontia, Microdontia, Enam... |
ORPHA:557003 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... |
ORPHA:77297 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Recurrent upper respiratory tra... |
OMIM:615952 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Respiratory failure, Intersti... |
ORPHA:330021 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Polycythemia, Abnormality of t... |
ORPHA:2905 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Arthralgia, N... |
ORPHA:324 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephalit... |
ORPHA:391487 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormo... |
ORPHA:90796 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... |
ORPHA:91347 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Recurrent ear infections, Aggressive behavior, Postnatal growth retardation, Self-injurious behav... |
OMIM:156200 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Respiratory insufficiency, Macroglossia, Seizure, H... |
OMIM:616900 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Cutaneous T-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Lymphadenopathy, ... |
ORPHA:2584 |
Immunodeficiency 10 |
|
Kaposi's sarcoma, Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent b... |
OMIM:612783 |
Pmm2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Intracranial hemorrhage, Hyperpla... |
ORPHA:79318 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
Slc35A1-Cdg |
|
Respiratory distress, Prolonged bleeding time, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... |
ORPHA:238459 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Simplified gyral pattern, Seizure,... |
OMIM:620001 |
Cystinosis |
|
Portal hypertension, Rickets, Myopathy, Vomiting, Type I diabetes mellitus, Polydipsia, Abnormal ... |
ORPHA:213 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Axonal degeneration, Hand tremor, Degeneration of anterior horn cells, Hyperglyce... |
OMIM:604484 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:612310 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Severe i... |
ORPHA:2686 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Bloody diarrhea, T... |
ORPHA:90068 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Diabetes mellitus, Hypertriglyceridemia, Carotid artery stenosis, Pericardial effusion, Cryptorch... |
ORPHA:536532 |
Pituitary Gigantism |
|
Mandibular prognathia, Elevated circulating growth hormone concentration, Hyperhidrosis, Increase... |
ORPHA:99725 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Abnormal... |
ORPHA:3206 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Overweight, ... |
OMIM:617406 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... |
ORPHA:534 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex |
ORPHA:75508 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Aggressive behavio... |
ORPHA:905 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Decreased serum insu... |
ORPHA:77293 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hepatic cysts, Pancreatic cysts, Cerebral atrophy, Abnormal heart morphology, Hypert... |
OMIM:311200 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Recurrent respiratory infections, Joint stiffness, Decreased... |
ORPHA:1493 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Carious teeth, Osteoporosis, Recurrent fractures |
OMIM:126550 |
Seckel Syndrome 1 |
|
Pancytopenia, Dental crowding, Selective tooth agenesis, Micrognathia, Cryptorchidism, Elbow flex... |
OMIM:210600 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo... |
OMIM:259720 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture,... |
OMIM:617591 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hepatic steatosis, Hyperactivity, Hypospadias, Ventricular septal defect, P... |
ORPHA:254346 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... |
OMIM:604416 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... |
ORPHA:90321 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Mitral regurgitation, Hepatic fibrosis, Aplasia of the uterus, Polycysti... |
OMIM:619879 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Atopic dermatitis, Agenesis of corpus callosum, Atrial septal defect,... |
OMIM:616854 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital he... |
OMIM:266920 |
Noonan Syndrome |
|
Abnormal pulmonary valve morphology, Abnormality of the spleen, Pulmonary artery stenosis, Aplasi... |
ORPHA:648 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Synophrys, Downturne... |
ORPHA:94063 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... |
ORPHA:90160 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partia... |
OMIM:619103 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Exercise intolerance, Elevated circulating creatine kinase concent... |
OMIM:620138 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Enamel hyp... |
OMIM:164200 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Eczema, Hepatic failure |
OMIM:177000 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Anorexia, Pancreatoblastoma, Pituitary corticotropic ... |
ORPHA:99889 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Ren... |
OMIM:614376 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Wide anterior fontanel, Sepsis, Cholelithiasis, Abnormal cortical b... |
OMIM:614886 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Scarf Syndrome |
|
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Lambdoidal cr... |
OMIM:312830 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, BCGosis, Increased circulating ferritin conc... |
OMIM:618963 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Ocular albinism, Impaired platelet aggrega... |
OMIM:614077 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Microcephaly, Dysplastic corpus callosum, Abnormal heart morphology, Self-injurious b... |
ORPHA:314679 |
48,Xxxy Syndrome |
|
Renal dysplasia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Tremor, Cryptorchidism, ... |
ORPHA:96263 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev... |
OMIM:300539 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... |
OMIM:620311 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c... |
OMIM:250790 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... |
OMIM:619127 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Du... |
ORPHA:39812 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Chronic diarrhea, Dilated cardiomyopathy, Hepatic fibrosis, Failure to thrive |
OMIM:613989 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia |
OMIM:618205 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia, Resting tremor |
ORPHA:397941 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Genital ulcers, Colitis, Lymphopenia, Thrombocytop... |
OMIM:616744 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... |
OMIM:119600 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dystonia, Dysuria, Elevated circulating creatinine concentration, Gout, Hype... |
ORPHA:79233 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Hematological neoplasm, Pruritus, Splenomegaly, Lymphadenopat... |
ORPHA:98848 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399808 |
Prolactinoma |
|
Osteopenia, Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated ... |
ORPHA:2965 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tre... |
OMIM:254900 |
Sotos Syndrome |
|
Tall stature, Ventricular septal defect, Abnormality of the kidney, Aggressive behavior, Cryptorc... |
OMIM:117550 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Polyphagia, Pineal cyst, Enuresis nocturna... |
OMIM:615873 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Lymphopenia... |
OMIM:614162 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... |
OMIM:618935 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, Cryptor... |
ORPHA:2658 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time, Facial palsy, Abnormality of bone mineral density |
ORPHA:1114 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto... |
OMIM:617099 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, Recu... |
ORPHA:171876 |
Igg4-Related Pachymeningitis |
|
Low back pain, Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, N... |
ORPHA:449427 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Mandibular prognathia, Anterior pituitary ... |
OMIM:151050 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Skin rash, Telangiectasia of the skin, Small for... |
ORPHA:2909 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Prolonged bleeding time, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint ... |
ORPHA:1901 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, ... |
OMIM:167800 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Prematu... |
OMIM:239000 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, Patent ductus arteriosus, Diarrhea, Abnorm... |
ORPHA:79076 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pul... |
OMIM:612387 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Elevated circulating crea... |
OMIM:614723 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Nail dystr... |
OMIM:612843 |
Lathosterolosis |
|
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I... |
OMIM:607330 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Cachexia, Abnormality of the spleen... |
ORPHA:2072 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Anorexia, Diarrhea, Tachypnea, Leukocytosis, Hypertension, Seizure, Vomiting, Agita... |
ORPHA:134 |
Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... |
ORPHA:96253 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Biliary cir... |
OMIM:219700 |
Tangier Disease |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Abdominal pain, Hepat... |
ORPHA:31150 |
Orthostatic Hypotension 1 |
|
High palate, Joint hypermobility, Reduced circulating prolactin concentration |
OMIM:223360 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Osteoporosis, Rickets, Vomiting, Myoclonus, Type I diabetes mellitus |
OMIM:560000 |
Panbronchiolitis, Diffuse |
|
Foam cells, Bronchiectasis |
OMIM:604809 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Nail dystrophy, Enamel hypoplasia, Anemia |
ORPHA:79409 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Q Fever |
|
Abnormal left ventricular function, Cholecystitis, Meningitis, Infectious encephalitis, Maculopap... |
ORPHA:781 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... |
ORPHA:100080 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Aspartylglucosaminuria, Acne, Vacuolated lymphocytes, Mitral re... |
OMIM:208400 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Streak ovary, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, P... |
OMIM:241080 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... |
OMIM:616501 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegal... |
ORPHA:3226 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure with fo... |
ORPHA:488627 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Splenomegaly, Wheezing, Diarrhea, Rickets |
OMIM:211600 |
Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Limitation of joint mobility, F... |
ORPHA:171719 |
Complement Component 5 Deficiency |
|
Reduced hemolytic complement activity, Recurrent Neisserial infections, Generalized seborrheic de... |
OMIM:609536 |
Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Recurrent urinary tract infections, Joint hypermobili... |
OMIM:619229 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Oral mucosal blisters, Flexion contracture, Nail dystrophy, Narrow mouth, Enamel hypopl... |
OMIM:226600 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth... |
ORPHA:2769 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Dyspnea, Myocarditis, Splenomegaly, Restrictive ventilatory defect, ... |
ORPHA:83317 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Pachygyria, Dysplastic corpus callosum, Patent ductus arteriosus, Tetr... |
ORPHA:2328 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Increased circulating ... |
ORPHA:449432 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Seizure, Hypotension, Atrial s... |
OMIM:615668 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Hematuria,... |
OMIM:603903 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Nail dystrophy, Hypodontia |
OMIM:616029 |
Isolated Splenogonadal Fusion |
|
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... |
ORPHA:457083 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal repetitive mannerisms, Patent ductus arteriosus, Attention de... |
ORPHA:435638 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... |
ORPHA:100082 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Gastroesophageal reflux, Chronic otitis m... |
ORPHA:261494 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Delayed eruption of teeth, Interphalangeal joint contracture of fing... |
OMIM:259600 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Seizure, Lissencephaly, Polymicrog... |
OMIM:614833 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Cerebral cortical atrophy, Primary hypothyroidism, Dysphagia |
OMIM:249310 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Recurrent herpes, Hypospadias, Eczema, Recurrent bronchitis, Inguinal hernia, Crypt... |
OMIM:620331 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Hypospadias, Eczema, Decreased response to growth hormone stimulation test, Bilateral cryptorchid... |
OMIM:618336 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Dysplastic corpus callosum, Patent ductus arteriosus, Muscular ventricular s... |
ORPHA:363444 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Elevated circulating C-reactive protein c... |
ORPHA:3243 |
Desmosterolosis |
|
Increased bone mineral density, Micrognathia, Splenomegaly, Submucous cleft hard palate, Cleft pa... |
ORPHA:35107 |
Classic Hodgkin Lymphoma |
|
Skin rash, Anorexia, Pruritus, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hyp... |
ORPHA:391 |
Erythema Elevatum Diutinum |
|
Skin rash, Vasculitis in the skin, Increased circulating antibody level |
ORPHA:90000 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Nail dystrophy, Enamel hypoplasia, Anemia |
ORPHA:79410 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Elevated circulating C-reacti... |
ORPHA:829 |
Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Female infertility, Asplenia, Recurrent myc... |
ORPHA:244 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Inguinal hernia, Eczema, Hydrocele testis, Increased serum testosterone lev... |
ORPHA:96181 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... |
ORPHA:755 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
46,Xy Sex Reversal 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612965 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Micrognathia, Hypopla... |
ORPHA:90652 |
Essential Thrombocythemia |
|
Myelofibrosis, Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, M... |
ORPHA:3318 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Acute infectious pneumo... |
ORPHA:723 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Gastroesophageal reflux, Intention tremor, Hepatomegaly, Renal... |
ORPHA:90324 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:614091 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Osteomalacia, Recurrent fractures, Camptodactyly of finge... |
ORPHA:2176 |
Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Epistaxis, Insulin resistance, Fetal pyelectasis, Obesity, Hematoche... |
ORPHA:96168 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Dysplastic corpus callosum, Hypochromic microcytic anemia, Arthritis, Seizure, Sec... |
OMIM:619423 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Abnormality of hair texture, Micrognathia, Synophrys, Hypoplastic sweat... |
ORPHA:73223 |
Alexander Disease |
|
Osteopenia, Cerebral calcification, Diabetes mellitus, Facial palsy, Sudden cardiac death, Bowel ... |
ORPHA:58 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Post... |
ORPHA:813 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Red hair, Dentinogenesis imperfecta |
OMIM:229200 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Decreased DLCO, Pulmonary fibrosis, Glycosuria, Hypophosphatemic rickets, Emphysema... |
OMIM:618913 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphag... |
ORPHA:404448 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Abno... |
OMIM:610688 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... |
OMIM:616026 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hypopigmentation of hair, Osteopetrosis |
OMIM:618541 |
Nephronophthisis-Like Nephropathy 1 |
|
Kinetic tremor, Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts,... |
OMIM:613159 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse e... |
OMIM:618419 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Congenital malformation of the lef... |
ORPHA:3455 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Increased circulating IgE leve... |
ORPHA:3409 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Increased mean platelet volume, Myocar... |
ORPHA:182050 |
Ovarian Dysgenesis 3 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:614324 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... |
OMIM:613736 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Weismann-Netter Syndrome |
|
Abnormality of the thyroid gland, Abnormal cortical bone morphology, Anemia |
ORPHA:3344 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... |
OMIM:600955 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticuloc... |
OMIM:275350 |
Infant Botulism |
|
Cardiac arrest, Bowel incontinence, Anorexia, Respiratory insufficiency due to muscle weakness, D... |
ORPHA:178478 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Atrial septa... |
ORPHA:95430 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Microcephaly, Rhabdomyolysis, Ventricular tachycardia, Respiratory insuffi... |
ORPHA:159 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Stiff neck, Lower li... |
ORPHA:2912 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Hyperactivity, First degree atrioventricular block, Abdominal pain, Patent d... |
ORPHA:589821 |
Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, ... |
OMIM:251300 |
Alport Syndrome |
|
Mesangial hypercellularity, Vomiting, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depos... |
ORPHA:63 |
Weaver Syndrome |
|
Inguinal hernia, Cryptorchidism, Hydrocele testis, Camptodactyly, Umbilical hernia, Joint contrac... |
OMIM:277590 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent eyelashes, Carious teeth, Xerostomia, Widely spaced teeth, Enamel hypoplasia |
OMIM:620193 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Seizure, Mitral regurgitation, Secondary microce... |
OMIM:619167 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Abnormality of the kidney, Obesity, Macular degeneration... |
OMIM:613464 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Curly hair, Brittle hair, Slow-growing hair, Camptodactyly of finger, Abno... |
ORPHA:2710 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Protruding tongue, Splenomegaly, Gingival overgrowth, Sea-blue histiocytosis, Na... |
OMIM:230600 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Increased bone mineral density, Thickened cortex of long bones, Anemia |
OMIM:127000 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Diabetes mellitus, Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropat... |
OMIM:209010 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Large for gestational age, Cardiome... |
ORPHA:363705 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Back pain, Fatigue, Shoulder pain, Proteinuria, Cerebral hemorrhag... |
ORPHA:244242 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurrent bacterial i... |
OMIM:248500 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Craniosynostosis, Oral mucosal blisters, Sepsis, Recurrent infections, Smooth tongue, N... |
ORPHA:79396 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Micrognathia, Car... |
ORPHA:536467 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop... |
OMIM:614520 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Low anterior hairline, High palate, Wrist flexion contracture, Generalized hirsutis... |
ORPHA:800 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... |
OMIM:611590 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Renal magnesium wa... |
OMIM:218330 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Increased circulating lactate dehydrogenase concentration, Hyperphosphaturia... |
OMIM:309000 |
Tick-Borne Encephalitis |
|
Stiff neck, Meningitis, Leukocytosis, Unusual CNS infection, Leukopenia, Increased circulating Ig... |
ORPHA:297 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Generalized-onset seizure, Dysplastic corpus callosum, Increased susceptib... |
ORPHA:357058 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... |
OMIM:609628 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto... |
OMIM:616871 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Seizure, Interstitial pneumonitis... |
ORPHA:454831 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... |
OMIM:261900 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Exercise intolerance, Elevated circulating creatine kinase concentration, Obesity, Heart... |
OMIM:615418 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Hypoglycemia, Bilateral tonic-clonic seizure, Cerebral hemorrhage, Dilat... |
OMIM:620300 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, He... |
OMIM:263520 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... |
OMIM:607115 |
Joubert Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Renal cyst, Hepatic fibrosis, Nephropathy, Self-mutilation |
OMIM:213300 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Cereb... |
ORPHA:2671 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... |
OMIM:600081 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... |
ORPHA:1772 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Inguinal hernia, Aspartylglucosaminuria, Splenomegaly, Arthriti... |
ORPHA:93 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Optic atrophy, Obesity, Mitral regurgitation, Pulmonary arteria... |
OMIM:614651 |
Chromomycosis |
|
Keratitis, Pruritus, Squamous cell carcinoma, Atypical scarring of skin, Recurrent bacterial infe... |
ORPHA:182 |
Meningococcal Meningitis |
|
Shock, Neonatal respiratory distress, Projectile vomiting, Skin rash, Stiff neck, Anorexia, Seizu... |
ORPHA:33475 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Hypoalbuminemia, Knee pain |
OMIM:614441 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Hyper... |
ORPHA:666 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Maculopapular exanthema, Dyspnea, Diarrhea, Vomiting, Hypotension, Na... |
ORPHA:79455 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... |
ORPHA:2234 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Tremor, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired ... |
ORPHA:79102 |
46,Xy Sex Reversal 1 |
|
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... |
OMIM:400044 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Diabetes melli... |
ORPHA:2237 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... |
ORPHA:2089 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal... |
OMIM:618476 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivi... |
OMIM:300967 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... |
ORPHA:100075 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Diarrhea, Tachypnea, Rhabdomyolysis, Hypertension, Seizure, Agitation,... |
ORPHA:43116 |
Cystic Echinococcosis |
|
Invasive parasitic infection, Abscess, Eosinophilia, Unusual infection, Bone cyst, Renal cyst, We... |
ORPHA:400 |
46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Visceral Myopathy 1 |
|
Gastroparesis, Abdominal pain, Diarrhea, Megacystis, Hydronephrosis, Vomiting, Constipation, Urin... |
OMIM:155310 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Anemia, Pulmonary fibrosis, Type I diabetes mellitus, Emphysema,... |
OMIM:620365 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Anhidrosis, Dry hair, Delayed eruption of primary teeth, ... |
OMIM:216400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Smooth philtrum, Dental crowding,... |
OMIM:309583 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Cystic liver disea... |
OMIM:612284 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar hyperhidr... |
OMIM:610644 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Dysplastic corpus callosum, Asthma, Periventricular cysts, Thick corpus call... |
ORPHA:544488 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... |
OMIM:610628 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Increased bone mineral density, Pancytopenia, Splenomegaly, Ost... |
ORPHA:77261 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... |
ORPHA:90158 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Anorexia, Nonproductive cough, Lymphadenitis, Conjunctivitis... |
ORPHA:31204 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Constipation, Decreas... |
OMIM:618885 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Abnormal testis morphology, Crypt... |
ORPHA:96147 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Abnormal repetitive mannerisms, Hypothyroidism |
ORPHA:2479 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Myoc... |
ORPHA:206569 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Nausea, ... |
ORPHA:31826 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Micrognathia, Persistence of primary teeth, Thrombocytopenia, ... |
ORPHA:2785 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Hyperhi... |
ORPHA:35687 |
Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis, Type II diabetes mellitus |
ORPHA:2069 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Obesity, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... |
ORPHA:87503 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating... |
ORPHA:81 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypoglycemia, Eosinophilia, Anorex... |
ORPHA:199299 |
Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Abnor... |
ORPHA:778 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
OMIM:226730 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Tarsal synostosis, Elevated circulating luteinizing hormone level... |
OMIM:609441 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bifid scrotum, Bicuspid aortic valve, Tics, Vomiting, Compulsive behaviors, Otitis med... |
OMIM:619475 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Decreased skull ossification, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Gastroesophageal reflux, Atrial septal defect, Hypothyroid... |
OMIM:607872 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Abnormality of the... |
ORPHA:449563 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Tachypnea, Apnea |
OMIM:616490 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Recurrent viral infections, Intraventricular hemorrhage, ... |
ORPHA:420741 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Hypertrophic cardiomyopathy, Seizure |
OMIM:618810 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Cervical lymphadeno... |
OMIM:617718 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inve... |
OMIM:208530 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Camptodactyly |
OMIM:604273 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Fing... |
ORPHA:221008 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Ocular albinism, Hematochezia, Cardiomyopathy, Restrictive ve... |
OMIM:203300 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Pericardial effusion, B... |
OMIM:181000 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Long philtrum, Mala... |
ORPHA:50945 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hematuria, Menor... |
ORPHA:35909 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Recurrent urinary tract infections, Recurrent respiratory infections, Skin rash, Abn... |
ORPHA:1334 |
Familial Hypocalciuric Hypercalcemia |
|
Fatigue, Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increas... |
ORPHA:405 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemi... |
OMIM:608612 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, D... |
OMIM:277460 |
Müllerian Aplasia And Hyperandrogenism |
|
Acne, Renal agenesis, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum test... |
ORPHA:247768 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadeno... |
ORPHA:139402 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Short eyelashes, Long philtrum, Thin b... |
OMIM:612731 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytop... |
ORPHA:100026 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular ... |
ORPHA:398124 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Stomatitis, Elevated circulating growth hormone conc... |
ORPHA:97280 |
Mullerian Aplasia And Hyperandrogenism |
|
Acne, Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentra... |
OMIM:158330 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... |
OMIM:610377 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Diarrhea, Cardiorespirato... |
ORPHA:99828 |
Milroy Disease |
|
Hydrocele testis, Angiosarcoma, Neoplasm of the skin, Cellulitis, Erysipelas |
ORPHA:79452 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Generalized-onset seizure, Simplified gyral pattern, Gastroesophageal r... |
ORPHA:500150 |
Bullous Pemphigoid |
|
Diabetes mellitus, Eczema, Psoriasiform dermatitis, Recurrent infections |
ORPHA:703 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Accessory oral frenu... |
ORPHA:672 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Single ventricle, Cryptorchidism, ... |
OMIM:601186 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Microcephaly, Dysplastic corpus callosum, Muscular ventricular septal defect, Head-banging, Intri... |
OMIM:618569 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Sudden death, Nephrocalcinosis, Glucose intolerance, Early onset of sexual... |
OMIM:194050 |
Dubowitz Syndrome |
|
Hyperactivity, Inguinal hernia, Aplastic anemia, Eczema, Hypospadias, Postnatal growth retardatio... |
OMIM:223370 |
Mednik Syndrome |
|
Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fatty a... |
OMIM:609313 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria |
OMIM:613388 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Rickets, Prolonged prothrombin time, Steatorrhea |
ORPHA:79303 |
Sepsis In Premature Infants |
|
Tachycardia, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Diarrhea, Leukocytosis, Abno... |
ORPHA:90051 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebral calcification, Bilateral tonic-clonic seizure, Microcephaly, Tonic seizur... |
OMIM:617281 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Weight ... |
ORPHA:79078 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Seizure, Emphysema, Nonarteriosclerotic cerebral calcification, Portal hypertension |
OMIM:210050 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... |
OMIM:614841 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Abnormality of the dentition, Low anterior hairline, Low posterior hairlin... |
OMIM:615802 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Lymphadenopathy, Neoplasm of the skin |
OMIM:254400 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Recurrent skin infections, Superficial dermal perivascular infla... |
ORPHA:542643 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Splenom... |
ORPHA:79332 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Incre... |
ORPHA:2314 |
Juvenile Polyposis Syndrome |
|
Abdominal pain, Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive |
OMIM:174900 |
Hypercholanemia, Familial 1 |
|
Rickets, Steatorrhea |
OMIM:607748 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Joint laxity, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal ... |
ORPHA:466791 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... |
OMIM:144010 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Vomiting |
OMIM:602722 |
Desmosterolosis |
|
Micrognathia, Generalized osteosclerosis, Alveolar ridge overgrowth, Cleft palate, Gingival fibro... |
OMIM:602398 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Atrioventricula... |
ORPHA:251071 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Bone cyst, Renal cyst, Weight loss... |
ORPHA:284 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Aa Amyloidosis |
|
Chronic diarrhea, Abnormal heart morphology, Vomiting, Hypotension, Nausea |
ORPHA:85445 |
Zttk Syndrome |
|
Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Craniosynostosis, Dysp... |
OMIM:617140 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Small scrotum, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyp... |
OMIM:620330 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529799 |
Septo-Optic Dysplasia Spectrum |
|
Fatigue, Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, O... |
ORPHA:3157 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Renal hypoplasia... |
OMIM:269860 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Orchitis, Pr... |
ORPHA:556 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Microcephaly, Respiratory insuffi... |
ORPHA:2135 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic anemia, Fing... |
ORPHA:221016 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... |
OMIM:146255 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hemolytic anemia, Chilblains, Vasculitis, Hepatitis, Hematochezia, Nephrotic ... |
OMIM:615846 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... |
OMIM:180849 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Cerebral calcification, Ventricular septal defec... |
OMIM:245150 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontanel, Decreased c... |
OMIM:610682 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Gastroesophageal reflux, Hypocalcemia, Hypoplasia of the thymus,... |
ORPHA:567 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,... |
ORPHA:79408 |
Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Elbow flexi... |
ORPHA:3132 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Frasier Syndrome |
|
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... |
ORPHA:347 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Wheezing, Diarrhea, Vomiting, Lymphocytos... |
ORPHA:79456 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Sepsis, Recurrent cutaneous... |
ORPHA:477 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Sparse scalp hair, Distal symphalangism, Precocious puberty, Type II diabetes mellitus, Microdont... |
OMIM:210720 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi... |
ORPHA:355 |
Codas Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Generalized joint laxity, Delayed ossification of carp... |
OMIM:600373 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Tented upper lip vermilion, Micrognathia, Protruding tongue, Bi... |
OMIM:619777 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... |
ORPHA:158048 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Satoyoshi Syndrome |
|
Fatigue, Diarrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea |
OMIM:600705 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Fatigue, Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Rig... |
ORPHA:70591 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Skin rash, Cachexia |
ORPHA:220295 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia |
ORPHA:89937 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal fistula, Recurrent bronch... |
OMIM:612567 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive protein concentration, Leu... |
ORPHA:50918 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Carcinoid tumor, Pancreat... |
OMIM:610755 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Familial Glucocorticoid Deficiency |
|
Ketotic hypoglycemia, Anorexia, Diarrhea, Hypoglycemic seizures, Vomiting, Constipation, Hypotens... |
ORPHA:361 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Myelodysplasia, Thrombocytopenia, ... |
ORPHA:508542 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pharyng... |
ORPHA:293978 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Recurrent fractures, Craniosynostosi... |
ORPHA:667 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f... |
ORPHA:90156 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Large for gestational age, Cardiomegaly, Vesicoureteral reflux, Hepatoblast... |
ORPHA:116 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Cystic Fibrosis |
|
Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurr... |
ORPHA:586 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Hypertriglyceridemia, Small for gestational age, Pneumonia, Hypospadias, S... |
OMIM:264090 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Hydroxykynureninuria |
|
Tachycardia, Breathing dysregulation, Hypotension, Stomatitis, Abnormal repetitive mannerisms |
ORPHA:79155 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent urinary tract infections, Erosion of oral mucosa, Abnormal oral mucosa morpho... |
ORPHA:79404 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Postnatal growth ... |
OMIM:617827 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra... |
OMIM:607485 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia, Glycosuria |
OMIM:134600 |
Ring Chromosome 12 Syndrome |
|
Acne, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Hypothyroidism, Breas... |
ORPHA:1439 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia |
OMIM:307800 |
Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Splenomegaly, Diarrhea, Rickets, Steatorrhea |
OMIM:607765 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Apnea, Diarrhea, Tongue thrusting, Cardiorespiratory arrest, Gastroesophageal reflux... |
OMIM:608643 |
Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Congestive heart failure, Diarrhea, Hypovolemia, Leukocytosis,... |
ORPHA:31824 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Myocardial infarction, An... |
ORPHA:95409 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... |
OMIM:619503 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Pheochromo... |
OMIM:160980 |
Cholera |
|
Tachycardia, Hypoglycemia, Diarrhea, Tachypnea, Seizure, Hypovolemic shock, Vomiting, Hypotension... |
ORPHA:173 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Elevated circulating C-reactive p... |
OMIM:301074 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Rhabdomyolysis, Dysphagia, Hyper... |
ORPHA:94093 |
Primary Hyperoxaluria |
|
Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Rootless teeth, Ab... |
ORPHA:416 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Skin rash, Hypoglycemia, Nausea, Diarrhea, Abnormal respirato... |
ORPHA:90062 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Goiter, Pituitar... |
ORPHA:733 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia |
OMIM:605231 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Sepsis, Abnormal left ventricular function, Leukopenia, A... |
OMIM:619991 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Ragged-red muscle fibers, Leukoencephalopathy, Seizure, Hypoplasia of... |
OMIM:614924 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Gastroesophageal reflux, Compulsive behaviors, Otitis media, Atrial septal... |
ORPHA:353281 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe... |
ORPHA:678 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Focal autonomic seizure with epigastric sensation/nausea/vomiting/... |
ORPHA:247257 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Abdominal pain, Chronic pancreatitis, Insulin-dependent but ketosis-res... |
OMIM:608189 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Recurrent respiratory infections, Diarrhea, Vomiting, Hypotension |
OMIM:264350 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Increased body weight, Horseshoe kidney, Self-injurious behavior, Micropenis |
OMIM:300860 |
Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Ventricular hypertrophy, Cerebral calcification, Transient ischemic attack,... |
ORPHA:51608 |
Addison Disease |
|
Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Anorexia, Thiamine-respon... |
ORPHA:85138 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Distal Deletion 12Q |
|
Ectopic kidney, Biliary atresia, Proportionate tall stature, Vesicoureteral reflux, Micropenis, P... |
ORPHA:96149 |
Plague |
|
Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pne... |
ORPHA:707 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Join... |
OMIM:613679 |
46,Xx Sex Reversal 1 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:400045 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Respiratory insufficiency due to muscle weakness, Diarrhea, Ricke... |
ORPHA:18 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circ... |
ORPHA:314769 |
Leptospirosis |
|
Respiratory distress, Pericarditis, Skin rash, First degree atrioventricular block, Anorexia, Dia... |
ORPHA:509 |
Perry Syndrome |
|
Central hypoventilation, Hypotension |
ORPHA:178509 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Seizure, Hypotension |
ORPHA:91354 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, Osteoporosis, Gingiva... |
OMIM:249420 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Inguinal hernia, Omphalocele, Eczema, Abnormal de... |
ORPHA:2273 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Recurrent skin infections, Tubulointerstit... |
ORPHA:33001 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures, Glycosuria |
OMIM:268315 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal cerebral white matter morphology, Constipation, Vomiting, Glycosuria, Polydipsia |
ORPHA:411629 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Rhabdomyolysis, Ventricular tachycardia, Seizure, Vomiting, ... |
OMIM:263800 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Sparse pubic hair, Increased circulating gonadotropin level, High palate, Highly arched eyebrow |
OMIM:110100 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Diarrhea, Osteoporosis, Rickets, Iron deficiency anemia, Keratoconjunctivitis sicca... |
ORPHA:309031 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Hepatitis, Hypotension |
ORPHA:199296 |
African Trypanosomiasis |
|
Vomiting, Conjunctivitis, Iritis, Nausea, Abnormal EKG, Narcolepsy, Hepatosplenomegaly, Abnormal ... |
ORPHA:3385 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, S... |
ORPHA:379 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Myositis, Pericarditis, Skin rash, Elevated circulating creatine... |
ORPHA:93672 |
Occipital Horn Syndrome |
|
Osteopenia, Cerebral calcification, Gastroparesis, Osteomalacia, Osteoporosis, Osteolysis, Ricket... |
ORPHA:198 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Cryptorchidism, En... |
ORPHA:2363 |
Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis |
OMIM:143890 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Congestive heart failure, Reduced bone mineral density, Hypotension, Arrhythmia, Abnormal... |
ORPHA:428 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Fanconi-Bickel Syndrome |
|
Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia |
OMIM:227810 |
Aicardi-Goutières Syndrome |
|
Enchondroma, Myositis, Diabetes mellitus, Multiple joint contractures, Chilblains, Lipoatrophy, N... |
ORPHA:51 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Cerebral calcification, Diabetes mellitus, Oral-pharyngeal dysphagia, Sp... |
OMIM:219800 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... |
ORPHA:533 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Cleft palate, Carpa... |
OMIM:272460 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Pulmonary hypoplasia, Hypotension, Microcephaly |
OMIM:267430 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphra... |
OMIM:613177 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Nail dystrophy, Amelogenesis imperfecta |
OMIM:245660 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy... |
OMIM:609049 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Anorexia, Orchitis, Pustule, Vasculitis, Ar... |
ORPHA:761 |
Igg4-Related Thyroid Disease |
|
Sclerosing cholangitis, Increased circulating IgG4 level, Hashimoto thyroiditis, Thyroiditis |
ORPHA:64744 |
Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Hypoplasia of the maxilla, Narrow palate, Tooth malposition, Thin bony cortex |
OMIM:277600 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Intermittent diarrhea, Iron de... |
ORPHA:100078 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pruritus, Pustule, Leuk... |
ORPHA:293173 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Gastroesophageal reflux, Compulsive behaviors, Otitis media, Atrial septal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Gastroesophageal reflux, Compulsive behaviors, Otitis media, Atrial septal... |
ORPHA:353277 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Co... |
ORPHA:444077 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia o... |
OMIM:618078 |
Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Failure t... |
OMIM:619151 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Tubulointerstitial nephrit... |
ORPHA:797 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Overgrowth, Abnormal tricuspid valve morphology |
ORPHA:199276 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Open mouth, Recurrent infections, Fused teeth, Hi... |
OMIM:300896 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Highly arched eyebrow, Elevated circulating luteini... |
ORPHA:572333 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Seizure, Hypotension |
ORPHA:439822 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopeni... |
ORPHA:83617 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
Vascular Ehlers-Danlos Syndrome |
|
Osteoarthritis, Periodontitis, Uterine rupture, Internal hemorrhage, Peripheral arteriovenous fis... |
ORPHA:286 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Vitreo... |
OMIM:620185 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Ventricular septal defect, Seborrheic dermatitis, Pancre... |
OMIM:274000 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Abnormal cardiac ventricular function, Microcephaly, Congestive heart failure, Dila... |
ORPHA:90349 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Severe postnatal growth retardation, Anteri... |
OMIM:266810 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Recurrent p... |
OMIM:614098 |
Behcet Syndrome |
|
Genital ulcers, Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:231736 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Focal Dermal Hypoplasia |
|
Joint laxity, Delayed eruption of teeth, Brittle hair, Supernumerary nipple, Cleft upper lip, Cry... |
OMIM:305600 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Neop... |
ORPHA:793 |
Spondyloocular Syndrome |
|
Osteopenia, Unilateral cryptorchidism, Abnormality of the dentition, Low posterior hairline, Thin... |
OMIM:605822 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Diarrhea, Vomiting, Hypotension, Dysphagia, Nausea, Inspiratory st... |
ORPHA:100050 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... |
OMIM:601076 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle ... |
ORPHA:284979 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Descending aort... |
OMIM:130050 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Vomiting, Hypotension |
ORPHA:556037 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Dilated cardio... |
OMIM:610768 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax... |
ORPHA:538 |
Viss Syndrome |
|
Joint laxity, Chronic gastritis, Epidural hemorrhage, Retinal detachment, Eczema, Generalized joi... |
OMIM:619472 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Juncti... |
OMIM:309801 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Vomiting, Hypotension |
ORPHA:556030 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Epileptic spasm, Osteomalacia, Microcephaly, Dyspnea, ... |
ORPHA:2636 |
Perlman Syndrome |
|
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Large for gestational age, Cryptorchidism, Nephr... |
OMIM:267000 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... |
OMIM:123700 |
Marfan Syndrome |
|
Osteopenia, Pulmonary artery dilatation, Mitral valve calcification, Arthralgia/arthritis, Sponta... |
ORPHA:558 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Increased body weight |
ORPHA:64745 |
Neuroendocrine Neoplasm Of Appendix |
|
Mechanical ileus, Tricuspid stenosis, Anorexia, Asthma, Heart murmur, Protracted diarrhea, Consti... |
ORPHA:100079 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentra... |
ORPHA:79099 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Hypotension |
OMIM:177735 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Phimosis, ... |
ORPHA:2908 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Hypertension, Hypotension |
OMIM:611489 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Corticosterone Methyloxidase Type I Deficiency |
|
Vomiting, Hypotension |
OMIM:203400 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Crackles, Nausea, Tachypnea, Rhabdomyolysis, Seizure, Vomiting, ST segment... |
ORPHA:466650 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the u... |
ORPHA:3320 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha... |
ORPHA:94059 |
Weill-Marchesani Syndrome 2 |
|
Joint stiffness, Hypoplasia of the maxilla, Elbow flexion contracture, Narrow palate, High palate... |
OMIM:608328 |
Witteveen-Kolk Syndrome |
|
Joint laxity, Hyperactivity, Eczema, Congenital diaphragmatic hernia, Aggressive behavior, Microc... |
OMIM:613406 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Splenopancreatic fusion, Macroglossia, Sclerosis of skull base, ... |
OMIM:269150 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Abscess, Impulsivity, Orthostatic hypotensi... |
ORPHA:642 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... |
ORPHA:2729 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Bowel incontinence, Dysphagia, Hypertension, Compulsive behaviors, Hypotension, Cerebral cortical... |
ORPHA:93256 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal neoplasm, Decrea... |
ORPHA:1916 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Aortic regurgitation, Joint laxity, Microcephaly, Congestive heart failure, Dilatatio... |
ORPHA:90348 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Hyphema, Uveitis, Retinal nonattachment, Retinal fold |
OMIM:221900 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Recurrent pharyngitis, Vasculitis, Hepatitis,... |
ORPHA:2331 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pne... |
ORPHA:95455 |
Loeys-Dietz Syndrome |
|
Tall stature, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Uterine rupture, Aor... |
ORPHA:60030 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
ORPHA:79403 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty |
ORPHA:90154 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thick lower lip vermilion, Sclerosis of skull base, Long philtrum, Thick upper lip vermilion, Thi... |
OMIM:619727 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Ret... |
ORPHA:90340 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Osteomalacia, Increased susceptibility to fractures, Pulmonary fibrosis, Glycosuria... |
ORPHA:3337 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Bilateral renal agenesis, Attentio... |
OMIM:617914 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Venous insufficiency, Cryptorchidism, Delayed puberty, Self-injuriou... |
ORPHA:649 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Small for gestational age, Hypospadias, Ventricular septal defect, Precocious p... |
OMIM:194190 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Arthralgia |
ORPHA:90153 |
White-Kernohan Syndrome |
|
Joint laxity, Dysplastic corpus callosum, Gastroesophageal reflux, Attention deficit hyperactivit... |
OMIM:619426 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Joint stiffness, Dysplastic corpus callosum, Colpocephaly, Secondary mi... |
OMIM:618820 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Postna... |
ORPHA:709 |
Familial Hypoaldosteronism |
|
Diarrhea, Orthostatic hypotension, Hypovolemia, Hypotension |
ORPHA:427 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, ... |
ORPHA:83628 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Small for gestational age, Hy... |
OMIM:107480 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Lacrimal g... |
OMIM:149730 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Uterus ... |
ORPHA:93271 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ventricular septal defect, Aggressive behavior, Postnatal growth retard... |
OMIM:135900 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Micrognathia, Flexion contracture, Camptodactyly of 2nd-5th fingers, ... |
OMIM:601803 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility |
ORPHA:2714 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Unilateral renal agenesis, Hypoplastic aortic arch, Aplasia of the vagina, Aplasia... |
ORPHA:457284 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Cryptorchidism, Epispadi... |
OMIM:258040 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Ventricular se... |
OMIM:261540 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Attention deficit hyperactivi... |
OMIM:614083 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Flexion contracture, Co... |
OMIM:300166 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Chronic irritative conjunctivitis, Primary amenorrhea, Hypohidrosis, Apl... |
ORPHA:69085 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Renal agenesis, Bifid uterus, Cryptorchidism, Patent ductus arteriosus... |
OMIM:256520 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... |
ORPHA:3109 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... |
ORPHA:637 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Remnants of the hyaloid vascula... |
OMIM:619539 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma |
OMIM:157170 |